MCID: SCR035
MIFTS: 26

Sacral Agenesis with Vertebral Anomalies

Categories: Genetic diseases, Neuronal diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Sacral Agenesis with Vertebral Anomalies

MalaCards integrated aliases for Sacral Agenesis with Vertebral Anomalies:

Name: Sacral Agenesis with Vertebral Anomalies 53 71 28 69
Spinal Diseases 69 41
Sava 53 71
Sacral Agenesis-Abnormal Ossification of the Vertebral Bodies-Persistent Notochordal Canal Syndrome 55

Characteristics:

Orphanet epidemiological data:

55
sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Antenatal,Neonatal; Age of death: infantile;

OMIM:

53
Inheritance:
autosomal recessive

Miscellaneous:
onset in utero
early death may occur


HPO:

31
sacral agenesis with vertebral anomalies:
Inheritance autosomal recessive inheritance
Onset and clinical course congenital onset


Classifications:



External Ids:

OMIM 53 615709
Orphanet 55 ORPHA397927
ICD10 via Orphanet 33 Q87.5
MeSH 41 D013122
ICD10 32 G12.9 M42.9
SNOMED-CT via HPO 65 258211005 205043005 74877002

Summaries for Sacral Agenesis with Vertebral Anomalies

UniProtKB/Swiss-Prot : 71 Sacral agenesis with vertebral anomalies: A disorder characterized by abnormalities of the spine, including sacral agenesis, abnormal ossification of all vertebral bodies, and a persistent notochordal canal during development.

MalaCards based summary : Sacral Agenesis with Vertebral Anomalies, also known as spinal diseases, is related to spinal disease and substance abuse, and has symptoms including abnormal vertebral morphology, acute back pain and sciatica. An important gene associated with Sacral Agenesis with Vertebral Anomalies is TBXT (T-Box Transcription Factor T).

Description from OMIM: 615709

Related Diseases for Sacral Agenesis with Vertebral Anomalies

Diseases related to Sacral Agenesis with Vertebral Anomalies via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 16)
# Related Disease Score Top Affiliating Genes
1 spinal disease 12.2
2 substance abuse 10.0
3 cervicitis 9.5
4 spondyloarthropathy 1 9.4
5 body mass index quantitative trait locus 1 9.4
6 psoriatic arthritis 9.4
7 bone mineral density quantitative trait locus 15 9.4
8 episodic pain syndrome, familial, 1 9.4
9 hydrops, lactic acidosis, and sideroblastic anemia 9.4
10 arthritis 9.4
11 inflammatory spondylopathy 9.4
12 coccidioidomycosis 9.4
13 plexopathy 9.4
14 brown-sequard syndrome 9.4
15 spondylitis 9.4
16 back pain 9.4

Graphical network of the top 20 diseases related to Sacral Agenesis with Vertebral Anomalies:



Diseases related to Sacral Agenesis with Vertebral Anomalies

Symptoms & Phenotypes for Sacral Agenesis with Vertebral Anomalies

Symptoms via clinical synopsis from OMIM:

53
Skeletal Spine:
sacral agenesis
vertical clefting of the vertebral bodies
persistent notochordal canal
defective ossification of the vertebral bodies


Clinical features from OMIM:

615709

Human phenotypes related to Sacral Agenesis with Vertebral Anomalies:

31
# Description HPO Frequency HPO Source Accession
1 abnormal vertebral morphology 31 HP:0003468

UMLS symptoms related to Sacral Agenesis with Vertebral Anomalies:


acute back pain, sciatica, back pain

Drugs & Therapeutics for Sacral Agenesis with Vertebral Anomalies

Search Clinical Trials , NIH Clinical Center for Sacral Agenesis with Vertebral Anomalies

Cochrane evidence based reviews: spinal diseases

Genetic Tests for Sacral Agenesis with Vertebral Anomalies

Genetic tests related to Sacral Agenesis with Vertebral Anomalies:

# Genetic test Affiliating Genes
1 Sacral Agenesis with Vertebral Anomalies 28 TBXT

Anatomical Context for Sacral Agenesis with Vertebral Anomalies

Publications for Sacral Agenesis with Vertebral Anomalies

Articles related to Sacral Agenesis with Vertebral Anomalies:

(show all 32)
# Title Authors Year
1
The potential of minimally invasive surgery to treat metastatic spinal disease versus open surgery: a systematic review and meta-analysis. ( 29408300 )
2018
2
Feasibility of a Modified E-PASS and POSSUM System for Postoperative Risk Assessment in Patients with Spinal Disease. ( 29277590 )
2017
3
Correlation of Functional Outcomes and Sagittal Alignment after Long Instrumented Fusion for Degenerative Thoracolumbar Spinal Disease. ( 29077603 )
2017
4
Robotic versus fluoroscopy-guided pedicle screw insertion for metastatic spinal disease: a matched-cohort comparison. ( 28463620 )
2017
5
Patient-perceived surgical indication influences patient expectations of surgery for degenerative spinal disease. ( 28359906 )
2017
6
Controversies in the differential diagnosis of Brown-Sequard syndrome due to cervical spinal disease from stroke: A case series. ( 28971161 )
2017
7
Modified Frailty Index and Body Mass Index as Predictors of Adverse Surgical Outcomes in Degenerative Spinal Disease. ( 29368317 )
2017
8
Comparison of Outcomes of Anterior, Posterior, and Transforaminal Lumbar Interbody Fusion Surgery at a Single Lumbar Level with Degenerative Spinal Disease. ( 28189865 )
2017
9
Spinal disease in myeloma: cohort analysis at a specialist spinal surgery centre indicates benefit of early surgical augmentation or bracing. ( 27401073 )
2016
10
Surgical Outcome Predictor in Degenerative Lumbar Spinal Disease Based on Health Related Quality of Life Using Euro-Quality 5 Dimensions Analysis. ( 27401654 )
2016
11
Dynamic stabilization using the Dynesys system versus posterior lumbar interbody fusion for the treatment of degenerative lumbar spinal disease: a clinical and radiological outcomes-based meta-analysis. ( 26721581 )
2016
12
What Is the Role of Epidural Steroid Injections in Lumbar Spinal Disease with Moderate Disability? ( 27228516 )
2016
13
Lumbar subcutaneous edema and degenerative spinal disease in patients with low back pain: a retrospective MRI study. ( 25904349 )
2015
14
Clinical reasoning in canine spinal disease: what combination of clinical information is useful? ( 26198211 )
2015
15
Artificial disc and vertebra system: a novel motion preservation device for cervical spinal disease after vertebral corpectomy. ( 26222819 )
2015
16
Smoking is Associated with Poorer Quality-Based Outcomes in Patients Hospitalized with Spinal Disease. ( 26075207 )
2015
17
Survival analysis in patients with metastatic spinal disease: the influence of surgery, histology, clinical and neurologic status. ( 25992524 )
2015
18
Lumbosacral Plexopathy Caused by Presacral Recurrence of Colon Cancer Mimicking Degenerative Spinal Disease: A Case Report. ( 26217393 )
2015
19
Microbiology and epidemiology of infectious spinal disease. ( 25289121 )
2014
20
Comparison of one versus two cages in lumbar interbody fusion for degenerative lumbar spinal disease: a meta-analysis. ( 25179359 )
2014
21
Tumor extravasation following a cement augmentation procedure for vertebral compression fracture in metastatic spinal disease. ( 24905395 )
2014
22
Comparative efficacy of levobupivacaine and ropivacaine for epidural block in outpatients with degenerative spinal disease. ( 25415777 )
2014
23
Minimally invasive percutaneous fixation techniques for metastatic spinal disease. ( 25179352 )
2014
24
Current paradigms for metastatic spinal disease: an evidence-based review. ( 24145995 )
2014
25
Not neural deformation or compression but instability is the cause of symptoms in degenerative spinal disease. ( 25558142 )
2014
26
Spinal instability as defined by the spinal instability neoplastic score is associated with radiotherapy failure in metastatic spinal disease. ( 24704681 )
2014
27
Quantification of vertebral involvement in metastatic spinal disease. ( 24015159 )
2013
28
Imaging spectrum of CNS coccidioidomycosis: prevalence and significance of concurrent brain and spinal disease. ( 23701073 )
2013
29
Expanding the spectrum of inflammatory spinal disease: AS it was, as it is now. ( 23873819 )
2013
30
Inflammatory spinal disease in psoriatic arthritis: a report from the GRAPPA 2010 annual meeting. ( 22298270 )
2012
31
Inflammatory biomarkers, disease activity and spinal disease measures in patients with ankylosing spondylitis after treatment with infliximab. ( 17644552 )
2008
32
[Therapeutic use of "biologics" in inflammatory joint and spinal diseases]. ( 12428439 )
2002

Variations for Sacral Agenesis with Vertebral Anomalies

UniProtKB/Swiss-Prot genetic disease variations for Sacral Agenesis with Vertebral Anomalies:

71
# Symbol AA change Variation ID SNP ID
1 TBXT p.His171Arg VAR_071251 rs587777303

ClinVar genetic disease variations for Sacral Agenesis with Vertebral Anomalies:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 TBXT NM_003181.3(TBXT): c.512A> G (p.His171Arg) single nucleotide variant Pathogenic rs587777303 GRCh37 Chromosome 6, 166579288: 166579288

Expression for Sacral Agenesis with Vertebral Anomalies

Search GEO for disease gene expression data for Sacral Agenesis with Vertebral Anomalies.

Pathways for Sacral Agenesis with Vertebral Anomalies

GO Terms for Sacral Agenesis with Vertebral Anomalies

Sources for Sacral Agenesis with Vertebral Anomalies

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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