MCID: HYW001
MIFTS: 32

Hay-Wells Syndrome malady

Categories: Genetic diseases, Rare diseases

Aliases & Classifications for Hay-Wells Syndrome

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Aliases & Descriptions for Hay-Wells Syndrome:

Name: Hay-Wells Syndrome 52 48 24 25 70 12
Aec Syndrome 48 24 25 70 50
Ankyloblepharon-Ectodermal Defects-Cleft Lip/palate Syndrome 48 25
Ankyloblepharon-Ectodermal Defects-Cleft Lip/palate 24 70
 
Ankyloblepharon-Ectodermal Defects-Cleft Lip and Palate Syndrome 25
Ankyloblepharon Ectodermal Defects Cleft Lip/palate 48
Ankyloblepharon-Ectodermal Defect-Cleft Lip/palate 70
Aec 70

Characteristics:

HPO:

64
hay-wells syndrome:
Inheritance: autosomal dominant inheritance

Classifications:



External Ids:

OMIM52 106260
MedGen37 C0406709
MeSH39 D004476

Summaries for Hay-Wells Syndrome

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NIH Rare Diseases:48 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.

Genetics Home Reference:25 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:70 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:52 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 & Phenotypes for Hay-Wells Syndrome

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Symptoms by clinical synopsis from OMIM:

106260

Clinical features from OMIM:

106260

Human phenotypes related to Hay-Wells Syndrome:

 64 (show all 53)
id Description HPO Frequency HPO Source Accession
1 abnormality of the nose64 hallmark (90%) HP:0000366
2 hypohidrosis64 hallmark (90%) HP:0000966
3 abnormality of the fingernails64 hallmark (90%) HP:0001231
4 coarse hair64 hallmark (90%) HP:0002208
5 abnormality of the palpebral fissures64 hallmark (90%) HP:0008050
6 abnormality of the toenails64 hallmark (90%) HP:0008388
7 abnormal hair quantity64 hallmark (90%) HP:0011362
8 non-midline cleft lip64 hallmark (90%) HP:0100335
9 cleft palate64 typical (50%) HP:0000175
10 micrognathia64 typical (50%) HP:0000347
11 abnormality of the eyelashes64 typical (50%) HP:0000499
12 abnormality of dental enamel64 typical (50%) HP:0000682
13 palmoplantar keratoderma64 typical (50%) HP:0000982
14 abnormality of dental morphology64 typical (50%) HP:0006482
15 generalized hyperpigmentation64 typical (50%) HP:0007440
16 reduced number of teeth64 typical (50%) HP:0009804
17 aplasia/hypoplasia of the eyebrow64 typical (50%) HP:0100840
18 abnormality of the pinna64 occasional (7.5%) HP:0000377
19 conductive hearing impairment64 occasional (7.5%) HP:0000405
20 lacrimation abnormality64 occasional (7.5%) HP:0000632
21 delayed eruption of teeth64 occasional (7.5%) HP:0000684
22 abnormality of the voice64 occasional (7.5%) HP:0001608
23 ventricular septal defect64 occasional (7.5%) HP:0001629
24 supernumerary nipple64 occasional (7.5%) HP:0002558
25 clinodactyly of the 5th finger64 occasional (7.5%) HP:0004209
26 finger syndactyly64 occasional (7.5%) HP:0006101
27 hypospadias64 HP:0000047
28 micropenis64 HP:0000054
29 cleft upper lip64 HP:0000204
30 oval face64 HP:0000300
31 hypoplasia of the maxilla64 HP:0000327
32 atresia of the external auditory canal64 HP:0000413
33 wide nasal bridge64 HP:0000431
34 blepharitis64 HP:0000498
35 conjunctivitis64 HP:0000509
36 absent eyelashes64 HP:0000561
37 lacrimal duct atresia64 HP:0000564
38 sparse eyelashes64 HP:0000653
39 hypodontia64 HP:0000668
40 widely spaced teeth64 HP:0000687
41 conical tooth64 HP:0000698
42 abnormality of the nervous system64 HP:0000707
43 hyperpigmentation of the skin64 HP:0000953
44 anhidrosis64 HP:0000970
45 selective tooth agenesis64 HP:0001592
46 patent ductus arteriosus64 HP:0001643
47 hyperconvex nail64 HP:0001795
48 anonychia64 HP:0001798
49 sparse body hair64 HP:0002231
50 patchy alopecia64 HP:0002232
51 2-3 toe syndactyly64 HP:0004691
52 nail dystrophy64 HP:0008404
53 ankyloblepharon64 HP:0009755

MGI Mouse Phenotypes related to Hay-Wells Syndrome according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053718.9FGFR2, RACK1, TP63

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/palate24 TP63

Anatomical Context for Hay-Wells Syndrome

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MalaCards organs/tissues related to Hay-Wells Syndrome:

36
Skin

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
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

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

70
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)SNVPathogenicrs121908842GRCh37Chr 3, 189608584: 189608584
2TP63NM_003722.4(TP63): c.1681T> G (p.Cys561Gly)SNVPathogenicrs121908843GRCh37Chr 3, 189608606: 189608606
3TP63NM_003722.4(TP63): c.1646T> C (p.Ile549Thr)SNVPathogenicrs121908845GRCh37Chr 3, 189607267: 189607267
4TP63TP63, 11-BP DUP, NT1716duplicationPathogenicChr na, -1: -1

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
1animal organ morphogenesisGO:000988710.2FGFR2, TP63
2epithelial cell differentiationGO:003085510.0FGFR2, TP63
3epithelial to mesenchymal transitionGO:00018379.9FGFR2, HNRNPAB
4hair follicle morphogenesisGO:00310699.9FGFR2, TP63
5squamous basal epithelial stem cell differentiation involved in prostate gland acinus developmentGO:00605299.5FGFR2, TP63
6apoptotic processGO:00069159.4FGFR2, RACK1, TP63
7positive regulation of mesenchymal cell proliferationGO:00020539.4FGFR2, TP63

Sources for Hay-Wells Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet