MCID: HYW001
MIFTS: 36

Hay-Wells Syndrome

Categories: Genetic diseases, Rare diseases

Aliases & Classifications for Hay-Wells Syndrome

MalaCards integrated aliases for Hay-Wells Syndrome:

Name: Hay-Wells Syndrome 54 12 50 24 25 71 13
Aec Syndrome 12 50 24 25 71 52
Ankyloblepharon-Ectodermal Defects-Cleft Lip/palate Syndrome 12 50 25
Ankyloblepharon-Ectodermal Defects-Cleft Lip and Palate Syndrome 12 25
Ankyloblepharon-Ectodermal Defects-Cleft Lip/palate 24 71
Rapp-Hodgkin Syndrome 42 69
Ankyloblepharon Ectodermal Defects Cleft Lip/palate 50
Ankyloblepharon-Ectodermal Defect-Cleft Lip/palate 71
Aec 71

Characteristics:

OMIM:

54
Inheritance:
autosomal dominant

Miscellaneous:
allelic to eec3 , shfm4 , adult syndrome , limb-mammary syndrome , and rapp-hodgkin syndrome


HPO:

32
hay-wells syndrome:
Inheritance autosomal dominant inheritance


Classifications:



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 palmoplantar keratoderma, micrognathia and micropenis. An important gene associated with Hay-Wells Syndrome is TP63 (Tumor Protein P63). Affiliated tissues include skin.

Disease Ontology : 12 An autosomal dominant disease characterized by autosomal dominant inheritance in tissues arising from the ectoderm including

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 : 71 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:

id Related Disease Score Top Affiliating Genes
1 rapp-hodgkin syndrome 11.3
2 wells syndrome 10.5
3 ectodermal dysplasia 10.1
4 cleft lip 10.0
5 myasthenic syndrome, congenital, 2a, slow-channel 9.9 FGFR2 TP63
6 cleft lip/palate 9.8
7 simosa craniofacial syndrome 9.8 FGFR2 TP63
8 thanatophoric dysplasia, type ii 9.6 FGFR2 TP63
9 adult syndrome 8.0 FGFR2 HNRNPAB RACK1 SCAF4 TP63
10 whistling face syndrome, recessive form 7.9 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 via clinical synopsis from OMIM:

54

Skin Nails & Hair- Nails:
dystrophic nails
hyperconvex nails
absent nails

Head And Neck- Mouth:
cleft palate
cleft lip

Head And Neck- Face:
maxillary hypoplasia
oval face

Head And Neck- Ears:
conductive hearing loss
atretic external auditory canal
cup-shaped auricles

Neurologic- Central Nervous System:
normal intelligence

Skin Nails & Hair- Hair:
patchy alopecia
sparse to absent eyelashes
wiry, sparse hair
sparse body hair

Head And Neck- Head:
scalp erosions

Chest- Breasts:
supernumerary nipples

Skeletal- Feet:
2-3 toe soft tissue syndactyly

Genitourinary- External Genitalia Male:
micropenis
hypospadias

Cardiovascular- Vascular:
patent ductus arteriosus

Cardiovascular- Heart:
ventricular septal defect

Skin Nails & Hair- Skin:
hyperkeratosis
hyperpigmentation
scalp erosions
red, cracking, peeling skin at birth
palmar and plantar keratoderma
more
Head And Neck- Teeth:
hypodontia
widely spaced teeth
conical teeth
selective tooth agenesis

Head And Neck- Eyes:
sparse to absent eyelashes
conjunctivitis
blepharitis
ankyloblepharon filiforme adnatum
lacrimal duct atresia

Head And Neck- Nose:
broadened nasal bridge

Genitourinary- Internal Genitalia Female:
vaginal dryness


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 palmoplantar keratoderma 32 frequent (33%) HP:0000982
2 micrognathia 32 frequent (33%) HP:0000347
3 micropenis 32 HP:0000054
4 anhidrosis 32 HP:0000970
5 cleft palate 32 HP:0000175
6 patent ductus arteriosus 32 HP:0001643
7 hypospadias 32 HP:0000047
8 ventricular septal defect 32 occasional (7.5%) HP:0001629
9 wide nasal bridge 32 hallmark (90%) HP:0000431
10 absent eyelashes 32 HP:0000561
11 finger syndactyly 32 occasional (7.5%) HP:0006101
12 hypodontia 32 frequent (33%) HP:0000668
13 patchy alopecia 32 HP:0002232
14 coarse hair 32 hallmark (90%) HP:0002208
15 widely spaced teeth 32 frequent (33%) HP:0000687
16 sparse eyelashes 32 frequent (33%) HP:0000653
17 conjunctivitis 32 HP:0000509
18 hypohidrosis 32 hallmark (90%) HP:0000966
19 hypotrichosis 32 hallmark (90%) HP:0001006
20 anonychia 32 HP:0001798
21 nail dystrophy 32 HP:0008404
22 selective tooth agenesis 32 HP:0001592
23 blepharitis 32 HP:0000498
24 oval face 32 HP:0000300
25 lacrimal duct atresia 32 HP:0000564
26 sparse body hair 32 HP:0002231
27 hyperconvex fingernails 32 hallmark (90%) HP:0001812
28 2-3 toe syndactyly 32 HP:0004691
29 dystrophic fingernails 32 hallmark (90%) HP:0008391
30 delayed eruption of teeth 32 occasional (7.5%) HP:0000684
31 ankyloblepharon 32 hallmark (90%) HP:0009755
32 supernumerary nipple 32 occasional (7.5%) HP:0002558
33 submucous cleft hard palate 32 frequent (33%) HP:0000176
34 protruding ear 32 occasional (7.5%) HP:0000411
35 non-midline cleft lip 32 hallmark (90%) HP:0100335
36 clinodactyly of the 5th finger 32 occasional (7.5%) HP:0004209
37 hypoplasia of the maxilla 32 HP:0000327
38 abnormality of the voice 32 occasional (7.5%) HP:0001608
39 conductive hearing impairment 32 hallmark (90%) HP:0000405
40 abnormality of dental enamel 32 frequent (33%) HP:0000682
41 abnormality of the nervous system 32 HP:0000707
42 cleft upper lip 32 HP:0000204
43 atresia of the external auditory canal 32 HP:0000413
44 generalized hyperpigmentation 32 frequent (33%) HP:0007440
45 dystrophic toenail 32 hallmark (90%) HP:0001810
46 hyperpigmentation of the skin 32 HP:0000953
47 hyperconvex nail 32 HP:0001795
48 conical tooth 32 frequent (33%) HP:0000698
49 absent lacrimal punctum 32 occasional (7.5%) HP:0001092
50 submucous cleft soft palate 32 frequent (33%) HP:0011819

UMLS symptoms related to Hay-Wells Syndrome:


pachyonychia

Drugs & Therapeutics for Hay-Wells Syndrome

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

Cochrane evidence based reviews: rapp-hodgkin 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
Hay-Wells syndrome (AEC): a case report. ( 16910923 )
2006
9
The Hay Wells syndrome-derived TAp63alphaQ540L mutant has impaired transcriptional and cell growth regulatory activity. ( 16319531 )
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
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

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

71
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 HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....