MCID: HYW001
MIFTS: 37

Hay-Wells Syndrome malady

Genetic diseases, Rare diseases categories

Aliases & Classifications for Hay-Wells Syndrome

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Aliases & Descriptions for Hay-Wells Syndrome:

Name: Hay-Wells Syndrome 49 11 45 22 23 67
Aec Syndrome 45 22 23 47 67
Ankyloblepharon Ectodermal Defects Cleft Lip/palate 45 22
Ankyloblepharon-Ectodermal Defects-Cleft Lip and Palate Syndrome 23
 
Ankyloblepharon-Ectodermal Defects-Cleft Lip/palate Syndrome 23
Ankyloblepharon-Ectodermal Defects-Cleft Lip/palate 67
Ankyloblepharon-Ectodermal Defect-Cleft Lip/palate 67
Aec 67


Classifications:



External Ids:

OMIM49 106260
MedGen34 C0406709
MeSH36 D004476

Summaries for Hay-Wells Syndrome

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NIH Rare Diseases:45 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 abnormality of the nose, hypohidrosis and abnormality of the fingernails. An important gene associated with Hay-Wells Syndrome is TP63 (Tumor Protein P63). Affiliated tissues include skin.

Genetics Home Reference:23 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.

UniProtKB/Swiss-Prot:67 Ankyloblepharon-ectodermal defects-cleft lip/palate: An autosomal dominant condition characterized by congenital ectodermal dysplasia with coarse, wiry, sparse hair, dystrophic nails, slight hypohidrosis, scalp infections, ankyloblepharon filiform adnatum, maxillary hypoplasia, hypodontia and cleft lip/palate.

Description from OMIM:49 106260

Related Diseases for Hay-Wells Syndrome

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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 59)
id Description Frequency HPO Source Accession
1 abnormality of the nose hallmark (90%) HP:0000366
2 hypohidrosis hallmark (90%) HP:0000966
3 abnormality of the fingernails hallmark (90%) HP:0001231
4 coarse hair hallmark (90%) HP:0002208
5 abnormality of the palpebral fissures hallmark (90%) HP:0008050
6 abnormality of the toenails hallmark (90%) HP:0008388
7 abnormal hair quantity hallmark (90%) HP:0011362
8 non-midline cleft lip hallmark (90%) HP:0100335
9 cleft palate typical (50%) HP:0000175
10 micrognathia typical (50%) HP:0000347
11 abnormality of the eyelashes typical (50%) HP:0000499
12 abnormality of dental enamel typical (50%) HP:0000682
13 palmoplantar keratoderma typical (50%) HP:0000982
14 abnormality of dental morphology typical (50%) HP:0006482
15 generalized hyperpigmentation typical (50%) HP:0007440
16 reduced number of teeth typical (50%) HP:0009804
17 aplasia/hypoplasia of the eyebrow typical (50%) HP:0100840
18 abnormality of the pinna occasional (7.5%) HP:0000377
19 conductive hearing impairment occasional (7.5%) HP:0000405
20 lacrimation abnormality occasional (7.5%) HP:0000632
21 delayed eruption of teeth occasional (7.5%) HP:0000684
22 abnormality of the voice occasional (7.5%) HP:0001608
23 ventricular septal defect occasional (7.5%) HP:0001629
24 supernumerary nipple occasional (7.5%) HP:0002558
25 clinodactyly of the 5th finger occasional (7.5%) HP:0004209
26 finger syndactyly occasional (7.5%) HP:0006101
27 autosomal dominant inheritance HP:0000006
28 hypospadias HP:0000047
29 micropenis HP:0000054
30 cleft palate HP:0000175
31 cleft upper lip HP:0000204
32 oval face HP:0000300
33 hypoplasia of the maxilla HP:0000327
34 conductive hearing impairment HP:0000405
35 atresia of the external auditory canal HP:0000413
36 wide nasal bridge HP:0000431
37 blepharitis HP:0000498
38 conjunctivitis HP:0000509
39 absent eyelashes HP:0000561
40 lacrimal duct atresia HP:0000564
41 sparse eyelashes HP:0000653
42 hypodontia HP:0000668
43 widely spaced teeth HP:0000687
44 conical tooth HP:0000698
45 abnormality of the nervous system HP:0000707
46 hyperpigmentation of the skin HP:0000953
47 anhidrosis HP:0000970
48 palmoplantar keratoderma HP:0000982
49 selective tooth agenesis HP:0001592
50 ventricular septal defect HP:0001629
51 patent ductus arteriosus HP:0001643
52 hyperconvex nail HP:0001795
53 anonychia HP:0001798
54 sparse body hair HP:0002231
55 patchy alopecia HP:0002232
56 supernumerary nipple HP:0002558
57 2-3 toe syndactyly HP:0004691
58 nail dystrophy HP:0008404
59 ankyloblepharon HP:0009755

Drugs & Therapeutics for Hay-Wells Syndrome

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Interventional clinical trials:

Search ClinicalTrials, 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/palate22 TP63

Anatomical Context for Hay-Wells Syndrome

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MalaCards organs/tissues related to Hay-Wells Syndrome:

33
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:

67
id Symbol AA change Variation ID SNP ID
1TP63p.Leu553PheVAR_020879
2TP63p.Cys561GlyVAR_020881

Clinvar genetic disease variations for Hay-Wells Syndrome:

5
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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GO Terms for genes affiliated with Hay-Wells Syndrome

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

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1squamous basal epithelial stem cell differentiation involved in prostate gland acinus developmentGO:006052910.1FGFR2, TP63
2positive regulation of mesenchymal cell proliferationGO:000205310.0FGFR2, TP63
3hair follicle morphogenesisGO:00310699.9FGFR2, TP63
4epithelial to mesenchymal transitionGO:00018379.7FGFR2, HNRNPAB
5organ morphogenesisGO:00098879.7FGFR2, TP63
6epithelial cell differentiationGO:00308559.2FGFR2, TP63
7negative regulation of transcription from RNA polymerase II promoterGO:00001228.9FGFR2, HNRNPAB, TP63

Sources for Hay-Wells Syndrome

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet