SAVA
MCID: SCR035
MIFTS: 36

Sacral Agenesis with Vertebral Anomalies (SAVA)

Categories: Fetal diseases, Genetic diseases, Neuronal 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:
Onset and clinical course congenital onset
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 615709
Orphanet 59 ORPHA397927
ICD10 via Orphanet 34 Q87.5
MeSH 44 D013122
ICD10 33 G12.9 M42.9

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 bone, testes and dorsal root ganglion, and related phenotypes are abnormal vertebral morphology and absence of the sacrum

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 23)
# Related Disease Score Top Affiliating Genes
1 spinal disease 12.3
2 substance abuse 10.2
3 arteries, anomalies of 10.1
4 coronary artery anomaly 10.1
5 spondyloarthropathy 1 9.8
6 spondylitis 9.8
7 myelitis 9.6
8 paraplegia 9.6
9 osteoporosis 9.5
10 aging 9.5
11 body mass index quantitative trait locus 1 9.5
12 psoriatic arthritis 9.5
13 bone mineral density quantitative trait locus 15 9.5
14 arthritis 9.5
15 spinal cord injury 9.5
16 coccidioidomycosis 9.5
17 lymphadenitis 9.5
18 gaucher's disease 9.5
19 plexopathy 9.5
20 arthropathy 9.5
21 brown-sequard syndrome 9.5
22 pain - chronic 9.5
23 foot drop 9.5

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
2 absence of the sacrum 32 HP:0010305

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
Bone, Testes, Dorsal Root Ganglion, Spinal Cord

Publications for Sacral Agenesis with Vertebral Anomalies

Articles related to Sacral Agenesis with Vertebral Anomalies:

(show top 50) (show all 62)
# Title Authors Year
1
Health Care Burden of Spinal Diseases in the Republic of Korea: Analysis of a Nationwide Database From 2012 Through 2016. ( 29656624 )
2018
2
Can We Assess the Success of Surgery for Degenerative Spinal Diseases Using Patients' Recall of Their Preoperative Status? ( 29729475 )
2018
3
Trends in Lumbar Fusion Procedure Rates and Associated Hospital Costs for Degenerative Spinal Diseases in the United States, 2004-2015. ( 30074971 )
2018
4
Associations between Obesity and Spinal Diseases: A Medical Expenditure Panel Study Analysis. ( 28208824 )
2017
5
Development of a short scale for assessing economic environmental aspects in patients with spinal diseases using Rasch analysis. ( 29017570 )
2017
6
Interspinous spacers versus posterior lumbar interbody fusion for degenerative lumbar spinal diseases: a meta-analysis of prospective studies. ( 26907877 )
2016
7
Surgical treatment of degenerative and traumatic spinal diseases with expandable screws in patients with osteoporosis: 2-year follow-up clinical study. ( 27314551 )
2016
8
Correlations of Japanese Orthopaedic Association Scoring Systems with Gait Parameters in Patients with Degenerative Spinal Diseases. ( 28032706 )
2016
9
Increasing Incidence of Degenerative Spinal Diseases in Japan during 25 Years: The Registration System of Spinal Surgery in Tohoku University Spine Society. ( 26876801 )
2016
10
Ultrasound versus fluoroscopic-guided epidural steroid injections in patients with degenerative spinal diseases: a randomised study. ( 24841502 )
2015
11
Evidence showing the relationship between sagittal balance and clinical outcomes in surgical treatment of degenerative spinal diseases: a literature review. ( 25192690 )
2015
12
Minimally Invasive Surgery for Traumatic Fractures in Ankylosing Spinal Diseases. ( 26225274 )
2015
13
Medical image computing in diagnosis and intervention of spinal diseases. ( 26364266 )
2015
14
Burden of Spinal Diseases: Results From Register Study In Sweden. ( 26533603 )
2015
15
Foot drop resulting from degenerative lumbar spinal diseases: clinical characteristics and prognosis. ( 24438801 )
2014
16
Simulation in spinal diseases. ( 24913963 )
2014
17
Behavioral trait of morningness-eveningness in association with articular and spinal diseases in a population. ( 25470493 )
2014
18
An analysis of spinopelvic sagittal alignment after lumbar lordosis reconstruction for degenerative spinal diseases: how much balance can be obtained? ( 25504101 )
2014
19
Adjacent segment pathology following anterior decompression and fusion using cage and plate for the treatment of degenerative cervical spinal diseases. ( 25558313 )
2014
20
The need for transparency in the treatment of spinal diseases. ( 23579762 )
2013
21
Litanium expandable pedicle screw for the treatment of degenerative and traumatic spinal diseases in osteoporotic patients: preliminary experience. ( 23023577 )
2012
22
Minimally invasive multilevel percutaneous pedicle screw fixation for lumbar spinal diseases. ( 25983845 )
2012
23
Surgical results of dynamic nonfusion stabilization with the Segmental Spinal Correction System for degenerative lumbar spinal diseases with instability: Minimum 2-year follow-up. ( 25802671 )
2011
24
Types and prevalence of coexisting spine lesions on whole spine sagittal MR images in surgical degenerative spinal diseases. ( 20376895 )
2010
25
Clinical approach and lesion localization in patients with spinal diseases. ( 20732589 )
2010
26
Differential diagnosis of spinal diseases. ( 20732590 )
2010
27
A patient-mount navigated intervention system for spinal diseases and its clinical trial on percutaneous pulsed radiofrequency stimulation of dorsal root ganglion. ( 20838268 )
2010
28
Floor activities and degenerative spinal diseases. ( 19894335 )
2009
29
Clinical approach and surgical strategy for spinal diseases in pregnant women: a report of ten cases. ( 18670331 )
2008
30
Neuroimaging of spinal diseases: a pictorial review. ( 18843583 )
2008
31
Assessment of gait and balance in patients with spinal diseases using the leg reposition test. ( 16119745 )
2005
32
Impact of degenerative spinal diseases on bone mineral density of the lumbar spine in elderly women. ( 14997287 )
2004
33
Validation of the Japanese version of the Roland-Morris Disability Questionnaire for Japanese patients with lumbar spinal diseases. ( 14560093 )
2003
34
Intervertebral cages for degenerative spinal diseases. ( 14589191 )
2003
35
[Therapeutic use of &amp;quot;biologics&amp;quot; in inflammatory joint and spinal diseases]. ( 12428439 )
2002
36
The intervertebral disk: a landmark for spinal diseases in children. ( 11870483 )
2002
37
Clinical results of posterolateral fusion for degenerative lumbar spinal diseases: a follow-up study of more than 10 years. ( 12077656 )
2002
38
Analysis of cartilage-derived retinoic acid-sensitive protein in cerebrospinal fluid From patients With spinal diseases. ( 11154535 )
2001
39
Imaging of fungal, viral, and parasitic musculoskeletal and spinal diseases. ( 11316364 )
2001
40
Comparative study of MR myelography and conventional myelography in the diagnosis of lumbar spinal diseases. ( 9884292 )
1998
41
Objective evaluation of pain in various spinal diseases: neuropeptide immunoreactivity in the cerebrospinal fluid. ( 9392047 )
1997
42
Commented glossary for rheumatic spinal diseases. ( 8572742 )
1996
43
Commented glossary for rheumatic spinal diseases. ( 8572743 )
1996
44
Commented glossary for rheumatic spinal diseases. ( 8572744 )
1996
45
Commented glossary for rheumatic spinal diseases, based on pathology. ( 7677436 )
1995
46
Lectures on the diseases of the nervous system. Jean Martin Charcot. Lectures on the localisation of cerebral and spinal diseases. Jean Martin Charcot. ( 8559328 )
1995
47
High-resolution 1H NMR spectroscopy of cerebrospinal fluid in spinal diseases. ( 8127445 )
1993
48
SPIR MRI in spinal diseases. ( 1592915 )
1992
49
[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
50
Indications for the use of Gd-DTPA in MRI of the central nervous system. Experiences in patients with cerebral and spinal diseases. ( 3198363 )
1988

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
Content
Loading form....