Dyskeratosis Congenita, Autosomal Recessive 5 (DKCB5)

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OMIM 57 615190 Disease Ontology 12 DOID:0070020 DOID:0070022 MedGen 42 C3554656 C3808802 CN169266

MeSH 44 D019871 SNOMED-CT via HPO 69 263681008 258211005 271611007 224958001 16026008 199612005 22033007 84828003 64226004 234532001 119250001 128818009 278453007 87065009 63305008 more UMLS 73 C3554656 C3808802

UniProtKB/Swiss-Prot : ⁷⁵ Dyskeratosis congenita, autosomal dominant, 4: A rare multisystem disorder caused by defective telomere maintenance. It is characterized by progressive bone marrow failure, and the clinical triad of reticulated skin hyperpigmentation, nail dystrophy, and mucosal leukoplakia. Common but variable features include premature graying, aplastic anemia, low platelets, osteoporosis, pulmonary fibrosis, and liver fibrosis among others. Early mortality is often associated with bone marrow failure, infections, fatal pulmonary complications, or malignancy. Dyskeratosis congenita, autosomal recessive, 5: A form of dyskeratosis congenita, a rare multisystem disorder caused by defective telomere maintenance. It is characterized by progressive bone marrow failure, and the clinical triad of reticulated skin hyperpigmentation, nail dystrophy, and mucosal leukoplakia. Common but variable features include premature graying, aplastic anemia, low platelets, osteoporosis, pulmonary fibrosis, and liver fibrosis among others. Early mortality is often associated with bone marrow failure, infections, fatal pulmonary complications, or malignancy. DKCB5 is characterized by onset of bone marrow failure and immunodeficiency in early childhood. Most patients also have growth and developmental delay and cerebellar hypoplasia, consistent with a clinical diagnosis of Hoyeraal-Hreidarsson syndrome.

MalaCards based summary : Dyskeratosis Congenita, Autosomal Recessive 5, also known as dyskeratosis congenita, autosomal recessive, 5, is related to dyskeratosis congenita autosomal dominant and dyskeratosis congenita. An important gene associated with Dyskeratosis Congenita, Autosomal Recessive 5 is RTEL1 (Regulator Of Telomere Elongation Helicase 1). Affiliated tissues include bone, skin and bone marrow, and related phenotypes are global developmental delay and microcephaly

Disease Ontology : ¹² A dyskeratosis congenita that has material basis in an autosomal recessive mutation of RTEL1 on chromosome 20q13.33.

OMIM : ⁵⁷ Dyskeratosis congenita (DKC) is a bone marrow failure syndrome characterized by severely shortened telomeres and diverse clinical symptoms. The classic presentation of DKC includes nail dystrophy, abnormal skin pigmentation, and oral leukoplakia. Hoyeraal-Hreidarsson syndrome (HHS) is a severe clinical variant of DKC that is characterized by intrauterine growth failure, microcephaly, developmental delay, immunodeficiency, bone marrow failure, and cerebellar hypoplasia. Patients with mutations in the RTEL1 gene tend to present with HHS (summary by Walne et al., 2013). For a discussion of genetic heterogeneity of dyskeratosis congenita, see DKCA1 (127550). (615190)

Clinical features from OMIM:

615190

Search Clinical Trials , NIH Clinical Center for Dyskeratosis Congenita, Autosomal Recessive 5

Search GEO for disease gene expression data for Dyskeratosis Congenita, Autosomal Recessive 5.