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, is also known as lesch-nyhan syndrome 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

Symptoms for Hereditary Hyperuricemia

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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
Enhanced glycosylation and sulfation of secretory proteoglycans is coupled to the expression of a basic secretory protein. (9487127)
1998

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