GenTIGSA Gene Database on Rare Genetic Disorders
  Beta Version

Lists of Rare Genetic Disorders  

3-hydroxy-3-methylglutaryl-CoA Synthase Deficiency(HMG-CoA synthase deficiency)      Explore Disorder's Alias
An Autosomal recessive mode(s) within the Metabolic disorders category
Reported Pathogenic variants
Candidate Gene Information
S.No. Name/GeneID Description Cytogentic Band Gene Location on genomic DNA Gene Length Exons Details Gene Cross-References
1 HMGCS2/3158 3-hydroxy-3-methylglutaryl-CoA synthase 2 1p12 Chr1, NC_000001.11
(119747996..119768932, complement)
20937 nt 10 More... OMIM gene
gnomAD browser
EnsEMBL
GeneCards
ClinGen gene

Variant Information
Disorder Cross-References:      Orphanet          OMIM          GARD          GTR          MedGen          MalaCards          EMBL-EBI OLS    Monarch Initiative          NORD     

Patient care services
Clinical Symptoms & Disabilities

Prevalence
Under development