VETD
MCID: VRT016
MIFTS: 20

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

Categories: Bone diseases, Endocrine diseases, Genetic 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 58 76 6
Vetd 58 76

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
variable features may be present


Classifications:



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

OMIM : 58 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)

MalaCards based summary : Vertebral Anomalies and Variable Endocrine and T-Cell Dysfunction, is also known as vetd. An important gene associated with Vertebral Anomalies and Variable Endocrine and T-Cell Dysfunction is TBX2 (T-Box 2). Affiliated tissues include t cells, thyroid and thymus, and related phenotypes are hypertelorism and low-set ears

UniProtKB/Swiss-Prot : 76 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...

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

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

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

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
hypertelorism
epicanthal folds
corectopia

Head And Neck Neck:
short neck
webbed neck

Head And Neck Nose:
depressed nasal bridge
broad nasal tip
depressed nasal tip

Head And Neck Head:
brachycephaly

Cardiovascular Vascular:
patent ductus arteriosus

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

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 Ears:
low-set ears
cupped ears
overfolded helices

Skeletal Spine:
scoliosis
kyphosis
klippel-feil anomaly (fusion c2-c4)
congenital fusions of thoracic spine
open laminae posteriorly
more
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)

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

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

Search Clinical Trials , 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:

42
T Cells, Thyroid, Thymus, B Cells

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

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

# Title Authors Year
1
Functional variants in TBX2 are associated with a syndromic cardiovascular and skeletal developmental disorder. ( 29726930 )
2018

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 Variation Type Significance SNP ID Assembly Location
1 TBX2 NM_005994.3(TBX2): c.914G> A (p.Arg305His) single nucleotide variant Uncertain significance rs1555877071 GRCh37 Chromosome 17, 59481993: 59481993
2 TBX2 NM_005994.3(TBX2): c.914G> A (p.Arg305His) single nucleotide variant Uncertain significance rs1555877071 GRCh38 Chromosome 17, 61404632: 61404632
3 TBX2 NM_005994.3(TBX2): c.59G> A (p.Arg20Gln) single nucleotide variant Pathogenic rs1364709483 GRCh37 Chromosome 17, 59477596: 59477596
4 TBX2 NM_005994.3(TBX2): c.59G> A (p.Arg20Gln) single nucleotide variant Pathogenic rs1364709483 GRCh38 Chromosome 17, 61400235: 61400235

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...

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

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

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
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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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