MCID: HRD048
MIFTS: 8

Hereditary Hyperuricemia

Categories: Rare diseases, Metabolic diseases

Aliases & Classifications for Hereditary Hyperuricemia

MalaCards integrated aliases for Hereditary Hyperuricemia:

Name: Hereditary Hyperuricemia 49
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 abnormality of extrapyramidal motor function, opisthotonus and vomiting. 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:

# Related Disease Score Top Affiliating Genes
1 hyperuricemia 9.7

Symptoms & Phenotypes for Hereditary Hyperuricemia

UMLS symptoms related to Hereditary Hyperuricemia:


abnormality of extrapyramidal motor function, opisthotonus, vomiting

Drugs & Therapeutics for Hereditary Hyperuricemia

Search Clinical Trials , 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:

# 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
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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