Hennekam syndrome
ORPHA:2136Malformation syndromeAutosomal recessiveChildhood
Ассоциированные гены3
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| CCBE1 | collagen and calcium binding EGF domains 1 | Disease-causing germline mutation(s) in | gene with protein product | 612753 |
| FAT4 | FAT atypical cadherin 4 | Disease-causing germline mutation(s) in | gene with protein product | 612411 |
| ADAMTS3 | ADAM metallopeptidase with thrombospondin type 1 motif 3 | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 605011 |
Фенотипы (HPO)51
Очень частый (80–99%)18
HP:0000316Hypertelorism
HP:0000369Low-set ears
HP:0000431Wide nasal bridge
HP:0000684Delayed eruption of teeth
HP:0001004Lymphedema
HP:0001249Intellectual disability
HP:0001530Mild postnatal growth retardation
HP:0001888Lymphopenia
HP:0001999Abnormal facial shape
HP:0002024Malabsorption
HP:0004313Decreased circulating antibody level
HP:0005280Depressed nasal bridge
HP:0006482Abnormal dental morphology
HP:0009804Tooth agenesis
HP:0011069Supernumerary tooth
HP:0012368Flat face
HP:0100764Lymphangioma
HP:0000377Abnormal pinna morphology
Частый (30–79%)12
HP:0000212Gingival overgrowth
HP:0000286Epicanthus
HP:0000337Broad forehead
HP:0000501Glaucoma
HP:0000774Narrow chest
HP:0001055Erysipelas
HP:0001250Seizure
HP:0001541Ascites
HP:0001744Splenomegaly
HP:0002205Recurrent respiratory infections
HP:0002716Lymphadenopathy
HP:0011830Abnormal oral mucosa morphology
Периодический (5–29%)21
HP:0000085Horseshoe kidney
HP:0000086Ectopic kidney
HP:0000160Narrow mouth
HP:0000278Retrognathia
HP:0000322Short philtrum
HP:0000405Conductive hearing impairment
HP:0001302Pachygyria
HP:0001363Craniosynostosis
HP:0001698Pericardial effusion
HP:0001760Abnormal foot morphology
HP:0001789Hydrops fetalis
HP:0002021Pyloric stenosis
HP:0002093Respiratory insufficiency
HP:0002215Sparse axillary hair
HP:0002901Hypocalcemia
HP:0006101Finger syndactyly
HP:0006521Pulmonary lymphangiectasia
HP:0010310Chylothorax
HP:0100026Arteriovenous malformation
HP:0100490Camptodactyly of finger
HP:0100835Benign neoplasm of the central nervous system
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 50 | Worldwide | Case(s) |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)