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D-GA
MCID: DGL002
MIFTS: 33
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D-Glyceric Aciduria (D-GA)
Categories:
Genetic diseases, Mental diseases, Metabolic diseases, Neuronal diseases, Rare diseases
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MalaCards integrated aliases for D-Glyceric Aciduria:
Characteristics:Orphanet epidemiological data:58
d-glyceric aciduria
Inheritance: Autosomal recessive; Age of onset: All ages; OMIM:56
Inheritance:
autosomal recessive
Miscellaneous:
highly variable phenotype onset at birth or in infancy some patients have no or mild manifestations and normal development HPO:31Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Metabolic diseases Anatomical: Neuronal diseases Mental diseases
ICD10:
33
Orphanet: 58
Inborn errors of metabolism External Ids:
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NIH Rare Diseases :
52
The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 941 Definition D-glyceric aciduria is a metabolic disorder characterized by D-glyceric acid excretion. It has been described in several patients. Clinical findings include progressive neurological impairment, hypotonia , seizures , failure to thrive and metabolic acidosis. Some patients had hyperglycinemia secondary to the organic acidemia. However, some of the reported patients were asymptomatic. D-glyceric aciduria is caused by D-glycerate kinase deficiency. The GLYCTK gene has been mapped to 3p21. Visit the Orphanet disease page for more resources.
MalaCards based summary : D-Glyceric Aciduria, also known as d-glyceric acidemia, is related to microcephaly and glycine encephalopathy. An important gene associated with D-Glyceric Aciduria is GLYCTK (Glycerate Kinase). Affiliated tissues include liver, and related phenotypes are sensorineural hearing impairment and intellectual disability Disease Ontology : 12 An inherited metabolic disorder characterized by impaired serine and fructose metabolism resulting in elevated excretion of D-glyceric acid that has material basis in homozygous or compound heterozygous mutation in GLYCTK on chromosome 3p21.2. OMIM : 56 D-glyceric aciduria is a rare autosomal recessive metabolic disorder with a highly variable phenotype. Some patients have an encephalopathic presentation, with severe mental retardation, seizures, microcephaly, and sometimes early death, whereas others have a mild phenotype with only mild speech delay or even normal development (summary by Sass et al., 2010). (220120) UniProtKB/Swiss-Prot : 73 D-glyceric aciduria: A rare metabolic disease characterized by chronic metabolic acidosis and a highly variable clinical phenotype. Clinical features range from an encephalopathic presentation with seizures, microcephaly, severe mental retardation and early death, to milder manifestations with only speech delay or even normal development. Wikipedia : 74 D-Glyceric Acidemia (a.k.a. D-Glyceric Aciduria) is an inherited disease, in the category of inborn... more... |
Diseases related to D-Glyceric Aciduria via text searches within MalaCards or GeneCards Suite gene sharing:(show all 16)
Graphical network of the top 20 diseases related to D-Glyceric Aciduria:
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Human phenotypes related to D-Glyceric Aciduria:31 (show all 20)
Symptoms via clinical synopsis from OMIM:56Clinical features from OMIM:220120 |
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Cochrane evidence based reviews: d-glycericacidemia |
MalaCards organs/tissues related to D-Glyceric Aciduria:40
Liver
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Articles related to D-Glyceric Aciduria:(show all 30)
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Genes related to D-Glyceric Aciduria (1 elite genes): - Elite gene
- Cancer Census gene in COSMIC
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ClinVar genetic disease variations for D-Glyceric Aciduria:6
UniProtKB/Swiss-Prot genetic disease variations for D-Glyceric Aciduria:73
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Search
GEO
for disease gene expression data for D-Glyceric Aciduria.
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