Glycerol Kinase Deficiency

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OMIM 57 307030 Disease Ontology 12 DOID:0060363 SNOMED-CT 68 297256008 Orphanet 59 ORPHA408 ORPHA284414 ORPHA284408 ORPHA284411 more MESH via Orphanet 45 C538138 UMLS via Orphanet 74 C0574108 C0268418

ICD10 via Orphanet 34 E74.8 MedGen 42 C0268418 MeSH 44 D002239 KEGG 37 H02013 SNOMED-CT via HPO 69 204878001 194021007 22006008 95515009 128602000 22066006 111563005 237785004 386584007 64859006 228156007 247578003 91138005 128613002 246545002 313307000 84757009 91175000 398151007 398152000 214264003 371632003 224958001 263934009 276617005 444896005 59576002 267258002 276610007 59455009 237630007 271327008 302866003 56051008 248200007 32003007 398206004 398302004 90145001 274521009 111266001 64217002 22640007 268029009 129565002 249710008 61960001 274523007 193225000 73297009 237836003 more UMLS 73 C0574108 C0268418

NIH Rare Diseases : ⁵³ The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 408Disease definitionIsolated 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 seizures

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. It 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)

UniProtKB/Swiss-Prot : ⁷⁵ 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 : ⁷⁶ Hyperglycerolemia, also known as Glycerol kinase deficiency (GKD), is a genetic disorder where the... more...

Clinical features from OMIM:

307030

#	Description	GenomeRNAi Source Accession	Score	Top Affiliating Genes
1	Reduced mammosphere formation	GR00396-S	8.92	CNR2 GK2 NR0B1 SREBF2

Search Clinical Trials , NIH Clinical Center for Glycerol Kinase Deficiency

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