MCID: ECT042
MIFTS: 50

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 57 75 29 13 6 40 73
Eec3 57 12 75
Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip-Palate Syndrome 3 12 15
Eec Syndrome 3 57 12

Characteristics:

OMIM:

57
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:

32
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 : 57 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 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 bladder diverticulum and cryptorchidism

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 : 75 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 113)
# Related Disease Score Top Affiliating Genes
1 ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 1 32.4 SATB2 TP63
2 adult syndrome 10.9
3 endometrioid ovary carcinoma 10.6 ARID1A PPP2R1A
4 cleft lip/palate-ectodermal dysplasia syndrome 10.5 SATB2 TP63
5 rapp-hodgkin syndrome 10.3 SATB2 TP63 TP73
6 thyroid hurthle cell adenoma 10.3 PIK3CA PTEN
7 prostate transitional cell carcinoma 10.3 CTNNB1 PIK3CA
8 clear cell adenofibroma 10.2 ARID1A PIK3CA
9 hemimegalencephaly 10.2 CTNNB1 PIK3CA
10 malignant spiradenoma 10.2 PIK3CA TP53
11 periosteal osteogenic sarcoma 10.2 SATB2 TP53
12 ovarian clear cell adenocarcinoma 10.1 ARID1A PIK3CA
13 breast squamous cell carcinoma 10.1 PIK3CA TP53
14 anal squamous cell carcinoma 10.1 PIK3CA TP53
15 synchronous bilateral breast carcinoma 10.1 PTEN TP53
16 ulcerative stomatitis 10.0 TP53 TP63 TP73
17 split-hand/foot malformation 4 10.0 SATB2 TP53 TP63
18 epstein-barr virus-associated gastric carcinoma 10.0 CTNNB1 PIK3CA TP73
19 apocrine adenoma 9.9 KRAS PIK3CA
20 uterine body mixed cancer 9.9 ARID1A PPP2R1A TP53
21 esophagus adenocarcinoma 9.9 PIK3CA TP53
22 aggressive digital papillary adenocarcinoma 9.9 KRAS PIK3CA
23 central nervous system organ benign neoplasm 9.9 CTNNB1 TP53
24 prostate squamous cell carcinoma 9.9 PIK3CA PPP2R1A TP53
25 necrotizing sialometaplasia 9.9 TP53 TP63
26 serous cystadenocarcinoma 9.9 PIK3CA PPP2R1A TP53
27 cystadenocarcinoma 9.8 PIK3CA PPP2R1A TP53
28 birt-hogg-dube syndrome 9.8 CTNNB1 PTEN
29 ovarian serous cystadenocarcinoma 9.8 PIK3CA PPP2R1A TP53
30 gliomatosis cerebri 9.8 PTEN TP53
31 undifferentiated pleomorphic sarcoma 9.8 KRAS PIK3CA
32 cervical squamous cell carcinoma 9.8 CTNNB1 TP53 TP63
33 lung adenoid cystic carcinoma 9.8 KRAS PIK3CA
34 nevus, epidermal 9.8 KRAS PIK3CA
35 colonic benign neoplasm 9.8 CTNNB1 KRAS
36 papilloma 9.7 PTEN TP53 TP63
37 hyperplastic polyposis syndrome 9.7 KRAS TP53
38 mutyh-associated polyposis 9.7 KRAS TP53
39 acneiform dermatitis 9.7 KRAS PIK3CA
40 oligodendroglioma 9.7 PTEN TP53 TP73
41 nasal cavity adenocarcinoma 9.7 KRAS TP53
42 mature teratoma 9.7 KRAS TP53
43 esophageal basaloid squamous cell carcinoma 9.7 CTNNB1 TP53
44 adult hepatocellular carcinoma 9.7 CTNNB1 PIK3CA TP53
45 bladder squamous cell carcinoma 9.6 PIK3CA PTEN TP53
46 meningioma, familial 9.6 PTEN TP53 TP73
47 pulmonary blastoma 9.6 KRAS TP53
48 renal cell carcinoma, papillary, 1 9.6 PIK3CA PTEN TP53
49 oral cavity cancer 9.6 PIK3CA PTEN TP53
50 female reproductive endometrioid cancer 9.6 CTNNB1 PTEN 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:

57
Head And Neck Eyes:
photophobia
blepharitis
blue irides
blepharophimosis
dacryocystitis
more
Skin Nails Hair Skin:
hyperkeratosis
fair skin

GenitourinaryInternal GenitaliaMale:
cryptorchidism
urethral stenosis

Respiratory Nasopharynx:
choanal atresia

Chest Breasts:
hypoplastic nipples

Skeletal Feet:
ectrodactyly
syndactyly
hypophalangy

Skin Nails Hair Hair:
sparse eyelashes
sparse pubic hair
sparse axillary hair
sparse eyebrows
light colored hair
more
Endocrine Features:
growth hormone deficiency
central diabetes insipidus
hypogonadotropic hypogonadism

Head And Neck Ears:
hearing loss
small ears
malformed auricles

Head And Neck Nose:
flat nasal tip

Neurologic Central Nervous System:
mental retardation (7%)

Head And Neck Mouth:
cleft palate
xerostomia
cleft lip
absence of stensen duct

Head And Neck Teeth:
microdontia
selective tooth agenesis
caries

Genitourinary Ureters:
vesicoureteral reflux
ureterocele
megaureter

Genitourinary Kidneys:
hydronephrosis
renal agenesis
renal dysplasia
duplicated collecting system

Skeletal Hands:
ectrodactyly
syndactyly
hypophalangy

Genitourinary External Genitalia Male:
micropenis

Genitourinary Bladder:
megacystis
bladder diverticula

Head And Neck Face:
maxillary hypoplasia
malar hypoplasia

Skin Nails Hair Nails:
dystrophic nails
pitted nails

Genitourinary Internal Genitalia Female:
transverse vaginal septum


Clinical features from OMIM:

604292

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

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

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:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability in esophageal squamous lineage GR00235-A 9.56 SATB2 TP53 TP63 ARID1A CTNNB1 KRAS
2 Apoptosis resistance GR00093-A-0 9.33 PTEN PPP2R1A PPP2R5C
3 Increased cell death HMECs cells GR00103-A-0 9.02 PTEN TP53 CTNNB1 PIK3CA PPP2R1A

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

46 (show all 25)
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.27 PTEN PIK3CA KRAS CTNNB1 ARID1A TP63
2 growth/size/body region MP:0005378 10.27 PTEN PIK3CA KRAS CTNNB1 PPP2R1A ARID1A
3 cellular MP:0005384 10.26 ARID1A PTEN PIK3CA KRAS CTNNB1 TP63
4 embryo MP:0005380 10.24 PIK3CA KRAS CTNNB1 ARID1A PTEN TP53
5 endocrine/exocrine gland MP:0005379 10.24 PIK3CA KRAS CTNNB1 ARID1A PTEN TP63
6 behavior/neurological MP:0005386 10.22 PTEN PIK3CA PPP2R1A KRAS CTNNB1 TP63
7 homeostasis/metabolism MP:0005376 10.21 ARID1A PTEN PIK3CA PPP2R1A KRAS CTNNB1
8 mortality/aging MP:0010768 10.21 ARID1A PTEN PIK3CA KRAS CTNNB1 PPP2R1A
9 craniofacial MP:0005382 10.15 KRAS CTNNB1 ARID1A TP63 TP53 SATB2
10 immune system MP:0005387 10.15 ARID1A PTEN PIK3CA KRAS CTNNB1 TP63
11 digestive/alimentary MP:0005381 10.14 PTEN KRAS CTNNB1 TP63 TP53 SATB2
12 neoplasm MP:0002006 10.13 PIK3CA KRAS CTNNB1 ARID1A PPP2R1A PTEN
13 nervous system MP:0003631 10.06 CTNNB1 ARID1A PTEN PIK3CA KRAS SATB2
14 muscle MP:0005369 10.04 PTEN PIK3CA KRAS CTNNB1 ARID1A TP63
15 integument MP:0010771 10.01 KRAS CTNNB1 PTEN PIK3CA TP53 TP63
16 limbs/digits/tail MP:0005371 10 PTEN KRAS CTNNB1 SATB2 TP63 TP53
17 hearing/vestibular/ear MP:0005377 9.97 ARID1A KRAS CTNNB1 TP53 TP73
18 normal MP:0002873 9.95 ARID1A PTEN KRAS PPP2R1A CTNNB1 TP63
19 reproductive system MP:0005389 9.92 PTEN PIK3CA KRAS CTNNB1 ARID1A TP63
20 no phenotypic analysis MP:0003012 9.91 ARID1A PIK3CA KRAS CTNNB1 TP63 TP53
21 skeleton MP:0005390 9.81 PIK3CA KRAS CTNNB1 ARID1A PTEN TP63
22 respiratory system MP:0005388 9.8 PTEN KRAS CTNNB1 TP63 TP53 SATB2
23 pigmentation MP:0001186 9.67 KRAS CTNNB1 PTEN TP53
24 vision/eye MP:0005391 9.23 PTEN PIK3CA KRAS CTNNB1 ARID1A 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 29 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:

41
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:

75 (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 20)
# Gene Variation Type Significance SNP ID Assembly Location
1 TP63 NM_003722.4(TP63): c.727C> T (p.Arg243Trp) single nucleotide variant Pathogenic rs121908835 GRCh37 Chromosome 3, 189582168: 189582168
2 TP63 NM_003722.4(TP63): c.727C> T (p.Arg243Trp) single nucleotide variant Pathogenic rs121908835 GRCh38 Chromosome 3, 189864379: 189864379
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.728G> A (p.Arg243Gln) single nucleotide variant Pathogenic rs121908836 GRCh38 Chromosome 3, 189864380: 189864380
5 TP63 NM_003722.4(TP63): c.1033T> C (p.Cys345Arg) single nucleotide variant Pathogenic rs121908837 GRCh37 Chromosome 3, 189586409: 189586409
6 TP63 NM_003722.4(TP63): c.1033T> C (p.Cys345Arg) single nucleotide variant Pathogenic rs121908837 GRCh38 Chromosome 3, 189868620: 189868620
7 TP63 TP63, 1-BP INS, 1572A insertion Pathogenic
8 TP63 NM_003722.4(TP63): c.953G> A (p.Arg318His) single nucleotide variant Pathogenic rs121908840 GRCh37 Chromosome 3, 189585692: 189585692
9 TP63 NM_003722.4(TP63): c.953G> A (p.Arg318His) single nucleotide variant Pathogenic rs121908840 GRCh38 Chromosome 3, 189867903: 189867903
10 TP63 NM_003722.4(TP63): c.1028G> A (p.Arg343Gln) single nucleotide variant Pathogenic rs121908841 GRCh37 Chromosome 3, 189586404: 189586404
11 TP63 NM_003722.4(TP63): c.1028G> A (p.Arg343Gln) single nucleotide variant Pathogenic rs121908841 GRCh38 Chromosome 3, 189868615: 189868615
12 TP63 NM_003722.4(TP63): c.1052A> G (p.Asp351Gly) single nucleotide variant Pathogenic rs121908844 GRCh37 Chromosome 3, 189586428: 189586428
13 TP63 NM_003722.4(TP63): c.1052A> G (p.Asp351Gly) single nucleotide variant Pathogenic rs121908844 GRCh38 Chromosome 3, 189868639: 189868639
14 TP63 NM_003722.4(TP63): c.797G> A (p.Arg266Gln) single nucleotide variant Pathogenic rs121908849 GRCh37 Chromosome 3, 189584501: 189584501
15 TP63 NM_003722.4(TP63): c.797G> A (p.Arg266Gln) single nucleotide variant Pathogenic rs121908849 GRCh38 Chromosome 3, 189866712: 189866712
16 TP63 TP63, ARG227PRO single nucleotide variant Pathogenic
17 TP63 NM_001114978.1(TP63): c.740A> G (p.His247Arg) single nucleotide variant Pathogenic rs864621968 GRCh38 Chromosome 3, 189864392: 189864392
18 TP63 NM_001114978.1(TP63): c.740A> G (p.His247Arg) single nucleotide variant Pathogenic rs864621968 GRCh37 Chromosome 3, 189582181: 189582181
19 TP63 NM_003722.4(TP63): c.1037C> G (p.Ala346Gly) single nucleotide variant Pathogenic rs797044484 GRCh37 Chromosome 3, 189586413: 189586413
20 TP63 NM_003722.4(TP63): c.1037C> G (p.Ala346Gly) single nucleotide variant Pathogenic rs797044484 GRCh38 Chromosome 3, 189868624: 189868624

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 68)
# 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
13.02 PIK3CA PPP2R1A PPP2R5C PTEN TP53
4
Show member pathways
12.83 CTNNB1 KRAS PPP2R1A PPP2R5C PTEN
5
Show member pathways
12.81 PPP2R1A PPP2R5C PTEN TP53 TP63 TP73
6
Show member pathways
12.78 CTNNB1 KRAS PIK3CA PTEN TP53
7 12.74 CTNNB1 KRAS PIK3CA PTEN TP53
8
Show member pathways
12.73 CTNNB1 KRAS PPP2R1A PPP2R5C
9
Show member pathways
12.7 KRAS PIK3CA TP53 TP63 TP73
10
Show member pathways
12.69 KRAS PIK3CA PTEN TP53
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
12.53 CTNNB1 KRAS PIK3CA PPP2R1A PPP2R5C PTEN
15
Show member pathways
12.52 CTNNB1 KRAS PIK3CA TP53
16
Show member pathways
12.49 CTNNB1 PPP2R1A PPP2R5C TP53
17
Show member pathways
12.47 CTNNB1 KRAS PIK3CA TP53
18
Show member pathways
12.45 CTNNB1 KRAS PIK3CA PTEN TP53
19 12.44 PPP2R1A TP53 TP63 TP73
20
Show member pathways
12.44 KRAS PIK3CA PPP2R1A PPP2R5C PTEN TP53
21
Show member pathways
12.43 KRAS PIK3CA PTEN TP53
22
Show member pathways
12.38 CTNNB1 KRAS PIK3CA TP53
23
Show member pathways
12.37 PIK3CA PPP2R1A PPP2R5C TP53
24
Show member pathways
12.36 CTNNB1 KRAS PIK3CA PTEN TP53 TP73
25 12.35 CTNNB1 KRAS PIK3CA TP53
26 12.33 KRAS PIK3CA PTEN TP53 TP63
27
Show member pathways
12.28 KRAS PIK3CA PPP2R1A PPP2R5C
28 12.22 KRAS PIK3CA TP53
29
Show member pathways
12.2 KRAS PIK3CA PPP2R1A
30 12.2 CTNNB1 KRAS PIK3CA TP53
31
Show member pathways
12.13 CTNNB1 PIK3CA PPP2R1A PPP2R5C
32 12.12 CTNNB1 KRAS TP53
33
Show member pathways
12.11 KRAS PIK3CA TP53
34 12.09 CTNNB1 PPP2R1A TP73
35 12.09 KRAS PIK3CA PTEN TP53
36
Show member pathways
12.08 KRAS PIK3CA PTEN
37 12.08 KRAS PIK3CA PTEN TP53
38
Show member pathways
12.07 KRAS PIK3CA TP53
39
Show member pathways
12.06 CTNNB1 PIK3CA PTEN
40 12.06 CTNNB1 KRAS PTEN TP53
41 12.03 CTNNB1 PIK3CA TP53
42 12.03 CTNNB1 KRAS PIK3CA
43
Show member pathways
12.03 KRAS PIK3CA PTEN
44
Show member pathways
12 KRAS PIK3CA PPP2R1A PPP2R5C
45 11.99 KRAS PIK3CA PTEN
46
Show member pathways
11.98 PIK3CA PTEN TP53
47 11.98 PTEN TP53 TP63 TP73
48
Show member pathways
11.97 TP53 TP63 TP73
49 11.97 KRAS PIK3CA PPP2R1A TP53
50
Show member pathways
11.96 KRAS PPP2R1A PPP2R5C

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 8.92 CTNNB1 SATB2 TP63 TP73

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

(show all 36)
# Name GO ID Score Top Affiliating Genes
1 apoptotic process GO:0006915 9.93 PPP2R1A PTEN TP53 TP63 TP73
2 negative regulation of cell proliferation GO:0008285 9.92 CTNNB1 PPP2R5C PTEN TP53
3 transcription by RNA polymerase II GO:0006366 9.91 CTNNB1 SATB2 TP53 TP63 TP73
4 positive regulation of gene expression GO:0010628 9.9 CTNNB1 KRAS PTEN TP53
5 cell proliferation GO:0008283 9.89 CTNNB1 PTEN TP53 TP63
6 positive regulation of transcription, DNA-templated GO:0045893 9.89 ARID1A CTNNB1 TP53 TP63 TP73
7 negative regulation of transcription by RNA polymerase II GO:0000122 9.88 ARID1A CTNNB1 SATB2 TP53 TP63 TP73
8 positive regulation of apoptotic process GO:0043065 9.87 CTNNB1 PTEN TP53 TP73
9 regulation of apoptotic process GO:0042981 9.86 CTNNB1 TP53 TP63 TP73
10 negative regulation of neuron apoptotic process GO:0043524 9.79 KRAS PIK3CA TP73
11 regulation of signal transduction by p53 class mediator GO:1901796 9.79 TP53 TP63 TP73
12 regulation of gene expression GO:0010468 9.78 CTNNB1 PIK3CA SATB2 TP73
13 chromatin remodeling GO:0006338 9.76 ARID1A SATB2 TP63
14 embryonic hindlimb morphogenesis GO:0035116 9.67 CTNNB1 TP63
15 cell aging GO:0007569 9.67 TP53 TP63
16 positive regulation of apoptotic signaling pathway GO:2001235 9.66 PTEN TP63
17 positive regulation of cell cycle arrest GO:0071158 9.66 TP53 TP73
18 positive regulation of mesenchymal cell proliferation GO:0002053 9.65 CTNNB1 TP63
19 hair follicle morphogenesis GO:0031069 9.65 CTNNB1 TP63
20 vasculature development GO:0001944 9.64 CTNNB1 PIK3CA
21 proximal/distal pattern formation GO:0009954 9.64 CTNNB1 TP63
22 negative regulation of cardiac muscle cell proliferation GO:0060044 9.63 PTEN TP73
23 cellular response to UV GO:0034644 9.63 TP53 TP63 TP73
24 epithelial tube branching involved in lung morphogenesis GO:0060441 9.61 CTNNB1 KRAS
25 protein tetramerization GO:0051262 9.61 TP53 TP63 TP73
26 regulation of synaptic transmission, GABAergic GO:0032228 9.58 KRAS PTEN
27 chromatin-mediated maintenance of transcription GO:0048096 9.55 ARID1A CTNNB1
28 positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway GO:1900740 9.54 TP53 TP63 TP73
29 cranial skeletal system development GO:1904888 9.52 CTNNB1 TP63
30 response to gamma radiation GO:0010332 9.5 TP53 TP63 TP73
31 intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator GO:0042771 9.43 TP53 TP63 TP73
32 response to X-ray GO:0010165 9.33 TP53 TP63 TP73
33 DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator GO:0006978 9.13 TP53 TP63 TP73
34 mitotic G1 DNA damage checkpoint GO:0031571 8.8 TP53 TP63 TP73
35 regulation of transcription, DNA-templated GO:0006355 10.17 ARID1A CTNNB1 PPP2R1A SATB2 TP53 TP63
36 positive regulation of transcription by RNA polymerase II GO:0045944 10.04 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 chromatin binding GO:0003682 9.35 CTNNB1 SATB2 TP53 TP63 TP73
4 damaged DNA binding GO:0003684 9.33 TP53 TP63 TP73
5 MDM2/MDM4 family protein binding GO:0097371 9.26 TP63 TP73
6 binding GO:0005488 9.02 ARID1A CTNNB1 PIK3CA PPP2R1A PPP2R5C
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
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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