MCID: ECS001
MIFTS: 27

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
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 ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 and ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 1. An important gene associated with Eec Syndrome is TP63 (Tumor Protein P63). Affiliated tissues include b cells, 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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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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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
1AnestheticsPhase 49001

Interventional clinical trials:

idNameStatusNCT IDPhase
1The Trial of Pessary After Laser for TTTSRecruitingNCT01334489Phase 4
2Biomarkers in Samples From Patients With Endometrial CancerNot yet recruitingNCT01199250

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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
B cells, Skin, Breast

Publications for Eec Syndrome

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Articles related to Eec Syndrome:

(show top 50)    (show all 86)
idTitleAuthorsYear
1
Correction of mutant p63 in EEC syndrome using siRNA mediated allele specific silencing restores defective stem cell function. (26891374)
2016
2
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
3
Ectrodactyly, Ectodermal Dysplasia, Cleft Lip, and Palate (EEC Syndrome) with Tetralogy of Fallot: A Very Rare Combination. (26137453)
2015
4
Two case reports with literature review of the EEC syndrome: Clinical presentation and management. (27252974)
2015
5
Ectrodactyly Ectodermal Dysplasia Clefting (EEC) Syndrome: A Rare Cause of Congenital Lacrimal Anomalies. (24801258)
2014
6
Ectrodactyly-ectodermal dysplasia clefting syndrome (EEC syndrome). (25737931)
2014
7
Two interesting cases of EEC syndrome. (25737881)
2013
8
An allelic series of Trp63 mutations defines TAp63 as a modifier of EEC syndrome. (23775923)
2013
9
APR-246/PRIMA-1(MET) rescues epidermal differentiation in skin keratinocytes derived from EEC syndrome patients with p63 mutations. (23355676)
2013
10
Ectrodactyly-ectodermal dysplasia-cleft syndrome (EEC syndrome) with a developmental delay caused by R304W mutation in the tp63 gene. (24734328)
2013
11
EEC syndrome-like phenotype in a patient with an IRF6 mutation. (22488974)
2012
12
EEC syndrome with a de novo mutation (c.953g > a) on exon 7 of P63 gene: a case report. (23431748)
2012
13
Development of an allele-specific real-time PCR assay for discrimination and quantification of p63 R279H mutation in EEC syndrome. (22056627)
2012
14
Ectrodactyly, ectodermal dysplasia, cleft lip, and palate (EEC syndrome). (22919225)
2012
15
Ectrodactyly, ectodermal dysplasia, and cleft lip-palate (EEC) syndrome without clefting: a rare case report. (22398226)
2012
16
Prenatal Diagnosis of EEC Syndrome with "Lobster Claw" Anomaly by 3D Ultrasound. (22919554)
2012
17
Phenotypic analysis of Arg227 mutations of TP63 with emphasis on dental phenotype and micturition difficulties in EEC syndrome. (21204238)
2011
18
ADULT syndrome caused by a mutation previously associated with EEC syndrome. (21078104)
2010
19
Adipsic hypernatremia and bilateral renal stones in a child with ectrodactyly-ectodermal dysplasia-cleft lip-palate (EEC) syndrome. (20681222)
2010
20
White sponge nevus in a patient with EEC syndrome. (20492824)
2010
21
The EEC syndrome and SHFM: report of two cases and mutation analysis of p63 gene. (21434540)
2010
22
Do you know this syndrome? Ectrodactyly - ectodermal dysplasia - cleft lip/palate(EEC) syndrome. (20944926)
2010
23
EEC syndrome sans clefting: variable clinical presentations in a family. (17314449)
2007
24
EEC syndrome, Arg227Gln TP63 mutation and micturition difficulties: Is there a genotype-phenotype correlation? (17431922)
2007
25
EEC syndrome. (17322619)
2007
26
Lobster-claw hand: a manifestation of EEC syndrome. (16481713)
2006
27
A case of EEC syndrome with peri/intraoral papillomatosis and widespread freckling. (16620233)
2006
28
Breast reconstruction using deep inferior epigastric perforator flaps in EEC syndrome. (16817257)
2006
29
An unusual combination of EEC syndrome and hypomelanosis Ito due to a p63 mutation. (15889277)
2005
30
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
31
TP63 mutation and clefting modifier genes in an EEC syndrome family. (15324320)
2004
32
Ectrodactyly, ectodermal dysplasia and clefting (EEC) syndrome. (12702090)
2003
33
EEC syndrome type 3 with a heterozygous germline mutation in the P63 gene and B cell lymphoma. (12838557)
2003
34
EEC syndrome--a case report. (14700339)
2003
35
Analysis of the p63 gene in classical EEC syndrome, related syndromes, and non-syndromic orofacial clefts. (12161593)
2002
36
EEC syndrome (ectrodactyly-ectodermal dysplasia-clefting): a clinical case report. (11985198)
2001
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
A de novo mutation (R279C) in the P63 gene in a patient with EEC syndrome. (11683779)
2001
39
Counseling dilemmas in EEC syndrome. (10756423)
2000
40
Heterozygous germline missense mutation in the p63 gene underlying EEC syndrome. (11012604)
2000
41
Heterozygous germline mutations in the p53 homolog p63 are the cause of EEC syndrome. (10535733)
1999
42
What syndrome is this? Ectrodactyly, ectodermal dysplasia, and cleft palate (EEC) syndrome. (9192423)
1997
43
Ocular manifestations in a father and son with EEC syndrome. (9285221)
1997
44
Absent meibomian glands: a marker for EEC syndrome. (8796162)
1996
45
Ectrodactyly-ectodermal dysplasia--clefting (EEC) syndrome. (8859102)
1996
46
Amniotic bands and the EEC syndrome. (9125326)
1996
47
EEC syndrome and genitourinary anomalies: an update. (8737655)
1996
48
Rectal atresia as rare manifestation in EEC syndrome. (8723108)
1996
49
The EEC syndrome: a literature study. (8723561)
1996
50
Twenty-four cases of the EEC syndrome: clinical presentation and management. (8544192)
1995

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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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