MCID: HRD048

Hereditary Hyperuricemia malady

Categories: Rare diseases, Metabolic diseases

Aliases & Classifications for Hereditary Hyperuricemia

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Aliases & Descriptions for Hereditary Hyperuricemia:

Name: Hereditary Hyperuricemia 45
 
Lesch-Nyhan Syndrome 65

Classifications:



Summaries for Hereditary Hyperuricemia

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MalaCards based summary: Hereditary Hyperuricemia, also known as lesch-nyhan syndrome, is related to hyperuricemia, and has symptoms including extrapyramidal sign, opisthotonus and vomiting. An important gene associated with Hereditary Hyperuricemia is HPRT1 (Hypoxanthine Phosphoribosyltransferase 1).

Related Diseases for Hereditary Hyperuricemia

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Diseases in the Hyperuricemia family:

hereditary hyperuricemia

Diseases related to Hereditary Hyperuricemia via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1hyperuricemia9.8

Symptoms for Hereditary Hyperuricemia

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UMLS symptoms related to Hereditary Hyperuricemia:


extrapyramidal sign, opisthotonus, vomiting

Drugs & Therapeutics for Hereditary Hyperuricemia

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Hereditary Hyperuricemia

Genetic Tests for Hereditary Hyperuricemia

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Anatomical Context for Hereditary Hyperuricemia

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Animal Models for Hereditary Hyperuricemia or affiliated genes

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Publications for Hereditary Hyperuricemia

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Articles related to Hereditary Hyperuricemia:

idTitleAuthorsYear
1
Hereditary hyperuricemia and renal disease. (15660329)
2005

Variations for Hereditary Hyperuricemia

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Expression for genes affiliated with Hereditary Hyperuricemia

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Search GEO for disease gene expression data for Hereditary Hyperuricemia.

Pathways for genes affiliated with Hereditary Hyperuricemia

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GO Terms for genes affiliated with Hereditary Hyperuricemia

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Sources for Hereditary Hyperuricemia

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet