EEC3
MCID: ECT042
MIFTS: 53

Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/palate Syndrome 3 (EEC3)

Categories: Genetic diseases, Nephrological diseases, Rare 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 adult syndrome and ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 1, 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 Cytokine Signaling in Immune system. Affiliated tissues include lung, skin and brain, and related phenotypes are malar flattening and intellectual disability

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 in the Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/palate Syndrome 1 family:

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

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 103)
# Related Disease Score Top Affiliating Genes
1 adult syndrome 31.8 SATB2 TP63
2 ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 1 31.7 ARID1A SATB2 TP63
3 ankyloblepharon-ectodermal defects-cleft lip/palate 10.2 SATB2 TP63
4 cleft lip/palate-ectodermal dysplasia syndrome 10.2 SATB2 TP63
5 endometrioid ovary carcinoma 10.2 ARID1A PPP2R1A
6 apocrine adenoma 10.1 KRAS PIK3CA
7 rapp-hodgkin syndrome 10.1 SATB2 TP63 TP73
8 clear cell adenofibroma 10.1 ARID1A PIK3CA
9 aggressive digital papillary adenocarcinoma 10.1 KRAS PIK3CA
10 lung adenoid cystic carcinoma 10.1 KRAS PIK3CA
11 ovarian clear cell adenocarcinoma 10.1 ARID1A PIK3CA
12 thyroid hurthle cell adenoma 10.0 PIK3CA PTEN
13 acneiform dermatitis 10.0 KRAS PIK3CA
14 undifferentiated pleomorphic sarcoma 10.0 KRAS PIK3CA
15 oral leukoplakia 10.0 TP53 TP63
16 thyroid lymphoma 10.0 TP53 TP73
17 prostate squamous cell carcinoma 10.0 PPP2R1A TP53
18 necrotizing sialometaplasia 10.0 TP53 TP63
19 adenosquamous lung carcinoma 10.0 KRAS PIK3CA
20 hidradenocarcinoma 10.0 TP53 TP63
21 periosteal osteogenic sarcoma 10.0 SATB2 TP53
22 mixed cell type cancer 10.0 PPP2R1A TP53
23 adult hepatocellular carcinoma 10.0 PIK3CA TP53
24 medullomyoblastoma 10.0 TP53 TP63
25 malignant spiradenoma 10.0 PIK3CA TP53
26 hyperplastic polyposis syndrome 10.0 KRAS TP53
27 mutyh-associated polyposis 10.0 KRAS TP53
28 breast squamous cell carcinoma 10.0 PIK3CA TP53
29 nasal cavity adenocarcinoma 9.9 KRAS TP53
30 mature teratoma 9.9 KRAS TP53
31 proteus syndrome 9.9 PIK3CA PTEN
32 pulmonary blastoma 9.9 KRAS TP53
33 biliary papillomatosis 9.9 KRAS TP53
34 ulcerative stomatitis 9.9 TP53 TP63 TP73
35 pinguecula 9.9 TP53 TP63
36 synchronous bilateral breast carcinoma 9.9 PTEN TP53
37 biliary tract neoplasm 9.9 KRAS TP53
38 female reproductive endometrioid cancer 9.9 PTEN TP53
39 liver angiosarcoma 9.9 KRAS TP53
40 pseudomyxoma peritonei 9.9 KRAS TP53
41 gliomatosis cerebri 9.9 PTEN TP53
42 lipomatosis 9.9 PIK3CA PTEN
43 uterine corpus serous adenocarcinoma 9.9 PIK3CA PPP2R1A TP53
44 uterine corpus cancer 9.9 PIK3CA PPP2R1A TP53
45 serous cystadenocarcinoma 9.8 PIK3CA PPP2R1A TP53
46 cystadenocarcinoma 9.8 PIK3CA PPP2R1A TP53
47 ampulla of vater cancer 9.8 KRAS TP53
48 ovarian serous cystadenocarcinoma 9.8 PIK3CA PPP2R1A TP53
49 anal squamous cell carcinoma 9.8 PIK3CA TP53 TP73
50 gastrointestinal system benign neoplasm 9.8 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:

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

Genitourinary Internal Genitalia Male:
cryptorchidism
urethral stenosis

Respiratory Nasopharynx:
choanal atresia

Genitourinary External Genitalia Male:
micropenis

Skeletal Hands:
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

Chest Breasts:
hypoplastic nipples

Skeletal Feet:
ectrodactyly
syndactyly
hypophalangy

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 top 50) (show all 52)
# Description HPO Frequency HPO Source Accession
1 malar flattening 32 HP:0000272
2 intellectual disability 32 very rare (1%) HP:0001249
3 hearing impairment 32 HP:0000365
4 carious teeth 32 HP:0000670
5 microtia 32 HP:0008551
6 photophobia 32 HP:0000613
7 cleft palate 32 HP:0000175
8 hyperkeratosis 32 HP:0000962
9 nail dystrophy 32 HP:0008404
10 microdontia 32 HP:0000691
11 cryptorchidism 32 HP:0000028
12 hypogonadotrophic hypogonadism 32 HP:0000044
13 blepharitis 32 HP:0000498
14 hypoplasia of the maxilla 32 HP:0000327
15 blue irides 32 HP:0000635
16 xerostomia 32 HP:0000217
17 vesicoureteral reflux 32 HP:0000076
18 choanal atresia 32 HP:0000453
19 sparse scalp hair 32 HP:0002209
20 generalized hypopigmentation 32 HP:0007513
21 split hand 32 HP:0001171
22 bladder diverticulum 32 HP:0000015
23 blepharophimosis 32 HP:0000581
24 urethral stenosis 32 HP:0008661
25 toe syndactyly 32 HP:0001770
26 cleft upper lip 32 HP:0000204
27 hydronephrosis 32 HP:0000126
28 hydroureter 32 HP:0000072
29 micropenis 32 HP:0000054
30 hypoplastic nipples 32 HP:0002557
31 depressed nasal tip 32 HP:0000437
32 ectrodactyly 32 HP:0100257
33 nail pits 32 HP:0001803
34 renal agenesis 32 HP:0000104
35 sparse eyelashes 32 HP:0000653
36 dacryocystitis 32 HP:0000620
37 sparse pubic hair 32 HP:0002225
38 sparse axillary hair 32 HP:0002215
39 renal dysplasia 32 HP:0000110
40 split foot 32 HP:0001839
41 megacystis 32 HP:0000021
42 growth hormone deficiency 32 HP:0000824
43 ectodermal dysplasia 32 HP:0000968
44 selective tooth agenesis 32 HP:0001592
45 ureterocele 32 HP:0000070
46 duplicated collecting system 32 HP:0000081
47 central diabetes insipidus 32 HP:0000863
48 fair hair 32 HP:0002286
49 absence of stensen duct 32 HP:0000198
50 transverse vaginal septum 32 HP:0000145

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 9.5 ARID1A KRAS PIK3CA PTEN SATB2 TP53
2 Apoptosis resistance GR00093-A-0 9.33 PPP2R1A PPP2R5C PTEN
3 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-1 9.28 PTEN SATB2 TP53 TP73
4 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-2 9.28 PTEN SATB2 TP53 TP63 TP73

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

46 (show all 21)
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.19 ARID1A KRAS PIK3CA PTEN SATB2 TP53
2 cellular MP:0005384 10.19 ARID1A KRAS PIK3CA PTEN SATB2 TP53
3 growth/size/body region MP:0005378 10.19 ARID1A KRAS PIK3CA PPP2R1A PTEN SATB2
4 embryo MP:0005380 10.16 ARID1A KRAS PIK3CA PTEN SATB2 TP53
5 endocrine/exocrine gland MP:0005379 10.15 ARID1A KRAS PIK3CA PTEN SATB2 TP53
6 behavior/neurological MP:0005386 10.14 KRAS PIK3CA PPP2R1A PTEN TP53 TP63
7 homeostasis/metabolism MP:0005376 10.13 ARID1A KRAS PIK3CA PPP2R1A PTEN TP53
8 mortality/aging MP:0010768 10.13 ARID1A KRAS PIK3CA PPP2R1A PTEN SATB2
9 craniofacial MP:0005382 10.05 ARID1A KRAS SATB2 TP53 TP63 TP73
10 immune system MP:0005387 10.05 ARID1A KRAS PIK3CA PTEN TP53 TP63
11 digestive/alimentary MP:0005381 10.04 KRAS PTEN SATB2 TP53 TP63 TP73
12 neoplasm MP:0002006 10.03 ARID1A KRAS PIK3CA PPP2R1A PTEN TP53
13 nervous system MP:0003631 9.95 ARID1A KRAS PIK3CA PTEN SATB2 TP53
14 muscle MP:0005369 9.93 ARID1A KRAS PIK3CA PTEN TP53 TP63
15 limbs/digits/tail MP:0005371 9.89 KRAS PTEN SATB2 TP53 TP63
16 normal MP:0002873 9.8 ARID1A KRAS PPP2R1A PTEN TP53 TP63
17 reproductive system MP:0005389 9.8 ARID1A KRAS PIK3CA PTEN TP53 TP63
18 no phenotypic analysis MP:0003012 9.77 ARID1A KRAS PIK3CA TP53 TP63
19 respiratory system MP:0005388 9.63 KRAS PTEN SATB2 TP53 TP63 TP73
20 skeleton MP:0005390 9.56 ARID1A KRAS PIK3CA PTEN SATB2 TP53
21 vision/eye MP:0005391 9.17 ARID1A KRAS PIK3CA PTEN TP53 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
Lung, Skin, Brain, Liver, Bone, Breast, Thyroid

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

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

# Title Authors Year
1
A recurrent TP63 mutation causing EEC3 and Rapp-Hodgkin syndromes. ( 26882220 )
2016

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 61)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.3 KRAS PIK3CA PPP2R1A PPP2R5C PTEN TP53
2
Show member pathways
13.23 KRAS PIK3CA PPP2R1A PPP2R5C TP53
3
Show member pathways
13.18 KRAS PIK3CA PPP2R1A PPP2R5C TP53
4
Show member pathways
12.98 PIK3CA PPP2R1A PPP2R5C PTEN TP53
5
Show member pathways
12.8 KRAS PPP2R1A PPP2R5C PTEN
6
Show member pathways
12.75 KRAS PIK3CA PTEN TP53
7
Show member pathways
12.75 KRAS PIK3CA PPP2R1A PPP2R5C PTEN TP53
8 12.72 KRAS PIK3CA PTEN TP53
9
Show member pathways
12.7 PPP2R1A PPP2R5C PTEN TP53 TP63 TP73
10
Show member pathways
12.67 KRAS PIK3CA TP53 TP63 TP73
11
Show member pathways
12.65 KRAS PIK3CA PTEN TP53
12
Show member pathways
12.61 ARID1A KRAS PIK3CA PTEN TP53
13
Show member pathways
12.57 KRAS PPP2R1A PPP2R5C TP53
14
Show member pathways
12.55 KRAS PIK3CA PTEN TP53 TP73
15 12.39 PPP2R1A TP53 TP63 TP73
16
Show member pathways
12.38 KRAS PIK3CA PTEN TP53
17
Show member pathways
12.31 PIK3CA PPP2R1A PPP2R5C TP53
18
Show member pathways
12.27 KRAS PIK3CA PTEN
19
Show member pathways
12.27 PTEN TP53 TP73
20
Show member pathways
12.27 KRAS PIK3CA PPP2R1A PPP2R5C PTEN TP53
21
Show member pathways
12.25 PPP2R1A PPP2R5C TP53
22 12.24 KRAS PIK3CA PTEN TP53 TP63
23
Show member pathways
12.23 KRAS PIK3CA PPP2R1A PPP2R5C
24
Show member pathways
12.22 KRAS PIK3CA PTEN
25 12.19 KRAS PIK3CA TP53
26 12.19 KRAS PIK3CA TP53
27
Show member pathways
12.17 KRAS PIK3CA PPP2R1A
28
Show member pathways
12.15 KRAS PPP2R1A PPP2R5C TP53
29
Show member pathways
12.11 PIK3CA PPP2R1A PPP2R5C
30
Show member pathways
12.09 KRAS PIK3CA PTEN TP53
31
Show member pathways
12.08 KRAS PIK3CA TP53
32 12.05 KRAS PTEN TP53
33
Show member pathways
12.04 KRAS PIK3CA PTEN
34
Show member pathways
12.04 KRAS PIK3CA TP53
35 12.04 KRAS PIK3CA PTEN TP53
36 12.01 KRAS PIK3CA PTEN TP53
37
Show member pathways
11.99 KRAS PIK3CA PTEN
38 11.96 KRAS PIK3CA PTEN
39
Show member pathways
11.96 KRAS PIK3CA PPP2R1A PPP2R5C
40
Show member pathways
11.94 TP53 TP63 TP73
41
Show member pathways
11.93 KRAS PPP2R1A PPP2R5C
42 11.92 PTEN TP53 TP63 TP73
43 11.9 KRAS PIK3CA TP53
44 11.9 KRAS PIK3CA PPP2R1A TP53
45 11.88 KRAS PTEN TP53
46
Show member pathways
11.85 TP53 TP63 TP73
47 11.78 PIK3CA PTEN TP53
48 11.73 PTEN TP53 TP63
49
Show member pathways
11.65 PPP2R1A PPP2R5C TP53
50
Show member pathways
11.58 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 9.86 KRAS PIK3CA PPP2R1A PPP2R5C PTEN TP53
2 nucleoplasm GO:0005654 9.7 ARID1A PPP2R5C PTEN SATB2 TP53 TP63
3 nuclear chromatin GO:0000790 9.5 ARID1A TP53 TP63
4 mitochondrion GO:0005739 9.1 KRAS PPP2R1A PTEN TP53 TP63 TP73
5 protein phosphatase type 2A complex GO:0000159 8.96 PPP2R1A PPP2R5C

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

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription, DNA-templated GO:0045893 9.84 ARID1A TP53 TP63 TP73
2 transcription by RNA polymerase II GO:0006366 9.83 SATB2 TP53 TP63 TP73
3 regulation of gene expression GO:0010468 9.73 PIK3CA SATB2 TP73
4 protein dephosphorylation GO:0006470 9.67 PPP2R1A PPP2R5C PTEN
5 apoptotic process GO:0006915 9.65 PPP2R1A PTEN TP53 TP63 TP73
6 endothelial cell migration GO:0043542 9.55 PIK3CA PTEN
7 chromatin remodeling GO:0006338 9.54 ARID1A SATB2 TP63
8 cell aging GO:0007569 9.51 TP53 TP63
9 regulation of signal transduction by p53 class mediator GO:1901796 9.5 TP53 TP63 TP73
10 positive regulation of apoptotic signaling pathway GO:2001235 9.48 PTEN TP63
11 positive regulation of cell cycle arrest GO:0071158 9.46 TP53 TP73
12 negative regulation of cardiac muscle cell proliferation GO:0060044 9.43 PTEN TP73
13 regulation of synaptic transmission, GABAergic GO:0032228 9.4 KRAS PTEN
14 protein tetramerization GO:0051262 9.33 TP53 TP63 TP73
15 intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator GO:0042771 9.13 TP53 TP63 TP73
16 positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway GO:1900740 8.8 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 binding GO:0005515 9.85 ARID1A KRAS PIK3CA PPP2R1A PPP2R5C PTEN
2 MDM2/MDM4 family protein binding GO:0097371 8.96 TP63 TP73
3 p53 binding GO:0002039 8.8 TP53 TP63 TP73

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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