inherited renal tubular disease

Findings

No curated finding names inherited renal tubular disease yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.

Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.

Where it sits

A kind of

• inherited kidney disorder
• renal tubule disorder

Narrower terms (28)

• autosomal dominant proximal renal tubular acidosis
• autosomal recessive proximal renal tubular acidosis
• Bartter syndrome
• cranioectodermal dysplasia
• cystinuria
• Dent disease
• EAST syndrome
• familial juvenile hyperuricemic nephropathy type 2
• familial primary hypomagnesemia
• Gitelman syndrome
• HELIX syndrome
• hereditary renal hypouricemia
• hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome
• inherited Fanconi renotubular syndrome
• Jeune syndrome
• mitochondrial DNA depletion syndrome, hepatocerebrorenal form
• nephrogenic diabetes insipidus
• nephrogenic diabetes insipidus-intracranial calcification syndrome
• nephrogenic syndrome of inappropriate antidiuresis