EEC1
MCID: ECT100
MIFTS: 52

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
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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 71
Eec Syndrome 11 19 58 75 14
Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip-Palate Syndrome 1 11 28 14
Rudiger Syndrome 1 11 19 71
Ectrodactyly-Ectodermal Dysplasia-Cleft Lip/palate Syndrome 19 58
Walker-Clodius Syndrome 11 19
Eec Syndrome 1 57 11
Eec Syndrome-1 57 12
Eec1 57 11
Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip-Palate Syndrome 11
Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/palate Syndrome 38
Ectrodactyly-Ectodermal Dysplasia-Cleft Lip/cleft Palate 19
Ectrodactyly-Ectodermal Dysplasia-Clefting Syndrome 19
Ectrodactyly, Ectodermal Dysplasia, Clefting Syndrome 5
Ectrodactyly-Ectodermal Dysplasia-Clefting Syndrome 11
Ectrodactyly-Cleft Lip/palate Syndrome 19
Ectrodactyly-Cleft Lip-Palate Syndrome 43
Eec 57

Characteristics:


Inheritance:

Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/palate Syndrome 1: Autosomal dominant 57
Eec Syndrome: Autosomal dominant 58

Prevelance:

Eec Syndrome: 1-9/100000 (Europe, Europe) 58

Age Of Onset:

Eec Syndrome: Antenatal,Neonatal 58

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
genetic heterogeneity
two loci described - eec1 and eec3
majority of eec cases appear to be secondary to tp63 mutations


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: 19 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 genetic changes in the TP63 gene. The of individuals with EEC syndrome are thought to have a genetic change in a region on chromosome 7, known as EEC syndrome type 1 (EEC1). EEC syndrome is inherited in an autosomal dominant manner.

MalaCards based summary: Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/palate Syndrome 1, also known as eec syndrome, is related to cleft lip and cleft lip/palate, 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 mTOR Signaling and Head and neck squamous cell carcinoma. Affiliated tissues include skin, eye and bone, and related phenotypes are carious teeth and thick eyebrow

Disease Ontology 11 Eec syndrome: A syndrome characterized by ectrodactyly, ectodermal dysplasia, and orofacial clefts (cleft lip-palate).

Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 1: An EEC syndrome characterized by autosomal dominant inheritance that has material basis in variation in the chromosome region 7q11.2-q21.3.

Orphanet: 58 EEC syndrome is a genetic developmental disorder characterized by ectrodactyly, ectodermal dysplasia, and orofacial clefts (cleft lip/palate).

Wikipedia: 75 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 204)
# Related Disease Score Top Affiliating Genes
1 cleft lip 32.0 TP63 NECTIN1 EEC1
2 cleft lip/palate 32.0 TP63 NECTIN1 EEC1
3 bladder exstrophy-epispadias-cloacal exstrophy complex 11.5
4 ectrodactyly and ectodermal dysplasia without cleft lip/palate 11.5
5 rudiger syndrome 11.2
6 eec syndrome and related disorders 11.1
7 ectodermal dysplasia 11.1
8 bladder exstrophy 11.1
9 adult syndrome 11.0
10 ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 11.0
11 hartsfield syndrome 10.9
12 cloacal exstrophy 10.9
13 isolated epispadias 10.9
14 split hand-foot malformation 10.8
15 isolated split hand-split foot malformation 10.8
16 split-hand/foot malformation 1 10.8
17 keratopathy 10.5
18 hypogonadotropic hypogonadism 7 with or without anosmia 10.4
19 pili torti, early-onset 10.4
20 isolated growth hormone deficiency 10.4
21 hypogonadotropic hypogonadism 10.4
22 corneal disease 10.4
23 hypopituitarism 10.4
24 growth hormone deficiency 10.4
25 cleft palate, isolated 10.4
26 dandy-walker syndrome 10.4
27 hydronephrosis 10.4
28 congenital hemidysplasia with ichthyosiform erythroderma and limb defects 10.4
29 dental caries 10.4
30 children's interstitial lung disease 10.4
31 microtia 10.4
32 chromosome 2q35 duplication syndrome 10.3
33 cleft lip and alveolus 10.3 TP63 NECTIN1
34 isolated cleft lip 10.3 TP63 NECTIN1
35 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a 10.3
36 orofacial clefting syndrome 10.3
37 diabetes insipidus, neurohypophyseal 10.3
38 keratitis, hereditary 10.3
39 otitis media 10.3
40 septooptic dysplasia 10.3
41 charge syndrome 10.3
42 pierre robin syndrome 10.3
43 dermatitis, atopic 10.3
44 microcephaly 10.3
45 adult respiratory distress syndrome 10.3
46 fissured tongue 10.3
47 corneal degeneration 10.3
48 entropion 10.3
49 hypothyroidism 10.3
50 candidiasis 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 30 (show top 50) (show all 98)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 carious teeth 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000670
2 thick eyebrow 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000574
3 coarse hair 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0002208
4 hyperkeratosis 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000962
5 microdontia 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000691
6 dry skin 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000958
7 lacrimation abnormality 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000632
8 taurodontia 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000679
9 split hand 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001171
10 nail dystrophy 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0008404
11 sparse eyebrow 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0045075
12 nail pits 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001803
13 split foot 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001839
14 tooth agenesis 30 Hallmark (90%) HP:0009804
15 abnormal dental enamel morphology 30 Hallmark (90%) HP:0000682
16 photophobia 58 30 Frequent (33%) Frequent (79-30%)
HP:0000613
17 renal hypoplasia/aplasia 58 30 Frequent (33%) Frequent (79-30%)
HP:0008678
18 aplasia/hypoplasia of the skin 58 30 Frequent (33%) Frequent (79-30%)
HP:0008065
19 hydronephrosis 58 30 Frequent (33%) Frequent (79-30%)
HP:0000126
20 generalized hypopigmentation 58 30 Frequent (33%) Frequent (79-30%)
HP:0007513
21 keratitis 58 30 Frequent (33%) Frequent (79-30%)
HP:0000491
22 blepharitis 58 30 Frequent (33%) Frequent (79-30%)
HP:0000498
23 corneal erosion 58 30 Frequent (33%) Frequent (79-30%)
HP:0200020
24 urethral atresia 58 30 Frequent (33%) Frequent (79-30%)
HP:0000068
25 slow-growing hair 58 30 Frequent (33%) Frequent (79-30%)
HP:0002217
26 intellectual disability 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001249
27 sensorineural hearing impairment 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000407
28 short stature 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0004322
29 cleft palate 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000175
30 hypohidrosis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000966
31 aplasia/hypoplasia of the nipples 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0006709
32 nevus 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0003764
33 external ear malformation 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0008572
34 abnormality of the inner ear 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000359
35 choanal atresia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000453
36 vesicoureteral reflux 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000076
37 fine hair 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002213
38 lymphoma 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002665
39 hypoplasia of the thymus 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000778
40 hypospadias 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000047
41 finger syndactyly 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0006101
42 proximal placement of thumb 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0009623
43 toe syndactyly 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001770
44 abnormality of the middle ear 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000370
45 aplasia/hypoplasia of the thumb 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0009601
46 xerostomia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000217
47 aplasia/hypoplasia of the breasts 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0010311
48 entropion 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000621
49 decreased response to growth hormone stimulation test 30 Occasional (7.5%) HP:0000824
50 inguinal hernia 30 HP:0000023

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Head And Neck Eyes:
photophobia
blepharophimosis
blue irides
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

Skin Nails Hair Nails:
dystrophic nails
pitted nails

Genitourinary Bladder:
bladder diverticula

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

Head And Neck Nose:
flat nasal tip

Clinical features from OMIM®:

129900 (Updated 08-Dec-2022)

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 28

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

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

MalaCards : Skin, Eye, Bone, Kidney, Thymus, Tongue, Pituitary

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 283)
# Title Authors PMID Year
1
Phenotypic analysis of Arg227 mutations of TP63 with emphasis on dental phenotype and micturition difficulties in EEC syndrome. 62 5
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. 62 5
19903181 2010
3
EEC syndrome, Arg227Gln TP63 mutation and micturition difficulties: Is there a genotype-phenotype correlation? 62 5
17431922 2007
4
Further phenotypic and genetic variation in ADULT syndrome. 62 5
17041931 2006
5
The Rapp-Hodgkin syndrome results from mutations of the TP63 gene. 62 5
12939657 2003
6
EEC syndrome type 3 with a heterozygous germline mutation in the P63 gene and B cell lymphoma. 62 5
12838557 2003
7
p63 Gene mutations in eec syndrome, limb-mammary syndrome, and isolated split hand-split foot malformation suggest a genotype-phenotype correlation. 62 5
11462173 2001
8
Non-Hodgkin's lymphoma in a patient with ectrodactyly ectodermal dysplasia-clefting syndrome. 62 5
10936828 2000
9
Split-hand/split-foot malformation is caused by mutations in the p63 gene on 3q27. 62 5
10839977 2000
10
Heterozygous germline mutations in the p53 homolog p63 are the cause of EEC syndrome. 62 5
10535733 1999
11
Hypoplastic thymus and T-cell reduction in EECUT syndrome. 62 57
9066885 1997
12
Ectrodactyly-ectodermal dysplasia-clefting syndrome and hypothalamo-pituitary insufficiency. 62 5
9028452 1997
13
EEC syndrome and genitourinary anomalies: an update. 62 5
8737655 1996
14
Ectodermal dysplasia, Rapp-Hodgkin type in a mother and severe ectrodactyly-ectodermal dysplasia-clefting syndrome (EEC) in her child. 62 57
8737656 1996
15
The EEC syndrome: a literature study. 62 57
8723561 1996
16
Twenty-four cases of the EEC syndrome: clinical presentation and management. 62 57
8544192 1995
17
Anal atresia and abdominal wall defect as unusual symptoms in EEC syndrome. 62 57
7546455 1995
18
Split hand/split foot deformity and LADD syndrome in a family: overlap between the EEC and LADD syndromes. 62 57
8411061 1993
19
The breakpoints of the EEC syndrome (ectrodactyly, ectodermal dysplasia and cleft lip/palate) confirmed to 7q11.21 and 9p12 by fluorescence in situ hybridization. 62 57
8403456 1993
20
Prenatal transvaginal diagnosis of the ectrodactyly, ectodermal dysplasia, cleft palate (EEC) syndrome. 62 57
8372078 1993
21
Normal immunological status in four patients with ectrodactyly-ectodermal dysplasia-clefting syndrome (EEC-syndrome). 62 57
8500261 1993
22
Urinary tract involvement in EEC syndrome: a clinical study in 25 Brazilian patients. 62 57
1481851 1992
23
EEC syndrome (ectrodactyly, ectodermal dysplasia and cleft lip/palate) is on 7p11.2-q21.3. 62 57
1424230 1992
24
Ectrodactyly-ectodermal dysplasia-clefting syndrome (EEC): the clinical variation and prenatal diagnosis. 62 57
1756598 1991
25
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. 62 57
1773535 1991
26
Dilemmas in counselling: the EEC syndrome. 62 57
2074560 1990
27
EEC syndrome: report on 20 new patients, clinical and genetic considerations. 62 57
2240042 1990
28
Choanal atresia as a feature of ectrodactyly-ectodermal dysplasia-clefting (EEC) syndrome: a further case. 62 57
2325099 1990
29
EEC syndrome without ectrodactyly: report of two new families. 62 57
2325090 1990
30
Choanal atresia as a feature of ectrodactyly-ectodermal dysplasia-clefting (EEC) syndrome. 62 57
2553970 1989
31
Genitourinary anomalies are a component manifestation in the ectodermal dysplasia, ectrodactyly, cleft lip/palate (EEC) syndrome. 62 57
3278611 1988
32
Growth hormone deficiency associated with the ectrodactyly-ectodermal dysplasia-clefting syndrome and isolated absent septum pellucidum. 62 57
3822641 1987
33
Urinary tract involvement in EEC syndrome. 62 57
4061420 1985
34
EEC syndrome without ectrodactyly? Report of 8 cases. 62 57
4042394 1985
35
Ectrodactyly-ectodermal dysplasia-clefting (EEC) syndrome: dominant inheritance and variable expression. 62 57
957377 1976
36
Ectrodactyly, ectodermal dysplasia and cleft palate (EEC syndrome). Report of a family and review of the literature. 62 57
1261073 1976
37
The EEC syndrome. Report of six patients. 62 57
4425508 1974
38
Whole-Exome Sequencing Enables a Precision Medicine Approach for Kidney Transplant Recipients. 5
30655312 2019
39
Use of Targeted Exome Sequencing for Molecular Diagnosis of Skeletal Disorders. 5
26380986 2015
40
Split hand foot malformation with whorl-like pigmentary pattern: phenotypic expression of somatic mosaicism for the p63 mutation. 5
18792980 2008
41
Syndromic ectrodactyly with severe limb, ectodermal, urogenital, and palatal defects maps to chromosome 19. 5
9443880 1998
42
Physical mapping of the split hand/split foot locus on chromosome 7 and implication in syndromic ectrodactyly. 57
7987313 1994
43
Updating a diagnosis. The EEC/EECUT syndrome. 57
4061418 1985
44
[Ectrodactyly, ectodermal dysplasia, and cleft lip and palate: an hereditary syndrome with an autosomal dominant mode of inheritance (author's transl)]. 57
4801123 1973
45
The lobster claw defect with ectodermal defects, cleft lip-palate, tear duct anomaly and renal anomalies. 57
4800520 1973
46
The syndrome of ectrodactyly, ectodermal dysplasia and cleft lip and palate: report of a family demonstrating a dominant inheritance pattern. 57
5084380 1972
47
Association of ectrodactyly, ectodermal dysplasia, and cleft lip-palate. 57
5454938 1970
48
Mesoectodermal dysplasia. A new combination of anomalies. 57
6066655 1967
49
THE SYNDROMES OF CLEFT LIP, CLEFT PALATE AND LOBSTER-CLAW DEFORMITIES OF HANDS AND FEET. 57
14103017 1963
50
Ectodermal dysplasia. 57
14494246 1961

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

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

5 (show top 50) (show all 111)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 TP63 NM_003722.5(TP63):c.728G>A (p.Arg243Gln) SNV Pathogenic
6528 rs121908836 GRCh37: 3:189582169-189582169
GRCh38: 3:189864380-189864380
2 TP63 NM_003722.5(TP63):c.1033T>C (p.Cys345Arg) SNV Pathogenic
6529 rs121908837 GRCh37: 3:189586409-189586409
GRCh38: 3:189868620-189868620
3 TP63 NM_003722.5(TP63):c.1691dup (p.Tyr564Ter) DUP Pathogenic
6530 GRCh37: 3:189608615-189608616
GRCh38: 3:189890826-189890827
4 TP63 NM_003722.5(TP63):c.953G>A (p.Arg318His) SNV Pathogenic
6533 rs121908840 GRCh37: 3:189585692-189585692
GRCh38: 3:189867903-189867903
5 TP63 NM_003722.5(TP63):c.1052A>G (p.Asp351Gly) SNV Pathogenic
6541 rs121908844 GRCh37: 3:189586428-189586428
GRCh38: 3:189868639-189868639
6 TP63 NM_003722.5(TP63):c.797G>C (p.Arg266Pro) SNV Pathogenic
30348 GRCh37: 3:189584501-189584501
GRCh38: 3:189866712-189866712
7 TP63 NM_003722.5(TP63):c.1037C>G (p.Ala346Gly) SNV Pathogenic
208418 rs797044484 GRCh37: 3:189586413-189586413
GRCh38: 3:189868624-189868624
8 TP63 NM_003722.5(TP63):c.740A>G (p.His247Arg) SNV Pathogenic
208163 rs864621968 GRCh37: 3:189582181-189582181
GRCh38: 3:189864392-189864392
9 TP63 NM_003722.5(TP63):c.1350-75_1492del DEL Pathogenic
635754 rs1577195893 GRCh37: 3:189604107-189604324
GRCh38: 3:189886318-189886535
10 TP63 NM_003722.5(TP63):c.727C>T (p.Arg243Trp) SNV Pathogenic
6527 rs121908835 GRCh37: 3:189582168-189582168
GRCh38: 3:189864379-189864379
11 TP63 NM_003722.5(TP63):c.1012C>T (p.Arg338Cys) SNV Likely Pathogenic
1344645 GRCh37: 3:189586388-189586388
GRCh38: 3:189868599-189868599
12 TP63 NM_003722.5(TP63):c.1028G>A (p.Arg343Gln) SNV Likely Pathogenic
6534 rs121908841 GRCh37: 3:189586404-189586404
GRCh38: 3:189868615-189868615
13 TP63 NM_003722.5(TP63):c.797G>A (p.Arg266Gln) SNV Likely Pathogenic
6550 rs121908849 GRCh37: 3:189584501-189584501
GRCh38: 3:189866712-189866712
14 TP63 NM_003722.5(TP63):c.1685T>C (p.Leu562Pro) SNV Likely Pathogenic
689635 rs774221257 GRCh37: 3:189608610-189608610
GRCh38: 3:189890821-189890821
15 TP63 NM_003722.5(TP63):c.739C>T (p.His247Tyr) SNV Likely Pathogenic
478110 rs1553856553 GRCh37: 3:189582180-189582180
GRCh38: 3:189864391-189864391
16 TP63 NM_003722.5(TP63):c.766+3A>G SNV Uncertain Significance
344383 rs886058221 GRCh37: 3:189582210-189582210
GRCh38: 3:189864421-189864421
17 TP63 NM_003722.5(TP63):c.1528A>T (p.Met510Leu) SNV Uncertain Significance
802036 rs769778189 GRCh37: 3:189607149-189607149
GRCh38: 3:189889360-189889360
18 TP63 NM_003722.5(TP63):c.*803G>A SNV Uncertain Significance
344404 rs544230654 GRCh37: 3:189613094-189613094
GRCh38: 3:189895305-189895305
19 TP63 NM_003722.5(TP63):c.*221G>A SNV Uncertain Significance
344393 rs886058224 GRCh37: 3:189612512-189612512
GRCh38: 3:189894723-189894723
20 TP63 NM_003722.5(TP63):c.*101C>T SNV Uncertain Significance
344392 rs574438859 GRCh37: 3:189612392-189612392
GRCh38: 3:189894603-189894603
21 TP63 NM_003722.5(TP63):c.*1702G>A SNV Uncertain Significance
344415 rs886058232 GRCh37: 3:189613993-189613993
GRCh38: 3:189896204-189896204
22 TP63 NM_003722.5(TP63):c.*1959A>T SNV Uncertain Significance
344420 rs527726173 GRCh37: 3:189614250-189614250
GRCh38: 3:189896461-189896461
23 TP63 NM_003722.5(TP63):c.*2205A>G SNV Uncertain Significance
344427 rs886058238 GRCh37: 3:189614496-189614496
GRCh38: 3:189896707-189896707
24 TP63 NM_003722.5(TP63):c.1994T>G (p.Met665Arg) SNV Uncertain Significance
344391 rs886058223 GRCh37: 3:189612242-189612242
GRCh38: 3:189894453-189894453
25 TP63 NM_003722.5(TP63):c.*2155G>A SNV Uncertain Significance
344425 rs573673077 GRCh37: 3:189614446-189614446
GRCh38: 3:189896657-189896657
26 TP63 NM_003722.5(TP63):c.*966C>T SNV Uncertain Significance
344406 rs539983621 GRCh37: 3:189613257-189613257
GRCh38: 3:189895468-189895468
27 TP63 NM_003722.5(TP63):c.*2197C>A SNV Uncertain Significance
344426 rs886058237 GRCh37: 3:189614488-189614488
GRCh38: 3:189896699-189896699
28 TP63 NM_003722.5(TP63):c.899C>A (p.Thr300Lys) SNV Uncertain Significance
344385 rs886058222 GRCh37: 3:189585638-189585638
GRCh38: 3:189867849-189867849
29 TP63 NM_003722.5(TP63):c.*382A>G SNV Uncertain Significance
344398 rs886058227 GRCh37: 3:189612673-189612673
GRCh38: 3:189894884-189894884
30 TP63 NM_003722.5(TP63):c.*1472A>G SNV Uncertain Significance
344413 rs375551286 GRCh37: 3:189613763-189613763
GRCh38: 3:189895974-189895974
31 TP63 NM_003722.5(TP63):c.*1164A>G SNV Uncertain Significance
344408 rs886058230 GRCh37: 3:189613455-189613455
GRCh38: 3:189895666-189895666
32 TP63 NM_003722.5(TP63):c.409G>C (p.Asp137His) SNV Uncertain Significance
344381 rs762935508 GRCh37: 3:189526145-189526145
GRCh38: 3:189808356-189808356
33 LOC111162620, TP63 NM_003722.5(TP63):c.-65C>T SNV Uncertain Significance
344378 rs886058220 GRCh37: 3:189349240-189349240
GRCh38: 3:189631451-189631451
34 TP63 NM_003722.5(TP63):c.*1846C>T SNV Uncertain Significance
344417 rs886058234 GRCh37: 3:189614137-189614137
GRCh38: 3:189896348-189896348
35 TP63 NM_003722.5(TP63):c.*1181T>C SNV Uncertain Significance
344409 rs565556454 GRCh37: 3:189613472-189613472
GRCh38: 3:189895683-189895683
36 TP63 NM_003722.5(TP63):c.*1217T>C SNV Uncertain Significance
344410 rs886058231 GRCh37: 3:189613508-189613508
GRCh38: 3:189895719-189895719
37 TP63 NM_003722.5(TP63):c.*295T>A SNV Uncertain Significance
344396 rs886058226 GRCh37: 3:189612586-189612586
GRCh38: 3:189894797-189894797
38 TP63 NM_003722.5(TP63):c.*2009T>C SNV Uncertain Significance
344422 rs886058236 GRCh37: 3:189614300-189614300
GRCh38: 3:189896511-189896511
39 TP63 NM_003722.5(TP63):c.*232T>C SNV Uncertain Significance
344395 rs569527175 GRCh37: 3:189612523-189612523
GRCh38: 3:189894734-189894734
40 TP63 NM_003722.5(TP63):c.1644C>T (p.Ser548=) SNV Uncertain Significance
344388 rs763019843 GRCh37: 3:189607265-189607265
GRCh38: 3:189889476-189889476
41 TP63 NM_003722.5(TP63):c.*2273A>G SNV Uncertain Significance
344429 rs886058239 GRCh37: 3:189614564-189614564
GRCh38: 3:189896775-189896775
42 TP63 NM_003722.5(TP63):c.61C>T (p.Arg21Cys) SNV Uncertain Significance
903440 rs1452651956 GRCh37: 3:189349365-189349365
GRCh38: 3:189631576-189631576
43 LOC111162620, TP63 NM_003722.5(TP63):c.-3G>C SNV Uncertain Significance
903439 rs770510830 GRCh37: 3:189349302-189349302
GRCh38: 3:189631513-189631513
44 LOC111162620, TP63 NM_003722.5(TP63):c.-38T>C SNV Uncertain Significance
902594 rs1729451583 GRCh37: 3:189349267-189349267
GRCh38: 3:189631478-189631478
45 LOC111162620, TP63 NM_003722.5(TP63):c.-87C>T SNV Uncertain Significance
900929 rs747090025 GRCh37: 3:189349218-189349218
GRCh38: 3:189631429-189631429
46 TP63 NM_003722.5(TP63):c.*820C>T SNV Uncertain Significance
902899 rs1000155602 GRCh37: 3:189613111-189613111
GRCh38: 3:189895322-189895322
47 TP63 NM_003722.5(TP63):c.1523C>T (p.Thr508Ile) SNV Uncertain Significance
903554 rs1487186623 GRCh37: 3:189607144-189607144
GRCh38: 3:189889355-189889355
48 TP63 NM_003722.5(TP63):c.1880G>A (p.Ser627Asn) SNV Uncertain Significance
901670 rs1293584292 GRCh37: 3:189612128-189612128
GRCh38: 3:189894339-189894339
49 TP63 NM_003722.5(TP63):c.802G>A (p.Glu268Lys) SNV Uncertain Significance
1333323 GRCh37: 3:189584506-189584506
GRCh38: 3:189866717-189866717
50 TP63 NM_003722.5(TP63):c.*802G>A SNV Uncertain Significance
902005 rs1202255721 GRCh37: 3:189613093-189613093
GRCh38: 3:189895304-189895304

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 11.47 RSPO1 PTEN PIK3R1
2 11 TP63 PTEN PIK3R1
3 10.25 PIK3R1 NECTIN1 AFDN

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 membranous septum morphogenesis GO:0003149 9.26 NSD2 NOG
2 anatomical structure formation involved in morphogenesis GO:0048646 9.16 TP63 NOG
3 prostatic bud formation GO:0060513 8.92 TP63 NOG

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

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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