Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip-Palate Syndrome 3

mutation in TP63

Also Known As:

Networked: 4 relevant articles (0 outcomes, 0 trials/studies)

Disease Context: Research Results

Related Diseases

1.	Ectodermal Dysplasia (Aplasia Cutis Congenita)
2.	Cleft Lip (Harelip)
3.	Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip-Palate Syndrome 3
4.	Rapp-Hodgkin syndrome
5.	Neoplasms (Cancer)

Experts

1.	AlLafi, Atlal: 1 article (11/2021)
2.	AlMasry, Iman M: 1 article (11/2021)
3.	Betz, Regina: 1 article (11/2021)
4.	Nanda, Arti: 1 article (11/2021)
5.	Wolf, Sabrina: 1 article (11/2021)
6.	Atenafu, Eshetu G: 1 article (03/2021)
7.	Bernardini, Marcus Q: 1 article (03/2021)
8.	Brett, Mary Anne: 1 article (03/2021)
9.	Clarke, Blaise A: 1 article (03/2021)
10.	Ghatage, Prafull: 1 article (03/2021)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip-Palate Syndrome 3:

1.	Transcription Factors (Transcription Factor)IBA 04/01/2016 - "The ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 (EEC3; OMIM #604292), the Rapp-Hodgkin syndrome (RHS), and various other syndromes are caused by mutations in the TP63 gene, which encodes a p53-like transcription factor. "
2.	Proteins (Proteins, Gene)FDA Link 10/01/2019 - "Tumor protein p63 (TP63)-related disorders can be divided into at least six categories, including ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome 3 (EEC syndrome 3), ankyloblepharon-ectodermal defects-cleft lip/palate syndrome (AEC syndrome), acro-dermo-ungual-lacrimal-tooth syndrome (ADULT syndrome), limb-mammary syndrome (LMS), Rapp-Hodgkin syndrome (RHS) and split-hand/foot malformation 4 (SHFM4), and are all a result of heterozygous mutations of TP63. "
3.	DNA (Deoxyribonucleic Acid)IBA 11/15/2021 - "The present report describes the identification of heterozygous de novo pathogenic variants in the DNA binding domain (DBD) of the TP63 gene in two patients diagnosed with Ectodermal dysplasia-Ectrodactyly-Cleft lip/palate syndrome three (EEC3) and Ankyloblepharon-Ectodermal defects-Cleft lip/palate syndrome (AEC), respectively. "

Therapies and Procedures

1.	Therapeutics 03/01/2021 - "p53 mutated, MMR-proficient EEC3 and ESC have overlapping survival significantly different from p53 wild-type EEC3, which justifies a similar treatment with current non-targeted standard therapy. "