1-92 (Predicted disordered autoinhibitory region)

[MIM: 136000]: Adermatoglyphia (ADERM)

An autosomal dominant condition characterized by the lack of epidermal ridges on the palms and soles, which results in the absence of fingerprints, and is associated with a reduced number of sweat gland openings and reduced sweating of palms and soles. {ECO:0000269|PubMed:21820097, ECO:0000269|PubMed:24909267}. Note=The disease is caused by variants affecting the gene represented in this entry. Splice site mutations causing aberrant splicing of skin-specific isoform 3 are likely to exert a loss-of-function effect and are involved in ADERM. {ECO:0000269|PubMed:21820097, ECO:0000269|PubMed:24909267}.

[MIM: 129200]: Basan syndrome (BSNS)

An autosomal dominant form of adermatoglyphia associated with congenital facial milia, acral blistering, digital contractures, and nail abnormalities. Adermatoglyphia is defined by the lack of epidermal ridges on the palms and soles, which results in the absence of fingerprints. {ECO:0000269|PubMed:24664640, ECO:0000269|PubMed:26932190}. Note=The disease is caused by variants affecting the gene represented in this entry. Splice site mutations causing aberrant splicing of skin-specific isoform 3 are likely to exert a loss-of-function effect and are involved in BSNS. {ECO:0000269|PubMed:24664640, ECO:0000269|PubMed:26932190}.

[MIM: 181600]: Huriez syndrome (HRZ)

An autosomal dominant syndrome characterized by atrophic fibrosis of the skin of the limbs, nail hypoplasia, and palmoplantar keratoderma. Malignant degeneration of affected skin resulting in aggressive squamous cell carcinoma and early metastasis formation is a distinctive feature of the syndrome. {ECO:0000269|PubMed:29409814}. Note=The disease is caused by variants affecting the gene represented in this entry.

Without disease ID

• An autosomal dominant condition characterized by the lack of epidermal ridges on the palms and soles, which results in the absence of fingerprints, and is associated with a reduced number of sweat gland openings and reduced sweating of palms and soles. {ECO:0000269|PubMed:21820097, ECO:0000269|PubMed:24909267}. Note=The disease is caused by variants affecting the gene represented in this entry. Splice site mutations causing aberrant splicing of skin-specific isoform 3 are likely to exert a loss-of-function effect and are involved in ADERM. {ECO:0000269|PubMed:21820097, ECO:0000269|PubMed:24909267}.
• An autosomal dominant form of adermatoglyphia associated with congenital facial milia, acral blistering, digital contractures, and nail abnormalities. Adermatoglyphia is defined by the lack of epidermal ridges on the palms and soles, which results in the absence of fingerprints. {ECO:0000269|PubMed:24664640, ECO:0000269|PubMed:26932190}. Note=The disease is caused by variants affecting the gene represented in this entry. Splice site mutations causing aberrant splicing of skin-specific isoform 3 are likely to exert a loss-of-function effect and are involved in BSNS. {ECO:0000269|PubMed:24664640, ECO:0000269|PubMed:26932190}.
• An autosomal dominant syndrome characterized by atrophic fibrosis of the skin of the limbs, nail hypoplasia, and palmoplantar keratoderma. Malignant degeneration of affected skin resulting in aggressive squamous cell carcinoma and early metastasis formation is a distinctive feature of the syndrome. {ECO:0000269|PubMed:29409814}. Note=The disease is caused by variants affecting the gene represented in this entry.