MCID: HYW001
MIFTS: 33

Hay-Wells Syndrome malady

Categories: Genetic diseases, Rare diseases

Aliases & Classifications for Hay-Wells Syndrome

About this section

Aliases & Descriptions for Hay-Wells Syndrome:

Name: Hay-Wells Syndrome 50 46 23 24 68 12
Aec Syndrome 46 23 24 68 48
Ankyloblepharon-Ectodermal Defects-Cleft Lip/palate 23 68
Ankyloblepharon-Ectodermal Defects-Cleft Lip and Palate Syndrome 24
 
Ankyloblepharon-Ectodermal Defects-Cleft Lip/palate Syndrome 24
Ankyloblepharon Ectodermal Defects Cleft Lip/palate 46
Ankyloblepharon-Ectodermal Defect-Cleft Lip/palate 68
Aec 68

Characteristics:

HPO:

62
hay-wells syndrome:
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM50 106260
MedGen35 C0406709
MeSH37 D004476

Summaries for Hay-Wells Syndrome

About this section
NIH Rare Diseases:46 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 rapp-hodgkin syndrome and wells 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, and related mouse phenotype limbs/digits/tail.

UniProtKB/Swiss-Prot:68 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.

Genetics Home Reference:24 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:50 106260

Related Diseases for Hay-Wells Syndrome

About this section

Graphical network of diseases related to Hay-Wells Syndrome:



Diseases related to hay-wells syndrome

Symptoms for Hay-Wells Syndrome

About this section

Symptoms by clinical synopsis from OMIM:

106260

Clinical features from OMIM:

106260

HPO human phenotypes related to Hay-Wells Syndrome:

(show all 58)
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 hypospadias HP:0000047
28 micropenis HP:0000054
29 cleft palate HP:0000175
30 cleft upper lip HP:0000204
31 oval face HP:0000300
32 hypoplasia of the maxilla HP:0000327
33 conductive hearing impairment HP:0000405
34 atresia of the external auditory canal HP:0000413
35 wide nasal bridge HP:0000431
36 blepharitis HP:0000498
37 conjunctivitis HP:0000509
38 absent eyelashes HP:0000561
39 lacrimal duct atresia HP:0000564
40 sparse eyelashes HP:0000653
41 hypodontia HP:0000668
42 widely spaced teeth HP:0000687
43 conical tooth HP:0000698
44 abnormality of the nervous system HP:0000707
45 hyperpigmentation of the skin HP:0000953
46 anhidrosis HP:0000970
47 palmoplantar keratoderma HP:0000982
48 selective tooth agenesis HP:0001592
49 ventricular septal defect HP:0001629
50 patent ductus arteriosus HP:0001643
51 hyperconvex nail HP:0001795
52 anonychia HP:0001798
53 sparse body hair HP:0002231
54 patchy alopecia HP:0002232
55 supernumerary nipple HP:0002558
56 2-3 toe syndactyly HP:0004691
57 nail dystrophy HP:0008404
58 ankyloblepharon HP:0009755

Drugs & Therapeutics for Hay-Wells Syndrome

About this section

Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Hay-Wells Syndrome

Genetic Tests for Hay-Wells Syndrome

About this section

Genetic tests related to Hay-Wells Syndrome:

id Genetic test Affiliating Genes
1 Ankyloblepharon-Ectodermal Defects-Cleft Lip/palate23 TP63

Anatomical Context for Hay-Wells Syndrome

About this section

MalaCards organs/tissues related to Hay-Wells Syndrome:

34
Skin

Animal Models for Hay-Wells Syndrome or affiliated genes

About this section

MGI Mouse Phenotypes related to Hay-Wells Syndrome:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053718.7FGFR2, RACK1, TP63

Publications for Hay-Wells Syndrome

About this section

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
Ectodermal Dysplasia Showing the Clinical Overlap between Hay Wells Syndrome and Bowen Armstrong Syndrome. (23056777)
2011
4
Hay-Wells syndrome of ectodermal dysplasia: A rare autosomal dominant disorder. (22346004)
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

About this section

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

68
id Symbol AA change Variation ID SNP ID
1TP63p.Leu553PheVAR_020879rs121908842
2TP63p.Cys561GlyVAR_020881rs121908843

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

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

Pathways for genes affiliated with Hay-Wells Syndrome

About this section

GO Terms for genes affiliated with Hay-Wells Syndrome

About this section

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:00020539.9FGFR2, TP63
3hair follicle morphogenesisGO:00310699.9FGFR2, TP63
4animal organ morphogenesisGO:00098879.8FGFR2, TP63
5epithelial to mesenchymal transitionGO:00018379.7FGFR2, HNRNPAB
6epithelial cell differentiationGO:00308559.5FGFR2, TP63
7apoptotic processGO:00069158.7FGFR2, RACK1, TP63

Sources for Hay-Wells Syndrome

About this section
2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet