GNMT DEFICIENCY
MCID: GLY015
MIFTS: 43
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Glycine N-Methyltransferase Deficiency (GNMT DEFICIENCY)
Categories:
Blood diseases, Genetic diseases, Liver diseases, Metabolic diseases, Rare diseases
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MalaCards integrated aliases for Glycine N-Methyltransferase Deficiency:
Characteristics:HPO:32Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Metabolic diseases Anatomical: Liver diseases Blood diseases
ICD10:
33
34
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NIH Rare Diseases
:
53
Glycine N-methyltransferase deficiency (GNMT deficiency) is a very rare condition characterized by persistent and isolated excess levels of methionine in the blood (hypermethioninemia). The only clinical abnormalities are mild increase of the liver size (hepatomegaly) and chronic elevation of the transaminase levels in the blood without liver disease. Methionine may also be increased in urine. However, because elevated levels of methionine in the blood itself is a risk factor for development of neurological signs and symptoms, people with GNMT deficiency can have neurological problems when methionine levels are greater than 800 μmol/L. GNMT deficiency is caused by mutations in the GNMT gene. Inheritance is autosomal recessive. Treatment is not needed in most cases.
MalaCards based summary : Glycine N-Methyltransferase Deficiency, also known as gnmt deficiency, is related to methionine adenosyltransferase i/iii deficiency and hypermethioninemia. An important gene associated with Glycine N-Methyltransferase Deficiency is GNMT (Glycine N-Methyltransferase), and among its related pathways/superpathways are Metabolism and Selenium Micronutrient Network. Affiliated tissues include liver, prostate and nk cells, and related phenotypes are hepatomegaly and hypermethioninemia Disease Ontology : 12 A hypermethioninemia characterized by autosomal recessive inheritance of persistent isolated hypermethioninemia without cystathionine beta-synthase deficiency, tyrosinemia type I, or liver disease that has material basis in homozygous or compound heterozygous mutation in the GNMT gene on chromosome 6p21. UniProtKB/Swiss-Prot : 75 Glycine N-methyltransferase deficiency: The only clinical abnormalities in patients with this deficiency are mild hepatomegaly and chronic elevation of serum transaminases. Wikipedia : 76 Hypermethioninemia is an excess of the amino acid methionine, in the blood. This condition can occur... more...
Description from OMIM:
606664
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Symptoms via clinical synopsis from OMIM:57Clinical features from OMIM:606664Human phenotypes related to Glycine N-Methyltransferase Deficiency:32
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MalaCards organs/tissues related to Glycine N-Methyltransferase Deficiency:41
Liver,
Prostate,
Nk Cells
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Articles related to Glycine N-Methyltransferase Deficiency:
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UniProtKB/Swiss-Prot genetic disease variations for Glycine N-Methyltransferase Deficiency:75
ClinVar genetic disease variations for Glycine N-Methyltransferase Deficiency:6
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Search
GEO
for disease gene expression data for Glycine N-Methyltransferase Deficiency.
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Pathways related to Glycine N-Methyltransferase Deficiency according to GeneCards Suite gene sharing:
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Biological processes related to Glycine N-Methyltransferase Deficiency according to GeneCards Suite gene sharing:(show all 14)
Molecular functions related to Glycine N-Methyltransferase Deficiency according to GeneCards Suite gene sharing:
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