EEC
MCID: ECT100
MIFTS: 43

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

Categories: Rare diseases, Genetic 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
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 adult syndrome and cleft lip/palate, 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...

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

Skeletal Hands:
ectrodactyly
syndactyly

Genitourinary External Genitalia Male:
micropenis

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

GenitourinaryInternal GenitaliaMale:
cryptorchidism

Respiratory Nasopharynx:
choanal atresia

Chest Breasts:
hypoplastic nipples

Skeletal Feet:
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

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

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

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 89)
# Title Authors Year
1
Prenatal diagnosis of Ectrodactyly-Ectodermal dysplasia-Cleft (EEC) syndrome in a Chinese woman with a TP63 mutation. ( 28420484 )
2017
2
SIBLINGS AFFECTED BY ECTRODACTYLY-ECTODERMAL DYSPLASIA AND CLEFT LIP/PALATE (EEC) SYNDROME PRESENTING NORMAL PARENTS: GERMLINE MOSAICISM? ( 28977327 )
2017
3
Intermediate Phenotype between ADULT Syndrome and EEC Syndrome Caused by R243Q Mutation in TP63. ( 28293528 )
2016
4
Correction of mutant p63 in EEC syndrome using siRNA mediated allele specific silencing restores defective stem cell function. ( 26891374 )
2016
5
Two case reports with literature review of the EEC syndrome: Clinical presentation and management. ( 27252974 )
2015
6
Ectrodactyly, Ectodermal Dysplasia, Cleft Lip, and Palate (EEC Syndrome) with Tetralogy of Fallot: A Very Rare Combination. ( 26137453 )
2015
7
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
8
Ectrodactyly-ectodermal dysplasia clefting syndrome (EEC syndrome). ( 25737931 )
2014
9
Ectrodactyly Ectodermal Dysplasia Clefting (EEC) Syndrome: A Rare Cause of Congenital Lacrimal Anomalies. ( 24801258 )
2014
10
APR-246/PRIMA-1(MET) rescues epidermal differentiation in skin keratinocytes derived from EEC syndrome patients with p63 mutations. ( 23355676 )
2013
11
An allelic series of Trp63 mutations defines TAp63 as a modifier of EEC syndrome. ( 23775923 )
2013
12
Ectrodactyly-ectodermal dysplasia-cleft syndrome (EEC syndrome) with a developmental delay caused by R304W mutation in the tp63 gene. ( 24734328 )
2013
13
Two interesting cases of EEC syndrome. ( 25737881 )
2013
14
EEC syndrome with a de novo mutation (c.953g > a) on exon 7 of P63 gene: a case report. ( 23431748 )
2012
15
EEC syndrome-like phenotype in a patient with an IRF6 mutation. ( 22488974 )
2012
16
Ectrodactyly, ectodermal dysplasia, cleft lip, and palate (EEC syndrome). ( 22919225 )
2012
17
Ectrodactyly, ectodermal dysplasia, and cleft lip-palate (EEC) syndrome without clefting: a rare case report. ( 22398226 )
2012
18
Development of an allele-specific real-time PCR assay for discrimination and quantification of p63 R279H mutation in EEC syndrome. ( 22056627 )
2012
19
Prenatal Diagnosis of EEC Syndrome with "Lobster Claw" Anomaly by 3D Ultrasound. ( 22919554 )
2012
20
Phenotypic analysis of Arg227 mutations of TP63 with emphasis on dental phenotype and micturition difficulties in EEC syndrome. ( 21204238 )
2011
21
White sponge nevus in a patient with EEC syndrome. ( 20492824 )
2010
22
ADULT syndrome caused by a mutation previously associated with EEC syndrome. ( 21078104 )
2010
23
Adipsic hypernatremia and bilateral renal stones in a child with ectrodactyly-ectodermal dysplasia-cleft lip-palate (EEC) syndrome. ( 20681222 )
2010
24
The EEC syndrome and SHFM: report of two cases and mutation analysis of p63 gene. ( 21434540 )
2010
25
Do you know this syndrome? Ectrodactyly - ectodermal dysplasia - cleft lip/palate(EEC) syndrome. ( 20944926 )
2010
26
EEC syndrome, Arg227Gln TP63 mutation and micturition difficulties: Is there a genotype-phenotype correlation? ( 17431922 )
2007
27
EEC syndrome sans clefting: variable clinical presentations in a family. ( 17314449 )
2007
28
EEC syndrome. ( 17322619 )
2007
29
Lobster-claw hand: a manifestation of EEC syndrome. ( 16481713 )
2006
30
Breast reconstruction using deep inferior epigastric perforator flaps in EEC syndrome. ( 16817257 )
2006
31
A case of EEC syndrome with peri/intraoral papillomatosis and widespread freckling. ( 16620233 )
2006
32
An unusual combination of EEC syndrome and hypomelanosis Ito due to a p63 mutation. ( 15889277 )
2005
33
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
34
TP63 mutation and clefting modifier genes in an EEC syndrome family. ( 15324320 )
2004
35
EEC syndrome type 3 with a heterozygous germline mutation in the P63 gene and B cell lymphoma. ( 12838557 )
2003
36
Ectrodactyly, ectodermal dysplasia and clefting (EEC) syndrome. ( 12702090 )
2003
37
EEC syndrome--a case report. ( 14700339 )
2003
38
Analysis of the p63 gene in classical EEC syndrome, related syndromes, and non-syndromic orofacial clefts. ( 12161593 )
2002
39
A de novo mutation (R279C) in the P63 gene in a patient with EEC syndrome. ( 11683779 )
2001
40
EEC syndrome (ectrodactyly-ectodermal dysplasia-clefting): a clinical case report. ( 11985198 )
2001
41
p63 gene mutations in EEC syndrome, limb-mammary syndrome, and isolated split hand-split foot malformation suggest a genotype- phenotype correlation. ( 11462173 )
2001
42
Heterozygous germline missense mutation in the p63 gene underlying EEC syndrome. ( 11012604 )
2000
43
Counseling dilemmas in EEC syndrome. ( 10756423 )
2000
44
Heterozygous germline mutations in the p53 homolog p63 are the cause of EEC syndrome. ( 10535733 )
1999
45
What syndrome is this? Ectrodactyly, ectodermal dysplasia, and cleft palate (EEC) syndrome. ( 9192423 )
1997
46
Ocular manifestations in a father and son with EEC syndrome. ( 9285221 )
1997
47
EEC syndrome and genitourinary anomalies: an update. ( 8737655 )
1996
48
The EEC syndrome: a literature study. ( 8723561 )
1996
49
Ectrodactyly-ectodermal dysplasia--clefting (EEC) syndrome. ( 8859102 )
1996
50
Absent meibomian glands: a marker for EEC syndrome. ( 8796162 )
1996

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...

Cellular components 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 transcription factor complex GO:0005667 8.96 SATB2 TP63
2 nuclear matrix GO:0016363 8.62 PSPC1 SATB2

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 positive regulation of transcription by RNA polymerase II GO:0045944 9.5 SATB2 TP63 WNT10B
2 negative regulation of transcription by RNA polymerase II GO:0000122 9.43 SATB2 TP63 WNT10B
3 chromatin remodeling GO:0006338 9.16 SATB2 TP63
4 positive regulation of osteoblast differentiation GO:0045669 8.96 TP63 WNT10B
5 cellular response to organic substance GO:0071310 8.62 SATB2 WNT10B

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

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