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 25 29 6 40
Essential Benign Pentosuria 25 73
Pentosuria 25 73
Xylitol Dehydrogenase Deficiency 25
L-Xylulose Reductase Deficiency 25
L-Xylulosuria 25

Classifications:



External Ids:

Summaries for Essential Pentosuria

Genetics Home Reference : 25 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 12.1
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 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 29 DCXR

Anatomical Context for Essential Pentosuria

Publications for Essential Pentosuria

Articles related to Essential Pentosuria:

(show all 14)
# Title Authors Year
1
An error in classical Essential pentosuria with a discussion on its origin. ( 11621986 )
1989
2
On the nature of L-xylulose reductase deficiency in essential pentosuria. ( 3994659 )
1985
3
The enzymatic defect in essential pentosuria. ( 4392213 )
1970
4
ESSENTIAL PENTOSURIA. ( 14343031 )
1965
5
Essential Pentosuria. ( 20789862 )
1963
6
Essential pentosuria. ( 14455483 )
1962
7
The inheritance of essential pentosuria. ( 14437831 )
1960
8
Essential pentosuria and the glucuronate-xylulose pathway. ( 13777751 )
1960
9
Essential pentosuria: renal or enzymic disorder. ( 13803619 )
1959
10
Essential pentosuria. ( 13230505 )
1955
11
Paper chromatography of the urinary sugar in essential pentosuria. ( 13135664 )
1953
12
Chronic essential pentosuria; a report of three cases. ( 18132568 )
1949
13
Chronic essential pentosuria, with a report of a case. ( 20988974 )
1946
14
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 DCXR, 1-BP DEL, 583C deletion Affects
2 DCXR NM_016286.3(DCXR): c.52+1G> A single nucleotide variant Affects rs375243154 GRCh38 Chromosome 17, 82037630: 82037630
3 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 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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