EEC3
MCID: ECT042
MIFTS: 56

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 58 76 30 13 6 74
Eec3 58 12 76
Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip-Palate Syndrome 3 12 15
Eec Syndrome 3 58 12
Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/palate Syndrome, Type 3 41

Characteristics:

OMIM:

58
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:

33
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 : 58 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 Cytokine Signaling in Immune system. Affiliated tissues include ovary, prostate and thyroid, and related phenotypes are intellectual disability and malar flattening

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 : 76 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 123)
# Related Disease Score Top Affiliating Genes
1 ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 1 32.1 ARID1A TP63
2 adult syndrome 11.1
3 endometrioid ovary carcinoma 10.3 ARID1A PPP2R1A
4 oral leukoplakia 10.2 TP53 TP63
5 rapp-hodgkin syndrome 10.2 TP63 TP73
6 prostate squamous cell carcinoma 10.2 PPP2R1A TP53
7 thyroid lymphoma 10.2 TP53 TP73
8 clear cell adenofibroma 10.2 ARID1A PIK3CA
9 necrotizing sialometaplasia 10.2 TP53 TP63
10 prostate transitional cell carcinoma 10.2 CTNNB1 PIK3CA
11 malignant spiradenoma 10.1 PIK3CA TP53
12 ovarian clear cell adenocarcinoma 10.1 ARID1A PIK3CA
13 breast squamous cell carcinoma 10.1 PIK3CA TP53
14 hidradenocarcinoma 10.1 TP53 TP63
15 mixed cell type cancer 10.1 PPP2R1A TP53
16 polymorphous low-grade adenocarcinoma 10.1 CTNNB1 TP63
17 hemimegalencephaly 10.1 CTNNB1 PIK3CA
18 thyroid hurthle cell adenoma 10.1 PIK3CA PTEN
19 ulcerative stomatitis 10.0 TP53 TP63 TP73
20 medullomyoblastoma 10.0 TP53 TP63
21 esophageal basaloid squamous cell carcinoma 10.0 CTNNB1 TP53
22 synchronous bilateral breast carcinoma 10.0 PTEN TP53
23 embryonal sarcoma 10.0 CTNNB1 TP53
24 tongue disease 10.0 CTNNB1 TP53
25 birt-hogg-dube syndrome 10.0 CTNNB1 PTEN
26 gliomatosis cerebri 10.0 PTEN TP53
27 uterine corpus serous adenocarcinoma 10.0 PIK3CA PPP2R1A TP53
28 apocrine adenoma 10.0 KRAS PIK3CA
29 uterine corpus cancer 10.0 PIK3CA PPP2R1A TP53
30 serous cystadenocarcinoma 10.0 PIK3CA PPP2R1A TP53
31 cystadenocarcinoma 10.0 PIK3CA PPP2R1A TP53
32 anal squamous cell carcinoma 10.0 PIK3CA TP53 TP73
33 ovarian serous cystadenocarcinoma 10.0 PIK3CA PPP2R1A TP53
34 aggressive digital papillary adenocarcinoma 10.0 KRAS PIK3CA
35 cervical squamous cell carcinoma 10.0 CTNNB1 TP53 TP63
36 epstein-barr virus-associated gastric carcinoma 10.0 CTNNB1 PIK3CA TP73
37 acinar cell carcinoma 9.9 CTNNB1 TP53
38 lung adenoid cystic carcinoma 9.9 KRAS PIK3CA
39 hyperplastic polyposis syndrome 9.9 KRAS TP53
40 mutyh-associated polyposis 9.9 KRAS TP53
41 acneiform dermatitis 9.9 KRAS PIK3CA
42 nasal cavity adenocarcinoma 9.9 KRAS TP53
43 mature teratoma 9.9 KRAS TP53
44 undifferentiated pleomorphic sarcoma 9.9 KRAS PIK3CA
45 colonic benign neoplasm 9.9 CTNNB1 KRAS
46 adult hepatocellular carcinoma 9.9 CTNNB1 PIK3CA TP53
47 pulmonary blastoma 9.9 KRAS TP53
48 biliary papillomatosis 9.9 KRAS TP53
49 aging 9.9 PTEN TP53 TP63
50 papilloma 9.9 PTEN TP53 TP63

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...

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

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

Symptoms via clinical synopsis from OMIM:

58
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

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:

27
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability in esophageal squamous lineage GR00235-A 9.5 ARID1A CTNNB1 KRAS PIK3CA PTEN TP53
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:

47 (show all 26)
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.24 ARID1A CTNNB1 KRAS PIK3CA PPP2R1A PTEN
2 behavior/neurological MP:0005386 10.23 CTNNB1 KRAS PIK3CA PPP2R1A PTEN TP53
3 cardiovascular system MP:0005385 10.22 ARID1A CTNNB1 KRAS PIK3CA PTEN TP53
4 cellular MP:0005384 10.22 ARID1A CTNNB1 KRAS PIK3CA PTEN TP53
5 homeostasis/metabolism MP:0005376 10.22 ARID1A CTNNB1 KRAS PIK3CA PPP2R1A PTEN
6 embryo MP:0005380 10.2 ARID1A CTNNB1 KRAS PIK3CA PTEN TP53
7 endocrine/exocrine gland MP:0005379 10.19 ARID1A CTNNB1 KRAS PIK3CA PTEN TP53
8 mortality/aging MP:0010768 10.18 ARID1A CTNNB1 KRAS PIK3CA PPP2R1A PTEN
9 immune system MP:0005387 10.16 ARID1A CTNNB1 KRAS PIK3CA PTEN TP53
10 neoplasm MP:0002006 10.15 ARID1A CTNNB1 KRAS PIK3CA PPP2R1A PTEN
11 craniofacial MP:0005382 10.09 ARID1A CTNNB1 KRAS TP53 TP63 TP73
12 digestive/alimentary MP:0005381 10.08 CTNNB1 KRAS PTEN TP53 TP63 TP73
13 muscle MP:0005369 10.05 ARID1A CTNNB1 KRAS PIK3CA PTEN TP53
14 integument MP:0010771 10.02 CTNNB1 KRAS PIK3CA PTEN TP53 TP63
15 nervous system MP:0003631 10.02 ARID1A CTNNB1 KRAS PIK3CA PTEN TP53
16 normal MP:0002873 9.98 ARID1A CTNNB1 KRAS PPP2R1A PTEN TP53
17 hearing/vestibular/ear MP:0005377 9.97 ARID1A CTNNB1 KRAS TP53 TP73
18 limbs/digits/tail MP:0005371 9.93 CTNNB1 KRAS PTEN TP53 TP63
19 no phenotypic analysis MP:0003012 9.93 ARID1A CTNNB1 KRAS PIK3CA TP53 TP63
20 reproductive system MP:0005389 9.92 ARID1A CTNNB1 KRAS PIK3CA PTEN TP53
21 renal/urinary system MP:0005367 9.77 CTNNB1 KRAS PTEN TP53 TP63
22 skeleton MP:0005390 9.76 ARID1A CTNNB1 KRAS PIK3CA PTEN TP53
23 respiratory system MP:0005388 9.73 CTNNB1 KRAS PTEN TP53 TP63 TP73
24 pigmentation MP:0001186 9.71 CTNNB1 KRAS PTEN TP53
25 vision/eye MP:0005391 9.23 ARID1A CTNNB1 KRAS PIK3CA PTEN TP53
26 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 30 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:

42
Ovary, Prostate, Thyroid, Skin, Colon, Brain, Bone

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

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

(show all 14)
# Title Authors Year
1
A recurrent TP63 mutation causing EEC3 and Rapp-Hodgkin syndromes. ( 26882220 )
2016
2
Phenotypic analysis of Arg227 mutations of TP63 with emphasis on dental phenotype and micturition difficulties in EEC syndrome. ( 21204238 )
2011
3
Split hand foot malformation with whorl-like pigmentary pattern: phenotypic expression of somatic mosaicism for the p63 mutation. ( 18792980 )
2008
4
EEC syndrome, Arg227Gln TP63 mutation and micturition difficulties: Is there a genotype-phenotype correlation? ( 17431922 )
2007
5
Further phenotypic and genetic variation in ADULT syndrome. ( 17041931 )
2006
6
The Rapp-Hodgkin syndrome results from mutations of the TP63 gene. ( 12939657 )
2003
7
EEC syndrome type 3 with a heterozygous germline mutation in the P63 gene and B cell lymphoma. ( 12838557 )
2003
8
p63 Gene mutations in eec syndrome, limb-mammary syndrome, and isolated split hand-split foot malformation suggest a genotype-phenotype correlation. ( 11462173 )
2001
9
Non-Hodgkin's lymphoma in a patient with ectrodactyly ectodermal dysplasia-clefting syndrome. ( 10936828 )
2000
10
Split-hand/split-foot malformation is caused by mutations in the p63 gene on 3q27. ( 10839977 )
2000
11
Heterozygous germline mutations in the p53 homolog p63 are the cause of EEC syndrome. ( 10535733 )
1999
12
Syndromic ectrodactyly with severe limb, ectodermal, urogenital, and palatal defects maps to chromosome 19. ( 9443880 )
1998
13
Ectrodactyly-ectodermal dysplasia-clefting syndrome and hypothalamo-pituitary insufficiency. ( 9028452 )
1997
14
EEC syndrome and genitourinary anomalies: an update. ( 8737655 )
1996

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:

76 (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 rs120553602
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 77)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.35 KRAS PIK3CA PPP2R1A PPP2R5C PTEN TP53
2
Show member pathways
13.26 KRAS PIK3CA PPP2R1A PPP2R5C TP53
3
Show member pathways
13.21 KRAS PIK3CA PPP2R1A PPP2R5C TP53
4
Show member pathways
13.18 CTNNB1 KRAS PPP2R1A PPP2R5C TP73
5
Show member pathways
12.86 CTNNB1 KRAS PIK3CA PTEN TP53
6
Show member pathways
12.86 CTNNB1 KRAS PIK3CA PTEN TP53
7
Show member pathways
12.81 CTNNB1 KRAS PIK3CA PTEN
8
Show member pathways
12.81 CTNNB1 KRAS PPP2R1A PPP2R5C PTEN
9
Show member pathways
12.77 PPP2R1A PPP2R5C PTEN TP53 TP63 TP73
10
Show member pathways
12.75 CTNNB1 KRAS PIK3CA PTEN TP53
11
Show member pathways
12.73 CTNNB1 KRAS PPP2R1A PPP2R5C
12 12.73 CTNNB1 KRAS PIK3CA PTEN TP53
13
Show member pathways
12.69 KRAS PIK3CA TP53 TP63 TP73
14
Show member pathways
12.61 KRAS PIK3CA PTEN TP53
15
Show member pathways
12.61 KRAS PPP2R1A PPP2R5C TP53
16
Show member pathways
12.59 CTNNB1 KRAS PIK3CA PTEN
17
Show member pathways
12.53 CTNNB1 KRAS PIK3CA PPP2R1A PPP2R5C PTEN
18
Show member pathways
12.52 CTNNB1 KRAS PIK3CA TP53
19
Show member pathways
12.51 ARID1A CTNNB1 KRAS PIK3CA PTEN TP53
20
Show member pathways
12.46 CTNNB1 KRAS PIK3CA TP53
21
Show member pathways
12.44 KRAS PIK3CA PPP2R1A PPP2R5C PTEN TP53
22 12.43 PPP2R1A TP53 TP63 TP73
23
Show member pathways
12.42 KRAS PIK3CA PTEN TP53
24
Show member pathways
12.36 PIK3CA PPP2R1A PPP2R5C TP53
25
Show member pathways
12.36 CTNNB1 KRAS PIK3CA TP53
26
Show member pathways
12.36 CTNNB1 KRAS PIK3CA PTEN TP53 TP73
27 12.33 KRAS PIK3CA PTEN TP53 TP63
28
Show member pathways
12.28 PPP2R1A PPP2R5C TP53
29 12.28 CTNNB1 KRAS PIK3CA TP53
30
Show member pathways
12.27 KRAS PIK3CA PPP2R1A PPP2R5C
31
Show member pathways
12.25 KRAS PIK3CA PTEN
32 12.22 KRAS PIK3CA TP53
33
Show member pathways
12.22 CTNNB1 PPP2R1A PPP2R5C TP53
34
Show member pathways
12.2 KRAS PIK3CA PPP2R1A
35
Show member pathways
12.2 KRAS PPP2R1A PPP2R5C TP53
36 12.2 CTNNB1 KRAS PIK3CA TP53
37
Show member pathways
12.14 KRAS PIK3CA PTEN TP53
38 12.13 CTNNB1 KRAS TP53
39
Show member pathways
12.11 KRAS PIK3CA TP53
40
Show member pathways
12.11 CTNNB1 PIK3CA PPP2R1A PPP2R5C
41 12.09 CTNNB1 PPP2R1A TP73
42
Show member pathways
12.08 KRAS PIK3CA PTEN
43
Show member pathways
12.08 KRAS PIK3CA TP53
44 12.07 KRAS PIK3CA PTEN TP53
45
Show member pathways
12.06 CTNNB1 PIK3CA PTEN
46 12.05 CTNNB1 KRAS PTEN TP53
47 12.04 KRAS PIK3CA PTEN TP53
48 12.03 CTNNB1 PIK3CA TP53
49 12.03 CTNNB1 KRAS PIK3CA
50
Show member pathways
12.03 KRAS PIK3CA PTEN

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 nucleoplasm GO:0005654 9.8 ARID1A CTNNB1 PPP2R5C PTEN TP53 TP63
2 mitochondrion GO:0005739 9.43 KRAS PPP2R1A PTEN TP53 TP63 TP73
3 cytosol GO:0005829 9.28 CTNNB1 KRAS PIK3CA PPP2R1A PPP2R5C PTEN
4 protein phosphatase type 2A complex GO:0000159 9.16 PPP2R1A PPP2R5C

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

(show all 27)
# Name GO ID Score Top Affiliating Genes
1 negative regulation of cell proliferation GO:0008285 9.84 CTNNB1 PPP2R5C PTEN TP53
2 positive regulation of gene expression GO:0010628 9.83 CTNNB1 KRAS PTEN TP53
3 regulation of gene expression GO:0010468 9.81 CTNNB1 PIK3CA TP73
4 cell proliferation GO:0008283 9.8 CTNNB1 PTEN TP53 TP63
5 protein dephosphorylation GO:0006470 9.79 PPP2R1A PPP2R5C PTEN
6 positive regulation of apoptotic process GO:0043065 9.78 CTNNB1 PTEN TP53 TP73
7 apoptotic process GO:0006915 9.77 PPP2R1A PTEN TP53 TP63 TP73
8 positive regulation of transcription, DNA-templated GO:0045893 9.65 ARID1A CTNNB1 TP53 TP63 TP73
9 embryonic forelimb morphogenesis GO:0035115 9.63 CTNNB1 TP63
10 endothelial cell migration GO:0043542 9.62 PIK3CA PTEN
11 cell aging GO:0007569 9.62 TP53 TP63
12 regulation of apoptotic process GO:0042981 9.62 CTNNB1 TP53 TP63 TP73
13 embryonic hindlimb morphogenesis GO:0035116 9.61 CTNNB1 TP63
14 regulation of signal transduction by p53 class mediator GO:1901796 9.61 TP53 TP63 TP73
15 positive regulation of apoptotic signaling pathway GO:2001235 9.6 PTEN TP63
16 positive regulation of cell cycle arrest GO:0071158 9.59 TP53 TP73
17 vasculature development GO:0001944 9.58 CTNNB1 PIK3CA
18 hair follicle morphogenesis GO:0031069 9.58 CTNNB1 TP63
19 proximal/distal pattern formation GO:0009954 9.57 CTNNB1 TP63
20 negative regulation of cardiac muscle cell proliferation GO:0060044 9.56 PTEN TP73
21 epithelial tube branching involved in lung morphogenesis GO:0060441 9.55 CTNNB1 KRAS
22 regulation of synaptic transmission, GABAergic GO:0032228 9.51 KRAS PTEN
23 chromatin-mediated maintenance of transcription GO:0048096 9.46 ARID1A CTNNB1
24 cranial skeletal system development GO:1904888 9.4 CTNNB1 TP63
25 protein tetramerization GO:0051262 9.33 TP53 TP63 TP73
26 intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator GO:0042771 9.13 TP53 TP63 TP73
27 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 9.96 ARID1A CTNNB1 KRAS PIK3CA PPP2R1A PPP2R5C
2 protein kinase binding GO:0019901 9.46 CTNNB1 PTEN TP53 TP73
3 MDM2/MDM4 family protein binding GO:0097371 8.96 TP63 TP73
4 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 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
Content
Loading form....