Congenital ichthyosis is a skin condition resulting in dry scaling skin over most of the body. ARCI13 is caused by mutations in the SDR9C7 gene, which encodes a protein believed to be involved in vitamin A metabolism.
Congenital malformations, deformations and chromosomal abnormalities
Other congenital malformations
Autosomal recessive
12q13.3
Congenital ichthyosis is a skin condition resulting in dry scaling skin over most of the body. ARCI13 is caused by mutations in the SDR9C7 gene, which encodes a protein believed to be involved in vitamin A metabolism.
| Subject ID | Country | Sex | Family History | Parental Consanguinity | HPO Terms | Variant | Zygosity | Mode of Inheritance | Reference | Remarks |
|---|---|---|---|---|---|---|---|---|---|---|
| 617574.1.1 | Lebanon | Male | Yes | Hyperkeratosis ; Palmoplantar keratode... Hyperkeratosis ; Palmoplantar keratoderma ; Recurrent cutaneous fungal infections ; Onychomycosis ; Dry skin ; Scaling skin  | NM_148897.2:c.599T>C | Homozygous | Autosomal, Recessive | Shigehara et al, 2016 | ||
| 617574.1.2 | Lebanon | Female | Yes | Yes | Hyperkeratosis ; Palmoplantar keratoder... Hyperkeratosis ; Palmoplantar keratoderma ; Recurrent cutaneous fungal infections; Onychomycosis ; Dry skin ; Scaling skin | NM_148897.2:c.599T>C | Homozygous | Autosomal, Recessive | Shigehara et al, 2016 | Daughter of 617574.1... |
| 617574.1.3 | Lebanon | Female | Yes | Yes | Hyperkeratosis ; Palmoplantar keratoder... Hyperkeratosis ; Palmoplantar keratoderma ; Recurrent cutaneous fungal infections; Onychomycosis ; Dry skin ; Scaling skin | NM_148897.2:c.599T>C | Homozygous | Autosomal, Recessive | Shigehara et al, 2016 | Daughter of 617574.1... |
| 617574.2.1 | Lebanon | Female | No | Yes | Hyperkeratosis ; Palmoplantar keratoder... Hyperkeratosis ; Palmoplantar keratoderma ; Recurrent cutaneous fungal infections; Onychomycosis ; Dry skin ; Scaling skin | NM_148897.2:c.214C>T | Homozygous | Autosomal, Recessive | Shigehara et al, 2016 | |
| 617574.3.1 | Lebanon | Male | Yes | Yes | Hyperkeratosis ; Palmoplantar keratoder... Hyperkeratosis ; Palmoplantar keratoderma ; Recurrent cutaneous fungal infections ; Onychomycosis ; Dry skin ; Scaling skin | NM_148897.2:c.599T>C | Homozygous | Autosomal, Recessive | Shigehara et al, 2016 | |
| 617574.3.2 | Lebanon | Male | Yes | Yes | Hyperkeratosis ; Palmoplantar keratode... Hyperkeratosis ; Palmoplantar keratoderma ; Recurrent cutaneous fungal infections ; Onychomycosis ; Dry skin ; Scaling skin | NM_148897.2:c.599T>C | Homozygous | Autosomal, Recessive | Shigehara et al, 2016 | Brother of 617574.3.... |
| 617574.3.3 | Lebanon | Male | Yes | Yes | Hyperkeratosis ; Palmoplantar keratoder... Hyperkeratosis ; Palmoplantar keratoderma ; Recurrent cutaneous fungal infections ; Onychomycosis ; Dry skin ; Scaling skin | NM_148897.2:c.599T>C | Homozygous | Autosomal, Recessive | Shigehara et al, 2016 | Father of 617574.3.1 |
| 617574.3.4 | Lebanon | Male | Yes | Yes | Hyperkeratosis ; Palmoplantar keratoder... Hyperkeratosis ; Palmoplantar keratoderma ; Recurrent cutaneous fungal infections ; Onychomycosis ; Dry skin ; Scaling skin | NM_148897.2:c.599T>C | Homozygous | Autosomal, Recessive | Shigehara et al, 2016 | Paternal uncle of 61... |
| 617574.3.5 | Lebanon | Male | Yes | Yes | Hyperkeratosis ; Palmoplantar keratoder... Hyperkeratosis ; Palmoplantar keratoderma ; Recurrent cutaneous fungal infections ; Onychomycosis ; Dry skin ; Scaling skin | NM_148897.2:c.599T>C | Homozygous | Autosomal, Recessive | Shigehara et al, 2016 | Paternal uncle of 61... |
| 617574.3.6 | Lebanon | Female | Yes | Yes | Hyperkeratosis ; Palmoplantar keratoder... Hyperkeratosis ; Palmoplantar keratoderma ; Recurrent cutaneous fungal infections ; Onychomycosis ; Dry skin ; Scaling skin | NM_148897.2:c.599T>C | Homozygous | Autosomal, Recessive | Shigehara et al, 2016 | Maternal aunt of 617... |
| 617574.3.7 | Lebanon | Female | Yes | Yes | Hyperkeratosis ; Palmoplantar keratode... Hyperkeratosis ; Palmoplantar keratoderma ; Recurrent cutaneous fungal infections ; Onychomycosis ; Dry skin ; Scaling skin | NM_148897.2:c.599T>C | Homozygous | Autosomal, Recessive | Shigehara et al, 2016 | Maternal aunt of 617... |
| 617574.3.8 | Lebanon | Male | Yes | Yes | Hyperkeratosis ; Palmoplantar keratode... Hyperkeratosis ; Palmoplantar keratoderma ; Recurrent cutaneous fungal infections ; Onychomycosis ; Dry skin ; Scaling skin | NM_148897.2:c.599T>C | Homozygous | Autosomal, Recessive | Shigehara et al, 2016 | Maternal uncle of 61... |