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Primary Fanconi renotubular syndrome

ORPHA:3337DiseaseAutosomal dominant, Autosomal recessiveChildhood, Infancy

Ассоциированные гены (4)

EHHADH
enoyl-CoA hydratase and 3-hydroxyacyl CoA dehydrogenase
Disease-causing germline mutation(s) in
OMIM: 607037
GATM
glycine amidinotransferase
Disease-causing germline mutation(s) in
OMIM: 602360
SLC34A1
solute carrier family 34 member 1
Disease-causing germline mutation(s) (loss of function) in
OMIM: 182309
NDUFAF6
NADH:ubiquinone oxidoreductase complex assembly factor 6
Disease-causing germline mutation(s) in
OMIM: 612392

Фенотипы (29)

Очень частый (80–99%) — 11
HP:0000117Renal phosphate wasting
HP:0001510Growth delay
HP:0002049Proximal renal tubular acidosis
HP:0002909Generalized aminoaciduria
HP:0003076Glycosuria
HP:0003126Low-molecular-weight proteinuria
HP:0003149Hyperuricosuria
HP:0003646Bicarbonaturia
HP:0004910Bicarbonate-wasting renal tubular acidosis
HP:0004918Hyperchloremic metabolic acidosis
HP:0032943Abnormal urine pH
Частый (30–79%) — 13
HP:0001324Muscle weakness
HP:0001824Weight loss
HP:0002148Hypophosphatemia
HP:0002653Bone pain
HP:0002659Increased susceptibility to fractures
HP:0002749Osteomalacia
HP:0002900Hypokalemia
HP:0003081Increased urinary potassium
HP:0003234Decreased circulating carnitine concentration
HP:0003537Hypouricemia
HP:0004912Hypophosphatemic rickets
HP:0012606Renal sodium wasting
HP:0012622Chronic kidney disease
Периодический (5–29%) — 3
HP:0001944Dehydration
HP:0002150Hypercalciuria
HP:0003774Stage 5 chronic kidney disease
Очень редкий (1–4%) — 2
HP:0001943Hypoglycemia
HP:0002206Pulmonary fibrosis

Эпидемиология (1)

Point prevalence
Unknown
Worldwide

Лекарства и терапия

Источник: Open Targets Platform (в реальном времени)

Клинические исследования

Источник: ClinicalTrials.gov (в реальном времени)

Внешние ресурсы

OrphanetOMIMOpen TargetsClinicalTrials