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 46
 
Lesch-Nyhan Syndrome 66

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 vomiting, opisthotonus and extrapyramidal sign. 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:


vomiting, opisthotonus, extrapyramidal sign

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
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet