MCID: ECT042
MIFTS: 25

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

Genetic diseases (common) category

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

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OMIM:47 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, is also known as eec syndrome, and has symptoms including intellectual disability, autosomal dominant inheritance and bladder diverticulum. An important gene associated with Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/palate Syndrome 3 is TP63 (tumor protein p63).

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

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

Name: Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/palate Syndrome 3 47 11 24
 
Eec Syndrome 62


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases (common)


External Ids:

OMIM47 604292

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

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

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Symptoms by clinical synopsis from OMIM:

604292

Clinical features from OMIM:

604292

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

(show all 50)
id Description Frequency HPO Source Accession
1 intellectual disability 7% HP:0001249
2 autosomal dominant inheritance HP:0000006
3 bladder diverticulum HP:0000015
4 cryptorchidism HP:0000028
5 hypogonadotrophic hypogonadism HP:0000044
6 micropenis HP:0000054
7 ureterocele HP:0000070
8 hydroureter HP:0000072
9 vesicoureteral reflux HP:0000076
10 duplicated collecting system HP:0000081
11 renal agenesis HP:0000104
12 renal dysplasia HP:0000110
13 hydronephrosis HP:0000126
14 transverse vaginal septum HP:0000145
15 cleft palate HP:0000175
16 absence of stensen duct HP:0000198
17 cleft upper lip HP:0000204
18 xerostomia HP:0000217
19 malar flattening HP:0000272
20 hypoplasia of the maxilla HP:0000327
21 hearing impairment HP:0000365
22 depressed nasal tip HP:0000437
23 choanal atresia HP:0000453
24 blepharitis HP:0000498
25 sparse eyebrow HP:0000535
26 blepharophimosis HP:0000581
27 photophobia HP:0000613
28 dacrocystitis HP:0000620
29 blue irides HP:0000635
30 sparse eyelashes HP:0000653
31 carious teeth HP:0000670
32 microdontia HP:0000691
33 growth hormone deficiency HP:0000824
34 central diabetes insipidus HP:0000863
35 hyperkeratosis HP:0000962
36 ectodermal dysplasia HP:0000968
37 split hand HP:0001171
38 selective tooth agenesis HP:0001592
39 abnormality of the nasopharynx HP:0001739
40 toe syndactyly HP:0001770
41 nail pits HP:0001803
42 split foot HP:0001839
43 sparse scalp hair HP:0002209
44 sparse axillary hair HP:0002215
45 sparse pubic hair HP:0002225
46 fair hair HP:0002286
47 hypoplastic nipples HP:0002557
48 generalized hypopigmentation HP:0007513
49 nail dystrophy HP:0008404
50 microtia HP:0008551

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

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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

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 324

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

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

64 (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:

7
id Gene Variation 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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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
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Sources for Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/palate...

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4CDC
15ExPASy
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet