MCID: CNG532
MIFTS: 19

Congenital Vertebral-Cardiac-Renal Anomalies Syndrome

Categories: Cardiovascular diseases, Ear diseases, Fetal diseases, Nephrological diseases, Rare diseases

Aliases & Classifications for Congenital Vertebral-Cardiac-Renal Anomalies Syndrome

MalaCards integrated aliases for Congenital Vertebral-Cardiac-Renal Anomalies Syndrome:

Name: Congenital Vertebral-Cardiac-Renal Anomalies Syndrome 58
Congenital Nad Deficiency Disorder 58 6

Classifications:

Orphanet: 58  
Rare cardiac malformations
Rare renal diseases
Rare otorhinolaryngological diseases
Developmental anomalies during embryogenesis


External Ids:

Orphanet 58 ORPHA521438

Summaries for Congenital Vertebral-Cardiac-Renal Anomalies Syndrome

MalaCards based summary : Congenital Vertebral-Cardiac-Renal Anomalies Syndrome, also known as congenital nad deficiency disorder, is related to vertebral, cardiac, renal, and limb defects syndrome 1 and vertebral, cardiac, renal, and limb defects syndrome 3. An important gene associated with Congenital Vertebral-Cardiac-Renal Anomalies Syndrome is HAAO (3-Hydroxyanthranilate 3,4-Dioxygenase), and among its related pathways/superpathways are NAD metabolism and Histidine, lysine, phenylalanine, tyrosine, proline and tryptophan catabolism. Related phenotypes are Decreased shRNA abundance (Z-score < -2) and Decreased shRNA abundance (Z-score < -2)

Related Diseases for Congenital Vertebral-Cardiac-Renal Anomalies Syndrome

Diseases related to Congenital Vertebral-Cardiac-Renal Anomalies Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 vertebral, cardiac, renal, and limb defects syndrome 1 31.6 MTA3 HAAO
2 vertebral, cardiac, renal, and limb defects syndrome 3 11.4
3 vertebral, cardiac, renal, and limb defects syndrome 2 11.3

Symptoms & Phenotypes for Congenital Vertebral-Cardiac-Renal Anomalies Syndrome

GenomeRNAi Phenotypes related to Congenital Vertebral-Cardiac-Renal Anomalies Syndrome according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-123 9.17 HAAO
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-139 9.17 KYNU
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-152 9.17 HAAO
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-207 9.17 HAAO
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-27 9.17 KYNU
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-76 9.17 KYNU
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-91 9.17 KYNU

Drugs & Therapeutics for Congenital Vertebral-Cardiac-Renal Anomalies Syndrome

Search Clinical Trials , NIH Clinical Center for Congenital Vertebral-Cardiac-Renal Anomalies Syndrome

Genetic Tests for Congenital Vertebral-Cardiac-Renal Anomalies Syndrome

Anatomical Context for Congenital Vertebral-Cardiac-Renal Anomalies Syndrome

Publications for Congenital Vertebral-Cardiac-Renal Anomalies Syndrome

Articles related to Congenital Vertebral-Cardiac-Renal Anomalies Syndrome:

# Title Authors PMID Year
1
Bi-allelic Mutations in NADSYN1 Cause Multiple Organ Defects and Expand the Genotypic Spectrum of Congenital NAD Deficiency Disorders. 6
31883644 2020
2
NAD Deficiency, Congenital Malformations, and Niacin Supplementation. 6
28792876 2017

Variations for Congenital Vertebral-Cardiac-Renal Anomalies Syndrome

ClinVar genetic disease variations for Congenital Vertebral-Cardiac-Renal Anomalies Syndrome:

6 (show all 11)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 NADSYN1 NM_018161.5(NADSYN1):c.145T>C (p.Cys49Arg) SNV Pathogenic 869157 GRCh37: 11:71166215-71166215
GRCh38: 11:71455169-71455169
2 NADSYN1 NM_018161.5(NADSYN1):c.395G>T (p.Trp132Leu) SNV Pathogenic 869158 GRCh37: 11:71175176-71175176
GRCh38: 11:71464130-71464130
3 HAAO , MTA3 NM_012205.3(HAAO):c.558G>A (p.Trp186Ter) SNV Pathogenic 403728 rs1135401743 GRCh37: 2:42996925-42996925
GRCh38: 2:42769785-42769785
4 KYNU NM_003937.3(KYNU):c.1045_1051del (p.Phe349fs) Deletion Pathogenic 403731 rs770642379 GRCh37: 2:143797999-143798005
GRCh38: 2:143040430-143040436
5 KYNU NM_003937.3(KYNU):c.170-1G>T SNV Pathogenic 403729 rs1135401744 GRCh37: 2:143676177-143676177
GRCh38: 2:142918608-142918608
6 KYNU NM_003937.3(KYNU):c.468T>A (p.Tyr156Ter) SNV Pathogenic 403730 rs758865880 GRCh37: 2:143713804-143713804
GRCh38: 2:142956235-142956235
7 HAAO , MTA3 NM_012205.3(HAAO):c.483dup (p.Asp162Ter) Duplication Pathogenic 403727 rs527656756 GRCh37: 2:42997283-42997284
GRCh38: 2:42770144-42770144
8 NADSYN1 NM_018161.5(NADSYN1):c.1717G>A (p.Ala573Thr) SNV Pathogenic 834710 GRCh37: 11:71202902-71202902
GRCh38: 11:71491856-71491856
9 NADSYN1 NM_018161.5(NADSYN1):c.1819del (p.Val607fs) Deletion Pathogenic 834711 GRCh37: 11:71208582-71208582
GRCh38: 11:71497536-71497536
10 NADSYN1 NM_018161.5(NADSYN1):c.1839C>G (p.Tyr613Ter) SNV Pathogenic 834715 GRCh37: 11:71208603-71208603
GRCh38: 11:71497557-71497557
11 NADSYN1 NM_018161.5(NADSYN1):c.735T>A (p.Cys245Ter) SNV Pathogenic 834713 GRCh37: 11:71185509-71185509
GRCh38: 11:71474463-71474463

Expression for Congenital Vertebral-Cardiac-Renal Anomalies Syndrome

Search GEO for disease gene expression data for Congenital Vertebral-Cardiac-Renal Anomalies Syndrome.

Pathways for Congenital Vertebral-Cardiac-Renal Anomalies Syndrome

Pathways related to Congenital Vertebral-Cardiac-Renal Anomalies Syndrome according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.58 NADSYN1 KYNU HAAO
2
Show member pathways
11.41 KYNU HAAO
3
Show member pathways
11.35 NADSYN1 KYNU HAAO
4
Show member pathways
11.22 KYNU HAAO
5
Show member pathways
10.73 NADSYN1 KYNU HAAO

GO Terms for Congenital Vertebral-Cardiac-Renal Anomalies Syndrome

Biological processes related to Congenital Vertebral-Cardiac-Renal Anomalies Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 pyridine nucleotide biosynthetic process GO:0019363 9.37 KYNU HAAO
2 tryptophan catabolic process GO:0006569 9.32 KYNU HAAO
3 'de novo' NAD biosynthetic process from tryptophan GO:0034354 9.26 KYNU HAAO
4 anthranilate metabolic process GO:0043420 9.16 KYNU HAAO
5 quinolinate biosynthetic process GO:0019805 8.96 KYNU HAAO
6 NAD biosynthetic process GO:0009435 8.8 NADSYN1 KYNU HAAO

Sources for Congenital Vertebral-Cardiac-Renal Anomalies Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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