Hyperoxaluria, primary, type I

Preferred Label : Hyperoxaluria, primary, type I;

Symbol : HP1;

CISMeF acronym : HP1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Peroxisomal alanine:glyoxylate aminotransferase deficiency; Glycolic aciduria; Hepatic agt deficiency; Serine:pyruvate aminotransferase deficiency; Alanine-glyoxylate aminotransferase deficiency; Oxalosis I;

Description : Primary hyperoxaluria type I is an autosomal recessive disorder characterized by an accumulation of calcium oxalate in various bodily tissues, especially the kidney, resulting in renal failure. Affected individuals have decreased or absent AGXT activity and a failure to transaminate glyoxylate, which causes the accumulated glyoxylate to be oxidized to oxalate. This overproduction of oxalate results in the accumulation of nonsoluble calcium oxalate in various body tissues, with pathologic sequelae (Takada et al., 1990; Danpure et al., 1989; Williams et al., 2009) - Genetic Heterogeneity Type II primary hyperoxaluria (HP2; 260000) is caused by mutation in the glyoxylate reductase/hydroxypyruvate reductase gene (GRHPR; 604296) on chromosome 9. Type III primary hyperoxaluria (HP3; 613616) is caused by mutation in the mitochondrial dihydrodipicolinate synthase-like gene (DHDPSL; 613597) on chromosome 10q24.;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the alanine-glyoxylate aminotransferase gene (AGXT, 604285.0001);

Laboratory abnormalities : Hyperoxaluria; Hyperoxalemia; Hyperglycolic aciduria; Diffuse deposition of calcium oxalate in various tissues; Decreased AGT activity;

Prefixed ID : #259900;

Details

Origin ID

259900;

UMLS CUI

C0268164;

Automatic exact mappings (from CISMeF team)
- Heterochromatin Protein 1 [NCIt concept]
- Oxalosis [PASCAL descriptor]
- alanine--glyoxylate aminotransferase [ORDO Gene]
- alanine--glyoxylate aminotransferase [HGNC gene]
- chromobox 5 [HGNC gene]
- hyperoxaluria [MeSH Descriptor]
- hyperoxaluria, primary [MeSH Descriptor]
- oxalosis [MeSH concept]
- primary hyperoxaluria type 1 [DO Concept]
Broader ORDO disease(s)
- Primary hyperoxaluria [ORDO Disease]
DO Cross reference
- primary hyperoxaluria type 1 [DO Concept]
Genes related to phenotype
- Alanine-glyoxylate aminotransferase [OMIM gene]
HPO term(s)
- Acrocyanosis [HPO term]
- Arterial occlusion [HPO term]
- Atrioventricular block [HPO term]
- Autosomal recessive inheritance [HPO term]
- Bone pain [HPO term]
- Calcinosis cutis [HPO term]
- Calcium oxalate nephrolithiasis [HPO term]
- Calcium oxalate urolithiasis [HPO term]
- Choroidal neovascularization [HPO term]
- Cutis marmorata [HPO term]
- Gangrene [HPO term]
- Heart block [HPO term]
- Hematuria [HPO term]
- Hyperoxaluria [HPO term]
- Increased bone mineral density [HPO term]
- Intermittent claudication [HPO term]
- Metabolic acidosis [HPO term]
- Nephrocalcinosis [HPO term]
- Optic atrophy [HPO term]
- Optic neuropathy [HPO term]
- Pathologic fracture [HPO term]
- Peripheral arterial stenosis [HPO term]
- Peripheral neuropathy [HPO term]
- Raynaud phenomenon [HPO term]
- Renal insufficiency [HPO term]
- Retinal crystals [HPO term]
- Retinopathy [HPO term]
ORDO concept(s)
- Primary hyperoxaluria [ORDO Disease]
- Primary hyperoxaluria type 1 [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Primary Hyperoxaluria Type I [NCIt concept]
- Primary hyperoxaluria type 1 [MeSH concept]
- Primary hyperoxaluria type 1 [ORDO Disease]
- Primary hyperoxaluria type 1 [ICD-11 Sub-sub category]
- Primary hyperoxaluria, type I (disorder) [SNOMED CT concept]
- primary hyperoxaluria type 1 [MeSH Supplementary Concept]
- primary hyperoxaluria type 1 [DO Concept]
- primary hyperoxaluria type I [Disease (Nov.)]
- primary hyperoxaluria, type i [SNOMED Notion]
Validated automatic mappings to NTBT
- Primary hyperoxaluria [ORDO Disease]

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