Disorder "Autosomal dominant keratitis-ichthyosis-deafness syndrome"
Found 1 record
Disorder information
Disorder name:
Autosomal dominant keratitis-ichthyosis-deafness syndrome
Disoder ID:
OMIM entry:
Synonyms:
autosomal dominant KID syndrome
Definition:
An autosomal dominant disease characterized by congenital deafness, keratopachydermia and constrictions of fingers and toes that has material_basis_in heterozygous mutation in the gjb2 gene on chromosome 13q.
Modifier statisitcs
Record:
1
Gene:
1
Variant:
1
Reference:
1
Effect type:
Expressivity(1)
Modifier effect:
Risk factor(1)
| Modifier gene | Variant | Effect type | Modifier effect | Evidence | Effect | PubMed ID |
|---|---|---|---|---|---|---|
| KRT17 | KRT17:c.177C-A(p.S59R) | Expressivity | Risk factor | Pedigree analysis | Based on these findings, it is conceivable that the p.Ser59Arg variant in K17 has a modifying effect on the pathogenic GJB2 mutation p.Asp50Asn and may contribute the proband’s phenotype.more | more |
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