Hoyeraal-Hreidarsson syndrome
ORPHA:3322DiseaseAutosomal dominant, Autosomal recessive, X-linked recessiveInfancy, Neonatal
Ассоциированные гены6
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| 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 |
| TINF2 | TERF1 interacting nuclear factor 2 | Disease-causing germline mutation(s) in | gene with protein product | 604319 |
| RTEL1 | regulator of telomere elongation helicase 1 | Disease-causing germline mutation(s) in | gene with protein product | 608833 |
| ACD | ACD shelterin complex subunit and telomerase recruitment factor | Disease-causing germline mutation(s) in | gene with protein product | 609377 |
| PARN | poly(A)-specific ribonuclease | Disease-causing germline mutation(s) in | gene with protein product | 604212 |
Фенотипы (HPO)28
Очень частый (80–99%)10
HP:0000252Microcephaly
HP:0001249Intellectual disability
HP:0001263Global developmental delay
HP:0001321Cerebellar hypoplasia
HP:0001508Failure to thrive
HP:0001511Intrauterine growth retardation
HP:0001873Thrombocytopenia
HP:0002721Immunodeficiency
HP:0004322Short stature
HP:0004334Dermal atrophy
Частый (30–79%)12
HP:0001276Hypertonia
HP:0001903Anemia
HP:0001928Abnormality of coagulation
HP:0002119Ventriculomegaly
HP:0002120Cerebral cortical atrophy
HP:0002209Sparse scalp hair
HP:0002216Premature graying of hair
HP:0002745Oral leukoplakia
HP:0007392Excessive wrinkled skin
HP:0007440Generalized hyperpigmentation
HP:0008404Nail dystrophy
HP:0011358Generalized hypopigmentation of hair
Периодический (5–29%)6
HP:0001251Ataxia
HP:0001265Hyporeflexia
HP:0001881Abnormal leukocyte morphology
HP:0002514Cerebral calcification
HP:0002664Neoplasm
HP:0005528Bone marrow hypocellularity
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only |
| Cases/families | — | 33 | Worldwide | Case(s) |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)