Disease #05812 (NP (Niemann-Pick disease (NP)))

Official abbreviation	NP
Name	Niemann-Pick disease (NP)
OMIM ID	-
Inheritance	-
Individuals reported having this disease	257
Phenotype entries for this disease	245
Associated with 2 genes	NPC1, SMPD1
Associated tissues	-
Disease features	-
Remarks	-
Date created	2020-08-13 16:01:35 +02:00 (CEST)
Date last edited	2020-12-24 09:23:19 +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.

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\|	Date	2020-03\|2020-04	all entries matching March or April, 2020
!	Date	!2020-03	all entries not matching March, 2020
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Example	Matches
Asian	all entries containing 'Asian', 'asian', including 'Caucasian', 'caucasian', etc.
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"South Asian"	all entries containing 'South Asian', but not containing 'South East Asian'

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257 entries on 3 pages. Showing entries 1 - 100.

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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
00307446	Fam19PatLP142	PubMed: Stalke 2018	-	-	-	Germany	-	-	-	-	-	NP	characteristic phenotype (Neonatal jaundice and liver failure)	NPC1	NPC1	2	1	Johan den Dunnen
00324690	-	-	-	-	-	-	-	-	-	-	-	NP	-	SMPD1	SMPD1	1	1	Jiayue Hu
00434304	Pat1	PubMed: Lopez de Frutos 2020	3-generation family, 1 affected, unaffected heterozygous parents/relatives	F	-	Spain	-	-	-	-	-	NP	see paper; ..., visceral enlargement; cholestasis; neurological involvement; psychomotor retardation, vertical ophthalmoplegia, photophobia, rigidity lower extremities with varus deviation	NPC1	NPC1	1	1	Johan den Dunnen
00434305	Pat2	PubMed: Lopez de Frutos 2020	2-generation family, 1 affected, unaffected heterozygous parents/relatives	M	-	Spain	-	-	-	-	-	NP	see paper; ..., visceral enlargement; no cholestasis; neurological involvement	NPC1	NPC1	1	1	Johan den Dunnen
00434306	Pat3	PubMed: Lopez de Frutos 2020	2-generation family, 1 affected, unaffected heterozygous parents	M	-	Spain	-	-	-	-	-	NP	see paper; ..., visceral enlargement; cholestasis; no neurological involvement	NPC1	NPC1	1	1	Johan den Dunnen
00434307	Pat4	PubMed: Lopez de Frutos 2020	2-generation family, 1 affected, unaffected heterozygous parents/relatives	M	-	Spain	-	-	-	-	-	NP	see paper; ..., visceral enlargement; no cholestasis; neurological involvement	NPC1	NPC1	2	1	Johan den Dunnen
00434308	Pat5	PubMed: Lopez de Frutos 2020	-	F	-	Spain	-	-	-	-	-	NP	see paper; ..., visceral enlargement; cholestasis; neurological involvement	NPC1	NPC1	2	1	Johan den Dunnen
00434309	Pat6	PubMed: Lopez de Frutos 2020	-	F	-	Spain	-	-	-	-	-	NP	see paper; ..., visceral enlargement; no cholestasis; no neurological involvement	NPC1	NPC1	2	1	Johan den Dunnen
00434310	Pat7	PubMed: Lopez de Frutos 2020	-	M	-	Spain	-	-	-	-	-	NP	see paper; ..., visceral enlargement; no cholestasis; no neurological involvement	NPC1	NPC1	2	1	Johan den Dunnen
00434311	-	PubMed: Lopez de Frutos 2020	analysis 22 cases NPC	-	-	Spain	-	-	-	-	-	NP	-	NPC1	NPC1	1	3	Johan den Dunnen
00434312	patient	PubMed: Hebbar 2016	2-generation family, 1 affected, unaffected heterozygous parents	F	no	India	Asia	-	-	-	-	NP	see paper; ..., normal birth weight; 3m-failure to thrive, cough, loose stools; 5m-delay in motor development, could not hold neck or roll over	-	NPC2	1	1	Johan den Dunnen
00434313	NP3	PubMed: Fancello 2009	-	-	-	Italy	-	-	-	-	-	NP	hepatomegaly (HP:0002240); splenomegaly (HP:0001744); hypotonia (HP:0001252)	NPC1	NPC1	1	2	Johan den Dunnen
00434314	NP10	PubMed: Fancello 2009	-	-	-	Italy	-	3y	-	-	-	NP	classical phenotype; hepatomegaly (HP:0002240); splenomegaly (HP:0001744); cognitive impairment (HP:0100543)/psychomotor delay (HP:0001263); spastic tetraparesis (HP:0001285)	NPC1	NPC1	2	2	Johan den Dunnen
00434315	NP18	PubMed: Fancello 2009	-	-	-	Italy	-	3y	-	-	-	NP	classical phenotype; hepatomegaly (HP:0002240); splenomegaly (HP:0001744); cognitive impairment (HP:0100543)/psychomotor delay (HP:0001263); dysarthria (HP:0001260); dysphagia (HP:0002015); hypotonia (HP:0001252); ataxia (HP:0001251); epilepsy (HP:0001250)	NPC1	NPC1	1	2	Johan den Dunnen
00434316	NP20	PubMed: Fancello 2009	-	-	-	Italy	-	4m	-	-	-	NP	classical phenotype; respiratory distress with interstitial lung infiltration	NPC2	NPC2	1	1	Johan den Dunnen
00434317	NP3sib	PubMed: Fancello 2009	-	-	-	Italy	-	2m	-	-	-	NP	jaundice (HP:0000952)	NPC1	NPC1	1	1	Johan den Dunnen
00434318	NP7	PubMed: Fancello 2009	-	-	-	Italy	-	-	-	-	-	NP	classical phenotype; splenomegaly (HP:0001744); cognitive impairment (HP:0100543)/psychomotor delay (HP:0001263); spastic tetraparesis (HP:0001285)	NPC1	NPC1	1	1	Johan den Dunnen
00434319	NP9	PubMed: Fancello 2009	-	-	-	Italy	-	2m	-	-	-	NP	classical phenotype; hepatomegaly (HP:0002240); splenomegaly (HP:0001744); hypotonia (HP:0001252)	NPC1	NPC1	2	1	Johan den Dunnen
00434320	NP10sib	PubMed: Fancello 2009	-	-	-	Italy	-	2m	-	-	-	NP	jaundice (HP:0000952)	NPC1	NPC1	2	1	Johan den Dunnen
00434321	NP12	PubMed: Fancello 2009	-	-	-	Italy	-	-	-	-	-	NP	splenomegaly (HP:0001744); cognitive impairment (HP:0100543)/psychomotor delay (HP:0001263); ataxia (HP:0001251)	NPC1	NPC1	1	1	Johan den Dunnen
00434322	NP13	PubMed: Fancello 2009	-	-	-	Italy	-	-	-	-	-	NP	hepatomegaly (HP:0002240); splenomegaly (HP:0001744); cognitive impairment (HP:0100543)/psychomotor delay (HP:0001263); ataxia (HP:0001251)	NPC1	NPC1	1	2	Johan den Dunnen
00434323	NP13sib	PubMed: Fancello 2009	-	-	-	Italy	-	-	-	-	-	NP	hepatomegaly (HP:0002240); splenomegaly (HP:0001744); cognitive impairment (HP:0100543)/psychomotor delay (HP:0001263)	NPC1	NPC1	1	1	Johan den Dunnen
00434324	NP14	PubMed: Fancello 2009	-	-	-	Italy	-	-	-	-	-	NP	hepatomegaly (HP:0002240); splenomegaly (HP:0001744); hypotonia (HP:0001252)	NPC1	NPC1	1	1	Johan den Dunnen
00434325	NP16	PubMed: Fancello 2009	-	-	-	Italy	-	-	-	-	-	NP	classical phenotype; hepatomegaly (HP:0002240); splenomegaly (HP:0001744); hypotonia (HP:0001252)	NPC1	NPC1	1	1	Johan den Dunnen
00434326	NP18sib	PubMed: Fancello 2009	-	-	-	Italy	-	4m	-	-	-	NP	jaundice (HP:0000952); hepatomegaly (HP:0002240)	NPC1	NPC1	2	1	Johan den Dunnen
00434327	NP30	PubMed: Fancello 2009	-	-	-	Italy	-	-	-	-	-	NP	hepatomegaly (HP:0002240); splenomegaly (HP:0001744); cognitive impairment (HP:0100543)/psychomotor delay (HP:0001263); vertical gaze paralysis (HP:0000511); dysarthria (HP:0001260); dysphagia (HP:0002015); hypotonia (HP:0001252); ataxia (HP:0001251); epilepsy (HP:0001250)	NPC1	NPC1	1	1	Johan den Dunnen
00434328	NP34	PubMed: Fancello 2009	-	-	-	Italy	-	-	-	-	-	NP	hepatomegaly (HP:0002240); splenomegaly (HP:0001744); cognitive impairment (HP:0100543)/psychomotor delay (HP:0001263); dysarthria (HP:0001260); hypotonia (HP:0001252); respiratory distress with interstitial lung infiltration	NPC2	NPC2	1	2	Johan den Dunnen
00434329	NP34sib	PubMed: Fancello 2009	-	-	-	Italy	-	10m	-	-	-	NP	hepatomegaly (HP:0002240); splenomegaly (HP:0001744); cognitive impairment (HP:0100543)/psychomotor delay (HP:0001263); dysarthria (HP:0001260); hypotonia (HP:0001252); respiratory distress with interstitial lung infiltration	NPC2	NPC2	1	1	Johan den Dunnen
00434330	NP1	PubMed: Fancello 2009	-	-	-	Italy	-	5y	-	-	-	NP	classical phenotype; hepatomegaly (HP:0002240); splenomegaly (HP:0001744); cognitive impairment (HP:0100543)/psychomotor delay (HP:0001263); vertical gaze paralysis (HP:0000511); dysarthria (HP:0001260); dysphagia (HP:0002015); ataxia (HP:0001251); epilepsy (HP:0001250)	NPC1	NPC1	2	1	Johan den Dunnen
00434331	NP2	PubMed: Fancello 2009	-	-	-	Italy	-	10y	-	-	-	NP	classical phenotype; splenomegaly (HP:0001744); cognitive impairment (HP:0100543)/psychomotor delay (HP:0001263); vertical gaze paralysis (HP:0000511); dysarthria (HP:0001260); dysphagia (HP:0002015); ataxia (HP:0001251); epilepsy (HP:0001250)	NPC1	NPC1	1	1	Johan den Dunnen
00434332	NP4	PubMed: Fancello 2009	-	-	-	Italy	-	-	-	-	-	NP	hepatomegaly (HP:0002240); splenomegaly (HP:0001744); cognitive impairment (HP:0100543)/psychomotor delay (HP:0001263); hypotonia (HP:0001252); spastic tetraparesis (HP:0001285)	NPC1	NPC1	1	1	Johan den Dunnen
00434333	NP5	PubMed: Fancello 2009	-	-	-	Italy	-	-	-	-	-	NP	classical phenotype; hepatomegaly (HP:0002240); splenomegaly (HP:0001744); cognitive impairment (HP:0100543)/psychomotor delay (HP:0001263); spastic tetraparesis (HP:0001285)	NPC1	NPC1	2	1	Johan den Dunnen
00434334	NP6	PubMed: Fancello 2009	-	-	-	Italy	-	-	-	-	-	NP	hepatomegaly (HP:0002240); splenomegaly (HP:0001744); dysarthria (HP:0001260); ataxia (HP:0001251); epilepsy (HP:0001250)	NPC1	NPC1	2	1	Johan den Dunnen
00434335	NP11	PubMed: Fancello 2009	-	-	-	Italy	-	-	-	-	-	NP	intermediate phenotype; splenomegaly (HP:0001744); cognitive impairment (HP:0100543)/psychomotor delay (HP:0001263); hypotonia (HP:0001252); ataxia (HP:0001251); epilepsy (HP:0001250); psychotic symptoms (HP:0000725)	NPC1	NPC1	1	1	Johan den Dunnen
00434336	NP15	PubMed: Fancello 2009	-	-	-	Italy	-	-	-	-	-	NP	classical phenotype; hepatomegaly (HP:0002240); splenomegaly (HP:0001744); cognitive impairment (HP:0100543)/psychomotor delay (HP:0001263); dysarthria (HP:0001260); dysphagia (HP:0002015)	NPC1	NPC1	1	1	Johan den Dunnen
00434337	NP17	PubMed: Fancello 2009	-	-	-	Italy	-	5y	-	-	-	NP	hepatomegaly (HP:0002240); splenomegaly (HP:0001744); cognitive impairment (HP:0100543)/psychomotor delay (HP:0001263); spastic tetraparesis (HP:0001285)	NPC1	NPC1	2	1	Johan den Dunnen
00434338	NP19	PubMed: Fancello 2009	-	-	-	Italy	-	-	-	-	-	NP	cognitive impairment (HP:0100543)/psychomotor delay (HP:0001263); vertical gaze paralysis (HP:0000511); dysarthria (HP:0001260); ataxia (HP:0001251); epilepsy (HP:0001250)	NPC1	NPC1	2	2	Johan den Dunnen
00434339	NP25	PubMed: Fancello 2009	-	-	-	Italy	-	-	-	-	-	NP	classical phenotype; hepatomegaly (HP:0002240); splenomegaly (HP:0001744); cognitive impairment (HP:0100543)/psychomotor delay (HP:0001263); vertical gaze paralysis (HP:0000511); dysarthria (HP:0001260); dysphagia (HP:0002015); ataxia (HP:0001251); epilepsy (HP:0001250)	NPC1	NPC1	1	1	Johan den Dunnen
00434340	NP26	PubMed: Fancello 2009	-	-	-	Italy	-	-	-	-	-	NP	classical phenotype; hepatomegaly (HP:0002240); splenomegaly (HP:0001744); cognitive impairment (HP:0100543)/psychomotor delay (HP:0001263); vertical gaze paralysis (HP:0000511); ataxia (HP:0001251); epilepsy (HP:0001250); psychotic symptoms (HP:0000725)	NPC1	NPC1	3	1	Johan den Dunnen
00434341	NP27	PubMed: Fancello 2009	-	-	-	Italy	-	-	-	-	-	NP	hepatomegaly (HP:0002240); splenomegaly (HP:0001744); cognitive impairment (HP:0100543)/psychomotor delay (HP:0001263); vertical gaze paralysis (HP:0000511); dysarthria (HP:0001260); dysphagia (HP:0002015); ataxia (HP:0001251); epilepsy (HP:0001250)	NPC1	NPC1	2	1	Johan den Dunnen
00434342	NP28	PubMed: Fancello 2009	-	-	-	Italy	-	-	-	-	-	NP	classical phenotype; hepatomegaly (HP:0002240); splenomegaly (HP:0001744); cognitive impairment (HP:0100543)/psychomotor delay (HP:0001263); vertical gaze paralysis (HP:0000511); dysarthria (HP:0001260); dysphagia (HP:0002015); epilepsy (HP:0001250); cataplexy	NPC1	NPC1	2	1	Johan den Dunnen
00434343	NP24	PubMed: Fancello 2009	-	-	-	Italy	-	-	-	-	-	NP	classical phenotype; hepatomegaly (HP:0002240); splenomegaly (HP:0001744); cognitive impairment (HP:0100543)/psychomotor delay (HP:0001263); dysarthria (HP:0001260); dysphagia (HP:0002015); hypotonia (HP:0001252); ataxia (HP:0001251); epilepsy (HP:0001250)	NPC1	NPC1	1	3	Johan den Dunnen
00434344	NP24sib	PubMed: Fancello 2009	-	-	-	Italy	-	-	-	-	-	NP	classical phenotype; hepatomegaly (HP:0002240); splenomegaly (HP:0001744)	NPC1	NPC1	1	1	Johan den Dunnen
00434345	NP25sib	PubMed: Fancello 2009	-	-	-	Italy	-	-	-	-	-	NP	classical phenotype; hepatomegaly (HP:0002240); splenomegaly (HP:0001744); vertical gaze paralysis (HP:0000511); dysarthria (HP:0001260); dysphagia (HP:0002015); ataxia (HP:0001251); epilepsy (HP:0001250)	NPC1	NPC1	1	1	Johan den Dunnen
00434346	NP32	PubMed: Fancello 2009	-	-	-	Italy	-	-	-	-	-	NP	classical phenotype; hepatomegaly (HP:0002240); splenomegaly (HP:0001744); cognitive impairment (HP:0100543)/psychomotor delay (HP:0001263); vertical gaze paralysis (HP:0000511); dysarthria (HP:0001260); dysphagia (HP:0002015); hypotonia (HP:0001252); ataxia (HP:0001251); psychotic symptoms (HP:0000725); cataplexy	NPC1	NPC1	1	3	Johan den Dunnen
00434347	NP32sib1	PubMed: Fancello 2009	-	-	-	Italy	-	-	-	-	-	NP	dysarthria (HP:0001260); ataxia (HP:0001251)	NPC1	NPC1	2	1	Johan den Dunnen
00434348	NP32sib2	PubMed: Fancello 2009	-	-	-	Italy	-	-	-	-	-	NP	dysarthria (HP:0001260); ataxia (HP:0001251)	NPC1	NPC1	2	1	Johan den Dunnen
00434349	NP21	PubMed: Fancello 2009	-	-	-	Italy	-	-	-	-	-	NP	classical phenotype; hepatomegaly (HP:0002240); splenomegaly (HP:0001744); cognitive impairment (HP:0100543)/psychomotor delay (HP:0001263); vertical gaze paralysis (HP:0000511); ataxia (HP:0001251); psychotic symptoms (HP:0000725)	NPC1	NPC1	2	1	Johan den Dunnen
00434350	NP23	PubMed: Fancello 2009	-	-	-	Italy	-	-	-	-	-	NP	classical phenotype; hepatomegaly (HP:0002240); splenomegaly (HP:0001744); cognitive impairment (HP:0100543)/psychomotor delay (HP:0001263); vertical gaze paralysis (HP:0000511); dysarthria (HP:0001260); hypotonia (HP:0001252); ataxia (HP:0001251); psychotic symptoms (HP:0000725)	NPC1	NPC1	1	1	Johan den Dunnen
00434351	NP31	PubMed: Fancello 2009	-	-	-	Italy	-	-	-	-	-	NP	epilepsy (HP:0001250); psychotic symptoms (HP:0000725)	NPC1	NPC1	2	1	Johan den Dunnen
00434352	NP33	PubMed: Fancello 2009	-	-	-	Italy	-	-	-	-	-	NP	cognitive impairment (HP:0100543)/psychomotor delay (HP:0001263); vertical gaze paralysis (HP:0000511); dysphagia (HP:0002015); psychotic symptoms (HP:0000725)	NPC1	NPC1	1	1	Johan den Dunnen
00434353	NP8	PubMed: Fancello 2009	-	-	-	Italy	-	-	-	-	-	NP	classical phenotype; hepatomegaly (HP:0002240); splenomegaly (HP:0001744)	NPC1	NPC1	1	1	Johan den Dunnen
00434354	NP19sib	PubMed: Fancello 2009	-	-	-	Italy	-	-	-	-	-	NP	splenomegaly (HP:0001744); 15m-substrate reduction therapy	NPC1	NPC1	2	1	Johan den Dunnen
00434355	NP22	PubMed: Fancello 2009	-	-	-	Italy	-	-	-	-	-	NP	classical phenotype; hepatomegaly (HP:0002240); splenomegaly (HP:0001744)	NPC1	NPC1	2	1	Johan den Dunnen
00434356	NP29	PubMed: Fancello 2009	-	-	-	Italy	-	-	-	-	-	NP	7m-substrate reduction therapy	NPC1	NPC1	1	1	Johan den Dunnen
00434357	Pat3 (88057/NIH99.04)	PubMed: Naureckiene 2000, PubMed: Milat 2001	-	F	no	Italy	-	00y06m	-	-	-	NP	6m-died; neonatal cholestatic icterus, hepatosplenomegaly, respiratory failure (3 affected siblings diagnosed prenatally, pregnancies terminated)	NPC2	NPC2	1	1	Johan den Dunnen
00434358	NPC293.10	PubMed: Naureckiene 2000	-	-	-	United States	-	-	-	-	-	NP	-	NPC2	NPC2	2	1	Johan den Dunnen
00434359	Pat1 (20082)	PubMed: Milat 2001	-	F	no	France	-	6m	-	-	-	NP	hydramnios, 32w-birth cesarean sectio, respiratory distress from birth; 4d-30d-moderate neonatal cholestatic icterus; hepatosplenomegaly, respiratory failure (2 affected siblings diagnosed prenatally, pregnancies were terminated)	NPC2	NPC2	1	1	Johan den Dunnen
00434360	Pat2 (88082)	PubMed: Milat 2001	-	F	no	France	-	6m	-	-	-	NP	fetal 23w-ascites (that recessed); birth hepatosplenomegaly; 1m-cholestatic icterus; 3m-severe respiratory insufficiency, respiratory failure	NPC2	NPC2	2	1	Johan den Dunnen
00434361	Pat4 (93104)	PubMed: Milat 2001	-	F	yes	Germany	-	7m	-	-	-	NP	neonatal period uneventful; 3m-severe interstitial pneumonia, hepatosplenomegaly, respiratory insufficiency, failure (brother with “neonatal hepatitis”, severe lung involvement, 6w-died)	NPC2	NPC2	1	1	Johan den Dunnen
00434362	Pat5 (89095)	PubMed: Milat 2001	-	M	yes	Algeria	-	19m	-	-	-	NP	4m-neonatal cholestatic icterus; pulmonary involvement; 7m-9m-severe motor development delay (15m-sit, no further progress); growth retardation, increasing pulmonary fibrosis, oxygen dependency, respiratory failure	NPC2	NPC2	1	1	Johan den Dunnen
00434363	Pat6 (96059)	PubMed: Milat 2001	-	F	no	Czech Republic	-	4y	-	-	-	NP	failure to thrive (with poor feeding); 1y-hepatospleno-megaly, mild delay motor milestones, severe lung involvement; 20m-oxygen dependent, quadruspasticity	NPC2	NPC2	1	1	Johan den Dunnen
00434364	Pat7 (21033)	PubMed: Milat 2001	-	F	yes	Turkey	-	>20m	-	-	-	NP	no neonatal cholestatic icterus; 11m-respiratory distress, pulmonary infiltration, (hepato-)splenomegaly; 13m-acute respiratory problems, normal psychomotor development; 18m-hypotonia, gait problems (elder brother splenomegaly, 6m- died in Turkey)	NPC2	NPC2	1	1	Johan den Dunnen
00434365	Pat8 (82017/NIH94.85b)	PubMed: Milat 2001	-	F	yes	Algeria	-	>21y	-	-	-	NP	6y5m-splenomegaly;, school problems; 11y-epileptic fits; mental retardation, slow progression, 21y-still able to walk (affected sister similar course, 27y-still alive)	NPC2	NPC2	1	1	Johan den Dunnen
00434366	FamPat2.2/3	PubMed: Klunemann 2002	3-generation family, 2 affected sisters, unaffected heterozygous parents/relatives	F	-	Canada	French-Canadian;Germany;Ireland	-	-	-	-	NP	see paper	NPC1, NPC2	NPC1, NPC2	5	2	Johan den Dunnen
00434367	89021	PubMed: Verot 2007	family, 2 affected sisters	F	-	Italy	-	03y06m	-	-	-	NP	3y6m-deceased; hepatosplenomegaly, delay in psychomotor milestones, hypotonia with hyperreflexia, ataxia	NPC2	NPC2	1	2	Johan den Dunnen
00434368	22073	PubMed: Verot 2007	family, 2 affected brothers	M	-	Italy	-	00y15m	-	-	-	NP	15m-deceased respiratory failure; soon after birth visceromegaly, cholestasis, failure to thrive, progressive lung interstitial involvement	NPC2	NPC2	1	2	Johan den Dunnen
00434369	24060	PubMed: Verot 2007	2-generation family, 1 affected, unaffected heterozygous parents	M	yes	Pakistan	-	8m	-	-	-	NP	neonatal hepatosplenomegaly, developed respiratory distress shortly after birth, failure to thrive; 8m-died of progressive respiratory failure	NPC2	NPC2	1	1	Johan den Dunnen
00434370	25131	PubMed: Verot 2007	2-generation family, 1 affected, unaffected heterozygous parents	F	yes	Sri Lanka	-	1y	-	-	-	NP	4m15d-moderate hepatosplenomegaly, severe pulmonary involvement with hypoxia, severe nutritional problems; 10m15d-bone marrow transplantation, excellent engraftment; 1y-died adenovirus infection	NPC2	NPC2	1	1	Johan den Dunnen
00434371	24084	PubMed: Verot 2007	2-generation family, 1 affected, unaffected heterozygous parents	-	yes	Turkey	-	-	-	-	-	NP	12y-neurological symptoms (tremor, speech problems); 17y6m-severe dystonia, mental retardation, no hepatosplenomegaly	NPC2	NPC2	1	1	Johan den Dunnen
00434372	25046	PubMed: Verot 2007	2-generation family, 1 affected, unaffected heterozygous parents	M	yes	Algeria	-	-	-	-	-	NP	neonatal cholestatic icterus, severe hepatosplenomegaly with ascites, recovery; paternal aunt died at 2m-neonatal cholestatic liver disease	NPC2	NPC2	1	1	Johan den Dunnen
00434374	99010	PubMed: Millat 2005	-	-	-	Belgium	-	2y5m	-	-	-	NP	-	NPC1	NPC1	1	1	Johan den Dunnen
00434375	21124	PubMed: Millat 2005	-	-	-	France	-	4y4m	-	-	-	NP	-	NPC1	NPC1	2	1	Johan den Dunnen
00434376	22032	PubMed: Millat 2005	-	-	-	Pakistan	-	4y6m	-	-	-	NP	-	NPC1	NPC1	2	1	Johan den Dunnen
00434377	93175	PubMed: Millat 2005	-	-	-	Canada	French-Canadian	6m	-	-	-	NP	-	NPC1	NPC1	1	1	Johan den Dunnen
00434378	21133	PubMed: Millat 2005	-	-	-	France	-	-	-	-	-	NP	-	NPC1	NPC1	2	1	Johan den Dunnen
00434379	82042	PubMed: Millat 2005	-	-	-	France	-	5y9m	-	-	-	NP	-	NPC1	NPC1	2	1	Johan den Dunnen
00434380	23050	PubMed: Millat 2005	-	-	-	France;Portugal	-	-	-	-	-	NP	-	NPC1	NPC1	1	1	Johan den Dunnen
00434381	94097	PubMed: Millat 2005	-	-	-	France	-	9m	-	-	-	NP	-	NPC1	NPC1	2	1	Johan den Dunnen
00434382	96127	PubMed: Millat 2005	-	-	-	France	-	8m	-	-	-	NP	-	NPC1	NPC1	2	1	Johan den Dunnen
00434383	23015	PubMed: Millat 2005	-	-	-	France	-	-	-	-	-	NP	-	NPC1	NPC1	2	1	Johan den Dunnen
00434384	94102	PubMed: Millat 2005	-	-	-	France	-	11m	-	-	-	NP	-	NPC1	NPC1	2	1	Johan den Dunnen
00434385	20019	PubMed: Millat 2005	-	-	-	France	-	-	-	-	-	NP	-	NPC1	NPC1	2	1	Johan den Dunnen
00434386	250	PubMed: Millat 2005	-	-	-	France	-	16y6m	-	-	-	NP	-	NPC1	NPC1	2	1	Johan den Dunnen
00434387	85091	PubMed: Millat 2005	-	-	-	France	-	27y	-	-	-	NP	-	NPC1	NPC1	1	1	Johan den Dunnen
00434388	96054	PubMed: Millat 2005	-	-	-	France	-	-	-	-	-	NP	-	NPC1	NPC1	2	1	Johan den Dunnen
00434389	98033	PubMed: Millat 2005	-	-	-	France	-	-	-	-	-	NP	-	NPC1	NPC1	2	1	Johan den Dunnen
00434390	24129	PubMed: Millat 2005	-	-	-	Belgium	-	-	-	-	-	NP	-	NPC1	NPC1	1	1	Johan den Dunnen
00434391	96091	PubMed: Millat 2005	-	-	-	France	-	-	-	-	-	NP	-	NPC1	NPC1	2	1	Johan den Dunnen
00434392	84045	PubMed: Millat 2005	-	-	-	France	-	-	-	-	-	NP	-	NPC1	NPC1	2	1	Johan den Dunnen
00434393	24023	PubMed: Millat 2005	-	-	-	France	-	-	-	-	-	NP	-	NPC1	NPC1	1	1	Johan den Dunnen
00434394	82052	PubMed: Millat 2005	-	-	-	Belgium	-	19y	-	-	-	NP	-	NPC1	NPC1	2	1	Johan den Dunnen
00434395	96092	PubMed: Millat 2005	-	-	-	France	-	-	-	-	-	NP	-	NPC1	NPC1	2	1	Johan den Dunnen
00434396	98142	PubMed: Millat 2005	-	-	-	Germany	-	-	-	-	-	NP	-	NPC1	NPC1	2	1	Johan den Dunnen
00434397	90135	PubMed: Millat 2005	-	-	-	France	-	-	-	-	-	NP	-	NPC1	NPC1	2	1	Johan den Dunnen
00434398	22037	PubMed: Millat 2005	-	-	-	France	-	-	-	-	-	NP	-	NPC1	NPC1	2	1	Johan den Dunnen
00434399	98137	PubMed: Millat 2005	-	-	-	Algeria	-	29y	-	-	-	NP	-	NPC1	NPC1	2	1	Johan den Dunnen
00434400	96157	PubMed: Millat 2005	-	-	-	Germany	-	37y	-	-	-	NP	-	NPC1	NPC1	2	1	Johan den Dunnen
00434401	22108	PubMed: Millat 2005	-	-	-	France	-	-	-	-	-	NP	-	NPC1	NPC1	2	1	Johan den Dunnen
00434402	96133	PubMed: Millat 2005	-	-	-	France	-	-	-	-	-	NP	-	NPC1	NPC1	2	1	Johan den Dunnen

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Global Variome shared LOVD

C12orf55 (chromosome 12 open reading frame 55)