All individuals with variants in gene PTCHD1

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'

To sort on a certain column, click on the column header or on the arrows. If that column is already selected to sort on, the sort order will be swapped. The column currently sorted on has a darker blue background color than the other columns. The up and down arrows next to the column name indicate the current sorting direction. When sorting on any field other than the default, LOVD will sort secondarily on the default sort column.

44 entries on 1 page. Showing entries 1 - 44.

Legend

How to query

Individual ID	ID_report	Reference	Remarks	Gender	Consanguinity	Country	Population	Age at death	VIP	Data_av	Treatment	Disease	Phenotype details	Variants	Panel size	Owner
00000208	-	PubMed: Sun 2011, Journal: Sun 2011	-	M	no	Netherlands	-	-	-	-	-	CHTE	central hypothyroidism (FT4 0.50-0.99of lower limit normal), no prolactin deficiency, age sonographic determination testicular volume 17.64y, testicular volume right/left 21/20 (7.3–16ml)	2	1	Yu Sun
00000209	-	PubMed: Sun 2011, Journal: Sun 2011	-	M	no	Netherlands	-	-	-	-	-	CHTE	central hypothyroidism (FT4 0.50-0.99of lower limit normal), prolactin deficiency, age sonographic determination testicular volume 21.36y, testicular volume right/left 30/26 (8.5–18.3ml)	3	1	Yu Sun
00024221	-	PubMed: Wibley 2010	3-generation family, 3 affecteds, unaffected carrier females	M	-	-	-	-	-	-	-	MRX;IDX	-	1	3	Johan den Dunnen
00029005	-	PubMed: Torrico 2015	240 patients	-	-	Spain	white	-	-	-	-	autism	-	4	240	Bru Cormand
00029006	-	PubMed: Torrico 2015	-	-	-	Spain	white	-	-	-	-	ID	-	1	1	Bru Cormand
00050451	-	PubMed: DDDS 2015, Journal: DDDS 2015	family, 1 affected	M	-	United Kingdom (Great Britain)	-	-	-	Decipher	-	?	blue sclerae, deeply set eye, wide mouth, long philtrum, global developmental delay	1	1	Johan den Dunnen
00050672	-	PubMed: DDDS 2015, Journal: DDDS 2015	family, 1 affected	M	-	United Kingdom (Great Britain)	-	-	-	Decipher	-	?	global developmental delay, abnormal facial shape, sleep disturbance, aggressive behavior, constipation, eczema, drooling, gait disturbance	1	1	Johan den Dunnen
00074629	25131214-FamAPat1	PubMed: Chaudhry 2015, Journal: Chaudhry 2015	2-generation family, 2 affected brothers	M	-	France	white	>12y08m	-	-	-	autism, ID	long face (HP:0000276), short columella (HP:0002000), long philtrum (HP:0000343), thin upper lip vermilion (HP:0000219), wide mouth (HP:0000154), micrognathia (HP:0000347), hypotonic face (HP:0000271); intellectual disability (HP:0001249); global developmental delay (HP:0001263)	1	2	Pieter Klap
00095046	-	PubMed: Chaudhry 2015, Journal: Chaudhry 2015	PatA2	M	-	France	-	>33y	-	-	-	autism	no dysmorphic features, no growth abnormalities, unsure about developmental/cognitive functioning, no neurological features	1	1	Johan den Dunnen
00095047	-	PubMed: Chaudhry 2015, Journal: Chaudhry 2015	2-generation family, 2 affected brothers, PatO1	M	-	Germany	-	-	-	-	-	?	no dysmorphic features, no growth abnormalities, global developmental delay, mild intellectual disability, mood disorder, Tourette syndrome, hyperkinetic disorder, anxiety disorder, sleep disorder, hypotonia	1	2	Johan den Dunnen
00095048	-	PubMed: Chaudhry 2015, Journal: Chaudhry 2015	PatO2	M	-	Germany	-	-	-	-	-	?	long philtrum, low set posteriorly rotated ears, no growth abnormalities, global developmental delay, aggressive outbursts, hyperactivity, vocal and motor tics, sleep disorder, shy personality, avoids social contacts, no neurological features	1	1	Johan den Dunnen
00095049	-	PubMed: Chaudhry 2015, Journal: Chaudhry 2015	-	M	-	United Kingdom (Great Britain)	white	-	-	-	-	?	straight eyebrows, upslanted palpebral fissures, thin upper lip vermilion, relative microcephaly (HC 10th percentile), global developmental delay, sleep disorder, hypotonic face with drooling, generalized hypotonia, mild ataxia	1	1	Johan den Dunnen
00095050	-	PubMed: Chaudhry 2015, Journal: Chaudhry 2015, PubMed: Filges 2011, Journal: Filges 2011	2-generation family, 2 affecteds	M	-	Italy	white	-	-	-	-	?	see paper; …	1	2	Johan den Dunnen
00095051	-	PubMed: Chaudhry 2015, Journal: Chaudhry 2015, PubMed: Filges 2011, Journal: Filges 2011	-	M	-	Italy	white	-	-	-	-	?	see paper; …	1	1	Johan den Dunnen
00095052	-	PubMed: Chaudhry 2015, Journal: Chaudhry 2015	2-generation family, 2 affecteds	M	-	Netherlands	white	-	-	-	-	?	see paper; …	1	2	Johan den Dunnen
00095053	-	PubMed: Chaudhry 2015, Journal: Chaudhry 2015	-	M	-	Netherlands	white	-	-	-	-	?	see paper; …	1	1	Johan den Dunnen
00095054	-	PubMed: Chaudhry 2015, Journal: Chaudhry 2015	-	M	-	-	-	-	-	-	-	?	see paper; …	1	1	Johan den Dunnen
00095055	-	PubMed: Chaudhry 2015, Journal: Chaudhry 2015	-	M	-	United Kingdom (Great Britain)	white	-	-	-	-	?	see paper; …	1	1	Johan den Dunnen
00095056	-	PubMed: Chaudhry 2015, Journal: Chaudhry 2015	2-generation family, 3 affecteds	M	-	-	white	-	-	-	-	?	see paper; …	1	3	Johan den Dunnen
00095057	-	PubMed: Chaudhry 2015, Journal: Chaudhry 2015	-	M	-	-	white	-	-	-	-	?	see paper; …	1	1	Johan den Dunnen
00095058	-	PubMed: Chaudhry 2015, Journal: Chaudhry 2015	-	M	-	-	white	-	-	-	-	?	see paper; …	1	1	Johan den Dunnen
00095059	-	PubMed: Chaudhry 2015, Journal: Chaudhry 2015	2-generation family, 2 affecteds	M	-	-	European, north, white	-	-	-	-	?	see paper; …	1	2	Johan den Dunnen
00095060	-	PubMed: Chaudhry 2015, Journal: Chaudhry 2015	-	M	-	-	European, north, white	-	-	-	-	?	see paper; …	1	1	Johan den Dunnen
00095061	-	PubMed: Chaudhry 2015, Journal: Chaudhry 2015	-	M	-	United Kingdom (Great Britain)	white	-	-	-	-	?	see paper; …	1	1	Johan den Dunnen
00095062	-	PubMed: Chaudhry 2015, Journal: Chaudhry 2015	-	M	-	-	white	-	-	-	-	?	see paper; …	1	1	Johan den Dunnen
00095063	-	PubMed: Chaudhry 2015, Journal: Chaudhry 2015	-	M	-	-	Filipino, white	-	-	-	-	?	see paper; …	1	1	Johan den Dunnen
00095064	-	PubMed: Chaudhry 2015, Journal: Chaudhry 2015	-	M	-	India	Indian, east	-	-	-	-	?	see paper; …	1	1	Johan den Dunnen
00095065	-	PubMed: Chaudhry 2015, Journal: Chaudhry 2015	-	M	-	-	white	-	-	-	-	?	see paper; …	1	1	Johan den Dunnen
00095066	-	PubMed: Chaudhry 2015, Journal: Chaudhry 2015	-	M	-	-	Irish/aboriginal, white	-	-	-	-	?	see paper; …	1	1	Johan den Dunnen
00095067	-	PubMed: Chaudhry 2015, Journal: Chaudhry 2015	-	M	-	Canada	Irish?french, white	-	-	-	-	?	see paper; …	1	1	Johan den Dunnen
00144427	-	-	-	M	-	(Germany)	-	-	-	-	-	?	Global developmental delay (HP:0001263); Behavioral abnormality (HP:0000708)	1	1	IMGAG
00150182	26539891-FamBAB4918	PubMed: Karaca 2015	-	-	-	-	-	-	-	family structure in paper	-	?	Frontal lissencephalic cortical dysplasia, seizures	1	2	Johan den Dunnen
00307763	UK10K_FINDWGA5410926	PubMed: Grozeva 2015, Journal: Grozeva 2015	-	M	-	-	-	-	-	-	-	ID	-	1	1	Johan den Dunnen
00375233	181067	-	-	M	?	-	-	-	-	-	-	AUTSX1	(+) Autism,(+) Autistic behavior,(+) Delayed speech and language development,(+) Global developmental delay,(+) Neurological speech impairment,(+) EEG abnormality,(+) Poor speech,(+) Expressive language delay,(+) Abnormality of higher mental function,(+) Abnormality of central nervous system electrophysiology,(+) Cognitive impairment	1	1	Andreas Laner
00376959	case/control	PubMed: Torrico 2015	-	-	-	-	-	-	-	-	-	?	-	1	6	Johan den Dunnen
00376960	case/control	PubMed: Torrico 2015	-	-	-	-	-	-	-	-	-	?	-	1	807	Johan den Dunnen
00376961	case/control	PubMed: Torrico 2015	-	-	-	-	-	-	-	-	-	?	-	1	76	Johan den Dunnen
00376962	case/control	PubMed: Torrico 2015	-	-	-	-	-	-	-	-	-	?	-	1	15	Johan den Dunnen
00376963	case/control	PubMed: Torrico 2015	-	-	-	-	-	-	-	-	-	?	-	1	6	Johan den Dunnen
00399156	FamD222	PubMed: Philips 2014	3-generation family, 3 affected (3M), unaffected heterozygous carrier mother	M	-	Finland	-	-	-	-	-	ID	see paper; ...	1	3	Johan den Dunnen
00433672	-	-	-	M	-	-	-	-	-	-	-	AUTSX4	moderate intellectual disability, global developmental delay	1	1	Marketa Wayhelova
00433673	-	-	-	-	-	-	-	-	-	-	-	AUTSX4	intellectual disability, hypotonia	1	1	Marketa Wayhelova
00453097	Pat53	PubMed: Rots 2024, Journal: Rots 2024	-	M	-	-	-	-	-	-	-	NDD	see paper; ... (very detailed phenotype descriptions)	1	1	Johan den Dunnen
00466076	337113	-	-	M	no	Germany	-	-	-	-	-	AUTSX4	Abnormality of skin pigmentation, Autistic behavior, Global developmental delay, Intellectual disability, mild, Hyperactivity, Asymmetry of the thorax, Prominent fingertip pads, Aggression towards others, Self-biting	1	1	Andreas Laner

Legend

How to query

Global Variome shared LOVD

PTCHD1 (patched domain containing 1)