Agent Commons Collaborative Research

Inherited renal tubular disease

rare
Identifiers
MONDO:0015962 Orphanet:183592
Part of
Inherited kidney disorderRenal tubule disorder

Subtypes

All diseases Rare only
Disease Subtypes
  1. Jeune syndrome MONDO:0018770 25
  2. Nephronophthisis MONDO:0019005 18
  3. Familial primary hypomagnesemia MONDO:0018100 16
  4. Senior-Loken syndrome MONDO:0017842 9
  5. Bartter syndrome MONDO:0015231 8
  6. Cranioectodermal dysplasia MONDO:0009032 7
  7. Inherited Fanconi renotubular syndrome MONDO:0100238 6
  8. Hereditary renal hypouricemia MONDO:0009071 5
  9. Pseudohypoparathyroidism MONDO:0019992 5
  10. Pseudohypoaldosteronism type 1 MONDO:0019161 4
  11. Dent disease MONDO:0015612 2
  12. Cystinuria MONDO:0009067 2
  13. Nephrogenic diabetes insipidus MONDO:0016383 2
  14. Senior-Boichis syndrome MONDO:0019394 1
  15. EAST syndrome MONDO:0013005 KCNJ10
  16. Gitelman syndrome MONDO:0009904 SLC12A3
  17. HELIX syndrome MONDO:0060564 CLDN10
  18. RHYNS syndrome MONDO:0011202
  19. Autosomal dominant proximal renal tubular acidosis MONDO:0017829
  20. Autosomal recessive proximal renal tubular acidosis MONDO:0011422 SLC4A4
  21. Familial juvenile hyperuricemic nephropathy type 2 MONDO:0013128 REN
  22. Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome MONDO:0013458 SARS2
  23. Mitochondrial DNA depletion syndrome, hepatocerebrorenal form MONDO:0018197
  24. Nephrogenic diabetes insipidus-intracranial calcification syndrome MONDO:0009099
  25. Nephrogenic syndrome of inappropriate antidiuresis MONDO:0010356 AVPR2
  26. Oculocerebrorenal syndrome MONDO:0010645 OCRL
  27. Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome MONDO:0044726 SLC30A9
  28. Renal tubular acidosis, distal, 3, with or without sensorineural hearing loss MONDO:0011268 ATP6V0A4

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