MCID: CMP037
MIFTS: 24

Complex Glycerol Kinase Deficiency malady

Genetic diseases (common) category

Summaries for Complex Glycerol Kinase Deficiency

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34MalaCards
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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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21GeneTests
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Classifications:

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


Aliases & Descriptions:

complex glycerol kinase deficiency 21


Related Diseases for Complex Glycerol Kinase Deficiency

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18GeneCards, 19GeneDecks
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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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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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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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21GeneTests
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Genetic tests related to Complex Glycerol Kinase Deficiency:

id Genetic test Affiliating Genes
1 Complex Glycerol Kinase Deficiency21 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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38MGI
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MGI Mouse Phenotypes related to Complex Glycerol Kinase Deficiency:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053798.7NR0B1, GK, DMD

Publications for Complex Glycerol Kinase Deficiency

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53PubMed
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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, 16Gene 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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51PathCards, 31KEGG, 39NCBI BioSystems Database, 56Reactome
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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)39
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)39
Fatty Acid Beta Oxidation39
9.4GK, GK2
6
Show member pathways
phosphatidylglycerol biosynthesis II (non-plastidic)39
CDP-diacylglycerol biosynthesis I39
Triacylglyceride Synthesis39
9.4GK, GK2
79.4GK, GK2

Compounds for genes affiliated with Complex Glycerol Kinase Deficiency

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46Novoseek, 25HMDB, 12DrugBank
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Compounds related to Complex Glycerol Kinase Deficiency according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1succinate469.1GK, DMD
2glycerol 3-phosphate46 2510.1GK, GK2
3glycerol46 25 129.4NR0B1, IL1RAPL1, GK, GK2, DMD

GO Terms for genes affiliated with Complex Glycerol Kinase Deficiency

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17Gene 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
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet