Details of Disease

General Information of Disease (ID: DIS6SEVJ)

Disease Name Vertebral, cardiac, renal, and limb defects syndrome 2
Synonyms congenital NAD deficiency disorder 2; VCRL2; kynureninase deficiency, complete; vertebral, cardiac, renal, and limb defects syndrome 2
Definition
This term's classification was reviewed in the context of the Strategic Refinement project (2023) and was determined to be excluded from the 'musculoskeletal system disorder' (MONDO:0002081) ontology branch (https://orcid.org/0000-0001-9310-0163)
Disease Hierarchy
DISR2YKP: Congenital vertebral-cardiac-renal anomalies syndrome
DIS6SEVJ: Vertebral, cardiac, renal, and limb defects syndrome 2
Disease Identifiers
MONDO ID
MONDO_0060555
UMLS CUI
C4540014
OMIM ID
617661
MedGen ID
1624065

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
HAAO TTWON83 Limited GermlineCausalMutation [1]
KYNU TTWQM3J Strong Biomarker [1]
KYNU TTWQM3J 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
KYNU OTINL2RE 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.