MCID: SCR035
MIFTS: 28

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 57 75 29 6 40 73
Spinal Diseases 44 73
Sava 57 75
Sacral Agenesis-Abnormal Ossification of the Vertebral Bodies-Persistent Notochordal Canal Syndrome 59

Characteristics:

Orphanet epidemiological data:

59
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:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset in utero
early death may occur


HPO:

32
sacral agenesis with vertebral anomalies:
Inheritance autosomal recessive inheritance
Onset and clinical course congenital onset


Classifications:



External Ids:

OMIM 57 615709
Orphanet 59 ORPHA397927
ICD10 via Orphanet 34 Q87.5
MeSH 44 D013122
ICD10 33 G12.9 M42.9
SNOMED-CT via HPO 69 258211005 205043005 74877002

Summaries for Sacral Agenesis with Vertebral Anomalies

UniProtKB/Swiss-Prot : 75 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 back pain, sciatica and acute back pain. An important gene associated with Sacral Agenesis with Vertebral Anomalies is TBXT (T-Box Transcription Factor T). Affiliated tissues include brain, colon and spinal cord, and related phenotype is abnormal vertebral morphology.

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 15)
# Related Disease Score Top Affiliating Genes
1 spinal disease 12.2
2 substance abuse 10.1
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 arthritis 9.4
9 spinal cord injury 9.4
10 coccidioidomycosis 9.4
11 polyneuropathy 9.4
12 plexopathy 9.4
13 brown-sequard syndrome 9.4
14 spondylitis 9.4
15 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:

57
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:

32
# Description HPO Frequency HPO Source Accession
1 abnormal vertebral morphology 32 HP:0003468

UMLS symptoms related to Sacral Agenesis with Vertebral Anomalies:


back pain, sciatica, acute 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 29 TBXT

Anatomical Context for Sacral Agenesis with Vertebral Anomalies

MalaCards organs/tissues related to Sacral Agenesis with Vertebral Anomalies:

41
Brain, Colon, Spinal Cord

Publications for Sacral Agenesis with Vertebral Anomalies

Articles related to Sacral Agenesis with Vertebral Anomalies:

(show all 35)
# 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
Epidemiology and national trends in prevalence and surgical management of metastatic spinal disease. ( 29681425 )
2018
3
Controversies in the differential diagnosis of Brown-Sequard syndrome due to cervical spinal disease from stroke: A case series. ( 28971161 )
2017
4
Modified Frailty Index and Body Mass Index as Predictors of Adverse Surgical Outcomes in Degenerative Spinal Disease. ( 29368317 )
2017
5
Correlation of Functional Outcomes and Sagittal Alignment after Long Instrumented Fusion for Degenerative Thoracolumbar Spinal Disease. ( 29077603 )
2017
6
Patient-perceived surgical indication influences patient expectations of surgery for degenerative spinal disease. ( 28359906 )
2017
7
Comparison of Outcomes of Anterior, Posterior, and Transforaminal Lumbar Interbody Fusion Surgery at a Single Lumbar Level with Degenerative Spinal Disease. ( 28189865 )
2017
8
Robotic versus fluoroscopy-guided pedicle screw insertion for metastatic spinal disease: a matched-cohort comparison. ( 28463620 )
2017
9
Feasibility of a Modified E-PASS and POSSUM System for Postoperative Risk Assessment in Patients with Spinal Disease. ( 29277590 )
2017
10
What Is the Role of Epidural Steroid Injections in Lumbar Spinal Disease with Moderate Disability? ( 27228516 )
2016
11
Spinal disease in myeloma: cohort analysis at a specialist spinal surgery centre indicates benefit of early surgical augmentation or bracing. ( 27401073 )
2016
12
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
13
Surgical Outcome Predictor in Degenerative Lumbar Spinal Disease Based on Health Related Quality of Life Using Euro-Quality 5 Dimensions Analysis. ( 27401654 )
2016
14
Survival analysis in patients with metastatic spinal disease: the influence of surgery, histology, clinical and neurologic status. ( 25992524 )
2015
15
Lumbosacral Plexopathy Caused by Presacral Recurrence of Colon Cancer Mimicking Degenerative Spinal Disease: A Case Report. ( 26217393 )
2015
16
Clinical reasoning in canine spinal disease: what combination of clinical information is useful? ( 26198211 )
2015
17
Artificial disc and vertebra system: a novel motion preservation device for cervical spinal disease after vertebral corpectomy. ( 26222819 )
2015
18
Lumbar subcutaneous edema and degenerative spinal disease in patients with low back pain: a retrospective MRI study. ( 25904349 )
2015
19
Smoking is Associated with Poorer Quality-Based Outcomes in Patients Hospitalized with Spinal Disease. ( 26075207 )
2015
20
Microbiology and epidemiology of infectious spinal disease. ( 25289121 )
2014
21
Current paradigms for metastatic spinal disease: an evidence-based review. ( 24145995 )
2014
22
Spinal instability as defined by the spinal instability neoplastic score is associated with radiotherapy failure in metastatic spinal disease. ( 24704681 )
2014
23
Comparison of one versus two cages in lumbar interbody fusion for degenerative lumbar spinal disease: a meta-analysis. ( 25179359 )
2014
24
Not neural deformation or compression but instability is the cause of symptoms in degenerative spinal disease. ( 25558142 )
2014
25
Comparative efficacy of levobupivacaine and ropivacaine for epidural block in outpatients with degenerative spinal disease. ( 25415777 )
2014
26
Minimally invasive percutaneous fixation techniques for metastatic spinal disease. ( 25179352 )
2014
27
Tumor extravasation following a cement augmentation procedure for vertebral compression fracture in metastatic spinal disease. ( 24905395 )
2014
28
Quantification of vertebral involvement in metastatic spinal disease. ( 24015159 )
2013
29
Imaging spectrum of CNS coccidioidomycosis: prevalence and significance of concurrent brain and spinal disease. ( 23701073 )
2013
30
Expanding the spectrum of inflammatory spinal disease: AS it was, as it is now. ( 23873819 )
2013
31
Inflammatory spinal disease in psoriatic arthritis: a report from the GRAPPA 2010 annual meeting. ( 22298270 )
2012
32
Charcot spinal disease after spinal cord injury. ( 18976172 )
2008
33
Inflammatory biomarkers, disease activity and spinal disease measures in patients with ankylosing spondylitis after treatment with infliximab. ( 17644552 )
2008
34
[Therapeutic use of &amp;quot;biologics&amp;quot; in inflammatory joint and spinal diseases]. ( 12428439 )
2002
35
[Peroneal muscle atrophy with talipes cavus. Pyramidal symptoms and sensory disorders in one family. On the problem of the nosological classification of hereditary spinal diseases and polyneuropathies]. ( 2255880 )
1990

Variations for Sacral Agenesis with Vertebral Anomalies

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

75
# 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
2 TBXT NM_003181.3(TBXT): c.512A> G (p.His171Arg) single nucleotide variant Pathogenic rs587777303 GRCh38 Chromosome 6, 166165800: 166165800

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
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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