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 -


Individuals

91 entries on 1 page. Showing entries 1 - 91.
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00079675 - - - M no Cambodia white - 0 - - CIPA - NTRK1 NTRK1 1 1 Samiha Shaikh
00079676 - - - F no - white - 0 - - CIPA - NTRK1 NTRK1 2 1 Samiha Shaikh
00079677 - - Sib pair female and male F;M yes - Pakistani - 0 - - CIPA - NTRK1 NTRK1 1 1 Samiha Shaikh
00079678 - - - M no - Pakistani - 0 - - CIPA - NTRK1 NTRK1 1 1 Samiha Shaikh
00079679 - - - M yes - Turkish - 0 - - CIPA - NTRK1 NTRK1 1 1 Samiha Shaikh
00079712 - - - M yes - Indian - 0 - - CIPA - NTRK1 NTRK1 1 1 Samiha Shaikh
00079713 - - - M yes - Indian - 0 - - CIPA - NTRK1 NTRK1 1 1 Samiha Shaikh
00081022 - PubMed: Trujillano 2017 unaffected parents - - - - - 0 - - 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 - - 0 - - CIPA - NTRK1 NTRK1 4 1 Johan den Dunnen
00217169 18657423-Pat PubMed: Wieczorek 2008 - - no Sweden - - 0 - - CIPA - NTRK1 NTRK1 2 1 Johan den Dunnen
00217170 19618435-Pat2 PubMed: Lee 2009 - - - Korea - - 0 - - CIPA - NTRK1 NTRK1 2 1 Peikuan Cong
00217171 11668614-KI113 PubMed: Indo 2001 - M - Italy - - 0 - - CIPA - NTRK1 NTRK1 1 1 Peikuan Cong
00217172 11668614-KI111 PubMed: Indo 2001 - F - Kuwait - - 0 - - CIPA - NTRK1 NTRK1 1 1 Peikuan Cong
00217173 - PubMed: Ohto 2004 - F - Japan - - 0 - - CIPA frequent bone fractures, absent sweating NTRK1 NTRK1 2 1 Johan den Dunnen
00217174 12949319-Pat PubMed: Bonkowsky 2001 - M - United States white - 0 - - CIPA ooth loss, palmarhperkeratosis NTRK1 NTRK1 2 1 Peikuan Cong
00217175 08696348-KI01 PubMed: Indo 1996 2-generation family, 1 affected F - Japan - - 0 - - CIPA - NTRK1 NTRK1 1 1 Peikuan Cong
00217176 18077166-ER21691 PubMed: Huehne 2008 3-generation family, 1 affected - no France - - 0 - - CIPA - NTRK1 NTRK1 2 1 Johan den Dunnen
00217177 18077166-ER16407 PubMed: Huehne 2008 4-generation family, 3 affecteds - yes Turkey - - 0 - - CIPA - NTRK1 NTRK1 1 3 Johan den Dunnen
00217178 08696348-KI02 PubMed: Indo 1996 2-generation family, 1 affected F - Japan - - 0 - - CIPA - NTRK1 NTRK1 1 1 Peikuan Cong
00217179 10233776-Pat PubMed: Yotsumoto 1999 5-generation family, 2 affecteds - yes Japan - - 0 - - CIPA - NTRK1 NTRK1 1 2 Johan den Dunnen
00217180 19651702-CMT841.01 PubMed: Rotthier 2009 patient and affected sibling - - Netherlands Moroccan - 0 - - CIPA - NTRK1 NTRK1 1 2 Johan den Dunnen
00217182 10330344-KI107 PubMed: Mardy 1999 - - no Italy - - 0 - - CIPA - NTRK1 NTRK1 1 1 Peikuan Cong
00217183 11139246-Pat PubMed: Bodzioch 2000 3-generation family, 1 affected M - Poland - - 0 - - CIPA - NTRK1 NTRK1 5 1 Peikuan Cong
00217185 08696348-PatX PubMed: Indo 1996 2nd patient - - Japan - - 0 - - CIPA - NTRK1 NTRK1 1 1 Johan den Dunnen
00217186 10861667-Fam PubMed: Shatzky 2000 8 different families - - Israel Bedouin - 0 - - CIPA - NTRK1 NTRK1 1 8 Peikuan Cong
00217187 16373086-PN1192.3 PubMed: Verpoorten 2005, PubMed: Rotthier 2009 - F yes Netherlands Moroccan - 0 - - CIPA - NTRK1 NTRK1 1 1 Peikuan Cong
00217188 10330344-KI104 PubMed: Mardy 1999 2-generation family, 1 affected, unaffected carrier parents M yes Spain - - 0 - - 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 - - 0 - - CIPA - NTRK1 NTRK1 1 2 Peikuan Cong
00217190 19250380-Fam1 PubMed: Suriu 2009 3-generation family, 2 affecteds. 7 unaffected carriers - - Morocco Jewish - 0 - - CIPA - NTRK1 - 0 9 Johan den Dunnen
00217191 20647579-Pat PubMed: Lin 2010 2-generation family, 1 affected, unaffected parents - - Taiwan - - 0 - - 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 - - 0 - - CIPA - NTRK1 NTRK1 1 2 Peikuan Cong
00217193 18162686-Pat PubMed: Shalimar 2007 3-generation family, 3 affecteds - - Malaysia - - 0 - - CIPA - NTRK1 NTRK1 4 3 Peikuan Cong
00217194 11668614-KI25 PubMed: Indo 2001 - F - Japan - - 0 - - CIPA - NTRK1 NTRK1 2 1 Peikuan Cong
00217195 18077166-ER16901 PubMed: Huehne 2008 2-generation family, 1 affected - no Germany - - 0 - - 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 - - 0 - - CIPA - NTRK1 NTRK1 1 2 Peikuan Cong
00217197 19618435-Pat1 PubMed: Lee 2009 - - - Korea - - 0 - - CIPA - NTRK1 NTRK1 2 1 Peikuan Cong
00217198 11668614-KI114 PubMed: Indo 2001 - F - Italy - - 0 - - CIPA - NTRK1 NTRK1 2 1 Peikuan Cong
00217199 11668614-KI116 PubMed: Indo 2001 - F - Netherlands - - 0 - - CIPA - NTRK1 NTRK1 1 1 Peikuan Cong
00217200 - PubMed: Ohto 2004 - - - Japan - - 0 - - CIPA frequent bone fractures, absent sweating NTRK1 - 0 1 Johan den Dunnen
00217201 18322713-NG46 PubMed: Tuysuz 2008 3-generation family, 1 affected - yes Turkey - - 0 - - CIPA - NTRK1 NTRK1 1 1 Peikuan Cong
00217202 10090906-Pat1 PubMed: Greco 1999 2-generation family, 1 affected M - Italy - - 0 - - CIPA - NTRK1 NTRK1 1 1 Peikuan Cong
00217203 18322713-NG72 PubMed: Tuysuz 2008 4-generation family, 1 affected - yes Turkey - - 0 - - 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 - - 0 - - CIPA - NTRK1 NTRK1 2 1 Peikuan Cong
00217205 10330344-KI106 PubMed: Mardy 1999 2-generation family, 1 affected, unaffected carrier parents F yes Italy - - 0 - - CIPA - NTRK1 INSRR, NTRK1 3 1 Peikuan Cong
00217206 19618435-Pat3 PubMed: Lee 2009 - - - Korea - - 0 - - CIPA - NTRK1 NTRK1 1 1 Peikuan Cong
00217207 18322713-NG48 PubMed: Tuysuz 2008 3-generation family, 1 affected - yes Turkey - - 0 - - CIPA - NTRK1 NTRK1 1 1 Peikuan Cong
00217208 18322713-NG51 PubMed: Tuysuz 2008 3-generation family, 1 affected - yes Turkey - - 0 - - CIPA - NTRK1 NTRK1 1 1 Peikuan Cong
00217209 11668614-KI109 PubMed: Indo 2001 - M - Kuwait - - 0 - - CIPA - NTRK1 NTRK1 1 1 Peikuan Cong
00217210 16373086-CMT179.1 PubMed: Verpoorten 2005, PubMed: Rotthier 2009 - M - Belgium - - 0 - - CIPA - NTRK1 NTRK1 1 1 Peikuan Cong
00217211 10330344-KI108 PubMed: Mardy 1999 - - no Canada Czech;UK-German - 0 - - CIPA - NTRK1 NTRK1 2 1 Peikuan Cong
00217212 18077166-ER20374 PubMed: Huehne 2008 - - no Germany - - 0 - - CIPA - NTRK1 NTRK1 1 1 Johan den Dunnen
00217214 08696348-GM08382 PubMed: Indo 1996 2-generation family, 2 affected brothers (GM08382, GM08383) M - Ecuador - - 0 - - CIPA - NTRK1 NTRK1 1 2 Johan den Dunnen
00217217 10861667-Pat PubMed: Shatzky 2000 8 different patients - - Israel Bedouin - 0 - - CIPA - NTRK1 NTRK1 1 8 Peikuan Cong
00217220 10861667-FamNor PubMed: Shatzky 2000 - - - Israel Bedouin - 0 - - CIPA - NTRK1 NTRK1 1 1 Peikuan Cong
00217222 10982191-KI03 PubMed: Miura 2000 - - - Japan - - 0 - - CIPA - NTRK1 NTRK1 1 1 Johan den Dunnen
00217223 10982191-KI04 PubMed: Miura 2000 - - - Japan - - 0 - - CIPA - NTRK1 NTRK1 2 1 Johan den Dunnen
00217224 10982191-KI05 PubMed: Miura 2000 - - - Japan - - 0 - - CIPA - NTRK1 NTRK1 1 1 Johan den Dunnen
00217225 10982191-KI06 PubMed: Miura 2000 - - - Japan - - 0 - - CIPA - NTRK1 NTRK1 1 1 Johan den Dunnen
00217226 10982191-KI07 PubMed: Miura 2000 - - - Japan - - 0 - - CIPA - NTRK1 NTRK1 2 1 Johan den Dunnen
00217227 10982191-KI08 PubMed: Miura 2000 - - - Japan - - 0 - - CIPA - NTRK1 NTRK1 2 1 Johan den Dunnen
00217228 10982191-KI09 PubMed: Miura 2000 - - - Japan - - 0 - - CIPA - NTRK1 NTRK1 1 1 Johan den Dunnen
00217229 10982191-KI10 PubMed: Miura 2000 - - - Japan - - 0 - - CIPA - NTRK1 NTRK1 2 1 Peikuan Cong
00217230 10982191-KI11 PubMed: Miura 2000 - - - Japan - - 0 - - CIPA - NTRK1 NTRK1 1 1 Johan den Dunnen
00217231 10982191-KI12 PubMed: Miura 2000 - - - Japan - - 0 - - CIPA - NTRK1 NTRK1 2 1 Peikuan Cong
00217232 10982191-KI13 PubMed: Miura 2000 - - - Japan - - 0 - - CIPA - NTRK1 NTRK1 2 1 Johan den Dunnen
00217233 10982191-KI14 PubMed: Miura 2000 - - - Japan - - 0 - - CIPA - NTRK1 NTRK1 2 1 Johan den Dunnen
00217234 10982191-KI15 PubMed: Miura 2000 - - - Japan - - 0 - - CIPA - NTRK1 NTRK1 2 1 Johan den Dunnen
00217235 10982191-KI16 PubMed: Miura 2000 - - - Japan - - 0 - - CIPA - NTRK1 NTRK1 2 1 Johan den Dunnen
00217236 10982191-KI17 PubMed: Miura 2000 - - - Japan - - 0 - - CIPA - NTRK1 NTRK1 2 1 Johan den Dunnen
00217237 10982191-KI18 PubMed: Miura 2000, OMIM:var0007 - - - Japan - - 0 - - CIPA - NTRK1 NTRK1 2 1 Johan den Dunnen
00217238 10982191-KI19 PubMed: Miura 2000 - - - Japan - - 0 - - CIPA - NTRK1 NTRK1 2 1 Johan den Dunnen
00217239 10982191-KI20 PubMed: Miura 2000 - - - Japan - - 0 - - CIPA - NTRK1 NTRK1 1 1 Johan den Dunnen
00217240 10982191-KI21 PubMed: Miura 2000 2-generation family, 1 affected - - Japan - - 0 - - CIPA - NTRK1 NTRK1 2 1 Johan den Dunnen
00217241 10982191-KI22 PubMed: Miura 2000 - - - Japan - - 0 - - CIPA - NTRK1 NTRK1 1 1 Johan den Dunnen
00217242 10982191-KI23 PubMed: Miura 2000 - - - Japan - - 0 - - CIPA - NTRK1 NTRK1 2 1 Johan den Dunnen
00217264 11668614-KI110 PubMed: Indo 2001 - M - Kuwait - - 0 - - CIPA - NTRK1 NTRK1 1 1 Peikuan Cong
00217265 11668614-KI112 PubMed: Indo 2001 - M - Italy - - 0 - - CIPA - NTRK1 NTRK1 1 1 Peikuan Cong
00217266 11668614-KI115 PubMed: Indo 2001 - M - United States Mexico - 0 - - 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 - - 0 - - CIPA - NTRK1 NTRK1 1 1 Peikuan Cong
00217268 16373086-CMT366.1 PubMed: Verpoorten 2005, PubMed: Rotthier 2009 - F - Netherlands - - 0 - - CIPA - NTRK1 NTRK1 1 1 Peikuan Cong
00217281 18322713-NG80 PubMed: Tuysuz 2008 3-generation family, 1 affected - yes Turkey - - 0 - - CIPA - NTRK1 NTRK1 1 1 Peikuan Cong
00217282 18322713-NG73 PubMed: Tuysuz 2008 5-generation family, 1 affected - yes Turkey - - 0 - - CIPA - NTRK1 NTRK1 1 1 Peikuan Cong
00217283 19250380-Fam2 PubMed: Suriu 2009 4-generation family, 2 affecteds. 3 unaffected carriers - - Morocco Jewish - 0 - - CIPA - NTRK1 - 0 9 Johan den Dunnen
00217284 19651702-CMT826.01 PubMed: Rotthier 2009 - - - Spain - - 0 - - CIPA hypogammaglobulinemia NTRK1 NTRK1 1 1 Johan den Dunnen
00217285 19651702-CMT886.01 PubMed: Rotthier 2009 - - - Turkey - - 0 - - CIPA hypogammaglobulinemia NTRK1 NTRK1 1 1 Johan den Dunnen
00217298 19618435-Pat4 PubMed: Lee 2009 - - - Korea - - 0 - - 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 - 0 - - 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 - - 0 - - 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 - - 0 - - CIPA DD; ID; anhydrosis; insensitivity to pain (Neurological) - NTRK1 1 1 LOVD
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