MCID: ECS001
MIFTS: 39

Eec Syndrome malady

Categories: Genetic diseases, Rare diseases

Aliases & Classifications for Eec Syndrome

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Aliases & Descriptions for Eec Syndrome:

Name: Eec Syndrome 11 48 24 13
Rudiger Syndrome 1 11 48 68
Walker-Clodius Syndrome 11 48
Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/palate Syndrome 24
Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip-Palate Syndrome 11
Ectrodactyly-Ectodermal Dysplasia-Cleft Lip/palate Syndrome 48
 
Ectrodactyly-Ectodermal Dysplasia-Cleft Lip/cleft Palate 48
Ectrodactyly-Ectodermal Dysplasia-Clefting Syndrome 48
Ectrodactyly, Ectodermal Dysplasia, Clefting Syndrome 24
Ectrodactyly-Ectodermal Dysplasia-Clefting Syndrome 11
Ectrodactyly-Cleft Lip/palate Syndrome 48

Classifications:



External Ids:

Disease Ontology11 DOID:0060782
ICD1030 Q82.4

Summaries for Eec Syndrome

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NIH Rare Diseases:48 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. last updated: 4/11/2016

MalaCards based summary: Eec Syndrome, also known as rudiger syndrome 1, is related to adult syndrome and ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3, and has symptoms including hypospadias, urethral atresia and vesicoureteral reflux. An important gene associated with Eec Syndrome is TP63 (Tumor Protein P63). Affiliated tissues include eye, skin and breast.

Disease Ontology:11 An autosomal dominant disease characterized by ectrodactyly, ectodermal dysplasia, and orofacial clefts (cleft lip-palate).

Related Diseases for Eec Syndrome

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Diseases related to Eec Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 46)
idRelated DiseaseScoreTop Affiliating Genes
1adult syndrome29.8SATB2, TP63
2ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 311.4
3ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 111.4
4hartsfield syndrome11.3
5ectodermal dysplasia10.4
6cleft lip10.2
7cleft lip/palate10.1
8gaze palsy, horizontal, with progressive scoliosis10.1SATB2, TP63
9differentiated thyroid carcinoma10.0SATB2, TP63
10amenorrhea10.0SATB2, TP63
11rapp-hodgkin syndrome10.0SATB2, TP63
12orofacial cleft 610.0SATB2, TP63
13congenital absence of both lower leg and foot10.0TP63, WNT10B
14saddan10.0SATB2, TP63
15hereditary lymphedema9.9SATB2, TP63
16familial abdominal aortic aneurysm9.9EEC1, TP63
17myasthenic syndrome, congenital, 2c, associated with acetylcholine receptor deficiency9.9SATB2, TP63
18angiocentric glioma9.9TP63, WNT10B
19congenital absence/hypoplasia of thumb9.9TP63, WNT10B
20spondylocostal dysostosis 39.9TP63, WNT10B
213mc syndrome 19.9PSPC1, SATB2, TP63
22chronic ethmoiditis9.9EEC1, SATB2, TP63
23fibrous dysplasia9.8SATB2, TP63
24taeniasis9.7SATB2, TP63, WNT10B
25alpha thalassemia-x-linked intellectual disability syndrome9.7SATB2, TP63, WNT10B
26limb-mammary syndrome9.6
27tetralogy of fallot9.6
28trigeminal neuralgia9.6
29b-cell lymphomas9.6
30breast reconstruction9.6
31orofacial cleft9.6
32lymphoma9.6
33microphthalmia9.6
34oligohydramnios9.6
35anodontia9.6
36hypogonadism9.6
37diabetes insipidus9.6
38freire-maia odontotrichomelic syndrome9.6
39hydrops fetalis9.6
40anophthalmia/microphthalmia9.6
41abdominal wall defect9.6
42monosomy 219.6
43split hand-split foot malformation9.6
44split foot9.6
45split hand9.6
46hypomyelinating leukodystrophy 139.3EEC1, PSPC1, SATB2, TP63, WNT10B

Graphical network of the top 20 diseases related to Eec Syndrome:



Diseases related to eec syndrome

Symptoms & Phenotypes for Eec Syndrome

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Human phenotypes related to Eec Syndrome:

 64 (show all 48)
id Description HPO Frequency HPO Source Accession
1 hypospadias64 HP:0000047
2 urethral atresia64 HP:0000068
3 vesicoureteral reflux64 HP:0000076
4 hydronephrosis64 HP:0000126
5 cleft palate64 HP:0000175
6 xerostomia64 HP:0000217
7 abnormality of the middle ear64 HP:0000370
8 sensorineural hearing impairment64 HP:0000407
9 choanal atresia64 HP:0000453
10 keratitis64 HP:0000491
11 blepharitis64 HP:0000498
12 sparse and thin eyebrow64 HP:0000535
13 thick eyebrow64 HP:0000574
14 photophobia64 HP:0000613
15 entropion64 HP:0000621
16 lacrimation abnormality64 HP:0000632
17 carious teeth64 HP:0000670
18 taurodontia64 HP:0000679
19 abnormality of dental enamel64 HP:0000682
20 microdontia64 HP:0000691
21 hypoplasia of the thymus64 HP:0000778
22 growth hormone deficiency64 HP:0000824
23 dry skin64 HP:0000958
24 hyperkeratosis64 HP:0000962
25 hypohidrosis64 HP:0000966
26 split hand64 HP:0001171
27 intellectual disability64 HP:0001249
28 toe syndactyly64 HP:0001770
29 nail pits64 HP:0001803
30 split foot64 HP:0001839
31 coarse hair64 HP:0002208
32 fine hair64 HP:0002213
33 slow-growing hair64 HP:0002217
34 lymphoma64 HP:0002665
35 nevus64 HP:0003764
36 short stature64 HP:0004322
37 finger syndactyly64 HP:0006101
38 aplasia/hypoplasia of the nipples64 HP:0006709
39 generalized hypopigmentation64 HP:0007513
40 aplasia/hypoplasia of the skin64 HP:0008065
41 nail dystrophy64 HP:0008404
42 external ear malformation64 HP:0008572
43 renal hypoplasia/aplasia64 HP:0008678
44 aplasia/hypoplasia of the thumb64 HP:0009601
45 proximal placement of thumb64 HP:0009623
46 reduced number of teeth64 HP:0009804
47 aplasia/hypoplasia of the breasts64 HP:0010311
48 corneal erosion64 HP:0200020

Drugs & Therapeutics for Eec Syndrome

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Drugs for Eec Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1Anesthetics9596

Interventional clinical trials:

idNameStatusNCT IDPhase
1Evaluation of Dry Eye by Tear Film Imager in a Low Humidity Environmental Exposure Chamber (TFI-LH16)RecruitingNCT03061578
2The Trial of Pessary After Laser for TTTSRecruitingNCT01334489
3Biomarkers in Samples From Patients With Endometrial CancerNot yet recruitingNCT01199250

Search NIH Clinical Center for Eec Syndrome

Genetic Tests for Eec Syndrome

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Genetic tests related to Eec Syndrome:

id Genetic test Affiliating Genes
1 Ectrodactyly, Ectodermal Dysplasia, Clefting Syndrome (non-Tp63-Related)24
2 Ectrodactyly, Ectodermal Dysplasia, Clefting Syndrome24 TP63

Anatomical Context for Eec Syndrome

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MalaCards organs/tissues related to Eec Syndrome:

36
Eye, Skin, Breast, Thymus, B cells

Publications for Eec Syndrome

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Articles related to Eec Syndrome:

(show top 50)    (show all 87)
idTitleAuthorsYear
1
Correction of mutant p63 in EEC syndrome using siRNA mediated allele specific silencing restores defective stem cell function. (26891374)
2016
2
Intermediate Phenotype between ADULT Syndrome and EEC Syndrome Caused by R243Q Mutation in TP63. (28293528)
2016
3
Ectrodactyly, Ectodermal Dysplasia, Cleft Lip, and Palate (EEC Syndrome) with Tetralogy of Fallot: A Very Rare Combination. (26137453)
2015
4
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
5
Two case reports with literature review of the EEC syndrome: Clinical presentation and management. (27252974)
2015
6
Ectrodactyly Ectodermal Dysplasia Clefting (EEC) Syndrome: A Rare Cause of Congenital Lacrimal Anomalies. (24801258)
2014
7
Ectrodactyly-ectodermal dysplasia clefting syndrome (EEC syndrome). (25737931)
2014
8
Ectrodactyly-ectodermal dysplasia-cleft syndrome (EEC syndrome) with a developmental delay caused by R304W mutation in the tp63 gene. (24734328)
2013
9
Two interesting cases of EEC syndrome. (25737881)
2013
10
An allelic series of Trp63 mutations defines TAp63 as a modifier of EEC syndrome. (23775923)
2013
11
APR-246/PRIMA-1(MET) rescues epidermal differentiation in skin keratinocytes derived from EEC syndrome patients with p63 mutations. (23355676)
2013
12
EEC syndrome with a de novo mutation (c.953g > a) on exon 7 of P63 gene: a case report. (23431748)
2012
13
Prenatal Diagnosis of EEC Syndrome with "Lobster Claw" Anomaly by 3D Ultrasound. (22919554)
2012
14
Ectrodactyly, ectodermal dysplasia, cleft lip, and palate (EEC syndrome). (22919225)
2012
15
EEC syndrome-like phenotype in a patient with an IRF6 mutation. (22488974)
2012
16
Development of an allele-specific real-time PCR assay for discrimination and quantification of p63 R279H mutation in EEC syndrome. (22056627)
2012
17
Ectrodactyly, ectodermal dysplasia, and cleft lip-palate (EEC) syndrome without clefting: a rare case report. (22398226)
2012
18
Phenotypic analysis of Arg227 mutations of TP63 with emphasis on dental phenotype and micturition difficulties in EEC syndrome. (21204238)
2011
19
The EEC syndrome and SHFM: report of two cases and mutation analysis of p63 gene. (21434540)
2010
20
ADULT syndrome caused by a mutation previously associated with EEC syndrome. (21078104)
2010
21
Adipsic hypernatremia and bilateral renal stones in a child with ectrodactyly-ectodermal dysplasia-cleft lip-palate (EEC) syndrome. (20681222)
2010
22
Do you know this syndrome? Ectrodactyly - ectodermal dysplasia - cleft lip/palate(EEC) syndrome. (20944926)
2010
23
White sponge nevus in a patient with EEC syndrome. (20492824)
2010
24
EEC syndrome. (17322619)
2007
25
EEC syndrome sans clefting: variable clinical presentations in a family. (17314449)
2007
26
EEC syndrome, Arg227Gln TP63 mutation and micturition difficulties: Is there a genotype-phenotype correlation? (17431922)
2007
27
Breast reconstruction using deep inferior epigastric perforator flaps in EEC syndrome. (16817257)
2006
28
A case of EEC syndrome with peri/intraoral papillomatosis and widespread freckling. (16620233)
2006
29
Lobster-claw hand: a manifestation of EEC syndrome. (16481713)
2006
30
An unusual combination of EEC syndrome and hypomelanosis Ito due to a p63 mutation. (15889277)
2005
31
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
32
TP63 mutation and clefting modifier genes in an EEC syndrome family. (15324320)
2004
33
Ectrodactyly, ectodermal dysplasia and clefting (EEC) syndrome. (12702090)
2003
34
EEC syndrome--a case report. (14700339)
2003
35
EEC syndrome type 3 with a heterozygous germline mutation in the P63 gene and B cell lymphoma. (12838557)
2003
36
Analysis of the p63 gene in classical EEC syndrome, related syndromes, and non-syndromic orofacial clefts. (12161593)
2002
37
p63 gene mutations in EEC syndrome, limb-mammary syndrome, and isolated split hand-split foot malformation suggest a genotype- phenotype correlation. (11462173)
2001
38
EEC syndrome (ectrodactyly-ectodermal dysplasia-clefting): a clinical case report. (11985198)
2001
39
A de novo mutation (R279C) in the P63 gene in a patient with EEC syndrome. (11683779)
2001
40
Counseling dilemmas in EEC syndrome. (10756423)
2000
41
Heterozygous germline missense mutation in the p63 gene underlying EEC syndrome. (11012604)
2000
42
Heterozygous germline mutations in the p53 homolog p63 are the cause of EEC syndrome. (10535733)
1999
43
What syndrome is this? Ectrodactyly, ectodermal dysplasia, and cleft palate (EEC) syndrome. (9192423)
1997
44
Ocular manifestations in a father and son with EEC syndrome. (9285221)
1997
45
Absent meibomian glands: a marker for EEC syndrome. (8796162)
1996
46
Ectrodactyly-ectodermal dysplasia--clefting (EEC) syndrome. (8859102)
1996
47
Amniotic bands and the EEC syndrome. (9125326)
1996
48
Rectal atresia as rare manifestation in EEC syndrome. (8723108)
1996
49
The EEC syndrome: a literature study. (8723561)
1996
50
EEC syndrome and genitourinary anomalies: an update. (8737655)
1996

Variations for Eec Syndrome

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Expression for genes affiliated with Eec Syndrome

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Search GEO for disease gene expression data for Eec Syndrome.

Pathways for genes affiliated with Eec Syndrome

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GO Terms for genes affiliated with Eec Syndrome

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Cellular components related to Eec Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1nuclear matrixGO:001636310.0PSPC1, SATB2
2transcription factor complexGO:00056679.5SATB2, TP63

Biological processes related to Eec Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1chromatin remodelingGO:000633810.2SATB2, TP63
2positive regulation of osteoblast differentiationGO:00456699.9TP63, WNT10B
3cellular response to organic substanceGO:00713109.9SATB2, WNT10B
4negative regulation of transcription from RNA polymerase II promoterGO:00001229.4SATB2, TP63, WNT10B
5positive regulation of transcription from RNA polymerase II promoterGO:00459448.7SATB2, TP63, WNT10B

Sources for Eec Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet