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 ⁷⁴ ⁶

Congenital Nad Deficiency Disorder 1 ⁵⁷ ⁷⁴

3-Hydroxyanthranilic Acidemia ⁵⁷ ⁷⁴

Vcrl1 ⁵⁷ ⁷⁴

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

HPO:

³²

vertebral, cardiac, renal, and limb defects syndrome 1:
Inheritance autosomal recessive inheritance

Classifications:

MalaCards categories:
Global: Genetic diseases
Anatomical: Nephrological diseases

See all MalaCards categories (disease lists)

External Ids:

OMIM ⁵⁷ 617660

MeSH ⁴⁴ D000015

MedGen ⁴² C4540004 CN482173

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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 heart and kidney, and related phenotypes are intellectual disability and global developmental delay

UniProtKB/Swiss-Prot : ⁷⁴ 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	11.3

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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:

³² (show all 21)

#	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	laryngotracheomalacia ³²	very rare (1%)	HP:0008755
4	laryngeal web ³²	very rare (1%)	HP:0005950
5	microcephaly ³²		HP:0000252
6	sensorineural hearing impairment ³²		HP:0000407
7	short stature ³²		HP:0004322
8	cleft palate ³²		HP:0000175
9	atrial septal defect ³²		HP:0001631
10	hypoplastic left heart ³²		HP:0004383
11	vesicoureteral reflux ³²		HP:0000076
12	talipes ³²		HP:0001883
13	renal hypoplasia ³²		HP:0000089
14	tethered cord ³²		HP:0002144
15	butterfly vertebrae ³²		HP:0003316
16	bifid uvula ³²		HP:0000193
17	spinal dysraphism ³²		HP:0010301
18	aortic valve stenosis ³²		HP:0001650
19	mitral stenosis ³²		HP:0001718
20	absence of the sacrum ³²		HP:0010305
21	hypoplastic sacrum ³²		HP:0004590

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

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 Feet:
talipes

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:

⁴¹

Heart, Kidney

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

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

#	Title	Authors	PMID	Year
1	NAD Deficiency, Congenital Malformations, and Niacin Supplementation. ⁸ ⁷¹	Shi H...Dunwoodie SL	28792876	2017
2	Blood system formation in the urochordate Ciona intestinalis requires the variable receptor vCRL1. ³⁸	Sommer F...Khalturin K	22513285	2012
3	Allorecognition in urochordates: identification of a highly variable complement receptor-like protein expressed in follicle cells of Ciona. ³⁸	Kurn U...Khalturin K	17074389	2007

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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	928.44	Molecular basis known ⁵⁷ Pathogenic ⁶ GeneCards inferred via : Disorders Variants (show sections)	28792876
2	MTA3	Metastasis Associated 1 Family Member 3	Protein Coding	18.51	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	GRCh37 Pos	GRCh38 Pos
1	HAAO	NM_012205.3(HAAO): c.558G> A (p.Trp186Ter)	single nucleotide variant	Pathogenic	rs1135401743	2:42996925-42996925	2:42769785-42769785
2	HAAO	NM_012205.3(HAAO): c.483dup (p.Asp162Ter)	duplication	Pathogenic	rs527656756	2:42997284-42997284	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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⁷² UMLS

⁷³ UMLS via Orphanet

⁷⁴ UniProtKB/Swiss-Prot

⁷⁵ 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:

HPO:

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

Articles related to 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