VCRL1
MCID: VRT014
MIFTS: 21

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 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:



External Ids:

OMIM 57 617660
MeSH 44 D000015

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.

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

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

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
Heart, Kidney

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
28792876 2017
2
Blood system formation in the urochordate Ciona intestinalis requires the variable receptor vCRL1. 38
22513285 2012
3
Allorecognition in urochordates: identification of a highly variable complement receptor-like protein expressed in follicle cells of Ciona. 38
17074389 2007

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

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
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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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