AEC
MCID: HYW001
MIFTS: 32

Hay-Wells Syndrome (AEC) malady

Categories: Genetic diseases, Rare diseases

Aliases & Classifications for Hay-Wells Syndrome

Aliases & Descriptions for Hay-Wells Syndrome:

Name: Hay-Wells Syndrome 54 50 24 25 66 13
Aec Syndrome 50 24 25 66 52
Ankyloblepharon-Ectodermal Defects-Cleft Lip/palate Syndrome 50 25
Ankyloblepharon-Ectodermal Defects-Cleft Lip/palate 24 66
Ankyloblepharon-Ectodermal Defects-Cleft Lip and Palate Syndrome 25
Ankyloblepharon Ectodermal Defects Cleft Lip/palate 50
Ankyloblepharon-Ectodermal Defect-Cleft Lip/palate 66
Aec 66

Characteristics:

HPO:

32
hay-wells syndrome:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 54 106260
MedGen 40 C0406709
MeSH 42 D004476

Summaries for Hay-Wells Syndrome

NIH Rare Diseases : 50 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 finger syndactyly, widely spaced teeth and wide nasal bridge. 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 : 66 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: 106260

Related Diseases for Hay-Wells Syndrome

Diseases related to Hay-Wells Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 12)
id Related Disease Score Top Affiliating Genes
1 rapp-hodgkin syndrome 11.3
2 wells syndrome 10.5
3 ectodermal dysplasia 10.1
4 aica-ribosiduria due to atic deficiency 10.0 FGFR2 TP63
5 cleft lip 10.0
6 saddan 10.0 FGFR2 TP63
7 taeniasis 10.0 FGFR2 TP63
8 hypoparathyroidism 9.9 FGFR2 TP63
9 myasthenic syndrome, congenital, 2c, associated with acetylcholine receptor deficiency 9.9 FGFR2 TP63
10 cleft lip/palate 9.8
11 catshl syndrome 9.3 FGFR2 HNRNPAB RACK1 SCAF4 TP63
12 wilkes stevenson syndrome 9.3 FGFR2 HNRNPAB RACK1 SCAF4 TP63

Graphical network of the top 20 diseases related to Hay-Wells Syndrome:



Diseases related to Hay-Wells Syndrome

Symptoms & Phenotypes for Hay-Wells Syndrome

Symptoms by clinical synopsis from OMIM:

106260

Clinical features from OMIM:

106260

Human phenotypes related to Hay-Wells Syndrome:

32 (show top 50) (show all 51)
id Description HPO Frequency HPO Source Accession
1 finger syndactyly 32 HP:0006101
2 widely spaced teeth 32 HP:0000687
3 wide nasal bridge 32 HP:0000431
4 coarse hair 32 HP:0002208
5 cleft palate 32 HP:0000175
6 micrognathia 32 HP:0000347
7 palmoplantar keratoderma 32 HP:0000982
8 nail dystrophy 32 HP:0008404
9 delayed eruption of teeth 32 HP:0000684
10 patent ductus arteriosus 32 HP:0001643
11 hypohidrosis 32 HP:0000966
12 hyperconvex fingernails 32 HP:0001812
13 protruding ear 32 HP:0000411
14 non-midline cleft lip 32 HP:0100335
15 blepharitis 32 HP:0000498
16 hypospadias 32 HP:0000047
17 clinodactyly of the 5th finger 32 HP:0004209
18 hypoplasia of the maxilla 32 HP:0000327
19 abnormality of the voice 32 HP:0001608
20 conductive hearing impairment 32 HP:0000405
21 hypotrichosis 32 HP:0001006
22 anonychia 32 HP:0001798
23 abnormality of dental enamel 32 HP:0000682
24 ventricular septal defect 32 HP:0001629
25 abnormality of the nervous system 32 HP:0000707
26 conjunctivitis 32 HP:0000509
27 hypodontia 32 HP:0000668
28 sparse body hair 32 HP:0002231
29 cleft upper lip 32 HP:0000204
30 atresia of the external auditory canal 32 HP:0000413
31 generalized hyperpigmentation 32 HP:0007440
32 ankyloblepharon 32 HP:0009755
33 absent eyelashes 32 HP:0000561
34 anhidrosis 32 HP:0000970
35 micropenis 32 HP:0000054
36 dystrophic toenail 32 HP:0001810
37 supernumerary nipple 32 HP:0002558
38 dystrophic fingernails 32 HP:0008391
39 submucous cleft hard palate 32 HP:0000176
40 sparse eyelashes 32 HP:0000653
41 2-3 toe syndactyly 32 HP:0004691
42 hyperpigmentation of the skin 32 HP:0000953
43 hyperconvex nail 32 HP:0001795
44 conical tooth 32 HP:0000698
45 lacrimal duct atresia 32 HP:0000564
46 selective tooth agenesis 32 HP:0001592
47 absent lacrimal punctum 32 HP:0001092
48 oval face 32 HP:0000300
49 patchy alopecia 32 HP:0002232
50 submucous cleft soft palate 32 HP:0011819

Drugs & Therapeutics for Hay-Wells Syndrome

Search Clinical Trials , NIH Clinical Center for Hay-Wells Syndrome

Genetic Tests for Hay-Wells Syndrome

Genetic tests related to Hay-Wells Syndrome:

id Genetic test Affiliating Genes
1 Ankyloblepharon-Ectodermal Defects-Cleft Lip/palate 24 TP63

Anatomical Context for Hay-Wells Syndrome

MalaCards organs/tissues related to Hay-Wells Syndrome:

39
Skin

Publications for Hay-Wells Syndrome

Articles related to Hay-Wells Syndrome:

(show all 19)
id Title Authors Year
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

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

66
id Symbol AA change Variation ID SNP ID
1 TP63 p.Leu553Phe VAR_020879 rs121908842
2 TP63 p.Cys561Gly VAR_020881 rs121908843

ClinVar genetic disease variations for Hay-Wells Syndrome:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 TP63 NM_003722.4(TP63): c.1659A> T (p.Leu553Phe) single nucleotide variant Pathogenic rs121908842 GRCh37 Chromosome 3, 189608584: 189608584
2 TP63 NM_003722.4(TP63): c.1681T> G (p.Cys561Gly) single nucleotide variant Pathogenic rs121908843 GRCh37 Chromosome 3, 189608606: 189608606
3 TP63 NM_003722.4(TP63): c.1646T> C (p.Ile549Thr) single nucleotide variant Pathogenic rs121908845 GRCh37 Chromosome 3, 189607267: 189607267
4 TP63 TP63, 11-BP DUP, NT1716 duplication Pathogenic

Expression for Hay-Wells Syndrome

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

Pathways for Hay-Wells Syndrome

GO Terms for Hay-Wells Syndrome

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

id Name GO ID Score Top Affiliating Genes
1 nucleoplasm GO:0005654 9.02 FGFR2 HNRNPAB RACK1 SCAF4 TP63

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

id Name GO ID Score Top Affiliating Genes
1 apoptotic process GO:0006915 9.54 FGFR2 RACK1 TP63
2 animal organ morphogenesis GO:0009887 9.4 FGFR2 TP63
3 epithelial cell differentiation GO:0030855 9.32 FGFR2 TP63
4 epithelial to mesenchymal transition GO:0001837 9.26 FGFR2 HNRNPAB
5 positive regulation of mesenchymal cell proliferation GO:0002053 9.16 FGFR2 TP63
6 hair follicle morphogenesis GO:0031069 8.96 FGFR2 TP63
7 squamous basal epithelial stem cell differentiation involved in prostate gland acinus development GO:0060529 8.62 FGFR2 TP63

Sources for Hay-Wells Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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