VCRL1
MCID: VRT014
MIFTS: 20

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 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:



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.

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

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

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:

41
Kidney, Heart

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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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