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 ⁵⁷ ⁷⁵ ⁶

Congenital Nad Deficiency Disorder 1 ⁵⁷ ⁷⁵

3-Hydroxyanthranilic Acidemia ⁵⁷ ⁷⁵

Vcrl1 ⁵⁷ ⁷⁵

Characteristics:

OMIM:

⁵⁷

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 ⁵⁷ 617660

MedGen ⁴² C4540004 CN482173

MeSH ⁴⁴ D000015

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

OMIM : ⁵⁷ 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 heart, and related phenotypes are intellectual disability and global developmental delay

UniProtKB/Swiss-Prot : ⁷⁵ 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

Symptoms via clinical synopsis from OMIM:

⁵⁷

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
vertebral segmentation defects
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

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

³² (show all 15)

#	Description	HPO Frequency	HPO Source Accession
1	intellectual disability ³²	very rare (1%)	HP:0001249
2	global developmental delay ³²	very rare (1%)	HP:0001263
3	cleft palate ³²		HP:0000175
4	atrial septal defect ³²		HP:0001631
5	hypoplastic left heart ³²		HP:0004383
6	butterfly vertebrae ³²		HP:0003316
7	bifid uvula ³²		HP:0000193
8	spinal dysraphism ³²		HP:0010301
9	aortic valve stenosis ³²		HP:0001650
10	mitral stenosis ³²		HP:0001718
11	absence of the sacrum ³²		HP:0010305
12	laryngotracheomalacia ³²	very rare (1%)	HP:0008755
13	laryngeal web ³²	very rare (1%)	HP:0005950
14	tethered cord ³²		HP:0002144
15	hypoplastic sacrum ³²		HP:0004590

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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:

⁴¹

Kidney, Heart

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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 ⁵⁷ 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

¹ BioSystems

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⁷¹ TGDB

⁷² Tocris

⁷³ UMLS

⁷⁴ UMLS via Orphanet

⁷⁵ UniProtKB/Swiss-Prot

⁷⁶ 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

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

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

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