Vertebral, Cardiac, Renal, and Limb Defects Syndrome 1 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Vertebral, Cardiac, Renal, and Limb Defects Syndrome 1

MalaCards integrated aliases for Vertebral, Cardiac, Renal, and Limb Defects Syndrome 1:

Name: Vertebral, Cardiac, Renal, and Limb Defects Syndrome 1 ⁵⁸ ⁷⁶ ⁶

Congenital Nad Deficiency Disorder 1 ⁵⁸ ⁷⁶

3-Hydroxyanthranilic Acidemia ⁵⁸ ⁷⁶

Vcrl1 ⁵⁸ ⁷⁶

Characteristics:

OMIM:

⁵⁸

Inheritance:
autosomal recessive

Miscellaneous:
two unrelated patients (one iraqi and one lebanese) have been reported (last curated september 2017)
one patient died before age 1
slightly variable phenotype

Classifications:

MalaCards categories:
Global: Genetic diseases
Anatomical: Nephrological diseases

See all MalaCards categories (disease lists)

External Ids:

OMIM ⁵⁸ 617660

MeSH ⁴⁵ D000015

MedGen ⁴³ C4540004 CN482173

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Summaries for Vertebral, Cardiac, Renal, and Limb Defects Syndrome 1

OMIM : ⁵⁸ VCRL1 is an autosomal recessive congenital malformation syndrome characterized by vertebral segmentation abnormalities, congenital cardiac defects, renal defects, and distal mild limb defects. Additional features are variable (summary by Shi et al., 2017). (617660)

MalaCards based summary : Vertebral, Cardiac, Renal, and Limb Defects Syndrome 1, also known as congenital nad deficiency disorder 1, is related to vertebral, cardiac, renal, and limb defects syndrome 2. An important gene associated with Vertebral, Cardiac, Renal, and Limb Defects Syndrome 1 is HAAO (3-Hydroxyanthranilate 3,4-Dioxygenase). Affiliated tissues include kidney, and related phenotypes are intellectual disability and global developmental delay

UniProtKB/Swiss-Prot : ⁷⁶ Vertebral, cardiac, renal, and limb defects syndrome 1: An autosomal recessive congenital malformation syndrome characterized by vertebral segmentation abnormalities, congenital cardiac defects, renal defects, and distal mild limb defects.

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Related Diseases for Vertebral, Cardiac, Renal, and Limb Defects Syndrome 1

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

Vertebral, Cardiac, Renal, and Limb Defects Syndrome 2

Diseases related to Vertebral, Cardiac, Renal, and Limb Defects Syndrome 1 via text searches within MalaCards or GeneCards Suite gene sharing:

#	Related Disease	Score	Top Affiliating Genes
1	vertebral, cardiac, renal, and limb defects syndrome 2	11.1

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Symptoms & Phenotypes for Vertebral, Cardiac, Renal, and Limb Defects Syndrome 1

Human phenotypes related to Vertebral, Cardiac, Renal, and Limb Defects Syndrome 1:

³³ (show all 15)

#	Description	HPO Frequency	HPO Source Accession
1	intellectual disability ³³	very rare (1%)	HP:0001249
2	global developmental delay ³³	very rare (1%)	HP:0001263
3	laryngotracheomalacia ³³	very rare (1%)	HP:0008755
4	laryngeal web ³³	very rare (1%)	HP:0005950
5	cleft palate ³³		HP:0000175
6	atrial septal defect ³³		HP:0001631
7	hypoplastic left heart ³³		HP:0004383
8	butterfly vertebrae ³³		HP:0003316
9	bifid uvula ³³		HP:0000193
10	spinal dysraphism ³³		HP:0010301
11	aortic valve stenosis ³³		HP:0001650
12	mitral stenosis ³³		HP:0001718
13	absence of the sacrum ³³		HP:0010305
14	tethered cord ³³		HP:0002144
15	hypoplastic sacrum ³³		HP:0004590

Symptoms via clinical synopsis from OMIM:

⁵⁸

Head And Neck Head:
microcephaly

Head And Neck Mouth:
cleft palate
bifid uvula

Genitourinary Bladder:
vesicoureteral reflux

Skeletal Feet:
talipes

Head And Neck Ears:
hearing loss, sensorineural

Neurologic Central Nervous System:
delayed psychomotor development (1 patient)
intellectual disability (1 patient)

Chest Ribs Sternum Clavicles And Scapulae:
irregular ribs

Growth Height:
short stature

Cardiovascular Heart:
atrial septal defect
hypoplastic left heart
mitral stenosis
aortic stenosis
congenital cardiac defects

Skeletal Spine:
butterfly vertebrae
spinal dysraphism
tethered cord
sacral agenesis
hypoplastic sacrum
more

Genitourinary Kidneys:
hypoplastic kidneys

Skin Nails Hair Skin:
spinal lipoma

Respiratory Larynx:
laryngeal web (1 patient)
laryngotracheomalacia (1 patient)

Laboratory Abnormalities:
increased serum levels of 3-hydroxyanthranilic acid (3haa)
decreased serum levels of nicotinaminde adenine dinucleotide (nad) and nad(h)

Clinical features from OMIM:

617660

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Drugs & Therapeutics for Vertebral, Cardiac, Renal, and Limb Defects Syndrome 1

Search Clinical Trials , NIH Clinical Center for Vertebral, Cardiac, Renal, and Limb Defects Syndrome 1

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Genetic Tests for Vertebral, Cardiac, Renal, and Limb Defects Syndrome 1

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Anatomical Context for Vertebral, Cardiac, Renal, and Limb Defects Syndrome 1

MalaCards organs/tissues related to Vertebral, Cardiac, Renal, and Limb Defects Syndrome 1:

⁴²

Kidney

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Publications for Vertebral, Cardiac, Renal, and Limb Defects Syndrome 1

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Genes for Vertebral, Cardiac, Renal, and Limb Defects Syndrome 1

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

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	HAAO	3-Hydroxyanthranilate 3,4-Dioxygenase	Protein Coding	928.52	Molecular basis known ⁵⁸ Pathogenic ⁶ GeneCards inferred via : Disorders Variants (show sections)	28792876
2	MTA3	Metastasis Associated 1 Family Member 3	Protein Coding	18.58	GeneCards inferred via : Variants (show sections)

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Variations for Vertebral, Cardiac, Renal, and Limb Defects Syndrome 1

ClinVar genetic disease variations for Vertebral, Cardiac, Renal, and Limb Defects Syndrome 1:

⁶

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	HAAO	NM_012205.2(HAAO): c.558G> A (p.Trp186Ter)	single nucleotide variant	Pathogenic	rs1135401743	GRCh37	Chromosome 2, 42996925: 42996925
2	HAAO	NM_012205.2(HAAO): c.558G> A (p.Trp186Ter)	single nucleotide variant	Pathogenic	rs1135401743	GRCh38	Chromosome 2, 42769785: 42769785
3	HAAO	NM_012205.2(HAAO): c.483dupT (p.Asp162Terfs)	duplication	Pathogenic	rs527656756	GRCh37	Chromosome 2, 42997284: 42997284
4	HAAO	NM_012205.2(HAAO): c.483dupT (p.Asp162Terfs)	duplication	Pathogenic	rs527656756	GRCh38	Chromosome 2, 42770144: 42770144

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Expression for Vertebral, Cardiac, Renal, and Limb Defects Syndrome 1

Search GEO for disease gene expression data for Vertebral, Cardiac, Renal, and Limb Defects Syndrome 1.

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Pathways for Vertebral, Cardiac, Renal, and Limb Defects Syndrome 1

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GO Terms for Vertebral, Cardiac, Renal, and Limb Defects Syndrome 1

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Sources for Vertebral, Cardiac, Renal, and Limb Defects Syndrome 1

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⁷² TGDB

⁷³ Tocris

⁷⁴ UMLS

⁷⁵ UMLS via Orphanet

⁷⁶ UniProtKB/Swiss-Prot

⁷⁷ Wikipedia

Vertebral, Cardiac, Renal, and Limb Defects Syndrome 1 (VCRL1)

Aliases & Classifications for Vertebral, Cardiac, Renal, and Limb Defects Syndrome 1

MalaCards integrated aliases for Vertebral, Cardiac, Renal, and Limb Defects Syndrome 1:

Characteristics:

OMIM:

Classifications:

External Ids:

Summaries for Vertebral, Cardiac, Renal, and Limb Defects Syndrome 1

Related Diseases for Vertebral, Cardiac, Renal, and Limb Defects Syndrome 1

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

Diseases related to Vertebral, Cardiac, Renal, and Limb Defects Syndrome 1 via text searches within MalaCards or GeneCards Suite gene sharing:

Symptoms & Phenotypes for Vertebral, Cardiac, Renal, and Limb Defects Syndrome 1

Human phenotypes related to Vertebral, Cardiac, Renal, and Limb Defects Syndrome 1:

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

Drugs & Therapeutics for Vertebral, Cardiac, Renal, and Limb Defects Syndrome 1

Genetic Tests for Vertebral, Cardiac, Renal, and Limb Defects Syndrome 1

Anatomical Context for Vertebral, Cardiac, Renal, and Limb Defects Syndrome 1

MalaCards organs/tissues related to Vertebral, Cardiac, Renal, and Limb Defects Syndrome 1:

Publications for Vertebral, Cardiac, Renal, and Limb Defects Syndrome 1

Genes for Vertebral, Cardiac, Renal, and Limb Defects Syndrome 1

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

Variations for Vertebral, Cardiac, Renal, and Limb Defects Syndrome 1

ClinVar genetic disease variations for Vertebral, Cardiac, Renal, and Limb Defects Syndrome 1:

Expression for Vertebral, Cardiac, Renal, and Limb Defects Syndrome 1

Pathways for Vertebral, Cardiac, Renal, and Limb Defects Syndrome 1

GO Terms for Vertebral, Cardiac, Renal, and Limb Defects Syndrome 1

Sources for Vertebral, Cardiac, Renal, and Limb Defects Syndrome 1