MCID: HYW001
MIFTS: 35

Hay-Wells Syndrome malady

Genetic diseases, Rare diseases categories

Summaries for Hay-Wells Syndrome

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NIH Rare Diseases:41 Hay-wells syndrome is a form of ectodermal dysplasia, a group of conditions characterized by abnormal development of ectodermal tissues including the skin, hair, nails, teeth, and sweat glands. the most common feature is missing patches of skin (erosions) on the scalp, neck, hands, and feet. the skin erosions can lead to infection, scarring, and hair loss. other features include changes in skin coloring; misshapen or absent fingernails and toenails; malformed or missing teeth; increased sensitivity to heat; hearing loss; cleft lip and/or palate; and other facial abnormalities. this condition  is caused by mutations in the tp63 gene and is inherited in an autosomal dominant fashion. last updated: 1/5/2012

MalaCards based summary: Hay-Wells Syndrome, also known as aec syndrome, is related to wells syndrome and rapp-hodgkin syndrome, and has symptoms including autosomal dominant inheritance, hypospadias and micropenis. An important gene associated with Hay-Wells Syndrome is TP63 (tumor protein p63). The compounds bromodeoxyuridine and glutamate have been mentioned in the context of this disorder. Affiliated tissues include skin.

Genetics Home Reference:21 Ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome is a form of ectodermal dysplasia, a group of about 150 conditions characterized by abnormal development of ectodermal tissues including the skin, hair, nails, teeth, and sweat glands.

Description from OMIM:45 106260

GeneReviews summary for aec

Aliases & Classifications for Hay-Wells Syndrome

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Hay-Wells Syndrome, Aliases & Descriptions:

Name: Hay-Wells Syndrome 45 10 19 41 21
Aec Syndrome 19 41 21 43
Ankyloblepharon-Ectodermal Defects-Cleft Lip/palate Syndrome 19 21
Ankyloblepharon Ectodermal Defects Cleft Lip/palate 41 20
 
Ankyloblepharon-Ectodermal Defects-Cleft Lip and Palate Syndrome 21
Ankyloblepharon - Ectodermal Defects - Cleft Lip/palate 41
Ankyloblepharon-Ectodermal Defects-Cleft Lip/palate 45


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases


External Ids:

OMIM45 106260

Related Diseases for Hay-Wells Syndrome

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Diseases related to Hay-Wells Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 13)
idRelated DiseaseScoreTop Affiliating Genes
1wells syndrome10.9
2rapp-hodgkin syndrome10.5
3ectodermal dysplasia10.5
4cleft lip10.4
5chand syndrome10.1
6syndactyly10.0FGFR2, TP63
7cleft palate, isolated10.0FGFR2, TP63
8transitional cell carcinoma10.0FGFR2, TP63
9bladder cancer, somatic9.9TP63, FGFR2
10skin disease9.9FGFR2, TP63
11tongue squamous cell carcinoma9.7FGFR2, TP63, GNB2L1
12adenocarcinoma9.6FGFR2, TP63, GNB2L1
13prostate cancer9.5GNB2L1, TP63, FGFR2

Graphical network of diseases related to Hay-Wells Syndrome:



Diseases related to hay-wells syndrome

Symptoms for Hay-Wells Syndrome

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Symptoms by clinical synopsis from OMIM:

106260

Clinical features from OMIM:

106260

HPO human phenotypes related to Hay-Wells Syndrome:

(show all 33)
id Description Frequency HPO Source Accession
1 autosomal dominant inheritance HP:0000006
2 hypospadias HP:0000047
3 micropenis HP:0000054
4 cleft palate HP:0000175
5 cleft upper lip HP:0000204
6 oval face HP:0000300
7 hypoplasia of the maxilla HP:0000327
8 conductive hearing impairment HP:0000405
9 atresia of the external auditory canal HP:0000413
10 wide nasal bridge HP:0000431
11 blepharitis HP:0000498
12 conjunctivitis HP:0000509
13 absent eyelashes HP:0000561
14 lacrimal duct atresia HP:0000564
15 sparse eyelashes HP:0000653
16 hypodontia HP:0000668
17 widely spaced teeth HP:0000687
18 conical tooth HP:0000698
19 abnormality of the nervous system HP:0000707
20 hyperpigmentation of the skin HP:0000953
21 anhidrosis HP:0000970
22 palmoplantar keratoderma HP:0000982
23 selective tooth agenesis HP:0001592
24 ventricular septal defect HP:0001629
25 patent ductus arteriosus HP:0001643
26 hyperconvex nail HP:0001795
27 anonychia HP:0001798
28 sparse body hair HP:0002231
29 patchy alopecia HP:0002232
30 supernumerary nipples HP:0002558
31 2-3 toe syndactyly HP:0004691
32 nail dystrophy HP:0008404
33 ankyloblepharon HP:0009755

Drugs & Therapeutics for Hay-Wells Syndrome

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Drug clinical trials:

Search ClinicalTrials for Hay-Wells Syndrome

Search NIH Clinical Center for Hay-Wells Syndrome

Genetic Tests for Hay-Wells Syndrome

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Genetic tests related to Hay-Wells Syndrome:

id Genetic test Affiliating Genes
1 Ankyloblepharon-Ectodermal Defects-Cleft Lip/palate20 TP63

Anatomical Context for Hay-Wells Syndrome

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MalaCards organs/tissues related to Hay-Wells Syndrome:

31
Skin

Animal Models for Hay-Wells Syndrome or affiliated genes

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Publications for Hay-Wells Syndrome

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Articles related to Hay-Wells Syndrome:

(show all 19)
idTitleAuthorsYear
1
Syndrome in question. Hay-Wells syndrome. (24770526)
2014
2
Renal failure in Hay-Wells syndrome. (24231488)
2013
3
Hay-Wells syndrome of ectodermal dysplasia: A rare autosomal dominant disorder. (22346004)
2011
4
Ectodermal Dysplasia Showing the Clinical Overlap between Hay Wells Syndrome and Bowen Armstrong Syndrome. (23056777)
2011
5
Hay-Wells syndrome: a case report. (20520942)
2010
6
Craniofacial and anthropometric phenotype in ankyloblepharon-ectodermal defects-cleft lip/palate syndrome (Hay-Wells syndrome) in a cohort of 17 patients. (19676059)
2009
7
Hay-Wells syndrome in a child with mutation in the TP73L gene. (17910675)
2007
8
Hay-wells syndrome of ectodermal dysplasia. (16444073)
2006
9
Rapp-Hodgkin ectodermal dysplasia syndrome: the clinical and molecular overlap with Hay-Wells syndrome. (16532463)
2006
10
The Hay Wells syndrome-derived TAp63alphaQ540L mutant has impaired transcriptional and cell growth regulatory activity. (16319531)
2006
11
Hay-Wells syndrome (AEC): a case report. (16910923)
2006
12
Head and neck manifestations of Hay-Wells syndrome. (15632936)
2005
13
A neonate with denuded skin: Hay-Wells syndrome. (15262880)
2004
14
The Delta Np63 alpha phosphoprotein binds the p21 and 14-3-3 sigma promoters in vivo and has transcriptional repressor activity that is reduced by Hay-Wells syndrome-derived mutations. (12640112)
2003
15
P63 alpha mutations lead to aberrant splicing of keratinocyte growth factor receptor in the Hay-Wells syndrome. (12692135)
2003
16
Bilateral nephroblastoma in familial Hay-Wells syndrome associated with familial reticulate pigmentation of the skin. (12116255)
2002
17
Hay-Wells syndrome is caused by heterozygous missense mutations in the SAM domain of p63. (11159940)
2001
18
What syndrome is this? Ankyloblepharon-ectodermal defects--cleft lip and palate (Hay-Wells) syndrome. (9336818)
1997
19
Hay-Wells syndrome. (3809025)
1986

Variations for Hay-Wells Syndrome

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UniProtKB/Swiss-Prot genetic disease variations for Hay-Wells Syndrome:

62
id Symbol AA change Variation ID SNP ID
1TP63p.Leu553PheVAR_020879
2TP63p.Cys561GlyVAR_020881

Clinvar genetic disease variations for Hay-Wells Syndrome:

6
id Gene Variation Type Significance SNP ID Assembly Location
1TP63NM_003722.4(TP63): c.1659A> T (p.Leu553Phe)single nucleotide variantPathogenicrs121908842GRCh37Chr 3, 189608584: 189608584
2TP63NM_003722.4(TP63): c.1681T> G (p.Cys561Gly)single nucleotide variantPathogenicrs121908843GRCh37Chr 3, 189608606: 189608606
3TP63NM_003722.4(TP63): c.1646T> C (p.Ile549Thr)single nucleotide variantPathogenicrs121908845GRCh37Chr 3, 189607267: 189607267

Expression for genes affiliated with Hay-Wells Syndrome

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Search GEO for disease gene expression data for Hay-Wells Syndrome.

Pathways for genes affiliated with Hay-Wells Syndrome

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Compounds for genes affiliated with Hay-Wells Syndrome

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Sources:
43Novoseek
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Compounds related to Hay-Wells Syndrome according to GeneCards Suite gene sharing:

idCompoundScoreTop Affiliating Genes
1bromodeoxyuridine439.5FGFR2, TP63
2glutamate438.7FGFR2, TP63, GNB2L1

GO Terms for genes affiliated with Hay-Wells Syndrome

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Cellular components related to Hay-Wells Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1dendriteGO:00304259.5TP63, GNB2L1
2nucleusGO:00056347.2FGFR2, HNRNPAB, TP63, SCAF4, GNB2L1

Biological processes related to Hay-Wells Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1squamous basal epithelial stem cell differentiation involved in prostate gland acinus developmentGO:00605299.5FGFR2, TP63
2positive regulation of mesenchymal cell proliferationGO:00020539.5FGFR2, TP63
3hair follicle morphogenesisGO:00310699.4FGFR2, TP63
4epithelial to mesenchymal transitionGO:00018379.0FGFR2, HNRNPAB

Molecular functions related to Hay-Wells Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1poly(A) RNA bindingGO:00448228.5HNRNPAB, SCAF4, GNB2L1

Products for genes affiliated with Hay-Wells Syndrome

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Sources for Hay-Wells Syndrome

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet