Disease #03256 (HYPTSV (hypotrichosis and recurrent skin vesicles), OMIM:613102)

Official abbreviation HYPTSV
Name hypotrichosis and recurrent skin vesicles
OMIM ID 613102
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal recessive
Individuals reported having this disease 3
Phenotype entries for this disease 3
Associated with 1 gene DSC3
Associated tissues -
Disease features -
Remarks -
Date created 2014-09-25 23:29:40 +02:00 (CEST)
Date last edited 2022-07-14 11:04:59 +02:00 (CEST)


Individuals

3 entries on 1 page. Showing entries 1 - 3.
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00108616 - - - - yes Pakistan - - - - - HYPTSV - DCAF17 DCAF17 1 1 Irfan Ullah
00413300 family PubMed: Ayub 2009 4-generation family, 4 affected (3F, M), unaffected heterozygous carrier parents/relatives F;M yes Afghanistan - - - - - HYPTSV see paper;, ..., hypotrichosis, recurrent skin vesicles DSC3 DSC3 1 4 Johan den Dunnen
00413301 patient PubMed: Onoufriadis 2020 2-generation family, 1 affected, unaffected heterozygous carrier parents/sister M - Egypt - - - - - HYPTSV see paper; ..., hypotrichosis - DSC3 1 1 Johan den Dunnen
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