GKD
MCID: GLY014
MIFTS: 48
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Glycerol Kinase Deficiency (GKD)
Categories:
Blood diseases, Endocrine diseases, Genetic diseases, Metabolic diseases, Nephrological diseases, Rare diseases
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MalaCards integrated aliases for Glycerol Kinase Deficiency:
Characteristics:Orphanet epidemiological data:58
isolated glycerol kinase deficiency
Inheritance: X-linked recessive; Age of onset: All ages; OMIM®:57 (Updated 05-Mar-2021)
Inheritance:
x-linked recessive
Miscellaneous:
variable clinical phenotype infantile form (gene deletion 'complex' with glycerol kinase deficiency and/or duchenne muscular dystrophy and/or congenital adrenal hypoplasia) juvenile and adult forms are isolated glycerol kinase deficiency adult form is asymptomatic HPO:31Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Metabolic diseases Anatomical: Nephrological diseases Endocrine diseases Blood diseases
ICD10:
33
Orphanet: 58
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GARD :
20
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 408DefinitionIsolated glycerol kinase deficiency (GKD) is a very rare X-linked disorder of glycerol metabolism characterized biochemically by elevated plasma and urine glycerol levels, and clinically by variable neurometabolic manifestations, depending on the age of onset, and varying from a life-threatening childhood metabolic crisis to an asymptomatic adult form (infantile GKD, juvenile GKD, and adult GKD (see these terms)).Visit the Orphanet disease page for more resources.
MalaCards based summary : Glycerol Kinase Deficiency, also known as hyperglycerolemia, is related to chromosome xp21 deletion syndrome and adrenal hypoplasia, congenital, and has symptoms including seizures An important gene associated with Glycerol Kinase Deficiency is GK (Glycerol Kinase), and among its related pathways/superpathways are Glycerolipid metabolism and PPAR signaling pathway. Affiliated tissues include eye, liver and skeletal muscle, and related phenotypes are intellectual disability and neurological speech impairment Disease Ontology : 12 An inherited metabolic disorder characterized by wide range of phenotypic variability; patients can have severe metabolic and CNS abnormalities, while others possess hyperglycerolemia and glyceroluria with no other apparent phenotype and that has material basis in mutation in the GK gene on chromosome Xp21. OMIM® : 57 Francke et al. (1987) noted that there are 3 clinically distinct forms of glycerol kinase deficiency: infantile, juvenile, and adult. The infantile form is associated with severe developmental delay, and those with the adult form have no symptoms and are often detected fortuitously. The infantile form of GK deficiency, or the 'GK complex,' results from the Xp21 contiguous gene deletion syndrome (300679) with congenital adrenal hypoplasia (300200) and/or Duchenne muscular dystrophy (DMD; 310200), whereas the juvenile and adult forms have isolated GK deficiency (Walker et al., 1996). (307030) (Updated 05-Mar-2021) KEGG : 36 Glycerol kinase deficiency is an X-linked recessive disorder. There are two types, an isolated form and a complex form (chromosome Xp21 deletion syndrome). Isolated glycerol kinase deficiency results from mutations in GK gene. It has an inconstant phenotype, ranging from asymptomatic hyperglycerolemia to a severe metabolic disorder with growth and psychomotor retardation. UniProtKB/Swiss-Prot : 73 Glycerol kinase deficiency: A metabolic disorder manifesting as 3 clinically distinct forms: infantile, juvenile, and adult. The infantile form is the most severe and is associated with severe developmental delay and adrenal insufficiency. Patients with the adult form have no symptoms and are often detected fortuitously. GKD results in hyperglycerolemia, a condition characterized by the accumulation of glycerol in the blood and urine. Wikipedia : 74 Hyperglycerolemia, also known as Glycerol kinase deficiency (GKD), is a genetic disorder where the... more... |
Human phenotypes related to Glycerol Kinase Deficiency:58 31 (show all 39)
Symptoms via clinical synopsis from OMIM®:57 (Updated 05-Mar-2021)Clinical features from OMIM®:307030 (Updated 05-Mar-2021)UMLS symptoms related to Glycerol Kinase Deficiency:seizures |
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MalaCards organs/tissues related to Glycerol Kinase Deficiency:40
Eye,
Liver,
Skeletal Muscle,
Thyroid,
Skin,
Pituitary
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Articles related to Glycerol Kinase Deficiency:(show top 50) (show all 165)
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ClinVar genetic disease variations for Glycerol Kinase Deficiency:6
UniProtKB/Swiss-Prot genetic disease variations for Glycerol Kinase Deficiency:73
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Search
GEO
for disease gene expression data for Glycerol Kinase Deficiency.
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Pathways related to Glycerol Kinase Deficiency according to KEGG:36
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Cellular components related to Glycerol Kinase Deficiency according to GeneCards Suite gene sharing:
Biological processes related to Glycerol Kinase Deficiency according to GeneCards Suite gene sharing:(show all 13)
Molecular functions related to Glycerol Kinase Deficiency according to GeneCards Suite gene sharing:
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