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 ⁵⁶ ⁷³ ²⁹ ⁶

Congenital Nad Deficiency Disorder 1 ⁵⁶ ⁷³

3-Hydroxyanthranilic Acidemia ⁵⁶ ⁷³

Vcrl1 ⁵⁶ ⁷³

Vertebral, Cardiac, Renal, and Limb Defects Syndrome, Type 1 ³⁹

Characteristics:

OMIM:

⁵⁶

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:

³¹

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 ⁵⁶ 617660

OMIM Phenotypic Series ⁵⁶ PS617660

MeSH ⁴³ D000015

MedGen ⁴¹ C4540004 CN482173

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

OMIM : ⁵⁶ 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 and vertebral, cardiac, renal, and limb defects syndrome 3. 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 : ⁷³ 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

Vertebral, Cardiac, Renal, and Limb Defects Syndrome 3

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	11.2
2	vertebral, cardiac, renal, and limb defects syndrome 3	11.2

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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:

³¹ (show all 20)

#	Description	HPO Frequency	HPO Source Accession
1	intellectual disability ³¹	very rare (1%)	HP:0001249
2	global developmental delay ³¹	very rare (1%)	HP:0001263
3	laryngotracheomalacia ³¹	very rare (1%)	HP:0008755
4	laryngeal web ³¹	very rare (1%)	HP:0005950
5	microcephaly ³¹		HP:0000252
6	sensorineural hearing impairment ³¹		HP:0000407
7	short stature ³¹		HP:0004322
8	atrial septal defect ³¹		HP:0001631
9	hypoplastic left heart ³¹		HP:0004383
10	vesicoureteral reflux ³¹		HP:0000076
11	talipes ³¹		HP:0001883
12	renal hypoplasia ³¹		HP:0000089
13	tethered cord ³¹		HP:0002144
14	butterfly vertebrae ³¹		HP:0003316
15	spinal dysraphism ³¹		HP:0010301
16	bifid uvula ³¹		HP:0000193
17	mitral stenosis ³¹		HP:0001718
18	aortic valve stenosis ³¹		HP:0001650
19	absence of the sacrum ³¹		HP:0010305
20	hypoplastic sacrum ³¹		HP:0004590

Symptoms via clinical synopsis from OMIM:

⁵⁶

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

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

#	Genetic test	Affiliating Genes
1	Vertebral, Cardiac, Renal, and Limb Defects Syndrome 1 ²⁹	HAAO

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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:

⁴⁰

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. ⁵⁶ ⁶	Shi H...Dunwoodie SL	28792876	2017
2	Blood system formation in the urochordate Ciona intestinalis requires the variable receptor vCRL1. ⁶¹	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. ⁶¹	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	1018.37	Molecular basis known ⁵⁶ Pathogenic ⁶ Genetic Tests ²⁹ GeneCards inferred via : Disorders Variants (show sections)	28792876
2	MTA3	Metastasis Associated 1 Family Member 3	Protein Coding	8.56	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	Name	Type	Significance	ClinVarId	dbSNP ID	GRCh37 Pos	GRCh38 Pos
1	HAAO	NM_012205.3(HAAO):c.558G>A (p.Trp186Ter)	SNV	Pathogenic	403728	rs1135401743	2:42996925-42996925	2:42769785-42769785
2	HAAO	NM_012205.3(HAAO):c.483dup (p.Asp162Ter)	duplication	Pathogenic	403727	rs527656756	2:42997283-42997284	2:42770144-42770144
3	HAAO , MTA3	NM_012205.3(HAAO):c.243+1G>A	SNV	Likely pathogenic	804383		2:43010923-43010923	2:42783783-42783783

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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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³⁵ IUPHAR

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⁴¹ MedGen

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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 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

Genetic tests related to 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