MCID: ECS001
MIFTS: 26

Eec Syndrome malady

Genetic diseases, Rare diseases categories

Aliases & Classifications for Eec Syndrome

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Aliases & Descriptions for Eec Syndrome:

Name: Eec Syndrome 45 22
Ectrodactyly-Ectodermal Dysplasia-Clefting Syndrome 45 22
Rudiger Syndrome 1 45 65
Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/palate Syndrome 22
 
Ectrodactyly-Ectodermal Dysplasia-Cleft Lip/cleft Palate 45
Ectrodactyly-Cleft Lip/palate Syndrome 45
Familial Popliteal Pterygium Syndrome 65
Walker-Clodius Syndrome 45


Classifications:



Summaries for Eec Syndrome

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NIH Rare Diseases:45 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); abnormalities of the hair and glands; cleft lip and/or palate; distinctive facial features; and abnormalities of the eyes and urinary tract. in more than 90% of cases, it is caused by mutations in the tp63 gene. eec syndrome is inherited in an autosomal dominant manner. management typically requires evaluation by various specialists; treatment may vary depending on the signs and symptoms present in the affected individual. last updated: 4/13/2012

MalaCards based summary: Eec Syndrome, also known as ectrodactyly-ectodermal dysplasia-clefting syndrome, is related to ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 and ectodermal dysplasia. An important gene associated with Eec Syndrome is TP63 (Tumor Protein P63). Affiliated tissues include eye, b cells and breast.

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 for Eec Syndrome

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Drugs & Therapeutics for Eec Syndrome

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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)22
2 Ectrodactyly, Ectodermal Dysplasia, Clefting Syndrome22 TP63

Anatomical Context for Eec Syndrome

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MalaCards organs/tissues related to Eec Syndrome:

33
Eye, B cells, Breast, Skin

Animal Models for Eec Syndrome or affiliated genes

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Publications for Eec Syndrome

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Articles related to Eec Syndrome:

(show top 50)    (show all 82)
idTitleAuthorsYear
1
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
2
Ectrodactyly, Ectodermal Dysplasia, Cleft Lip, and Palate (EEC Syndrome) with Tetralogy of Fallot: A Very Rare Combination. (26137453)
2015
3
Two interesting cases of EEC syndrome. (25737881)
2013
4
EEC syndrome-like phenotype in a patient with an IRF6 mutation. (22488974)
2012
5
Development of an allele-specific real-time PCR assay for discrimination and quantification of p63 R279H mutation in EEC syndrome. (22056627)
2012
6
Phenotypic analysis of Arg227 mutations of TP63 with emphasis on dental phenotype and micturition difficulties in EEC syndrome. (21204238)
2011
7
Do you know this syndrome? Ectrodactyly - ectodermal dysplasia - cleft lip/palate(EEC) syndrome. (20944926)
2010
8
ADULT syndrome caused by a mutation previously associated with EEC syndrome. (21078104)
2010
9
Adipsic hypernatremia and bilateral renal stones in a child with ectrodactyly-ectodermal dysplasia-cleft lip-palate (EEC) syndrome. (20681222)
2010
10
EEC syndrome. (17322619)
2007
11
EEC syndrome sans clefting: variable clinical presentations in a family. (17314449)
2007
12
Lobster-claw hand: a manifestation of EEC syndrome. (16481713)
2006
13
A case of EEC syndrome with peri/intraoral papillomatosis and widespread freckling. (16620233)
2006
14
An unusual combination of EEC syndrome and hypomelanosis Ito due to a p63 mutation. (15889277)
2005
15
TP63 mutation and clefting modifier genes in an EEC syndrome family. (15324320)
2004
16
EEC syndrome type 3 with a heterozygous germline mutation in the P63 gene and B cell lymphoma. (12838557)
2003
17
p63 gene mutations in EEC syndrome, limb-mammary syndrome, and isolated split hand-split foot malformation suggest a genotype- phenotype correlation. (11462173)
2001
18
A de novo mutation (R279C) in the P63 gene in a patient with EEC syndrome. (11683779)
2001
19
Heterozygous germline missense mutation in the p63 gene underlying EEC syndrome. (11012604)
2000
20
Counseling dilemmas in EEC syndrome. (10756423)
2000
21
What syndrome is this? Ectrodactyly, ectodermal dysplasia, and cleft palate (EEC) syndrome. (9192423)
1997
22
Absent meibomian glands: a marker for EEC syndrome. (8796162)
1996
23
Ectrodactyly-ectodermal dysplasia--clefting (EEC) syndrome. (8859102)
1996
24
Amniotic bands and the EEC syndrome. (9125326)
1996
25
EEC syndrome and genitourinary anomalies: an update. (8737655)
1996
26
Rectal atresia as rare manifestation in EEC syndrome. (8723108)
1996
27
Anal atresia and abdominal wall defect as unusual symptoms in EEC syndrome. (7546455)
1995
28
EEC syndrome with diabetes insipidus and hypogonadism. (8194569)
1994
29
The breakpoints of the EEC syndrome (ectrodactyly, ectodermal dysplasia and cleft lip/palate) confirmed to 7q11.21 and 9p12 by fluorescence in situ hybridization. (8403456)
1993
30
Normal immunological status in four patients with ectrodactyly-ectodermal dysplasia-clefting syndrome (EEC-syndrome). (8500261)
1993
31
Urinary tract involvement in EEC syndrome: a clinical study in 25 Brazilian patients. (1481851)
1992
32
Dental management of a child with EEC syndrome. (1420102)
1992
33
Anaesthetic problems in a child with ectrodactyly, ectodermal dysplasia and cleft lip/palate. The EEC syndrome. (1539782)
1992
34
Ectodermal dysplasia, ectrodactyly, clefting, anophthalmia/microphthalmia, and genitourinary anomalies: nosology of Goltz-Gorlin syndrome versus EEC syndrome. (1536161)
1992
35
EEC syndrome (ectrodactyly, ectodermal dysplasia and cleft lip/palate) with a balanced reciprocal translocation between 7q11.21 and 9p12 (or 7p11.2 and 9q12) in three generations. (1773535)
1991
36
Dilemmas in counselling: the EEC syndrome. (2074560)
1990
37
EEC syndrome: report on 20 new patients, clinical and genetic considerations. (2240042)
1990
38
Choanal atresia as a feature of ectrodactyly-ectodermal dysplasia-clefting (EEC) syndrome: a further case. (2325099)
1990
39
A case of the Freire-Maia Odontotrichomelic syndrome: nosology with EEC syndrome. (2764029)
1989
40
Prenatal diagnosis of the ectrodactyly, ectodermal dysplasia, cleft palate (EEC) syndrome. (2661862)
1989
41
The EEC syndrome and its ocular manifestations. (2713303)
1989
42
EEC syndrome sine sine? Report of a family with oligosymptomatic EEC syndrome. (3359668)
1988
43
Urinary tract involvement in EEC syndrome. (4061420)
1985
44
A newly recognized feature of ectrodactyly, ectodermal dysplasia, clefting (EEC) syndrome: comedone naevus. (6479416)
1984
45
Trigeminal neuralgia due to dolichoectasia: angiographic and CT findings in a patient with the EEC syndrome. (7443046)
1980
46
Incomplete EEC syndrome in a patient with mosaic monosomy 21. (281284)
1978
47
Picture of the month: the EEC syndrome. (937283)
1976
48
Ectrodactyly-ectodermal dysplasia-clefting (EEC) syndrome: dominant inheritance and variable expression. (957377)
1976
49
The EEC syndrome. (4209740)
1974
50
Ectrodactyly-ectodermal dysplasia-clefting (EEC) syndrome. (5084384)
1972

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
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet