Details of Disease

General Information of Disease (ID: DISIYS7L)

Disease Name EEC syndrome
Synonyms
ectrodactyly-ectodermal dysplasia-cleft lip/cleft palate; RUDIGER syndrome; ectrodactyly-cleft lip/palate syndrome; ectrodactyly-ectodermal dysplasia-clefting (EEC) syndrome; ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome; ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome; Walker-Clodius syndrome; Ectrodactyly Ectodermal Dysplasia Cleft Lip/Palate; ectrodactyly-ectodermal dysplasia-cleft syndrome; Rudiger syndrome 1; ectrodactyly-ectodermal dysplasia-clefting syndrome
Definition EEC syndrome is a genetic developmental disorder characterized by ectrodactyly, ectodermal dysplasia, and orofacial clefts (cleft lip/palate).
Disease Hierarchy
DIS6SVEE: Syndromic disease
DIS3LICD: Congenital limb malformation
DISHPNVX: Dysplasia
DISQ1B1S: Disorder of visual system
DIS3HIWD: Autosomal dominant disease
DISIYS7L: EEC syndrome
Disease Identifiers
MONDO ID
MONDO_0010004
MESH ID
C536189
UMLS CUI
C0406704
OMIM ID
268650
MedGen ID
98357
Orphanet ID
1896
SNOMED CT ID
39788007

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DME Molecule(s)
Gene Name DME ID Evidence Level Mode of Inheritance REF
DHRS3 DEXPVUN Strong Genetic Variation [1]
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This Disease Is Related to 2 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
TP63 OT0WOOKQ Supportive Autosomal dominant [2]
PRIMA1 OT9ITT3P Strong Genetic Variation [3]
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References

1 The retinal dehydrogenase/reductase retSDR1/DHRS3 gene is activated by p53 and p63 but not by mutants derived from tumors or EEC/ADULT malformation syndromes.Cell Cycle. 2010 Jun 1;9(11):2177-88. doi: 10.4161/cc.9.11.11844. Epub 2010 Jun 1.
2 Limbal stem cell deficiency and ocular phenotype in ectrodactyly-ectodermal dysplasia-clefting syndrome caused by p63 mutations. Ophthalmology. 2012 Jan;119(1):74-83. doi: 10.1016/j.ophtha.2011.06.044. Epub 2011 Sep 28.
3 APR-246/PRIMA-1(MET) rescues epidermal differentiation in skin keratinocytes derived from EEC syndrome patients with p63 mutations.Proc Natl Acad Sci U S A. 2013 Feb 5;110(6):2157-62. doi: 10.1073/pnas.1201993110. Epub 2013 Jan 25.