MCID: CMP037
MIFTS: 19

Complex Glycerol Kinase Deficiency malady

Summaries for Complex Glycerol Kinase Deficiency

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33MalaCards
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MalaCards: Complex Glycerol Kinase Deficiency is related to duchenne muscular dystrophy and mental retardation. An important gene associated with Complex Glycerol Kinase Deficiency is NR0B1 (nuclear receptor subfamily 0, group B, member 1), and among its related pathways are PPAR signaling pathway and Fatty Acid Beta Oxidation. The compounds succinate and glycerol 3-phosphate have been mentioned in the context of this disorder.

Aliases & Classifications for Complex Glycerol Kinase Deficiency

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20GeneTests
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Aliases & Descriptions:

complex glycerol kinase deficiency 20


Related Diseases for Complex Glycerol Kinase Deficiency

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17GeneCards, 18GeneDecks
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Graphical network of diseases related to Complex Glycerol Kinase Deficiency:



Diseases related to complex glycerol kinase deficiency

Clinical Features for Complex Glycerol Kinase Deficiency

Drugs & Therapeutics for Complex Glycerol Kinase Deficiency

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5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Search CenterWatch for Complex Glycerol Kinase Deficiency

Genetic Tests for Complex Glycerol Kinase Deficiency

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20GeneTests
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Genetic tests related to Complex Glycerol Kinase Deficiency:

id Genetic test Affiliating Genes
1 Complex Glycerol Kinase Deficiency20 NR0B1

Anatomical Context for Complex Glycerol Kinase Deficiency

Animal Models for Complex Glycerol Kinase Deficiency or affiliated genes

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28inGenious Targeting Laboratory
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Publications for Complex Glycerol Kinase Deficiency

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51PubMed
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Articles related to Complex Glycerol Kinase Deficiency:

(show all 20)
idTitleAuthorsYear
1
Complex glycerol kinase deficiency - X-linked contiguous gene syndrome involving congenital adrenal hypoplasia, glycerol kinase deficiency, muscular Duchenne dystrophy and intellectual disability (IL1RAPL gene deletion). (23739620)
2012
2
The diagnostic difficulties of complex glycerol kinase deficiency. (20110216)
2010
3
Deletion mapping in Xp21 for patients with complex glycerol kinase deficiency using SNP mapping arrays. (17089405)
2007
4
Complex glycerol kinase deficiency in three children]. (17937854)
2007
5
A multiplex assay for the detection and mapping of complex glycerol kinase deficiency. (16887896)
2006
6
Complex glycerol kinase deficiency: an X-linked disorder associated with adrenal hypoplasia congenita. (15684452)
2005
7
IL1RAPL1 is associated with mental retardation in patients with complex glycerol kinase deficiency who have deletions extending telomeric of DAX1. (15300857)
2004
8
Complex glycerol kinase deficiency leads to psychomotor and body-growth failure. (15009558)
2004
9
Late-onset atopic dermatitis in complex glycerol kinase deficiency with chromosome Xp21 region deletion: is there a pathogenic relationship? (10026415)
1999
10
Syndrome of contiguous gene deletions in Xp-21 (deficiency of the glycerol-kinase complex). The association of Duchenne muscular dystrophy, glycerol kinase deficiency and congenital suprarenal hypoplasia]. (9575126)
1997
11
Dysmorphic features in patients with complex glycerol kinase deficiency. (7752004)
1995
12
Rapid molecular cytogenetic analysis of X-chromosomal microdeletions: fluorescence in situ hybridization (FISH) for complex glycerol kinase deficiency. (7573140)
1995
13
Complex glycerol kinase deficiency: an unusual cause of salt-wasting in males. (7750200)
1995
14
Asthma as the first presenting symptom of complex glycerol kinase deficiency. (1867094)
1991
15
Negative dystrophin staining in muscles of patients with complex glycerol kinase deficiency. (2166152)
1990
16
Myopathy in complex glycerol kinase deficiency patients is due to 3' deletions of the dystrophin gene. (2840818)
1988
17
Complex glycerol kinase deficiency: molecular-genetic, cytogenetic, and clinical studies of five Japanese patients. (2852474)
1988
18
Gonadotropin deficiency as a significant association of complex glycerol kinase deficiency: a case report with cytogenetic and molecular-genetic studies. (2849860)
1988
19
Inherited Xp21 deletion in a boy with complex glycerol kinase deficiency syndrome. (3004790)
1986
20
Complex glycerol kinase deficiency syndrome explained as X-chromosomal deletion. (2988829)
1985

Genetic Variations for Complex Glycerol Kinase Deficiency

Expression for genes affiliated with Complex Glycerol Kinase Deficiency

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Complex Glycerol Kinase Deficiency

Search GEO for disease gene expression data for Complex Glycerol Kinase Deficiency.

Pathways for genes affiliated with Complex Glycerol Kinase Deficiency

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30KEGG, 38NCBI BioSystems Database
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Pathways related to Complex Glycerol Kinase Deficiency according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.4GK, GK2
29.4GK, GK2
39.4GK2, GK
4
Hide members
9.4GK, GK2
59.4GK, GK2

Compounds for genes affiliated with Complex Glycerol Kinase Deficiency

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45Novoseek, 24HMDB, 11DrugBank
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Compounds related to Complex Glycerol Kinase Deficiency according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1succinate459.1DMD, GK
2glycerol 3-phosphate45 2410.1GK, GK2
3glycerol45 11 249.4IL1RAPL1, NR0B1, DMD, GK, GK2

GO Terms for genes affiliated with Complex Glycerol Kinase Deficiency

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16Gene Ontology
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Cellular components related to Complex Glycerol Kinase Deficiency according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1mitochondrial outer membraneGO:0057419.1GK, GK2
2postsynaptic membraneGO:0452119.0IL1RAPL1, DMD

Biological processes related to Complex Glycerol Kinase Deficiency according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1glycerol metabolic processGO:0060719.4GK, GK2
2glycerol catabolic processGO:0195639.1GK, GK2

Molecular functions related to Complex Glycerol Kinase Deficiency according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1glycerol kinase activityGO:0043709.4GK, GK2

Products for genes affiliated with Complex Glycerol Kinase Deficiency

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Complex Glycerol Kinase Deficiency

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet