Hereditary steroid-resistant nephrotic syndrome
ORPHA:656DiseaseAutosomal dominant, Autosomal recessiveAdolescent, Adult, Antenatal, Childhood, Infancy, Neonatal
Ассоциированные гены34
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| MAGI2 | membrane associated guanylate kinase, WW and PDZ domain containing 2 | Disease-causing germline mutation(s) in | gene with protein product | 606382 |
| AVIL | advillin | Disease-causing germline mutation(s) in | gene with protein product | 613397 |
| DAAM2 | dishevelled associated activator of morphogenesis 2 | Disease-causing germline mutation(s) in | gene with protein product | 606627 |
| KANK2 | KN motif and ankyrin repeat domains 2 | Disease-causing germline mutation(s) in | gene with protein product | 614610 |
| LAMA5 | laminin subunit alpha 5 | Disease-causing germline mutation(s) in | gene with protein product | 601033 |
| ACTN4 | actinin alpha 4 | Disease-causing germline mutation(s) in | gene with protein product | 604638 |
| TRPC6 | transient receptor potential cation channel subfamily C member 6 | Disease-causing germline mutation(s) (gain of function) in | gene with protein product | 603652 |
| WT1 | WT1 transcription factor | Disease-causing germline mutation(s) in | gene with protein product | 607102 |
| COL4A3 | collagen type IV alpha 3 chain | Modifying germline mutation in | gene with protein product | 120070 |
| NPHS1 | NPHS1 adhesion molecule, nephrin | Disease-causing germline mutation(s) in | gene with protein product | 602716 |
| NPHS2 | NPHS2 stomatin family member, podocin | Disease-causing germline mutation(s) in | gene with protein product | 604766 |
| PAX2 | paired box 2 | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 167409 |
| PLCE1 | phospholipase C epsilon 1 | Disease-causing germline mutation(s) in | gene with protein product | 608414 |
| INF2 | inverted formin, FH2 and WH2 domain containing | Disease-causing germline mutation(s) in | gene with protein product | 610982 |
| CD2AP | CD2 associated protein | Disease-causing germline mutation(s) in | gene with protein product | 604241 |
| MYO1E | myosin IE | Disease-causing germline mutation(s) in | gene with protein product | 601479 |
| PTPRO | protein tyrosine phosphatase receptor type O | Disease-causing germline mutation(s) in | gene with protein product | 600579 |
| ARHGAP24 | Rho GTPase activating protein 24 | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 610586 |
| COQ8B | coenzyme Q8B | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 615567 |
| ANLN | anillin, actin binding protein | Disease-causing germline mutation(s) in | gene with protein product | 616027 |
| CRB2 | crumbs cell polarity complex component 2 | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 609720 |
| NUP107 | nucleoporin 107 | Disease-causing germline mutation(s) in | gene with protein product | 607617 |
| NUP93 | nucleoporin 93 | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 614351 |
| NUP205 | nucleoporin 205 | Disease-causing germline mutation(s) in | gene with protein product | 614352 |
| GAPVD1 | GTPase activating protein and VPS9 domains 1 | Disease-causing germline mutation(s) in | gene with protein product | 611714 |
| NUP85 | nucleoporin 85 | Disease-causing germline mutation(s) in | gene with protein product | 170285 |
| NUP37 | nucleoporin 37 | Disease-causing germline mutation(s) in | gene with protein product | 609264 |
| NUP160 | nucleoporin 160 | Disease-causing germline mutation(s) in | gene with protein product | 607614 |
| NUP133 | nucleoporin 133 | Disease-causing germline mutation(s) in | gene with protein product | 607613 |
| TBC1D8B | TBC1 domain family member 8B | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 301027 |
| ANKFY1 | ankyrin repeat and FYVE domain containing 1 | Disease-causing germline mutation(s) in | gene with protein product | 607927 |
| EMP2 | epithelial membrane protein 2 | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 602334 |
| ARHGDIA | Rho GDP dissociation inhibitor alpha | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 601925 |
| APOL1 | apolipoprotein L1 | Major susceptibility factor in | gene with protein product | 603743 |
Фенотипы (HPO)17
Облигатный (100%)1
HP:0000093Proteinuria
Очень частый (80–99%)1
HP:0000969Edema
Частый (30–79%)4
HP:0000097Focal segmental glomerulosclerosis
HP:0003774Stage 5 chronic kidney disease
HP:0012622Chronic kidney disease
HP:0100539Periorbital edema
Периодический (5–29%)9
HP:0000737Irritability
HP:0001945Fever
HP:0001967Diffuse mesangial sclerosis
HP:0002027Abdominal pain
HP:0002315Headache
HP:0003073Hypoalbuminemia
HP:0011947Respiratory tract infection
HP:0012579Minimal change glomerulonephritis
HP:0031504Foamy urine
Очень редкий (1–4%)2
HP:0000707Abnormality of the nervous system
HP:0002586Peritonitis
Эпидемиология1
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)