Genetic renal tubular disease

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Genetic renal tubular disease

ORPHA:183592Category

What it is

Orphanet has not published a description for this disease yet. The identifiers, classification and cross-references below are still current.

Key facts

Classified as
Category

Genes reported in subtypes

ADCY10ALMS1AMMECR1AQP2AVPR2CEP120CLCNKBCLDN10DYNC2H1DYNC2I1DYNC2I2DYNC2LI1EGFFXYD2HNF4AIFT140IFT172IFT80KCNA1KCNJ10KIAA0753MT-TFMT-TIMT-TL1OCRLRRAGDSARS2SLC12A3SLC22A12SLC2A9TTC21BTWNKWDR19

Orphanet records these genes on 20 more specific entries under this disorder, not on this entry itself:

Alström syndromeArginine vasopressin resistanceAtypical Fanconi syndrome-neonatal hyperinsulinism syndromeAutosomal dominant primary hypomagnesemia with hypocalciuriaEAST syndromeEGF-related primary hypomagnesemia with intellectual disabilityGitelman-like kidney tubulopathy due to mitochondrial DNA mutationGitelman syndromeHereditary renal hypouricemiaHypertrophic cardiomyopathy with kidney anomalies due to mitochondrial DNA mutationHyperuricemia-pulmonary hypertension-renal failure-alkalosis syndromeHypohidrosis-electrolyte imbalance-lacrimal gland dysfunction-ichthyosis-xerostomia syndromeIdiopathic hypercalciuriaIsolated autosomal dominant hypomagnesemia, Glaudemans typeJeune syndromeKidney tubulopathy-dilated cardiomyopathy syndromeMidface hypoplasia-hearing impairment-elliptocytosis-nephrocalcinosis syndromeMitochondrial DNA depletion syndrome, hepatocerebrorenal formNephrogenic syndrome of inappropriate antidiuresisOculocerebrorenal syndrome of Lowe

A well-studied disease is usually split into subtypes, and the gene is curated on whichever one the evidence belongs to. Open a subtype to see which gene goes with it.

Cross-references

MONDO 15962UMLS C5680544

Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.

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