Autosomal dominant distal renal tubular acidosis
Synonyms: AD dRTA
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Adolescent, Adult
- Status
- active
A rare autosomal dominant form of distal renal tubular acidosis characterized by hyperchloremic metabolic acidosis often but not always associated with hypokalemia. Disease onset is in adolescence or adulthood and initial manifestations can include polyuria, polydipsia, muscle weakness and fatigue. Osteomalacia or osteopenia, hypercalciuria, nephrolithiasis and nephrocalcinosis may also develop. Renal failure has not been described.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Autosomal dominant distal renal tubular acidosis | AD dRTA |
| fr | Acidose tubulaire rénale distale autosomique dominante | AD dRTA · ATRd AD |
| de | Azidose, renale tubuläre, autosomal-dominante Form | = en |
| es | Acidosis tubular renal distal autosómica dominante | = en |
| it | Acidosi tubulare renale distale autosomica dominante | dRTA AD |
| nl | Autosomaal dominante distale renale tubulaire acidose | = en |
| pt | Acidose tubular renal distal autossómica dominante | = en |
| pl | Autosomalna dominująca kwasica dystalnych kanalików nerkowych | = en |
| cs | Autozomálně dominantní distální renální tubulární acidóza | = en |
| uk | Аутосомно-домінантний дистальний нирковий канальцевий ацидоз | AD dНTA |
| zh | 常染色体显性遗传性远端肾小管酸中毒 | = en |
| tr | Otozomal dominant distal renal tübüler asidoz | = en |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 179800 | E | validated | |
| ICD-10 | N25.8 | NTBT | attributed | validated |
| ICD-11 | GB90.44 | NTBT | attributed | validated |
| MONDO | 0008368 | E | validated | |
| GARD | 4668 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:18Distal renal tubular acidosis
rare genetic diseases; rare renal diseases; rare transplant-related disorders
No children.
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) |
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | 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.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/93608
- This record as JSON: /data/d/93608.json