MCID: CMP037
MIFTS: 24

Complex Glycerol Kinase Deficiency malady

Genetic diseases (common) category
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Summaries for Complex Glycerol Kinase Deficiency

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33MalaCards
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MalaCards: Complex Glycerol Kinase Deficiency is related to myopathy and intellectual disability. 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, triacylglycerol, and ketone body metabolism. The compounds succinate and glycerol 3-phosphate have been mentioned in the context of this disorder. Related mouse phenotype endocrine/exocrine gland.

Aliases & Classifications for Complex Glycerol Kinase Deficiency

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20GeneTests
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases (common)


Aliases & Descriptions:

complex glycerol kinase deficiency 20


Related Diseases for Complex Glycerol Kinase Deficiency

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17GeneCards, 18GeneDecks
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Diseases related to Complex Glycerol Kinase Deficiency via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 17)
idRelated DiseaseScoreTop Affiliating Genes
1myopathy30.5GK, DMD
2intellectual disability30.4IL1RAPL1, GK, DMD
3mental retardation30.3DMD, GK, IL1RAPL1, NR0B1
4atopic dermatitis10.3
5asthma10.3
6dermatitis10.3
7monosomy xp2110.3
8aland island eye disease10.1GK
9x-linked adrenal hypoplasia congenita10.1NR0B1
10dystrophinopathies10.1DMD
11metaphyseal dysplasia10.0NR0B1
12duchenne muscular dystrophy10.0NR0B1, GK
13becker muscular dystrophy10.0DMD, GK
14hypogonadism10.0GK, NR0B1
15muscular dystrophy10.0DMD, GK
16hyperglycerolemia9.8NR0B1, IL1RAPL1, GK, GK2, DMD
17addison's disease9.8DMD, GK2, GK, IL1RAPL1, NR0B1

Graphical network of diseases related to Complex Glycerol Kinase Deficiency:



Diseases related to complex glycerol kinase deficiency

Symptoms for Complex Glycerol Kinase Deficiency

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Drugs & Therapeutics for Complex Glycerol Kinase Deficiency

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42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

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Search NIH Clinical Center 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

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Animal Models for Complex Glycerol Kinase Deficiency or affiliated genes

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37MGI
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MGI Mouse Phenotypes related to Complex Glycerol Kinase Deficiency:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053798.7NR0B1, GK, DMD

Publications for Complex Glycerol Kinase Deficiency

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52PubMed
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Articles related to Complex Glycerol Kinase Deficiency:

(show all 19)
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
Dysmorphic features in patients with complex glycerol kinase deficiency. (7752004)
1995
11
Rapid molecular cytogenetic analysis of X-chromosomal microdeletions: fluorescence in situ hybridization (FISH) for complex glycerol kinase deficiency. (7573140)
1995
12
Complex glycerol kinase deficiency: an unusual cause of salt-wasting in males. (7750200)
1995
13
Asthma as the first presenting symptom of complex glycerol kinase deficiency. (1867094)
1991
14
Negative dystrophin staining in muscles of patients with complex glycerol kinase deficiency. (2166152)
1990
15
Myopathy in complex glycerol kinase deficiency patients is due to 3' deletions of the dystrophin gene. (2840818)
1988
16
Complex glycerol kinase deficiency: molecular-genetic, cytogenetic, and clinical studies of five Japanese patients. (2852474)
1988
17
Gonadotropin deficiency as a significant association of complex glycerol kinase deficiency: a case report with cytogenetic and molecular-genetic studies. (2849860)
1988
18
Inherited Xp21 deletion in a boy with complex glycerol kinase deficiency syndrome. (3004790)
1986
19
Complex glycerol kinase deficiency syndrome explained as X-chromosomal deletion. (2988829)
1985

Variations for Complex Glycerol Kinase Deficiency

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Expression for genes affiliated with Complex Glycerol Kinase Deficiency

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2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Complex Glycerol Kinase Deficiency

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Pathways for genes affiliated with Complex Glycerol Kinase Deficiency

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50PathCards, 30KEGG, 38NCBI BioSystems Database, 55Reactome
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Pathways related to Complex Glycerol Kinase Deficiency according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
fatty acid beta-oxidation VI (peroxisome)38
9.4GK, GK2
2
Show member pathways
9.4GK, GK2
3
Show member pathways
9.4GK, GK2
4
Show member pathways
9.4GK2, GK
5
Show member pathways
fatty acid beta-oxidation III (unsaturated, odd number)38
Fatty Acid Beta Oxidation38
9.4GK, GK2
6
Show member pathways
phosphatidylglycerol biosynthesis II (non-plastidic)38
CDP-diacylglycerol biosynthesis I38
Triacylglyceride Synthesis38
9.4GK, GK2
79.4GK, 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
1succinate459.1GK, DMD
2glycerol 3-phosphate45 2410.1GK, GK2
3glycerol45 24 119.4NR0B1, IL1RAPL1, GK, GK2, DMD

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 catabolic processGO:0195639.4GK, 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

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  • Antibodies
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Sources for Complex Glycerol Kinase Deficiency

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4CDC
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
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet