MCID: ANK009
MIFTS: 32

Ankyloblepharon-Ectodermal Defects-Cleft Lip/palate Syndrome malady

Genetic diseases, Rare diseases, Eye diseases, Bone diseases, Skin diseases, Fetal diseases categories
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Summaries for Ankyloblepharon-Ectodermal Defects-Cleft Lip/palate Syndrome

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NIH Rare Diseases:42 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: Ankyloblepharon-Ectodermal Defects-Cleft Lip/palate Syndrome, also known as hay-wells syndrome, is related to cleft lip and wells syndrome, and has symptoms including cryptophthalmia/ankyloblepharon/synblepharon, broad nose/nasal bridge and lateral cleft lip/gingival cleft/paramedian nasal cleft. An important gene associated with Ankyloblepharon-Ectodermal Defects-Cleft Lip/palate Syndrome is TP63 (tumor protein p63). Affiliated tissues include skin, eye and bone.

Genetics Home Reference:21 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.

Wikipedia:65 Hay?Wells syndrome (also known as AEC syndrome; see Naming) is one of at least 150 known types of... more...

Description from OMIM:46 106260

GeneReviews summary for aec

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

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Sources:
19GeneReviews, 42NIH Rare Diseases, 20GeneTests, 21Genetics Home Reference, 46OMIM, 44Novoseek, 48Orphanet, 35MESH via Orphanet, 26ICD10 via Orphanet, 63UMLS via Orphanet
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Ankyloblepharon-Ectodermal Defects-Cleft Lip/palate Syndrome, Aliases & Descriptions:

Name: Ankyloblepharon-Ectodermal Defects-Cleft Lip/palate Syndrome 19 21
Hay-Wells Syndrome 19 42 21 46 48
Aec Syndrome 19 42 21 44 48
 
Ankyloblepharon Ectodermal Defects Cleft Lip/palate 42 20
Ankyloblepharon-Ectodermal Defects-Cleft Lip and Palate Syndrome 21
Ankyloblepharon - Ectodermal Defects - Cleft Lip/palate 48


Classifications:



Characteristics (Orphanet epidemiological data):

48
hay-wells syndrome:
Inheritance: Autosomal dominant; Age of onset: Neonatal/infancy; Age of death: Normal


External Ids:

OMIM46 106260
MESH via Orphanet35 C535289
ICD10 via Orphanet26 Q82.4
UMLS via Orphanet63 C1785148

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

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

idRelated DiseaseScoreTop Affiliating Genes
1cleft lip10.9
2wells syndrome10.6
3rapp-hodgkin syndrome10.5
4ectodermal dysplasia10.4
5nephroblastoma10.2
6chand syndrome10.1

Graphical network of diseases related to Ankyloblepharon-Ectodermal Defects-Cleft Lip/palate Syndrome:



Diseases related to ankyloblepharon-ectodermal defects-cleft lip/palate syndrome

Symptoms for Ankyloblepharon-Ectodermal Defects-Cleft Lip/palate Syndrome

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Symptoms by clinical synopsis from OMIM:

106260

Clinical features from OMIM:

106260

Symptoms:

48 (show all 29)
  • cryptophthalmia/ankyloblepharon/synblepharon
  • broad nose/nasal bridge
  • lateral cleft lip/gingival cleft/paramedian nasal cleft
  • hypohidrosis/decreased sweating/thermoregulation disorder/heat intolerance
  • hypotrichosis/atrichia/atrichiasis/scalp hairlessness
  • coarse/thick hair
  • dysplastic/thick/grooved fingernails
  • dysplastic/thick/grooved toenails
  • autosomal dominant inheritance
  • micrognathia/retrognathia/micrognathism/retrognathism
  • absent/decreased/thin eyebrows
  • absent/decreased lashes
  • cleft palate without cleft lip/submucosal cleft palate/bifid uvula
  • tooth shape anomaly
  • anodontia/oligodontia/hypodontia
  • abnormal dentition/dental position/implantation/unerupted/dental ankylosis
  • enamel anomaly
  • palmoplantar hyperkeratosis/keratoderma
  • diffuse/generalised skin hyperpigmentation/melanoderma
  • defect/anomaly of lacrimal system
  • delayed dentition/eruption of teeth/lack of eruption of teeth
  • prominent/bat ears
  • conductive deafness/hearing loss
  • supernumerary nipples/polythelia
  • syndactyly of fingers/interdigital palm
  • clinodactyly of fifth finger
  • abnormal cry/voice/phonation disorder/nasal speech
  • ventricular septal defect/interventricular communication
  • autosomal recessive inheritance

HPO human phenotypes related to Ankyloblepharon-Ectodermal Defects-Cleft Lip/palate Syndrome:

(show all 59)
id Description Frequency HPO Source Accession
1 abnormality of the nose hallmark (90%) HP:0000366
2 hypohidrosis hallmark (90%) HP:0000966
3 abnormality of the fingernails hallmark (90%) HP:0001231
4 coarse hair hallmark (90%) HP:0002208
5 abnormality of the palpebral fissures hallmark (90%) HP:0008050
6 abnormality of the toenail hallmark (90%) HP:0008388
7 abnormal hair quantity hallmark (90%) HP:0011362
8 non-midline cleft lip hallmark (90%) HP:0100335
9 cleft palate typical (50%) HP:0000175
10 micrognathia typical (50%) HP:0000347
11 abnormality of the eyelashes typical (50%) HP:0000499
12 abnormality of dental enamel typical (50%) HP:0000682
13 palmoplantar keratoderma typical (50%) HP:0000982
14 abnormality of dental morphology typical (50%) HP:0006482
15 generalized hyperpigmentation typical (50%) HP:0007440
16 reduced number of teeth typical (50%) HP:0009804
17 aplasia/hypoplasia of the eyebrow typical (50%) HP:0100840
18 abnormality of the pinna occasional (7.5%) HP:0000377
19 conductive hearing impairment occasional (7.5%) HP:0000405
20 lacrimation abnormality occasional (7.5%) HP:0000632
21 delayed eruption of teeth occasional (7.5%) HP:0000684
22 abnormality of the voice occasional (7.5%) HP:0001608
23 ventricular septal defect occasional (7.5%) HP:0001629
24 supernumerary nipples occasional (7.5%) HP:0002558
25 clinodactyly of the 5th finger occasional (7.5%) HP:0004209
26 finger syndactyly occasional (7.5%) HP:0006101
27 autosomal dominant inheritance HP:0000006
28 hypospadias HP:0000047
29 micropenis HP:0000054
30 cleft palate HP:0000175
31 cleft upper lip HP:0000204
32 oval face HP:0000300
33 hypoplasia of the maxilla HP:0000327
34 conductive hearing impairment HP:0000405
35 atresia of the external auditory canal HP:0000413
36 wide nasal bridge HP:0000431
37 blepharitis HP:0000498
38 conjunctivitis HP:0000509
39 absent eyelashes HP:0000561
40 lacrimal duct atresia HP:0000564
41 sparse eyelashes HP:0000653
42 hypodontia HP:0000668
43 widely spaced teeth HP:0000687
44 conical tooth HP:0000698
45 abnormality of the nervous system HP:0000707
46 hyperpigmentation of the skin HP:0000953
47 anhidrosis HP:0000970
48 palmoplantar keratoderma HP:0000982
49 selective tooth agenesis HP:0001592
50 ventricular septal defect HP:0001629
51 patent ductus arteriosus HP:0001643
52 hyperconvex nail HP:0001795
53 anonychia HP:0001798
54 sparse body hair HP:0002231
55 patchy alopecia HP:0002232
56 supernumerary nipples HP:0002558
57 2-3 toe syndactyly HP:0004691
58 nail dystrophy HP:0008404
59 ankyloblepharon HP:0009755

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

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Drug clinical trials:

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

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Genetic tests related to Ankyloblepharon-Ectodermal Defects-Cleft Lip/palate Syndrome:

id Genetic test Affiliating Genes
1 Ankyloblepharon-Ectodermal Defects-Cleft Lip/palate20 TP63

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

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

32
Skin, Eye, Bone

Animal Models for Ankyloblepharon-Ectodermal Defects-Cleft Lip/palate Syndrome or affiliated genes

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Publications for Ankyloblepharon-Ectodermal Defects-Cleft Lip/palate Syndrome

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

idTitleAuthorsYear
1
Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome: a case with a novel p63 mutation associated with abnormal keratohyalin granules. (24898013)
2014
2
Craniofacial and anthropometric phenotype in ankyloblepharon-ectodermal defects-cleft lip/palate syndrome (Hay-Wells syndrome) in a cohort of 17 patients. (19676059)
2009
3
Spectrum of p63 mutations in a selected patient cohort affected with ankyloblepharon-ectodermal defects-cleft lip/palate syndrome (AEC). (19676060)
2009
4
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome (20556892)
1993

Variations for Ankyloblepharon-Ectodermal Defects-Cleft Lip/palate Syndrome

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

64
id Symbol AA change Variation ID SNP ID
1TP63p.Leu553PheVAR_020879
2TP63p.Cys561GlyVAR_020881

Clinvar genetic disease variations for Ankyloblepharon-Ectodermal Defects-Cleft Lip/palate Syndrome:

6
id Gene Name 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 Ankyloblepharon-Ectodermal Defects-Cleft Lip/palate Syndrome

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Expression patterns in normal tissues for genes affiliated with Ankyloblepharon-Ectodermal Defects-Cleft Lip/palate Syndrome

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

Pathways for genes affiliated with Ankyloblepharon-Ectodermal Defects-Cleft Lip/palate Syndrome

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Compounds for genes affiliated with Ankyloblepharon-Ectodermal Defects-Cleft Lip/palate Syndrome

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GO Terms for genes affiliated with Ankyloblepharon-Ectodermal Defects-Cleft Lip/palate Syndrome

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Products for genes affiliated with Ankyloblepharon-Ectodermal Defects-Cleft Lip/palate Syndrome

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  • Antibodies
  • Proteins
  • Lysates

Sources for Ankyloblepharon-Ectodermal Defects-Cleft Lip/palate Syndrome

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet