MCID: HRD048

Hereditary Hyperuricemia malady

Rare diseases, Metabolic diseases, Blood diseases categories

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, also known as lesch-nyhan syndrome, is related to hyperuricemia. 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
1hyperuricemia10.1

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
Hereditary hyperuricemia and renal disease. (15660329)
2005

Variations for Hereditary Hyperuricemia

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Clinvar genetic disease variations for Hereditary Hyperuricemia:

5 (show all 25)
id Gene Variation Type Significance SNP ID Assembly Location
1HPRT1NM_000194.2(HPRT1): c.325C> T (p.Gln109Ter)single nucleotide variantPathogenicrs137852489GRCh37Chr X, 133620501: 133620501
2HPRT1NM_000194.2(HPRT1): c.610C> G (p.His204Asp)single nucleotide variantPathogenicrs137852490GRCh37Chr X, 133634060: 133634060
3HPRT1NM_000194.2(HPRT1): c.134G> A (p.Arg45Lys)single nucleotide variantPathogenicrs137852491GRCh37Chr X, 133607495: 133607495
4HPRT1NM_000194.2(HPRT1): c.529G> T (p.Asp177Tyr)single nucleotide variantPathogenicrs137852492GRCh37Chr X, 133632463: 133632463
5HPRT1HPRT, 2-BP DEL, GTdeletionPathogenic
6HPRT1HPRT, 1-BP DEL, TTA-TAdeletionPathogenic
7HPRT1HPRT, 1-BP DEL, TTG-TGdeletionPathogenic
8HPRT1HPRT, 40-BP DELdeletionPathogenic
9HPRT1HPRT, IVS8DS, G-A, +5single nucleotide variantPathogenic
10HPRT1NM_000194.2(HPRT1): c.610-4_610-2delATAinsTTTindelPathogenicrs672601245GRCh37Chr X, 133634056: 133634058
11HPRT1HPRT, IVS7DS, G-A, +5single nucleotide variantPathogenic
12HPRT1HPRT, IVS1AS, A-T, -2single nucleotide variantPathogenic
13HPRT1NM_000194.2(HPRT1): c.527C> T (p.Pro176Leu)single nucleotide variantPathogenicrs137852493GRCh37Chr X, 133632461: 133632461
14HPRT1NM_000194.2(HPRT1): c.428T> A (p.Met143Lys)single nucleotide variantPathogenicrs137852496GRCh37Chr X, 133627563: 133627563
15HPRT1NM_000194.2(HPRT1): c.508C> T (p.Arg170Ter)single nucleotide variantPathogenicrs137852497GRCh37Chr X, 133632442: 133632442
16HPRT1HPRT, EX2DELdeletionPathogenic
17HPRT1HPRT, EX4-9DELdeletionPathogenic
18HPRT1NG_012329.1: g.(38034_38038)_(46028_46032)deldeletionPathogenicGRCh38Chr X, 134493178: 134501176
19HPRT1HPRT, EX9DELdeletionPathogenic
20HPRT1HPRT, DELdeletionPathogenic
21HPRT1HPRT,1-BP INS, 207GinsertionPathogenic
22HPRT1HPRT, INV/DEL, EX6-9deletionPathogenic
23HPRT1HPRT, EX2-3DUP, IVS1DELduplicationPathogenic
24HPRT1NM_000194.2(HPRT1): c.-707_27+2236deldeletionPathogenicGRCh38Chr X, 134459605: 134462608
25HPRT1NM_000194.2(HPRT1): c.212dupG (p.Tyr72Leufs)duplicationPathogenicrs786200980GRCh37Chr X, 133609288: 133609288

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