Autosomal recessive proximal renal tubular acidosis
Synonyms: AR pRTA · Proximal renal tubular acidosis with ocular abnormalities and intellectual disability
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood
- Status
- active
A rare autosomal recessive form of proximal renal tubular acidosis characterized by an isolated defect in the proximal tubule leading to the decreased reabsorption of bicarbonate and consequentially to urinary bicarbonate wastage. Presentation is typically with hyperchloremic acidosis, usually occurring in childhood. Extrarenal manifestations include ocular abnormalities (band keratopathy, glaucoma, and cataracts), intellectual disability and severe growth retardation. Other features like dental enamel defects, basal ganglia calcification and pancreatitis are sometimes present.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Autosomal recessive proximal renal tubular acidosis | AR pRTA · Proximal renal tubular acidosis with ocular abnormalities and intellectual disability |
| fr | Acidose tubulaire rénale proximale autosomique récessive | AR pRTA · ATRp AR · Acidose tubulaire rénale proximale avec anomalies oculaires et déficience intellectuelle |
| de | Azidose, renale tubuläre, proximale, autosomal-rezessive Form | AR pRTA · Azidose, renale tubuläre, proximale, mit Augenanomalien und Intelligenzminderung |
| es | Acidosis tubular renal proximal autosómica recesiva | Acidosis tubular renal proximal con anomalías oculares y discapacidad intelectual |
| it | Acidosi tubulare renale prossimale autosomica recessiva | pRTA AR · Acidosi tubulare renale prossimale con anomalie oculari e deficit cognitivo |
| nl | Autosomaal recessieve proximale renale tubulaire acidose | Proximale renale tubulaire acidose met oculaire abnormaliteiten en intellectuele achterstand |
| pt | Acidose tubular renal proximal autossómica recessiva | Acidose tubular renal proximal com anomalias oculares e perturbação do desenvolvimento intelectual · pRTA AR |
| pl | Autosomalna recesywna kwasica proksymalnych kanalików nerkowych | AR pRTA · Kwasica proksymalnych kanalików nerkowych z wadami oczu i niepełnosprawnością intelektualną |
| cs | Autozomálně recesivní proximální renální tubulární acidóza | AR pRTA · Proximální renální tubulární acidóza s očními abnormalitami a mentální retardací |
| uk | Аутосомно-рецесивний проксимальний нирковий тубулярний ацидоз | AR pНTA · Проксимальний нирковий канальцевий ацидоз з очними аномаліями та інтелектуальною недостатністю |
| zh | 常染色体隐性遗传性近端肾小管酸中毒 | AR pRTA |
| tr | Otozomal resesif proksimal renal tübüler asidoz | Oküler anormallikler ve zihinsel engellililik ile seyreden proksimal renal tübüler asidoz · AR pRTA |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 604278 | E | validated | |
| ICD-10 | N25.8 | NTBT | attributed | validated |
| ICD-11 | GB90.44 | NTBT | index | validated |
| MONDO | 0011422 | E | validated | |
| MeSH | C567038 | E | validated | |
| UMLS | C1970309 | 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 (2):
- ORPHA:47159Proximal renal tubular acidosis
rare genetic diseases; rare renal diseases - ORPHA:611314Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome
rare genetic diseases; rare neurological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| SLC4A4 | Disease-causing germline mutation(s) in | Assessed | HGNC:11030 | ENSG00000080493 | 603345 | 4q13.3 | solute carrier family 4 member 4 |
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/93607
- This record as JSON: /data/d/93607.json