MCID: VRT015
MIFTS: 16

Vertebral, Cardiac, Renal, and Limb Defects Syndrome 2

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 75 6
Vcrl2 57 75
Congenital Nad Deficiency Disorder 2 57
Kynureninase Deficiency, Complete 57

Characteristics:

OMIM:

57
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:



External Ids:

OMIM 57 617661
MeSH 44 D000015

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)

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.

UniProtKB/Swiss-Prot : 75 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

Symptoms via clinical synopsis from OMIM:

57
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:

41
Kidney, Heart

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

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 rs1135401745 GRCh37 Chromosome 2, 143798000: 143798006
6 KYNU NM_003937.2(KYNU): c.1045_1051delTTTAAGC (p.Phe349Lysfs) deletion Pathogenic rs1135401745 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 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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