MCID: HYW001
MIFTS: 36

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

Characteristics:

HPO:

61
hay-wells syndrome:
Inheritance: autosomal dominant inheritance


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 atherosclerosis and rapp-hodgkin syndrome, and has symptoms including non-midline cleft lip, abnormal hair quantity and abnormality of the toenails. An important gene associated with Hay-Wells Syndrome is TP63 (Tumor Protein P63). Affiliated tissues include skin, lung and pituitary.

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

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, Lung, Pituitary

Animal Models for Hay-Wells Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Hay-Wells Syndrome:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes

Publications for Hay-Wells Syndrome

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Articles related to Hay-Wells Syndrome:

(show all 19)
idTitleAuthorsYear
1
Motion Sickness and Resting Energy Expenditure in Chinese Male Adults. (27026119)
2016
2
Potentiation of neuritogenic activity of medicinal mushrooms in rat pheochromocytoma cells. (23822837)
2013
3
Effects of air pollution on lung function and symptoms of asthma, rhinitis and eczema in primary school children. (23591930)
2013
4
The association between glutathione S-transferase T1 and M1 gene polymorphisms and cardiovascular autonomic neuropathy in Slovak adolescents with type 1 diabetes mellitus. (23021798)
2013
5
Array-CGH characterization of a de novo t(X;Y)(p22;q11) in a female with short stature and mental retardation. (22583828)
2012
6
An autopsy case of unexpected sudden death due to rupture of a thoracic aortic aneurysm into the left lung. (21377396)
2011
7
Sequential and gamma-secretase-dependent processing of the betacellulin precursor generates a palmitoylated intracellular-domain fragment that inhibits cell growth. (20530572)
2010
8
Atypical presentation of congenital epulis: case report and review of the literature. (19442358)
2009
9
Cutaneous angiosarcoma in a patient with xeroderma pigmentosum. (19008576)
2008
10
Genotyping of Mycoplasma mycoides subsp. mycoides SC by multilocus sequence analysis allows molecular epidemiology of contagious bovine pleuropneumonia. (18258170)
2008
11
Single-band mucosectomy for granular cell tumor of the esophagus: safe and easy technique. (16858529)
2006
12
C-reactive protein induces NF-kappaB activation through intracellular calcium and ROS in human mesangial cells. (16131811)
2005
13
Is idiopathic ventricular fibrillation a short QT syndrome? Comparison of QT intervals of patients with idiopathic ventricular fibrillation and healthy controls. (15851224)
2004
14
Spotted fever group rickettsiae in ticks from the Masai Mara region of Kenya. (12812343)
2003
15
An ulcerating nodule on the arm. Lymphocutaneous sporotrichosis. (9801688)
1998
16
Trismus associated with hypokalemic periodic paralysis. (9251437)
1996
17
Expression of bcl-2 oncoprotein in pituitary tumours: comparison with c-myc. (8943742)
1996
18
Ionizing radiation activates nuclear factor kappa B but fails to produce an increase in human immunodeficiency virus gene expression in stably transfected human cells. (7495808)
1995
19
Identification of MRF4, myogenin, and E12 oligomer complexes by chemical cross-linking and two-dimensional gel electrophoresis. (1311321)
1992

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:

idNameGO IDScoreTop Affiliating Genes
1squamous basal epithelial stem cell differentiation involved in prostate gland acinus developmentGO:00605299.8FGFR2, TP63
2epithelial cell differentiationGO:00308559.5FGFR2, TP63

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

idNameGO IDScoreTop Affiliating Genes
1nucleotide bindingGO:00001669.3HNRNPAB, SCAF4

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