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

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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:

MalaCards categories:
Global: Genetic diseases
Anatomical: Nephrological diseases

See all MalaCards categories (disease lists)

External Ids:

OMIM ⁵⁶ 618845

OMIM Phenotypic Series ⁵⁶ PS617660

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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.

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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

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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

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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

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

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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

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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	Szot JO...Dunwoodie SL	31883644	2020

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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	PubmedIds
1	NADSYN1	NAD Synthetase 1	Protein Coding	908.73	Molecular basis known ⁵⁶ Pathogenic ⁶ GeneCards inferred via : Variants (show sections)	31883644

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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

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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.

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

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

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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:

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:

Symptoms & Phenotypes for 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