Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis syndrome

Preferred Label : Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis syndrome;

Symbol : HUPRAS;

CISMeF acronym : HUPRAS;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Hupra syndrome;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the seryl-tRNA synthetase 2 gene (SARS2, 612804.0001);

Laboratory abnormalities : Hyperuricemia; Proteinuria; Hyponatremia; Hypomagnesemia; Increased serum and CSF lactate;

Prefixed ID : #613845;

Details

Origin ID

613845;

UMLS CUI

C3151209;

Currated CISMeF NLP mapping
- HUPRA syndrome [Disease (Nov.)]
- Hyperuricemia, pulmonary hypertension, renal failure, alkalosis syndrome (disorder) [SNOMED CT concept]
- Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome [ORDO Disease]
Genes related to phenotype
- Seryl-trna synthetase 2 [OMIM gene]
HPO term(s)
- Anemia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Chronic kidney disease [HPO term]
- Diabetes mellitus [HPO term]
- Failure to thrive [HPO term]
- Feeding difficulties [HPO term]
- Generalized hypotonia [HPO term]
- Hyperechogenic kidneys [HPO term]
- Hyperuricemia [HPO term]
- Hypochloremic metabolic alkalosis [HPO term]
- Hypomagnesemia [HPO term]
- Hyponatremia [HPO term]
- Hypotonia [HPO term]
- Infantile onset [HPO term]
- Leukopenia [HPO term]
- Polyuria [HPO term]
- Premature birth [HPO term]
- Proteinuria [HPO term]
- Pulmonary arterial hypertension [HPO term]
- Renal salt wasting [HPO term]
- Respiratory failure [HPO term]
- Respiratory insufficiency [HPO term]
- Thrombocytopenia [HPO term]
- Type 2 muscle fiber atrophy [HPO term]
ORDO concept(s)
- Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- HUPRA syndrome [Disease (Nov.)]
- Hyperuricemia, pulmonary hypertension, renal failure, alkalosis syndrome (disorder) [SNOMED CT concept]

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