Disorder "Ectodermal Dysplasia"
Found 1 record
Disorder information
Disorder name:
Ectodermal Dysplasia
Disoder ID:
OMIM entry:
Synonyms:
Congenital ectodermal defect,Congenital ectodermal defect (disorder),Congenital ectodermal dysplasia
Definition:
Ectodermal dysplasia is a group of conditions in which there is abnormal development of the skin, hair, nails, teeth, or sweat glands.
Modifier statisitcs
Record:
1
Gene:
1
Variant:
1
Reference:
1
Effect type:
Penetrance and Expressivity(1)
Modifier effect:
Altered phenotype(1)
| Modifier gene | Variant | Effect type | Modifier effect | Evidence | Effect | PubMed ID |
|---|---|---|---|---|---|---|
| TP63 | TP63:p.Arg318His | Penetrance and Expressivity | Altered phenotype | Study on animal models | TP63/Trp63 give rise to two classes of transcripts, TAp63 and ΔNp63. TAp63 is a strong modifier of EEC-associated phenotypes with regard to both penetrance and expressivitymore | more |
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