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Hyperuricemia, pulmonary hypertension, renal failure, alkalosis syndrome

Synonyms
HUPRA SYNDROME; HYPERURICEMIA, PULMONARY HYPERTENSION, RENAL FAILURE, AND ALKALOSIS SYNDROME; Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

HUPRA syndrome is a severe autosomal recessive multisystem disorder characterized by onset in infancy of progressive renal failure leading to electrolyte imbalances, metabolic alkalosis, pulmonary hypertension, hypotonia, and delayed development. Affected individuals are born prematurely (summary by Belostotsky et al., 2011). [from OMIM]

Available tests

32 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (32 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: SARS, SARSM, SERS, SYS, SerRS, SerRSmt, mtSerRS, SARS2
    Summary: seryl-tRNA synthetase 2, mitochondrial

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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