MCID: CNG532
MIFTS: 17

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 3 and vertebral, cardiac, renal, and limb defects syndrome 1. 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 Histidine, lysine, phenylalanine, tyrosine, proline and tryptophan catabolism and NAD metabolism. 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 3 11.7
2 vertebral, cardiac, renal, and limb defects syndrome 1 11.6
3 vertebral, cardiac, renal, and limb defects syndrome 2 11.4

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

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

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

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
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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