MCID: ECS001
MIFTS: 25

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 45 22
Rudiger Syndrome 1 45 65
Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/palate Syndrome 1 65
Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/palate Syndrome 22
Ectrodactyly-Ectodermal Dysplasia-Cleft Lip/cleft Palate 45
 
Ectrodactyly-Ectodermal Dysplasia-Clefting Syndrome 45
Ectrodactyly, Ectodermal Dysplasia, Clefting Syndrome 22
Ectrodactyly-Cleft Lip/palate Syndrome 45
Walker-Clodius Syndrome 45

Classifications:



External Ids:

UMLS65 C0406704, C1851841

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 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 exstrophy-epispadias complex. An important gene associated with Eec Syndrome is TP63 (Tumor Protein P63). Affiliated tissues include eye, lung and t cells.

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 47385

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)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, Lung, T cells, Prostate, Bone, Amygdala, 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 84)
idTitleAuthorsYear
1
Peak inflammation in atherosclerosis, primary biliary cirrhosis and autoimmune arthritis is counter-intuitively associated with regulatory T cell enrichment. (25770018)
2015
2
Pre-operative opioid analgesia reduces clinical success of laparoscopic gastric electrical stimulation placement in patients with gastroparesis. (25115865)
2014
3
Fecal microbiota transplantation and prednisone for severe eosinophilic gastroenteritis. (25473198)
2014
4
Brain pseudo-tumoral inflammatory lesion associated with chronic myelomonocytic leukemia. (23475392)
2013
5
Characterization of residential pesticide use and chemical formulations through self-report and household inventory: the Northern California Childhood Leukemia study. (23110983)
2013
6
A novel role for keratin 17 in coordinating oncogenic transformation and cellular adhesion in Ewing sarcoma. (24043308)
2013
7
Pitfalls for readers of "Special Issue on Pearls and Pitfalls in Headache Research" (23963357)
2013
8
Deciphering intracellular localization and physiological role of nociceptin and nocistatin. (23454174)
2013
9
Predictive factors for percutaneous nephrolithotomy outcomes in neurogenic bladder population. (22250919)
2012
10
Major molecular markers in pancreatic ductal adenocarcinoma and their roles in screening, diagnosis, prognosis, and treatment. (21673535)
2011
11
Atypical ECG presentation in a patient with tako-tsubo cardiomyopathy. (21432803)
2011
12
Ruptured cerebral oncotic aneurysm from choriocarcinoma: report of two cases and review of the literature. (21057824)
2011
13
Double CEBPE-IGH rearrangement due to chromosome duplication and cryptic insertion in an adult with B-cell acute lymphoblastic leukemia. (22137487)
2011
14
Serotonin transporter genotype modulates amygdala activity during mood regulation. (19858108)
2010
15
Decreased Cyp2E1 mRNA expression in human leucocytes in patients with fibrotic and inflammatory lung diseases. (20514434)
2010
16
A novel G102E mutation of CYP27B1 in a large family with vitamin D-dependent rickets type 1. (20534770)
2010
17
Intestinal myiasis caused by Muscina stabulans. (18227609)
2008
18
Common mutation analysis of GJB2 and GJB6 genes in affected families with autosomal recessive non-syndromic hearing loss from Iran: simultaneous detection of two common mutations (35delG/del(GJB6-D13S1830)) in the DFNB1-related deafness. (17368814)
2007
19
Interaction between warfarin and nafcillin: case report and review of the literature. (17896903)
2007
20
Renovascular hypertension: clinical concepts. (17008836)
2006
21
Solution structure and antiestrogenic activity of the unique C-terminal, NR-box motif-containing region of MTA1s. (16807247)
2006
22
Inhibition of L-type Cav1.2 Ca2+ channels by 2,(4-morpholinyl)-8-phenyl-4H-1-benzopyran-4-one (LY294002) and 2-[1-(3-dimethyl-aminopropyl)-5-methoxyindol-3-yl]-3-(1H-indol-3-yl) maleimide (Go6983). (15537868)
2005
23
Penile myiasis: a case report. (15169999)
2004
24
The molecular neuroimaging of anxiety disorders. (15260943)
2004
25
CHO intake alters obesity risk associated with Pro12Ala polymorphism of PPARgamma gene. (12744304)
2002
26
Fibrate and statin synergistically increase the transcriptional activities of PPARalpha/RXRalpha and decrease the transactivation of NFkappaB. (11779144)
2002
27
FOXL2 mutation screening in a large panel of POF patients and XX males. (12161610)
2002
28
Molecular characterization and developmental expression of NORPEG, a novel gene induced by retinoic acid. (11042181)
2001
29
Tay-Sachs disease and preimplantation genetic diagnosis. (11596992)
2001
30
Prostate adenocarcinoma cells release the novel proinflammatory polypeptide EMAP-II in response to stress. (10850427)
2000
31
There is a role for ABR audiometry in the diagnosis of acoustic neuroma. (10037294)
1999
32
Immunoreactivity of beta-amyloid precursor protein in amyotrophic lateral sclerosis. (10334483)
1999
33
Phenotypes in three pedigrees with autosomal dominant obesity caused by haploinsufficiency mutations in the melanocortin-4 receptor gene. (10577903)
1999
34
Zo-2 gene alternative promoters in normal and neoplastic human pancreatic duct cells. (10495427)
1999
35
The susceptibility of Philadelphia chromosome positive cells to FAS-mediated apoptosis is not linked to the tyrosine kinase activity of BCR-ABL. (9858222)
1998
36
Modulation of glutamine synthesis in cultured astrocytes by nitric oxide. (9262869)
1997
37
Decreased bone mineral density in medicated psychiatric patients. (8552740)
1995
38
Ocular manifestations of relapsing polychondritis. Three case histories. (7835185)
1994
39
Interactions of triply phosphorylated human beta-casein: fluorescence spectroscopy and light-scattering studies of conformation and self-association. (1898063)
1991
40
Considerations and techniques in the treatment of persons with multiple personality disorder. (2252074)
1990
41
Primary cutaneous neuroendocrine carcinoma (Merkel cell tumor). An adnexal epithelial neoplasm. (2138434)
1990
42
Mupirocin: a new topical therapy for impetigo. (2502615)
1989
43
Exclusion of the COL2A1 gene as the mutation site in diastrophic dysplasia. (2732992)
1989
44
Tear histamine levels in vernal conjunctivitis and other ocular inflammations. (7443214)
1980
45
Ovine coccidiosis. (7434548)
1980
46
Desquamative interstitial pneumonia (DIP). (295374)
1979
47
Myxedema and myotonic dystrophy. (5008040)
1972
48
Panhypopituitarism due to multiple myeloma. (5415797)
1970
49
Electrocardiographic anatomical correlations in endocardial fibroelastosis, with notes of vectorcardiographic studies in five living subjects. (14469883)
1962
50
Radiographic small intestine changes in cholelithiasis and postcholecystectomy syndrome. (13926184)
1962

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