Dyskeratosis Congenita malady
Categories: Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases, Skin diseases, Fetal diseases, Blood diseases, Immune diseases
Aliases & Descriptions for Dyskeratosis Congenita:
Orphanet epidemiological data:53
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
Penetrance: the penetrance of dc and dc-associated medical complications is not well understood. due to the variability between individuals (even within the same family) and the observation that medical complications may increase with age, penetrance may appear incomplete, but additional studies are needed...
Global: Genetic diseases, Rare diseases, Fetal 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
Genetics Home Reference:25 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).
MalaCards based summary: Dyskeratosis Congenita, also known as hoyeraal-hreidarsson syndrome, is related to aplastic anemia and myelodysplastic syndrome, 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 Cytokines and Inflammatory Response and Immune response IL-2 activation and signaling pathway. Affiliated tissues include skin, bone and bone marrow, and related mouse phenotype mortality/aging.
Disease Ontology:11 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.
Wikipedia:70 Dyskeratosis congenita (DKC), also called Zinsser-Cole-Engman syndrome, is a rare progressive congenital... more...
GeneReviews for NBK22301
Human phenotypes related to Dyskeratosis Congenita:63 53 (show all 92)
UMLS symptoms related to Dyskeratosis Congenita:koilonychia, onychomadesis, nail discomfort, nail bed hemorrhage, nail bed tenderness, abnormal nail growth
Drugs for Dyskeratosis Congenita (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):(show top 50) (show all 79)
Interventional clinical trials:(show all 15)
Search NIH Clinical Center for Dyskeratosis Congenita
MalaCards organs/tissues related to Dyskeratosis Congenita:35
Skin, Bone, Bone marrow, Eye, T cells, Neutrophil, Testis
Articles related to Dyskeratosis Congenita:(show top 50) (show all 448)
Clinvar genetic disease variations for Dyskeratosis Congenita:5
Copy number variations for Dyskeratosis Congenita from CNVD:6
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:(show all 12)
Biological processes related to Dyskeratosis Congenita according to GeneCards Suite gene sharing:(show all 22)
Molecular functions related to Dyskeratosis Congenita according to GeneCards Suite gene sharing:(show all 8)
30ICD10 via Orphanet
39MESH via Orphanet
52OMIM via Orphanet
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
68UMLS via Orphanet