VCRL1
MCID: VRT014
MIFTS: 24

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 72 29 6
Congenital Nad Deficiency Disorder 1 57 72
3-Hydroxyanthranilic Acidemia 57 72
Vcrl1 57 72
Vertebral, Cardiac, Renal, and Limb Defects Syndrome, Type 1 39

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
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:



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) (Updated 20-May-2021)

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 related phenotypes are intellectual disability and global developmental delay

UniProtKB/Swiss-Prot : 72 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 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 10.9
2 vertebral, cardiac, renal, and limb defects syndrome 3 10.9
3 congenital vertebral-cardiac-renal anomalies syndrome 9.5 MTA3 HAAO

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®:

57 (Updated 20-May-2021)
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 (Updated 20-May-2021)

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

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

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

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. 57 6
28792876 2017
2
Blood system formation in the urochordate Ciona intestinalis requires the variable receptor vCRL1. 61
22513285 2012
3
Allorecognition in urochordates: identification of a highly variable complement receptor-like protein expressed in follicle cells of Ciona. 61
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 Name Type Significance ClinVarId dbSNP ID Position
1 HAAO , MTA3 NM_012205.3(HAAO):c.483dup (p.Asp162Ter) Duplication Pathogenic 403727 rs527656756 GRCh37: 2:42997283-42997284
GRCh38: 2:42770144-42770144
2 HAAO , MTA3 NM_012205.3(HAAO):c.558G>A (p.Trp186Ter) SNV Pathogenic 403728 rs1135401743 GRCh37: 2:42996925-42996925
GRCh38: 2:42769785-42769785
3 HAAO , MTA3 NM_012205.3(HAAO):c.243+1G>A SNV Likely pathogenic 804383 rs1232096291 GRCh37: 2:43010923-43010923
GRCh38: 2:42783783-42783783

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
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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