Congenital malformations, deformations and chromosomal abnormalities
Other congenital malformations
Autosomal dominant
6p24.3
DCWHKTA is an autosomal dominant heart disorder with dermatological and dental anomalies. Apart from cardiomyopathy, affected individuals also exhibit woolly textured hair and thick, scaly skin on their palms and soles. The condition is caused by mutations in the DSP gene, which encodes a protein involved in the organisation of desmosomes.
| Subject ID | Country | Sex | Family History | Parental Consanguinity | HPO Terms | Variant | Zygosity | Mode of Inheritance | Reference | Remarks |
|---|---|---|---|---|---|---|---|---|---|---|
| 615821.1.1 | Lebanon | Male | No | Palmoplantar keratoderma ; Woolly hair... Palmoplantar keratoderma ; Woolly hair ; Tooth agenesis ; Leukonychia; Psoriasiform dermatitis  | NM_004415.3:c.1865T>C | Heterozygous | Autosomal, Dominant | Bitar et al, 2016; Tayeh et al, 2019 |