VCRL3
MCID: VRT017
MIFTS: 22

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 57 73 6
Vcrl3 57 73
Vertebral, Cardiac, Renal, and Limb Defects Syndrome, Type 3 39
Congenital Nad Deficiency Disorder 3 57
Congenital Nad Deficiency Disorder 73

Characteristics:

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
autosomal recessive

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


HPO:

31
vertebral, cardiac, renal, and limb defects syndrome 3:
Onset and clinical course death in infancy
Inheritance autosomal recessive inheritance


Classifications:



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

OMIM® : 57 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) (Updated 05-Mar-2021)

MalaCards based summary : Vertebral, Cardiac, Renal, and Limb Defects Syndrome 3, also known as vcrl3, is related to vertebral, cardiac, renal, and limb defects syndrome 1 and congenital vertebral-cardiac-renal anomalies syndrome. An important gene associated with Vertebral, Cardiac, Renal, and Limb Defects Syndrome 3 is NADSYN1 (NAD Synthetase 1). Affiliated tissues include bone, cortex and heart, and related phenotypes are bicuspid aortic valve and hypoplastic left heart

UniProtKB/Swiss-Prot : 73 Vertebral, cardiac, renal, and limb defects syndrome 3: An autosomal recessive, lethal disorder characterized by severe cardiac and renal anomalies, 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. Death occurs in early infancy.

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

Diseases related to Vertebral, Cardiac, Renal, and Limb Defects Syndrome 3 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 11.4
2 congenital vertebral-cardiac-renal anomalies syndrome 11.4
3 vertebral, cardiac, renal, and limb defects syndrome 2 11.3

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

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

31 (show all 13)
# Description HPO Frequency HPO Source Accession
1 bicuspid aortic valve 31 very rare (1%) HP:0001647
2 hypoplastic left heart 31 very rare (1%) HP:0004383
3 talipes equinovarus 31 very rare (1%) HP:0001762
4 patent ductus arteriosus 31 very rare (1%) HP:0001643
5 sacral dimple 31 very rare (1%) HP:0000960
6 unilateral renal agenesis 31 very rare (1%) HP:0000122
7 ureteral atresia 31 very rare (1%) HP:0005999
8 bilateral renal agenesis 31 very rare (1%) HP:0010958
9 double outlet right ventricle 31 very rare (1%) HP:0001719
10 anomalous origin of left coronary artery from the pulmonary artery 31 very rare (1%) HP:0011638
11 short thorax 31 HP:0010306
12 vertebral fusion 31 HP:0002948
13 short long bone 31 HP:0003026

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
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 (Updated 05-Mar-2021)

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, Cortex, Heart

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. 57 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
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 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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