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 47 24
Rudiger Syndrome 1 11 47 67
Walker-Clodius Syndrome 11 47
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 47
 
Ectrodactyly-Ectodermal Dysplasia-Cleft Lip/cleft Palate 47
Ectrodactyly-Ectodermal Dysplasia-Clefting Syndrome 47
Ectrodactyly, Ectodermal Dysplasia, Clefting Syndrome 24
Ectrodactyly-Ectodermal Dysplasia-Clefting Syndrome 11
Ectrodactyly-Cleft Lip/palate Syndrome 47

Classifications:



External Ids:

Disease Ontology11 DOID:0060782
ICD1029 Q82.4

Summaries for Eec Syndrome

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

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.

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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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

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:

35
B cells, Skin, Breast

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 86)
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 Clefting (EEC) Syndrome: A Rare Cause of Congenital Lacrimal Anomalies. (24801258)
2014
3
Ectrodactyly-ectodermal dysplasia clefting syndrome (EEC syndrome). (25737931)
2014
4
Two interesting cases of EEC syndrome. (25737881)
2013
5
An allelic series of Trp63 mutations defines TAp63 as a modifier of EEC syndrome. (23775923)
2013
6
APR-246/PRIMA-1(MET) rescues epidermal differentiation in skin keratinocytes derived from EEC syndrome patients with p63 mutations. (23355676)
2013
7
EEC syndrome-like phenotype in a patient with an IRF6 mutation. (22488974)
2012
8
EEC syndrome with a de novo mutation (c.953g > a) on exon 7 of P63 gene: a case report. (23431748)
2012
9
Phenotypic analysis of Arg227 mutations of TP63 with emphasis on dental phenotype and micturition difficulties in EEC syndrome. (21204238)
2011
10
ADULT syndrome caused by a mutation previously associated with EEC syndrome. (21078104)
2010
11
Adipsic hypernatremia and bilateral renal stones in a child with ectrodactyly-ectodermal dysplasia-cleft lip-palate (EEC) syndrome. (20681222)
2010
12
White sponge nevus in a patient with EEC syndrome. (20492824)
2010
13
The EEC syndrome and SHFM: report of two cases and mutation analysis of p63 gene. (21434540)
2010
14
Do you know this syndrome? Ectrodactyly - ectodermal dysplasia - cleft lip/palate(EEC) syndrome. (20944926)
2010
15
EEC syndrome sans clefting: variable clinical presentations in a family. (17314449)
2007
16
EEC syndrome, Arg227Gln TP63 mutation and micturition difficulties: Is there a genotype-phenotype correlation? (17431922)
2007
17
Lobster-claw hand: a manifestation of EEC syndrome. (16481713)
2006
18
A case of EEC syndrome with peri/intraoral papillomatosis and widespread freckling. (16620233)
2006
19
Ectrodactyly, ectodermal dysplasia and clefting (EEC) syndrome. (12702090)
2003
20
EEC syndrome (ectrodactyly-ectodermal dysplasia-clefting): a clinical case report. (11985198)
2001
21
p63 gene mutations in EEC syndrome, limb-mammary syndrome, and isolated split hand-split foot malformation suggest a genotype- phenotype correlation. (11462173)
2001
22
A de novo mutation (R279C) in the P63 gene in a patient with EEC syndrome. (11683779)
2001
23
Counseling dilemmas in EEC syndrome. (10756423)
2000
24
What syndrome is this? Ectrodactyly, ectodermal dysplasia, and cleft palate (EEC) syndrome. (9192423)
1997
25
Absent meibomian glands: a marker for EEC syndrome. (8796162)
1996
26
Ectrodactyly-ectodermal dysplasia--clefting (EEC) syndrome. (8859102)
1996
27
Amniotic bands and the EEC syndrome. (9125326)
1996
28
Twenty-four cases of the EEC syndrome: clinical presentation and management. (8544192)
1995
29
EEC syndrome with diabetes insipidus and hypogonadism. (8194569)
1994
30
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
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
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
EEC syndrome without ectrodactyly: report of two new families. (2325090)
1990
38
A case of the Freire-Maia Odontotrichomelic syndrome: nosology with EEC syndrome. (2764029)
1989
39
Prenatal diagnosis of the ectrodactyly, ectodermal dysplasia, cleft palate (EEC) syndrome. (2661862)
1989
40
The EEC syndrome and its ocular manifestations. (2713303)
1989
41
EEC syndrome sine sine? Report of a family with oligosymptomatic EEC syndrome. (3359668)
1988
42
Further reports of urinary tract involvement in EEC syndrome. (3962929)
1986
43
Urinary tract involvement in EEC syndrome. (4061420)
1985
44
EEC syndrome without ectrodactyly? Report of 8 cases. (4042394)
1985
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 and cleft palate (EEC syndrome). Report of a family and review of the literature. (1261073)
1976
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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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
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet