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

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

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44NIH Rare Diseases, 66Wikipedia, 48OMIM, 20GeneReviews, 34MalaCards
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NIH Rare Diseases:44 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.

Wikipedia:66 Hay?Wells syndrome (also known as AEC syndrome; see Naming) is one of at least 150 known types of... more...

Description from OMIM:48 106260

GeneReviews summary for aec

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

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20GeneReviews, 22Genetics Home Reference, 44NIH Rare Diseases, 46Novoseek, 50Orphanet, 48OMIM, 21GeneTests, 60SNOMED-CT via Orphanet, 27ICD10 via Orphanet, 37MESH via Orphanet, 64UMLS via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

50
hay-wells syndrome:
Inheritance: Autosomal dominant; Age of onset: Neonatal/infancy; Age of death: Normal


Aliases & Descriptions:

ankyloblepharon-ectodermal defects-cleft lip/palate syndrome 20 22
hay-wells syndrome 20 44 22 48 50
aec syndrome 20 44 22 46 50
ankyloblepharon ectodermal defects cleft lip/palate 44 21
ankyloblepharon-ectodermal defects-cleft lip and palate syndrome 22
ankyloblepharon - ectodermal defects - cleft lip/palate 50


External Ids:

SNOMED-CT via Orphanet60 7731005
ICD10 via Orphanet27 Q82.4
OMIM48 106260
MESH via Orphanet37 C535289
UMLS via Orphanet64 C1785148

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

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18GeneCards, 19GeneDecks
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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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48OMIM, 50Orphanet
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Symptoms by clinical synopsis from OMIM:

106260

Clinical features from OMIM:

106260

Symptoms:

50 (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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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-RT
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Approved drugs:

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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/palate21 TP63

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

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34MalaCards
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MalaCards organs/tissues related to Ankyloblepharon-Ectodermal Defects-Cleft Lip/palate Syndrome:

34
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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53PubMed
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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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65UniProtKB/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:

65
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, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Ankyloblepharon-Ectodermal Defects-Cleft Lip/palate Syndrome

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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
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet