Vertebral, Cardiac, Renal, and Limb Defects Syndrome 3 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

Sources

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:

MalaCards categories:
Global: Genetic diseases
Anatomical: Nephrological diseases

See all MalaCards categories (disease lists)

External Ids:

OMIM® ⁵⁷ 618845

OMIM Phenotypic Series ⁵⁷ PS617660

MeSH ⁴⁴ D000015

MedGen ⁴¹ C5394250 CN272929

SNOMED-CT via HPO ⁶⁸ 204974003 249670005 249729002 more

Sources

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.

Sources

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
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

Sources

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)

Sources

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

Sources

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

Sources

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

Sources

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	Szot JO...Dunwoodie SL	31883644	2020

Sources

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

Genes related to Vertebral, Cardiac, Renal, and Limb Defects Syndrome 3 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	NADSYN1	NAD Synthetase 1	Protein Coding	918.42	Molecular basis known ⁵⁷ Pathogenic ⁶ GeneCards inferred via : Disorders Variants (show sections)	31883644

Sources

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	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

Sources

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.

Sources

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

Sources

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

Sources

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

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ EFO

¹⁸ ExPASy

¹⁹ FMA

²⁰ GARD

²¹ GeneAnalytics

²² GeneCards

²³ GeneGo (Thomson Reuters)

²⁴ GeneHancer via GeneCards

²⁵ GeneReviews

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HMDB

³¹ HPO

³² ICD10

³³ ICD10 via Orphanet

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ KEGG

³⁷ LifeMap

³⁸ LncRNADisease

³⁹ LOVD

⁴⁰ MalaCards

⁴¹ MedGen

⁴² MedlinePlus

⁴³ MedlinePlus Genetics

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

⁴⁹ NCI

⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 05-Mar-2021)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubMed

⁶² PubMed Health

⁶³ QIAGEN

⁶⁴ R&D Systems

⁶⁵ Reactome

⁶⁶ Sino Biological

⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ TGDB

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ Wikipedia

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

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

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

Characteristics:

OMIM®:

HPO:

Classifications:

External Ids:

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

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

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

Diseases related to Vertebral, Cardiac, Renal, and Limb Defects Syndrome 3 via text searches within MalaCards or GeneCards Suite gene sharing:

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

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

Symptoms via clinical synopsis from OMIM®:

Clinical features from OMIM®:

Drugs & Therapeutics 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:

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

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

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

Genes related to Vertebral, Cardiac, Renal, and Limb Defects Syndrome 3 (1 elite genes):

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

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

Expression 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