EEC
MCID: ECT100
MIFTS: 50

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

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 57 29 73
Eec Syndrome 12 76 53 15
Rudiger Syndrome 1 12 53 73
Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip-Palate Syndrome 1 12 15
Walker-Clodius Syndrome 12 53
Eec Syndrome 1 57 12
Eec Syndrome-1 57 13
Eec1 57 12
Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip-Palate Syndrome 12
Ectrodactyly-Ectodermal Dysplasia-Cleft Lip/palate Syndrome 53
Ectrodactyly-Ectodermal Dysplasia-Cleft Lip/cleft Palate 53
Ectrodactyly-Ectodermal Dysplasia-Clefting Syndrome 53
Ectrodactyly-Ectodermal Dysplasia-Clefting Syndrome 12
Ectrodactyly-Cleft Lip/palate Syndrome 53
Ectrodactyly-Cleft Lip-Palate Syndrome 44
Eec 57

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

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


HPO:

32
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 : 53 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 adult syndrome, 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). Affiliated tissues include skin, kidney and eye, and related phenotypes are malar flattening and hypertelorism

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

Wikipedia : 76 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 68)
# Related Disease Score Top Affiliating Genes
1 cleft lip/palate 31.8 TP63 EEC1
2 adult syndrome 31.7 TP63 SATB2
3 ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 31.2 TP63 SATB2 ARID1A
4 cleft palate, isolated 29.7 TP63 SATB2
5 lacrimoauriculodentodigital syndrome 29.4 TP63 SATB2
6 ectrodactyly and ectodermal dysplasia without cleft lip/palate 11.9
7 bladder exstrophy-epispadias-cloacal exstrophy complex 11.9
8 limb-mammary syndrome 11.3
9 exstrophy of bladder 11.2
10 rudiger syndrome 11.2
11 perrault syndrome 1 11.1
12 hartsfield syndrome 11.0
13 ectodermal dysplasia 10.7
14 dermatitis 10.5
15 hypopituitarism 10.5
16 cleft lip 10.4
17 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.4
18 lymphoma, hodgkin, classic 10.3
19 pierre robin syndrome 10.3
20 lymphoma, non-hodgkin, familial 10.3
21 holoprosencephaly 10.3
22 keratopathy 10.3
23 limbal stem cell deficiency 10.3
24 aggressive periodontitis 10.3
25 folliculitis 10.3
26 periodontitis 10.3
27 absence of septum pellucidum 10.3
28 growth hormone deficiency 10.3
29 isolated pierre robin sequence 10.3
30 isolated split hand-split foot malformation 10.3
31 split-hand/foot malformation 1 10.2
32 choanal atresia, posterior 10.0
33 juxtacortical osteosarcoma 9.9 SATB2 GNAS
34 peripheral osteosarcoma 9.9 SATB2 GNAS
35 ankyloblepharon-ectodermal defects-cleft lip/palate 9.8 TP63 SATB2
36 ankyloglossia 9.8
37 esterase c 9.8
38 ulnar-mammary syndrome 9.8
39 tetralogy of fallot 9.8
40 trigeminal neuralgia 9.8
41 white sponge nevus 1 9.8
42 polycythemia vera 9.8
43 tetramelic deficiencies, ectodermal dysplasia, deformed ears, and other abnormalities 9.8
44 focal dermal hypoplasia 9.8
45 hydrops fetalis, nonimmune, and/or atrial septal defect 9.8
46 b-cell lymphomas 9.8
47 breast reconstruction 9.8
48 lymphoma 9.8
49 microphthalmia 9.8
50 cholesteatoma of middle ear 9.8

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...

Symptoms via clinical synopsis from OMIM:

57
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

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

32 (show top 50) (show all 90)
# Description HPO Frequency HPO Source Accession
1 malar flattening 32 HP:0000272
2 hypertelorism 32 HP:0000316
3 finger syndactyly 32 occasional (7.5%) HP:0006101
4 intellectual disability 32 occasional (7.5%) HP:0001249
5 inguinal hernia 32 HP:0000023
6 recurrent respiratory infections 32 HP:0002205
7 carious teeth 32 hallmark (90%) HP:0000670
8 microtia 32 HP:0008551
9 microcephaly 32 HP:0000252
10 sensorineural hearing impairment 32 occasional (7.5%) HP:0000407
11 thick eyebrow 32 hallmark (90%) HP:0000574
12 coarse hair 32 hallmark (90%) HP:0002208
13 short stature 32 occasional (7.5%) HP:0004322
14 photophobia 32 frequent (33%) HP:0000613
15 cleft palate 32 occasional (7.5%) HP:0000175
16 hyperkeratosis 32 hallmark (90%) HP:0000962
17 nail dystrophy 32 hallmark (90%) HP:0008404
18 thin skin 32 HP:0000963
19 corneal erosion 32 frequent (33%) HP:0200020
20 microdontia 32 hallmark (90%) HP:0000691
21 cryptorchidism 32 HP:0000028
22 dry skin 32 hallmark (90%) HP:0000958
23 hypohidrosis 32 occasional (7.5%) HP:0000966
24 aplasia/hypoplasia of the nipples 32 occasional (7.5%) HP:0006709
25 nevus 32 occasional (7.5%) HP:0003764
26 external ear malformation 32 occasional (7.5%) HP:0008572
27 renal hypoplasia/aplasia 32 frequent (33%) HP:0008678
28 hypogonadotrophic hypogonadism 32 HP:0000044
29 telecanthus 32 HP:0000506
30 keratitis 32 frequent (33%) HP:0000491
31 blepharitis 32 frequent (33%) HP:0000498
32 hypospadias 32 occasional (7.5%) HP:0000047
33 hypoplasia of the maxilla 32 HP:0000327
34 blue irides 32 HP:0000635
35 xerostomia 32 occasional (7.5%) HP:0000217
36 aplasia/hypoplasia of the skin 32 frequent (33%) HP:0008065
37 conductive hearing impairment 32 HP:0000405
38 anal atresia 32 HP:0002023
39 broad nasal tip 32 HP:0000455
40 vesicoureteral reflux 32 occasional (7.5%) HP:0000076
41 abnormality of dental enamel 32 hallmark (90%) HP:0000682
42 hypoplasia of the thymus 32 occasional (7.5%) HP:0000778
43 choanal atresia 32 occasional (7.5%) HP:0000453
44 hand polydactyly 32 HP:0001161
45 lacrimation abnormality 32 hallmark (90%) HP:0000632
46 taurodontia 32 hallmark (90%) HP:0000679
47 sparse scalp hair 32 HP:0002209
48 fine hair 32 occasional (7.5%) HP:0002213
49 generalized hypopigmentation 32 frequent (33%) HP:0007513
50 reduced number of teeth 32 hallmark (90%) HP:0009804

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:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.65 ARID1A GNAS NSD2 SATB2 TP63
2 craniofacial MP:0005382 9.55 ARID1A GNAS NSD2 SATB2 TP63
3 growth/size/body region MP:0005378 9.35 ARID1A GNAS NSD2 SATB2 TP63
4 skeleton MP:0005390 9.02 ARID1A GNAS NSD2 SATB2 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 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:

41
Skin, Kidney, Eye, Breast, Thymus, B Cells, Lung

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
Evolution of Acquired Middle Ear Cholesteatoma in Patients With Ectrodactyly, Ectodermal Dysplasia, Cleft Lip/Palate (EEC) Syndrome. ( 30113563 )
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
Infrared meibography and molecular assessment of p63 gene mutations in a Mexican patient with EEC syndrome. ( 30025988 )
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
Intermediate Phenotype between ADULT Syndrome and EEC Syndrome Caused by R243Q Mutation in TP63. ( 28293528 )
2016
7
Correction of mutant p63 in EEC syndrome using siRNA mediated allele specific silencing restores defective stem cell function. ( 26891374 )
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 syndrome (EEC syndrome). ( 25737931 )
2014
12
Ectrodactyly Ectodermal Dysplasia Clefting (EEC) Syndrome: A Rare Cause of Congenital Lacrimal Anomalies. ( 24801258 )
2014
13
APR-246/PRIMA-1(MET) rescues epidermal differentiation in skin keratinocytes derived from EEC syndrome patients with p63 mutations. ( 23355676 )
2013
14
An allelic series of Trp63 mutations defines TAp63 as a modifier of EEC syndrome. ( 23775923 )
2013
15
Ectrodactyly-ectodermal dysplasia-cleft syndrome (EEC syndrome) with a developmental delay caused by R304W mutation in the tp63 gene. ( 24734328 )
2013
16
Two interesting cases of EEC syndrome. ( 25737881 )
2013
17
EEC syndrome with a de novo mutation (c.953g > a) on exon 7 of P63 gene: a case report. ( 23431748 )
2012
18
EEC syndrome-like phenotype in a patient with an IRF6 mutation. ( 22488974 )
2012
19
Ectrodactyly, ectodermal dysplasia, cleft lip, and palate (EEC syndrome). ( 22919225 )
2012
20
Ectrodactyly, ectodermal dysplasia, and cleft lip-palate (EEC) syndrome without clefting: a rare case report. ( 22398226 )
2012
21
Development of an allele-specific real-time PCR assay for discrimination and quantification of p63 R279H mutation in EEC syndrome. ( 22056627 )
2012
22
Prenatal Diagnosis of EEC Syndrome with "Lobster Claw" Anomaly by 3D Ultrasound. ( 22919554 )
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
ADULT syndrome caused by a mutation previously associated with EEC syndrome. ( 21078104 )
2010
26
Adipsic hypernatremia and bilateral renal stones in a child with ectrodactyly-ectodermal dysplasia-cleft lip-palate (EEC) syndrome. ( 20681222 )
2010
27
The EEC syndrome and SHFM: report of two cases and mutation analysis of p63 gene. ( 21434540 )
2010
28
Do you know this syndrome? Ectrodactyly - ectodermal dysplasia - cleft lip/palate(EEC) syndrome. ( 20944926 )
2010
29
EEC syndrome, Arg227Gln TP63 mutation and micturition difficulties: Is there a genotype-phenotype correlation? ( 17431922 )
2007
30
EEC syndrome sans clefting: variable clinical presentations in a family. ( 17314449 )
2007
31
EEC syndrome. ( 17322619 )
2007
32
Lobster-claw hand: a manifestation of EEC syndrome. ( 16481713 )
2006
33
Breast reconstruction using deep inferior epigastric perforator flaps in EEC syndrome. ( 16817257 )
2006
34
A case of EEC syndrome with peri/intraoral papillomatosis and widespread freckling. ( 16620233 )
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 type 3 with a heterozygous germline mutation in the P63 gene and B cell lymphoma. ( 12838557 )
2003
39
Ectrodactyly, ectodermal dysplasia and clefting (EEC) syndrome. ( 12702090 )
2003
40
EEC syndrome--a case report. ( 14700339 )
2003
41
Analysis of the p63 gene in classical EEC syndrome, related syndromes, and non-syndromic orofacial clefts. ( 12161593 )
2002
42
A critical analysis of the Roelfsema and Cobben severity score in EEC syndrome. ( 12198452 )
2002
43
A de novo mutation (R279C) in the P63 gene in a patient with EEC syndrome. ( 11683779 )
2001
44
EEC syndrome (ectrodactyly-ectodermal dysplasia-clefting): a clinical case report. ( 11985198 )
2001
45
p63 Gene mutations in eec syndrome, limb-mammary syndrome, and isolated split hand-split foot malformation suggest a genotype-phenotype correlation. ( 11462173 )
2001
46
Heterozygous germline missense mutation in the p63 gene underlying EEC syndrome. ( 11012604 )
2000
47
Counseling dilemmas in EEC syndrome. ( 10756423 )
2000
48
Heterozygous germline mutations in the p53 homolog p63 are the cause of EEC syndrome. ( 10535733 )
1999
49
What syndrome is this? Ectrodactyly, ectodermal dysplasia, and cleft palate (EEC) syndrome. ( 9192423 )
1997
50
Ocular manifestations in a father and son with EEC syndrome. ( 9285221 )
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...

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 skeletal system development GO:0001501 9.43 GNAS TP63
2 chromatin organization GO:0006325 9.43 ARID1A NSD2 SATB2
3 cartilage development GO:0051216 9.4 GNAS SATB2
4 positive regulation of osteoblast differentiation GO:0045669 9.37 GNAS TP63
5 bone development GO:0060348 9.32 GNAS NSD2
6 negative regulation of transcription by RNA polymerase II GO:0000122 9.26 ARID1A NSD2 SATB2 TP63
7 embryonic hindlimb morphogenesis GO:0035116 9.16 GNAS TP63
8 chromatin remodeling GO:0006338 8.8 ARID1A SATB2 TP63

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 sequence-specific DNA binding GO:0043565 9.33 NSD2 SATB2 TP63
2 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 9.26 ARID1A NSD2 SATB2 TP63
3 chromatin binding GO:0003682 8.8 NSD2 SATB2 TP63

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
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49 NCI
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57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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