Version May 2024
| Disease | Mode of inheritance | Gene(s) |
| X-linked ichthyosis syndromes | ||
| Recessive X-linked ichthyosis* | ||
| Syndromic presentation | X-linked recessive | STS (and others¶) |
| Ichthyosis follicularis, atrichia, photophobia (IFAP) syndrome | X-linked recessive | MBTPS2 |
| Conradi-Hünermann-Happle syndrome (chondrodysplasia punctata 2, X-linked; CDPX2) | X-linked dominant | EBP |
| Autosomal ichthyosis syndromes (with) | ||
| Prominent hair abnormalities | ||
| Netherton syndrome | Autosomal recessive | SPINK5 |
| Ichthyosis hypotrichosis syndromeΔ | Autosomal recessive | ST14 |
| Ichthyosis, hypotrichosis, sclerosing cholangitis syndrome◊ | Autosomal recessive | CLDN1 |
| Trichothiodystrophy | Autosomal recessive | ERCC2/XPD ERCC3/XPB GTF2H5/TTDA |
| Trichothiodystrophy (not associated with congenital ichthyosis)* | Autosomal recessive | C7Orf11/TTDN1 |
| Prominent neurologic signs | ||
| Sjögren-Larsson syndrome | Autosomal recessive | ALDH3A2 |
| Refsum syndrome (hereditary motor and sensory neuropathy IV; HMSN4)* | Autosomal recessive | PHYH/PEX7 |
| Mental retardation, enteropathy, deafness, neuropathy, ichthyosis, keratoderma (MEDNIK) syndrome | Autosomal recessive | AP1S1 |
| Fatal diseases course | ||
| Gaucher syndrome type 2 | Autosomal recessive | GBA |
| Multiple sulfatase deficiency | Autosomal recessive | SUMF1 |
| Cerebral dysgenesis, neuropathy, ichthyosis, palmoplantar keratoderma (CEDNIK) syndrome | Autosomal recessive | SNAP29 |
| Arthrogryposis, renal dysfunction, cholestasis (ARC) syndrome | Autosomal recessive | VPS33B |
| Other associated signs | ||
| Keratitis-ichthyosis-deafness (KID) syndrome | Autosomal dominant | GJB2 (GJB6) |
| Neutral lipid storage disease with ichthyosis | Autosomal recessive | ABHD5 |
| Ichthyosis prematurity syndrome | Autosomal recessive | SLC27A4 |
* Often delayed onset (in recessive X-linked ichthyosis, mild scaling and erythroderma may be present already at birth).
¶ In context of contiguous gene syndrome.
Δ Clinical variant: congenital ichthyosis, follicular atrophoderma, hypotrichosis, and hypohidrosis syndrome.
◊ Also known as neonatal ichthyosis sclerosing cholangitis syndrome.آیا می خواهید مدیلیب را به صفحه اصلی خود اضافه کنید؟
