Disorder "Gorlin syndrome"
Found 7 records
Disorder information
Disorder name:
Gorlin syndrome
Disoder ID:
OMIM entry:
Synonyms:
basal cell nevus syndrome, Gorlin syndrome, NBCCS, nevoid basal cell carcinoma syndrome, nevoid basal cell cancer syndrome, multiple basal cell carcinomas, Gorlin-Goltz syndrome, Basal cell nevus syndrome, Nevoid basal cell carcinoma syndrome
Definition:
A rare hereditary disorder due to autosomal dominant transmission with hamartosis characterized by multiple early-onset basal cell carcinoma (BCC), multiple jaw keratocysts and skeletal abnormalities.
Modifier statisitcs
Record:
7
Gene:
4
Variant:
7
Reference:
1
Effect type:
Expressivity(7)
Modifier effect:
Altered activation level of the Hh signals(7)
| Modifier gene | Variant | Effect type | Modifier effect | Evidence | Effect | PubMed ID |
|---|---|---|---|---|---|---|
| WNT9B | WNT9B:rs149931425 | Expressivity | Altered activation level of the Hh signals | Gene activity study | Multi-layered mutations in Hh pathway may change the activation level of the Hh signals, which may explain the wide phenotypic variability of Gorlin syndrome.more | more |
| PTCH2 | PTCH2:rs745322399 | Expressivity | Altered activation level of the Hh signals | Gene activity study | Multi-layered mutations in Hh pathway may change the activation level of the Hh signals, which may explain the wide phenotypic variability of Gorlin syndrome.more | more |
| PTCH2:rs760548568 | Expressivity | Altered activation level of the Hh signals | Gene activity study | Multi-layered mutations in Hh pathway may change the activation level of the Hh signals, which may explain the wide phenotypic variability of Gorlin syndrome.more | more | |
| PTCH2:rs771760736 | Expressivity | Altered activation level of the Hh signals | Gene activity study | Multi-layered mutations in Hh pathway may change the activation level of the Hh signals, which may explain the wide phenotypic variability of Gorlin syndrome.more | more | |
| FAT4 | FAT4:rs76491994 | Expressivity | Altered activation level of the Hh signals | Gene activity study | Multi-layered mutations in Hh pathway may change the activation level of the Hh signals, which may explain the wide phenotypic variability of Gorlin syndrome.more | more |
| BOC | BOC:rs3814400 | Expressivity | Altered activation level of the Hh signals | Gene activity study | Multi-layered mutations in Hh pathway may change the activation level of the Hh signals, which may explain the wide phenotypic variability of Gorlin syndrome.more | more |
| BOC:rs3814404 | Expressivity | Altered activation level of the Hh signals | Gene activity study | Multi-layered mutations in Hh pathway may change the activation level of the Hh signals, which may explain the wide phenotypic variability of Gorlin syndrome.more | more |
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