Disease #03508 (DKCB2 (dyskeratosis congenita, autosomal recessive, type 2 (DKCB-2)), OMIM:613987)

Official abbreviation DKCB2
Name dyskeratosis congenita, autosomal recessive, type 2 (DKCB-2)
OMIM ID 613987
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal recessive
Individuals reported having this disease 2
Phenotype entries for this disease 2
Associated with 1 gene NHP2
Associated tissues -
Disease features -
Remarks -
Date created 2014-09-25 23:29:40 +02:00 (CEST)
Date last edited 2021-12-10 21:51:32 +01:00 (CET)


Individuals

2 entries on 1 page. Showing entries 1 - 2.
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00052952 - PubMed: Vulliamy 2008, Journal: Vulliamy 2008 2-generation family, 1 affected, unaffected heterozygous carrier parents M no Turkey - - - - - DKCB2 nail dystrophy, thrombocytopenia, testicular atrophy, opportunistic infections, growth and mental retardation, liver cirrhosis, intracranial calcification NHP2 NHP2 1 1 Johan den Dunnen
00052953 - PubMed: Vulliamy 2008, Journal: Vulliamy 2008 2-generation family, 1 affected, unaffected heterozygous carrier parents M no Turkey - >12y - - - DKCB2 12y-dyskeratosis congenita, mucocutaneous triad of nail dystrophy, leucoplakia, reticulate skin pigmentation; developed peripheral pancytopenia because of progressive bone marrow failure; no other somatic abnormalities reported NHP2 NHP2 2 1 Johan den Dunnen
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