Alopecia-intellectual disability syndrome
ORPHA:2850DiseaseAutosomal recessiveNeonatal
Ассоциированные гены3
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| ITGB6 | integrin subunit beta 6 | Disease-causing germline mutation(s) in | gene with protein product | 147558 |
| LSS | lanosterol synthase | Disease-causing germline mutation(s) in | gene with protein product | 600909 |
| AHSG | alpha 2-HS glycoprotein | Disease-causing germline mutation(s) in | gene with protein product | 138680 |
Фенотипы (HPO)26
Очень частый (80–99%)9
HP:0000252Microcephaly
HP:0000365Hearing impairment
HP:0001249Intellectual disability
HP:0001252Hypotonia
HP:0001596Alopecia
HP:0002209Sparse scalp hair
HP:0002231Sparse body hair
HP:0002750Delayed skeletal maturation
HP:0100840Aplasia/Hypoplasia of the eyebrow
Частый (30–79%)12
HP:0000613Photophobia
HP:0000815Hypergonadotropic hypogonadism
HP:0001156Brachydactyly
HP:0001171Split hand
HP:0001250Seizure
HP:0001510Growth delay
HP:0002353EEG abnormality
HP:0004322Short stature
HP:0008064Ichthyosis
HP:0008070Sparse hair
HP:0011842Abnormality of skeletal morphology
HP:0200012Short corpus callosum
Периодический (5–29%)5
HP:0000400Macrotia
HP:0000962Hyperkeratosis
HP:0001371Flexion contracture
HP:0002650Scoliosis
HP:0005105Abnormal nasal morphology
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only |
| Cases/families | — | 15 | Worldwide | Family(ies) |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)