MCID: ESS007
MIFTS: 18

Essential Pentosuria

Categories: Genetic diseases, Metabolic diseases, Nephrological diseases, Rare diseases

Aliases & Classifications for Essential Pentosuria

MalaCards integrated aliases for Essential Pentosuria:

Name: Essential Pentosuria 26 30 6 41
Essential Benign Pentosuria 26 74
Pentosuria 26 74
Xylitol Dehydrogenase Deficiency 26
L-Xylulose Reductase Deficiency 26
L-Xylulosuria 26

Classifications:



External Ids:

Summaries for Essential Pentosuria

Genetics Home Reference : 26 Essential pentosuria is a condition characterized by high levels of a sugar called L-xylulose in urine. The condition is so named because L-xylulose is a type of sugar called a pentose. Despite the excess sugar, affected individuals have no associated health problems.

MalaCards based summary : Essential Pentosuria, also known as essential benign pentosuria, is related to pentosuria and neuromuscular disease. An important gene associated with Essential Pentosuria is DCXR (Dicarbonyl And L-Xylulose Reductase).

Related Diseases for Essential Pentosuria

Diseases in the Pentosuria family:

Essential Pentosuria

Diseases related to Essential Pentosuria via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 pentosuria 12.2
2 neuromuscular disease 10.2
3 inherited metabolic disorder 10.2
4 muscular dystrophy 10.2
5 alkaptonuria 10.0
6 cystinuria 10.0
7 fructosuria, essential 10.0
8 renal glucosuria 10.0
9 albinism 10.0

Graphical network of the top 20 diseases related to Essential Pentosuria:



Diseases related to Essential Pentosuria

Symptoms & Phenotypes for Essential Pentosuria

Drugs & Therapeutics for Essential Pentosuria

Search Clinical Trials , NIH Clinical Center for Essential Pentosuria

Genetic Tests for Essential Pentosuria

Genetic tests related to Essential Pentosuria:

# Genetic test Affiliating Genes
1 Essential Pentosuria 30 DCXR

Anatomical Context for Essential Pentosuria

Publications for Essential Pentosuria

Articles related to Essential Pentosuria:

(show all 15)
# Title Authors Year
1
Garrod's fourth inborn error of metabolism solved by the identification of mutations causing pentosuria. ( 22042873 )
2011
2
An error in classical Essential pentosuria with a discussion on its origin. ( 11621986 )
1989
3
On the nature of L-xylulose reductase deficiency in essential pentosuria. ( 3994659 )
1985
4
The enzymatic defect in essential pentosuria. ( 4392213 )
1970
5
ESSENTIAL PENTOSURIA. ( 14343031 )
1965
6
Essential Pentosuria. ( 20789862 )
1963
7
Essential pentosuria. ( 14455483 )
1962
8
Essential pentosuria and the glucuronate-xylulose pathway. ( 13777751 )
1960
9
The inheritance of essential pentosuria. ( 14437831 )
1960
10
Essential pentosuria: renal or enzymic disorder. ( 13803619 )
1959
11
Essential pentosuria. ( 13230505 )
1955
12
Paper chromatography of the urinary sugar in essential pentosuria. ( 13135664 )
1953
13
Chronic essential pentosuria; a report of three cases. ( 18132568 )
1949
14
Chronic essential pentosuria, with a report of a case. ( 20988974 )
1946
15
SEVEN CASES OF ESSENTIAL PENTOSURIA. ( 20770070 )
1920

Variations for Essential Pentosuria

ClinVar genetic disease variations for Essential Pentosuria:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 DCXR NM_016286.3(DCXR): c.583delC (p.His195Thrfs) deletion Affects GRCh37 Chromosome 17, 79994115: 79994115
2 DCXR NM_016286.3(DCXR): c.583delC (p.His195Thrfs) deletion Affects GRCh38 Chromosome 17, 82036239: 82036239
3 DCXR NM_016286.3(DCXR): c.52+1G> A single nucleotide variant Affects rs375243154 GRCh38 Chromosome 17, 82037630: 82037630
4 DCXR NM_016286.3(DCXR): c.52+1G> A single nucleotide variant Affects rs375243154 GRCh37 Chromosome 17, 79995506: 79995506

Expression for Essential Pentosuria

Search GEO for disease gene expression data for Essential Pentosuria.

Pathways for Essential Pentosuria

GO Terms for Essential Pentosuria

Sources for Essential Pentosuria

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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