Zimmermann-Laband syndrome
ORPHA:3473Malformation syndromeAutosomal recessiveNeonatal
Ассоциированные гены3
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| KCNN3 | potassium calcium-activated channel subfamily N member 3 | Disease-causing germline mutation(s) (gain of function) in | gene with protein product | 602983 |
| ATP6V1B2 | ATPase H+ transporting V1 subunit B2 | Disease-causing germline mutation(s) in | gene with protein product | 606939 |
| KCNH1 | potassium voltage-gated channel subfamily H member 1 | Disease-causing germline mutation(s) in | gene with protein product | 603305 |
Фенотипы (HPO)43
Облигатный (100%)1
HP:0000169Gingival fibromatosis
Частый (30–79%)11
HP:0000154Wide mouth
HP:0000414Bulbous nose
HP:0000445Wide nose
HP:0001249Intellectual disability
HP:0001382Joint hypermobility
HP:0001804Hypoplastic fingernail
HP:0001817Absent fingernail
HP:0002265Large fleshy ears
HP:0004554Generalized hypertrichosis
HP:0009102Anterior open-bite malocclusion
HP:0009894Thickened ears
Периодический (5–29%)26
HP:0000158Macroglossia
HP:0000175Cleft palate
HP:0000193Bifid uvula
HP:0000218High palate
HP:0000316Hypertelorism
HP:0000347Micrognathia
HP:0000470Short neck
HP:0000494Downslanted palpebral fissures
HP:0000506Telecanthus
HP:0000518Cataract
HP:0000527Long eyelashes
HP:0000574Thick eyebrow
HP:0000668Hypodontia
HP:0000811Abnormal external genitalia
HP:0000977Soft skin
HP:0001250Seizure
HP:0001510Growth delay
HP:0001744Splenomegaly
HP:0001761Pes cavus
HP:0001763Pes planus
HP:0001822Hallux valgus
HP:0002219Facial hypertrichosis
HP:0002240Hepatomegaly
HP:0008947Floppy infant
HP:0011069Supernumerary tooth
HP:0030680Abnormal cardiovascular system morphology
Очень редкий (1–4%)5
HP:0000407Sensorineural hearing impairment
HP:0001869Deep plantar creases
HP:0006191Deep palmar crease
HP:0006391Overtubulated long bones
HP:0007440Generalized hyperpigmentation
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 52 | 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)