Details of Disease | DrugMAP

General Information of Disease (ID: DIS4X57K)

Disease Name	Vertebral, cardiac, renal, and limb defects syndrome 3
Synonyms	VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 3; VCRL3; vertebral, cardiac, renal, and limb defects syndrome 3; Congenital Nad Deficiency Disorder 3
Disease Hierarchy	DISR2YKP: Congenital vertebral-cardiac-renal anomalies syndrome DIS4X57K: Vertebral, cardiac, renal, and limb defects syndrome 3
Disease Identifiers	MONDO ID MONDO_0030077 UMLS CUI C5394250 OMIM ID 618845 MedGen ID 1709064

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
NADSYN1	DELF8BA	Moderate	Autosomal recessive	[1]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
NADSYN1	OTD5FS4Q	Moderate	Autosomal recessive	[1]
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References

1	Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.