MCID: ECT042
MIFTS: 32

Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/palate Syndrome 3 malady

Genetic diseases, Eye diseases, Nephrological diseases, Bone diseases, Skin diseases, Fetal diseases, Rare diseases categories

Summaries for Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/palate...

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48OMIM, 34MalaCards
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MalaCards: Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/palate Syndrome 3, also known as eec syndrome, is related to eec syndrome and ectodermal dysplasia, and has symptoms including fine hair, hypoplastic/absent nipples and syndactyly of fingers/interdigital palm. An important gene associated with Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/palate Syndrome 3 is TP63 (tumor protein p63). Affiliated tissues include skin, breast and kidney.

Description from OMIM:48 129900,604292

Aliases & Classifications for Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/palate...

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Sources:
50Orphanet, 48OMIM, 63UMLS, 60SNOMED-CT via Orphanet, 27ICD10 via Orphanet, 64UMLS via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

50
eec syndrome:
Inheritance: Autosomal dominant; Age of onset: Neonatal/infancy; Age of death: Normal


Aliases & Descriptions:

ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 48
eec syndrome 50 48
ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 1 63
ectrodactyly - ectodermal dysplasia - cleft lip/palate 50


External Ids:

SNOMED-CT via Orphanet60 39788007
ICD10 via Orphanet27 Q82.4
UMLS via Orphanet64 C0406704

Related Diseases for Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/palate...

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18GeneCards, 19GeneDecks
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Diseases related to Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/palate Syndrome 3 via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 25)
idRelated DiseaseScoreTop Affiliating Genes
1eec syndrome11.0
2ectodermal dysplasia10.8
3cleft lip10.5
4cleft palate10.3
5choanal atresia10.2
6breast reconstruction10.0
7diabetes insipidus10.0
8microphthalmia10.0
9anodontia10.0
10adult syndrome10.0
11trigeminal neuralgia10.0
12hypogonadism10.0
13oligohydramnios10.0
14orofacial cleft10.0
15anophthalmia/microphthalmia10.0
16b-cell lymphomas10.0
17ectrodactyly and ectodermal dysplasia without cleft lip/palate10.0
18freire-maia odontotrichomelic syndrome10.0
19hydrops fetalis10.0
20limb-mammary syndrome10.0
21abdominal wall defect10.0
22monosomy 2110.0
23odontotrichomelic syndrome10.0
24split foot10.0
25split hand10.0

Graphical network of the top 20 diseases related to Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/palate Syndrome 3:



Diseases related to ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3

Symptoms for Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/palate...

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48OMIM, 50Orphanet
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Symptoms by clinical synopsis from OMIM:

129900

Clinical features from OMIM:

129900,604292

Symptoms:

50 (show all 50)
  • fine hair
  • hypoplastic/absent nipples
  • syndactyly of fingers/interdigital palm
  • thumb hypoplasia/aplasia/absence
  • breast tissue/mammary gland absence/aplasia
  • sensorineural deafness/hearing loss
  • structural anomalies of inner ear/cochlea/vestible/semicircular canals
  • structural anomalies of middle ear/ossicles/tympanic cavity
  • external ear anomalies
  • cleft palate without cleft lip/submucosal cleft palate/bifid uvula
  • proximally set thumb
  • syndactyly of toes
  • short stature/dwarfism/nanism
  • lymphoma
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • hypothalamic-hypophyseal axis functional anomalies/hypopituitarism
  • hypospadias/epispadias/bent penis
  • vesicorenal/vesicoureteral reflux
  • thymic aplasia/hypoplasia
  • capillary hemangioma/nevus/naevus flammeus/port-wine stain
  • hypohidrosis/decreased sweating/thermoregulation disorder/heat intolerance
  • mouth dryness/xerostomia
  • choanal atresia
  • ectropion/entropion/eyelid eversion
  • dry/squaly skin/exfoliation
  • hyperkeratosis/ainhum/hyperkeratotic skin fissures
  • oligodactyly/ectrodactyly of toes
  • oligodactyly/ectrodactyly of fingers
  • multiple caries
  • enamel anomaly
  • anodontia/oligodontia/hypodontia
  • complete/partial microdontia
  • taurodontia
  • defect/anomaly of lacrimal system
  • thick/bushy eyebrows
  • coarse/thick hair
  • dysplastic/thick/grooved fingernails
  • dysplastic/thick/grooved toenails
  • urethral anomalies/stenosis/posterior urethral valves/megalocystis
  • megaureter/hydronephrosis/pyeloureteral junction syndrome
  • agenesis/hypoplasia/aplasia of kidneys
  • slow growth of the hair
  • diffuse/generalised skin hypopigmentation/cutaneous albinism
  • skin hypoplasia/aplasia/atrophy
  • cleft lip and palate
  • photophobia
  • chronic uveitis/blepharitis/episcleritis/scleritis/conjonctivitis/keratitis
  • corneal ulceration/perforation
  • autosomal dominant inheritance
  • absent/decreased/thin eyebrows

Drugs & Therapeutics for Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/palate...

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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

Search CenterWatch for Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/palate Syndrome 3

Drug clinical trials:

Search ClinicalTrials for Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/palate Syndrome 3

Search NIH Clinical Center for Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/palate Syndrome 3

Search CenterWatch for Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/palate Syndrome 3

Genetic Tests for Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/palate...

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Anatomical Context for Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/palate...

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34MalaCards
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MalaCards organs/tissues related to Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/palate Syndrome 3:

34
Skin, Breast, Kidney, Bone, Eye

Animal Models for Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/palate... or affiliated genes

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Publications for Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/palate...

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Variations for Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/palate...

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Sources:
65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
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UniProtKB/Swiss-Prot genetic disease variations for Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/palate Syndrome 3:

65 (show all 18)
id Symbol AA change Variation ID SNP ID
1TP63p.Arg243GlnVAR_020870
2TP63p.Arg243TrpVAR_020871
3TP63p.Arg318HisVAR_020873
4TP63p.Arg319CysVAR_020874
5TP63p.Arg343GlnVAR_020876
6TP63p.Cys345ArgVAR_020877
7TP63p.Asp351GlyVAR_020878
8TP63p.Arg266GlnVAR_032738
9TP63p.Cys308TyrVAR_032739
10TP63p.Ser311AsnVAR_032740
11TP63p.Arg318CysVAR_032741
12TP63p.Arg318GlnVAR_032742
13TP63p.Arg319HisVAR_032743
14TP63p.Arg319SerVAR_032744
15TP63p.Arg343TrpVAR_032745
16TP63p.Cys347SerVAR_032746
17TP63p.Pro348SerVAR_032747
18TP63p.Asp351HisVAR_032748

Clinvar genetic disease variations for Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/palate Syndrome 3:

1
id Gene Name Type Significance SNP ID Assembly Location
1TP63TP63, ARG227PROsingle nucleotide variantPathogenic
2TP63NM_003722.4(TP63): c.727C> T (p.Arg243Trp)single nucleotide variantPathogenicrs121908835GRCh37Chr 3, 189582168: 189582168
3TP63NM_003722.4(TP63): c.728G> A (p.Arg243Gln)single nucleotide variantPathogenicrs121908836GRCh37Chr 3, 189582169: 189582169
4TP63NM_003722.4(TP63): c.1033T> C (p.Cys345Arg)single nucleotide variantPathogenicrs121908837GRCh37Chr 3, 189586409: 189586409
5TP63TP63, 1-BP INS, 1572AinsertionPathogenic
6TP63NM_003722.4(TP63): c.953G> A (p.Arg318His)single nucleotide variantPathogenicrs121908840GRCh37Chr 3, 189585692: 189585692
7TP63NM_003722.4(TP63): c.1028G> A (p.Arg343Gln)single nucleotide variantPathogenicrs121908841GRCh37Chr 3, 189586404: 189586404
8TP63NM_003722.4(TP63): c.1052A> G (p.Asp351Gly)single nucleotide variantPathogenicrs121908844GRCh37Chr 3, 189586428: 189586428
9TP63NM_003722.4(TP63): c.797G> A (p.Arg266Gln)single nucleotide variantPathogenicrs121908849GRCh37Chr 3, 189584501: 189584501

Expression for genes affiliated with Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/palate...

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2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/palate Syndrome 3

Search GEO for disease gene expression data for Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/palate Syndrome 3.

Pathways for genes affiliated with Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/palate...

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Compounds for genes affiliated with Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/palate...

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GO Terms for genes affiliated with Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/palate...

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Products for genes affiliated with Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/palate...

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/palate...

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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