ORPHA:93610
Distal renal tubular acidosis with anemia
Synonyms: dRTA with anemia
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare form of distal renal tubular acidosis characterized by a defect in renal acidification and hereditary hemolytic anemia.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Distal renal tubular acidosis with anemia | dRTA with anemia |
| fr | Acidose tubulaire rénale distale avec anémie | ATRd avec anémie · dRTA avec anémie |
| de | Azidose, renale tubuläre, mit Anämie | dRTA mit Anämie |
| es | Acidosis tubular renal distal con anemia | dRTA con anemia |
| it | Acidosi tubulare renale distale con anemia | dRTA con anemia |
| nl | Distale renale tubulaire acidose met anemie | dRTA met anemie |
| pt | Acidose tubular renal distal com anemia | dRTA com anemia |
| pl | Kwasica dystalnych kanalików nerkowych z niedokrwistością | dRTA z niedokrwistością |
| cs | Distální renální tubulární acidóza s anémií | dRTA s anémií |
| uk | Дистальний нирковий тубулярний ацидоз з анемією | dRTA з анемією |
| zh | 远端肾小管酸中毒伴贫血 | dRTA伴贫血 |
| tr | Anemi ile seyreden distal renal tübüler asidoz | Anemi ile seyreden dRTA |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 611590 | E | validated | |
| ICD-10 | N25.8 | NTBT | attributed | validated |
| ICD-11 | GB90.44 | NTBT | attributed | validated |
| MONDO | 0012700 | E | validated | |
| UMLS | C5680287 | E | validated | |
| GARD | 12354 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:18Distal renal tubular acidosis
rare genetic diseases; rare renal diseases; rare transplant-related disorders - ORPHA:98364Rare constitutional hemolytic anemia due to a red cell membrane anomaly
rare genetic diseases; rare hematological diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| SLC4A1 | Disease-causing germline mutation(s) in | Assessed | HGNC:11027 | ENSG00000004939 | 109270 | 17q21.31 | solute carrier family 4 member 1 (Diego blood group) |
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Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Europe | Class only | Not yet validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/93610
- This record as JSON: /data/d/93610.json