EEC3
MCID: ECT042
MIFTS: 43

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

Categories: Bone diseases, Eye diseases, Fetal diseases, Genetic diseases, Nephrological diseases, Rare diseases, Skin 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 72 29 13 6 70
Eec3 57 12 72
Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip-Palate Syndrome 3 12 15
Eec Syndrome 3 57 12
Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/palate Syndrome, Type 3 39

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant

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


HPO:

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


Classifications:



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

OMIM® : 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) (Updated 05-Apr-2021)

MalaCards based summary : Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/palate Syndrome 3, also known as eec3, is related to cleft lip/palate and split-hand/foot malformation 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 MECP2 and Associated Rett Syndrome and Inhibition of Ribosome Biogenesis by p14(ARF). Affiliated tissues include pituitary, and related phenotypes are intellectual disability and hearing impairment

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 : 72 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 all 26)
# Related Disease Score Top Affiliating Genes
1 cleft lip/palate 30.2 TP63 LOC111162620
2 split-hand/foot malformation 1 30.2 TP63 DLX5
3 rapp-hodgkin syndrome 29.6 TP63 DLX6 DLX5
4 isolated split hand-split foot malformation 29.2 WNT10B TP63 DLX6 DLX5
5 adult syndrome 10.9
6 ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 1 10.9
7 bladder exstrophy 10.1 TP63 LOC111162621
8 ectodermal dysplasia 9.9
9 conjunctivitis 9.9
10 cleft lip 9.9
11 split-hand/foot malformation 3 9.8 DLX6 DLX5 BHLHA9
12 acrofacial dysostosis, cincinnati type 9.8 POLR1D POLR1C
13 orofacial cleft 8 9.8 TP63 LOC111162620 DLX6 DLX5
14 hemifacial microsomia 9.8 POLR1D POLR1C
15 split-hand/foot malformation 5 9.8 TP63 DLX6 DLX5 BHLHA9
16 agnathia-otocephaly complex 9.7 DLX6 DLX5
17 orofacial cleft 4 9.7 WNT10B TP63 DLX6
18 tooth agenesis 9.6 WNT10B TP63 DLX5
19 split-hand/foot malformation 2 9.4 WNT10B TP63 DLX6 DLX5 BHLHA9
20 split-hand/foot malformation 6 9.4 WNT10B TP63 DLX6 DLX5 BHLHA9
21 split hand-foot malformation 9.4 WNT10B TP63 DLX6 DLX5 BHLHA9
22 chromosome 2q35 duplication syndrome 9.4 WNT10B TP63 DLX6 DLX5 BHLHA9
23 orofacial cleft 9.3 TP63 POLR1D LOC111162620 DLX6 DLX5
24 split-hand/foot malformation 4 9.2 WNT10B TP63 DYNC1I1 DLX6 DLX5 BHLHA9
25 split-hand/foot malformation 1 with sensorineural hearing loss, autosomal recessive 9.2 WNT10B TP63 DYNC1I1 DLX6 DLX5 BHLHA9
26 cleft palate, isolated 9.0 ZNF189 TP63 POLR1D POLR1C DLX6 DLX5

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:

31 (show top 50) (show all 52)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 31 very rare (1%) HP:0001249
2 hearing impairment 31 HP:0000365
3 carious teeth 31 HP:0000670
4 microtia 31 HP:0008551
5 photophobia 31 HP:0000613
6 hyperkeratosis 31 HP:0000962
7 microdontia 31 HP:0000691
8 cleft palate 31 HP:0000175
9 cryptorchidism 31 HP:0000028
10 hypoplasia of the maxilla 31 HP:0000327
11 blue irides 31 HP:0000635
12 micropenis 31 HP:0000054
13 cleft upper lip 31 HP:0000204
14 choanal atresia 31 HP:0000453
15 vesicoureteral reflux 31 HP:0000076
16 hydronephrosis 31 HP:0000126
17 sparse scalp hair 31 HP:0002209
18 generalized hypopigmentation 31 HP:0007513
19 split hand 31 HP:0001171
20 malar flattening 31 HP:0000272
21 bladder diverticulum 31 HP:0000015
22 blepharophimosis 31 HP:0000581
23 urethral stenosis 31 HP:0008661
24 blepharitis 31 HP:0000498
25 toe syndactyly 31 HP:0001770
26 hydroureter 31 HP:0000072
27 hypoplastic nipples 31 HP:0002557
28 depressed nasal tip 31 HP:0000437
29 ectrodactyly 31 HP:0100257
30 nail dystrophy 31 HP:0008404
31 sparse eyelashes 31 HP:0000653
32 renal agenesis 31 HP:0000104
33 nail pits 31 HP:0001803
34 sparse axillary hair 31 HP:0002215
35 sparse pubic hair 31 HP:0002225
36 xerostomia 31 HP:0000217
37 megacystis 31 HP:0000021
38 split foot 31 HP:0001839
39 renal dysplasia 31 HP:0000110
40 dacryocystitis 31 HP:0000620
41 central diabetes insipidus 31 HP:0000863
42 ectodermal dysplasia 31 HP:0000968
43 selective tooth agenesis 31 HP:0001592
44 duplicated collecting system 31 HP:0000081
45 ureterocele 31 HP:0000070
46 fair hair 31 HP:0002286
47 hypogonadotropic hypogonadism 31 HP:0000044
48 abnormal nasopharynx morphology 31 HP:0001739
49 sparse and thin eyebrow 31 HP:0000535
50 transverse vaginal septum 31 HP:0000145

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Head And Neck Eyes:
photophobia
blue irides
blepharophimosis
blepharitis
dacryocystitis
more
Head And Neck Teeth:
microdontia
selective tooth agenesis
caries

Genitourinary Internal Genitalia Male:
cryptorchidism
urethral stenosis

Respiratory Nasopharynx:
choanal atresia

Genitourinary Kidneys:
hydronephrosis
renal agenesis
renal dysplasia
duplicated collecting system

Skeletal Hands:
ectrodactyly
syndactyly
hypophalangy

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

Head And Neck Face:
maxillary hypoplasia
malar hypoplasia

Skin Nails Hair Nails:
dystrophic nails
pitted nails

Neurologic Central Nervous System:
mental retardation (7%)

Skin Nails Hair Skin:
hyperkeratosis
fair skin

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

Genitourinary External Genitalia Male:
micropenis

Genitourinary Ureters:
vesicoureteral reflux
ureterocele
megaureter

Chest Breasts:
hypoplastic nipples

Skeletal Feet:
ectrodactyly
syndactyly
hypophalangy

Genitourinary Bladder:
megacystis
bladder diverticula

Genitourinary Internal Genitalia Female:
transverse vaginal septum

Head And Neck Ears:
hearing loss
small ears
malformed auricles

Head And Neck Nose:
flat nasal tip

Clinical features from OMIM®:

604292 (Updated 05-Apr-2021)

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


photophobia

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:

40
Pituitary

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

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

(show all 20)
# Title Authors PMID Year
1
EEC syndrome type 3 with a heterozygous germline mutation in the P63 gene and B cell lymphoma. 61 57 6
12838557 2003
2
Phenotypic analysis of Arg227 mutations of TP63 with emphasis on dental phenotype and micturition difficulties in EEC syndrome. 6 57
21204238 2011
3
Split hand foot malformation with whorl-like pigmentary pattern: phenotypic expression of somatic mosaicism for the p63 mutation. 6 57
18792980 2008
4
EEC syndrome, Arg227Gln TP63 mutation and micturition difficulties: Is there a genotype-phenotype correlation? 6 57
17431922 2007
5
Further phenotypic and genetic variation in ADULT syndrome. 57 6
17041931 2006
6
The Rapp-Hodgkin syndrome results from mutations of the TP63 gene. 57 6
12939657 2003
7
p63 Gene mutations in eec syndrome, limb-mammary syndrome, and isolated split hand-split foot malformation suggest a genotype-phenotype correlation. 57 6
11462173 2001
8
Non-Hodgkin's lymphoma in a patient with ectrodactyly ectodermal dysplasia-clefting syndrome. 6 57
10936828 2000
9
Split-hand/split-foot malformation is caused by mutations in the p63 gene on 3q27. 6 57
10839977 2000
10
Heterozygous germline mutations in the p53 homolog p63 are the cause of EEC syndrome. 6 57
10535733 1999
11
Syndromic ectrodactyly with severe limb, ectodermal, urogenital, and palatal defects maps to chromosome 19. 57 6
9443880 1998
12
Ectrodactyly-ectodermal dysplasia-clefting syndrome and hypothalamo-pituitary insufficiency. 6 57
9028452 1997
13
EEC syndrome and genitourinary anomalies: an update. 6 57
8737655 1996
14
Genitourinary malformations: an under-recognized feature of ectrodactyly, ectodermal dysplasia and cleft lip/palate syndrome. 57
28166087 2017
15
Use of Targeted Exome Sequencing for Molecular Diagnosis of Skeletal Disorders. 6
26380986 2015
16
Molecular basis of EEC (ectrodactyly, ectodermal dysplasia, clefting) syndrome: five new mutations in the DNA-binding domain of the TP63 gene and genotype-phenotype correlation. 6
19903181 2010
17
Limb mammary syndrome: a new genetic disorder with mammary hypoplasia, ectrodactyly, and other Hand/Foot anomalies maps to human chromosome 3q27. 57
9973291 1999
18
Equivalent Survival of p53 Mutated Endometrial Endometrioid Carcinoma Grade 3 and Endometrial Serous Carcinoma. 61
32265358 2021
19
A recurrent TP63 mutation causing EEC3 and Rapp-Hodgkin syndromes. 61
26882220 2016
20
TP63-Related Disorders 61
20556892 2010

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

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

6 (show top 50) (show all 109)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 TP63 TP63, 1-BP INS, 1572A Insertion Pathogenic 6530 GRCh37:
GRCh38:
2 TP63 R227P SNV Pathogenic 30348 GRCh37:
GRCh38:
3 TP63 NM_003722.5(TP63):c.728G>A (p.Arg243Gln) SNV Pathogenic 6528 rs121908836 GRCh37: 3:189582169-189582169
GRCh38: 3:189864380-189864380
4 TP63 NM_003722.5(TP63):c.1033T>C (p.Cys345Arg) SNV Pathogenic 6529 rs121908837 GRCh37: 3:189586409-189586409
GRCh38: 3:189868620-189868620
5 TP63 NM_003722.5(TP63):c.1037C>G (p.Ala346Gly) SNV Pathogenic 208418 rs797044484 GRCh37: 3:189586413-189586413
GRCh38: 3:189868624-189868624
6 TP63 NM_003722.5(TP63):c.1350-75_1492del Deletion Pathogenic 635754 rs1577195893 GRCh37: 3:189604107-189604324
GRCh38: 3:189886318-189886535
7 TP63 NM_003722.5(TP63):c.727C>T (p.Arg243Trp) SNV Pathogenic 6527 rs121908835 GRCh37: 3:189582168-189582168
GRCh38: 3:189864379-189864379
8 TP63 NM_003722.5(TP63):c.953G>A (p.Arg318His) SNV Pathogenic 6533 rs121908840 GRCh37: 3:189585692-189585692
GRCh38: 3:189867903-189867903
9 TP63 NM_003722.5(TP63):c.1028G>A (p.Arg343Gln) SNV Pathogenic 6534 rs121908841 GRCh37: 3:189586404-189586404
GRCh38: 3:189868615-189868615
10 TP63 NM_003722.5(TP63):c.1052A>G (p.Asp351Gly) SNV Pathogenic 6541 rs121908844 GRCh37: 3:189586428-189586428
GRCh38: 3:189868639-189868639
11 TP63 NM_003722.5(TP63):c.740A>G (p.His247Arg) SNV Pathogenic 208163 rs864621968 GRCh37: 3:189582181-189582181
GRCh38: 3:189864392-189864392
12 TP63 NM_003722.5(TP63):c.797G>A (p.Arg266Gln) SNV Pathogenic 6550 rs121908849 GRCh37: 3:189584501-189584501
GRCh38: 3:189866712-189866712
13 TP63 NM_003722.5(TP63):c.1685T>C (p.Leu562Pro) SNV Likely pathogenic 689635 rs774221257 GRCh37: 3:189608610-189608610
GRCh38: 3:189890821-189890821
14 TP63 NM_003722.5(TP63):c.739C>T (p.His247Tyr) SNV Likely pathogenic 478110 rs1553856553 GRCh37: 3:189582180-189582180
GRCh38: 3:189864391-189864391
15 TP63 NM_003722.5(TP63):c.*382A>G SNV Uncertain significance 344398 rs886058227 GRCh37: 3:189612673-189612673
GRCh38: 3:189894884-189894884
16 TP63 NM_003722.5(TP63):c.*1472A>G SNV Uncertain significance 344413 rs375551286 GRCh37: 3:189613763-189613763
GRCh38: 3:189895974-189895974
17 TP63 NM_003722.5(TP63):c.*1164A>G SNV Uncertain significance 344408 rs886058230 GRCh37: 3:189613455-189613455
GRCh38: 3:189895666-189895666
18 TP63 NM_003722.5(TP63):c.409G>C (p.Asp137His) SNV Uncertain significance 344381 rs762935508 GRCh37: 3:189526145-189526145
GRCh38: 3:189808356-189808356
19 TP63 NM_003722.5(TP63):c.*803G>A SNV Uncertain significance 344404 rs544230654 GRCh37: 3:189613094-189613094
GRCh38: 3:189895305-189895305
20 TP63 NM_003722.5(TP63):c.*221G>A SNV Uncertain significance 344393 rs886058224 GRCh37: 3:189612512-189612512
GRCh38: 3:189894723-189894723
21 TP63 NM_003722.5(TP63):c.*101C>T SNV Uncertain significance 344392 rs574438859 GRCh37: 3:189612392-189612392
GRCh38: 3:189894603-189894603
22 TP63 NM_003722.5(TP63):c.*736T>G SNV Uncertain significance 900279 GRCh37: 3:189613027-189613027
GRCh38: 3:189895238-189895238
23 TP63 NM_003722.5(TP63):c.*759G>A SNV Uncertain significance 900280 GRCh37: 3:189613050-189613050
GRCh38: 3:189895261-189895261
24 TP63 NM_003722.5(TP63):c.*1169T>C SNV Uncertain significance 900343 GRCh37: 3:189613460-189613460
GRCh38: 3:189895671-189895671
25 TP63 NM_003722.5(TP63):c.*1437C>G SNV Uncertain significance 900398 GRCh37: 3:189613728-189613728
GRCh38: 3:189895939-189895939
26 LOC111162620 , TP63 NM_003722.5(TP63):c.-87C>T SNV Uncertain significance 900929 GRCh37: 3:189349218-189349218
GRCh38: 3:189631429-189631429
27 TP63 NM_003722.5(TP63):c.1528A>T (p.Met510Leu) SNV Uncertain significance 802036 rs769778189 GRCh37: 3:189607149-189607149
GRCh38: 3:189889360-189889360
28 TP63 NM_003722.5(TP63):c.*2357C>A SNV Uncertain significance 899439 GRCh37: 3:189614648-189614648
GRCh38: 3:189896859-189896859
29 TP63 NM_003722.5(TP63):c.*280G>A SNV Uncertain significance 901188 GRCh37: 3:189612571-189612571
GRCh38: 3:189894782-189894782
30 TP63 NM_003722.5(TP63):c.*1248C>T SNV Uncertain significance 901496 GRCh37: 3:189613539-189613539
GRCh38: 3:189895750-189895750
31 TP63 NM_003722.5(TP63):c.*1846C>T SNV Uncertain significance 344417 rs886058234 GRCh37: 3:189614137-189614137
GRCh38: 3:189896348-189896348
32 TP63 NM_003722.5(TP63):c.*1181T>C SNV Uncertain significance 344409 rs565556454 GRCh37: 3:189613472-189613472
GRCh38: 3:189895683-189895683
33 TP63 NM_003722.5(TP63):c.*1217T>C SNV Uncertain significance 344410 rs886058231 GRCh37: 3:189613508-189613508
GRCh38: 3:189895719-189895719
34 TP63 NM_003722.5(TP63):c.*295T>A SNV Uncertain significance 344396 rs886058226 GRCh37: 3:189612586-189612586
GRCh38: 3:189894797-189894797
35 TP63 NM_003722.5(TP63):c.*2009T>C SNV Uncertain significance 344422 rs886058236 GRCh37: 3:189614300-189614300
GRCh38: 3:189896511-189896511
36 TP63 NM_003722.5(TP63):c.*232T>C SNV Uncertain significance 344395 rs569527175 GRCh37: 3:189612523-189612523
GRCh38: 3:189894734-189894734
37 TP63 NM_003722.5(TP63):c.1644C>T (p.Ser548=) SNV Uncertain significance 344388 rs763019843 GRCh37: 3:189607265-189607265
GRCh38: 3:189889476-189889476
38 TP63 NM_003722.5(TP63):c.*2273A>G SNV Uncertain significance 344429 rs886058239 GRCh37: 3:189614564-189614564
GRCh38: 3:189896775-189896775
39 TP63 NM_003722.5(TP63):c.*1702G>A SNV Uncertain significance 344415 rs886058232 GRCh37: 3:189613993-189613993
GRCh38: 3:189896204-189896204
40 LOC111162620 , TP63 NM_003722.5(TP63):c.-65C>T SNV Uncertain significance 344378 rs886058220 GRCh37: 3:189349240-189349240
GRCh38: 3:189631451-189631451
41 TP63 NM_003722.5(TP63):c.*1959A>T SNV Uncertain significance 344420 rs527726173 GRCh37: 3:189614250-189614250
GRCh38: 3:189896461-189896461
42 TP63 NM_003722.5(TP63):c.*2205A>G SNV Uncertain significance 344427 rs886058238 GRCh37: 3:189614496-189614496
GRCh38: 3:189896707-189896707
43 TP63 NM_003722.5(TP63):c.1994T>G (p.Met665Arg) SNV Uncertain significance 344391 rs886058223 GRCh37: 3:189612242-189612242
GRCh38: 3:189894453-189894453
44 TP63 NM_003722.5(TP63):c.*2155G>A SNV Uncertain significance 344425 rs573673077 GRCh37: 3:189614446-189614446
GRCh38: 3:189896657-189896657
45 TP63 NM_003722.5(TP63):c.*966C>T SNV Uncertain significance 344406 rs539983621 GRCh37: 3:189613257-189613257
GRCh38: 3:189895468-189895468
46 TP63 NM_003722.5(TP63):c.*2197C>A SNV Uncertain significance 344426 rs886058237 GRCh37: 3:189614488-189614488
GRCh38: 3:189896699-189896699
47 TP63 NM_003722.5(TP63):c.899C>A (p.Thr300Lys) SNV Uncertain significance 344385 rs886058222 GRCh37: 3:189585638-189585638
GRCh38: 3:189867849-189867849
48 TP63 NM_003722.5(TP63):c.766+3A>G SNV Uncertain significance 344383 rs886058221 GRCh37: 3:189582210-189582210
GRCh38: 3:189864421-189864421
49 TP63 NM_003722.5(TP63):c.992+9C>T SNV Uncertain significance 729808 rs369838833 GRCh37: 3:189585740-189585740
GRCh38: 3:189867951-189867951
50 TP63 NM_003722.5(TP63):c.1761G>A (p.Leu587=) SNV Uncertain significance 901130 GRCh37: 3:189612009-189612009
GRCh38: 3:189894220-189894220

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

72 (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

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:

# Super pathways Score Top Affiliating Genes
1 10.95 DLX6 DLX5
2 10.3 POLR1D POLR1C
3 9.62 POLR1D POLR1C

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 RNA polymerase III complex GO:0005666 8.96 POLR1D POLR1C
2 RNA polymerase I complex GO:0005736 8.62 POLR1D POLR1C

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

(show all 17)
# Name GO ID Score Top Affiliating Genes
1 multicellular organism development GO:0007275 9.89 WNT10B TP63 DLX6 DLX5 BHLHA9
2 regulation of transcription by RNA polymerase II GO:0006357 9.88 ZNF189 WNT10B TP63 DLX6 DLX5 BHLHA9
3 positive regulation of epithelial cell proliferation GO:0050679 9.57 DLX6 DLX5
4 inner ear morphogenesis GO:0042472 9.56 DLX6 DLX5
5 positive regulation of type I interferon production GO:0032481 9.55 POLR1D POLR1C
6 transcription initiation from RNA polymerase I promoter GO:0006361 9.54 POLR1D POLR1C
7 skeletal system development GO:0001501 9.54 TP63 DLX6 DLX5
8 positive regulation of gene expression, epigenetic GO:0045815 9.52 POLR1D POLR1C
9 developmental process GO:0032502 9.51 TP63 BHLHA9
10 termination of RNA polymerase I transcription GO:0006363 9.48 POLR1D POLR1C
11 transcription elongation from RNA polymerase I promoter GO:0006362 9.46 POLR1D POLR1C
12 intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator GO:0042771 9.43 TP63 PPP2R5C
13 epithelial cell differentiation GO:0030855 9.33 TP63 DLX6 DLX5
14 head development GO:0060322 9.32 DLX6 DLX5
15 embryo development GO:0009790 9.26 DLX6 DLX5
16 embryonic limb morphogenesis GO:0030326 9.13 TP63 DLX6 DLX5
17 anatomical structure formation involved in morphogenesis GO:0048646 8.8 TP63 DLX6 DLX5

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 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 9.55 ZNF189 TP63 DLX6 DLX5 BHLHA9
2 DNA-directed 5'-3' RNA polymerase activity GO:0003899 9.26 POLR1D POLR1C
3 DNA binding GO:0003677 9.17 ZNF189 TP63 POLR1D POLR1C DLX6 DLX5
4 protein dimerization activity GO:0046983 9.13 POLR1D POLR1C BHLHA9

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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