Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease
ORPHA:163746DiseaseAutosomal dominantInfancy, Neonatal
Ассоциированные гены1
Фенотипы (HPO)36
Очень частый (80–99%)16
HP:0000506Telecanthus
HP:0000639Nystagmus
HP:0001053Hypopigmented skin patches
HP:0001100Heterochromia iridis
HP:0001249Intellectual disability
HP:0001250Seizure
HP:0001251Ataxia
HP:0001252Hypotonia
HP:0001257Spasticity
HP:0001263Global developmental delay
HP:0002019Constipation
HP:0002027Abdominal pain
HP:0002251Aganglionic megacolon
HP:0002595Ileus
HP:0007256Abnormal pyramidal sign
HP:0009830Peripheral neuropathy
Частый (30–79%)13
HP:0000135Hypogonadism
HP:0000426Prominent nasal bridge
HP:0000430Underdeveloped nasal alae
HP:0000431Wide nasal bridge
HP:0000534Abnormal eyebrow morphology
HP:0000633Decreased lacrimation
HP:0000635Blue irides
HP:0000664Synophrys
HP:0002211White forelock
HP:0002216Premature graying of hair
HP:0004388Microcolon
HP:0005599Hypopigmentation of hair
HP:0006978Dysmyelinating leukodystrophy
Периодический (5–29%)7
HP:0000966Hypohidrosis
HP:0001337Tremor
HP:0001744Splenomegaly
HP:0002240Hepatomegaly
HP:0002804Arthrogryposis multiplex congenita
HP:0011675Arrhythmia
HP:0012332Abnormal autonomic nervous system physiology
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 40 | 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)