Triple A syndrome
ORPHA:869DiseaseAutosomal recessiveAll ages
Ассоциированные гены3
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| TRAPPC11 | trafficking protein particle complex subunit 11 | Disease-causing germline mutation(s) in | gene with protein product | 614138 |
| AAAS | aladin WD repeat nucleoporin | Disease-causing germline mutation(s) in | gene with protein product | 605378 |
| GMPPA | GDP-mannose pyrophosphorylase A | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 615495 |
Фенотипы (HPO)35
Очень частый (80–99%)4
HP:0000522Alacrima
HP:0000846Adrenal insufficiency
HP:0002571Achalasia
HP:0007440Generalized hyperpigmentation
Частый (30–79%)14
HP:0000982Palmoplantar keratoderma
HP:0001531Failure to thrive in infancy
HP:0001611Hypernasal speech
HP:0001824Weight loss
HP:0001943Hypoglycemia
HP:0002013Vomiting
HP:0002173Hypoglycemic seizures
HP:0002615Hypotension
HP:0003154Increased circulating ACTH level
HP:0004322Short stature
HP:0008163Decreased circulating cortisol level
HP:0008872Feeding difficulties in infancy
HP:0012735Cough
HP:0031078Impaired cortisol response to corticotropin releasing hormone stimulation test
Периодический (5–29%)16
HP:0000252Microcephaly
HP:0000407Sensorineural hearing impairment
HP:0000505Visual impairment
HP:0000648Optic atrophy
HP:0001097Keratoconjunctivitis sicca
HP:0001249Intellectual disability
HP:0001251Ataxia
HP:0001252Hypotonia
HP:0001347Hyperreflexia
HP:0001761Pes cavus
HP:0002093Respiratory insufficiency
HP:0002376Developmental regression
HP:0007002Motor axonal neuropathy
HP:0007556Plantar hyperkeratosis
HP:0010486Abnormality of the hypothenar eminence
HP:0012804Corneal ulceration
Очень редкий (1–4%)1
HP:0004319Decreased circulating aldosterone level
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 100 | 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)