Details of Disease | DrugMAP

General Information of Disease (ID: DISWSKIF)

Disease Name	Ellis-van Creveld syndrome
Synonyms	Mesoectodermal dysplasia; Ellis-van Creveld syndrome; Chondroectodermal dysplasia; Ellis Van Creveld Syndrome; Ellis-VAN Creveld syndrome; Ellis Van Creveld syndrome; mesodermic dysplasia; EVC
Definition	Ellis-van Creveld syndrome (EVC) is a skeletal and ectoderlam dysplasia characterized by a tetrad of short stature, postaxial polydactyly, ectodermal dysplasia, and congenital heart defects.
Disease Hierarchy	DISMT2VZ: Cardiogenetic disease DISCPWH9: Autosomal recessive disease DISLC357: Jeune syndrome DISLRS4M: Ectodermal dysplasia DISWSKIF: Ellis-van Creveld syndrome
Disease Identifiers	MONDO ID MONDO_0009162 MESH ID D004613 UMLS CUI C0013903 OMIM ID 225500 MedGen ID 8584 Orphanet ID 289 SNOMED CT ID 62501005

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 3 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
GLI1	TTJOMH6	Supportive	Autosomal recessive	[1]
GLI1	TTJOMH6	Strong	Altered Expression	[1]
STK32B	TT4D2GZ	Strong	Biomarker	[2]
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This Disease Is Related to 1 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
CRMP1	DE0EUXB	Strong	CausalMutation	[3]
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This Disease Is Related to 6 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
DYNC2LI1	OT1X5YGJ	Supportive	Autosomal recessive	[4]
GLI1	OT1BTAJO	Supportive	Autosomal recessive	[1]
EFCAB7	OTE0EG10	Strong	Genetic Variation	[5]
KPNA4	OTP0EX18	Strong	Genetic Variation	[6]
EVC	OTRVYMXJ	Definitive	Autosomal recessive	[7]
EVC2	OTY0M5SD	Definitive	Autosomal recessive	[7]
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⏷ Show the Full List of 6 DOT(s)

References

1	GLI1 inactivation is associated with developmental phenotypes overlapping with Ellis-van Creveld syndrome. Hum Mol Genet. 2017 Dec 1;26(23):4556-4571. doi: 10.1093/hmg/ddx335.
2	Long interspersed nuclear element-1 (LINE1)-mediated deletion of EVC, EVC2, C4orf6, and STK32B in Ellis-van Creveld syndrome with borderline intelligence.Hum Mutat. 2008 Jul;29(7):931-8. doi: 10.1002/humu.20778.
3	Expanding the genetic architecture and phenotypic spectrum in the skeletal ciliopathies. Hum Mutat. 2018 Jan;39(1):152-166. doi: 10.1002/humu.23362. Epub 2017 Nov 6.
4	DYNC2LI1 mutations broaden the clinical spectrum of dynein-2 defects. Sci Rep. 2015 Jul 1;5:11649. doi: 10.1038/srep11649.
5	Truncation and microdeletion of EVC/EVC2 with missense mutation of EFCAB7 in Ellis-van Creveld syndrome.Congenit Anom (Kyoto). 2016 Sep;56(5):209-16. doi: 10.1111/cga.12155.
6	Exclusion of the Ellis-van Creveld region on chromosome 4p16 in some families with asphyxiating thoracic dystrophy and short-rib polydactyly syndromes.Eur J Hum Genet. 2000 Aug;8(8):645-8. doi: 10.1038/sj.ejhg.5200507.
7	Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.