Dyskeratosis Congenita malady
Categories: Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases, Skin diseases, Fetal diseases, Blood diseases, Cancer diseases, Immune diseases
Aliases & Descriptions for Dyskeratosis Congenita:
Orphanet epidemiological data:51
Inheritance: Autosomal dominant,Autosomal recessive,X-linked recessive; Prevalence: 1-9/1000000 (Europe); Age of onset: Adolescent,Adult,Childhood,Infancy,Neonatal; Age of death: adolescent,adult,early childhood,infantile,late childhood,young Adult
Inheritance: Autosomal dominant,Autosomal recessive,X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: adolescent,late childhood
Global: Genetic diseases, Rare diseases, Fetal diseases, Cancer diseases
Anatomical: Neuronal diseases, Eye diseases, Skin diseases, Blood diseases, Immune diseases
Rare neurological diseases
Rare eye diseases
Rare skin diseases
Developmental anomalies during embryogenesis
Rare haematological diseases
Rare immunological diseases
NIH Rare Diseases:45 Dyskeratosis congenita is a disorder that may affect many parts of the body. three features are especially characteristic of this disorder: (1) fingernails and toenails that grow poorly or are abnormally shaped; (2) changes in skin coloring (pigmentation), especially on the neck and chest, in a pattern often described as "lacy"; and (3) white patches inside the mouth (oral leukoplakia). people with dyskeratosis congenita also have an increased risk of developing several life-threatening conditions, including bone marrow failure, aplastic anemia, myelodysplastic syndrome, leukemia, and other cancers. the severity of dyskeratosis congenita varies widely among affected individuals. in about half of people, this condition is caused by mutations the dkc1, terc, tert, and tinf2 genes. dyskeratosis congenita can have different inheritance patterns. last updated: 1/20/2012
MalaCards based summary: Dyskeratosis Congenita, also known as hoyeraal-hreidarsson syndrome, is related to dyskeratosis congenita autosomal recessive and epidermolysis bullosa, and has symptoms including hypermelanotic macule, abnormality of the fingernails and thrombocytopenia. An important gene associated with Dyskeratosis Congenita is DKC1 (Dyskerin Pseudouridine Synthase 1), and among its related pathways are Telomere Extension by Telomerase and Ribosome biogenesis in eukaryotes. Affiliated tissues include skin, bone and bone marrow.
Disease Ontology:10 A skin disease characterized by cutaneous pigmentation, premature graying, dystrophy of the nails, leukoplakia of the oral mucosa, continuous lacrimation due to atresia of the lacrimal ducts, often thrombocytopenia, anemia, testicular atrophy in the male carriers and predisposition to cancer.
Genetics Home Reference:23 Dyskeratosis congenita is a disorder that can affect many parts of the body. There are three features that are characteristic of this disorder: fingernails and toenails that grow poorly or are abnormally shaped (nail dystrophy); changes in skin coloring (pigmentation), especially on the neck and chest, in a pattern often described as "lacy"; and white patches inside the mouth (oral leukoplakia).
Wikipedia:68 Dyskeratosis congenita (DKC), also called Zinsser-Cole-Engman syndrome, is a rare progressive congenital... more...
GeneReviews summary for NBK22301
Symptoms:51 (show all 82)
HPO human phenotypes related to Dyskeratosis Congenita:(show all 70)
Drugs for Dyskeratosis Congenita (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):(show top 50) (show all 76)
Interventional clinical trials:(show all 14)
Search NIH Clinical Center for Dyskeratosis Congenita
MalaCards organs/tissues related to Dyskeratosis Congenita:33
Skin, Bone, Bone marrow, T cells, Liver, Pancreas, Eye
Articles related to Dyskeratosis Congenita:(show top 50) (show all 425)
Clinvar genetic disease variations for Dyskeratosis Congenita:5
Cosmic variations for Dyskeratosis Congenita:7
Search GEO for disease gene expression data for Dyskeratosis Congenita.
Pathways related to Dyskeratosis Congenita according to GeneCards Suite gene sharing:
Cellular components related to Dyskeratosis Congenita according to GeneCards Suite gene sharing:
Biological processes related to Dyskeratosis Congenita according to GeneCards Suite gene sharing:(show all 13)
Molecular functions related to Dyskeratosis Congenita according to GeneCards Suite gene sharing:
28ICD10 via Orphanet
37MESH via Orphanet
50OMIM via Orphanet
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
66UMLS via Orphanet