GenTIGSA Gene Database on Rare Genetic Disorders
  Beta Version

Lists of Rare Genetic Disorders  

Pseudoxanthoma Elasticum(Gronblad Strandberg syndrome)      Explore Disorder's Alias
An Autosomal recessive mode(s) within the Skin 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 ABCC6/368 ATP binding cassette subfamily C member 6 16p13.11 Chr16, NC_000016.10
(16149565..16223494, complement)
73930 nt 31 More... OMIM gene
gnomAD browser
EnsEMBL
GeneCards
ClinGen gene

Variant Information
Disorder Cross-References:      GARD          GTR          MalaCards          NORD     

Patient care services
Clinical Symptoms & Disabilities

Prevalence
Under development