GenTIGSA Gene Database on Rare Genetic Disorders

Lists of Rare Genetic Disorders  

Isovaleryl-CoA Dehydrogenase Deficiency(Isovaleric acidemia)      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 IVD/3712 isovaleryl-CoA dehydrogenase 15q15.1 Chr15, NC_000015.10
(40405795..40435947)
30153 nt 15 More... OMIM gene
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EnsEMBL
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ClinGen gene

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

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