MCID: ECS001
MIFTS: 16

Eec Syndrome malady

Summaries for Eec Syndrome

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42NIH Rare Diseases, 32MalaCards
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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: Eec Syndrome, also known as ectrodactyly-ectodermal dysplasia-clefting syndrome, is related to cleft lip and cleft palate. An important gene associated with Eec Syndrome is TP63 (tumor protein p63). Affiliated tissues include eye.

Aliases & Classifications for Eec Syndrome

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42NIH Rare Diseases, 20GeneTests, 60UMLS
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Aliases & Descriptions:

eec syndrome 42
ectrodactyly-ectodermal dysplasia-clefting syndrome 42 20
ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 1 60
ectrodactyly-ectodermal dysplasia-cleft lip/cleft palate 42
ectrodactyly-cleft lip/palate syndrome 42
walker-clodius syndrome 42
rudiger syndrome 1 42


Related Diseases for Eec Syndrome

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17GeneCards, 18GeneDecks
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Graphical network of the top 20 diseases related to Eec Syndrome:



Diseases related to eec syndrome

Clinical Features for Eec Syndrome

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Drugs & Therapeutics for Eec Syndrome

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Genetic Tests for Eec Syndrome

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20GeneTests
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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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32MalaCards
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MalaCards organs/tissues related to Eec Syndrome:

32
Eye

Animal Models for Eec Syndrome or affiliated genes

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Publications for Eec Syndrome

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Genetic Variations for Eec Syndrome

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Expression for genes affiliated with Eec Syndrome

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Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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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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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

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
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet