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GTR Home > Conditions/Phenotypes > Autosomal recessive proximal renal tubular acidosis

Autosomal recessive proximal renal tubular acidosis

Synonyms
PROXIMAL RENAL TUBULAR ACIDOSIS-OCULAR ANOMALY SYNDROME; Proximal Renal Tubular Acidosis with Ocular Abnormalities; RENAL TUBULAR ACIDOSIS, PROXIMAL, WITH OCULAR ABNORMALITIES AND IMPAIRED INTELLECTUAL DEVELOPMENT; RTA, PROXIMAL, AUTOSOMAL RECESSIVE
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

Proximal renal tubular acidosis-ocular anomaly syndrome (PRTAO) is a rare autosomal recessive systemic disease resulting from isolated impairment of bicarbonate (HCO3-) reabsorption in the proximal renal tubules, which is characterized by a decreased renal HCO3- threshold. Affected individuals exhibit stunted growth and eye anomalies, including band keratopathy, cataracts, and glaucoma. Affected individuals may also exhibit impaired intellectual development and dental defects (Igarashi et al., 2001; Inatomi et al., 2004; Dinour et al., 2004). [from OMIM]

Available tests

30 tests are in the database for this condition.

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Clinical tests (30 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: HNBC1, KNBC, NBC1, NBC2, NBCe1, NBCe1-A, PRTAO, SLC4A5, hhNMC, kNBC1, pNBC, SLC4A4
    Summary: solute carrier family 4 member 4

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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