MCID: ECT042
MIFTS: 25

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

Category: Genetic diseases (common)

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

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Aliases & Descriptions for Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/palate Syndrome 3:

Name: Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/palate Syndrome 3 52 70 12 68
Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip-Palate Syndrome 3 11 27
 
Eec3 11 70
Eec Syndrome 3 11

Characteristics:

HPO:

64
ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3:
Inheritance: autosomal dominant inheritance

Classifications:



External Ids:

OMIM52 604292
Disease Ontology11 DOID:0060783
ICD1030 Q82.4
MedGen37 C1858562

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

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OMIM:52 Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome-3 (ECC3) is an autosomal dominant disorder comprising... (604292) more...

MalaCards based summary: Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/palate Syndrome 3, also known as ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3, is related to adult syndrome, and has symptoms including intellectual disability, bladder diverticulum and cryptorchidism. An important gene associated with Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/palate Syndrome 3 is TP63 (Tumor Protein P63).

Disease Ontology:11 An EEC syndrome characterized by autosomal dominant inheritance of absence of the central parts of the hands and feet, resulting in split-hand/foot malformation, ectodermal dysplasia, and cleft lip with or without cleft palate that has material basis in heterozygous mutation in the TP63 gene on chromosome 3q28.

UniProtKB/Swiss-Prot:70 Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3: A form of ectodermal dysplasia, a heterogeneous group of disorders due to abnormal development of two or more ectodermal structures. It is an autosomal dominant syndrome characterized by ectrodactyly of hands and feet, ectodermal dysplasia and facial clefting.

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

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

idRelated DiseaseScoreTop Affiliating Genes
1adult syndrome10.9

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

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Symptoms by clinical synopsis from OMIM:

604292

Clinical features from OMIM:

604292

Human phenotypes related to Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/palate Syndrome 3:

 64 (show all 49)
id Description HPO Frequency HPO Source Accession
1 intellectual disability64 7% HP:0001249
2 bladder diverticulum64 HP:0000015
3 cryptorchidism64 HP:0000028
4 hypogonadotrophic hypogonadism64 HP:0000044
5 micropenis64 HP:0000054
6 ureterocele64 HP:0000070
7 hydroureter64 HP:0000072
8 vesicoureteral reflux64 HP:0000076
9 duplicated collecting system64 HP:0000081
10 renal agenesis64 HP:0000104
11 renal dysplasia64 HP:0000110
12 hydronephrosis64 HP:0000126
13 transverse vaginal septum64 HP:0000145
14 cleft palate64 HP:0000175
15 absence of stensen duct64 HP:0000198
16 cleft upper lip64 HP:0000204
17 xerostomia64 HP:0000217
18 malar flattening64 HP:0000272
19 hypoplasia of the maxilla64 HP:0000327
20 hearing impairment64 HP:0000365
21 depressed nasal tip64 HP:0000437
22 choanal atresia64 HP:0000453
23 blepharitis64 HP:0000498
24 sparse and thin eyebrow64 HP:0000535
25 blepharophimosis64 HP:0000581
26 photophobia64 HP:0000613
27 dacryocystitis64 HP:0000620
28 blue irides64 HP:0000635
29 sparse eyelashes64 HP:0000653
30 carious teeth64 HP:0000670
31 microdontia64 HP:0000691
32 growth hormone deficiency64 HP:0000824
33 central diabetes insipidus64 HP:0000863
34 hyperkeratosis64 HP:0000962
35 ectodermal dysplasia64 HP:0000968
36 split hand64 HP:0001171
37 selective tooth agenesis64 HP:0001592
38 abnormality of the nasopharynx64 HP:0001739
39 toe syndactyly64 HP:0001770
40 nail pits64 HP:0001803
41 split foot64 HP:0001839
42 sparse scalp hair64 HP:0002209
43 sparse axillary hair64 HP:0002215
44 sparse pubic hair64 HP:0002225
45 fair hair64 HP:0002286
46 hypoplastic nipples64 HP:0002557
47 generalized hypopigmentation64 HP:0007513
48 nail dystrophy64 HP:0008404
49 microtia64 HP:0008551

UMLS symptoms related to Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/palate Syndrome 3:


photophobia

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

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Interventional clinical trials:

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

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

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Genetic tests related to Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/palate Syndrome 3:

id Genetic test Affiliating Genes
1 Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/palate Syndrome 327

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

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

70 (show all 18)
id Symbol AA change Variation ID SNP ID
1TP63p.Arg243GlnVAR_020870rs121908836
2TP63p.Arg243TrpVAR_020871rs121908835
3TP63p.Arg318HisVAR_020873rs121908840
4TP63p.Arg319CysVAR_020874rs121908839
5TP63p.Arg343GlnVAR_020876rs121908841
6TP63p.Cys345ArgVAR_020877rs121908837
7TP63p.Asp351GlyVAR_020878rs121908844
8TP63p.Arg266GlnVAR_032738rs121908849
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:

5 (show all 11)
id Gene Variation Type Significance SNP ID Assembly Location
1TP63NM_001114978.1(TP63): c.740A> G (p.His247Arg)SNVPathogenicrs864621968GRCh38Chr 3, 189864392: 189864392
2TP63NM_003722.4(TP63): c.1037C> G (p.Ala346Gly)SNVPathogenicrs797044484GRCh37Chr 3, 189586413: 189586413
3TP63TP63, ARG227PROSNVPathogenicChr na, -1: -1
4TP63NM_003722.4(TP63): c.727C> T (p.Arg243Trp)SNVPathogenicrs121908835GRCh37Chr 3, 189582168: 189582168
5TP63NM_003722.4(TP63): c.728G> A (p.Arg243Gln)SNVPathogenicrs121908836GRCh37Chr 3, 189582169: 189582169
6TP63NM_003722.4(TP63): c.1033T> C (p.Cys345Arg)SNVPathogenicrs121908837GRCh37Chr 3, 189586409: 189586409
7TP63TP63, 1-BP INS, 1572AinsertionPathogenicChr na, -1: -1
8TP63NM_003722.4(TP63): c.953G> A (p.Arg318His)SNVPathogenicrs121908840GRCh37Chr 3, 189585692: 189585692
9TP63NM_003722.4(TP63): c.1028G> A (p.Arg343Gln)SNVPathogenicrs121908841GRCh37Chr 3, 189586404: 189586404
10TP63NM_003722.4(TP63): c.1052A> G (p.Asp351Gly)SNVPathogenicrs121908844GRCh37Chr 3, 189586428: 189586428
11TP63NM_003722.4(TP63): c.797G> A (p.Arg266Gln)SNVPathogenicrs121908849GRCh37Chr 3, 189584501: 189584501

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

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

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

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet