MCID: ECT042
MIFTS: 35

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

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

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

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46OMIM, 32MalaCards
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MalaCards: Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/palate Syndrome 3, also known as eec syndrome, is related to cleft palate and eec syndrome-1, 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:46 129900,604292

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

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Sources:
46OMIM, 48Orphanet, 60UMLS, 57SNOMED-CT via Orphanet, 26ICD10 via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

48
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 46
eec syndrome 48 46
ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 1 60
ectrodactyly - ectodermal dysplasia - cleft lip/palate 48


External Ids:

SNOMED-CT via Orphanet57 39788007
ICD10 via Orphanet26 Q82.4

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

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17GeneCards, 18GeneDecks
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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 17)
idRelated DiseaseScoreTop Affiliating Genes
1cleft palate10.6
2eec syndrome-110.6
3exstrophy-epispadias complex10.6
4cleft lip10.5
5eec syndrome10.3
6choanal atresia10.2
7breast reconstruction10.0
8diabetes insipidus10.0
9microphthalmia10.0
10adult syndrome10.0
11trigeminal neuralgia10.0
12anodontia10.0
13hypogonadism10.0
14oligohydramnios10.0
15orofacial cleft10.0
16anophthalmia/microphthalmia10.0
17ectrodactyly and ectodermal dysplasia without cleft lip/palate10.0

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



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

Clinical Features for Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/palate...

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46OMIM, 48Orphanet
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Clinical features from OMIM:

129900,604292

Clinical synopsis from OMIM:

129900

Symptoms:

48 (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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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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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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32MalaCards
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MalaCards organs/tissues related to Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/palate Syndrome 3:

32
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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Genetic Variations for Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/palate...

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62UniProtKB/Swiss-Prot
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Genetic disease variations for Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/palate Syndrome 3:

62 (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

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

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1BioGPS, 15Gene 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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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
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet