GenTIGSA Gene Database on Rare Genetic Disorders
  Beta Version

Lists of Rare Genetic Disorders      

Primary Hyperoxaluria, Type II(D-glycerate dehydrogenase 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 GRHPR/9380 glyoxylate and hydroxypyruvate reductase 9p13.2 Chr9, NC_000009.12
(37422435..37439494)
17060 nt 12 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