MCID: ECS001
MIFTS: 29

Eec Syndrome malady

Genetic diseases, Rare diseases categories
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Summaries for Eec Syndrome

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NIH Rare Diseases:42 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 ectodermal dysplasia and cleft lip. An important gene associated with Eec Syndrome is TP63 (tumor protein p63). Affiliated tissues include eye, breast and skin.

Aliases & Classifications for Eec Syndrome

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Eec Syndrome, Aliases & Descriptions:

Name: Eec Syndrome 42
Ectrodactyly-Ectodermal Dysplasia-Clefting Syndrome 42 20
Ectrodactyly-Cleft Lip/palate Syndrome 42 62
Walker-Clodius Syndrome 42 62
 
Rudiger Syndrome 1 42 62
Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/palate Syndrome 1 62
Ectrodactyly-Ectodermal Dysplasia-Cleft Lip/cleft Palate 42


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases


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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Drug clinical trials:

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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-Tp73lrelated)20
2 Ectrodactyly, Ectodermal Dysplasia, Clefting Syndrome20 TP63

Anatomical Context for Eec Syndrome

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MalaCards organs/tissues related to Eec Syndrome:

32
Eye, Breast, Skin, B cells

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 79)
idTitleAuthorsYear
1
EEC syndrome-like phenotype in a patient with an IRF6 mutation. (22488974)
2012
2
Development of an allele-specific real-time PCR assay for discrimination and quantification of p63 R279H mutation in EEC syndrome. (22056627)
2012
3
Phenotypic analysis of Arg227 mutations of TP63 with emphasis on dental phenotype and micturition difficulties in EEC syndrome. (21204238)
2011
4
Do you know this syndrome? Ectrodactyly - ectodermal dysplasia - cleft lip/palate(EEC) syndrome. (20944926)
2010
5
ADULT syndrome caused by a mutation previously associated with EEC syndrome. (21078104)
2010
6
Adipsic hypernatremia and bilateral renal stones in a child with ectrodactyly-ectodermal dysplasia-cleft lip-palate (EEC) syndrome. (20681222)
2010
7
EEC syndrome. (17322619)
2007
8
EEC syndrome sans clefting: variable clinical presentations in a family. (17314449)
2007
9
Lobster-claw hand: a manifestation of EEC syndrome. (16481713)
2006
10
A case of EEC syndrome with peri/intraoral papillomatosis and widespread freckling. (16620233)
2006
11
An unusual combination of EEC syndrome and hypomelanosis Ito due to a p63 mutation. (15889277)
2005
12
TP63 mutation and clefting modifier genes in an EEC syndrome family. (15324320)
2004
13
EEC syndrome type 3 with a heterozygous germline mutation in the P63 gene and B cell lymphoma. (12838557)
2003
14
EEC syndrome (ectrodactyly-ectodermal dysplasia-clefting): a clinical case report. (11985198)
2001
15
p63 gene mutations in EEC syndrome, limb-mammary syndrome, and isolated split hand-split foot malformation suggest a genotype- phenotype correlation. (11462173)
2001
16
A de novo mutation (R279C) in the P63 gene in a patient with EEC syndrome. (11683779)
2001
17
Heterozygous germline missense mutation in the p63 gene underlying EEC syndrome. (11012604)
2000
18
Counseling dilemmas in EEC syndrome. (10756423)
2000
19
What syndrome is this? Ectrodactyly, ectodermal dysplasia, and cleft palate (EEC) syndrome. (9192423)
1997
20
Absent meibomian glands: a marker for EEC syndrome. (8796162)
1996
21
Ectrodactyly-ectodermal dysplasia--clefting (EEC) syndrome. (8859102)
1996
22
Amniotic bands and the EEC syndrome. (9125326)
1996
23
EEC syndrome and genitourinary anomalies: an update. (8737655)
1996
24
Rectal atresia as rare manifestation in EEC syndrome. (8723108)
1996
25
Anal atresia and abdominal wall defect as unusual symptoms in EEC syndrome. (7546455)
1995
26
EEC syndrome with diabetes insipidus and hypogonadism. (8194569)
1994
27
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
28
Normal immunological status in four patients with ectrodactyly-ectodermal dysplasia-clefting syndrome (EEC-syndrome). (8500261)
1993
29
Urinary tract involvement in EEC syndrome: a clinical study in 25 Brazilian patients. (1481851)
1992
30
Dental management of a child with EEC syndrome. (1420102)
1992
31
Anaesthetic problems in a child with ectrodactyly, ectodermal dysplasia and cleft lip/palate. The EEC syndrome. (1539782)
1992
32
Ectodermal dysplasia, ectrodactyly, clefting, anophthalmia/microphthalmia, and genitourinary anomalies: nosology of Goltz-Gorlin syndrome versus EEC syndrome. (1536161)
1992
33
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
34
Dilemmas in counselling: the EEC syndrome. (2074560)
1990
35
EEC syndrome: report on 20 new patients, clinical and genetic considerations. (2240042)
1990
36
Choanal atresia as a feature of ectrodactyly-ectodermal dysplasia-clefting (EEC) syndrome: a further case. (2325099)
1990
37
A case of the Freire-Maia Odontotrichomelic syndrome: nosology with EEC syndrome. (2764029)
1989
38
Prenatal diagnosis of the ectrodactyly, ectodermal dysplasia, cleft palate (EEC) syndrome. (2661862)
1989
39
The EEC syndrome and its ocular manifestations. (2713303)
1989
40
Genitourinary anomalies are a component manifestation in the ectodermal dysplasia, ectrodactyly, cleft lip/palate (EEC) syndrome. (3278611)
1988
41
EEC syndrome sine sine? Report of a family with oligosymptomatic EEC syndrome. (3359668)
1988
42
Urinary tract involvement in EEC syndrome. (4061420)
1985
43
A newly recognized feature of ectrodactyly, ectodermal dysplasia, clefting (EEC) syndrome: comedone naevus. (6479416)
1984
44
Trigeminal neuralgia due to dolichoectasia: angiographic and CT findings in a patient with the EEC syndrome. (7443046)
1980
45
Incomplete EEC syndrome in a patient with mosaic monosomy 21. (281284)
1978
46
Picture of the month: the EEC syndrome. (937283)
1976
47
Ectrodactyly-ectodermal dysplasia-clefting (EEC) syndrome: dominant inheritance and variable expression. (957377)
1976
48
The EEC syndrome. (4209740)
1974
49
Ectrodactyly-ectodermal dysplasia-clefting (EEC) syndrome. (5084384)
1972
50
The ectrodactyly-ectodermal dysplasia-clefting (EEC) syndrome. Report of 2 cases and review of the literature. (5013864)
1972

Variations for Eec Syndrome

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Expression for genes affiliated with Eec Syndrome

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Expression patterns in normal tissues for genes affiliated with Eec Syndrome

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Pathways for genes affiliated with Eec Syndrome

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Compounds for genes affiliated with Eec Syndrome

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GO Terms for genes affiliated with Eec Syndrome

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Products for genes affiliated with Eec Syndrome

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Sources for Eec Syndrome

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet