GenTIGSA Gene Database on Rare Genetic Disorders

Lists of Rare Genetic Disorders  

Uncombable Hair Syndrome(Pili trianguli et canaliculi)      Explore Disorder's Alias
An Autosomal recessive mode(s) within the Hair 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 TCHH/7062 trichohyalin 1q21.3 Chr1, NC_000001.11
(152106317..152115444, complement)
9128 nt 3 More... OMIM gene
gnomAD browser
EnsEMBL
GeneCards
ClinGen gene

2 TGM3/7053 transglutaminase 3 20p13 Chr20, NC_000020.11
(2296001..2341079)
45079 nt 13 More... OMIM gene
gnomAD browser
EnsEMBL
GeneCards
ClinGen gene

3 PADI3/51702 peptidyl arginine deiminase 3 1p36.13 Chr1, NC_000001.11
(17249098..17284233)
35136 nt 18 More... OMIM gene
gnomAD browser
EnsEMBL
GeneCards
ClinGen gene

Variant Information       
Disorder Cross-References:      GARD          GTR          MalaCards          NORD     

Patient care services
Clinical Symptoms & Disabilities