MCID: ECT042
MIFTS: 24

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

Category: Genetic diseases (common)

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

About this section

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

Name: Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/palate Syndrome 3 49 11 67 24 65
 
Eec3 67

Characteristics:

HPO:

61
ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3:
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM49 604292
MedGen34 C1858562
UMLS65 C1858562

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

About this section
OMIM:49 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 eec3, is related to adult syndrome and eec syndrome, and has symptoms including intellectual disability, microtia and nail dystrophy. An important gene associated with Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/palate Syndrome 3 is TP63 (Tumor Protein P63).

UniProtKB/Swiss-Prot:67 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...

About this section

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 syndrome10.3
2eec syndrome10.3

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

About this section

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

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

About this section

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...

About this section

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

About this section

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

About this section

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

About this section

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

About this section

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

67 (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:

5 (show all 11)
id Gene Variation Type Significance SNP ID Assembly Location
1TP63NM_001114978.1(TP63): c.740A> G (p.His247Arg)single nucleotide variantPathogenicrs864621968GRCh38Chr 3, 189864392: 189864392
2TP63NM_003722.4(TP63): c.1037C> G (p.Ala346Gly)single nucleotide variantPathogenicrs797044484GRCh37Chr 3, 189586413: 189586413
3TP63TP63, ARG227PROsingle nucleotide variantPathogenic
4TP63NM_003722.4(TP63): c.727C> T (p.Arg243Trp)single nucleotide variantPathogenicrs121908835GRCh37Chr 3, 189582168: 189582168
5TP63NM_003722.4(TP63): c.728G> A (p.Arg243Gln)single nucleotide variantPathogenicrs121908836GRCh37Chr 3, 189582169: 189582169
6TP63NM_003722.4(TP63): c.1033T> C (p.Cys345Arg)single nucleotide variantPathogenicrs121908837GRCh37Chr 3, 189586409: 189586409
7TP63TP63, 1-BP INS, 1572AinsertionPathogenic
8TP63NM_003722.4(TP63): c.953G> A (p.Arg318His)single nucleotide variantPathogenicrs121908840GRCh37Chr 3, 189585692: 189585692
9TP63NM_003722.4(TP63): c.1028G> A (p.Arg343Gln)single nucleotide variantPathogenicrs121908841GRCh37Chr 3, 189586404: 189586404
10TP63NM_003722.4(TP63): c.1052A> G (p.Asp351Gly)single nucleotide variantPathogenicrs121908844GRCh37Chr 3, 189586428: 189586428
11TP63NM_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...

About this section
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...

About this section

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

About this section

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

About this section
2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet