Severe intellectual disability and progressive spastic paraplegia
ORPHA:280763DiseaseAutosomal recessiveInfancy, Neonatal
Ассоциированные гены4
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| AP4M1 | adaptor related protein complex 4 subunit mu 1 | Disease-causing germline mutation(s) in | gene with protein product | 602296 |
| AP4E1 | adaptor related protein complex 4 subunit epsilon 1 | Disease-causing germline mutation(s) in | gene with protein product | 607244 |
| AP4B1 | adaptor related protein complex 4 subunit beta 1 | Disease-causing germline mutation(s) in | gene with protein product | 607245 |
| AP4S1 | adaptor related protein complex 4 subunit sigma 1 | Disease-causing germline mutation(s) in | gene with protein product | 607243 |
Фенотипы (HPO)37
Очень частый (80–99%)4
HP:0000252Microcephaly
HP:0001252Hypotonia
HP:0007020Progressive spastic paraplegia
HP:0010864Intellectual disability, severe
Частый (30–79%)16
HP:0000280Coarse facial features
HP:0000297Facial hypotonia
HP:0000414Bulbous nose
HP:0001257Spasticity
HP:0001263Global developmental delay
HP:0001272Cerebellar atrophy
HP:0001288Gait disturbance
HP:0001332Dystonia
HP:0001347Hyperreflexia
HP:0002120Cerebral cortical atrophy
HP:0002307Drooling
HP:0002464Spastic dysarthria
HP:0002465Poor speech
HP:0002515Waddling gait
HP:0003487Babinski sign
HP:0004322Short stature
Периодический (5–29%)12
HP:0000154Wide mouth
HP:0000218High palate
HP:0000322Short philtrum
HP:0000341Narrow forehead
HP:0000733Abnormal repetitive mannerisms
HP:0001250Seizure
HP:0001763Pes planus
HP:0002079Hypoplasia of the corpus callosum
HP:0002518Abnormal periventricular white matter morphology
HP:0010803Everted upper lip vermilion
HP:0025502Overweight
HP:0100962Shyness
Очень редкий (1–4%)5
HP:0000486Strabismus
HP:0000646Amblyopia
HP:0002761Generalized joint laxity
HP:0002816Genu recurvatum
HP:0008807Acetabular dysplasia
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 15 | 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)