VCRL2
MCID: VRT015
MIFTS: 20

Vertebral, Cardiac, Renal, and Limb Defects Syndrome 2 (VCRL2)

Categories: Genetic diseases, Nephrological diseases

Aliases & Classifications for Vertebral, Cardiac, Renal, and Limb Defects Syndrome 2

MalaCards integrated aliases for Vertebral, Cardiac, Renal, and Limb Defects Syndrome 2:

Name: Vertebral, Cardiac, Renal, and Limb Defects Syndrome 2 57 72 29 6
Vcrl2 57 72
Vertebral, Cardiac, Renal, and Limb Defects Syndrome, Type 2 39
Congenital Nad Deficiency Disorder 2 57
Kynureninase Deficiency, Complete 57

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive

Miscellaneous:
slightly variable phenotype
two unrelated patients (one of lebanese descent and one united states) have been reported (last curated september 2017)
one patient died before age 6 months


HPO:

31
vertebral, cardiac, renal, and limb defects syndrome 2:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Vertebral, Cardiac, Renal, and Limb Defects Syndrome 2

OMIM® : 57 VCRL2 is an autosomal recessive congenital malformation syndrome characterized by vertebral segmentation abnormalities, congenital cardiac defects, renal, and distal mild limb defects. Additional features are variable (summary by Shi et al., 2017). For a discussion of genetic heterogeneity of VCRL, see VCRL1 (617660). (617661) (Updated 20-May-2021)

MalaCards based summary : Vertebral, Cardiac, Renal, and Limb Defects Syndrome 2, is also known as vcrl2. An important gene associated with Vertebral, Cardiac, Renal, and Limb Defects Syndrome 2 is KYNU (Kynureninase). Affiliated tissues include kidney and heart, and related phenotypes are delayed speech and language development and frontal bossing

UniProtKB/Swiss-Prot : 72 Vertebral, cardiac, renal, and limb defects syndrome 2: 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 2

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

Symptoms & Phenotypes for Vertebral, Cardiac, Renal, and Limb Defects Syndrome 2

Human phenotypes related to Vertebral, Cardiac, Renal, and Limb Defects Syndrome 2:

31 (show all 13)
# Description HPO Frequency HPO Source Accession
1 delayed speech and language development 31 very rare (1%) HP:0000750
2 frontal bossing 31 HP:0002007
3 depressed nasal bridge 31 HP:0005280
4 microcephaly 31 HP:0000252
5 low-set ears 31 HP:0000369
6 hypoplastic left heart 31 HP:0004383
7 patent ductus arteriosus 31 HP:0001643
8 talipes 31 HP:0001883
9 hemivertebrae 31 HP:0002937
10 renal hypoplasia 31 HP:0000089
11 narrow chest 31 HP:0000774
12 rhizomelia 31 HP:0008905
13 chronic kidney disease 31 HP:0012622

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Head And Neck Head:
frontal bossing
microcephaly

Head And Neck Ears:
low-set ears

Skeletal Feet:
talipes

Chest External Features:
narrow chest

Skeletal Limbs:
rhizomelic shortening

Neurologic Central Nervous System:
speech delay (1 patient)

Laboratory Abnormalities:
increased serum levels of 3-hydroxykynurenine (3hk)
decreased serum levels of nicotinamide adenine dinucleotide (nad) and nad(h)

Growth Height:
short stature

Cardiovascular Heart:
hypoplastic left heart
patent ductus arteriosus
congenital cardiac defects

Skeletal Spine:
hemivertebrae
vertebral segmentation defects

Genitourinary Kidneys:
chronic kidney disease
hypoplastic kidneys
solitary kidney

Head And Neck Nose:
flat nasal bridge

Chest Ribs Sternum Clavicles And Scapulae:
irregular ribs

Clinical features from OMIM®:

617661 (Updated 20-May-2021)

Drugs & Therapeutics for Vertebral, Cardiac, Renal, and Limb Defects Syndrome 2

Search Clinical Trials , NIH Clinical Center for Vertebral, Cardiac, Renal, and Limb Defects Syndrome 2

Genetic Tests for Vertebral, Cardiac, Renal, and Limb Defects Syndrome 2

Genetic tests related to Vertebral, Cardiac, Renal, and Limb Defects Syndrome 2:

# Genetic test Affiliating Genes
1 Vertebral, Cardiac, Renal, and Limb Defects Syndrome 2 29 KYNU

Anatomical Context for Vertebral, Cardiac, Renal, and Limb Defects Syndrome 2

MalaCards organs/tissues related to Vertebral, Cardiac, Renal, and Limb Defects Syndrome 2:

40
Kidney, Heart

Publications for Vertebral, Cardiac, Renal, and Limb Defects Syndrome 2

Articles related to Vertebral, Cardiac, Renal, and Limb Defects Syndrome 2:

# Title Authors PMID Year
1
NAD Deficiency, Congenital Malformations, and Niacin Supplementation. 57 6
28792876 2017

Variations for Vertebral, Cardiac, Renal, and Limb Defects Syndrome 2

ClinVar genetic disease variations for Vertebral, Cardiac, Renal, and Limb Defects Syndrome 2:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 KYNU NM_003937.3(KYNU):c.170-1G>T SNV Pathogenic 403729 rs1135401744 GRCh37: 2:143676177-143676177
GRCh38: 2:142918608-142918608
2 KYNU NM_003937.3(KYNU):c.468T>A (p.Tyr156Ter) SNV Pathogenic 403730 rs758865880 GRCh37: 2:143713804-143713804
GRCh38: 2:142956235-142956235
3 KYNU NM_003937.3(KYNU):c.1045_1051del (p.Phe349fs) Deletion Pathogenic 403731 rs770642379 GRCh37: 2:143797999-143798005
GRCh38: 2:143040430-143040436

Expression for Vertebral, Cardiac, Renal, and Limb Defects Syndrome 2

Search GEO for disease gene expression data for Vertebral, Cardiac, Renal, and Limb Defects Syndrome 2.

Pathways for Vertebral, Cardiac, Renal, and Limb Defects Syndrome 2

GO Terms for Vertebral, Cardiac, Renal, and Limb Defects Syndrome 2

Sources for Vertebral, Cardiac, Renal, and Limb Defects Syndrome 2

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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