ORPHA:97369
Renal tubular dysgenesis of genetic origin
- Type
- Etiological subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal recessive
- Status
- active
This disease is described under Renal tubular dysgenesis
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Renal tubular dysgenesis of genetic origin | |
| fr | Dysgénésie tubulaire rénale d'origine génétique | |
| de | Dysgenesie, renale tubuläre, genetisch-bedingte | |
| es | Disgenesia tubular renal de origen genético | |
| it | Disgenesia dei tubuli renali con origine genetica | |
| nl | Renale tubulaire dysgenesie van genetische oorsprong | |
| pt | Disgenesia tubular renal de origem genética | |
| pl | Dysgenezja kanalików nerkowych pochodzenia genetycznego | |
| cs | Geneticky podmíněná renální tubulární dysgeneze | |
| uk | Генетично обумовлена дисгенезія ниркових канальців | |
| zh | 遗传性肾小管发育不全 | |
| tr | Genetik kökenli renal tübüler disgenezi |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 267430 | E | validated | |
| ICD-10 | Q63.8 | NTBT | attributed | validated |
| ICD-11 | LB30.3 | NTBT | index | validated |
| MONDO | 0009970 | E | validated | |
| UMLS | C5681536 | 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 (2):
- ORPHA:357506Genetic non-syndromic renal or urinary tract malformation
rare genetic diseases - ORPHA:3033Renal tubular dysgenesis
rare developmental anomalies during embryogenesis; rare renal diseases; rare transplant-related disorders
No children.
4
Genes
4 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| ACE | Disease-causing germline mutation(s) in | Assessed | HGNC:2707 | ENSG00000159640 | 106180 | 17q23.3 | angiotensin I converting enzyme | 16116425[PMID]_22095942[PMID] |
| AGT | Disease-causing germline mutation(s) in | Assessed | HGNC:333 | ENSG00000135744 | 106150 | 1q42.2 | angiotensinogen | 16116425[PMID]_22095942[PMID] |
| AGTR1 | Disease-causing germline mutation(s) in | Assessed | HGNC:336 | ENSG00000144891 | 106165 | 3q24 | angiotensin II receptor type 1 | 16116425[PMID]_22095942[PMID] |
| REN | Disease-causing germline mutation(s) in | Assessed | HGNC:9958 | ENSG00000143839 | 179820 | 1q32.1 | renin | 16116425[PMID]_22095942[PMID] |
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/97369
- This record as JSON: /data/d/97369.json