Disorder "Pachyonychia Congenita"
Found 2 records
Disorder information
Disorder name:
Pachyonychia Congenita
Disoder ID:
OMIM entry:
Synonyms:
Jackson-Lawler Type Pachyonychia Congenita,Jadassohn-Lewandowsky Syndrome,PACHYONYCHIA CONGENITA, JADASSOHN-LEWANDOWSKY TYPE,Pachyonychia Congenita Type 1
Definition:
An autosomal dominant disease that is characterized by hypertrophic nails and hyperkeratosis of the hands and feet and has_material_basis in gene mutations that result in changes in keratin.
Modifier statisitcs
Record:
2
Gene:
2
Variant:
2
Reference:
1
Effect type:
Expressivity(2)
Modifier effect:
Altered severity(2)
| Modifier gene | Variant | Effect type | Modifier effect | Evidence | Effect | PubMed ID |
|---|---|---|---|---|---|---|
| KRT16 | KRT16:c.395T>C(p.Leu132Pro) | Expressivity | Altered severity | Pedigree analysis | Coinheritance of mutations in KRT16 and FLG may aggravate the PC phenotype and that FLG could serve as a genetic modifier in PC.more | more |
| FLG | FLG:c.7339C>T(p.Arg2447*) | Expressivity | Altered severity | Pedigree analysis | Coinheritance of mutations in KRT16 and FLG may aggravate the PC phenotype and that FLG could serve as a genetic modifier in PC.more | more |
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