MCID: HRD048
MIFTS: 8

Hereditary Hyperuricemia malady

Categories: Rare diseases, Metabolic diseases

Aliases & Classifications for Hereditary Hyperuricemia

Aliases & Descriptions for Hereditary Hyperuricemia:

Name: Hereditary Hyperuricemia 50
Lesch-Nyhan Syndrome 69

Classifications:



Summaries for Hereditary Hyperuricemia

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

Related Diseases for Hereditary Hyperuricemia

Diseases in the Hyperuricemia family:

Hereditary Hyperuricemia

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

id Related Disease Score Top Affiliating Genes
1 hyperuricemia 9.7

Symptoms & Phenotypes for Hereditary Hyperuricemia

UMLS symptoms related to Hereditary Hyperuricemia:


vomiting, opisthotonus, abnormality of extrapyramidal motor function

Drugs & Therapeutics for Hereditary Hyperuricemia

Interventional clinical trials:


id Name Status NCT ID Phase
1 Metabolic Consequences of Heterozygous Hereditary Fructose Intolerance Completed NCT02979106

Search NIH Clinical Center for Hereditary Hyperuricemia

Genetic Tests for Hereditary Hyperuricemia

Anatomical Context for Hereditary Hyperuricemia

Publications for Hereditary Hyperuricemia

Articles related to Hereditary Hyperuricemia:

id Title Authors Year
1
Hereditary hyperuricemia and renal disease. ( 15660329 )
2005

Variations for Hereditary Hyperuricemia

Expression for Hereditary Hyperuricemia

Search GEO for disease gene expression data for Hereditary Hyperuricemia.

Pathways for Hereditary Hyperuricemia

GO Terms for Hereditary Hyperuricemia

Sources for Hereditary Hyperuricemia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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