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DKCB5
MCID: DYS152
MIFTS: 40
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Dyskeratosis Congenita, Autosomal Recessive 5 (DKCB5)
Categories:
Blood diseases, Bone diseases, Eye diseases, Fetal diseases, Genetic diseases, Immune diseases, Liver diseases, Neuronal diseases, Rare diseases, Skin diseases
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MalaCards integrated aliases for Dyskeratosis Congenita, Autosomal Recessive 5:
Name: Dyskeratosis Congenita, Autosomal Recessive 5
56
Characteristics:OMIM:56
Inheritance:
autosomal recessive autosomal dominant
Miscellaneous:
variable severity onset in early childhood some patients may be asymptomatic and have only short telomeres affected individuals may have biallelic or heterozygous mutations HPO:31
dyskeratosis congenita, autosomal recessive 5:
Inheritance autosomal dominant inheritance autosomal recessive inheritance Onset and clinical course variable expressivity Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases Anatomical: Skin diseases Neuronal diseases Eye diseases Blood diseases Bone diseases Immune diseases Liver diseases |
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UniProtKB/Swiss-Prot :
73
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 and fanconi anemia, complementation group j. An important gene associated with Dyskeratosis Congenita, Autosomal Recessive 5 is RTEL1 (Regulator Of Telomere Elongation Helicase 1). Affiliated tissues include bone, bone marrow and skin, and related phenotypes are global developmental delay and cerebellar hypoplasia Disease Ontology : 12 A dyskeratosis congenita that has material basis in an autosomal recessive mutation of RTEL1 on chromosome 20q13.33. OMIM : 56 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) |
Diseases in the Dyskeratosis Congenita family:Diseases related to Dyskeratosis Congenita, Autosomal Recessive 5 via text searches within MalaCards or GeneCards Suite gene sharing:
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Human phenotypes related to Dyskeratosis Congenita, Autosomal Recessive 5:31 (show all 12)
Symptoms via clinical synopsis from OMIM:56Clinical features from OMIM:615190 |
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MalaCards organs/tissues related to Dyskeratosis Congenita, Autosomal Recessive 5:40
Bone,
Bone Marrow,
Skin,
Liver,
B Cells,
Eye
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Articles related to Dyskeratosis Congenita, Autosomal Recessive 5:
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Genes related to Dyskeratosis Congenita, Autosomal Recessive 5 (1 elite genes): - Elite gene
- Cancer Census gene in COSMIC
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ClinVar genetic disease variations for Dyskeratosis Congenita, Autosomal Recessive 5:6 (show top 50) (show all 229)
UniProtKB/Swiss-Prot genetic disease variations for Dyskeratosis Congenita, Autosomal Recessive 5:73 (show all 11)
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Search
GEO
for disease gene expression data for Dyskeratosis Congenita, Autosomal Recessive 5.
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Cellular components related to Dyskeratosis Congenita, Autosomal Recessive 5 according to GeneCards Suite gene sharing:
Biological processes related to Dyskeratosis Congenita, Autosomal Recessive 5 according to GeneCards Suite gene sharing:
Molecular functions related to Dyskeratosis Congenita, Autosomal Recessive 5 according to GeneCards Suite gene sharing:
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