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 48
 
Lesch-Nyhan Syndrome 68

Classifications:



Summaries for Hereditary Hyperuricemia

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MalaCards based summary: Hereditary Hyperuricemia, also known as lesch-nyhan syndrome, is related to hyperuricemia, and has symptoms including vomiting, opisthotonus and extrapyramidal sign. 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
1hyperuricemia9.7

Symptoms & Phenotypes for Hereditary Hyperuricemia

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UMLS symptoms related to Hereditary Hyperuricemia:


vomiting, opisthotonus, extrapyramidal sign

Drugs & Therapeutics for Hereditary Hyperuricemia

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Interventional clinical trials:

idNameStatusNCT IDPhase
1Metabolic Consequences of Heterozygous Hereditary Fructose IntoleranceCompletedNCT02979106

Search NIH Clinical Center for Hereditary Hyperuricemia

Genetic Tests for Hereditary Hyperuricemia

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Anatomical Context for Hereditary Hyperuricemia

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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 43)
id Gene Variation Type Significance SNP ID Assembly Location
1HPRT1HPRT CHICAGOinsertionPathogenicChr na, -1: -1
2HPRT1HPRT CONNERSVILLEdeletionPathogenicChr na, -1: -1
3HPRT1NM_000194.2(HPRT1): c.122T> C (p.Leu41Pro)SNVPathogenicrs137852480GRCh37Chr X, 133607483: 133607483
4HPRT1NM_000194.2(HPRT1): c.643_*6del21 (p.Lys215fs)deletionPathogenicrs387906428GRCh37Chr X, 133634093: 133634113
5HPRT1NM_000194.2(HPRT1): c.222C> A (p.Phe74Leu)SNVPathogenicrs137852481GRCh37Chr X, 133609298: 133609298
6HPRT1NM_000194.2(HPRT1): c.580G> A (p.Asp194Asn)SNVPathogenicrs267606863GRCh37Chr X, 133632685: 133632685
7HPRT1HPRT MICHIGANdeletionPathogenicChr na, -1: -1
8HPRT1NM_000194.2(HPRT1): c.389T> A (p.Val130Asp)SNVPathogenicrs137852483GRCh37Chr X, 133624222: 133624222
9HPRT1NM_000194.2(HPRT1): c.595T> G (p.Phe199Val)SNVPathogenicrs137852486GRCh37Chr X, 133632700: 133632700
10HPRT1NM_000194.2(HPRT1): c.209G> A (p.Gly70Glu)SNVPathogenicrs137852487GRCh37Chr X, 133609285: 133609285
11HPRT1NM_000194.2(HPRT1): c.211G> C (p.Gly71Arg)SNVLikely pathogenic, Pathogenicrs137852488GRCh37Chr X, 133609287: 133609287
12HPRT1NM_000194.2(HPRT1): c.325C> T (p.Gln109Ter)SNVPathogenicrs137852489GRCh37Chr X, 133620501: 133620501
13HPRT1NM_000194.2(HPRT1): c.610C> G (p.His204Asp)SNVPathogenicrs137852490GRCh37Chr X, 133634060: 133634060
14HPRT1NM_000194.2(HPRT1): c.134G> A (p.Arg45Lys)SNVPathogenicrs137852491GRCh37Chr X, 133607495: 133607495
15HPRT1NM_000194.2(HPRT1): c.529G> T (p.Asp177Tyr)SNVPathogenicrs137852492GRCh37Chr X, 133632463: 133632463
16HPRT1HPRT, 2-BP DEL, GTdeletionPathogenicChr na, -1: -1
17HPRT1HPRT, 1-BP DEL, TTA-TAdeletionPathogenicChr na, -1: -1
18HPRT1HPRT, 1-BP DEL, TTG-TGdeletionPathogenicChr na, -1: -1
19HPRT1HPRT, 40-BP DELdeletionPathogenicChr na, -1: -1
20HPRT1HPRT, IVS8DS, G-A, +5SNVPathogenicChr na, -1: -1
21HPRT1NM_000194.2(HPRT1): c.610-4_610-2delATAinsTTTindelPathogenicrs672601245GRCh37Chr X, 133634056: 133634058
22HPRT1HPRT, IVS7DS, G-A, +5SNVPathogenicChr na, -1: -1
23HPRT1HPRT, IVS1AS, A-T, -2SNVPathogenicChr na, -1: -1
24HPRT1NM_000194.2(HPRT1): c.527C> T (p.Pro176Leu)SNVPathogenicrs137852493GRCh37Chr X, 133632461: 133632461
25HPRT1NM_000194.2(HPRT1): c.151C> T (p.Arg51Ter)SNVPathogenicrs137852494GRCh37Chr X, 133609227: 133609227
26HPRT1NM_000194.2(HPRT1): c.428T> A (p.Met143Lys)SNVPathogenicrs137852496GRCh37Chr X, 133627563: 133627563
27HPRT1NM_000194.2(HPRT1): c.508C> T (p.Arg170Ter)SNVPathogenicrs137852497GRCh37Chr X, 133632442: 133632442
28HPRT1HPRT, EX2DELdeletionPathogenicChr na, -1: -1
29HPRT1HPRT, EX4-9DELdeletionPathogenicChr na, -1: -1
30HPRT1NG_012329.1: g.(38034_38038)_(46028_46032)deldeletionPathogenicGRCh38Chr X, 134493178: 134501176
31HPRT1HPRT, EX9DELdeletionPathogenicChr na, -1: -1
32HPRT1HPRT, DELdeletionPathogenicChr na, -1: -1
33HPRT1HPRT,1-BP INS, 207GinsertionPathogenicChr na, -1: -1
34HPRT1HPRT, INV/DEL, EX6-9deletionPathogenicChr na, -1: -1
35HPRT1HPRT, EX2-3DUP, IVS1DELduplicationPathogenicChr na, -1: -1
36HPRT1HPRT CHERMSIDEdeletionPathogenicChr na, -1: -1
37HPRT1HPRT COORPAROOinsertionPathogenicChr na, -1: -1
38HPRT1NM_000194.2(HPRT1): c.419G> A (p.Gly140Asp)SNVPathogenicrs137852503GRCh37Chr X, 133627554: 133627554
39HPRT1NM_000194.2(HPRT1): c.459T> G (p.Tyr153Ter)SNVPathogenicrs137852505GRCh37Chr X, 133627594: 133627594
40HPRT1NM_000194.2(HPRT1): c.-707_27+2236deldeletionPathogenicGRCh38Chr X, 134459605: 134462608
41HPRT1NM_000194.2(HPRT1): c.212dupG (p.Tyr72Leufs)duplicationPathogenicrs786200980GRCh37Chr X, 133609288: 133609288
42HPRT1NM_000194.2(HPRT1): c.580G> C (p.Asp194His)SNVPathogenicrs267606863GRCh37Chr X, 133632685: 133632685
43HPRT1NM_000194.2(HPRT1): c.384+1G> ASNVPathogenicrs398123240GRCh37Chr X, 133620561: 133620561

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
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet