Galloway-Mowat syndrome
ORPHA:2065Malformation syndromeAutosomal recessive, X-linked recessiveChildhood, Infancy, Neonatal
Ассоциированные гены10
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| OSGEP | O-sialoglycoprotein endopeptidase | Disease-causing germline mutation(s) in | gene with protein product | 610107 |
| TP53RK | TP53 regulating kinase | Disease-causing germline mutation(s) in | gene with protein product | 608679 |
| WDR73 | WD repeat domain 73 | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 616144 |
| NUP107 | nucleoporin 107 | Disease-causing germline mutation(s) in | gene with protein product | 607617 |
| TPRKB | TP53RK binding protein | Disease-causing germline mutation(s) in | gene with protein product | 608680 |
| LAGE3 | L antigen family member 3 | Disease-causing germline mutation(s) in | gene with protein product | 300060 |
| WDR4 | WDR4 tRNA N7-guanosine methyltransferase non-catalytic subunit | Disease-causing germline mutation(s) in | gene with protein product | 605924 |
| GON7 | GON7 subunit of KEOPS complex | Disease-causing germline mutation(s) in | gene with protein product | 617436 |
| NUP133 | nucleoporin 133 | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 607613 |
| YRDC | yrdC N6-threonylcarbamoyltransferase domain containing | Disease-causing germline mutation(s) in | gene with protein product | 612276 |
Фенотипы (HPO)28
Очень частый (80–99%)7
HP:0000093Proteinuria
HP:0000100Nephrotic syndrome
HP:0000112Nephropathy
HP:0000252Microcephaly
HP:0001263Global developmental delay
HP:0100543Cognitive impairment
HP:0100720Hypoplasia of the ear cartilage
Частый (30–79%)9
HP:0000400Macrotia
HP:0001250Seizure
HP:0001302Pachygyria
HP:0001511Intrauterine growth retardation
HP:0001622Premature birth
HP:0002036Hiatus hernia
HP:0002269Abnormality of neuronal migration
HP:0002353EEG abnormality
HP:0004322Short stature
Периодический (5–29%)12
HP:0000164Abnormality of the dentition
HP:0000316Hypertelorism
HP:0000347Micrognathia
HP:0000601Hypotelorism
HP:0001181Adducted thumb
HP:0001252Hypotonia
HP:0001276Hypertonia
HP:0002410Aqueductal stenosis
HP:0004374Hemiplegia/hemiparesis
HP:0005108Abnormal intervertebral disk morphology
HP:0010978Abnormality of immune system physiology
HP:0100490Camptodactyly of finger
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 159 | Worldwide | Case(s) |
| Point prevalence | 1-9 / 1 000 000 | 0.1 | Worldwide | Value and class |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)