Details of Disease | DrugMAP

General Information of Disease (ID: DISOLM9N)

Disease Name	Even-plus syndrome
Synonyms	epiphyseal and vertebral dysplasia, microtia, and flat Nose, plus associated malformations; epiphysial-vertebral-ear dysplasia-nose-plus associated findings syndrome; even-plus syndrome; EVPLS
Disease Hierarchy	DIS6SVEE: Syndromic disease DIS1JG9A: Spondyloepiphyseal dysplasia DISD0WVL: Multiple congenital anomalies/dysmorphic syndrome without intellectual disability DISOLM9N: Even-plus syndrome
Disease Identifiers	MONDO ID MONDO_0014801 UMLS CUI C4225180 OMIM ID 616854 MedGen ID 904613 Orphanet ID 496751 SNOMED CT ID 1260203008

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
HSPA9	TTMTPG3	Limited	Genetic Variation	[1]
HSPA9	TTMTPG3	Supportive	Autosomal recessive	[2]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
HSPA9	OT4TMVS9	Supportive	Autosomal recessive	[2]
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References

1	Biophysical Consequences of EVEN-PLUS Syndrome Mutations for the Function of Mortalin.J Phys Chem B. 2019 Apr 25;123(16):3383-3396. doi: 10.1021/acs.jpcb.9b00071. Epub 2019 Apr 12.
2	Mutations in the heat-shock protein A9 (HSPA9) gene cause the EVEN-PLUS syndrome of congenital malformations and skeletal dysplasia. Sci Rep. 2015 Nov 24;5:17154. doi: 10.1038/srep17154.