VCRL1
MCID: VRT014
MIFTS: 22

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 56 73 6
Congenital Nad Deficiency Disorder 1 56 73
3-Hydroxyanthranilic Acidemia 56 73
Vcrl1 56 73

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:



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. 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.

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:

31 (show all 21)
# 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 short stature 31 HP:0004322
6 microcephaly 31 HP:0000252
7 sensorineural hearing impairment 31 HP:0000407
8 cleft palate 31 HP:0000175
9 atrial septal defect 31 HP:0001631
10 hypoplastic left heart 31 HP:0004383
11 vesicoureteral reflux 31 HP:0000076
12 mitral stenosis 31 HP:0001718
13 talipes 31 HP:0001883
14 renal hypoplasia 31 HP:0000089
15 tethered cord 31 HP:0002144
16 butterfly vertebrae 31 HP:0003316
17 bifid uvula 31 HP:0000193
18 spinal dysraphism 31 HP:0010301
19 aortic valve stenosis 31 HP:0001650
20 absence of the sacrum 31 HP:0010305
21 hypoplastic sacrum 31 HP:0004590

Symptoms via clinical synopsis from OMIM:

56
Growth Height:
short stature

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

Head And Neck Head:
microcephaly

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:

40
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. 56 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 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>ASNV Likely pathogenic 804383 2:43010923-43010923 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
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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