MCID: HRD048
MIFTS: 8

Hereditary Hyperuricemia

Categories: Rare diseases, Metabolic diseases, Blood diseases

Aliases & Classifications for Hereditary Hyperuricemia

MalaCards integrated aliases for Hereditary Hyperuricemia:

Name: Hereditary Hyperuricemia 53
Lesch-Nyhan Syndrome 73

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:

# Related Disease Score Top Affiliating Genes
1 hyperuricemia 9.8

Symptoms & Phenotypes for Hereditary Hyperuricemia

UMLS symptoms related to Hereditary Hyperuricemia:


vomiting, opisthotonus, abnormality of extrapyramidal motor function

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
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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