Disease #00900 (CCHS (hypoventilation, central, syndrome, congenital, with/without Hirschsprung disease (CCHS1)), OMIM:209880)

Official abbreviation	CCHS
Name	hypoventilation, central, syndrome, congenital, with/without Hirschsprung disease (CCHS1)
OMIM ID	209880
Human Phenotype Ontology Project (HPO)	HPO
Inheritance	Autosomal dominant
Individuals reported having this disease	100
Phenotype entries for this disease	99
Associated with 1 gene	PHOX2B
Associated tissues	-
Disease features	-
Remarks	-
Date created	2014-09-25 23:29:40 +02:00 (CEST)
Date last edited	2021-12-10 21:51:32 +01:00 (CET)

Individuals

Legend

Please note that a short description of a certain column can be displayed when you move your mouse cursor over the column's header and hold it still. Below, a more detailed description is shown per column.

ID_report: ID of the individual that can be publically shared, e.g. as listed in a publication

Reference: reference to publication describing the individual/family, possibly giving more phenotypic details than listed in this database entry, incl. link to PubMed or other source, e.g. "den Dunnen ASHG2003 P2346"

Remarks: remarks about the individual

Gender: gender individual
All options:

? = unknown
- = not applicable
F = female
M = male
rF = raised as female
rM = raised as male

Consanguinity: indicates whether the parents are related (consanguineous), not related (non-consanguineous) or whether consanguinity is not known (unknown)
All options:

no = non-consanguineous parents
yes = consanguineous parents
likely = consanguinity likely
? = unknown
- = not applicable

Country: where (country) does the individual live/recently came from. Give additional details (population, specific sub-group) and when parents come from different countries in "Population". Belgium = individual lives in/recently came from Belgium, (France) = reported by laboratory in France, individual's country of origin not sure
All options:

? (unknown)
- (not applicable)
Afghanistan
(Afghanistan)
Albania
(Albania)
Algeria
(Algeria)
American Samoa
(American Samoa)
Andorra
(Andorra)
Angola
(Angola)
Anguilla
(Anguilla)
Antarctica
(Antarctica)
Antigua and Barbuda
(Antigua and Barbuda)
Argentina
(Argentina)
Armenia
(Armenia)
Aruba
(Aruba)
Australia
(Australia)
Austria
(Austria)
Azerbaijan
(Azerbaijan)
Bahamas
(Bahamas)
Bahrain
(Bahrain)
Bangladesh
(Bangladesh)
Barbados
(Barbados)
Belarus
(Belarus)
Belgium
(Belgium)
Belize
(Belize)
Benin
(Benin)
Bermuda
(Bermuda)
Bhutan
(Bhutan)
Bolivia
(Bolivia)
Bosnia and Herzegovina
(Bosnia and Herzegovina)
Botswana
(Botswana)
Bouvet Island
(Bouvet Island)
Brazil
(Brazil)
British Indian Ocean Territory
(British Indian Ocean Territory)
Brunei Darussalam
(Brunei Darussalam)
Bulgaria
(Bulgaria)
Burkina Faso
(Burkina Faso)
Burundi
(Burundi)
Cambodia
(Cambodia)
Cameroon
(Cameroon)
Canada
(Canada)
Cape Verde
(Cape Verde)
Cayman Islands
(Cayman Islands)
Central African Republic
(Central African Republic)
Central Europe
Chad
(Chad)
Chile
(Chile)
China
(China)
Christmas Island
(Christmas Island)
Cocos (Keeling Islands)
(Cocos (Keeling Islands))
Colombia
(Colombia)
Comoros
(Comoros)
Congo
(Congo)
Cook Islands
(Cook Islands)
Costa Rica
(Costa Rica)
Cote D'Ivoire (Ivory Coast)
(Cote D'Ivoire (Ivory Coast))
Croatia (Hrvatska)
(Croatia (Hrvatska))
Cuba
(Cuba)
Cyprus
(Cyprus)
Czech Republic
(Czech Republic)
Denmark
(Denmark)
Djibouti
(Djibouti)
Dominica
(Dominica)
Dominican Republic
(Dominican Republic)
East Timor
(East Timor)
Ecuador
(Ecuador)
Egypt
(Egypt)
El Salvador
(El Salvador)
England
(England)
Equatorial Guinea
(Equatorial Guinea)
Eritrea
(Eritrea)
Estonia
(Estonia)
Ethiopia
(Ethiopia)
Falkland Islands (Malvinas)
(Falkland Islands (Malvinas))
Faroe Islands
(Faroe Islands)
Fiji
(Fiji)
Finland
(Finland)
France
(France)
Gabon
(Gabon)
Gambia
(Gambia)
Georgia
(Georgia)
Germany
(Germany)
Ghana
(Ghana)
Gibraltar
(Gibraltar)
Greece
(Greece)
Greenland
(Greenland)
Grenada
(Grenada)
Guadeloupe
(Guadeloupe)
Guam
(Guam)
Guatemala
(Guatemala)
Guiana, French
(Guiana, French)
Guinea
(Guinea)
Guinea-Bissau
(Guinea-Bissau)
Guyana
(Guyana)
Haiti
(Haiti)
Heard and McDonald Islands
(Heard and McDonald Islands)
Honduras
(Honduras)
Hong Kong
(Hong Kong)
Hungary
(Hungary)
Iceland
(Iceland)
India
(India)
Indonesia
(Indonesia)
Iran
(Iran)
Iraq
(Iraq)
Ireland
(Ireland)
Israel
(Israel)
Italy
(Italy)
Jamaica
(Jamaica)
Japan
(Japan)
Jordan
(Jordan)
Kazakhstan
(Kazakhstan)
Kenya
(Kenya)
Kiribati
(Kiribati)
Korea
(Korea)
Korea, North (People's Republic)
(Korea, North (People's Republic))
Korea, South (Republic)
(Korea, South (Republic))
Kosovo
(Kosovo)
Kuwait
(Kuwait)
Kyrgyzstan (Kyrgyz Republic)
(Kyrgyzstan (Kyrgyz Republic))
Laos
(Laos)
Latvia
(Latvia)
Lebanon
(Lebanon)
Lesotho
(Lesotho)
Liberia
(Liberia)
Libya
(Libya)
Liechtenstein
(Liechtenstein)
Lithuania
(Lithuania)
Luxembourg
(Luxembourg)
Macau
(Macau)
Macedonia
(Macedonia)
Madagascar
(Madagascar)
Malawi
(Malawi)
Malaysia
(Malaysia)
Maldives
(Maldives)
Mali
(Mali)
Mallorca
(Mallorca)
Malta
(Malta)
Marshall Islands
(Marshall Islands)
Martinique
(Martinique)
Mauritania
(Mauritania)
Mauritius
(Mauritius)
Mayotte
(Mayotte)
Mexico
(Mexico)
Micronesia
(Micronesia)
Moldova
(Moldova)
Monaco
(Monaco)
Mongolia
(Mongolia)
Montserrat
(Montserrat)
Morocco
(Morocco)
Mozambique
(Mozambique)
Myanmar
(Myanmar)
Namibia
(Namibia)
Nauru
(Nauru)
Nepal
(Nepal)
Netherlands
(Netherlands)
Netherlands Antilles
(Netherlands Antilles)
Neutral Zone (Saudia Arabia/Iraq)
(Neutral Zone (Saudia Arabia/Iraq))
New Caledonia
(New Caledonia)
New Zealand
(New Zealand)
Nicaragua
(Nicaragua)
Niger
(Niger)
Nigeria
(Nigeria)
Niue
(Niue)
Norfolk Island
(Norfolk Island)
Northern Ireland
(Northern Ireland)
Northern Mariana Islands
(Northern Mariana Islands)
Norway
(Norway)
Oman
(Oman)
Pakistan
(Pakistan)
Palau
(Palau)
Palestine
(Palestine)
Panama
(Panama)
Papua New Guinea
(Papua New Guinea)
Paraguay
(Paraguay)
Peru
(Peru)
Philippines
(Philippines)
Pitcairn
(Pitcairn)
Poland
(Poland)
Polynesia, French
(Polynesia, French)
Portugal
(Portugal)
Puerto Rico
(Puerto Rico)
Qatar
(Qatar)
Reunion
(Reunion)
Romania
(Romania)
Russia
(Russia)
Russian Federation
(Russian Federation)
Rwanda
(Rwanda)
S. Georgia and S. Sandwich Isls.
(S. Georgia and S. Sandwich Isls.)
Saint Kitts and Nevis
(Saint Kitts and Nevis)
Saint Lucia
(Saint Lucia)
Saint Vincent and The Grenadines
(Saint Vincent and The Grenadines)
Samoa
(Samoa)
San Marino
(San Marino)
Sao Tome and Principe
(Sao Tome and Principe)
Saudi Arabia
(Saudi Arabia)
Scotland
(Scotland)
Senegal
(Senegal)
Serbia
(Serbia)
Seychelles
(Seychelles)
Sierra Leone
(Sierra Leone)
Singapore
(Singapore)
Slovakia (Slovak Republic)
(Slovakia (Slovak Republic))
Slovenia
(Slovenia)
Solomon Islands
(Solomon Islands)
Somalia
(Somalia)
South Africa
(South Africa)
Southern Territories, French
(Southern Territories, French)
Soviet Union (former)
(Soviet Union (former))
Spain
(Spain)
Sri Lanka
(Sri Lanka)
St. Helena, Ascension and Tristan da
Cunha
(St. Helena, Ascension and Tristan da
Cunha)
St. Pierre and Miquelon
(St. Pierre and Miquelon)
Sudan
(Sudan)
Sudan, South
(Sudan, South)
Suriname
(Suriname)
Svalbard and Jan Mayen Islands
(Svalbard and Jan Mayen Islands)
Swaziland
(Swaziland)
Sweden
(Sweden)
Switzerland
(Switzerland)
Syria
(Syria)
Taiwan
(Taiwan)
Tajikistan
(Tajikistan)
Tanzania
(Tanzania)
Thailand
(Thailand)
Togo
(Togo)
Tokelau
(Tokelau)
Tonga
(Tonga)
Trinidad and Tobago
(Trinidad and Tobago)
Tunisia
(Tunisia)
Turkey
(Turkey)
Turkmenistan
(Turkmenistan)
Turks and Caicos Islands
(Turks and Caicos Islands)
Tuvalu
(Tuvalu)
Uganda
(Uganda)
Ukraine
(Ukraine)
United Arab Emirates
(United Arab Emirates)
United Kingdom (Great Britain)
(United Kingdom (Great Britain))
United States
(United States)
Uruguay
(Uruguay)
US Minor Outlying Islands
(US Minor Outlying Islands)
Uzbekistan
(Uzbekistan)
Vanuatu
(Vanuatu)
Vatican City State (Holy See)
(Vatican City State (Holy See))
Venezuela
(Venezuela)
Viet Nam
(Viet Nam)
Virgin Islands (British)
(Virgin Islands (British))
Virgin Islands (US)
(Virgin Islands (US))
Wales
(Wales)
Wallis and Futuna Islands
(Wallis and Futuna Islands)
Western Sahara
(Western Sahara)
Yemen
(Yemen)
Yugoslavia
(Yugoslavia)
Zaire
(Zaire)
Zambia
(Zambia)
Zimbabwe
(Zimbabwe)

Population: population the individual (or ancestors) belongs to; e.g. white, gypsy, Jewish-Ashkenazi, Africa-N, Sardinia, etc.

Age at death: age at which the individual deceased (when applicable):

35y = 35 years
>43y = still alive at 43y
04y08m = 4 years and 8 months
00y00m01d12h = 1 day and 12 hours
18y? = around 18 years
30y-40y = between 30 and 40 years
>54y = older than 54
? = unknown

VIP: individual/phenotype VIP-status was requested for matchmaking - need collaboration(s) to crack the case - please contact the submitter/curator. NOTE: to get VIP status ask the curator.

Data_av: are additional data available upon request: e.g. pedigree (yes/no/?)

Treatment: treatment of patient

Variants in genes: The individual has variants for this gene.

Panel size: Number of individuals this entry represents; e.g. 1 for an individual, 5 for a family with 5 affected members.

How to query this table

All list views have search fields which can be used to search data. You can search for a complete word or you can search for a part of a search term. If you enclose two or more words in double quotes, LOVD will search for the combination of those words only exactly in the order you specify. Note that search terms are case-insensitive and that wildcards such as * are treated as normal text! For all options, like "and", "or", and "not" searches, or searching for prefixes or suffixes, see the table below.

Operator	Column type	Example	Matches
	Text	Arg	all entries containing 'Arg'
space	Text	Arg Ser	all entries containing 'Arg' and 'Ser'
\|	Text	Arg\|Ser	all entries containing 'Arg' or 'Ser'
!	Text	!fs	all entries not containing 'fs'
^	Text	^p.(Arg	all entries beginning with 'p.(Arg'
$	Text	Ser)$	all entries ending with 'Ser)'
=""	Text	=""	all entries with this field empty
=""	Text	="p.0"	all entries exactly matching 'p.0'
!=""	Text	!=""	all entries with this field not empty
!=""	Text	!="p.0"	all entries not exactly matching 'p.0?'
combination	Text	*\|Ter !fs	all entries containing '*' or 'Ter' but not containing 'fs'
	Date	2020	all entries matching the year 2020
\|	Date	2020-03\|2020-04	all entries matching March or April, 2020
!	Date	!2020-03	all entries not matching March, 2020
<	Date	<2020	all entries before the year 2020
<=	Date	<=2020-06	all entries in or before June, 2020
>	Date	>2020-06	all entries after June, 2020
>=	Date	>=2020-06-15	all entries on or after June 15th, 2020
combination	Date	2019\|2020 <2020-03	all entries in 2019 or 2020, and before March, 2020
	Numeric	23	all entries exactly matching 23
\|	Numeric	23\|24	all entries exactly matching 23 or 24
!	Numeric	!23	all entries not exactly matching 23
<	Numeric	<23	all entries lower than 23
<=	Numeric	<=23	all entries lower than, or equal to, 23
>	Numeric	>23	all entries higher than 23
>=	Numeric	>=23	all entries higher than, or equal to, 23
combination	Numeric	>=20 <30 !23	all entries with values from 20 to 29, but not equal to 23

Some more advanced examples:

Example	Matches
Asian	all entries containing 'Asian', 'asian', including 'Caucasian', 'caucasian', etc.
Asian !Caucasian	all entries containing 'Asian' but not containing 'Caucasian'
Asian\|African !Caucasian	all entries containing 'Asian' or 'African', but not containing 'Caucasian'
"South Asian"	all entries containing 'South Asian', but not containing 'South East Asian'

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100 entries on 1 page. Showing entries 1 - 100.

Legend

How to query

Individual ID	ID_report	Reference	Remarks	Gender	Consanguinity	Country	Population	Age at death	VIP	Data_av	Treatment	Disease	Phenotype details	Genes screened	Variants in genes	Variants	Panel size	Owner
00081481	-	PubMed: Amiel 2003, Journal: Amiel 2003	2-generation family, 1 affected, unaffected non-carrier parents	-	-	France	-	-	-	-	-	CCHS	autonomic nervous system dysfunction (esophageal dysmotility), no Hirschsprung disease (-HP:0002251), no tumour	PHOX2B	PHOX2B	1	1	Johan den Dunnen
00081482	-	PubMed: Amiel 2003, Journal: Amiel 2003	2-generation family, 1 affected, unaffected non-carrier parents	-	-	France	-	-	-	-	-	CCHS	autonomic nervous system dysfunction (decreased heart rate variability, abnormal pupillary reaction to light); no Hirschsprung disease (-HP:0002251); no tumour	PHOX2B	GDNF, PHOX2B	2	1	Johan den Dunnen
00081483	-	PubMed: Amiel 2003, Journal: Amiel 2003	2-generation family, 1 affected, unaffected non-carrier parents	-	-	France	-	-	-	-	-	CCHS	autonomic nervous system dysfunction (decreased heart rate variability, abnormal pupillary reaction to light); constipation; no tumour	PHOX2B	-	-	1	Johan den Dunnen
00081484	-	PubMed: Amiel 2003, Journal: Amiel 2003	2-generation family, 1 affected	-	-	France	-	-	-	-	-	CCHS	autonomic nervous system dysfunction (esophageal dysmotility, decreased heart rate variability, abnormal pupillary reaction to light); no Hirschsprung disease (-HP:0002251); no tumour	PHOX2B	-	-	1	Johan den Dunnen
00081485	-	PubMed: Amiel 2003, Journal: Amiel 2003	2-generation family, 1 affected	-	-	France	-	-	-	-	-	CCHS	autonomic nervous system dysfunction (esophageal dysmotility, decreased heart rate variability, abnormal pupillary reaction to light); no Hirschsprung disease (-HP:0002251); no tumour	PHOX2B	-	-	1	Johan den Dunnen
00081486	-	PubMed: Amiel 2003, Journal: Amiel 2003	2-generation family, 1 affected	-	-	France	-	-	-	-	-	CCHS	autonomic nervous system dysfunction (decreased heart rate variability, abnormal pupillary reaction to light); no Hirschsprung disease (-HP:0002251); no tumour	PHOX2B	-	-	1	Johan den Dunnen
00081487	-	PubMed: Amiel 2003, Journal: Amiel 2003	2-generation family, 1 affected	-	-	France	-	-	-	-	-	CCHS	autonomic nervous system dysfunction (decreased heart rate variability); constipation; no tumour	PHOX2B	PHOX2B	1	1	Johan den Dunnen
00081488	-	PubMed: Amiel 2003, Journal: Amiel 2003	2-generation family, 1 affected, unaffected non-carrier parents	-	-	France	-	-	-	-	-	CCHS	autonomic nervous system dysfunction (esophageal dysmotility, decreased heart rate variability, abnormal pupillary reaction to light); Hirschsprung disease (HP:0002251); no tumour	PHOX2B	PHOX2B	1	1	Johan den Dunnen
00081489	-	PubMed: Amiel 2003, Journal: Amiel 2003	2-generation family, 1 affected, unaffected non-carrier parents	-	-	France	-	-	-	-	-	CCHS	autonomic nervous system dysfunction (decreased heart rate variability, abnormal pupillary reaction to light); no Hirschsprung disease (-HP:0002251); no tumour	PHOX2B	PHOX2B	1	1	Johan den Dunnen
00081490	-	PubMed: Amiel 2003, Journal: Amiel 2003	2-generation family, 1 affected, unaffected non-carrier parents	-	-	France	-	-	-	-	-	CCHS	no Hirschsprung disease (-HP:0002251); no tumour	PHOX2B	PHOX2B	1	1	Johan den Dunnen
00081491	-	PubMed: Amiel 2003, Journal: Amiel 2003	2-generation family, 1 affected, unaffected non-carrier parents	-	-	France	-	-	-	-	-	CCHS	autonomic nervous system dysfunction (decreased heart rate variability, abnormal pupillary reaction to light); no Hirschsprung disease (-HP:0002251); no tumour	PHOX2B	PHOX2B	1	1	Johan den Dunnen
00081492	-	PubMed: Amiel 2003, Journal: Amiel 2003	2-generation family, 1 affected, unaffected non-carrier parents	-	-	France	-	-	-	-	-	CCHS	autonomic nervous system dysfunction (decreased heart rate variability, abnormal pupillary reaction to light); no Hirschsprung disease (-HP:0002251); no tumour	PHOX2B	PHOX2B	1	1	Johan den Dunnen
00081493	-	PubMed: Amiel 2003, Journal: Amiel 2003	2-generation family, 1 affected, unaffected non-carrier parents	-	-	France	-	-	-	-	-	CCHS	autonomic nervous system dysfunction (decreased heart rate variability, abnormal pupillary reaction to light); no Hirschsprung disease (-HP:0002251); no tumour	PHOX2B	PHOX2B	1	1	Johan den Dunnen
00081494	-	PubMed: Amiel 2003, Journal: Amiel 2003	2-generation family, 1 affected, unaffected non-carrier parents	-	-	France	-	-	-	-	-	CCHS	autonomic nervous system dysfunction (decreased heart rate variability, abnormal pupillary reaction to light); no Hirschsprung disease (-HP:0002251); no tumour	PHOX2B	PHOX2B	1	1	Johan den Dunnen
00081495	-	PubMed: Amiel 2003, Journal: Amiel 2003	2-generation family, 1 affected, unaffected non-carrier parents	-	-	France	-	-	-	-	-	CCHS	autonomic nervous system dysfunction (decreased heart rate variability, abnormal pupillary reaction to light); no Hirschsprung disease (-HP:0002251); no tumour	PHOX2B	PHOX2B	1	1	Johan den Dunnen
00081496	-	PubMed: Amiel 2003, Journal: Amiel 2003	2-generation family, 1 affected	-	-	France	-	-	-	-	-	CCHS	autonomic nervous system dysfunction (esophageal dysmotility, decreased heart rate variability, abnormal pupillary reaction to light); Hirschsprung disease (HP:0002251, LS); tumour	PHOX2B	-	-	1	Johan den Dunnen
00081497	-	PubMed: Amiel 2003, Journal: Amiel 2003	2-generation family, 1 affected, unaffected non-carrier parents	-	-	France	-	-	-	-	-	CCHS	autonomic nervous system dysfunction (esophageal dysmotility, decreased heart rate variability, abnormal pupillary reaction to light); no Hirschsprung disease (-HP:0002251); no tumour	PHOX2B	PHOX2B	1	1	Johan den Dunnen
00081498	-	PubMed: Amiel 2003, Journal: Amiel 2003	2-generation family, 1 affected, unaffected non-carrier parents	-	-	France	-	-	-	-	-	CCHS	autonomic nervous system dysfunction (esophageal dysmotility, decreased heart rate variability, abnormal pupillary reaction to light); no Hirschsprung disease (-HP:0002251); no tumour	PHOX2B	PHOX2B	1	1	Johan den Dunnen
00081499	-	PubMed: Amiel 2003, Journal: Amiel 2003	2-generation family, 1 affected, unaffected non-carrier parents	-	-	France	-	-	-	-	-	CCHS	autonomic nervous system dysfunction (decreased heart rate variability, abnormal pupillary reaction to light); Hirschsprung disease (HP:0002251, SS); no tumour	PHOX2B	PHOX2B	1	1	Johan den Dunnen
00081500	-	PubMed: Amiel 2003, Journal: Amiel 2003	2-generation family, 1 affected, unaffected non-carrier parents	-	-	France	-	-	-	-	-	CCHS	constipation; no tumour	PHOX2B	PHOX2B	1	1	Johan den Dunnen
00081501	-	PubMed: Amiel 2003, Journal: Amiel 2003	2-generation family, 1 affected, unaffected non-carrier parents	-	-	France	-	-	-	-	-	CCHS	Hirschsprung disease (HP:0002251); no tumour	PHOX2B	-	-	1	Johan den Dunnen
00081502	-	PubMed: Amiel 2003, Journal: Amiel 2003	2-generation family, 1 affected, unaffected non-carrier parents	-	-	France	-	-	-	-	-	CCHS	autonomic nervous system dysfunction (decreased heart rate variability, abnormal pupillary reaction to light); Hirschsprung disease (HP:0002251, LS); no tumour	PHOX2B	PHOX2B, RET	2	1	Johan den Dunnen
00081503	-	PubMed: Amiel 2003, Journal: Amiel 2003	2-generation family, 1 affected, unaffected non-carrier parents	-	-	France	-	-	-	-	-	CCHS	autonomic nervous system dysfunction (decreased heart rate variability); Hirschsprung disease (HP:0002251, LS); no tumour	PHOX2B	PHOX2B	1	1	Johan den Dunnen
00081504	-	PubMed: Amiel 2003, Journal: Amiel 2003	2-generation family, 1 affected	-	-	France	-	-	-	-	-	CCHS	autonomic nervous system dysfunction (decreased heart rate variability, abnormal pupillary reaction to light); Hirschsprung disease (HP:0002251, SS); no tumour	PHOX2B	-	-	1	Johan den Dunnen
00081505	-	PubMed: Amiel 2003, Journal: Amiel 2003	2-generation family, 1 affected	-	-	France	-	-	-	-	-	CCHS	Hirschsprung disease (HP:0002251, LS); no tumour	PHOX2B	-	-	1	Johan den Dunnen
00081506	-	PubMed: Amiel 2003, Journal: Amiel 2003	2-generation family, 1 affected	-	-	France	-	-	-	-	-	CCHS	autonomic nervous system dysfunction (decreased heart rate variability, abnormal pupillary reaction to light); Hirschsprung disease (HP:0002251, LS); no tumour	PHOX2B	-	-	1	Johan den Dunnen
00081507	-	PubMed: Amiel 2003, Journal: Amiel 2003	2-generation family, 1 affected, unaffected non-carrier parents	-	-	France	-	-	-	-	-	CCHS	Hirschsprung disease (HP:0002251); no tumour	PHOX2B	PHOX2B	1	1	Johan den Dunnen
00081508	-	PubMed: Amiel 2003, Journal: Amiel 2003	2-generation family, 1 affected, unaffected non-carrier parents	-	-	France	-	-	-	-	-	CCHS	autonomic nervous system dysfunction (abnormal pupillary reaction to light); Hirschsprung disease (HP:0002251); tumour	PHOX2B	PHOX2B	1	1	Johan den Dunnen
00081509	-	PubMed: Amiel 2003, Journal: Amiel 2003	2-generation family, 1 affected, unaffected non-carrier parents	-	-	France	-	-	-	-	-	CCHS	Hirschsprung disease (HP:0002251, LS); no tumour	PHOX2B	PHOX2B	1	1	Johan den Dunnen
00081510	-	PubMed: Antic 2006, Journal: Antic 2006	2-generation family, 3 affecteds,mother/2 children	-	-	United Kingdom (Great Britain)	-	-	-	-	-	CCHS	see paper; …	PHOX2B	PHOX2B	1	3	Johan den Dunnen
00081511	-	PubMed: Antic 2006, Journal: Antic 2006	-	-	-	Australia	-	-	-	-	-	CCHS	see paper; …	PHOX2B	PHOX2B	1	1	Johan den Dunnen
00081512	-	PubMed: Antic 2006, Journal: Antic 2006	-	-	-	Germany	-	-	-	-	-	CCHS	see paper; …	PHOX2B	PHOX2B	1	1	Johan den Dunnen
00081513	-	PubMed: Antic 2006, Journal: Antic 2006	2-generation family, 3 affecteds,mother/2 children	-	-	United States	-	-	-	-	-	CCHS	see paper; …	PHOX2B	PHOX2B	1	3	Johan den Dunnen
00081514	-	PubMed: Antic 2006, Journal: Antic 2006	-	-	-	United States	-	-	-	-	-	CCHS	see paper; …	PHOX2B	PHOX2B	1	1	Johan den Dunnen
00081515	-	PubMed: Trochet 2005, Journal: Trochet 2005	analysis 188 CCHS cases	-	-	-	European	-	-	-	-	CCHS	isolated CCHS (30), LO-CHS (5)	PHOX2B	PHOX2B	1	35	Johan den Dunnen
00081516	-	PubMed: Trochet 2005, Journal: Trochet 2005	analysis 188 CCHS cases	-	-	-	European	-	-	-	-	CCHS	isolated CCHS (37),CCHS+HSCR (5), ? (2)	PHOX2B	PHOX2B	1	44	Johan den Dunnen
00081517	-	PubMed: Trochet 2005, Journal: Trochet 2005	analysis 188 CCHS cases	-	-	-	European	-	-	-	-	CCHS	isolated CCHS (39),CCHS+HSCR (18), ? (3)	PHOX2B	PHOX2B	1	60	Johan den Dunnen
00081518	-	PubMed: Trochet 2005, Journal: Trochet 2005	analysis 188 CCHS cases	-	-	-	European	-	-	-	-	CCHS	isolated CCHS (2),CCHS+HSCR (3)	PHOX2B	PHOX2B	1	5	Johan den Dunnen
00081519	-	PubMed: Trochet 2005, Journal: Trochet 2005	analysis 188 CCHS cases	-	-	-	European	-	-	-	-	CCHS	isolated CCHS (2),CCHS+tumour (1), ? (1)	PHOX2B	PHOX2B	1	4	Johan den Dunnen
00081520	-	PubMed: Trochet 2005, Journal: Trochet 2005	analysis 188 CCHS cases	-	-	-	European	-	-	-	-	CCHS	isolated CCHS (1), ? (2)	PHOX2B	PHOX2B	1	3	Johan den Dunnen
00081521	-	PubMed: Trochet 2005, Journal: Trochet 2005	analysis 188 CCHS cases	-	-	-	European	-	-	-	-	CCHS	CCHS+HSCR (2)	PHOX2B	PHOX2B	1	2	Johan den Dunnen
00081522	-	PubMed: Trochet 2005, Journal: Trochet 2005	analysis 188 CCHS cases	-	-	-	European	-	-	-	-	CCHS	CCHS+HSCR (2)	PHOX2B	PHOX2B	1	2	Johan den Dunnen
00081523	-	PubMed: Trochet 2005, Journal: Trochet 2005	analysis 188 CCHS cases	-	-	-	European	-	-	-	-	CCHS	isolated CCHS (1), tumour (1), ? (4)	PHOX2B	PHOX2B	1	6	Johan den Dunnen
00081524	-	PubMed: Trochet 2005, Journal: Trochet 2005	analysis 188 CCHS cases	-	-	-	European	-	-	-	-	CCHS	CCHS, HSCR (SS), neuroblastoma	PHOX2B	PHOX2B	1	3	Johan den Dunnen
00081525	-	PubMed: Trochet 2005, Journal: Trochet 2005	analysis 188 CCHS cases	-	-	-	European	-	-	-	-	CCHS	CCHS, HSCR (LS), no neuroblastoma	PHOX2B	PHOX2B	1	1	Johan den Dunnen
00081526	-	PubMed: Trochet 2005, Journal: Trochet 2005	analysis 188 CCHS cases	-	-	-	European	-	-	-	-	CCHS	CCHS, HSCR (LS), no neuroblastoma	PHOX2B	PHOX2B	1	1	Johan den Dunnen
00081527	-	PubMed: Trochet 2005, Journal: Trochet 2005	analysis 188 CCHS cases	-	-	-	European	-	-	-	-	CCHS	CCHS, HSCR, neuroblastoma (multiple)	PHOX2B	PHOX2B	1	3	Johan den Dunnen
00081528	-	PubMed: Trochet 2005, Journal: Trochet 2005	analysis 188 CCHS cases	-	-	-	European	-	-	-	-	CCHS	-	PHOX2B	PHOX2B	1	1	Johan den Dunnen
00081529	-	PubMed: Trochet 2005, Journal: Trochet 2005	analysis 188 CCHS cases	-	-	-	European	-	-	-	-	CCHS	CCHS, HSCR (TCA), neuroblastoma (multiple)	PHOX2B	PHOX2B	1	35	Johan den Dunnen
00081530	-	PubMed: Trochet 2005, Journal: Trochet 2005	analysis 188 CCHS cases	-	-	-	European	-	-	-	-	CCHS	CCHS, no HSCR (SS)	PHOX2B	PHOX2B	1	44	Johan den Dunnen
00081531	-	PubMed: Trochet 2005, Journal: Trochet 2005	analysis 188 CCHS cases	-	-	-	European	-	-	-	-	CCHS	CCHS, HSCR (TCA), no neuroblastoma	PHOX2B	PHOX2B	1	60	Johan den Dunnen
00081532	-	PubMed: Trochet 2005, Journal: Trochet 2005	analysis 188 CCHS cases	-	-	-	European	-	-	-	-	CCHS	CCHS, HSCR, neuroblastoma	PHOX2B	PHOX2B	1	5	Johan den Dunnen
00081533	-	PubMed: Trochet 2005, Journal: Trochet 2005	analysis 188 CCHS cases	-	-	-	European	-	-	-	-	CCHS	CCHS, HSCR (LS), no neuroblastoma	PHOX2B	PHOX2B	1	4	Johan den Dunnen
00081534	-	PubMed: Trochet 2005, Journal: Trochet 2005	analysis 188 CCHS cases	-	-	-	European	-	-	-	-	CCHS	CCHS, HSCR, neuroblastoma (multiple)	PHOX2B	PHOX2B	1	3	Johan den Dunnen
00081535	-	PubMed: Trochet 2005, Journal: Trochet 2005	analysis 188 CCHS cases	-	-	-	European	-	-	-	-	CCHS	CCHS, HSCR (TCA), neuroblastoma (ganglioneuroblastoma)	PHOX2B	PHOX2B	1	2	Johan den Dunnen
00081536	-	PubMed: Trochet 2005, Journal: Trochet 2005	analysis 188 CCHS cases	-	-	-	European	-	-	-	-	CCHS	CCHS, HSCR (SS)	PHOX2B	PHOX2B	1	2	Johan den Dunnen
00081539	-	PubMed: Arai 2007, Journal: Arai 2007	2-generation family, 1 affected, unaffected non-carrier parents	F	-	Japan	-	-	-	-	-	CCHS	-	PHOX2B	PHOX2B	2	3	Johan den Dunnen
00081540	-	PubMed: Arai 2007, Journal: Arai 2007	2-generation family, 1 affected, unaffected non-carrier parents	M	-	Japan	-	-	-	-	-	CCHS	-	PHOX2B	PHOX2B	1	1	Johan den Dunnen
00081541	-	PubMed: Arai 2007, Journal: Arai 2007	2-generation family, 1 affected, unaffected non-carrier parents	M	-	Japan	-	-	-	-	-	CCHS	-	PHOX2B	PHOX2B	2	1	Johan den Dunnen
00081542	-	PubMed: Arai 2007, Journal: Arai 2007	2-generation family, 1 affected, unaffected non-carrier parents	F	-	Japan	-	-	-	-	-	CCHS	-	PHOX2B	PHOX2B	2	3	Johan den Dunnen
00081543	-	PubMed: Arai 2007, Journal: Arai 2007	2-generation family, 1 affected, unaffected non-carrier parents	F	-	Japan	-	-	-	-	-	CCHS	-	PHOX2B	PHOX2B	2	1	Johan den Dunnen
00081544	-	PubMed: Arai 2007, Journal: Arai 2007	2-generation family, 1 affected, unaffected non-carrier parents	M	-	Japan	-	-	-	-	-	CCHS	-	PHOX2B	PHOX2B	1	35	Johan den Dunnen
00131920	41	PubMed: Di Lascio 2018, Journal: Di Lascio 2018	-	F	no	Italy	-	-	-	-	-	CCHS	neuroblastoma Hirschsprung disease	PHOX2B	PHOX2B	1	1	Tiziana Bachetti
00131937	021	PubMed: Matera 2004, PubMed: Bachetti 2005, Journal: Bachetti 2005	unaffected parents	F	no	Italy	-	-	-	-	-	CCHS	neuroblastoma Hirschsprung disease	PHOX2B	PHOX2B	1	1	Tiziana Bachetti
00131948	075	PubMed: Di Lascio 2018, Journal: Di Lascio 2018	inheritance not assessed (father not carrying mutation, mother's DNA not available)	F	-	Germany	-	-	-	-	-	CCHS	CCHS, neuroblastoma	PHOX2B	PHOX2B	1	1	Tiziana Bachetti
00131955	085	PubMed: Di Lascio 2018, Journal: Di Lascio 2018	parents's DNA not available for inheritance study	M	?	Germany	-	-	-	-	-	CCHS	-	PHOX2B	PHOX2B	1	1	Tiziana Bachetti
00131960	92	PubMed: Di Lascio 2018, Journal: Di Lascio 2018	de novo variant, associated with Hirschsprung disease	F	?	Italy	-	-	-	-	-	CCHS	Hirshsprung disease	PHOX2B	PHOX2B	1	1	Tiziana Bachetti
00132026	215	PubMed: Di Lascio 2018, Journal: Di Lascio 2018	-	F	?	Germany	-	-	-	-	-	CCHS	no additonal phenotypes	PHOX2B	PHOX2B	1	1	Tiziana Bachetti
00132027	131	PubMed: Di Lascio 2018, Journal: Di Lascio 2018	-	?	-	-	-	-	-	-	-	CCHS	Hirschsprung disease	PHOX2B	PHOX2B	1	1	Tiziana Bachetti
00132028	299	PubMed: Di Lascio 2018, Journal: Di Lascio 2018	-	M	?	-	-	-	-	-	-	CCHS	no associated phenotypes	PHOX2B	PHOX2B	1	1	Tiziana Bachetti
00132030	259	PubMed: Di Lascio 2018, Journal: Di Lascio 2018	-	M	-	Italy	-	-	-	-	-	CCHS	CCHS, Hirschsprung disease	PHOX2B	PHOX2B	1	1	Tiziana Bachetti
00132031	132	PubMed: Di Lascio 2018, Journal: Di Lascio 2018	-	?	-	-	-	-	-	-	-	CCHS	CCHS, Hirschsprung disease	PHOX2B	PHOX2B	1	1	Tiziana Bachetti
00132093	Pat01	PubMed: Matera 2004	-	-	-	Italy	-	-	-	-	ventilation during sleep	CCHS	late onset	PHOX2B	PHOX2B	1	1	Tiziana Bachetti
00132094	Pat02	PubMed: Matera 2004	-	-	-	Italy	-	-	-	-	ventilation during sleep	CCHS	ocular anomalies	PHOX2B	PHOX2B	1	1	Tiziana Bachetti
00132095	Pat03	PubMed: Matera 2004	-	-	-	Italy	-	-	-	-	ventilation during sleep	CCHS	dysrhythmia, loss of consciousness	PHOX2B	PHOX2B	1	1	Tiziana Bachetti
00132096	Pat04	PubMed: Matera 2004	-	-	-	Italy	-	-	-	-	ventilation during sleep	CCHS	ocular anomalies, constipation	PHOX2B	PHOX2B	1	1	Tiziana Bachetti
00132097	Pat05	PubMed: Matera 2004	-	-	-	Italy	-	-	-	-	ventilation during sleep	CCHS	ocular anomalies, decreased heart rate variability	PHOX2B	PHOX2B	1	1	Tiziana Bachetti
00132098	Pat06	PubMed: Matera 2004	-	-	-	Italy	-	-	-	-	ventilation during sleep	CCHS	ocular anomalies	PHOX2B	PHOX2B	1	1	Tiziana Bachetti
00132099	Pat07	PubMed: Matera 2004	-	-	-	Italy	-	-	-	-	ventilation during sleep	CCHS	-	PHOX2B	PHOX2B	1	1	Tiziana Bachetti
00132100	Pat08	PubMed: Matera 2004	-	-	-	Italy	-	-	-	-	ventilation during sleep	CCHS	-	PHOX2B	PHOX2B	1	1	Tiziana Bachetti
00132101	Pat09	PubMed: Matera 2004	-	-	-	Italy	-	-	-	-	ventilation during sleep	CCHS	-	PHOX2B	PHOX2B	1	1	Tiziana Bachetti
00132102	Pat10	PubMed: Matera 2004	-	-	-	Italy	-	-	-	-	ventilation 24h	CCHS	ocular anomalies, growth hormone deficiency, constipation	PHOX2B	PHOX2B	1	1	Tiziana Bachetti
00132103	Pat11	PubMed: Matera 2004	-	-	-	Germany	-	-	-	-	ventilation during sleep	CCHS	-	PHOX2B	PHOX2B	1	1	Tiziana Bachetti
00132104	Pat12	PubMed: Matera 2004	-	-	-	Germany	-	-	-	-	ventilation during sleep	CCHS	-	PHOX2B	PHOX2B	1	1	Tiziana Bachetti
00132105	Pat13	PubMed: Matera 2004	-	-	-	Germany	-	-	-	-	ventilation 24h	CCHS	-	PHOX2B	PHOX2B	1	1	Tiziana Bachetti
00132106	Pat14	PubMed: Matera 2004	-	-	-	Germany	-	-	-	-	ventilation 24h	CCHS	Hirschsprung’s disease	PHOX2B	PHOX2B	1	1	Tiziana Bachetti
00132107	Pat15	PubMed: Matera 2004	-	-	-	Italy	-	-	-	-	ventilation during sleep	CCHS	late onset	PHOX2B	PHOX2B	1	1	Tiziana Bachetti
00132108	Pat16	PubMed: Matera 2004	-	-	-	Italy	-	-	-	-	ventilation during sleep	CCHS	loss of consciousness, abdominal pain	PHOX2B	PHOX2B	1	1	Tiziana Bachetti
00132109	Pat17	PubMed: Matera 2004	-	-	-	Italy	-	-	-	-	ventilation during sleep	CCHS	late onset	PHOX2B	-	-	1	Tiziana Bachetti
00132110	Pat18	PubMed: Matera 2004	-	-	-	Italy	-	-	-	-	ventilation during sleep	CCHS	-	PHOX2B	PHOX2B	1	1	Tiziana Bachetti
00132111	Pat19	PubMed: Matera 2004	-	-	-	Italy	-	-	-	-	ventilation during sleep	CCHS	gastroesophageal reflux	PHOX2B	PHOX2B	1	1	Tiziana Bachetti
00132112	Pat20	PubMed: Matera 2004	-	-	-	Italy	-	-	-	-	ventilation during sleep	CCHS	ocular anomalies, loss of consciousness, altered sweating, dysphagia	PHOX2B	PHOX2B	1	1	Tiziana Bachetti
00132113	Pat22	PubMed: Matera 2004	-	-	-	Germany	-	-	-	-	ventilation during sleep	CCHS	Hirschsprung’s disease, ocular anomalies, loss of consciousness, dysrhythmia	PHOX2B	PHOX2B	1	1	Tiziana Bachetti
00132114	Pat23	PubMed: Matera 2004	-	-	-	Italy	-	-	-	-	ventilation during sleep	CCHS	altered perception of pain, constipation	PHOX2B	PHOX2B	1	1	Tiziana Bachetti
00132115	Pat24	PubMed: Matera 2004	-	M	?	Italy	-	00y04m	-	-	ventilation 24h	CCHS	Hirschsprung’s disease, ocular anomalies, total colon aganglionosis (TCA)	PHOX2B	PHOX2B	1	1	Tiziana Bachetti
00132116	Pat27	PubMed: Matera 2004	variant inherited from mother, affected brother/sister carry same variant	M	-	Netherlands	-	-	-	-	ventilation during sleep	CCHS	tetralogy of Fallot	PHOX2B	PHOX2B	1	4	Tiziana Bachetti
00132117	Pat28	PubMed: Matera 2004	-	-	-	Italy	-	-	-	-	ventilation during sleep	CCHS	ocular anomalies	PHOX2B	PHOX2B	1	1	Tiziana Bachetti
00155709	15516980-N532	PubMed: Van Limpt 2004	-	M	-	Netherlands	-	-	-	-	-	CCHS	see paper; ...	PHOX2B	PHOX2B	1	1	Johan den Dunnen
00305400	137849	-	-	F	?	-	-	-	-	-	-	CCHS	Central hypoventilation syndrome, cryptogenic epilepsy, combined developmental delay, chronic epilepsy hypoxaemia (drumstick finger); behavioural abnormalities, resuscitation, tracheotomized and nocturnal home respiration	TMEM43	TMEM43	1	1	Andreas Laner
00416615	-	-	-	F	no	France	African	00y01m	-	-	-	CCHS	Severe respiratory distress	PHOX2B	PHOX2B	1	1	Minh Tuan Huynh

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How to query

Global Variome shared LOVD

ABCC8 (ATP-binding cassette, sub-family C (CFTR/MR...))