PhenoModifier-Disease Detail

Disorder "Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip-Palate Syndrome"

Found 1 record

Disorder information

Disorder name:

Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip-Palate Syndrome

Disoder ID:

DOID_0060784,DOID_0060783,DOID_0060773

OMIM entry:

OMIM:129900 ,OMIM:604292 ,OMIM:225060

Definition:

An autosomal dominant disease characterized by ectrodactyly, ectodermal dysplasia, and orofacial clefts (cleft lip-palate)

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	23775923 more

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