MCID: ECT042
MIFTS: 51

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

Categories: Genetic diseases

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

MalaCards integrated aliases for Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/palate Syndrome 3:

Name: Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/palate Syndrome 3 53 71 28 13 69
Eec3 53 12 71
Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip-Palate Syndrome 3 12 14
Eec Syndrome 3 53 12

Characteristics:

OMIM:

53
Inheritance:
autosomal dominant

Miscellaneous:
two loci described - eec1 and eec3
heterogeneous disorder
majority of eec cases appear to be secondary to tp63 mutations
allelic to adult syndrome , split hand/foot malformation 4 , rapp-hodgkin syndrome , hay-wells syndrome , and limb-mammary syndrome


HPO:

31
ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3:
Inheritance autosomal dominant inheritance


Classifications:



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

OMIM : 53 Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome-3 (ECC3) is an autosomal dominant disorder comprising 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 (summary by Maas et al., 1996). Also see EEC1 (129900), which has been mapped to chromosome 7q11. (604292)

MalaCards based summary : Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/palate Syndrome 3, also known as eec3, is related to ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 1 and adult syndrome, and has symptoms including photophobia, malar flattening and intellectual disability. An important gene associated with Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/palate Syndrome 3 is TP63 (Tumor Protein P63), and among its related pathways/superpathways are Class I MHC mediated antigen processing and presentation and Nanog in Mammalian ESC Pluripotency. Affiliated tissues include skin, and related phenotypes are Decreased viability in esophageal squamous lineage and Apoptosis resistance

Disease Ontology : 12 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 : 71 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 Syndrome...

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

(show top 50) (show all 84)
# Related Disease Score Top Affiliating Genes
1 ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 1 32.0 SATB2 TP63
2 adult syndrome 10.9
3 cleft lip/palate-ectodermal dysplasia syndrome 10.3 SATB2 TP63
4 rapp-hodgkin syndrome 10.2 SATB2 TP63 TP73
5 thyroid hurthle cell adenoma 10.2 PIK3CA PTEN
6 squamous cell carcinoma of the oropharynx 10.2 TP53 TP73
7 hemimegalencephaly 10.1 CTNNB1 PIK3CA
8 malignant spiradenoma 10.1 PIK3CA TP53
9 clear cell adenofibroma 10.1 ARID1A PIK3CA
10 periosteal osteogenic sarcoma 10.1 SATB2 TP53
11 endometrioid ovary carcinoma 10.0 ARID1A PPP2R1A PTEN
12 ulcerative stomatitis 10.0 TP53 TP63 TP73
13 synchronous bilateral breast carcinoma 10.0 PTEN TP53
14 ovarian clear cell adenocarcinoma 10.0 ARID1A PIK3CA
15 split-hand/foot malformation 4 10.0 SATB2 TP53 TP63
16 epstein-barr virus-associated gastric carcinoma 10.0 CTNNB1 PIK3CA TP73
17 apocrine adenoma 9.9 KRAS PIK3CA
18 uterine body mixed cancer 9.9 ARID1A PPP2R1A TP53
19 central nervous system organ benign neoplasm 9.9 CTNNB1 TP53
20 aggressive digital papillary adenocarcinoma 9.9 KRAS PIK3CA
21 bladder squamous cell carcinoma 9.9 PTEN TP53
22 nevus, epidermal 9.9 KRAS PIK3CA
23 lung adenoid cystic carcinoma 9.9 KRAS PIK3CA
24 cervical squamous cell carcinoma 9.9 CTNNB1 TP53 TP63
25 undifferentiated pleomorphic sarcoma 9.8 KRAS PIK3CA
26 gliomatosis cerebri 9.8 PTEN TP53
27 papilloma 9.8 PTEN TP53 TP63
28 birt-hogg-dube syndrome 9.8 CTNNB1 PTEN
29 hyperplastic polyposis syndrome 9.8 KRAS TP53
30 mutyh-associated polyposis 9.8 KRAS TP53
31 oligodendroglioma 9.8 PTEN TP53 TP73
32 nasal cavity adenocarcinoma 9.8 KRAS TP53
33 adult hepatocellular carcinoma 9.8 CTNNB1 PIK3CA TP53
34 uterine carcinosarcoma 9.7 CTNNB1 PIK3CA TP53
35 acneiform dermatitis 9.7 KRAS PIK3CA
36 mature teratoma 9.7 KRAS TP53
37 meningioma, familial 9.7 PTEN TP53 TP73
38 thyroid cancer, nonmedullary, 1 9.7 CTNNB1 PIK3CA PTEN
39 female reproductive endometrioid cancer 9.7 CTNNB1 PTEN TP53
40 pulmonary blastoma 9.7 KRAS TP53
41 peutz-jeghers syndrome 9.7 CTNNB1 PTEN TP53
42 reproductive organ cancer 9.7 CTNNB1 PTEN TP53
43 kidney cancer 9.7 PIK3CA PTEN TP53
44 biliary papillomatosis 9.7 KRAS TP53
45 esophageal basaloid squamous cell carcinoma 9.7 CTNNB1 TP53
46 adenosquamous carcinoma 9.6 KRAS TP53 TP63
47 mixed cell type cancer 9.6 KRAS PPP2R1A TP53
48 tumor suppressor gene on chromosome 11 9.6 KRAS PIK3CA PTEN
49 squamous cell carcinoma 9.6 PTEN TP53 TP63 TP73
50 ovary adenocarcinoma 9.6 ARID1A KRAS TP53

Graphical network of the top 20 diseases related to Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/palate Syndrome 3:



Diseases related to Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/palate Syndrome 3

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

Symptoms via clinical synopsis from OMIM:

53
HeadAndNeckEyes:
photophobia
blepharitis
blue irides
blepharophimosis
dacryocystitis
more
SkinNailsHairSkin:
hyperkeratosis
fair skin

GenitourinaryInternalGenitaliaMale:
cryptorchidism
urethral stenosis

RespiratoryNasopharynx:
choanal atresia

ChestBreasts:
hypoplastic nipples

SkeletalFeet:
ectrodactyly
syndactyly
hypophalangy

SkinNailsHairHair:
sparse eyelashes
sparse pubic hair
sparse axillary hair
sparse eyebrows
light colored hair
more
EndocrineFeatures:
growth hormone deficiency
central diabetes insipidus
hypogonadotropic hypogonadism

HeadAndNeckEars:
hearing loss
small ears
malformed auricles

HeadAndNeckNose:
flat nasal tip

NeurologicCentralNervousSystem:
mental retardation (7%)

HeadAndNeckMouth:
cleft palate
xerostomia
cleft lip
absence of stensen duct

HeadAndNeckTeeth:
microdontia
selective tooth agenesis
caries

GenitourinaryUreters:
vesicoureteral reflux
ureterocele
megaureter

GenitourinaryKidneys:
hydronephrosis
renal agenesis
renal dysplasia
duplicated collecting system

SkeletalHands:
ectrodactyly
syndactyly
hypophalangy

GenitourinaryExternalGenitaliaMale:
micropenis

GenitourinaryBladder:
megacystis
bladder diverticula

HeadAndNeckFace:
maxillary hypoplasia
malar hypoplasia

SkinNailsHairNails:
dystrophic nails
pitted nails

GenitourinaryInternalGenitaliaFemale:
transverse vaginal septum


Clinical features from OMIM:

604292

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

31 (show all 50)
# Description HPO Frequency HPO Source Accession
1 photophobia 31 HP:0000613
2 malar flattening 31 HP:0000272
3 intellectual disability 31 very rare (1%) HP:0001249
4 hearing impairment 31 HP:0000365
5 carious teeth 31 HP:0000670
6 microtia 31 HP:0008551
7 cleft palate 31 HP:0000175
8 hyperkeratosis 31 HP:0000962
9 nail dystrophy 31 HP:0008404
10 microdontia 31 HP:0000691
11 cryptorchidism 31 HP:0000028
12 hypogonadotrophic hypogonadism 31 HP:0000044
13 blepharitis 31 HP:0000498
14 hypoplasia of the maxilla 31 HP:0000327
15 blue irides 31 HP:0000635
16 xerostomia 31 HP:0000217
17 vesicoureteral reflux 31 HP:0000076
18 choanal atresia 31 HP:0000453
19 sparse scalp hair 31 HP:0002209
20 generalized hypopigmentation 31 HP:0007513
21 split hand 31 HP:0001171
22 bladder diverticulum 31 HP:0000015
23 blepharophimosis 31 HP:0000581
24 toe syndactyly 31 HP:0001770
25 cleft upper lip 31 HP:0000204
26 hydronephrosis 31 HP:0000126
27 hydroureter 31 HP:0000072
28 hypoplastic nipples 31 HP:0002557
29 depressed nasal tip 31 HP:0000437
30 ectrodactyly 31 HP:0100257
31 nail pits 31 HP:0001803
32 micropenis 31 HP:0000054
33 renal agenesis 31 HP:0000104
34 sparse eyelashes 31 HP:0000653
35 dacryocystitis 31 HP:0000620
36 sparse pubic hair 31 HP:0002225
37 sparse axillary hair 31 HP:0002215
38 renal dysplasia 31 HP:0000110
39 split foot 31 HP:0001839
40 ureterocele 31 HP:0000070
41 duplicated collecting system 31 HP:0000081
42 growth hormone deficiency 31 HP:0000824
43 ectodermal dysplasia 31 HP:0000968
44 selective tooth agenesis 31 HP:0001592
45 central diabetes insipidus 31 HP:0000863
46 fair hair 31 HP:0002286
47 absence of stensen duct 31 HP:0000198
48 transverse vaginal septum 31 HP:0000145
49 abnormality of the nasopharynx 31 HP:0001739
50 sparse and thin eyebrow 31 HP:0000535

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


photophobia

GenomeRNAi Phenotypes related to Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/palate Syndrome 3 according to GeneCards Suite gene sharing:

25
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability in esophageal squamous lineage GR00235-A 9.56 ARID1A CTNNB1 KRAS PIK3CA PTEN SATB2
2 Apoptosis resistance GR00093-A-0 9.33 PPP2R1A PPP2R5C PTEN
3 Increased cell death HMECs cells GR00103-A-0 9.02 CTNNB1 PIK3CA PPP2R1A PTEN TP53

MGI Mouse Phenotypes related to Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/palate Syndrome 3:

43 (show all 25)
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.27 KRAS CTNNB1 ARID1A PTEN PIK3CA SATB2
2 growth/size/body region MP:0005378 10.27 KRAS CTNNB1 ARID1A PPP2R1A PTEN PIK3CA
3 cellular MP:0005384 10.26 CTNNB1 ARID1A PIK3CA KRAS PTEN TP53
4 embryo MP:0005380 10.24 ARID1A KRAS CTNNB1 PTEN PIK3CA SATB2
5 endocrine/exocrine gland MP:0005379 10.24 CTNNB1 ARID1A KRAS PTEN PIK3CA SATB2
6 behavior/neurological MP:0005386 10.22 CTNNB1 PTEN PIK3CA PPP2R1A KRAS TP63
7 homeostasis/metabolism MP:0005376 10.21 CTNNB1 ARID1A PTEN PIK3CA PPP2R1A KRAS
8 mortality/aging MP:0010768 10.21 KRAS CTNNB1 ARID1A PIK3CA PPP2R1A PTEN
9 craniofacial MP:0005382 10.15 KRAS CTNNB1 ARID1A SATB2 TP63 TP53
10 immune system MP:0005387 10.15 CTNNB1 ARID1A PTEN PIK3CA KRAS TP63
11 digestive/alimentary MP:0005381 10.14 KRAS CTNNB1 PTEN TP53 SATB2 TP63
12 neoplasm MP:0002006 10.13 ARID1A KRAS CTNNB1 PPP2R1A PTEN PIK3CA
13 nervous system MP:0003631 10.06 CTNNB1 ARID1A PTEN PIK3CA KRAS TP53
14 muscle MP:0005369 10.04 KRAS CTNNB1 ARID1A PTEN PIK3CA TP53
15 integument MP:0010771 10.01 CTNNB1 PTEN PIK3CA KRAS TP53 TP63
16 limbs/digits/tail MP:0005371 10 CTNNB1 KRAS PTEN TP63 TP53 SATB2
17 hearing/vestibular/ear MP:0005377 9.97 CTNNB1 ARID1A KRAS TP53 TP73
18 normal MP:0002873 9.95 CTNNB1 ARID1A KRAS PPP2R1A PTEN TP63
19 reproductive system MP:0005389 9.92 KRAS CTNNB1 ARID1A PTEN PIK3CA TP53
20 no phenotypic analysis MP:0003012 9.91 CTNNB1 ARID1A PIK3CA KRAS TP63 TP53
21 skeleton MP:0005390 9.81 CTNNB1 ARID1A KRAS PTEN PIK3CA SATB2
22 respiratory system MP:0005388 9.8 KRAS CTNNB1 PTEN SATB2 TP63 TP53
23 pigmentation MP:0001186 9.67 CTNNB1 PTEN KRAS TP53
24 vision/eye MP:0005391 9.23 CTNNB1 ARID1A KRAS PTEN PIK3CA TP63
25 taste/olfaction MP:0005394 9.13 CTNNB1 PTEN TP63

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

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

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

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

# Genetic test Affiliating Genes
1 Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/palate Syndrome 3 28 TP63

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

MalaCards organs/tissues related to Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/palate Syndrome 3:

38
Skin

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

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

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

71 (show all 18)
# Symbol AA change Variation ID SNP ID
1 TP63 p.Arg243Gln VAR_020870 rs121908836
2 TP63 p.Arg243Trp VAR_020871 rs121908835
3 TP63 p.Arg318His VAR_020873 rs121908840
4 TP63 p.Arg319Cys VAR_020874 rs121908839
5 TP63 p.Arg343Gln VAR_020876 rs121908841
6 TP63 p.Cys345Arg VAR_020877 rs121908837
7 TP63 p.Asp351Gly VAR_020878 rs121908844
8 TP63 p.Arg266Gln VAR_032738 rs121908849
9 TP63 p.Cys308Tyr VAR_032739
10 TP63 p.Ser311Asn VAR_032740
11 TP63 p.Arg318Cys VAR_032741
12 TP63 p.Arg318Gln VAR_032742
13 TP63 p.Arg319His VAR_032743 rs886039442
14 TP63 p.Arg319Ser VAR_032744
15 TP63 p.Arg343Trp VAR_032745 rs886041251
16 TP63 p.Cys347Ser VAR_032746
17 TP63 p.Pro348Ser VAR_032747
18 TP63 p.Asp351His VAR_032748

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

6 (show all 11)
# Gene Variation Type Significance SNP ID Assembly Location
1 TP63 TP63, ARG227PRO single nucleotide variant Pathogenic
2 TP63 NM_003722.4(TP63): c.727C> T (p.Arg243Trp) single nucleotide variant Pathogenic rs121908835 GRCh37 Chromosome 3, 189582168: 189582168
3 TP63 NM_003722.4(TP63): c.728G> A (p.Arg243Gln) single nucleotide variant Pathogenic rs121908836 GRCh37 Chromosome 3, 189582169: 189582169
4 TP63 NM_003722.4(TP63): c.1033T> C (p.Cys345Arg) single nucleotide variant Pathogenic rs121908837 GRCh37 Chromosome 3, 189586409: 189586409
5 TP63 TP63, 1-BP INS, 1572A insertion Pathogenic
6 TP63 NM_003722.4(TP63): c.953G> A (p.Arg318His) single nucleotide variant Pathogenic rs121908840 GRCh37 Chromosome 3, 189585692: 189585692
7 TP63 NM_003722.4(TP63): c.1028G> A (p.Arg343Gln) single nucleotide variant Pathogenic rs121908841 GRCh37 Chromosome 3, 189586404: 189586404
8 TP63 NM_003722.4(TP63): c.1052A> G (p.Asp351Gly) single nucleotide variant Pathogenic rs121908844 GRCh37 Chromosome 3, 189586428: 189586428
9 TP63 NM_003722.4(TP63): c.797G> A (p.Arg266Gln) single nucleotide variant Pathogenic rs121908849 GRCh37 Chromosome 3, 189584501: 189584501
10 TP63 NM_001114978.1(TP63): c.740A> G (p.His247Arg) single nucleotide variant Pathogenic rs864621968 GRCh38 Chromosome 3, 189864392: 189864392
11 TP63 NM_003722.4(TP63): c.1037C> G (p.Ala346Gly) single nucleotide variant Pathogenic rs797044484 GRCh37 Chromosome 3, 189586413: 189586413

Expression for Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/palate Syndrome...

Search GEO for disease gene expression data for Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/palate Syndrome 3.

Pathways for Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/palate Syndrome...

Pathways related to Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/palate Syndrome 3 according to GeneCards Suite gene sharing:

(show top 50) (show all 65)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.35 KRAS PIK3CA PPP2R1A PPP2R5C PTEN TP53
2
Show member pathways
13.18 CTNNB1 KRAS PPP2R1A PPP2R5C TP73
3
Show member pathways
13.03 PIK3CA PPP2R1A PPP2R5C PTEN TP53
4
Show member pathways
12.96 CTNNB1 KRAS PIK3CA PTEN TP53
5
Show member pathways
12.83 CTNNB1 KRAS PPP2R1A PPP2R5C PTEN
6
Show member pathways
12.82 PPP2R1A PPP2R5C PTEN TP53 TP63 TP73
7 12.74 CTNNB1 KRAS PIK3CA PTEN TP53
8
Show member pathways
12.73 CTNNB1 KRAS PPP2R1A PPP2R5C
9
Show member pathways
12.71 KRAS PIK3CA TP53 TP63 TP73
10
Show member pathways
12.69 KRAS PIK3CA PPP2R1A PPP2R5C
11
Show member pathways
12.59 CTNNB1 KRAS PIK3CA PTEN
12
Show member pathways
12.59 KRAS PPP2R1A PPP2R5C TP53
13
Show member pathways
12.58 ARID1A CTNNB1 KRAS PIK3CA PTEN TP53
14
Show member pathways
12.52 CTNNB1 KRAS PIK3CA PPP2R1A PPP2R5C PTEN
15
Show member pathways
12.51 CTNNB1 KRAS PIK3CA TP53
16
Show member pathways
12.48 CTNNB1 PPP2R1A PPP2R5C TP53
17
Show member pathways
12.45 CTNNB1 KRAS PIK3CA PTEN TP53
18 12.44 PPP2R1A TP53 TP63 TP73
19
Show member pathways
12.44 KRAS PIK3CA PPP2R1A PPP2R5C PTEN TP53
20
Show member pathways
12.42 KRAS PIK3CA PTEN TP53
21
Show member pathways
12.41 CTNNB1 KRAS PIK3CA TP53
22
Show member pathways
12.38 CTNNB1 KRAS PIK3CA TP53
23
Show member pathways
12.36 PIK3CA PPP2R1A PPP2R5C TP53
24
Show member pathways
12.36 CTNNB1 KRAS PIK3CA PTEN TP53 TP73
25 12.35 CTNNB1 KRAS PIK3CA TP53
26 12.35 KRAS PIK3CA PTEN TP53 TP63
27
Show member pathways
12.27 KRAS PIK3CA PPP2R1A PPP2R5C
28 12.21 CTNNB1 KRAS PIK3CA TP53
29
Show member pathways
12.15 KRAS PIK3CA PTEN TP53
30
Show member pathways
12.13 CTNNB1 PIK3CA PPP2R1A PPP2R5C
31 12.12 CTNNB1 KRAS TP53
32
Show member pathways
12.11 KRAS PIK3CA TP53
33 12.09 CTNNB1 PPP2R1A TP73
34 12.09 KRAS PIK3CA PTEN TP53
35
Show member pathways
12.08 KRAS PIK3CA TP53
36
Show member pathways
12.07 KRAS PIK3CA PTEN
37
Show member pathways
12.07 KRAS PIK3CA TP53
38 12.06 CTNNB1 KRAS PTEN TP53
39
Show member pathways
12.05 CTNNB1 PIK3CA PTEN
40 12.03 CTNNB1 PIK3CA TP53
41 12.03 CTNNB1 KRAS PIK3CA
42
Show member pathways
12.02 KRAS PIK3CA PTEN
43 12 KRAS PTEN TP53
44 11.98 KRAS PIK3CA PTEN
45 11.98 PTEN TP53 TP63 TP73
46 11.97 KRAS PIK3CA PPP2R1A TP53
47
Show member pathways
11.96 TP53 TP63 TP73
48
Show member pathways
11.96 KRAS PPP2R1A PPP2R5C
49 11.9 CTNNB1 PPP2R1A PPP2R5C
50
Show member pathways
11.89 TP53 TP63 TP73

GO Terms for Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/palate Syndrome...

Cellular components related to Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/palate Syndrome 3 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytosol GO:0005829 9.81 CTNNB1 KRAS PIK3CA PPP2R1A PPP2R5C PTEN
2 mitochondrion GO:0005739 9.73 KRAS PPP2R1A PTEN TP53 TP63 TP73
3 nucleoplasm GO:0005654 9.56 ARID1A CTNNB1 PPP2R5C PTEN SATB2 TP53
4 protein phosphatase type 2A complex GO:0000159 9.32 PPP2R1A PPP2R5C
5 transcription factor complex GO:0005667 9.02 CTNNB1 SATB2 TP53 TP63 TP73

Biological processes related to Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/palate Syndrome 3 according to GeneCards Suite gene sharing:

(show all 39)
# Name GO ID Score Top Affiliating Genes
1 apoptotic process GO:0006915 9.96 PPP2R1A PTEN TP53 TP63 TP73
2 negative regulation of cell proliferation GO:0008285 9.93 CTNNB1 PPP2R5C PTEN TP53
3 transcription by RNA polymerase II GO:0006366 9.92 CTNNB1 SATB2 TP53 TP63 TP73
4 positive regulation of gene expression GO:0010628 9.91 CTNNB1 KRAS PTEN TP53
5 cell proliferation GO:0008283 9.9 CTNNB1 PTEN TP53 TP63
6 positive regulation of transcription, DNA-templated GO:0045893 9.89 ARID1A CTNNB1 TP53 TP63 TP73
7 positive regulation of apoptotic process GO:0043065 9.88 CTNNB1 PTEN TP53 TP73
8 response to drug GO:0042493 9.88 CTNNB1 PTEN TP53 TP73
9 regulation of apoptotic process GO:0042981 9.85 CTNNB1 TP53 TP63 TP73
10 negative regulation of transcription by RNA polymerase II GO:0000122 9.85 ARID1A CTNNB1 SATB2 TP53 TP63 TP73
11 aging GO:0007568 9.83 PTEN TP53 TP63
12 negative regulation of neuron apoptotic process GO:0043524 9.8 KRAS PIK3CA TP73
13 regulation of signal transduction by p53 class mediator GO:1901796 9.8 TP53 TP63 TP73
14 regulation of gene expression GO:0010468 9.78 CTNNB1 PIK3CA SATB2 TP73
15 chromatin remodeling GO:0006338 9.74 ARID1A SATB2 TP63
16 embryonic hindlimb morphogenesis GO:0035116 9.68 CTNNB1 TP63
17 cell aging GO:0007569 9.68 TP53 TP63
18 positive regulation of apoptotic signaling pathway GO:2001235 9.67 PTEN TP63
19 positive regulation of mesenchymal cell proliferation GO:0002053 9.67 CTNNB1 TP63
20 positive regulation of cell cycle arrest GO:0071158 9.67 TP53 TP73
21 hair follicle morphogenesis GO:0031069 9.66 CTNNB1 TP63
22 vasculature development GO:0001944 9.65 CTNNB1 PIK3CA
23 proximal/distal pattern formation GO:0009954 9.65 CTNNB1 TP63
24 negative regulation of cardiac muscle cell proliferation GO:0060044 9.64 PTEN TP73
25 cellular response to UV GO:0034644 9.63 TP53 TP63 TP73
26 epithelial tube branching involved in lung morphogenesis GO:0060441 9.62 CTNNB1 KRAS
27 response to inorganic substance GO:0010035 9.61 PTEN TP53
28 protein tetramerization GO:0051262 9.61 TP53 TP63 TP73
29 regulation of synaptic transmission, GABAergic GO:0032228 9.59 KRAS PTEN
30 response to gamma radiation GO:0010332 9.58 TP53 TP63 TP73
31 chromatin-mediated maintenance of transcription GO:0048096 9.54 ARID1A CTNNB1
32 cranial skeletal system development GO:1904888 9.51 CTNNB1 TP63
33 positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway GO:1900740 9.5 TP53 TP63 TP73
34 intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator GO:0042771 9.43 TP53 TP63 TP73
35 response to X-ray GO:0010165 9.33 TP53 TP63 TP73
36 DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator GO:0006978 9.13 TP53 TP63 TP73
37 mitotic G1 DNA damage checkpoint GO:0031571 8.8 TP53 TP63 TP73
38 regulation of transcription, DNA-templated GO:0006355 10.19 ARID1A CTNNB1 PPP2R1A SATB2 TP53 TP63
39 positive regulation of transcription by RNA polymerase II GO:0045944 10.06 CTNNB1 SATB2 TP53 TP63 TP73

Molecular functions related to Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/palate Syndrome 3 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein kinase binding GO:0019901 9.67 CTNNB1 PTEN TP53 TP73
2 p53 binding GO:0002039 9.5 TP53 TP63 TP73
3 transcription regulatory region DNA binding GO:0044212 9.46 CTNNB1 TP53 TP63 TP73
4 damaged DNA binding GO:0003684 9.43 TP53 TP63 TP73
5 chromatin binding GO:0003682 9.35 CTNNB1 SATB2 TP53 TP63 TP73
6 MDM2/MDM4 family protein binding GO:0097371 8.8 TP53 TP63 TP73
7 protein binding GO:0005515 10.14 ARID1A CTNNB1 KRAS PIK3CA PPP2R1A PPP2R5C

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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