AEC
MCID: ANK017
MIFTS: 43

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 57 75
Hay-Wells Syndrome 57 12 53 25 75 13 40
Aec Syndrome 57 12 53 25 75 55
Ankyloblepharon-Ectodermal Defects-Cleft Lip/palate Syndrome 12 53 25 15
Ankyloblepharon-Ectodermal Defects-Cleft Lip and Palate Syndrome 12 25
Aec 57 75
Ankyloblepharon-Ectodermal Defects, Cleft Lip/palate 6
Ankyloblepharon Ectodermal Defects Cleft Lip/palate 53
Ankyloblepharon-Ectodermal Defect-Cleft Lip/palate 75
Rapp-Hodgkin Syndrome 73
Haywells Syndrome 76

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

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


HPO:

32
ankyloblepharon-ectodermal defects-cleft lip/palate:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Ankyloblepharon-Ectodermal Defects-Cleft Lip/palate

NIH Rare Diseases : 53 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 rapp-hodgkin syndrome and choanal atresia, posterior, 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 finger syndactyly and widely spaced teeth

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 : 75 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 : 76 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

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

Symptoms via clinical synopsis from OMIM:

57
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

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

32 (show top 50) (show all 52)
# Description HPO Frequency HPO Source Accession
1 finger syndactyly 32 occasional (7.5%) HP:0006101
2 widely spaced teeth 32 frequent (33%) HP:0000687
3 wide nasal bridge 32 hallmark (90%) HP:0000431
4 coarse hair 32 hallmark (90%) HP:0002208
5 cleft palate 32 HP:0000175
6 micrognathia 32 frequent (33%) HP:0000347
7 palmoplantar keratoderma 32 frequent (33%) HP:0000982
8 nail dystrophy 32 HP:0008404
9 delayed eruption of teeth 32 occasional (7.5%) HP:0000684
10 patent ductus arteriosus 32 HP:0001643
11 hypohidrosis 32 hallmark (90%) HP:0000966
12 hyperconvex fingernails 32 hallmark (90%) HP:0001812
13 protruding ear 32 occasional (7.5%) HP:0000411
14 non-midline cleft lip 32 hallmark (90%) HP:0100335
15 blepharitis 32 HP:0000498
16 hypospadias 32 HP:0000047
17 clinodactyly of the 5th finger 32 occasional (7.5%) HP:0004209
18 hypoplasia of the maxilla 32 HP:0000327
19 abnormality of the voice 32 occasional (7.5%) HP:0001608
20 conductive hearing impairment 32 hallmark (90%) HP:0000405
21 hypotrichosis 32 hallmark (90%) HP:0001006
22 anonychia 32 HP:0001798
23 abnormality of dental enamel 32 frequent (33%) HP:0000682
24 ventricular septal defect 32 occasional (7.5%) HP:0001629
25 abnormality of the nervous system 32 HP:0000707
26 conjunctivitis 32 HP:0000509
27 hypodontia 32 frequent (33%) 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 frequent (33%) HP:0007440
32 ankyloblepharon 32 hallmark (90%) HP:0009755
33 micropenis 32 HP:0000054
34 absent eyelashes 32 HP:0000561
35 anhidrosis 32 HP:0000970
36 dystrophic toenail 32 hallmark (90%) HP:0001810
37 supernumerary nipple 32 occasional (7.5%) HP:0002558
38 dystrophic fingernails 32 hallmark (90%) HP:0008391
39 submucous cleft hard palate 32 frequent (33%) HP:0000176
40 sparse eyelashes 32 frequent (33%) 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 frequent (33%) HP:0000698
45 lacrimal duct atresia 32 HP:0000564
46 selective tooth agenesis 32 HP:0001592
47 absent lacrimal punctum 32 occasional (7.5%) HP:0001092
48 oval face 32 HP:0000300
49 patchy alopecia 32 HP:0002232
50 submucous cleft soft palate 32 frequent (33%) HP:0011819

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:

26
# 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

MGI Mouse Phenotypes related to Ankyloblepharon-Ectodermal Defects-Cleft Lip/palate:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 9.56 FGFR2 RIPK4 SATB2 TP63
2 digestive/alimentary MP:0005381 9.46 FGFR2 RIPK4 SATB2 TP63
3 limbs/digits/tail MP:0005371 9.26 FGFR2 RIPK4 SATB2 TP63
4 respiratory system MP:0005388 8.92 FGFR2 RIPK4 SATB2 TP63

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:

41
Skin

Publications for Ankyloblepharon-Ectodermal Defects-Cleft Lip/palate

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

(show all 33)
# 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
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:

75
# 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 transcription by RNA polymerase II GO:0006366 9.63 SATB2 TP63 ZNF750
2 positive regulation of transcription by RNA polymerase II GO:0045944 9.62 FGFR2 SATB2 TP63 ZNF750
3 animal organ morphogenesis GO:0009887 9.48 FGFR2 TP63
4 epidermis development GO:0008544 9.43 TP63 ZNF750
5 chromatin remodeling GO:0006338 9.4 SATB2 TP63
6 epithelial cell differentiation GO:0030855 9.37 FGFR2 TP63
7 hair follicle morphogenesis GO:0031069 9.26 FGFR2 TP63
8 embryonic pattern specification GO:0009880 9.16 FGFR2 SATB2
9 establishment of skin barrier GO:0061436 8.96 HRNR TP63
10 squamous basal epithelial stem cell differentiation involved in prostate gland acinus development GO:0060529 8.62 FGFR2 TP63

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

# Name GO ID Score Top Affiliating Genes
1 proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific GO:0001077 8.8 SATB2 TP63 ZNF750

Sources for Ankyloblepharon-Ectodermal Defects-Cleft Lip/palate

3 CDC
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9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
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30 HGMD
31 HMDB
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33 ICD10
34 ICD10 via Orphanet
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62 PubMed
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69 SNOMED-CT via HPO
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74 UMLS via Orphanet
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