Disease #01971 (CIPA (pain insensitivity, congenital, with anhidrosis (CIPA)), OMIM:256800)

Official abbreviation	CIPA
Name	pain insensitivity, congenital, with anhidrosis (CIPA)
OMIM ID	256800
Human Phenotype Ontology Project (HPO)	HPO
Inheritance	Autosomal recessive
Individuals reported having this disease	91
Phenotype entries for this disease	90
Associated with 1 gene	NTRK1
Associated tissues	-
Disease features	-
Remarks	-
Date created	2014-09-25 23:29:40 +02:00 (CEST)
Date last edited	2021-10-27 15:31:57 +02:00 (CEST)

Individuals

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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
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Antigua and Barbuda
(Antigua and Barbuda)
Argentina
(Argentina)
Armenia
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Aruba
(Aruba)
Australia
(Australia)
Austria
(Austria)
Azerbaijan
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Bahamas
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Bahrain
(Bahrain)
Bangladesh
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Barbados
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Belarus
(Belarus)
Belgium
(Belgium)
Belize
(Belize)
Benin
(Benin)
Bermuda
(Bermuda)
Bhutan
(Bhutan)
Bolivia
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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
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Dominican Republic
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East Timor
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Ecuador
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Egypt
(Egypt)
El Salvador
(El Salvador)
England
(England)
Equatorial Guinea
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Eritrea
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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
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Martinique
(Martinique)
Mauritania
(Mauritania)
Mauritius
(Mauritius)
Mayotte
(Mayotte)
Mexico
(Mexico)
Micronesia
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Moldova
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Monaco
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Mongolia
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Montserrat
(Montserrat)
Morocco
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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
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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

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Operator	Column type	Example	Matches
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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
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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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91 entries on 1 page. Showing entries 1 - 91.

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
00079675	-	-	-	M	no	Cambodia	white	-	-	-	-	CIPA	-	NTRK1	NTRK1	1	1	Samiha Shaikh
00079676	-	-	-	F	no	-	white	-	-	-	-	CIPA	-	NTRK1	NTRK1	2	1	Samiha Shaikh
00079677	-	-	Sib pair female and male	F;M	yes	-	Pakistani	-	-	-	-	CIPA	-	NTRK1	NTRK1	1	1	Samiha Shaikh
00079678	-	-	-	M	no	-	Pakistani	-	-	-	-	CIPA	-	NTRK1	NTRK1	1	1	Samiha Shaikh
00079679	-	-	-	M	yes	-	Turkish	-	-	-	-	CIPA	-	NTRK1	NTRK1	1	1	Samiha Shaikh
00079712	-	-	-	M	yes	-	Indian	-	-	-	-	CIPA	-	NTRK1	NTRK1	1	1	Samiha Shaikh
00079713	-	-	-	M	yes	-	Indian	-	-	-	-	CIPA	-	NTRK1	NTRK1	1	1	Samiha Shaikh
00081022	-	PubMed: Trujillano 2017	unaffected parents	-	-	-	-	-	-	-	-	CIPA	Insensitivity to pain, congenital, with anhidrosis (OMIM:256800)	NTRK1	NTRK1	1	1	Daniel Trujillano
00217168	11310631-PatV2	PubMed: Houlden 2001	5-generation family, 1 affected, unaffected carriers	M	yes	Pakistan	-	-	-	-	-	CIPA	-	NTRK1	NTRK1	4	1	Johan den Dunnen
00217169	18657423-Pat	PubMed: Wieczorek 2008	-	-	no	Sweden	-	-	-	-	-	CIPA	-	NTRK1	NTRK1	2	1	Johan den Dunnen
00217170	19618435-Pat2	PubMed: Lee 2009	-	-	-	Korea	-	-	-	-	-	CIPA	-	NTRK1	NTRK1	2	1	Peikuan Cong
00217171	11668614-KI113	PubMed: Indo 2001	-	M	-	Italy	-	-	-	-	-	CIPA	-	NTRK1	NTRK1	1	1	Peikuan Cong
00217172	11668614-KI111	PubMed: Indo 2001	-	F	-	Kuwait	-	-	-	-	-	CIPA	-	NTRK1	NTRK1	1	1	Peikuan Cong
00217173	-	PubMed: Ohto 2004	-	F	-	Japan	-	-	-	-	-	CIPA	frequent bone fractures, absent sweating	NTRK1	NTRK1	2	1	Johan den Dunnen
00217174	12949319-Pat	PubMed: Bonkowsky 2001	-	M	-	United States	white	-	-	-	-	CIPA	ooth loss, palmarhperkeratosis	NTRK1	NTRK1	2	1	Peikuan Cong
00217175	08696348-KI01	PubMed: Indo 1996	2-generation family, 1 affected	F	-	Japan	-	-	-	-	-	CIPA	-	NTRK1	NTRK1	1	1	Peikuan Cong
00217176	18077166-ER21691	PubMed: Huehne 2008	3-generation family, 1 affected	-	no	France	-	-	-	-	-	CIPA	-	NTRK1	NTRK1	2	1	Johan den Dunnen
00217177	18077166-ER16407	PubMed: Huehne 2008	4-generation family, 3 affecteds	-	yes	Turkey	-	-	-	-	-	CIPA	-	NTRK1	NTRK1	1	3	Johan den Dunnen
00217178	08696348-KI02	PubMed: Indo 1996	2-generation family, 1 affected	F	-	Japan	-	-	-	-	-	CIPA	-	NTRK1	NTRK1	1	1	Peikuan Cong
00217179	10233776-Pat	PubMed: Yotsumoto 1999	5-generation family, 2 affecteds	-	yes	Japan	-	-	-	-	-	CIPA	-	NTRK1	NTRK1	1	2	Johan den Dunnen
00217180	19651702-CMT841.01	PubMed: Rotthier 2009	patient and affected sibling	-	-	Netherlands	Moroccan	-	-	-	-	CIPA	-	NTRK1	NTRK1	1	2	Johan den Dunnen
00217182	10330344-KI107	PubMed: Mardy 1999	-	-	no	Italy	-	-	-	-	-	CIPA	-	NTRK1	NTRK1	1	1	Peikuan Cong
00217183	11139246-Pat	PubMed: Bodzioch 2000	3-generation family, 1 affected	M	-	Poland	-	-	-	-	-	CIPA	-	NTRK1	NTRK1	5	1	Peikuan Cong
00217185	08696348-PatX	PubMed: Indo 1996	2nd patient	-	-	Japan	-	-	-	-	-	CIPA	-	NTRK1	NTRK1	1	1	Johan den Dunnen
00217186	10861667-Fam	PubMed: Shatzky 2000	8 different families	-	-	Israel	Bedouin	-	-	-	-	CIPA	-	NTRK1	NTRK1	1	8	Peikuan Cong
00217187	16373086-PN1192.3	PubMed: Verpoorten 2005, PubMed: Rotthier 2009	-	F	yes	Netherlands	Moroccan	-	-	-	-	CIPA	-	NTRK1	NTRK1	1	1	Peikuan Cong
00217188	10330344-KI104	PubMed: Mardy 1999	2-generation family, 1 affected, unaffected carrier parents	M	yes	Spain	-	-	-	-	-	CIPA	-	NTRK1	NTRK1	1	1	Peikuan Cong
00217189	10330344-KI103	PubMed: Mardy 1999	2-generation family, 2 affecteds, unaffected carrier parents/2 brothers	F	yes	Kuwait	-	-	-	-	-	CIPA	-	NTRK1	NTRK1	1	2	Peikuan Cong
00217190	19250380-Fam1	PubMed: Suriu 2009	3-generation family, 2 affecteds. 7 unaffected carriers	-	-	Morocco	Jewish	-	-	-	-	CIPA	-	NTRK1	-	-	9	Johan den Dunnen
00217191	20647579-Pat	PubMed: Lin 2010	2-generation family, 1 affected, unaffected parents	-	-	Taiwan	-	-	-	-	-	CIPA	-	NTRK1	NTRK1	1	1	Peikuan Cong
00217192	10330344-KI105	PubMed: Mardy 1999	2-generation family, 2 affected sisters, unaffected carrier parents/sister	F	yes	Kuwait	-	-	-	-	-	CIPA	-	NTRK1	NTRK1	1	2	Peikuan Cong
00217193	18162686-Pat	PubMed: Shalimar 2007	3-generation family, 3 affecteds	-	-	Malaysia	-	-	-	-	-	CIPA	-	NTRK1	NTRK1	4	3	Peikuan Cong
00217194	11668614-KI25	PubMed: Indo 2001	-	F	-	Japan	-	-	-	-	-	CIPA	-	NTRK1	NTRK1	2	1	Peikuan Cong
00217195	18077166-ER16901	PubMed: Huehne 2008	2-generation family, 1 affected	-	no	Germany	-	-	-	-	-	CIPA	-	NTRK1	NTRK1	1	1	Peikuan Cong
00217196	18077166-ER21357	PubMed: Huehne 2008	2-generation family, 2 affecteds, unaffected carrier parents/2 brothers	-	yes	Turkey	-	-	-	-	-	CIPA	-	NTRK1	NTRK1	1	2	Peikuan Cong
00217197	19618435-Pat1	PubMed: Lee 2009	-	-	-	Korea	-	-	-	-	-	CIPA	-	NTRK1	NTRK1	2	1	Peikuan Cong
00217198	11668614-KI114	PubMed: Indo 2001	-	F	-	Italy	-	-	-	-	-	CIPA	-	NTRK1	NTRK1	2	1	Peikuan Cong
00217199	11668614-KI116	PubMed: Indo 2001	-	F	-	Netherlands	-	-	-	-	-	CIPA	-	NTRK1	NTRK1	1	1	Peikuan Cong
00217200	-	PubMed: Ohto 2004	-	-	-	Japan	-	-	-	-	-	CIPA	frequent bone fractures, absent sweating	NTRK1	-	-	1	Johan den Dunnen
00217201	18322713-NG46	PubMed: Tuysuz 2008	3-generation family, 1 affected	-	yes	Turkey	-	-	-	-	-	CIPA	-	NTRK1	NTRK1	1	1	Peikuan Cong
00217202	10090906-Pat1	PubMed: Greco 1999	2-generation family, 1 affected	M	-	Italy	-	-	-	-	-	CIPA	-	NTRK1	NTRK1	1	1	Peikuan Cong
00217203	18322713-NG72	PubMed: Tuysuz 2008	4-generation family, 1 affected	-	yes	Turkey	-	-	-	-	-	CIPA	-	NTRK1	NTRK1	1	1	Peikuan Cong
00217204	10330344-KI102	PubMed: Mardy 1999	2-generation family, 1 affected, unaffected carrier parents	M	yes	United Arab Emirates	-	-	-	-	-	CIPA	-	NTRK1	NTRK1	2	1	Peikuan Cong
00217205	10330344-KI106	PubMed: Mardy 1999	2-generation family, 1 affected, unaffected carrier parents	F	yes	Italy	-	-	-	-	-	CIPA	-	NTRK1	INSRR, NTRK1	3	1	Peikuan Cong
00217206	19618435-Pat3	PubMed: Lee 2009	-	-	-	Korea	-	-	-	-	-	CIPA	-	NTRK1	NTRK1	1	1	Peikuan Cong
00217207	18322713-NG48	PubMed: Tuysuz 2008	3-generation family, 1 affected	-	yes	Turkey	-	-	-	-	-	CIPA	-	NTRK1	NTRK1	1	1	Peikuan Cong
00217208	18322713-NG51	PubMed: Tuysuz 2008	3-generation family, 1 affected	-	yes	Turkey	-	-	-	-	-	CIPA	-	NTRK1	NTRK1	1	1	Peikuan Cong
00217209	11668614-KI109	PubMed: Indo 2001	-	M	-	Kuwait	-	-	-	-	-	CIPA	-	NTRK1	NTRK1	1	1	Peikuan Cong
00217210	16373086-CMT179.1	PubMed: Verpoorten 2005, PubMed: Rotthier 2009	-	M	-	Belgium	-	-	-	-	-	CIPA	-	NTRK1	NTRK1	1	1	Peikuan Cong
00217211	10330344-KI108	PubMed: Mardy 1999	-	-	no	Canada	Czech;UK-German	-	-	-	-	CIPA	-	NTRK1	NTRK1	2	1	Peikuan Cong
00217212	18077166-ER20374	PubMed: Huehne 2008	-	-	no	Germany	-	-	-	-	-	CIPA	-	NTRK1	NTRK1	1	1	Johan den Dunnen
00217214	08696348-GM08382	PubMed: Indo 1996	2-generation family, 2 affected brothers (GM08382, GM08383)	M	-	Ecuador	-	-	-	-	-	CIPA	-	NTRK1	NTRK1	1	2	Johan den Dunnen
00217217	10861667-Pat	PubMed: Shatzky 2000	8 different patients	-	-	Israel	Bedouin	-	-	-	-	CIPA	-	NTRK1	NTRK1	1	8	Peikuan Cong
00217220	10861667-FamNor	PubMed: Shatzky 2000	-	-	-	Israel	Bedouin	-	-	-	-	CIPA	-	NTRK1	NTRK1	1	1	Peikuan Cong
00217222	10982191-KI03	PubMed: Miura 2000	-	-	-	Japan	-	-	-	-	-	CIPA	-	NTRK1	NTRK1	1	1	Johan den Dunnen
00217223	10982191-KI04	PubMed: Miura 2000	-	-	-	Japan	-	-	-	-	-	CIPA	-	NTRK1	NTRK1	2	1	Johan den Dunnen
00217224	10982191-KI05	PubMed: Miura 2000	-	-	-	Japan	-	-	-	-	-	CIPA	-	NTRK1	NTRK1	1	1	Johan den Dunnen
00217225	10982191-KI06	PubMed: Miura 2000	-	-	-	Japan	-	-	-	-	-	CIPA	-	NTRK1	NTRK1	1	1	Johan den Dunnen
00217226	10982191-KI07	PubMed: Miura 2000	-	-	-	Japan	-	-	-	-	-	CIPA	-	NTRK1	NTRK1	2	1	Johan den Dunnen
00217227	10982191-KI08	PubMed: Miura 2000	-	-	-	Japan	-	-	-	-	-	CIPA	-	NTRK1	NTRK1	2	1	Johan den Dunnen
00217228	10982191-KI09	PubMed: Miura 2000	-	-	-	Japan	-	-	-	-	-	CIPA	-	NTRK1	NTRK1	1	1	Johan den Dunnen
00217229	10982191-KI10	PubMed: Miura 2000	-	-	-	Japan	-	-	-	-	-	CIPA	-	NTRK1	NTRK1	2	1	Peikuan Cong
00217230	10982191-KI11	PubMed: Miura 2000	-	-	-	Japan	-	-	-	-	-	CIPA	-	NTRK1	NTRK1	1	1	Johan den Dunnen
00217231	10982191-KI12	PubMed: Miura 2000	-	-	-	Japan	-	-	-	-	-	CIPA	-	NTRK1	NTRK1	2	1	Peikuan Cong
00217232	10982191-KI13	PubMed: Miura 2000	-	-	-	Japan	-	-	-	-	-	CIPA	-	NTRK1	NTRK1	2	1	Johan den Dunnen
00217233	10982191-KI14	PubMed: Miura 2000	-	-	-	Japan	-	-	-	-	-	CIPA	-	NTRK1	NTRK1	2	1	Johan den Dunnen
00217234	10982191-KI15	PubMed: Miura 2000	-	-	-	Japan	-	-	-	-	-	CIPA	-	NTRK1	NTRK1	2	1	Johan den Dunnen
00217235	10982191-KI16	PubMed: Miura 2000	-	-	-	Japan	-	-	-	-	-	CIPA	-	NTRK1	NTRK1	2	1	Johan den Dunnen
00217236	10982191-KI17	PubMed: Miura 2000	-	-	-	Japan	-	-	-	-	-	CIPA	-	NTRK1	NTRK1	2	1	Johan den Dunnen
00217237	10982191-KI18	PubMed: Miura 2000, OMIM:var0007	-	-	-	Japan	-	-	-	-	-	CIPA	-	NTRK1	NTRK1	2	1	Johan den Dunnen
00217238	10982191-KI19	PubMed: Miura 2000	-	-	-	Japan	-	-	-	-	-	CIPA	-	NTRK1	NTRK1	2	1	Johan den Dunnen
00217239	10982191-KI20	PubMed: Miura 2000	-	-	-	Japan	-	-	-	-	-	CIPA	-	NTRK1	NTRK1	1	1	Johan den Dunnen
00217240	10982191-KI21	PubMed: Miura 2000	2-generation family, 1 affected	-	-	Japan	-	-	-	-	-	CIPA	-	NTRK1	NTRK1	2	1	Johan den Dunnen
00217241	10982191-KI22	PubMed: Miura 2000	-	-	-	Japan	-	-	-	-	-	CIPA	-	NTRK1	NTRK1	1	1	Johan den Dunnen
00217242	10982191-KI23	PubMed: Miura 2000	-	-	-	Japan	-	-	-	-	-	CIPA	-	NTRK1	NTRK1	2	1	Johan den Dunnen
00217264	11668614-KI110	PubMed: Indo 2001	-	M	-	Kuwait	-	-	-	-	-	CIPA	-	NTRK1	NTRK1	1	1	Peikuan Cong
00217265	11668614-KI112	PubMed: Indo 2001	-	M	-	Italy	-	-	-	-	-	CIPA	-	NTRK1	NTRK1	1	1	Peikuan Cong
00217266	11668614-KI115	PubMed: Indo 2001	-	M	-	United States	Mexico	-	-	-	-	CIPA, pyr.kin. deficiency	pyruvate kinase deficiency	NTRK1	NTRK1, PKLR	2	1	Peikuan Cong
00217267	16373086-CMT197.1	PubMed: Verpoorten 2005, PubMed: Rotthier 2009	-	M	-	Belgium	-	-	-	-	-	CIPA	-	NTRK1	NTRK1	1	1	Peikuan Cong
00217268	16373086-CMT366.1	PubMed: Verpoorten 2005, PubMed: Rotthier 2009	-	F	-	Netherlands	-	-	-	-	-	CIPA	-	NTRK1	NTRK1	1	1	Peikuan Cong
00217281	18322713-NG80	PubMed: Tuysuz 2008	3-generation family, 1 affected	-	yes	Turkey	-	-	-	-	-	CIPA	-	NTRK1	NTRK1	1	1	Peikuan Cong
00217282	18322713-NG73	PubMed: Tuysuz 2008	5-generation family, 1 affected	-	yes	Turkey	-	-	-	-	-	CIPA	-	NTRK1	NTRK1	1	1	Peikuan Cong
00217283	19250380-Fam2	PubMed: Suriu 2009	4-generation family, 2 affecteds. 3 unaffected carriers	-	-	Morocco	Jewish	-	-	-	-	CIPA	-	NTRK1	-	-	9	Johan den Dunnen
00217284	19651702-CMT826.01	PubMed: Rotthier 2009	-	-	-	Spain	-	-	-	-	-	CIPA	hypogammaglobulinemia	NTRK1	NTRK1	1	1	Johan den Dunnen
00217285	19651702-CMT886.01	PubMed: Rotthier 2009	-	-	-	Turkey	-	-	-	-	-	CIPA	hypogammaglobulinemia	NTRK1	NTRK1	1	1	Johan den Dunnen
00217298	19618435-Pat4	PubMed: Lee 2009	-	-	-	Korea	-	-	-	-	-	CIPA	-	NTRK1	NTRK1	1	1	Peikuan Cong
00218057	19250380-Fam1	PubMed: Suriu 2009	3-generation family, affected sister/brother, unaffected heterozygous carrier parents/relatives	F;M	no	Israel	Morocco;Jewish	-	-	-	-	CIPA	see paper; ...	NTRK1	NTRK1	1	2	Johan den Dunnen
00218059	21708027-Pat	PubMed: Sarasola 2011	2-generation family, 1 affected, unaffected heterozygous carrier parents/relatives	F	no	Spain	-	-	-	-	-	CIPA	see paper; ...	NTRK1	NTRK1	2	1	Johan den Dunnen
00361766	-	-	-	-	-	-	-	-	-	-	-	CIPA	Developmental delay, increased serum creatine phosphokinase, family history of elder sibling with pain insensitivity	-	NTRK1, PYGM	2	1	Anju Shukla
00361894	-	-	-	-	-	-	-	-	-	-	-	CIPA, GSD5	Developmental delay, increased serum creatine phosphokinase, family history of elder sibling with pain insensitivity	-	NTRK1, PYGM	2	1	Anju Shukla
00380790	?	PubMed: Nair 2018	-	?	-	Lebanon	-	-	-	-	-	CIPA	DD; ID; anhydrosis; insensitivity to pain (Neurological)	-	NTRK1	1	1	LOVD

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How to query

Global Variome shared LOVD

NTRK1 (neurotrophic tyrosine kinase, receptor, type 1)