VCRL2
MCID: VRT015
MIFTS: 17

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 58 76 6
Vcrl2 58 76
Congenital Nad Deficiency Disorder 2 58
Kynureninase Deficiency, Complete 58

Characteristics:

OMIM:

58
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


Classifications:



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

OMIM : 58 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)

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 related phenotypes are frontal bossing and microcephaly

UniProtKB/Swiss-Prot : 76 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

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

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

33 (show all 7)
# Description HPO Frequency HPO Source Accession
1 frontal bossing 33 HP:0002007
2 microcephaly 33 HP:0000252
3 patent ductus arteriosus 33 HP:0001643
4 hypoplastic left heart 33 HP:0004383
5 renal hypoplasia 33 HP:0000089
6 hemivertebrae 33 HP:0002937
7 chronic kidney disease 33 HP:0012622

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Ears:
low-set ears

Growth Height:
short stature

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

Skeletal Feet:
talipes

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)

Head And Neck Head:
frontal bossing
microcephaly

Chest External Features:
narrow chest

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

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

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

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

42
Kidney

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

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

# Title Authors Year
1
NAD Deficiency, Congenital Malformations, and Niacin Supplementation. ( 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 Variation Type Significance SNP ID Assembly Location
1 KYNU NM_003937.2(KYNU): c.170-1G> T single nucleotide variant Pathogenic rs1135401744 GRCh37 Chromosome 2, 143676177: 143676177
2 KYNU NM_003937.2(KYNU): c.170-1G> T single nucleotide variant Pathogenic rs1135401744 GRCh38 Chromosome 2, 142918608: 142918608
3 KYNU NM_003937.2(KYNU): c.468T> A (p.Tyr156Ter) single nucleotide variant Pathogenic/Likely pathogenic rs758865880 GRCh38 Chromosome 2, 142956235: 142956235
4 KYNU NM_003937.2(KYNU): c.468T> A (p.Tyr156Ter) single nucleotide variant Pathogenic/Likely pathogenic rs758865880 GRCh37 Chromosome 2, 143713804: 143713804
5 KYNU NM_003937.2(KYNU): c.1045_1051delTTTAAGC (p.Phe349Lysfs) deletion Pathogenic rs770642379 GRCh37 Chromosome 2, 143798000: 143798006
6 KYNU NM_003937.2(KYNU): c.1045_1051delTTTAAGC (p.Phe349Lysfs) deletion Pathogenic rs770642379 GRCh38 Chromosome 2, 143040431: 143040437

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
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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