MCID: ECT042
MIFTS: 20

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

Genetic diseases (common) category

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 45 10 22


Classifications:

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


External Ids:

OMIM45 604292

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

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OMIM:45 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 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).

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 322

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:

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

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

6
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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  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

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
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet