MCID: ECT042
MIFTS: 23

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 50 68 25 12
 
Eec3 68

Characteristics:

HPO:

62
ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3:
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM50 604292
MedGen35 C1858562

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

About this section
OMIM:50 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 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).

UniProtKB/Swiss-Prot:68 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 syndrome10.0

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

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

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 325

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:

68 (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)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
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet