DKCA1
MCID: DYS141
MIFTS: 42
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Dyskeratosis Congenita, Autosomal Dominant 1 (DKCA1)
Categories:
Blood diseases, Bone diseases, Cancer diseases, Eye diseases, Fetal diseases, Genetic diseases, Immune diseases, Neuronal diseases, Rare diseases, Skin diseases
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MalaCards integrated aliases for Dyskeratosis Congenita, Autosomal Dominant 1:
Characteristics:OMIM®:57 (Updated 05-Mar-2021)
Inheritance:
autosomal dominant
Miscellaneous:
highly variable phenotype variable penetrance and expressivity genetic anticipation associated with progressive telomere shortening skin manifestations may not be present median age of diagnosis is 28 years median survival is > 50 years HPO:31Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases Cancer diseases Anatomical: Skin diseases Neuronal diseases Eye diseases Blood diseases Bone diseases Immune diseases |
OMIM® :
57
Dyskeratosis congenita is a rare multisystem disorder caused by defective telomere maintenance. Clinical features are highly variable and include bone marrow failure, predisposition to malignancy, and pulmonary and hepatic fibrosis. The classic clinical triad of abnormal skin pigmentation, leukoplakia, and nail dystrophy is not always observed. Other features include premature graying of the hair, osteoporosis, epiphora, dental abnormalities and testicular atrophy, among others (review by Bessler et al., 2007 and Bessler et al., 2010).
Hoyeraal-Hreidarsson syndrome (HHS) refers to a clinically severe variant of DKC that is characterized by multisystem involvement and early onset in utero. Patients with HHS show intrauterine growth retardation, microcephaly, delayed development, bone marrow failure resulting in immunodeficiency, cerebellar hypoplasia, and sometimes enteropathy. Death often occurs in childhood (summary by Walne et al., 2013).
(127550) (Updated 05-Mar-2021)
MalaCards based summary : Dyskeratosis Congenita, Autosomal Dominant 1, also known as autosomal dominant dyskeratosis congenita 1, is related to dyskeratosis congenita, autosomal recessive 5 and dyskeratosis congenita, autosomal dominant 2. An important gene associated with Dyskeratosis Congenita, Autosomal Dominant 1 is TERC (Telomerase RNA Component), and among its related pathways/superpathways is Lung fibrosis. Affiliated tissues include bone marrow, skin and bone, and related phenotypes are ataxia and carious teeth Disease Ontology : 12 A dyskeratosis congenita that has material basis in an autosomal dominant mutation of TERC on chromosome 3q26.2. |
Human phenotypes related to Dyskeratosis Congenita, Autosomal Dominant 1:31 (show all 25)
Symptoms via clinical synopsis from OMIM®:57 (Updated 05-Mar-2021)Clinical features from OMIM®:127550 (Updated 05-Mar-2021) |
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MalaCards organs/tissues related to Dyskeratosis Congenita, Autosomal Dominant 1:40
Bone Marrow,
Skin,
Bone,
Liver
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Articles related to Dyskeratosis Congenita, Autosomal Dominant 1:(show all 15)
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ClinVar genetic disease variations for Dyskeratosis Congenita, Autosomal Dominant 1:6 (show top 50) (show all 203)
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Search
GEO
for disease gene expression data for Dyskeratosis Congenita, Autosomal Dominant 1.
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Cellular components related to Dyskeratosis Congenita, Autosomal Dominant 1 according to GeneCards Suite gene sharing:
Biological processes related to Dyskeratosis Congenita, Autosomal Dominant 1 according to GeneCards Suite gene sharing:
Molecular functions related to Dyskeratosis Congenita, Autosomal Dominant 1 according to GeneCards Suite gene sharing:
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