VETD
MCID: VRT016
MIFTS: 33

Vertebral Anomalies and Variable Endocrine and T-Cell Dysfunction (VETD)

Categories: Bone diseases, Endocrine diseases, Genetic diseases, Immune diseases

Aliases & Classifications for Vertebral Anomalies and Variable Endocrine and T-Cell...

MalaCards integrated aliases for Vertebral Anomalies and Variable Endocrine and T-Cell Dysfunction:

Name: Vertebral Anomalies and Variable Endocrine and T-Cell Dysfunction 57 12 72 6 15
Vetd 57 72
Heterozygotes for Tbx2 Variants 12

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant

Miscellaneous:
variable features may be present


HPO:

31
vertebral anomalies and variable endocrine and t-cell dysfunction:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Vertebral Anomalies and Variable Endocrine and T-Cell...

OMIM® : 57 Vertebral anomalies and variable endocrine and T-cell dysfunction is a syndrome characterized by an overlapping spectrum of features. Skeletal malformations primarily involve the vertebrae, and endocrine abnormalities involving parathyroid hormone (PTH; 168450), growth hormone (GH1; 139250), and the thyroid gland have been reported. T-cell abnormalities have been observed, with some patients showing thymus gland aplasia or hypoplasia. Patients have mild craniofacial dysmorphism, and some show developmental delay or behavioral problems. Cardiac defects may be present (Liu et al., 2018). (618223) (Updated 05-Apr-2021)

MalaCards based summary : Vertebral Anomalies and Variable Endocrine and T-Cell Dysfunction, also known as vetd, is related to ulnar-mammary syndrome and holt-oram syndrome. An important gene associated with Vertebral Anomalies and Variable Endocrine and T-Cell Dysfunction is TBX2 (T-Box Transcription Factor 2), and among its related pathways/superpathways is Heart Development. The drug Thalidomide has been mentioned in the context of this disorder. Affiliated tissues include thymus, t cells and b cells, and related phenotypes are scoliosis and kyphosis

Disease Ontology : 12 A syndrome that has material basis in heterozygous mutation in the TBX2 gene on chromosome 17q23 and is characterized by craniofacial dysmorphisms, cardiac anomalies, skeletal malformations, immune deficiency, endocrine abnormalities and developmental impairments.

UniProtKB/Swiss-Prot : 72 Vertebral anomalies and variable endocrine and T-cell dysfunction: An autosomal dominant syndrome characterized by skeletal malformations primarily involving the vertebrae, immunodeficiency, endocrine abnormalities such as hypoparathyroidism and growth hormone deficiency, craniofacial dysmorphism, congenital cardiac anomalies consisting of double-outlet right ventricle, pulmonary valve stenosis and atrial septal defect, and developmental impairments.

Related Diseases for Vertebral Anomalies and Variable Endocrine and T-Cell...

Diseases related to Vertebral Anomalies and Variable Endocrine and T-Cell Dysfunction via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 13)
# Related Disease Score Top Affiliating Genes
1 ulnar-mammary syndrome 9.8 TBX2 TBX1
2 holt-oram syndrome 9.8 TBX2 TBX1
3 heart septal defect 9.8 TBX2 TBX1
4 atrioventricular septal defect 9.8 TBX2 TBX1
5 hypoplastic left heart syndrome 9.8 TBX2 TBX1
6 double outlet right ventricle 9.7 TBX2 TBX1
7 inguinal hernia 9.7 TBX2 TBX1
8 atrial heart septal defect 9.7 TBX2 TBX1
9 velocardiofacial syndrome 9.7 TBX2 TBX1
10 patent foramen ovale 9.7 TBX2 TBX1
11 digeorge syndrome 9.6 TBX2 TBX1
12 aortic valve disease 1 9.6 TBX2 TBX1
13 tetralogy of fallot 9.5 TBX2 TBX1

Graphical network of the top 20 diseases related to Vertebral Anomalies and Variable Endocrine and T-Cell Dysfunction:



Diseases related to Vertebral Anomalies and Variable Endocrine and T-Cell Dysfunction

Symptoms & Phenotypes for Vertebral Anomalies and Variable Endocrine and T-Cell...

Human phenotypes related to Vertebral Anomalies and Variable Endocrine and T-Cell Dysfunction:

31 (show all 33)
# Description HPO Frequency HPO Source Accession
1 scoliosis 31 HP:0002650
2 kyphosis 31 HP:0002808
3 short neck 31 HP:0000470
4 global developmental delay 31 HP:0001263
5 depressed nasal bridge 31 HP:0005280
6 narrow palate 31 HP:0000189
7 hypertelorism 31 HP:0000316
8 short stature 31 HP:0004322
9 brachycephaly 31 HP:0000248
10 cleft palate 31 HP:0000175
11 low-set ears 31 HP:0000369
12 webbed neck 31 HP:0000465
13 hashimoto thyroiditis 31 HP:0000872
14 epicanthus 31 HP:0000286
15 atrial septal defect 31 HP:0001631
16 sprengel anomaly 31 HP:0000912
17 overfolded helix 31 HP:0000396
18 patent ductus arteriosus 31 HP:0001643
19 hemivertebrae 31 HP:0002937
20 low anterior hairline 31 HP:0000294
21 hypoparathyroidism 31 HP:0000829
22 pulmonic stenosis 31 HP:0001642
23 triangular face 31 HP:0000325
24 depressed nasal tip 31 HP:0000437
25 ectopia pupillae 31 HP:0009918
26 cupped ear 31 HP:0000378
27 autistic behavior 31 HP:0000729
28 broad nasal tip 31 HP:0000455
29 cleft lip 31 HP:0410030
30 double outlet right ventricle 31 HP:0001719
31 decreased response to growth hormone stimuation test 31 HP:0000824
32 glabellar hemangioma 31 HP:0001076
33 abnormal b cell morphology 31 HP:0002846

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Skeletal Spine:
scoliosis
kyphosis
klippel-feil anomaly (fusion c2-c4)
congenital fusions of thoracic spine
open laminae posteriorly
more
Head And Neck Nose:
depressed nasal bridge
depressed nasal tip
broad nasal tip

Growth Height:
short stature

Head And Neck Mouth:
cleft palate
cleft lip
high-arched narrow palate

Endocrine Features:
hashimoto thyroiditis
hypoparathyroidism
growth hormone deficiency
borderline low parathyroid hormone (pth)

Cardiovascular Vascular:
patent ductus arteriosus

Chest Ribs Sternum Clavicles And Scapulae:
sprengel deformity
fusion of 4th and 5th ribs

Neurologic Behavioral Psychiatric Manifestations:
autistic behaviors

Immunology:
thymus aplasia or hypoplasia
low or no functional t cells
abnormal b cells
very low naive t cells (cd4 and cd8)

Head And Neck Neck:
short neck
webbed neck

Head And Neck Eyes:
hypertelorism
epicanthal folds
corectopia

Head And Neck Head:
brachycephaly

Head And Neck Ears:
low-set ears
cupped ears
overfolded helices

Cardiovascular Heart:
atrial septal defect
pulmonary valve stenosis
double-outlet right ventricle

Head And Neck Face:
low anterior hairline
triangular face
glabellar hemangioma

Neurologic Central Nervous System:
developmental delay, mild
attention-deficit hyperactivity disorder (adhd)

Skeletal Hands:
camptodactyly 3rd and 4th digits

Clinical features from OMIM®:

618223 (Updated 05-Apr-2021)

Drugs & Therapeutics for Vertebral Anomalies and Variable Endocrine and T-Cell...

Drugs for Vertebral Anomalies and Variable Endocrine and T-Cell Dysfunction (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Thalidomide Approved, Investigational, Withdrawn 50-35-1 5426

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Preventive Treatment of VETD in Patients With Multiple Myeloma Receiving Chemotherapy With Thalidomide or Lenalinomide Completed NCT01268774

Search NIH Clinical Center for Vertebral Anomalies and Variable Endocrine and T-Cell Dysfunction

Genetic Tests for Vertebral Anomalies and Variable Endocrine and T-Cell...

Anatomical Context for Vertebral Anomalies and Variable Endocrine and T-Cell...

MalaCards organs/tissues related to Vertebral Anomalies and Variable Endocrine and T-Cell Dysfunction:

40
Thymus, T Cells, B Cells, Small Intestine

Publications for Vertebral Anomalies and Variable Endocrine and T-Cell...

Articles related to Vertebral Anomalies and Variable Endocrine and T-Cell Dysfunction:

# Title Authors PMID Year
1
Functional variants in TBX2 are associated with a syndromic cardiovascular and skeletal developmental disorder. 57 6
29726930 2018
2
Cost-utility analysis of the screening program for early oral cancer detection in Thailand. 61
30496214 2018
3
Heterologous expression and functional characterization of phytaspase, a caspase-like plant protease. 61
27867055 2017
4
Protective effect of vitamin E against diabetes-induced oxidized LDL and aorta cell wall proliferation in rat. 61
25864817 2015
5
Effects of vitamin E on pathological changes induced by diabetes in rat lungs. 61
23247385 2013
6
Decreased blood pressure with a corresponding decrease in adhesive molecules in diabetic rats caused by vitamin E administration. 61
22236396 2012
7
Effect of vitamin E on diabetes-induced changes in small intestine and plasma antioxidant capacity in rat. 61
17451158 2006

Variations for Vertebral Anomalies and Variable Endocrine and T-Cell...

ClinVar genetic disease variations for Vertebral Anomalies and Variable Endocrine and T-Cell Dysfunction:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 TBX2 NM_005994.4(TBX2):c.59G>A (p.Arg20Gln) SNV Pathogenic 522826 rs1364709483 GRCh37: 17:59477596-59477596
GRCh38: 17:61400235-61400235
2 TBX2 NM_005994.4(TBX2):c.914G>A (p.Arg305His) SNV Pathogenic 521325 rs1555877071 GRCh37: 17:59481993-59481993
GRCh38: 17:61404632-61404632
3 TBX2 NM_005994.4(TBX2):c.110T>G (p.Phe37Cys) SNV Likely pathogenic 978728 GRCh37: 17:59477647-59477647
GRCh38: 17:61400286-61400286
4 TBX2 NM_005994.4(TBX2):c.1295A>G (p.Lys432Arg) SNV Uncertain significance 1028465 GRCh37: 17:59482806-59482806
GRCh38: 17:61405445-61405445

UniProtKB/Swiss-Prot genetic disease variations for Vertebral Anomalies and Variable Endocrine and T-Cell Dysfunction:

72
# Symbol AA change Variation ID SNP ID
1 TBX2 p.Arg305His VAR_081781 rs155587707

Expression for Vertebral Anomalies and Variable Endocrine and T-Cell...

Search GEO for disease gene expression data for Vertebral Anomalies and Variable Endocrine and T-Cell Dysfunction.

Pathways for Vertebral Anomalies and Variable Endocrine and T-Cell...

Pathways related to Vertebral Anomalies and Variable Endocrine and T-Cell Dysfunction according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.29 TBX2 TBX1

GO Terms for Vertebral Anomalies and Variable Endocrine and T-Cell...

Biological processes related to Vertebral Anomalies and Variable Endocrine and T-Cell Dysfunction according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 positive regulation of cell proliferation GO:0008284 9.37 TBX2 TBX1
2 heart morphogenesis GO:0003007 9.32 TBX2 TBX1
3 outflow tract morphogenesis GO:0003151 9.26 TBX2 TBX1
4 cell fate specification GO:0001708 9.16 TBX2 TBX1
5 outflow tract septum morphogenesis GO:0003148 8.96 TBX2 TBX1
6 aorta morphogenesis GO:0035909 8.62 TBX2 TBX1

Molecular functions related to Vertebral Anomalies and Variable Endocrine and T-Cell Dysfunction according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 DNA-binding transcription factor activity GO:0003700 9.16 TBX2 TBX1
2 sequence-specific double-stranded DNA binding GO:1990837 8.96 TBX2 TBX1
3 sequence-specific DNA binding GO:0043565 8.62 TBX2 TBX1

Sources for Vertebral Anomalies and Variable Endocrine and T-Cell...

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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