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| Entry | Name | Description | Category | Pathway | Gene |
|---|---|---|---|---|---|
| H02295 | Adermatoglyphia | ... rare autosomal dominant condition characterized by lack of palmoplantar epidermal ridges. Mutations in SMARCAD1 was identified in patients. It seems that haploinsufficiency for the skin-specific isoform of ... | Congenital malformation | SMARCAD1 [HSA:56916] [KO:K14439] | |
| H02296 |
Basan syndrome Ectodermal dysplasia absent dermatoglyphics |
... fingerprints. Other phenotypes include contractures of digits, hypohidrosis, palmoplantar keratoderma, and nail dystrophy. A mutation in the SMARCAD1 gene was recently reported to cause Basan syndrome. | Congenital malformation | SMARCAD1 [HSA:56916] [KO:K14439] |
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