EEC1
MCID: ECT100
MIFTS: 47

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

Categories: Genetic diseases, Nephrological diseases, Rare diseases

Aliases & Classifications for Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/palate Syndrome...

MalaCards integrated aliases for Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/palate Syndrome 1:

Name: Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/palate Syndrome 1 58 30 74
Eec Syndrome 12 77 54 15
Rudiger Syndrome 1 12 54 74
Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip-Palate Syndrome 1 12 15
Walker-Clodius Syndrome 12 54
Eec Syndrome 1 58 12
Eec1 58 12
Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip-Palate Syndrome 12
Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/palate Syndrome 41
Ectrodactyly-Ectodermal Dysplasia-Cleft Lip/palate Syndrome 54
Ectrodactyly-Ectodermal Dysplasia-Cleft Lip/cleft Palate 54
Ectrodactyly, Ectodermal Dysplasia, Cleft Lip/palate, 1 13
Ectrodactyly-Ectodermal Dysplasia-Clefting Syndrome 54
Ectrodactyly-Ectodermal Dysplasia-Clefting Syndrome 12
Ectrodactyly-Cleft Lip/palate Syndrome 54
Ectrodactyly-Cleft Lip-Palate Syndrome 45
Eec Syndrome-1 58
Eec 58

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

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


HPO:

33
ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 1:
Inheritance heterogeneous autosomal dominant inheritance


Classifications:



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

NIH Rare Diseases : 54 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 cleft lip/palate and ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3, and has symptoms including photophobia An important gene associated with Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/palate Syndrome 1 is EEC1 (Ectrodactyly, Ectodermal Dysplasia And Cleft Lip/Palate Syndrome 1), and among its related pathways/superpathways is AMPK Enzyme Complex Pathway. Affiliated tissues include skin, kidney and eye, and related phenotypes are carious teeth and thick eyebrow

Disease Ontology : 12 An autosomal dominant disease characterized by ectrodactyly, ectodermal dysplasia, and orofacial clefts (cleft lip-palate).

Wikipedia : 77 Ectrodactyly–ectodermal dysplasia–cleft syndrome, or EEC, and also referred to as EEC syndrome (also... more...

Description 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 70)
# Related Disease Score Top Affiliating Genes
1 cleft lip/palate 31.7 EEC1 TP63
2 ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 31.1 ARID1A TP63
3 ectrodactyly and ectodermal dysplasia without cleft lip/palate 11.9
4 bladder exstrophy-epispadias-cloacal exstrophy complex 11.9
5 adult syndrome 11.4
6 limb-mammary syndrome 11.4
7 exstrophy of bladder 11.3
8 rudiger syndrome 11.2
9 cleft palate, cardiac defect, genital anomalies, and ectrodactyly 11.2
10 cone-rod dystrophy and hearing loss 2 11.1
11 hartsfield syndrome 11.0
12 isolated split hand-split foot malformation 10.7
13 split-hand/foot malformation 1 10.7
14 ectodermal dysplasia 10.7
15 dermatitis 10.5
16 hypopituitarism 10.5
17 cleft lip 10.5
18 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.4
19 lymphoma, hodgkin, classic 10.4
20 pierre robin syndrome 10.4
21 yemenite deaf-blind hypopigmentation syndrome 10.4
22 lymphoma, non-hodgkin, familial 10.4
23 holoprosencephaly 10.4
24 keratopathy 10.4
25 limbal stem cell deficiency 10.4
26 aggressive periodontitis 10.4
27 folliculitis 10.4
28 periodontitis 10.4
29 absence of septum pellucidum 10.4
30 growth hormone deficiency 10.4
31 isolated pierre robin sequence 10.4
32 cleft palate, isolated 10.2
33 choanal atresia, posterior 10.0
34 papilloma 10.0
35 ankyloglossia 9.9
36 esterase c 9.9
37 lacrimoauriculodentodigital syndrome 9.9
38 ulnar-mammary syndrome 9.9
39 tetralogy of fallot 9.9
40 trigeminal neuralgia 9.9
41 white sponge nevus 1 9.9
42 polycythemia vera 9.9
43 enhanced s-cone syndrome 9.9
44 tetramelic deficiencies, ectodermal dysplasia, deformed ears, and other abnormalities 9.9
45 focal dermal hypoplasia 9.9
46 fryns microphthalmia syndrome 9.9
47 asthma 9.9
48 split-hand/foot malformation 4 9.9
49 endometrial cancer 9.9
50 lymphatic malformation 7 9.9

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:

33 (show top 50) (show all 90)
# Description HPO Frequency HPO Source Accession
1 carious teeth 33 hallmark (90%) HP:0000670
2 thick eyebrow 33 hallmark (90%) HP:0000574
3 coarse hair 33 hallmark (90%) HP:0002208
4 hyperkeratosis 33 hallmark (90%) HP:0000962
5 nail dystrophy 33 hallmark (90%) HP:0008404
6 microdontia 33 hallmark (90%) HP:0000691
7 dry skin 33 hallmark (90%) HP:0000958
8 abnormality of dental enamel 33 hallmark (90%) HP:0000682
9 lacrimation abnormality 33 hallmark (90%) HP:0000632
10 taurodontia 33 hallmark (90%) HP:0000679
11 reduced number of teeth 33 hallmark (90%) HP:0009804
12 split hand 33 hallmark (90%) HP:0001171
13 nail pits 33 hallmark (90%) HP:0001803
14 split foot 33 hallmark (90%) HP:0001839
15 sparse and thin eyebrow 33 hallmark (90%) HP:0000535
16 photophobia 33 frequent (33%) HP:0000613
17 corneal erosion 33 frequent (33%) HP:0200020
18 renal hypoplasia/aplasia 33 frequent (33%) HP:0008678
19 keratitis 33 frequent (33%) HP:0000491
20 blepharitis 33 frequent (33%) HP:0000498
21 aplasia/hypoplasia of the skin 33 frequent (33%) HP:0008065
22 generalized hypopigmentation 33 frequent (33%) HP:0007513
23 hydronephrosis 33 frequent (33%) HP:0000126
24 urethral atresia 33 frequent (33%) HP:0000068
25 slow-growing hair 33 frequent (33%) HP:0002217
26 finger syndactyly 33 occasional (7.5%) HP:0006101
27 intellectual disability 33 occasional (7.5%) HP:0001249
28 sensorineural hearing impairment 33 occasional (7.5%) HP:0000407
29 short stature 33 occasional (7.5%) HP:0004322
30 cleft palate 33 occasional (7.5%) HP:0000175
31 hypohidrosis 33 occasional (7.5%) HP:0000966
32 aplasia/hypoplasia of the nipples 33 occasional (7.5%) HP:0006709
33 nevus 33 occasional (7.5%) HP:0003764
34 external ear malformation 33 occasional (7.5%) HP:0008572
35 hypospadias 33 occasional (7.5%) HP:0000047
36 xerostomia 33 occasional (7.5%) HP:0000217
37 vesicoureteral reflux 33 occasional (7.5%) HP:0000076
38 hypoplasia of the thymus 33 occasional (7.5%) HP:0000778
39 choanal atresia 33 occasional (7.5%) HP:0000453
40 fine hair 33 occasional (7.5%) HP:0002213
41 lymphoma 33 occasional (7.5%) HP:0002665
42 toe syndactyly 33 occasional (7.5%) HP:0001770
43 proximal placement of thumb 33 occasional (7.5%) HP:0009623
44 aplasia/hypoplasia of the thumb 33 occasional (7.5%) HP:0009601
45 abnormality of the middle ear 33 occasional (7.5%) HP:0000370
46 aplasia/hypoplasia of the breasts 33 occasional (7.5%) HP:0010311
47 growth hormone deficiency 33 occasional (7.5%) HP:0000824
48 entropion 33 occasional (7.5%) HP:0000621
49 malar flattening 33 HP:0000272
50 hypertelorism 33 HP:0000316

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
photophobia
blepharitis
blue irides
blepharophimosis
sparse eyelashes
more
Head And Neck Teeth:
microdontia
selective tooth agenesis
caries

Genitourinary Ureters:
vesicoureteral reflux
ureterocele
megaureter

Genitourinary Kidneys:
hydronephrosis
renal agenesis
renal dysplasia
duplicated collecting system

Chest Breasts:
hypoplastic nipples

Skeletal Feet:
ectrodactyly
syndactyly

Endocrine Features:
growth hormone deficiency
central diabetes insipidus
hypogonadotropic hypogonadism

Head And Neck Ears:
hearing loss
small auricles
malformed auricles

Head And Neck Nose:
flat nasal tip

Genitourinary Bladder:
bladder diverticula

Neurologic Central Nervous System:
mental retardation (7%)
semilobar holoprosencephaly

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

Genitourinary Internal Genitalia Male:
cryptorchidism

Respiratory Nasopharynx:
choanal atresia

Genitourinary External Genitalia Male:
micropenis

Skeletal Hands:
ectrodactyly
syndactyly

Skin Nails Hair Hair:
sparse eyelashes
sparse pubic hair
sparse axillary hair
sparse eyebrows
light colored hair
more
Head And Neck Face:
maxillary hypoplasia
mild malar hypoplasia

Skin Nails Hair Skin:
fair skin
mild hyperkeratosis

Genitourinary Internal Genitalia Female:
transverse vaginal septum

Skin Nails Hair Nails:
dystophic nails
pitted nails

Clinical features from OMIM:

129900

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


photophobia

MGI Mouse Phenotypes related to Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/palate Syndrome 1:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.62 ARID1A GNAS NSD2 TP63
2 craniofacial MP:0005382 9.56 ARID1A GNAS NSD2 TP63
3 neoplasm MP:0002006 9.33 ARID1A GNAS TP63
4 skeleton MP:0005390 9.26 ARID1A GNAS NSD2 TP63
5 taste/olfaction MP:0005394 8.62 GNAS 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 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 30

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:

42
Skin, Kidney, Eye, Thymus, B Cells

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 94)
# Title Authors Year
1
Infrared meibography and molecular assessment of p63 gene mutations in a Mexican patient with EEC syndrome. ( 30025988 )
2018
2
Induced pluripotent stem cells line (UNIPDi003-A) from a patient affected by EEC syndrome carrying the R279H mutation in TP63 gene. ( 29477592 )
2018
3
Evolution of Acquired Middle Ear Cholesteatoma in Patients With Ectrodactyly, Ectodermal Dysplasia, Cleft Lip/Palate (EEC) Syndrome. ( 30113563 )
2018
4
Prenatal diagnosis of Ectrodactyly-Ectodermal dysplasia-Cleft (EEC) syndrome in a Chinese woman with a TP63 mutation. ( 28420484 )
2017
5
SIBLINGS AFFECTED BY ECTRODACTYLY-ECTODERMAL DYSPLASIA AND CLEFT LIP/PALATE (EEC) SYNDROME PRESENTING NORMAL PARENTS: GERMLINE MOSAICISM? ( 28977327 )
2017
6
Correction of Mutant p63 in EEC Syndrome Using siRNA Mediated Allele-Specific Silencing Restores Defective Stem Cell Function. ( 26891374 )
2016
7
Intermediate Phenotype between ADULT Syndrome and EEC Syndrome Caused by R243Q Mutation in TP63. ( 28293528 )
2016
8
Two case reports with literature review of the EEC syndrome: Clinical presentation and management. ( 27252974 )
2015
9
Ectrodactyly, Ectodermal Dysplasia, Cleft Lip, and Palate (EEC Syndrome) with Tetralogy of Fallot: A Very Rare Combination. ( 26137453 )
2015
10
A novel c.1037C > G (p.Ala346Gly) mutation in TP63 as cause of the ectrodactyly-ectodermal dysplasia and cleft lip/palate (EEC) syndrome. ( 25983622 )
2015
11
Ectrodactyly ectodermal dysplasia clefting (EEC) syndrome: a rare cause of congenital lacrimal anomalies. ( 24801258 )
2015
12
Ectrodactyly-ectodermal dysplasia clefting syndrome (EEC syndrome). ( 25737931 )
2014
13
Two interesting cases of EEC syndrome. ( 25737881 )
2013
14
An allelic series of Trp63 mutations defines TAp63 as a modifier of EEC syndrome. ( 23775923 )
2013
15
APR-246/PRIMA-1(MET) rescues epidermal differentiation in skin keratinocytes derived from EEC syndrome patients with p63 mutations. ( 23355676 )
2013
16
Ectrodactyly-ectodermal dysplasia-cleft syndrome (EEC syndrome) with a developmental delay caused by R304W mutation in the tp63 gene. ( 24734328 )
2013
17
EEC syndrome with a de novo mutation (c.953g > a) on exon 7 of P63 gene: a case report. ( 23431748 )
2012
18
Prenatal Diagnosis of EEC Syndrome with "Lobster Claw" Anomaly by 3D Ultrasound. ( 22919554 )
2012
19
EEC syndrome-like phenotype in a patient with an IRF6 mutation. ( 22488974 )
2012
20
Development of an allele-specific real-time PCR assay for discrimination and quantification of p63 R279H mutation in EEC syndrome. ( 22056627 )
2012
21
Ectrodactyly, ectodermal dysplasia, cleft lip, and palate (EEC syndrome). ( 22919225 )
2012
22
Ectrodactyly, ectodermal dysplasia, and cleft lip-palate (EEC) syndrome without clefting: a rare case report. ( 22398226 )
2012
23
Phenotypic analysis of Arg227 mutations of TP63 with emphasis on dental phenotype and micturition difficulties in EEC syndrome. ( 21204238 )
2011
24
White sponge nevus in a patient with EEC syndrome. ( 20492824 )
2010
25
The EEC syndrome and SHFM: report of two cases and mutation analysis of p63 gene. ( 21434540 )
2010
26
Adipsic hypernatremia and bilateral renal stones in a child with ectrodactyly-ectodermal dysplasia-cleft lip-palate (EEC) syndrome. ( 20681222 )
2010
27
Do you know this syndrome? Ectrodactyly - ectodermal dysplasia - cleft lip/palate(EEC) syndrome. ( 20944926 )
2010
28
ADULT syndrome caused by a mutation previously associated with EEC syndrome. ( 21078104 )
2010
29
EEC syndrome sans clefting: variable clinical presentations in a family. ( 17314449 )
2007
30
EEC syndrome. ( 17322619 )
2007
31
EEC syndrome, Arg227Gln TP63 mutation and micturition difficulties: Is there a genotype-phenotype correlation? ( 17431922 )
2007
32
Lobster-claw hand: a manifestation of EEC syndrome. ( 16481713 )
2006
33
A case of EEC syndrome with peri/intraoral papillomatosis and widespread freckling. ( 16620233 )
2006
34
Breast reconstruction using deep inferior epigastric perforator flaps in EEC syndrome. ( 16817257 )
2006
35
An unusual combination of EEC syndrome and hypomelanosis Ito due to a p63 mutation. ( 15889277 )
2005
36
Ectrodactyly-ectodermal dysplasia-clefting (EEC) syndrome presenting with a large nephrogenic cyst, severe oligohydramnios and hydrops fetalis: a case report and review of the literature. ( 15791665 )
2005
37
TP63 mutation and clefting modifier genes in an EEC syndrome family. ( 15324320 )
2004
38
EEC syndrome--a case report. ( 14700339 )
2003
39
EEC syndrome type 3 with a heterozygous germline mutation in the P63 gene and B cell lymphoma. ( 12838557 )
2003
40
Ectrodactyly, ectodermal dysplasia and clefting (EEC) syndrome. ( 12702090 )
2003
41
A critical analysis of the Roelfsema and Cobben severity score in EEC syndrome. ( 12198452 )
2002
42
Analysis of the p63 gene in classical EEC syndrome, related syndromes, and non-syndromic orofacial clefts. ( 12161593 )
2002
43
A de novo mutation (R279C) in the P63 gene in a patient with EEC syndrome. ( 11683779 )
2001
44
p63 Gene mutations in eec syndrome, limb-mammary syndrome, and isolated split hand-split foot malformation suggest a genotype-phenotype correlation. ( 11462173 )
2001
45
EEC syndrome (ectrodactyly-ectodermal dysplasia-clefting): a clinical case report. ( 11985198 )
2001
46
Counseling dilemmas in EEC syndrome. ( 10756423 )
2000
47
Heterozygous germline missense mutation in the p63 gene underlying EEC syndrome. ( 11012604 )
2000
48
Heterozygous germline mutations in the p53 homolog p63 are the cause of EEC syndrome. ( 10535733 )
1999
49
Ocular manifestations in a father and son with EEC syndrome. ( 9285221 )
1997
50
What syndrome is this? Ectrodactyly, ectodermal dysplasia, and cleft palate (EEC) syndrome. ( 9192423 )
1997

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

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
10.86 ARID1A GNAS

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 negative regulation of transcription by RNA polymerase II GO:0000122 9.5 ARID1A NSD2 TP63
2 skeletal system development GO:0001501 9.37 GNAS TP63
3 chromatin remodeling GO:0006338 9.26 ARID1A TP63
4 positive regulation of osteoblast differentiation GO:0045669 9.16 GNAS TP63
5 bone development GO:0060348 8.96 GNAS NSD2
6 embryonic hindlimb morphogenesis GO:0035116 8.62 GNAS TP63

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

3 CDC
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10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
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33 HPO
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35 ICD10 via Orphanet
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45 MeSH
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75 UMLS via Orphanet
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