AEC
MCID: ANK017
MIFTS: 40

Ankyloblepharon-Ectodermal Defects-Cleft Lip/palate (AEC)

Categories: Endocrine diseases, Genetic diseases, Oral diseases, Rare diseases, Skin diseases

Aliases & Classifications for Ankyloblepharon-Ectodermal Defects-Cleft Lip/palate

MalaCards integrated aliases for Ankyloblepharon-Ectodermal Defects-Cleft Lip/palate:

Name: Ankyloblepharon-Ectodermal Defects-Cleft Lip/palate 58 76 41
Hay-Wells Syndrome 58 12 77 54 26 76 13
Aec Syndrome 58 12 54 26 76 56
Ankyloblepharon-Ectodermal Defects-Cleft Lip/palate Syndrome 12 54 26 15
Ankyloblepharon-Ectodermal Defects-Cleft Lip and Palate Syndrome 12 26
Aec 58 76
Ankyloblepharon-Ectodermal Defects, Cleft Lip/palate 6
Ankyloblepharon Ectodermal Defects Cleft Lip/palate 54
Ankyloblepharon-Ectodermal Defect-Cleft Lip/palate 76
Rapp-Hodgkin Syndrome 74

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

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


HPO:

33
ankyloblepharon-ectodermal defects-cleft lip/palate:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Ankyloblepharon-Ectodermal Defects-Cleft Lip/palate

NIH Rare Diseases : 54 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.

MalaCards based summary : Ankyloblepharon-Ectodermal Defects-Cleft Lip/palate, also known as hay-wells syndrome, is related to wells syndrome and rapp-hodgkin syndrome, and has symptoms including pachyonychia An important gene associated with Ankyloblepharon-Ectodermal Defects-Cleft Lip/palate is TP63 (Tumor Protein P63). Affiliated tissues include skin, and related phenotypes are wide nasal bridge and coarse hair

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

Genetics Home Reference : 26 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 : 76 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.

Wikipedia : 77 Hay–Wells syndrome (also known as AEC syndrome; see Naming) is one of at least 150 known types of... more...

Description from OMIM: 106260

Related Diseases for Ankyloblepharon-Ectodermal Defects-Cleft Lip/palate

Diseases related to Ankyloblepharon-Ectodermal Defects-Cleft Lip/palate via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 21)
# Related Disease Score Top Affiliating Genes
1 wells syndrome 30.8 FGFR2 TP63
2 rapp-hodgkin syndrome 11.6
3 cleft lip 11.1
4 cleft lip/palate 11.1
5 choanal atresia, posterior 10.5
6 tp63-related disorders 10.5
7 ectodermal dysplasia 10.4
8 chromosome 1q21.1 deletion syndrome, 1.35-mb 10.0 RIPK4 TP63
9 ankyloblepharon filiforme adnatum and cleft palate 10.0
10 bartsocas-papas syndrome 10.0 RIPK4 TP63
11 chromosome 2q35 duplication syndrome 10.0 FGFR2 TP63
12 chand syndrome 10.0
13 retinitis pigmentosa 10.0
14 sarcoma 10.0
15 agammaglobulinemia 10.0
16 dermatitis 10.0
17 spindle cell sarcoma 10.0
18 compartment syndrome 10.0
19 lacrimoauriculodentodigital syndrome 9.9 FGFR2 TP63
20 synostosis 9.8 FGFR2 RIPK4
21 cleft palate, isolated 9.8 FGFR2 TP63

Graphical network of the top 20 diseases related to Ankyloblepharon-Ectodermal Defects-Cleft Lip/palate:



Diseases related to Ankyloblepharon-Ectodermal Defects-Cleft Lip/palate

Symptoms & Phenotypes for Ankyloblepharon-Ectodermal Defects-Cleft Lip/palate

Human phenotypes related to Ankyloblepharon-Ectodermal Defects-Cleft Lip/palate:

33 (show top 50) (show all 52)
# Description HPO Frequency HPO Source Accession
1 wide nasal bridge 33 hallmark (90%) HP:0000431
2 coarse hair 33 hallmark (90%) HP:0002208
3 hypohidrosis 33 hallmark (90%) HP:0000966
4 hyperconvex fingernails 33 hallmark (90%) HP:0001812
5 non-midline cleft lip 33 hallmark (90%) HP:0100335
6 conductive hearing impairment 33 hallmark (90%) HP:0000405
7 hypotrichosis 33 hallmark (90%) HP:0001006
8 ankyloblepharon 33 hallmark (90%) HP:0009755
9 dystrophic toenail 33 hallmark (90%) HP:0001810
10 dystrophic fingernails 33 hallmark (90%) HP:0008391
11 widely spaced teeth 33 frequent (33%) HP:0000687
12 micrognathia 33 frequent (33%) HP:0000347
13 palmoplantar keratoderma 33 frequent (33%) HP:0000982
14 abnormality of dental enamel 33 frequent (33%) HP:0000682
15 hypodontia 33 frequent (33%) HP:0000668
16 generalized hyperpigmentation 33 frequent (33%) HP:0007440
17 submucous cleft hard palate 33 frequent (33%) HP:0000176
18 sparse eyelashes 33 frequent (33%) HP:0000653
19 conical tooth 33 frequent (33%) HP:0000698
20 submucous cleft soft palate 33 frequent (33%) HP:0011819
21 sparse and thin eyebrow 33 frequent (33%) HP:0000535
22 finger syndactyly 33 occasional (7.5%) HP:0006101
23 delayed eruption of teeth 33 occasional (7.5%) HP:0000684
24 protruding ear 33 occasional (7.5%) HP:0000411
25 clinodactyly of the 5th finger 33 occasional (7.5%) HP:0004209
26 abnormality of the voice 33 occasional (7.5%) HP:0001608
27 ventricular septal defect 33 occasional (7.5%) HP:0001629
28 supernumerary nipple 33 occasional (7.5%) HP:0002558
29 absent lacrimal punctum 33 occasional (7.5%) HP:0001092
30 cleft palate 33 HP:0000175
31 nail dystrophy 33 HP:0008404
32 patent ductus arteriosus 33 HP:0001643
33 blepharitis 33 HP:0000498
34 hypospadias 33 HP:0000047
35 hypoplasia of the maxilla 33 HP:0000327
36 anonychia 33 HP:0001798
37 abnormality of the nervous system 33 HP:0000707
38 conjunctivitis 33 HP:0000509
39 sparse body hair 33 HP:0002231
40 cleft upper lip 33 HP:0000204
41 atresia of the external auditory canal 33 HP:0000413
42 micropenis 33 HP:0000054
43 absent eyelashes 33 HP:0000561
44 anhidrosis 33 HP:0000970
45 2-3 toe syndactyly 33 HP:0004691
46 hyperpigmentation of the skin 33 HP:0000953
47 hyperconvex nail 33 HP:0001795
48 lacrimal duct atresia 33 HP:0000564
49 selective tooth agenesis 33 HP:0001592
50 oval face 33 HP:0000300

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Teeth:
widely spaced teeth
hypodontia
selective tooth agenesis
conical teeth

Skin Nails Hair Skin:
hyperkeratosis
hyperpigmentation
scalp erosions
red, cracking, peeling skin at birth
palmar and plantar keratoderma
more
Head And Neck Eyes:
blepharitis
conjunctivitis
lacrimal duct atresia
ankyloblepharon filiforme adnatum
sparse to absent eyelashes

Cardiovascular Heart:
ventricular septal defect

Head And Neck Face:
oval face
maxillary hypoplasia

Neurologic Central Nervous System:
normal intelligence

Head And Neck Nose:
broadened nasal bridge

Genitourinary Internal Genitalia Female:
vaginal dryness

Skin Nails Hair Nails:
absent nails
dystrophic nails
hyperconvex nails

Head And Neck Mouth:
cleft palate
cleft lip

Cardiovascular Vascular:
patent ductus arteriosus

Genitourinary External Genitalia Male:
hypospadias
micropenis

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

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

Head And Neck Head:
scalp erosions

Chest Breasts:
supernumerary nipples

Skeletal Feet:
2-3 toe soft tissue syndactyly

Clinical features from OMIM:

106260

UMLS symptoms related to Ankyloblepharon-Ectodermal Defects-Cleft Lip/palate:


pachyonychia

GenomeRNAi Phenotypes related to Ankyloblepharon-Ectodermal Defects-Cleft Lip/palate according to GeneCards Suite gene sharing:

27
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased substrate adherent cell growth GR00193-A-2 9.23 FGFR2 RIPK4
2 Decreased substrate adherent cell growth GR00193-A-3 9.23 FGFR2 RIPK4

Drugs & Therapeutics for Ankyloblepharon-Ectodermal Defects-Cleft Lip/palate

Search Clinical Trials , NIH Clinical Center for Ankyloblepharon-Ectodermal Defects-Cleft Lip/palate

Genetic Tests for Ankyloblepharon-Ectodermal Defects-Cleft Lip/palate

Anatomical Context for Ankyloblepharon-Ectodermal Defects-Cleft Lip/palate

MalaCards organs/tissues related to Ankyloblepharon-Ectodermal Defects-Cleft Lip/palate:

42
Skin

Publications for Ankyloblepharon-Ectodermal Defects-Cleft Lip/palate

Articles related to Ankyloblepharon-Ectodermal Defects-Cleft Lip/palate:

(show all 34)
# Title Authors Year
1
A Case of Ankyloblepharon-ectodermal Defects-cleft Lip/palate-syndrome with Choanal Atresia and Skin Erosions: Phenotypic Variability of TP63-related Disorders. ( 29956718 )
2018
2
Expanding the genetic profile of Hay-Wells syndrome. ( 29329681 )
2018
3
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome. ( 28230601 )
2017
4
A rare form of ankyloblepharon filiforme adnatum associated with the Hay-Wells syndrome and a c.1709T>C mutation on the TP63 gene. ( 29140732 )
2017
5
Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome: a case with a novel p63 mutation associated with abnormal keratohyalin granules. ( 24898013 )
2014
6
Syndrome in question. Hay-Wells syndrome. ( 24770526 )
2014
7
Renal failure in Hay-Wells syndrome. ( 24231488 )
2013
8
Case report: unusual dental morphology in a child with ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome. ( 21806908 )
2011
9
Ectodermal Dysplasia Showing the Clinical Overlap between Hay Wells Syndrome and Bowen Armstrong Syndrome. ( 23056777 )
2011
10
Hay-Wells syndrome of ectodermal dysplasia: A rare autosomal dominant disorder. ( 22346004 )
2011
11
Ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome in monozygotic twins: two cases report and reviews. ( 21299053 )
2010
12
Hay-Wells syndrome: a case report. ( 20520942 )
2010
13
Pathologic changes of skin and hair in ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome. ( 19697429 )
2009
14
International Research Symposium on Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate (AEC) syndrome. ( 19353643 )
2009
15
Clinical lessons learned from the International Research Symposium on Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate (AEC) syndrome. ( 19676057 )
2009
16
Facial clefting and oroauditory pathway manifestations in ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome. ( 19697430 )
2009
17
Proceedings of the International Research Symposium on Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate (AEC) Syndrome, November 8-10, 2006, Houston, Texas, USA. ( 20049983 )
2009
18
Craniofacial and anthropometric phenotype in ankyloblepharon-ectodermal defects-cleft lip/palate syndrome (Hay-Wells syndrome) in a cohort of 17 patients. ( 19676059 )
2009
19
Dermatologic findings of ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome. ( 19681128 )
2009
20
Spectrum of p63 mutations in a selected patient cohort affected with ankyloblepharon-ectodermal defects-cleft lip/palate syndrome (AEC). ( 19676060 )
2009
21
Hay-Wells syndrome in a child with mutation in the TP73L gene. ( 17910675 )
2007
22
Hay-wells syndrome of ectodermal dysplasia. ( 16444073 )
2006
23
The Hay Wells syndrome-derived TAp63alphaQ540L mutant has impaired transcriptional and cell growth regulatory activity. ( 16319531 )
2006
24
Rapp-Hodgkin ectodermal dysplasia syndrome: the clinical and molecular overlap with Hay-Wells syndrome. ( 16532463 )
2006
25
Hay-Wells syndrome (AEC): a case report. ( 16910923 )
2006
26
Head and neck manifestations of Hay-Wells syndrome. ( 15632936 )
2005
27
A neonate with denuded skin: Hay-Wells syndrome. ( 15262880 )
2004
28
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
29
P63 alpha mutations lead to aberrant splicing of keratinocyte growth factor receptor in the Hay-Wells syndrome. ( 12692135 )
2003
30
Bilateral nephroblastoma in familial Hay-Wells syndrome associated with familial reticulate pigmentation of the skin. ( 12116255 )
2002
31
Hay-Wells syndrome is caused by heterozygous missense mutations in the SAM domain of p63. ( 11159940 )
2001
32
What syndrome is this? Ankyloblepharon-ectodermal defects--cleft lip and palate (Hay-Wells) syndrome. ( 9336818 )
1997
33
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome ( 20556892 )
1993
34
Hay-Wells syndrome. ( 3809025 )
1986

Variations for Ankyloblepharon-Ectodermal Defects-Cleft Lip/palate

UniProtKB/Swiss-Prot genetic disease variations for Ankyloblepharon-Ectodermal Defects-Cleft Lip/palate:

76
# 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 Ankyloblepharon-Ectodermal Defects-Cleft Lip/palate:

6
# 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.1659A> T (p.Leu553Phe) single nucleotide variant Pathogenic rs121908842 GRCh38 Chromosome 3, 189890795: 189890795
3 TP63 NM_003722.4(TP63): c.1681T> G (p.Cys561Gly) single nucleotide variant Pathogenic rs121908843 GRCh37 Chromosome 3, 189608606: 189608606
4 TP63 NM_003722.4(TP63): c.1681T> G (p.Cys561Gly) single nucleotide variant Pathogenic rs121908843 GRCh38 Chromosome 3, 189890817: 189890817
5 TP63 NM_003722.4(TP63): c.1646T> C (p.Ile549Thr) single nucleotide variant Pathogenic rs121908845 GRCh37 Chromosome 3, 189607267: 189607267
6 TP63 NM_003722.4(TP63): c.1646T> C (p.Ile549Thr) single nucleotide variant Pathogenic rs121908845 GRCh38 Chromosome 3, 189889478: 189889478
7 TP63 TP63, 11-BP DUP, NT1716 duplication Pathogenic

Expression for Ankyloblepharon-Ectodermal Defects-Cleft Lip/palate

Search GEO for disease gene expression data for Ankyloblepharon-Ectodermal Defects-Cleft Lip/palate.

Pathways for Ankyloblepharon-Ectodermal Defects-Cleft Lip/palate

GO Terms for Ankyloblepharon-Ectodermal Defects-Cleft Lip/palate

Biological processes related to Ankyloblepharon-Ectodermal Defects-Cleft Lip/palate according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 animal organ morphogenesis GO:0009887 9.37 FGFR2 TP63
2 epithelial cell differentiation GO:0030855 9.32 FGFR2 TP63
3 hair follicle morphogenesis GO:0031069 9.26 FGFR2 TP63
4 establishment of skin barrier GO:0061436 9.16 HRNR TP63
5 epidermis development GO:0008544 9.13 KRT83 TP63 ZNF750
6 squamous basal epithelial stem cell differentiation involved in prostate gland acinus development GO:0060529 8.62 FGFR2 TP63

Sources for Ankyloblepharon-Ectodermal Defects-Cleft Lip/palate

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
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31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
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45 MeSH
46 MESH via Orphanet
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50 NCI
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52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
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72 TGDB
73 Tocris
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75 UMLS via Orphanet
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