MCID: ESS007
MIFTS: 15

Essential Pentosuria

Categories: Rare diseases, Metabolic diseases, Genetic diseases

Aliases & Classifications for Essential Pentosuria

MalaCards integrated aliases for Essential Pentosuria:

Name: Essential Pentosuria 24 28
Essential Benign Pentosuria 24 69
Pentosuria 24 69
Xylitol Dehydrogenase Deficiency 24
L-Xylulose Reductase Deficiency 24
L-Xylulosuria 24

Classifications:



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Summaries for Essential Pentosuria

Genetics Home Reference : 24 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. 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 12.0

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 28 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

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
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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