Proximal renal tubular acidosis-ocular anomaly syndrome

Preferred Label : Proximal renal tubular acidosis-ocular anomaly syndrome;

Symbol : PRTAO;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Rta, proximal, autosomal recessive; Renal tubular acidosis, proximal, with ocular abnormalities and mental retardation; Renal tubular acidosis, proximal, with ocular abnormalities and impaired intellectual development;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutations in the solute carrier family 4, sodium bicarbonate cotransporter, member 4 gene (SLC4A4, 603345.0001);

Prefixed ID : #604278;

Details

Origin ID

604278;

UMLS CUI

C1970309;

Automatic exact mappings (from CISMeF team)
- Proximal renal tubular acidosis [ORDO Disease]
- renal tubular acidosis, proximal, with ocular abnormalities and mental retardation [MeSH Supplementary Concept]
- renal tubular acidosis, proximal, with ocular abnormalities and mental retardation [MeSH concept]
Currated CISMeF NLP mapping
- Autosomal recessive proximal renal tubular acidosis [ORDO Disease]
- Proximal renal tubular acidosis with ocular abnormalities and intellectual deficit [ICD-11 More detail]
Genes related to phenotype
- Solute carrier family 4 (sodium bicarbonate cotransporter), member 4 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Band keratopathy [HPO term]
- Bicarbonate-wasting renal tubular acidosis [HPO term]
- Cataract [HPO term]
- Cerebral calcification [HPO term]
- Childhood onset [HPO term]
- Corneal opacity [HPO term]
- Decreased serum bicarbonate concentration [HPO term]
- Early young adult onset [HPO term]
- Glaucoma [HPO term]
- Growth delay [HPO term]
- Hyperamylasemia [HPO term]
- Hyperchloremic acidosis [HPO term]
- Hypokalemia [HPO term]
- Impaired renal tubular reabsorption of bicarbonate [HPO term]
- Increased red cell osmotic resistance [HPO term]
- Intellectual disability [HPO term]
- Metabolic acidosis [HPO term]
- Proximal renal tubular acidosis [HPO term]
- Short stature [HPO term]
ORDO concept(s)
- Autosomal recessive proximal renal tubular acidosis [ORDO Disease]
- Proximal renal tubular acidosis [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Autosomal recessive proximal renal tubular acidosis [ORDO Disease]
- Proximal renal tubular acidosis with ocular abnormalities and intellectual deficit [ICD-11 More detail]
- renal tubular acidosis, proximal, with ocular abnormalities and mental retardation [MeSH Supplementary Concept]
- renal tubular acidosis, proximal, with ocular abnormalities and mental retardation [MeSH concept]

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