VCRL3
MCID: VRT017
MIFTS: 16

Vertebral, Cardiac, Renal, and Limb Defects Syndrome 3 (VCRL3)

Categories: Genetic diseases, Nephrological diseases

Aliases & Classifications for Vertebral, Cardiac, Renal, and Limb Defects Syndrome 3

MalaCards integrated aliases for Vertebral, Cardiac, Renal, and Limb Defects Syndrome 3:

Name: Vertebral, Cardiac, Renal, and Limb Defects Syndrome 3 56 6
Congenital Nad Deficiency Disorder 3 56
Vcrl3 56

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
death in early infancy due to severe cardiac and renal anomalies


Classifications:



External Ids:

OMIM 56 618845
OMIM Phenotypic Series 56 PS617660

Summaries for Vertebral, Cardiac, Renal, and Limb Defects Syndrome 3

OMIM : 56 Vertebral, cardiac, renal, and limb defects syndrome-3 (VCRL3) is an autosomal recessive disorder characterized by severe cardiac and renal anomalies that are lethal in infancy, including hypoplastic or absent left ventricle, transposition of the great arteries, absent pulmonary trunk, and hypoplastic or absent kidneys. Patients also exhibit vertebral segmentation defects and shortening of the proximal long bones or micromelia (Szot et al., 2020). For a discussion of genetic heterogeneity of VCRL, see VCRL1 (617660). (618845)

MalaCards based summary : Vertebral, Cardiac, Renal, and Limb Defects Syndrome 3, is also known as congenital nad deficiency disorder 3. An important gene associated with Vertebral, Cardiac, Renal, and Limb Defects Syndrome 3 is NADSYN1 (NAD Synthetase 1). Affiliated tissues include bone, kidney and cortex.

Related Diseases for Vertebral, Cardiac, Renal, and Limb Defects Syndrome 3

Diseases in the Vertebral, Cardiac, Renal, and Limb Defects Syndrome 1 family:

Vertebral, Cardiac, Renal, and Limb Defects Syndrome 2 Vertebral, Cardiac, Renal, and Limb Defects Syndrome 3

Symptoms & Phenotypes for Vertebral, Cardiac, Renal, and Limb Defects Syndrome 3

Symptoms via clinical synopsis from OMIM:

56
Skeletal Spine:
scoliosis
sacral dimple
vertebral fusion defects
vertebral segmentation defects

Cardiovascular Heart:
bicuspid aortic valve
double-outlet right ventricle
hypoplastic or absent left ventricle
hypoplastic or absent mitral valve
infundibular ventricular septal defect
more
Cardiovascular Vascular:
transposition of the great arteries
patent ductus arteriosus, bidirectional
tubular hyperplasia of left aortic arch
coarctation of aortic arch
anomalous origin of left coronary artery from right pulmonary artery
more
Skeletal Limbs:
bowing of lower extremities
shortening of proximal long bones
micromelia (in some patients)

Abdomen Spleen:
polysplenia (in some patients)

Genitourinary Ureters:
ureteral atresia and/or agenesis (in some patients)

Skeletal Feet:
club feet, bilateral (in some patients)

Chest External Features:
short thorax

Skin Nails Hair Skin:
sacral dimple

Respiratory Lung:
pulmonary hypoplasia (in some patients)

Chest Ribs Sternum Clavicles And Scapulae:
rib abnormalities (in some patients)

Genitourinary Kidneys:
hypoplastic or absent kidneys, unilateral or bilateral
hyperechoic renal cortex (in some patients)

Genitourinary Bladder:
small tubular bladder (in some patients)

Skin Nails Hair Hair:
sacral tuft of hair

Clinical features from OMIM:

618845

Drugs & Therapeutics for Vertebral, Cardiac, Renal, and Limb Defects Syndrome 3

Search Clinical Trials , NIH Clinical Center for Vertebral, Cardiac, Renal, and Limb Defects Syndrome 3

Genetic Tests for Vertebral, Cardiac, Renal, and Limb Defects Syndrome 3

Anatomical Context for Vertebral, Cardiac, Renal, and Limb Defects Syndrome 3

MalaCards organs/tissues related to Vertebral, Cardiac, Renal, and Limb Defects Syndrome 3:

40
Bone, Kidney, Cortex

Publications for Vertebral, Cardiac, Renal, and Limb Defects Syndrome 3

Articles related to Vertebral, Cardiac, Renal, and Limb Defects Syndrome 3:

# Title Authors PMID Year
1
Bi-allelic Mutations in NADSYN1 Cause Multiple Organ Defects and Expand the Genotypic Spectrum of Congenital NAD Deficiency Disorders. 56 6
31883644 2020

Variations for Vertebral, Cardiac, Renal, and Limb Defects Syndrome 3

ClinVar genetic disease variations for Vertebral, Cardiac, Renal, and Limb Defects Syndrome 3:

6 ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 NADSYN1 NM_018161.5(NADSYN1):c.1717G>A (p.Ala573Thr)SNV Pathogenic 834710 11:71202902-71202902 11:71491856-71491856
2 NADSYN1 NM_018161.5(NADSYN1):c.1819del (p.Val607fs)deletion Pathogenic 834711 11:71208582-71208582 11:71497536-71497536
3 NADSYN1 NM_018161.5(NADSYN1):c.735T>A (p.Cys245Ter)SNV Pathogenic 834713 11:71185509-71185509 11:71474463-71474463
4 NADSYN1 NM_018161.5(NADSYN1):c.1839C>G (p.Tyr613Ter)SNV Pathogenic 834715 11:71208603-71208603 11:71497557-71497557

Expression for Vertebral, Cardiac, Renal, and Limb Defects Syndrome 3

Search GEO for disease gene expression data for Vertebral, Cardiac, Renal, and Limb Defects Syndrome 3.

Pathways for Vertebral, Cardiac, Renal, and Limb Defects Syndrome 3

GO Terms for Vertebral, Cardiac, Renal, and Limb Defects Syndrome 3

Sources for Vertebral, Cardiac, Renal, and Limb Defects Syndrome 3

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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