MSeqDR Mitochondrial disease browser phenotype pathogenic gene and mutation portal

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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

*:HP: HPO terms, ND: NAMDC terms.
Most Studied CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, NARP, SANDO

Disease Browser
Parent Node: inborn glycerol kinase deficiency (MONDO:0010613)
Parent Node: syndromic neurometabolic disease with X-linked intellectual disability (MONDO:0015920)
..Starting node ..glycerol kinase deficiency, infantile form ()
Child Nodes:
Sister Nodes:
..Brunner syndrome ()
..creatine transporter deficiency ()
..Danon disease ()
..glycerol kinase deficiency, infantile form ()
..glycogen storage disease due to phosphoglycerate kinase 1 deficiency ()
..HSD10 disease () L: 00526;
..hyperekplexia-epilepsy syndrome ()
..hypoxanthine-guanine phosphoribosyltransferase deficiency ()
..Menkes disease ()
..mitochondrial complex I deficiency () L: 00011;
..mucopolysaccharidosis type 2 ()
..oculocerebrorenal syndrome ()
..ornithine carbamoyltransferase deficiency ()
..phosphoribosylpyrophosphate synthetase superactivity ()
..pyruvate dehydrogenase deficiency ()
..X-linked cerebral adrenoleukodystrophy ()
..X-linked congenital disorder of glycosylation with intellectual disability as a major feature ()
..X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	17294
Name:	glycerol kinase deficiency, infantile form
Definition:	Infantile glycerol kinase deficiency (GKD) is a severe form of GKD (see this term) characterized clinically by poor feeding, failure to thrive, salt-wasting dehydration, vomiting, Addisonian pigmentation, hypotonia, and disorders of consciousness. Some patients have complex GKD associated with adrenal hypoplasia congenita and/or Duchenne muscular dystrophy (DMD) (see these terms) with manifestations including intellectual deficit, dysmorphic facial features, abnormal external genitalia, strabismus, seizures, and progressive lethargy.
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Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
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