Zellweger syndrome
ORPHA:912DiseaseAutosomal recessiveNeonatal
Ассоциированные гены13
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| PEX11B | peroxisomal biogenesis factor 11 beta | Disease-causing germline mutation(s) in | gene with protein product | 603867 |
| 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 |
Фенотипы (HPO)55
Очень частый (80–99%)25
HP:0000377Abnormal pinna morphology
HP:0001522Death in infancy
HP:0002093Respiratory insufficiency
HP:0002240Hepatomegaly
HP:0002353EEG abnormality
HP:0002652Skeletal dysplasia
HP:0004322Short stature
HP:0005280Depressed nasal bridge
HP:0006829Severe muscular hypotonia
HP:0007957Corneal opacity
HP:0008167Very long chain fatty acid accumulation
HP:0008872Feeding difficulties in infancy
HP:0010655Epiphyseal stippling
HP:0012368Flat face
HP:0012736Profound global developmental delay
HP:0100543Cognitive impairment
HP:0000260Wide anterior fontanel
HP:0000286Epicanthus
HP:0000348High forehead
HP:0000431Wide nasal bridge
HP:0000582Upslanted palpebral fissure
HP:0000952Jaundice
HP:0001315Reduced tendon reflexes
HP:0001399Hepatic failure
HP:0001508Failure to thrive
Частый (30–79%)23
HP:0000003Multicystic kidney dysplasia
HP:0000028Cryptorchidism
HP:0000047Hypospadias
HP:0000126Hydronephrosis
HP:0000218High palate
HP:0000252Microcephaly
HP:0000256Macrocephaly
HP:0000347Micrognathia
HP:0000407Sensorineural hearing impairment
HP:0000505Visual impairment
HP:0000518Cataract
HP:0000532Chorioretinal abnormality
HP:0000627Posterior embryotoxon
HP:0000639Nystagmus
HP:0000648Optic atrophy
HP:0001250Seizure
HP:0001622Premature birth
HP:0002021Pyloric stenosis
HP:0002024Malabsorption
HP:0002126Polymicrogyria
HP:0005469Flat occiput
HP:0008665Clitoral hypertrophy
HP:0009891Underdeveloped supraorbital ridges
Периодический (5–29%)7
HP:0000157Abnormality of the tongue
HP:0000474Thickened nuchal skin fold
HP:0000501Glaucoma
HP:0001088Brushfield spots
HP:0001629Ventricular septal defect
HP:0001928Abnormality of coagulation
HP:0008207Primary adrenal insufficiency
Эпидемиология4
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only |
| Point prevalence | 1-9 / 100 000 | 8.2 | Specific population | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 4.6 | Israel | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 8.2 | Specific population | Value and class |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)