ORPHA:183592
Genetic 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 | Genetic renal tubular disease | |
| fr | Néphropathie tubulaire génétique | |
| de | Renal-tubuläre Störung, genetisch bedingte | |
| es | Nefropatía tubular de origen genético | |
| it | Tubulopatia renale genetica | |
| nl | Genetische renale tubulaire ziekte | |
| pt | Doença tubular renal genética | |
| pl | Choroba kanalików nerkowych uwarunkowana genetycznie | |
| cs | Geneticky podmíněná onemocnění ledvinných tubulů | |
| uk | Генетично обумовлена хвороба ниркових канальців | |
| zh | 遗传性肾小管疾病 | |
| tr | Genetik renal tübüler hastalık |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| MONDO | 15962 | E | validated | |
| UMLS | C5680544 | 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:98056Rare genetic renal disease
rare genetic diseases
Children (36):
- 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:34149Autosomal dominant tubulointerstitial kidney disease
- 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: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:756Pseudohypoaldosteronism type 1
- ORPHA:97593Pseudohypoparathyroidism
- ORPHA:505242Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome
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/183592
- This record as JSON: /data/d/183592.json