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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21Genetics Home Reference, 43NIH Rare Diseases, 65Wikipedia, 47OMIM, 19GeneReviews, 33MalaCards
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NIH Rare Diseases:43 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: 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 palmoplantar hyperkeratosis/keratoderma, diffuse/generalised skin hyperpigmentation/melanoderma and defect/anomaly of lacrimal system. An important gene associated with Ankyloblepharon-Ectodermal Defects-Cleft Lip/palate Syndrome is TP63 (tumor protein p63). Affiliated tissues include skin, bone and eye.

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:47 106260

GeneReviews summary for aec

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

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19GeneReviews, 21Genetics Home Reference, 43NIH Rare Diseases, 45Novoseek, 49Orphanet, 47OMIM, 20GeneTests, 59SNOMED-CT via Orphanet, 26ICD10 via Orphanet, 36MESH via Orphanet, 63UMLS via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

49
hay-wells syndrome:
Inheritance: Autosomal dominant; Age of onset: Neonatal/infancy; Age of death: Normal


Aliases & Descriptions:

ankyloblepharon-ectodermal defects-cleft lip/palate syndrome 19 21
hay-wells syndrome 19 43 21 47 49
aec syndrome 19 43 21 45 49
ankyloblepharon ectodermal defects cleft lip/palate 43 20
ankyloblepharon-ectodermal defects-cleft lip and palate syndrome 21
ankyloblepharon - ectodermal defects - cleft lip/palate 49


External Ids:

SNOMED-CT via Orphanet59 7731005
ICD10 via Orphanet26 Q82.4
OMIM47 106260
MESH via Orphanet36 C535289
UMLS via Orphanet63 C1785148

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

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17GeneCards, 18GeneDecks
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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 lip10.8
2wells syndrome10.5
3rapp-hodgkin syndrome10.5
4ectodermal dysplasia10.3
5nephroblastoma10.2
6chand syndrome10.1
7zlotogora 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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47OMIM, 49Orphanet
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Symptoms by clinical synopsis from OMIM:

106260

Clinical features from OMIM:

106260

Symptoms:

49 (show all 29)
  • 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
  • enamel anomaly
  • abnormal dentition/dental position/implantation/unerupted/dental ankylosis
  • 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
  • cryptophthalmia/ankyloblepharon/synblepharon

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

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42NIH Clinical Center, 6ClinicalTrials, 62UMLS, 41NDF-RT
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Drug clinical trials:

Search ClinicalTrials for Ankyloblepharon-Ectodermal Defects-Cleft Lip/palate Syndrome

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

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20GeneTests
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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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33MalaCards
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MalaCards organs/tissues related to Ankyloblepharon-Ectodermal Defects-Cleft Lip/palate Syndrome:

33
Skin, Bone, Eye

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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52PubMed
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Articles related to Ankyloblepharon-Ectodermal Defects-Cleft Lip/palate Syndrome:

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

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

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64UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
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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:

1
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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2BioGPS, 15Gene Expression Omnibus DataSets
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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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Sources for Ankyloblepharon-Ectodermal Defects-Cleft Lip/palate Syndrome

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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet