Dyskeratosis congenita
ORPHA:1775DiseaseAutosomal dominant, Autosomal recessive, X-linked recessiveAdolescent, Adult, Childhood, Infancy, Neonatal
Ассоциированные гены13
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| NPM1 | nucleophosmin 1 | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 164040 |
| DKC1 | dyskerin pseudouridine synthase 1 | Disease-causing germline mutation(s) in | gene with protein product | 300126 |
| TERT | telomerase reverse transcriptase | Disease-causing germline mutation(s) in | gene with protein product | 187270 |
| TERC | telomerase RNA component | Disease-causing germline mutation(s) in | Non-coding RNA | 602322 |
| TINF2 | TERF1 interacting nuclear factor 2 | Disease-causing germline mutation(s) in | gene with protein product | 604319 |
| NOP10 | NOP10 ribonucleoprotein | Disease-causing germline mutation(s) in | gene with protein product | 606471 |
| NHP2 | NHP2 ribonucleoprotein | Disease-causing germline mutation(s) in | gene with protein product | 606470 |
| USB1 | U6 snRNA biogenesis phosphodiesterase 1 | Disease-causing germline mutation(s) in | gene with protein product | 613276 |
| WRAP53 | WD repeat containing antisense to TP53 | Disease-causing germline mutation(s) in | gene with protein product | 612661 |
| CTC1 | CST telomere replication complex component 1 | Disease-causing germline mutation(s) in | gene with protein product | 613129 |
| RTEL1 | regulator of telomere elongation helicase 1 | Disease-causing germline mutation(s) in | gene with protein product | 608833 |
| PARN | poly(A)-specific ribonuclease | Disease-causing germline mutation(s) in | gene with protein product | 604212 |
| TYMS | thymidylate synthetase | Disease-causing germline mutation(s) in | gene with protein product | 188350 |
Фенотипы (HPO)62
Очень частый (80–99%)9
HP:0001034Hypermelanotic macule
HP:0001231Abnormal fingernail morphology
HP:0001873Thrombocytopenia
HP:0001874Abnormality of neutrophils
HP:0001903Anemia
HP:0002745Oral leukoplakia
HP:0008066Abnormal blistering of the skin
HP:0008404Nail dystrophy
HP:0012733Macule
Частый (30–79%)29
HP:0000008Abnormal morphology of female internal genitalia
HP:0000164Abnormality of the dentition
HP:0000600Abnormality of the pharynx
HP:0000668Hypodontia
HP:0000670Carious teeth
HP:0000679Taurodontia
HP:0000704Periodontitis
HP:0000975Hyperhidrosis
HP:0001053Hypopigmented skin patches
HP:0001263Global developmental delay
HP:0001511Intrauterine growth retardation
HP:0001928Abnormality of coagulation
HP:0002024Malabsorption
HP:0002205Recurrent respiratory infections
HP:0002575Tracheoesophageal fistula
HP:0002664Neoplasm
HP:0002757Recurrent fractures
HP:0004322Short stature
HP:0005374Cellular immunodeficiency
HP:0005528Bone marrow hypocellularity
HP:0008065Aplasia/Hypoplasia of the skin
HP:0008070Sparse hair
HP:0008661Urethral stenosis
HP:0010450Esophageal stenosis
HP:0010624Aplastic/hypoplastic toenail
HP:0012732Anorectal anomaly
HP:0100585Telangiectasia of the skin
HP:0100670Rough bone trabeculation
HP:0200042Skin ulcer
Периодический (5–29%)24
HP:0000035Abnormal testis morphology
HP:0000327Hypoplasia of the maxilla
HP:0000365Hearing impairment
HP:0000498Blepharitis
HP:0000499Abnormal eyelash morphology
HP:0000518Cataract
HP:0000534Abnormal eyebrow morphology
HP:0000819Diabetes mellitus
HP:0000939Osteoporosis
HP:0000982Palmoplantar keratoderma
HP:0001394Cirrhosis
HP:0001399Hepatic failure
HP:0001596Alopecia
HP:0001744Splenomegaly
HP:0002216Premature graying of hair
HP:0002240Hepatomegaly
HP:0002514Cerebral calcification
HP:0002650Scoliosis
HP:0002665Lymphoma
HP:0002894Neoplasm of the pancreas
HP:0010885Avascular necrosis
HP:0011364White hair
HP:0100627Displacement of the urethral meatus
HP:0200037Skin vesicle
Эпидемиология1
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | 1-9 / 1 000 000 | 0.1 | Europe | Value and class |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)