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 54 71 29 13 69
Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip-Palate Syndrome 3 12 14
Eec3 12 71
Eec Syndrome 3 12

Characteristics:

OMIM:

54
Inheritance:
autosomal dominant

Miscellaneous:
heterogeneous disorder
two loci described - eec1 and eec3
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 : 54
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 ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3, is related to adult syndrome and eec syndrome, and has symptoms including sparse scalp hair, micropenis and choanal atresia. 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 Sertoli-Sertoli Cell Junction Dynamics. 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 86)
id Related Disease Score Top Affiliating Genes
1 adult syndrome 10.8
2 eec syndrome 10.8
3 lathosterolosis 10.4 SATB2 TP63
4 hypomyelinating leukodystrophy 10.4 PPP2R5C SATB2 TP63
5 hypotrichosis 7 10.3 SATB2 TP63 TP73
6 fibroepithelial polyp of the anus 10.3 PIK3CA PTEN
7 colon neuroendocrine neoplasm 10.3 PPP2R1A TP53
8 hemoglobinemia 10.3 CTNNB1 PIK3CA
9 ovarian endometrioid adenofibroma 10.2 ARID1A PIK3CA
10 duodenum cancer 10.2 TP53 TP73
11 lipid-cell variant infiltrating bladder urothelial carcinoma 10.2 PIK3CA TP53
12 breast epithelioid hemangioma 10.2 SATB2 TP53
13 fallopian tube endometrioid adenocarcinoma 10.1 ARID1A PPP2R1A PTEN
14 toxic myocarditis 10.1 TP53 TP63 TP73
15 chest wall lymphoma 10.1 PTEN TP53
16 ampulla of vater clear cell adenocarcinoma 10.1 ARID1A PIK3CA
17 pneumothorax, primary spontaneous 10.0 CTNNB1 PTEN
18 hay-wells syndrome 10.0 SATB2 TP53 TP63
19 cowden syndrome 6 10.0 PIK3CA PTEN
20 immune system organ benign neoplasm 10.0 CTNNB1 TP53
21 autosomal recessive leukoencephalopathy-ischemic stroke-retinitis pigmentosa syndrome 10.0 CTNNB1 PIK3CA TP73
22 uniparental disomy of chromosome 11 10.0 KRAS PIK3CA
23 gastric papillary adenocarcinoma 10.0 KRAS PIK3CA
24 breast adenoid cystic carcinoma 9.9 KRAS PIK3CA
25 lymphopenia 9.9 PTEN TP53
26 autonomic nervous system neoplasm 9.8 PTEN TP53 TP63
27 esophagus squamous cell carcinoma 9.8 PTEN TP53
28 coloboma of inferior eyelid 9.8 KRAS TP53
29 microphthalmia/anophthalmia/coloboma spectrum 9.8 KRAS TP53
30 spinal cord glioma 9.8 PTEN TP53 TP73
31 adenocarcinoma in situ 9.8 KRAS TP53
32 occupational dermatitis 9.8 KRAS PIK3CA
33 glycogen storage disease due to lactate dehydrogenase deficiency 9.7 CTNNB1 PIK3CA TP53
34 brenner tumor of the vagina 9.7 PIK3CA PTEN TP53
35 brenner tumor of ovary 9.7 PIK3CA PTEN TP53
36 malignant syringoma 9.7 KRAS TP53
37 autoimmune lymphoproliferative syndrome 9.7 PTEN TP53 TP73
38 myxedema 9.7 PIK3CA PTEN TP53
39 congenital mesoblastic nephroma 9.7 KRAS TP53
40 uterine corpus adenofibroma 9.7 KRAS TP53
41 plasmodium ovale malaria 9.6 TP53 TP63
42 bleeding disorder, platelet-type, 13 9.6 CTNNB1 PTEN TP53
43 bardet-biedl syndrome 9.6 CTNNB1 PTEN TP53
44 nail disorder, nonsyndromic congenital, 1 9.6 CTNNB1 PTEN TP53
45 glomus tympanicum tumor 9.6 PIK3CA PTEN TP53
46 sebaceous adenocarcinoma 9.6 KRAS TP53 TP63
47 orchitis 9.6 CTNNB1 PTEN TP53
48 hypersensitivity reaction type iii disease 9.6 KRAS PPP2R1A TP53
49 extramedullary plasmacytoma 9.5 ARID1A KRAS TP53
50 zimmermann-laband syndrome 2 9.4 PIK3CA 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...

Symptoms via clinical synopsis from OMIM:

54

Skin Nails & Hair- Nails:
dystrophic nails
pitted nails

Head And Neck- Ears:
hearing loss
small ears
malformed auricles

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

Head And Neck- Face:
maxillary hypoplasia
malar hypoplasia

Head And Neck- Eyes:
photophobia
blepharophimosis
blue irides
blepharitis
dacryocystitis
more
Genitourinary- Ureters:
vesicoureteral reflux
megaureter
ureterocele

Skeletal- Feet:
syndactyly
ectrodactyly
hypophalangy

Endocrine Features:
growth hormone deficiency
hypogonadotropic hypogonadism
central diabetes insipidus

Chest- Breasts:
hypoplastic nipples

Genitourinary- Bladder:
megacystis
bladder diverticula

Neurologic- Central Nervous System:
mental retardation (7%)

Genitourinary- External Genitalia Male:
micropenis

Respiratory- Nasopharynx:
choanal atresia

Genitourinary- Kidneys:
hydronephrosis
renal agenesis
renal dysplasia
duplicated collecting system

Genitourinary- Internal Genitalia Male:
cryptorchidism
urethral stenosis

Skin Nails & Hair- Skin:
hyperkeratosis
fair skin

Head And Neck- Teeth:
caries
microdontia
selective tooth agenesis

Skeletal- Hands:
syndactyly
ectrodactyly
hypophalangy

Skin Nails & Hair- Hair:
sparse eyelashes
sparse eyebrows
light colored hair
sparse, thin scalp hair
sparse pubic hair
more
Head And Neck- Nose:
flat nasal tip

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

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability in esophageal squamous lineage GR00235-A 9.56 TP53 TP63 ARID1A CTNNB1 KRAS PIK3CA
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:

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

id Genetic test Affiliating Genes
1 Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/palate Syndrome 3 29

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:

39
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)
id 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
14 TP63 p.Arg319Ser VAR_032744
15 TP63 p.Arg343Trp VAR_032745
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)
id 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.728G> A (p.Arg243Gln) single nucleotide variant Pathogenic rs121908836 GRCh37 Chromosome 3, 189582169: 189582169
3 TP63 NM_003722.4(TP63): c.1033T> C (p.Cys345Arg) single nucleotide variant Pathogenic rs121908837 GRCh37 Chromosome 3, 189586409: 189586409
4 TP63 TP63, 1-BP INS, 1572A insertion Pathogenic
5 TP63 NM_003722.4(TP63): c.953G> A (p.Arg318His) single nucleotide variant Pathogenic rs121908840 GRCh37 Chromosome 3, 189585692: 189585692
6 TP63 NM_003722.4(TP63): c.1028G> A (p.Arg343Gln) single nucleotide variant Pathogenic rs121908841 GRCh37 Chromosome 3, 189586404: 189586404
7 TP63 NM_003722.4(TP63): c.1052A> G (p.Asp351Gly) single nucleotide variant Pathogenic rs121908844 GRCh37 Chromosome 3, 189586428: 189586428
8 TP63 NM_003722.4(TP63): c.797G> A (p.Arg266Gln) single nucleotide variant Pathogenic rs121908849 GRCh37 Chromosome 3, 189584501: 189584501
9 TP63 TP63, ARG227PRO single nucleotide variant Pathogenic
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 59)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
13.34 KRAS PIK3CA PPP2R1A PPP2R5C PTEN TP53
2
Show member pathways
12.82 CTNNB1 KRAS PPP2R1A PPP2R5C PTEN
3
Show member pathways
12.81 PPP2R1A PPP2R5C PTEN TP53 TP63 TP73
4
Show member pathways
12.72 CTNNB1 KRAS PPP2R1A PPP2R5C
5
Show member pathways
12.7 KRAS PIK3CA TP53 TP63 TP73
6
Show member pathways
12.68 KRAS PIK3CA PPP2R1A PPP2R5C
7
Show member pathways
12.68 CTNNB1 KRAS PIK3CA PTEN
8
Show member pathways
12.57 KRAS PPP2R1A PPP2R5C TP53
9
Show member pathways
12.57 CTNNB1 KRAS PIK3CA PTEN TP53 TP73
10 12.55 CTNNB1 KRAS PIK3CA PTEN TP53
11
Show member pathways
12.5 CTNNB1 KRAS PIK3CA TP53
12
Show member pathways
12.47 CTNNB1 PPP2R1A PPP2R5C TP53
13
Show member pathways
12.45 CTNNB1 KRAS PIK3CA PTEN TP53
14 12.42 PPP2R1A TP53 TP63 TP73
15
Show member pathways
12.42 KRAS PIK3CA PTEN TP53
16
Show member pathways
12.42 CTNNB1 KRAS PIK3CA TP53
17
Show member pathways
12.37 KRAS PIK3CA PPP2R1A PPP2R5C PTEN TP53
18
Show member pathways
12.36 CTNNB1 KRAS PIK3CA TP53
19
Show member pathways
12.35 PIK3CA PPP2R1A PPP2R5C TP53
20 12.33 CTNNB1 KRAS PIK3CA TP53
21 12.33 KRAS PIK3CA PTEN TP53 TP63
22
Show member pathways
12.25 KRAS PIK3CA PPP2R1A PPP2R5C
23 12.23 CTNNB1 KRAS PIK3CA PPP2R1A PPP2R5C PTEN
24 12.19 CTNNB1 KRAS PIK3CA TP53
25
Show member pathways
12.17 KRAS PIK3CA PTEN TP53
26 12.11 CTNNB1 KRAS TP53
27
Show member pathways
12.11 CTNNB1 PIK3CA PPP2R1A PPP2R5C
28
Show member pathways
12.1 KRAS PIK3CA TP53
29 12.08 CTNNB1 PPP2R1A TP73
30
Show member pathways
12.07 KRAS PIK3CA PTEN
31
Show member pathways
12.06 KRAS PIK3CA TP53
32 12.06 CTNNB1 KRAS PTEN TP53
33
Show member pathways
12.05 CTNNB1 PIK3CA PTEN
34 12.02 CTNNB1 PIK3CA TP53
35 12.02 CTNNB1 KRAS PIK3CA
36
Show member pathways
12.01 KRAS PIK3CA PTEN
37 12 KRAS PTEN TP53
38 11.97 KRAS PIK3CA PTEN
39 11.96 PTEN TP53 TP63 TP73
40
Show member pathways
11.95 TP53 TP63 TP73
41
Show member pathways
11.94 KRAS PPP2R1A PPP2R5C
42 11.94 KRAS PIK3CA PPP2R1A TP53
43 11.89 CTNNB1 PPP2R1A PPP2R5C
44
Show member pathways
11.87 TP53 TP63 TP73
45 11.86 CTNNB1 KRAS PIK3CA TP53
46 11.82 CTNNB1 KRAS PTEN TP53
47 11.76 PIK3CA PTEN TP53
48 11.76 PTEN TP53 TP63
49
Show member pathways
11.68 PPP2R1A PPP2R5C TP53
50
Show member pathways
11.6 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:

id 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 32)
id 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 positive regulation of transcription, DNA-templated GO:0045893 9.89 ARID1A CTNNB1 TP53 TP63 TP73
4 positive regulation of gene expression GO:0010628 9.88 CTNNB1 KRAS PTEN TP53
5 positive regulation of apoptotic process GO:0043065 9.86 CTNNB1 PTEN TP53 TP73
6 negative regulation of transcription from RNA polymerase II promoter GO:0000122 9.85 ARID1A CTNNB1 SATB2 TP53 TP63 TP73
7 regulation of apoptotic process GO:0042981 9.81 CTNNB1 TP53 TP63 TP73
8 negative regulation of neuron apoptotic process GO:0043524 9.78 KRAS PIK3CA TP73
9 regulation of gene expression GO:0010468 9.78 CTNNB1 PIK3CA SATB2 TP73
10 regulation of signal transduction by p53 class mediator GO:1901796 9.77 TP53 TP63 TP73
11 phosphatidylinositol-mediated signaling GO:0048015 9.75 PIK3CA PTEN TP53
12 chromatin remodeling GO:0006338 9.7 ARID1A SATB2 TP63
13 cell aging GO:0007569 9.65 TP53 TP63
14 positive regulation of mesenchymal cell proliferation GO:0002053 9.65 CTNNB1 TP63
15 positive regulation of cell cycle arrest GO:0071158 9.65 TP53 TP73
16 hair follicle morphogenesis GO:0031069 9.64 CTNNB1 TP63
17 vasculature development GO:0001944 9.63 CTNNB1 PIK3CA
18 proximal/distal pattern formation GO:0009954 9.63 CTNNB1 TP63
19 cellular response to UV GO:0034644 9.63 TP53 TP63 TP73
20 negative regulation of cardiac muscle cell proliferation GO:0060044 9.61 PTEN TP73
21 protein tetramerization GO:0051262 9.61 TP53 TP63 TP73
22 epithelial tube branching involved in lung morphogenesis GO:0060441 9.59 CTNNB1 KRAS
23 response to gamma radiation GO:0010332 9.58 TP53 TP63 TP73
24 regulation of synaptic transmission, GABAergic GO:0032228 9.57 KRAS PTEN
25 chromatin-mediated maintenance of transcription GO:0048096 9.55 ARID1A CTNNB1
26 positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway GO:1900740 9.5 TP53 TP63 TP73
27 intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator GO:0042771 9.43 TP53 TP63 TP73
28 response to X-ray GO:0010165 9.33 TP53 TP63 TP73
29 DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator GO:0006978 9.13 TP53 TP63 TP73
30 mitotic G1 DNA damage checkpoint GO:0031571 8.8 TP53 TP63 TP73
31 regulation of transcription, DNA-templated GO:0006355 10.17 ARID1A CTNNB1 PPP2R1A SATB2 TP53 TP63
32 positive regulation of transcription from RNA polymerase II promoter 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:

id 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 damaged DNA binding GO:0003684 9.33 TP53 TP63 TP73
4 MDM2/MDM4 family protein binding GO:0097371 9.26 TP63 TP73
5 transcription regulatory region DNA binding GO:0044212 9.26 CTNNB1 TP53 TP63 TP73
6 chromatin binding GO:0003682 9.02 CTNNB1 SATB2 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
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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 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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