Details of Disease | DrugMAP

General Information of Disease (ID: DISR2YKP)

Disease Name	Congenital vertebral-cardiac-renal anomalies syndrome
Synonyms	vertebral, cardiac, renal, and limb defects syndrome; VCRL
Disease Hierarchy	DISMT2VZ: Cardiogenetic disease DISCPWH9: Autosomal recessive disease DISD0WVL: Multiple congenital anomalies/dysmorphic syndrome without intellectual disability DISR2YKP: Congenital vertebral-cardiac-renal anomalies syndrome
Disease Identifiers	MONDO ID MONDO_0020831 UMLS CUI C5680183 MedGen ID 1814457 Orphanet ID 521438 SNOMED CT ID 1260142000

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
HAAO	TTWON83	Supportive	Autosomal recessive	[1]
KYNU	TTWQM3J	Supportive	Autosomal recessive	[1]
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This Disease Is Related to 1 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
NADSYN1	DELF8BA	Supportive	Autosomal recessive	[2]
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This Disease Is Related to 3 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
HAAO	OTK9Y6SG	Supportive	Autosomal recessive	[1]
KYNU	OTINL2RE	Supportive	Autosomal recessive	[1]
NADSYN1	OTD5FS4Q	Supportive	Autosomal recessive	[2]
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References

1	NAD Deficiency, Congenital Malformations, and Niacin Supplementation. N Engl J Med. 2017 Aug 10;377(6):544-552.
2	Bi-allelic Mutations in NADSYN1 Cause Multiple Organ Defects and Expand the Genotypic Spectrum of Congenital NAD Deficiency Disorders. Am J Hum Genet. 2020 Jan 2;106(1):129-136. doi: 10.1016/j.ajhg.2019.12.006. Epub 2019 Dec 26.