MCID: HRD048
MIFTS: 15

Hereditary Hyperuricemia

Categories: Blood diseases, Metabolic diseases, Rare diseases

Aliases & Classifications for Hereditary Hyperuricemia

MalaCards integrated aliases for Hereditary Hyperuricemia:

Name: Hereditary Hyperuricemia 53
Lesch-Nyhan Syndrome 73

Classifications:



External Ids:

UMLS 73 C0023374

Summaries for Hereditary Hyperuricemia

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

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 9.9

Symptoms & Phenotypes for Hereditary Hyperuricemia

UMLS symptoms related to Hereditary Hyperuricemia:


vomiting, abnormality of extrapyramidal motor function, opisthotonus

Drugs & Therapeutics for Hereditary Hyperuricemia

Search Clinical Trials , NIH Clinical Center for Hereditary Hyperuricemia

Genetic Tests for Hereditary Hyperuricemia

Anatomical Context for Hereditary Hyperuricemia

MalaCards organs/tissues related to Hereditary Hyperuricemia:

41
Brain, Kidney

Publications for Hereditary Hyperuricemia

Articles related to Hereditary Hyperuricemia:

(show all 24)
# Title Authors Year
1
Xanthine calculi in a patient with Lesch-Nyhan syndrome and factor V Leiden treated with allopurinol: case report. ( 30001695 )
2018
2
Recurrent kidney stones in a child with Lesch-Nyhan syndrome: Questions. ( 30112653 )
2018
3
Recurrent kidney stones in a child with Lesch-Nyhan syndrome: Answers. ( 30112657 )
2018
4
Clinical utility gene card for: Lesch-Nyhan syndrome--update 2013. ( 23321622 )
2013
5
Pallidal deep-brain stimulation associated with complete remission of self-injurious behaviors in a patient with Lesch-Nyhan syndrome: a case report. ( 21940691 )
2012
6
Efficacy of rasburicase in hyperuricemia secondary to Lesch-Nyhan syndrome. ( 18992978 )
2009
7
Hereditary hyperuricemia and renal disease. ( 15660329 )
2005
8
Functional analysis of self-injurious behavior in an adult with Lesch-Nyhan syndrome. ( 11961912 )
2002
9
Cognitive functioning in Lesch-Nyhan syndrome: a 4-year follow-up study. ( 10355810 )
1999
10
Fluorescent approaches to diagnosis of Lesch-Nyhan syndrome and quantitative analysis of carrier status. ( 8232348 )
1993
11
Cerebrospinal fluid cyclic nucleotide alterations in the Lesch-Nyhan syndrome. ( 2560331 )
1989
12
The Lesch-Nyhan syndrome: clinical, molecular and genetic aspects. ( 3076300 )
1988
13
Molecular analysis of Lesch-Nyhan syndrome found in Japan. ( 3413775 )
1988
14
Lesch-Nyhan syndrome: report of two cases. ( 3469343 )
1987
15
Decreased amino acids in various brain areas of patients with Lesch-Nyhan syndrome. ( 7133331 )
1982
16
Hypoxanthine salvage in man: its importance in urate overproduction in the Lesch-Nyhan syndrome. ( 7424648 )
1980
17
Inherited deficiency of hypoxanthine-guanine phosphoribosyltransferase in X-linked uric aciduria (the Lesch-Nyhan syndrome and its variants). ( 779428 )
1976
18
Letter: Magnesium in Lesch-Nyhan syndrome. ( 4855866 )
1974
19
Metabolic implications of the Lesch-Nyhan syndrome. ( 4502722 )
1972
20
The Lesch-Nyhan syndrome. First case description in a South African family. ( 5055933 )
1972
21
A screening technique for the Lesch-Nyhan syndrome. ( 5094259 )
1971
22
Purine requirement of cells cultured from humans affected with Lesch-Nyhan syndrome (hypoxanthine-guanine phosphoribosyltransferase deficiency). ( 5256231 )
1969
23
The Lesch-Nyhan syndrome. ( 5794174 )
1969
24
Lesch-Nyhan syndrome treated from the early neonatal period. ( 5663742 )
1968

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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