Neonatal adrenoleukodystrophy
ORPHA:44DiseaseAutosomal recessiveChildhood, Infancy, Neonatal
Ассоциированные гены13
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| PEX2 | peroxisomal biogenesis factor 2 | Disease-causing germline mutation(s) in | gene with protein product | 170993 |
| PEX1 | peroxisomal biogenesis factor 1 | Disease-causing germline mutation(s) in | gene with protein product | 602136 |
| PEX10 | peroxisomal biogenesis factor 10 | Disease-causing germline mutation(s) in | gene with protein product | 602859 |
| PEX12 | peroxisomal biogenesis factor 12 | Disease-causing germline mutation(s) in | gene with protein product | 601758 |
| PEX13 | peroxisomal biogenesis factor 13 | Disease-causing germline mutation(s) in | gene with protein product | 601789 |
| PEX14 | peroxisomal biogenesis factor 14 | Disease-causing germline mutation(s) in | gene with protein product | 601791 |
| PEX16 | peroxisomal biogenesis factor 16 | Disease-causing germline mutation(s) in | gene with protein product | 603360 |
| PEX19 | peroxisomal biogenesis factor 19 | Disease-causing germline mutation(s) in | gene with protein product | 600279 |
| PEX26 | peroxisomal biogenesis factor 26 | Disease-causing germline mutation(s) in | gene with protein product | 608666 |
| PEX3 | peroxisomal biogenesis factor 3 | Disease-causing germline mutation(s) in | gene with protein product | 603164 |
| PEX5 | peroxisomal biogenesis factor 5 | Disease-causing germline mutation(s) in | gene with protein product | 600414 |
| PEX6 | peroxisomal biogenesis factor 6 | Disease-causing germline mutation(s) in | gene with protein product | 601498 |
| PEX11B | peroxisomal biogenesis factor 11 beta | Disease-causing germline mutation(s) in | gene with protein product | 603867 |
Фенотипы (HPO)29
Очень частый (80–99%)21
HP:0000407Sensorineural hearing impairment
HP:0000431Wide nasal bridge
HP:0000174Abnormal palate morphology
HP:0000268Dolichocephaly
HP:0000348High forehead
HP:0000463Anteverted nares
HP:0000486Strabismus
HP:0000639Nystagmus
HP:0000648Optic atrophy
HP:0001250Seizure
HP:0001252Hypotonia
HP:0001347Hyperreflexia
HP:0001392Abnormality of the liver
HP:0001939Abnormality of metabolism/homeostasis
HP:0002353EEG abnormality
HP:0002376Developmental regression
HP:0004322Short stature
HP:0008207Primary adrenal insufficiency
HP:0011344Severe global developmental delay
HP:0100022Abnormality of movement
HP:0000358Posteriorly rotated ears
Частый (30–79%)8
HP:0000256Macrocephaly
HP:0000260Wide anterior fontanel
HP:0000505Visual impairment
HP:0000508Ptosis
HP:0000518Cataract
HP:0002269Abnormality of neuronal migration
HP:0007598Bilateral single transverse palmar creases
HP:0007703Abnormality of retinal pigmentation
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Prevalence at birth | 1-9 / 100 000 | 1.2 | Italy | Value and class |
| Point prevalence | Unknown | — | Worldwide | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)