Autosomal dominant proximal renal tubular acidosis
Synonyms: AD pRTA
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Childhood
- Status
- active
A rare autosomal dominant form of proximal renal tubular acidosis (pRTA) characterized by an isolated defect in the proximal tubule leading to the decreased reabsorption of bicarbonate and consequently causing urinary bicarbonate wastage. Mild growth retardation and reduced bone density are extra-renal complications. Several fractures and delayed puberty are possible features.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Autosomal dominant proximal renal tubular acidosis | AD pRTA |
| fr | Acidose tubulaire rénale proximale autosomique dominante | AD pRTA · ATRp AD |
| de | Azidose, renale tubuläre, proximale, autosomal-dominante Form | = en |
| es | Acidosis tubular renal proximal autosómica dominante | = en |
| it | Acidosi tubolare renale prossimale autosomica dominante | pRTA AD |
| nl | Autosomaal dominante proximale renale tubulaire acidose | = en |
| pt | Acidose tubular renal proximal autossómica dominante | = en |
| pl | Autosomalna dominująca kwasica proksymalnych kanalików nerkowych | = en |
| cs | Autozomálně dominantní proximální renální tubulární acidóza | = en |
| uk | Аутосомно-домінантний проксимальний нирковий канальцевий ацидоз | = en |
| zh | 常染色体显性遗传近端肾小管性酸中毒 | 常染色体显性pRTA |
| tr | Otozomal dominant proksimal renal tübüler asidoz | = en |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | N25.8 | NTBT | attributed | validated |
| MONDO | 0017829 | E | validated | |
| UMLS | C5679902 | 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:47159Proximal renal tubular acidosis
rare genetic diseases; rare renal diseases
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 1 families | Worldwide | Family(ies) | Validated | 10972690[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_10972690[PMID] |
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/314889
- This record as JSON: /data/d/314889.json