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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

Disease Browser
Parent Node: Amino Acid Metabolism, Inborn Errors (D000592)
Parent Node: Malabsorption Syndromes (D008286)
Parent Node: Vitamin B Deficiency (D014804)
..Starting node ..Hyperhomocysteinemia (D020138)
Child Nodes:
........Gamma-cystathionase deficiency (C535408)
........Homocysteinemia (C566403)
........Homocystinuria (D006712) 5
Sister Nodes:
..Choline Deficiency (D002796)
..Folic Acid Deficiency (D005494) 1
..Hyperhomocysteinemia (D020138) 8
..Pellagra (D010383) 1
..Riboflavin Deficiency (D012257)
..Thiamine Deficiency (D013832) 2
..Vitamin B 12 Deficiency (D014806) 7
..Vitamin B 6 Deficiency (D026681)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	5384
Name:	Hyperhomocysteinemia
Definition:	Condition in which the plasma levels of homocysteine and related metabolites are elevated (>13.9 μmol/l). Hyperhomocysteinemia can be familial or acquired. Development of the acquired hyperhomocysteinemia is mostly associated with vitamins B and/or folate deficiency (e.g., PERNICIOUS ANEMIA, vitamin malabsorption). Familial hyperhomocysteinemia often results in a more severe elevation of total homocysteine and excretion into the urine, resulting in HOMOCYSTINURIA. Hyperhomocysteinemia is a risk factor for cardiovascular and neurodegenerative diseases, osteoporotic fractures and complications during pregnancy.
Alternative IDs:
ParentIDs:	MESH:D000592\|MESH:D008286\|MESH:D014804
TreeNumbers:	C16.320.565.100.480 \|C18.452.603.378 \|C18.452.648.100.480 \|C18.654.521.500.133.699.418
Synonyms:	Hyperhomocysteinemias
Slim Mappings:	Genetic disease (inborn)\|Metabolic disease\|Nutrition disorder
Reference:	MedGen: D020138 MeSH: D020138 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants