VCTERL
MCID: VRT019
MIFTS: 16

Vertebral, Cardiac, Tracheoesophageal, Renal, and Limb Defects (VCTERL)

Categories: Genetic diseases, Nephrological diseases

Aliases & Classifications for Vertebral, Cardiac, Tracheoesophageal, Renal, and Limb Defects

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

Name: Vertebral, Cardiac, Tracheoesophageal, Renal, and Limb Defects 57 6
Vcterl Syndrome 57
Vcterl 57

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Miscellaneous:
incomplete penetrance
markedly variable expressivity, including intrafamilial variability

Inheritance:
autosomal dominant


Classifications:



External Ids:

OMIM® 57 619227

Summaries for Vertebral, Cardiac, Tracheoesophageal, Renal, and Limb Defects

OMIM® : 57 VCTERL syndrome is characterized by anomalies of the vertebrae, heart, trachea, esophagus, kidneys, and limbs. Some patients also exhibit craniofacial abnormalities. Incomplete penetrance and markedly variable disease expression have been observed, including intrafamilial variability (Martin et al., 2020). (619227) (Updated 05-Apr-2021)

MalaCards based summary : Vertebral, Cardiac, Tracheoesophageal, Renal, and Limb Defects, is also known as vcterl syndrome. An important gene associated with Vertebral, Cardiac, Tracheoesophageal, Renal, and Limb Defects is WBP11 (WW Domain Binding Protein 11). Affiliated tissues include trachea and kidney.

Related Diseases for Vertebral, Cardiac, Tracheoesophageal, Renal, and Limb Defects

Symptoms & Phenotypes for Vertebral, Cardiac, Tracheoesophageal, Renal, and Limb Defects

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Neurologic Central Nervous System:
agenesis of corpus callosum
intellectual disability, mild
ventriculomegaly
developmental delay

Head And Neck Neck:
short neck
webbed neck

Head And Neck Head:
microcephaly
low posterior hairline

Growth Height:
short stature

Head And Neck Face:
retrognathia
facial asymmetry
broad forehead

Skin Nails Hair Nails:
hypoplastic toenails

Cardiovascular Heart:
atrial septal defect
bicuspid aortic valve
ventricular septal defect
anomalous pulmonary venous return
patent foramen ovale
more
Cardiovascular Vascular:
interrupted aortic arch
vascular ring
abnormal subclavian artery morphology

Abdomen Gastrointestinal:
tracheoesophageal fistula
esophageal atresia
duodenal atresia

Growth Weight:
decreased body weight

Skeletal Hands:
camptodactyly
fifth-finger clinodactyly
tapered fingers
thumb hypoplasia
radial ray deficiency

Chest Ribs Sternum Clavicles And Scapulae:
sprengel deformity
abnormality of right-sided ribs

Head And Neck Eyes:
deeply set eyes

Skeletal Spine:
scoliosis
variable fusions of cervical vertebrae
variable thoracic butterfly vertebrae
bilateral omovertebral bones (at c5)
spina bifida occulta (at c5)
more
Genitourinary External Genitalia Male:
inguinal hernia

Skeletal Skull:
microcephaly

Genitourinary Internal Genitalia Male:
cryptorchidism

Head And Neck Ears:
low-set ears
preauricular pit
anteverted ears
dysplastic ears
preauricular skin tags

Chest External Features:
pectus excavatum

Respiratory Nasopharynx:
choanal atresia

Respiratory Airways:
tracheoesophageal fistula

Genitourinary Kidneys:
pelvic kidney
enlarged kidney
renal agenesis
small kidney

Head And Neck Nose:
wide nose

Head And Neck Mouth:
velopharyngeal insufficiency
submucous cleft palate

Neurologic Behavioral Psychiatric Manifestations:
attention-deficit/hyperactivity disorder

Skeletal Feet:
deviation of toes

Clinical features from OMIM®:

619227 (Updated 05-Apr-2021)

Drugs & Therapeutics for Vertebral, Cardiac, Tracheoesophageal, Renal, and Limb Defects

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

Genetic Tests for Vertebral, Cardiac, Tracheoesophageal, Renal, and Limb Defects

Anatomical Context for Vertebral, Cardiac, Tracheoesophageal, Renal, and Limb Defects

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

40
Trachea, Kidney

Publications for Vertebral, Cardiac, Tracheoesophageal, Renal, and Limb Defects

Articles related to Vertebral, Cardiac, Tracheoesophageal, Renal, and Limb Defects:

# Title Authors PMID Year
1
Heterozygous loss of WBP11 function causes multiple congenital defects in humans and mice. 57 6
33276377 2020

Variations for Vertebral, Cardiac, Tracheoesophageal, Renal, and Limb Defects

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

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 WBP11 , C12orf60 NM_016312.3(WBP11):c.688C>T (p.Arg230Ter) SNV Pathogenic 917485 GRCh37: 12:14947504-14947504
GRCh38: 12:14794570-14794570
2 WBP11 , C12orf60 NM_016312.3(WBP11):c.612del (p.Gly205fs) Deletion Pathogenic 917486 GRCh37: 12:14947580-14947580
GRCh38: 12:14794646-14794646
3 WBP11 , C12orf60 NM_016312.3(WBP11):c.280C>T (p.Arg94Ter) SNV Pathogenic 917482 GRCh37: 12:14949848-14949848
GRCh38: 12:14796914-14796914

Expression for Vertebral, Cardiac, Tracheoesophageal, Renal, and Limb Defects

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

Pathways for Vertebral, Cardiac, Tracheoesophageal, Renal, and Limb Defects

GO Terms for Vertebral, Cardiac, Tracheoesophageal, Renal, and Limb Defects

Sources for Vertebral, Cardiac, Tracheoesophageal, Renal, and Limb Defects

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 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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