VCRL1
MCID: VRT014
MIFTS: 19

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

Categories: Genetic diseases, Nephrological diseases

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:



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.

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

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

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

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:

42
Kidney

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

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

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.

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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