ORPHA:93603
Rare renal tubular disease
- Type
- Category
- Group
- Group of disorders
- Status
- active
This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Rare renal tubular disease | |
| fr | Néphropathie tubulaire rare | |
| de | Seltene renal-tubuläre Funktionsstörung | |
| es | Enfermedad renal tubular rara | |
| it | Malattia dei tubuli renali rara | |
| nl | Zeldzame renale tubulaire ziekte | |
| pt | Doença tubular renal rara | |
| pl | Rzadka choroba kanalików nerkowych | |
| cs | Vzácná renální tubulární onemocnění | |
| uk | Рідкісне захворювання ниркових канальців | |
| zh | 罕见肾小管疾病 | |
| tr | Nadir böbrek tübüler hastalığı |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| UMLS | C5681624 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:93626Rare renal disease
rare renal diseases
Children (38):
- ORPHA:91136Acquired monoclonal Ig light chain-associated Fanconi syndrome
- ORPHA:64Alström syndrome
- ORPHA:223Arginine vasopressin resistance
- ORPHA:3145Arginine vasopressin resistance-intracranial calcification-short stature-facial dysmorphism syndrome
- ORPHA:544628Atypical Fanconi syndrome-neonatal hyperinsulinism syndrome
- ORPHA:34528Autosomal dominant primary hypomagnesemia with hypocalciuria
- ORPHA:112Bartter syndrome
- ORPHA:1380Cataract-nephropathy-encephalopathy syndrome
- ORPHA:214Cystinuria
- ORPHA:199343EAST syndrome
- ORPHA:620368EGF-related primary hypomagnesemia with intellectual disability
- ORPHA:358Gitelman syndrome
- ORPHA:620371Gitelman-like kidney tubulopathy due to mitochondrial DNA mutation
- ORPHA:94088Hereditary renal hypouricemia
- ORPHA:324525Hypertrophic cardiomyopathy with kidney anomalies due to mitochondrial DNA mutation
- ORPHA:363694Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome
- ORPHA:528105Hypohidrosis-electrolyte imbalance-lacrimal gland dysfunction-ichthyosis-xerostomia syndrome
- ORPHA:437Hypophosphatemic rickets
- ORPHA:238517Hypotonia-cystinuria type 1 syndrome
- ORPHA:2197Idiopathic hypercalciuria
- ORPHA:199326Isolated autosomal dominant hypomagnesemia, Glaudemans type
- ORPHA:474Jeune syndrome
- ORPHA:73224Kidney tubulopathy-dilated cardiomyopathy syndrome
- ORPHA:688581Midface hypoplasia-hearing impairment-elliptocytosis-nephrocalcinosis syndrome
- ORPHA:363534Mitochondrial DNA depletion syndrome, hepatocerebrorenal form
- ORPHA:93606Nephrogenic syndrome of inappropriate antidiuresis
- ORPHA:534Oculocerebrorenal syndrome of Lowe
- ORPHA:352540Oncogenic osteomalacia
- ORPHA:3337Primary Fanconi renotubular syndrome
- ORPHA:306516Primary hypomagnesemia with hypercalciuria and nephrocalcinosis
- ORPHA:30924Primary hypomagnesemia with secondary hypocalcemia
- ORPHA:620363Primary hypomagnesemia-generalized seizures-intellectual disability-obesity syndrome
- ORPHA:564178Primary hypomagnesemia-refractory seizures-intellectual disability syndrome
- ORPHA:314822Primary renal tubular acidosis
- ORPHA:444916Pseudohypoaldosteronism
- ORPHA:97593Pseudohypoparathyroidism
- ORPHA:505242Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome
- ORPHA:91500Tubulointerstitial nephritis and uveitis syndrome
Codes that Orphanet moved or referred to this one:
- ORPHA:34526OBSOLETE: Genetic primary hypomagnesemia referred to · inactive
- ORPHA:34527OBSOLETE: Familial primary hypomagnesemia with normocalciuria and normocalcemia referred to · inactive
- ORPHA:306519OBSOLETE: Genetic primary hypomagnesemia with hypocalciuria referred to · inactive
- ORPHA:306522OBSOLETE: Genetic primary hypomagnesemia with normocalciuria referred to · inactive
4
Genes
0 directOrphanet records no gene directly on this code.
5
Prevalence and incidence
0 recordsNo prevalence record in this release.
6
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/93603
- This record as JSON: /data/d/93603.json