AEC
MCID: HYW001
MIFTS: 32

Hay-Wells Syndrome (AEC) 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 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

About this section
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 hypospadias, micropenis and cleft palate. An important gene associated with Hay-Wells Syndrome is TP63 (Tumor Protein P63). Affiliated tissues include skin.

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

About this section

Graphical network of diseases related to Hay-Wells Syndrome:



Diseases related to hay-wells syndrome

Symptoms & Phenotypes for Hay-Wells Syndrome

About this section

Symptoms by clinical synopsis from OMIM:

106260

Clinical features from OMIM:

106260

Human phenotypes related to Hay-Wells Syndrome:

 64 (show all 51)
id Description HPO Frequency HPO Source Accession
1 hypospadias64 HP:0000047
2 micropenis64 HP:0000054
3 cleft palate64 HP:0000175
4 cleft upper lip64 HP:0000204
5 oval face64 HP:0000300
6 hypoplasia of the maxilla64 HP:0000327
7 conductive hearing impairment64 HP:0000405
8 atresia of the external auditory canal64 HP:0000413
9 wide nasal bridge64 HP:0000431
10 blepharitis64 HP:0000498
11 conjunctivitis64 HP:0000509
12 absent eyelashes64 HP:0000561
13 lacrimal duct atresia64 HP:0000564
14 sparse eyelashes64 HP:0000653
15 hypodontia64 HP:0000668
16 widely spaced teeth64 HP:0000687
17 conical tooth64 HP:0000698
18 abnormality of the nervous system64 HP:0000707
19 hyperpigmentation of the skin64 HP:0000953
20 anhidrosis64 HP:0000970
21 palmoplantar keratoderma64 HP:0000982
22 selective tooth agenesis64 HP:0001592
23 ventricular septal defect64 HP:0001629
24 patent ductus arteriosus64 HP:0001643
25 hyperconvex nail64 HP:0001795
26 anonychia64 HP:0001798
27 sparse body hair64 HP:0002231
28 patchy alopecia64 HP:0002232
29 supernumerary nipple64 HP:0002558
30 2-3 toe syndactyly64 HP:0004691
31 nail dystrophy64 HP:0008404
32 ankyloblepharon64 HP:0009755
33 submucous cleft hard palate64 HP:0000176
34 micrognathia64 HP:0000347
35 protruding ear64 HP:0000411
36 sparse and thin eyebrow64 HP:0000535
37 abnormality of dental enamel64 HP:0000682
38 delayed eruption of teeth64 HP:0000684
39 hypohidrosis64 HP:0000966
40 hypotrichosis64 HP:0001006
41 absent lacrimal punctum64 HP:0001092
42 abnormality of the voice64 HP:0001608
43 dystrophic toenail64 HP:0001810
44 hyperconvex fingernails64 HP:0001812
45 coarse hair64 HP:0002208
46 clinodactyly of the 5th finger64 HP:0004209
47 finger syndactyly64 HP:0006101
48 generalized hyperpigmentation64 HP:0007440
49 dystrophic fingernails64 HP:0008391
50 submucous cleft soft palate64 HP:0011819
51 non-midline cleft lip64 HP:0100335

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/palate24 TP63

Anatomical Context for Hay-Wells Syndrome

About this section

MalaCards organs/tissues related to Hay-Wells Syndrome:

36
Skin

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
The Hay Wells syndrome-derived TAp63alphaQ540L mutant has impaired transcriptional and cell growth regulatory activity. (16319531)
2006
9
Hay-Wells syndrome (AEC): a case report. (16910923)
2006
10
Hay-wells syndrome of ectodermal dysplasia. (16444073)
2006
11
Rapp-Hodgkin ectodermal dysplasia syndrome: the clinical and molecular overlap with Hay-Wells syndrome. (16532463)
2006
12
Head and neck manifestations of Hay-Wells syndrome. (15632936)
2005
13
A neonate with denuded skin: Hay-Wells syndrome. (15262880)
2004
14
P63 alpha mutations lead to aberrant splicing of keratinocyte growth factor receptor in the Hay-Wells syndrome. (12692135)
2003
15
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
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:

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, NT1716duplicationPathogenic

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

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

idNameGO IDScoreTop Affiliating Genes
1nucleoplasmGO:00056547.5FGFR2, HNRNPAB, RACK1, SCAF4, TP63

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

About this section
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