EEC1
MCID: ECT100
MIFTS: 51

Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/palate Syndrome 1 (EEC1)

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 1:

Name: Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/palate Syndrome 1 57 29 70
Eec Syndrome 12 73 20 58 15
Rudiger Syndrome 1 12 20 70
Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip-Palate Syndrome 1 12 15
Ectrodactyly-Ectodermal Dysplasia-Cleft Lip/palate Syndrome 20 58
Walker-Clodius Syndrome 12 20
Eec Syndrome 1 57 12
Eec1 57 12
Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip-Palate Syndrome 12
Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/palate Syndrome 39
Ectrodactyly-Ectodermal Dysplasia-Cleft Lip/cleft Palate 20
Ectrodactyly, Ectodermal Dysplasia, Cleft Lip/palate, 1 13
Ectrodactyly-Ectodermal Dysplasia-Clefting Syndrome 20
Ectrodactyly, Ectodermal Dysplasia, Clefting Syndrome 6
Ectrodactyly-Ectodermal Dysplasia-Clefting Syndrome 12
Ectrodactyly-Cleft Lip/palate Syndrome 20
Ectrodactyly-Cleft Lip-Palate Syndrome 44
Eec Syndrome-1 57
Eec 57

Characteristics:

Orphanet epidemiological data:

58
eec syndrome
Inheritance: Autosomal dominant; Prevalence: 1-9/100000 (Europe); Age of onset: Antenatal,Neonatal; Age of death: normal life expectancy;

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal dominant

Miscellaneous:
genetic heterogeneity
two loci described - eec1 and eec3
majority of eec cases appear to be secondary to tp63 mutations


HPO:

31
ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 1:
Inheritance autosomal dominant inheritance heterogeneous


Classifications:

Orphanet: 58  
Rare eye diseases
Rare renal diseases
Rare bone diseases
Rare skin diseases
Developmental anomalies during embryogenesis


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

GARD : 20 EEC syndrome (Ectrodactyly-Ectodermal Dysplasia- Cleft Lip /Palate) is a rare form of ectodermal dysplasia. The symptoms can vary from mild to severe and most commonly include missing or irregular fingers and/or toes (ectrodactyly or split hand/foot malformation); abnormalities of the hair and glands; cleft lip and/or palate ; distinctive facial features; and abnormalities of the eyes and urinary tract. EEC syndrome can be divided into two different types defined by the underlying cause. More than 90% of individuals have EEC syndrome type 3 ( EEC3 ), caused by mutations in the TP63 gene. The of individuals with EEC syndrome are thought to have a mutation in a region on chromosome 7, known as EEC syndrome type 1 ( EEC1 ). EEC syndrome is inherited in an autosomal dominant manner. Management typically requires evaluation by various specialists. Treatment varies depending on the signs and symptoms present in the affected individual.

MalaCards based summary : Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/palate Syndrome 1, also known as eec syndrome, is related to bladder exstrophy-epispadias-cloacal exstrophy complex and cleft lip, and has symptoms including photophobia An important gene associated with Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/palate Syndrome 1 is TP63 (Tumor Protein P63), and among its related pathways/superpathways are TP53 Network and Hypothetical Craniofacial Development Pathway. Affiliated tissues include eye, thymus and heart, and related phenotypes are carious teeth and thick eyebrow

Disease Ontology : 12 A syndrome characterized by ectrodactyly, ectodermal dysplasia, and orofacial clefts (cleft lip-palate).

Wikipedia : 73 Ectrodactyly-ectodermal dysplasia-cleft syndrome, or EEC, and also referred to as EEC syndrome and split... more...

More information from OMIM: 129900

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 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 175)
# Related Disease Score Top Affiliating Genes
1 bladder exstrophy-epispadias-cloacal exstrophy complex 32.4 CNTNAP3B CNTNAP3
2 cleft lip 31.8 TP63 NECTIN1 IRF6 EEC1
3 cleft lip/palate 31.8 TP63 NECTIN1 IRF6 EEC1
4 chromosome 2q35 duplication syndrome 30.7 TP63 NECTIN1 IRF6
5 cleft palate, isolated 30.5 TP63 NECTIN1 IRF6 HOXA2
6 ankyloblepharon-ectodermal defects-cleft lip/palate 30.3 TP63 IRF6
7 van der woude syndrome 1 30.2 TP63 NECTIN1 IRF6
8 wells syndrome 30.0 TP63 TP53
9 ectrodactyly and ectodermal dysplasia without cleft lip/palate 11.4
10 rudiger syndrome 11.2
11 bladder exstrophy 11.1
12 adult syndrome 11.1
13 eec syndrome and related disorders 11.1
14 limb-mammary syndrome 11.1
15 ectodermal dysplasia 11.1
16 cleft palate, cardiac defect, genital anomalies, and ectrodactyly 11.0
17 ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 10.9
18 hartsfield syndrome 10.9
19 split-hand/foot malformation 1 10.8
20 isolated split hand-split foot malformation 10.8
21 keratopathy 10.5
22 isolated growth hormone deficiency 10.4
23 hypogonadotropic hypogonadism 10.4
24 corneal disease 10.4
25 hypopituitarism 10.4
26 growth hormone deficiency 10.4
27 pili torti 10.4
28 dandy-walker syndrome 10.4
29 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.4
30 hydronephrosis 10.4
31 corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia 10.4
32 microtia 10.4
33 necrotizing sialometaplasia 10.4 TP63 TP53
34 ulcerative stomatitis 10.3 TP63 TP53
35 bartsocas-papas syndrome 10.3 TP63 IRF6
36 endometrioid ovary carcinoma 10.3 TP53 POLE
37 childhood malignant schwannoma 10.3 TP53 NECTIN1
38 3mc syndrome 10.3 NCKAP5L FAM186B BCDIN3D-AS1
39 orofacial cleft 8 10.3 TP63 IRF6
40 keratitis, hereditary 10.3
41 otitis media 10.3
42 septooptic dysplasia 10.3
43 charge syndrome 10.3
44 pierre robin syndrome 10.3
45 dermatitis, atopic 10.3
46 microcephaly 10.3
47 fissured tongue 10.3
48 corneal degeneration 10.3
49 entropion 10.3
50 hypothyroidism 10.3

Graphical network of the top 20 diseases related to Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/palate Syndrome 1:



Diseases related to Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/palate Syndrome 1

Symptoms & Phenotypes for Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/palate Syndrome...

Human phenotypes related to Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/palate Syndrome 1:

58 31 (show top 50) (show all 97)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 carious teeth 58 31 hallmark (90%) Very frequent (99-80%) HP:0000670
2 thick eyebrow 58 31 hallmark (90%) Very frequent (99-80%) HP:0000574
3 coarse hair 58 31 hallmark (90%) Very frequent (99-80%) HP:0002208
4 hyperkeratosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000962
5 microdontia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000691
6 dry skin 58 31 hallmark (90%) Very frequent (99-80%) HP:0000958
7 lacrimation abnormality 58 31 hallmark (90%) Very frequent (99-80%) HP:0000632
8 taurodontia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000679
9 abnormality of dental enamel 58 31 hallmark (90%) Very frequent (99-80%) HP:0000682
10 reduced number of teeth 58 31 hallmark (90%) Very frequent (99-80%) HP:0009804
11 split hand 58 31 hallmark (90%) Very frequent (99-80%) HP:0001171
12 nail dystrophy 58 31 hallmark (90%) Very frequent (99-80%) HP:0008404
13 nail pits 58 31 hallmark (90%) Very frequent (99-80%) HP:0001803
14 split foot 58 31 hallmark (90%) Very frequent (99-80%) HP:0001839
15 sparse and thin eyebrow 31 hallmark (90%) HP:0000535
16 photophobia 58 31 frequent (33%) Frequent (79-30%) HP:0000613
17 renal hypoplasia/aplasia 58 31 frequent (33%) Frequent (79-30%) HP:0008678
18 aplasia/hypoplasia of the skin 58 31 frequent (33%) Frequent (79-30%) HP:0008065
19 hydronephrosis 58 31 frequent (33%) Frequent (79-30%) HP:0000126
20 generalized hypopigmentation 58 31 frequent (33%) Frequent (79-30%) HP:0007513
21 keratitis 58 31 frequent (33%) Frequent (79-30%) HP:0000491
22 blepharitis 58 31 frequent (33%) Frequent (79-30%) HP:0000498
23 corneal erosion 58 31 frequent (33%) Frequent (79-30%) HP:0200020
24 urethral atresia 58 31 frequent (33%) Frequent (79-30%) HP:0000068
25 slow-growing hair 58 31 frequent (33%) Frequent (79-30%) HP:0002217
26 intellectual disability 58 31 occasional (7.5%) Occasional (29-5%) HP:0001249
27 sensorineural hearing impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0000407
28 short stature 58 31 occasional (7.5%) Occasional (29-5%) HP:0004322
29 cleft palate 58 31 occasional (7.5%) Occasional (29-5%) HP:0000175
30 hypohidrosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000966
31 aplasia/hypoplasia of the nipples 58 31 occasional (7.5%) Occasional (29-5%) HP:0006709
32 nevus 58 31 occasional (7.5%) Occasional (29-5%) HP:0003764
33 external ear malformation 58 31 occasional (7.5%) Occasional (29-5%) HP:0008572
34 choanal atresia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000453
35 vesicoureteral reflux 58 31 occasional (7.5%) Occasional (29-5%) HP:0000076
36 fine hair 58 31 occasional (7.5%) Occasional (29-5%) HP:0002213
37 lymphoma 58 31 occasional (7.5%) Occasional (29-5%) HP:0002665
38 hypoplasia of the thymus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000778
39 hypospadias 58 31 occasional (7.5%) Occasional (29-5%) HP:0000047
40 finger syndactyly 58 31 occasional (7.5%) Occasional (29-5%) HP:0006101
41 proximal placement of thumb 58 31 occasional (7.5%) Occasional (29-5%) HP:0009623
42 toe syndactyly 58 31 occasional (7.5%) Occasional (29-5%) HP:0001770
43 abnormality of the middle ear 58 31 occasional (7.5%) Occasional (29-5%) HP:0000370
44 aplasia/hypoplasia of the thumb 58 31 occasional (7.5%) Occasional (29-5%) HP:0009601
45 xerostomia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000217
46 aplasia/hypoplasia of the breasts 58 31 occasional (7.5%) Occasional (29-5%) HP:0010311
47 entropion 58 31 occasional (7.5%) Occasional (29-5%) HP:0000621
48 decreased response to growth hormone stimuation test 31 occasional (7.5%) HP:0000824
49 inguinal hernia 31 HP:0000023
50 hypertelorism 31 HP:0000316

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Head And Neck Eyes:
photophobia
blue irides
blepharophimosis
blepharitis
sparse eyelashes
more
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

Endocrine Features:
growth hormone deficiency
central diabetes insipidus
hypogonadotropic hypogonadism

Genitourinary Internal Genitalia Female:
transverse vaginal septum

Head And Neck Ears:
hearing loss
small auricles
malformed auricles

Head And Neck Nose:
flat nasal tip

Skin Nails Hair Nails:
dystophic nails
pitted nails

Head And Neck Teeth:
microdontia
selective tooth agenesis
caries

Genitourinary Internal Genitalia Male:
cryptorchidism

Respiratory Nasopharynx:
choanal atresia

Genitourinary Kidneys:
hydronephrosis
renal agenesis
renal dysplasia
duplicated collecting system

Skeletal Hands:
ectrodactyly
syndactyly

Skin Nails Hair Hair:
sparse eyelashes
sparse axillary hair
sparse pubic hair
sparse eyebrows
light colored hair
more
Neurologic Central Nervous System:
semilobar holoprosencephaly
mental retardation (7%)

Head And Neck Face:
maxillary hypoplasia
mild malar hypoplasia

Skin Nails Hair Skin:
fair skin
mild hyperkeratosis

Genitourinary Bladder:
bladder diverticula

Clinical features from OMIM®:

129900 (Updated 20-May-2021)

UMLS symptoms related to Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/palate Syndrome 1:


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 1

Cochrane evidence based reviews: ectrodactyly-cleft lip-palate syndrome

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

Genetic tests related to Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/palate Syndrome 1:

# Genetic test Affiliating Genes
1 Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/palate Syndrome 1 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 1:

40
Eye, Thymus, Heart, Lung, Pituitary, Bone, Ovary

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

Articles related to Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/palate Syndrome 1:

(show top 50) (show all 216)
# Title Authors PMID Year
1
Phenotypic analysis of Arg227 mutations of TP63 with emphasis on dental phenotype and micturition difficulties in EEC syndrome. 6 61
21204238 2011
2
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 61
19903181 2010
3
EEC syndrome, Arg227Gln TP63 mutation and micturition difficulties: Is there a genotype-phenotype correlation? 6 61
17431922 2007
4
Further phenotypic and genetic variation in ADULT syndrome. 61 6
17041931 2006
5
EEC syndrome type 3 with a heterozygous germline mutation in the P63 gene and B cell lymphoma. 61 6
12838557 2003
6
p63 Gene mutations in eec syndrome, limb-mammary syndrome, and isolated split hand-split foot malformation suggest a genotype-phenotype correlation. 6 61
11462173 2001
7
Split-hand/split-foot malformation is caused by mutations in the p63 gene on 3q27. 6 61
10839977 2000
8
Heterozygous germline mutations in the p53 homolog p63 are the cause of EEC syndrome. 61 6
10535733 1999
9
Hypoplastic thymus and T-cell reduction in EECUT syndrome. 57 61
9066885 1997
10
Ectrodactyly-ectodermal dysplasia-clefting syndrome and hypothalamo-pituitary insufficiency. 6 61
9028452 1997
11
EEC syndrome and genitourinary anomalies: an update. 6 61
8737655 1996
12
Ectodermal dysplasia, Rapp-Hodgkin type in a mother and severe ectrodactyly-ectodermal dysplasia-clefting syndrome (EEC) in her child. 61 57
8737656 1996
13
The EEC syndrome: a literature study. 57 61
8723561 1996
14
Twenty-four cases of the EEC syndrome: clinical presentation and management. 57 61
8544192 1995
15
Anal atresia and abdominal wall defect as unusual symptoms in EEC syndrome. 61 57
7546455 1995
16
Split hand/split foot deformity and LADD syndrome in a family: overlap between the EEC and LADD syndromes. 57 61
8411061 1993
17
The breakpoints of the EEC syndrome (ectrodactyly, ectodermal dysplasia and cleft lip/palate) confirmed to 7q11.21 and 9p12 by fluorescence in situ hybridization. 61 57
8403456 1993
18
Prenatal transvaginal diagnosis of the ectrodactyly, ectodermal dysplasia, cleft palate (EEC) syndrome. 61 57
8372078 1993
19
Normal immunological status in four patients with ectrodactyly-ectodermal dysplasia-clefting syndrome (EEC-syndrome). 61 57
8500261 1993
20
Urinary tract involvement in EEC syndrome: a clinical study in 25 Brazilian patients. 61 57
1481851 1992
21
EEC syndrome (ectrodactyly, ectodermal dysplasia and cleft lip/palate) is on 7p11.2-q21.3. 57 61
1424230 1992
22
Ectrodactyly-ectodermal dysplasia-clefting syndrome (EEC): the clinical variation and prenatal diagnosis. 61 57
1756598 1991
23
EEC syndrome (ectrodactyly, ectodermal dysplasia and cleft lip/palate) with a balanced reciprocal translocation between 7q11.21 and 9p12 (or 7p11.2 and 9q12) in three generations. 57 61
1773535 1991
24
Dilemmas in counselling: the EEC syndrome. 57 61
2074560 1990
25
EEC syndrome: report on 20 new patients, clinical and genetic considerations. 57 61
2240042 1990
26
EEC syndrome without ectrodactyly: report of two new families. 61 57
2325090 1990
27
Choanal atresia as a feature of ectrodactyly-ectodermal dysplasia-clefting (EEC) syndrome: a further case. 61 57
2325099 1990
28
Choanal atresia as a feature of ectrodactyly-ectodermal dysplasia-clefting (EEC) syndrome. 57 61
2553970 1989
29
Genitourinary anomalies are a component manifestation in the ectodermal dysplasia, ectrodactyly, cleft lip/palate (EEC) syndrome. 57 61
3278611 1988
30
Urinary tract involvement in EEC syndrome. 61 57
4061420 1985
31
EEC syndrome without ectrodactyly? Report of 8 cases. 61 57
4042394 1985
32
Ectrodactyly-ectodermal dysplasia-clefting (EEC) syndrome: dominant inheritance and variable expression. 57 61
957377 1976
33
Ectrodactyly, ectodermal dysplasia and cleft palate (EEC syndrome). Report of a family and review of the literature. 57 61
1261073 1976
34
The EEC syndrome. Report of six patients. 61 57
4425508 1974
35
Use of Targeted Exome Sequencing for Molecular Diagnosis of Skeletal Disorders. 6
26380986 2015
36
Split hand foot malformation with whorl-like pigmentary pattern: phenotypic expression of somatic mosaicism for the p63 mutation. 6
18792980 2008
37
The Rapp-Hodgkin syndrome results from mutations of the TP63 gene. 6
12939657 2003
38
Non-Hodgkin's lymphoma in a patient with ectrodactyly ectodermal dysplasia-clefting syndrome. 6
10936828 2000
39
Syndromic ectrodactyly with severe limb, ectodermal, urogenital, and palatal defects maps to chromosome 19. 6
9443880 1998
40
Physical mapping of the split hand/split foot locus on chromosome 7 and implication in syndromic ectrodactyly. 57
7987313 1994
41
Growth hormone deficiency associated with the ectrodactyly-ectodermal dysplasia-clefting syndrome and isolated absent septum pellucidum. 57
3822641 1987
42
Updating a diagnosis. The EEC/EECUT syndrome. 57
4061418 1985
43
[Ectrodactyly, ectodermal dysplasia, and cleft lip and palate: an hereditary syndrome with an autosomal dominant mode of inheritance (author's transl)]. 57
4801123 1973
44
The lobster claw defect with ectodermal defects, cleft lip-palate, tear duct anomaly and renal anomalies. 57
4800520 1973
45
The syndrome of ectrodactyly, ectodermal dysplasia and cleft lip and palate: report of a family demonstrating a dominant inheritance pattern. 57
5084380 1972
46
Association of ectrodactyly, ectodermal dysplasia, and cleft lip-palate. 57
5454938 1970
47
Mesoectodermal dysplasia. A new combination of anomalies. 57
6066655 1967
48
THE SYNDROMES OF CLEFT LIP, CLEFT PALATE AND LOBSTER-CLAW DEFORMITIES OF HANDS AND FEET. 57
14103017 1963
49
Ectodermal dysplasia. 57
14494246 1961
50
Digital Transfer for Hand Reconstruction in Cleft Hand and Foot Differences. 61
33598896 2021

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

ClinVar genetic disease variations for Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/palate Syndrome 1:

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.1028G>A (p.Arg343Gln) SNV Pathogenic 6534 rs121908841 GRCh37: 3:189586404-189586404
GRCh38: 3:189868615-189868615
9 TP63 NM_003722.5(TP63):c.1052A>G (p.Asp351Gly) SNV Pathogenic 6541 rs121908844 GRCh37: 3:189586428-189586428
GRCh38: 3:189868639-189868639
10 TP63 NM_003722.5(TP63):c.740A>G (p.His247Arg) SNV Pathogenic 208163 rs864621968 GRCh37: 3:189582181-189582181
GRCh38: 3:189864392-189864392
11 TP63 NM_003722.5(TP63):c.953G>A (p.Arg318His) SNV Pathogenic 6533 rs121908840 GRCh37: 3:189585692-189585692
GRCh38: 3:189867903-189867903
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.*1846C>T SNV Uncertain significance 344417 rs886058234 GRCh37: 3:189614137-189614137
GRCh38: 3:189896348-189896348
16 TP63 NM_003722.5(TP63):c.*1181T>C SNV Uncertain significance 344409 rs565556454 GRCh37: 3:189613472-189613472
GRCh38: 3:189895683-189895683
17 TP63 NM_003722.5(TP63):c.*1217T>C SNV Uncertain significance 344410 rs886058231 GRCh37: 3:189613508-189613508
GRCh38: 3:189895719-189895719
18 TP63 NM_003722.5(TP63):c.*295T>A SNV Uncertain significance 344396 rs886058226 GRCh37: 3:189612586-189612586
GRCh38: 3:189894797-189894797
19 TP63 NM_003722.5(TP63):c.*2009T>C SNV Uncertain significance 344422 rs886058236 GRCh37: 3:189614300-189614300
GRCh38: 3:189896511-189896511
20 TP63 NM_003722.5(TP63):c.*232T>C SNV Uncertain significance 344395 rs569527175 GRCh37: 3:189612523-189612523
GRCh38: 3:189894734-189894734
21 TP63 NM_003722.5(TP63):c.1644C>T (p.Ser548=) SNV Uncertain significance 344388 rs763019843 GRCh37: 3:189607265-189607265
GRCh38: 3:189889476-189889476
22 TP63 NM_003722.5(TP63):c.*2273A>G SNV Uncertain significance 344429 rs886058239 GRCh37: 3:189614564-189614564
GRCh38: 3:189896775-189896775
23 TP63 NM_003722.5(TP63):c.*1702G>A SNV Uncertain significance 344415 rs886058232 GRCh37: 3:189613993-189613993
GRCh38: 3:189896204-189896204
24 LOC111162620 , TP63 NM_003722.5(TP63):c.-65C>T SNV Uncertain significance 344378 rs886058220 GRCh37: 3:189349240-189349240
GRCh38: 3:189631451-189631451
25 TP63 NM_003722.5(TP63):c.*1959A>T SNV Uncertain significance 344420 rs527726173 GRCh37: 3:189614250-189614250
GRCh38: 3:189896461-189896461
26 TP63 NM_003722.5(TP63):c.*2205A>G SNV Uncertain significance 344427 rs886058238 GRCh37: 3:189614496-189614496
GRCh38: 3:189896707-189896707
27 TP63 NM_003722.5(TP63):c.1994T>G (p.Met665Arg) SNV Uncertain significance 344391 rs886058223 GRCh37: 3:189612242-189612242
GRCh38: 3:189894453-189894453
28 TP63 NM_003722.5(TP63):c.*2155G>A SNV Uncertain significance 344425 rs573673077 GRCh37: 3:189614446-189614446
GRCh38: 3:189896657-189896657
29 TP63 NM_003722.5(TP63):c.*966C>T SNV Uncertain significance 344406 rs539983621 GRCh37: 3:189613257-189613257
GRCh38: 3:189895468-189895468
30 TP63 NM_003722.5(TP63):c.*2197C>A SNV Uncertain significance 344426 rs886058237 GRCh37: 3:189614488-189614488
GRCh38: 3:189896699-189896699
31 TP63 NM_003722.5(TP63):c.899C>A (p.Thr300Lys) SNV Uncertain significance 344385 rs886058222 GRCh37: 3:189585638-189585638
GRCh38: 3:189867849-189867849
32 TP63 NM_003722.5(TP63):c.*382A>G SNV Uncertain significance 344398 rs886058227 GRCh37: 3:189612673-189612673
GRCh38: 3:189894884-189894884
33 TP63 NM_003722.5(TP63):c.*1472A>G SNV Uncertain significance 344413 rs375551286 GRCh37: 3:189613763-189613763
GRCh38: 3:189895974-189895974
34 TP63 NM_003722.5(TP63):c.*1164A>G SNV Uncertain significance 344408 rs886058230 GRCh37: 3:189613455-189613455
GRCh38: 3:189895666-189895666
35 TP63 NM_003722.5(TP63):c.409G>C (p.Asp137His) SNV Uncertain significance 344381 rs762935508 GRCh37: 3:189526145-189526145
GRCh38: 3:189808356-189808356
36 TP63 NM_003722.5(TP63):c.*803G>A SNV Uncertain significance 344404 rs544230654 GRCh37: 3:189613094-189613094
GRCh38: 3:189895305-189895305
37 TP63 NM_003722.5(TP63):c.*221G>A SNV Uncertain significance 344393 rs886058224 GRCh37: 3:189612512-189612512
GRCh38: 3:189894723-189894723
38 TP63 NM_003722.5(TP63):c.*101C>T SNV Uncertain significance 344392 rs574438859 GRCh37: 3:189612392-189612392
GRCh38: 3:189894603-189894603
39 TP63 NM_003722.5(TP63):c.766+3A>G SNV Uncertain significance 344383 rs886058221 GRCh37: 3:189582210-189582210
GRCh38: 3:189864421-189864421
40 TP63 NM_003722.5(TP63):c.*2357C>A SNV Uncertain significance 899439 GRCh37: 3:189614648-189614648
GRCh38: 3:189896859-189896859
41 TP63 NM_003722.5(TP63):c.*736T>G SNV Uncertain significance 900279 GRCh37: 3:189613027-189613027
GRCh38: 3:189895238-189895238
42 TP63 NM_003722.5(TP63):c.*759G>A SNV Uncertain significance 900280 GRCh37: 3:189613050-189613050
GRCh38: 3:189895261-189895261
43 TP63 NM_003722.5(TP63):c.*1169T>C SNV Uncertain significance 900343 GRCh37: 3:189613460-189613460
GRCh38: 3:189895671-189895671
44 TP63 NM_003722.5(TP63):c.*1437C>G SNV Uncertain significance 900398 GRCh37: 3:189613728-189613728
GRCh38: 3:189895939-189895939
45 LOC111162620 , TP63 NM_003722.5(TP63):c.-87C>T SNV Uncertain significance 900929 GRCh37: 3:189349218-189349218
GRCh38: 3:189631429-189631429
46 TP63 NM_003722.5(TP63):c.1528A>T (p.Met510Leu) SNV Uncertain significance 802036 rs769778189 GRCh37: 3:189607149-189607149
GRCh38: 3:189889360-189889360
47 TP63 NM_003722.5(TP63):c.*820C>T SNV Uncertain significance 902899 GRCh37: 3:189613111-189613111
GRCh38: 3:189895322-189895322
48 TP63 NM_003722.5(TP63):c.1523C>T (p.Thr508Ile) SNV Uncertain significance 903554 GRCh37: 3:189607144-189607144
GRCh38: 3:189889355-189889355
49 TP63 NM_003722.5(TP63):c.1880G>A (p.Ser627Asn) SNV Uncertain significance 901670 GRCh37: 3:189612128-189612128
GRCh38: 3:189894339-189894339
50 TP63 NM_003722.5(TP63):c.*280G>A SNV Uncertain significance 901188 GRCh37: 3:189612571-189612571
GRCh38: 3:189894782-189894782

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 1.

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

Pathways related to Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/palate Syndrome 1 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
10.3 TP63 TP53
2 9.53 TP63 IRF6

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

Biological processes related to Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/palate Syndrome 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cell aging GO:0007569 9.26 TP63 TP53
2 positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway GO:1900740 9.16 TP63 TP53
3 protein tetramerization GO:0051262 8.96 TP63 TP53
4 cranial skeletal system development GO:1904888 8.62 TP63 IRF6

Molecular functions related to Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/palate Syndrome 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 MDM2/MDM4 family protein binding GO:0097371 8.62 TP63 TP53

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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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