MCID: TP6001
MIFTS: 10

Tp63-Related Disorders

Aliases & Classifications for Tp63-Related Disorders

MalaCards integrated aliases for Tp63-Related Disorders:

Name: Tp63-Related Disorders 25

Characteristics:

GeneReviews:

25
Penetrance Reduced penetrance or possible germline mosaicism has been documented in a small number of individuals and families....

Summaries for Tp63-Related Disorders

MalaCards based summary : Tp63-Related Disorders is related to cleft lip and cleft lip/palate. An important gene associated with Tp63-Related Disorders is TP63 (Tumor Protein P63).

GeneReviews: NBK43797

Related Diseases for Tp63-Related Disorders

Graphical network of the top 20 diseases related to Tp63-Related Disorders:



Diseases related to Tp63-Related Disorders

Symptoms & Phenotypes for Tp63-Related Disorders

Drugs & Therapeutics for Tp63-Related Disorders

Search Clinical Trials , NIH Clinical Center for Tp63-Related Disorders

Genetic Tests for Tp63-Related Disorders

Anatomical Context for Tp63-Related Disorders

Publications for Tp63-Related Disorders

Articles related to Tp63-Related Disorders:

(show top 50) (show all 56)
# Title Authors PMID Year
1
Recurrence of split hand/foot malformation, cleft lip/palate, and severe urogenital abnormalities due to germline mosaicism for TP63 mutation. 61 25
27351625 2016
2
Deletions and loss-of-function variants in TP63 associated with orofacial clefting. 25
30850703 2019
3
Sweating ability of patients with p63-associated syndromes. 25
30088137 2018
4
Whole exome sequencing identifies mutations in 10% of patients with familial non-syndromic cleft lip and/or palate in genes mutated in well-known syndromes. 25
29500247 2018
5
Master regulatory role of p63 in epidermal development and disease. 25
29103147 2018
6
Novel heterozygous pathogenic variants in CHUK in a patient with AEC-like phenotype, immune deficiencies and 1q21.1 microdeletion syndrome: a case report. 25
29523099 2018
7
The Human Gene Mutation Database: towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and next-generation sequencing studies. 25
28349240 2017
8
A global analysis of the complex landscape of isoforms and regulatory networks of p63 in human cells and tissues. 25
26251276 2015
9
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. 25
25741868 2015
10
TAp63gamma is required for the late stages of myogenesis. 25
25790093 2015
11
DLX5, FGF8 and the Pin1 isomerase control ΔNp63α protein stability during limb development: a regulatory loop at the basis of the SHFM and EEC congenital malformations. 25
24569166 2014
12
EEC- and ADULT-associated TP63 mutations exhibit functional heterogeneity toward P63 responsive sequences. 25
23463580 2013
13
Role of p63 and the Notch pathway in cochlea development and sensorineural deafness. 25
23589895 2013
14
Impaired epithelial differentiation of induced pluripotent stem cells from ectodermal dysplasia-related patients is rescued by the small compound APR-246/PRIMA-1MET. 25
23355677 2013
15
Genomic profiling of a human organotypic model of AEC syndrome reveals ZNF750 as an essential downstream target of mutant TP63. 25
22922031 2012
16
Exon-level array CGH in a large clinical cohort demonstrates increased sensitivity of diagnostic testing for Mendelian disorders. 25
22382802 2012
17
TAp63 is important for cardiac differentiation of embryonic stem cells and heart development. 25
21898690 2011
18
DNA damage in oocytes induces a switch of the quality control factor TAp63α from dimer to tetramer. 25
21335238 2011
19
Oral findings in ankyloblepharon-ectodermal dysplasia-cleft lip/palate (AEC) syndrome. 25
19681142 2009
20
Dermatologic findings of ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome. 25
19681128 2009
21
Growth, nutritional, and gastrointestinal aspects of ankyloblepharon-ectodermal defect-cleft lip and/or palate (AEC) syndrome. 25
19676058 2009
22
Psychosocial functioning and quality of life in children and families affected by AEC syndrome. 25
19504609 2009
23
Pathologic changes of skin and hair in ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome. 25
19697429 2009
24
Facial clefting and oroauditory pathway manifestations in ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome. 25
19697430 2009
25
Craniofacial and anthropometric phenotype in ankyloblepharon-ectodermal defects-cleft lip/palate syndrome (Hay-Wells syndrome) in a cohort of 17 patients. 25
19676059 2009
26
A novel TP63 mutation in family with ADULT syndrome presenting with eczema and hypothelia. 25
19530185 2009
27
Homozygous WNT10b mutation and complex inheritance in Split-Hand/Foot Malformation. 25
18515319 2008
28
A novel translation re-initiation mechanism for the p63 gene revealed by amino-terminal truncating mutations in Rapp-Hodgkin/Hay-Wells-like syndromes. 25
18364388 2008
29
p63-associated disorders. 25
17224651 2007
30
Delineation of the ADULT syndrome phenotype due to arginine 298 mutations of the p63 gene. 25
16724007 2006
31
Genotype-phenotype correlations in mapped split hand foot malformation (SHFM) patients. 25
16688749 2006
32
Pattern of p63 mutations and their phenotypes--update. 25
16691622 2006
33
A mutation of the p63 gene in non-syndromic cleft lip. 25
16740912 2006
34
Skin erosions and wound healing in ankyloblepharon-ectodermal defect-cleft lip and/or palate. 25
16365264 2005
35
A genomic rearrangement resulting in a tandem duplication is associated with split hand-split foot malformation 3 (SHFM3) at 10q24. 25
12913067 2003
36
Analysis of the p63 gene in classical EEC syndrome, related syndromes, and non-syndromic orofacial clefts. 25
12161593 2002
37
p63 Gene mutations in eec syndrome, limb-mammary syndrome, and isolated split hand-split foot malformation suggest a genotype-phenotype correlation. 25
11462173 2001
38
TP63 gene mutation in ADULT syndrome. 25
11528512 2001
39
Hay-Wells syndrome is caused by heterozygous missense mutations in the SAM domain of p63. 25
11159940 2001
40
Heterozygous germline mutations in the p53 homolog p63 are the cause of EEC syndrome. 25
10535733 1999
41
Limb mammary syndrome: a new genetic disorder with mammary hypoplasia, ectrodactyly, and other Hand/Foot anomalies maps to human chromosome 3q27. 25
9973291 1999
42
Syndromic ectrodactyly with severe limb, ectodermal, urogenital, and palatal defects maps to chromosome 19. 25
9443880 1998
43
Twenty-four cases of the EEC syndrome: clinical presentation and management. 25
8544192 1995
44
Rapp-Hodgkin syndrome and AEC syndrome: are they the same entity? 25
8305327 1994
45
Anomalous inheritance in a kindred with split hand, split foot malformation. 25
3366140 1988
46
The EEC syndrome. Report of six patients. 25
4425508 1974
47
TP63-mutation as a cause of prenatal lethal multicystic dysplastic kidneys. 61
32881366 2020
48
A novel mutation (c.1010G>T; p.R337L) in TP63 as a cause of split-hand/foot malformation with hypodontia. 61
31420900 2019
49
TP63-truncating variants cause isolated premature ovarian insufficiency. 61
30924587 2019
50
Tooth defects of EEC and AEC syndrome caused by heterozygous TP63 mutations in three Chinese families and genotype-phenotype correlation analyses of TP63-related disorders. 61
31050217 2019

Variations for Tp63-Related Disorders

Expression for Tp63-Related Disorders

Search GEO for disease gene expression data for Tp63-Related Disorders.

Pathways for Tp63-Related Disorders

GO Terms for Tp63-Related Disorders

Sources for Tp63-Related Disorders

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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