GenTIGSA Gene Database on Rare Genetic Disorders
  Beta Version

Lists of Rare Genetic Disorders  

Acroerythrokeratoderma(Mal de Meleda)      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 SLURP1/57152 secreted LY6/PLAUR domain containing 1 8q24.3 Chr8, NC_000008.11
(142740949..142742406, complement)
1458 nt 3 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