GenTIGSA Gene Database on Rare Genetic Disorders

Lists of Rare Genetic Disorders  

Hypohidrotic X-linked Ectodermal Dysplasia(Ectodermal dysplasia 1, hypohidrotic/hair/tooth type, x-linked)      Explore Disorder's Alias
An X-linked 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 EDA/1896 ectodysplasin A Xq13.1 ChrX, NC_000023.11
(69616113..70039472)
423360 nt 13 More... OMIM gene
gnomAD browser
EnsEMBL
GeneCards
ClinGen gene

Variant Information             Highlighted rows indicate variants are reported from India
Disorder Cross-References:      Orphanet          OMIM          GARD          GTR          MedGen          MalaCards          EMBL-EBI OLS    Monarch Initiative          NORD     

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Clinical Symptoms & Disabilities