Details of Disease | DrugMAP

General Information of Disease (ID: DIS0MCIQ)

Disease Name	Vertebral, cardiac, renal, and limb defects syndrome 1
Synonyms	VCRL1; 3-hydroxyanthranilic acidemia; congenital NAD deficiency Disorder 1; vertebral, cardiac, renal, and limb defects syndrome 1
Disease Hierarchy	DISR2YKP: Congenital vertebral-cardiac-renal anomalies syndrome DIS0MCIQ: Vertebral, cardiac, renal, and limb defects syndrome 1
Disease Identifiers	MONDO ID MONDO_0060554 UMLS CUI C4540004 OMIM ID 617660 MedGen ID 1621146

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
KYNU	TTWQM3J	Limited	GermlineCausalMutation	[1]
HAAO	TTWON83	Strong	CausalMutation	[1]
HAAO	TTWON83	Definitive	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
HAAO	OTK9Y6SG	Definitive	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	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.