SAVA
MCID: SCR035
MIFTS: 30

Sacral Agenesis with Vertebral Anomalies (SAVA) malady

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

Aliases & Classifications for Sacral Agenesis with Vertebral Anomalies

Aliases & Descriptions for Sacral Agenesis with Vertebral Anomalies:

Name: Sacral Agenesis with Vertebral Anomalies 54 66 29 69
Spinal Diseases 42 69
Sacral Agenesis-Abnormal Ossification of the Vertebral Bodies-Persistent Notochordal Canal Syndrome 56
Sava 66

Characteristics:

Orphanet epidemiological data:

56
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;

HPO:

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


Classifications:



External Ids:

OMIM 54 615709
Orphanet 56 ORPHA397927
ICD10 via Orphanet 34 Q87.5
MeSH 42 D013122
ICD10 33 G12.9 M42.9

Summaries for Sacral Agenesis with Vertebral Anomalies

UniProtKB/Swiss-Prot : 66 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 abnormality of the vertebrae, back pain and sciatica. An important gene associated with Sacral Agenesis with Vertebral Anomalies is T (T Brachyury Transcription Factor). The drugs Teriparatide and Aminocaproic Acid have been mentioned in the context of this disorder.

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:

id Related Disease Score Top Affiliating Genes
1 spinal disease 12.1
2 substance abuse 9.9
3 psoriatic arthritis 9.3
4 arthritis 9.3
5 coccidioidomycosis 9.3
6 cervicitis 9.3
7 plexopathy 9.3
8 spondylitis 9.3
9 back pain 9.3

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 by clinical synopsis from OMIM:

615709

Clinical features from OMIM:

615709

Human phenotypes related to Sacral Agenesis with Vertebral Anomalies:

32
id Description HPO Frequency HPO Source Accession
1 abnormality of the vertebrae 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

Drugs for Sacral Agenesis with Vertebral Anomalies (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 1009)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Teriparatide Approved, Investigational Phase 4,Phase 3,Phase 2 52232-67-4 16133850
2
Aminocaproic Acid Approved, Investigational Phase 4,Phase 1 60-32-2 564
3
Tranexamic Acid Approved Phase 4,Phase 3,Phase 1,Phase 2 1197-18-8 5526
4
Adalimumab Approved Phase 4,Phase 3,Phase 2 331731-18-1 16219006
5
Certolizumab pegol Approved Phase 4,Phase 3,Phase 1 428863-50-7
6
Etanercept Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 185243-69-0
7
Infliximab Approved Phase 4,Phase 2,Phase 3,Phase 1 170277-31-3
8
Propofol Approved, Investigational, Vet_approved Phase 4,Phase 3,Phase 1,Phase 2 2078-54-8 4943
9
Sevoflurane Approved, Vet_approved Phase 4 28523-86-6 5206
10
Mitoxantrone Approved, Investigational Phase 4,Phase 2 65271-80-9 4212
11
Bupivacaine Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1 2180-92-9, 38396-39-3 2474
12
Epinephrine Approved, Vet_approved Phase 4,Phase 2,Phase 3 51-43-4 5816
13
Levobupivacaine Approved Phase 4,Phase 2,Phase 3 27262-47-1 92253
14
Morphine Approved, Investigational Phase 4,Phase 2,Phase 3,Phase 1,Early Phase 1 57-27-2 5288826
15
Fentanyl Approved, Illicit, Investigational, Vet_approved Phase 4,Phase 2,Phase 3,Phase 1 437-38-7 3345
16
Acetylcholine Approved Phase 4,Phase 3,Phase 2,Phase 1 51-84-3 187
17
Lidocaine Approved, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1 137-58-6 3676
18
Dopamine Approved Phase 4,Phase 2,Phase 3,Phase 1,Early Phase 1 51-61-6, 62-31-7 681
19
Norepinephrine Approved Phase 4,Phase 2,Phase 1,Early Phase 1 51-41-2 439260
20
Meperidine Approved Phase 4,Phase 3 57-42-1 4058
21
Oxymetazoline Approved Phase 4,Phase 3,Phase 2,Phase 1 1491-59-4 4636
22
Phenylephrine Approved Phase 4,Phase 3,Phase 2,Phase 1 59-42-7 6041
23
Memantine Approved, Investigational Phase 4,Phase 2,Phase 3 19982-08-2 4054
24
Ziconotide Approved Phase 4 107452-89-1 447451
25
Amitriptyline Approved Phase 4,Phase 2 50-48-6 2160
26
Cyclobenzaprine Approved Phase 4 303-53-7 2895
27
Pregabalin Approved, Illicit, Investigational Phase 4,Phase 3 148553-50-8 5486971
28
Benzocaine Approved Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1 1994-09-7, 94-09-7 2337
29
Acetazolamide Approved, Vet_approved Phase 4,Phase 2,Phase 3 59-66-5 1986
30
Riluzole Approved, Investigational Phase 4,Phase 2,Phase 3,Phase 1 1744-22-5 5070
31
Zoledronic acid Approved Phase 4,Phase 2,Phase 3,Phase 1 118072-93-8 68740
32
Ropivacaine Approved Phase 4,Phase 2,Phase 3 84057-95-4 71273 175805
33
Sufentanil Approved, Investigational Phase 4,Phase 2,Phase 3 56030-54-7 41693
34
Oxybutynin Approved, Investigational Phase 4,Phase 3 5633-20-5 4634
35
Ketamine Approved, Vet_approved Phase 4,Phase 2,Phase 3,Phase 1 6740-88-1 3821
36
Ketorolac Approved Phase 4,Phase 3,Phase 2 74103-06-3, 66635-83-4 3826
37
Coal tar Approved Phase 4,Phase 1,Phase 2 8007-45-2
38
Calcium carbonate Approved Phase 4,Phase 3,Phase 2 471-34-1
39
Naloxone Approved, Vet_approved Phase 4,Phase 2 465-65-6 5284596
40
Tramadol Approved, Investigational Phase 4,Phase 3,Phase 2 27203-92-5 33741
41
Menthol Approved Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1 2216-51-5 16666
42
Remifentanil Approved Phase 4,Phase 3,Phase 2,Phase 1 132875-61-7 60815
43
Midazolam Approved, Illicit Phase 4,Phase 2,Phase 3,Phase 1 59467-70-8 4192
44
Pamidronate Approved Phase 4,Phase 2 40391-99-9 4674
45
Methotrexate Approved Phase 4,Phase 3,Phase 2,Phase 1 1959-05-2, 59-05-2 126941
46
Betamethasone Approved, Vet_approved Phase 4,Phase 2,Phase 1,Early Phase 1 378-44-9 9782
47
Dexamethasone Approved, Investigational, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1 50-02-2 5743
48
Methylprednisolone Approved, Vet_approved Phase 4,Phase 2,Phase 3,Phase 1,Early Phase 1 83-43-2 6741
49
Prednisolone Approved, Vet_approved Phase 4,Phase 2,Phase 3,Phase 1,Early Phase 1 50-24-8 5755
50
Triamcinolone Approved, Vet_approved Phase 4,Phase 2,Phase 3,Phase 1,Early Phase 1 124-94-7 31307

Interventional clinical trials:

(show top 50) (show all 4594)
id Name Status NCT ID Phase
1 Does PTH 1-34 (Teriparatide) Enhance Spinal Fusion in Humans? Unknown status NCT02090244 Phase 4
2 Tranexamic Acid (TXA) Versus Epsilon Aminocaproic Acid (EACA) Versus Placebo for Spine Surgery Unknown status NCT00958581 Phase 4
3 Effect of Human Thrombin With Gelatin Matrix on Perioperative Blood Loss in Scoliosis Surgery Unknown status NCT01451788 Phase 4
4 Evaluation of Bone Union Following Anterior Cervical Fusion Using a NovoMax™ Unknown status NCT02425514 Phase 4
5 Danish Multicenter Study of Adalimumab in Spondyloarthritis Unknown status NCT00477893 Phase 4
6 Safety and Efficacy of Anti-Pandemic H1N1 Vaccination in Rheumatic Diseases Unknown status NCT01151644 Phase 4
7 Conservative Versus Aggressive Discectomy for Primary Disc Herniation With Radiculopathy Unknown status NCT01204008 Phase 4
8 Protocol for H.P. Acthar Gel in Moderately to Severely Active Psoriatic Arthritis Unknown status NCT01939132 Phase 4
9 Effects of Biological Treatment on Blood Pressure and Endothelial Function in Patients With Rheumatoid Arthritis, Psoriatic Arthritis and Ankylosing Spondylitis Unknown status NCT02132234 Phase 4
10 Heart Function in Rheumatoid Arthritis and Ankylosing Spondylitis Pre and Post-TNF Blocker Unknown status NCT01072058 Phase 4
11 Effects of Different Anti-rheumatic Treatments of Arthritis on Antibody Response Following Pneumococcal Vaccination Using Prevenar® Unknown status NCT00828997 Phase 4
12 Efficacy and Safety of SurgiFill™ on Spinal Fusion Unknown status NCT02466048 Phase 4
13 Anesthesia Induction in Patients Undergoing Surgery for Cervical Myelopathy Unknown status NCT01052337 Phase 4
14 Efficacy and Safety of Mitoxantrone in Patients With Refractory Neuromyelitis Optica and Spectrum Disorders Unknown status NCT02021825 Phase 4
15 Spinal Cord Stimulation (SCS) in Refractory Angina Unknown status NCT00121654 Phase 4
16 Antispastic Effect of Transcranial Magnetic Stimulation in Patients With Cerebral and Spinal Spasticity Unknown status NCT01786005 Phase 4
17 The Analgesic Efficacy of Local Anaesthetic Wound Infiltration Versus Intrathecal Morphine for Total Knee Replacement Unknown status NCT01312415 Phase 4
18 Comparison of Standard and Minidose Spinal Anesthesia for Cesarean Section Operation Using Marcaine Spinal 0.5% Heavy Unknown status NCT01303731 Phase 4
19 Botox for Neurogenic Detrusor Overactivity and the Prevention of Autonomic Dysreflexia Following SCI Unknown status NCT02298660 Phase 4
20 The Effect of Duloxetine on Interoceptive Awareness Unknown status NCT00337012 Phase 4
21 Study of the Effectiveness of Administration of Meperidine on the Length of Active Phase of Labor in Women Unknown status NCT01555671 Phase 4
22 Hyperbaric Bupivacaine and Hyperbaric Levobupivacaine in C/S Unknown status NCT02025374 Phase 4
23 The Analgesic Efficacy of Periarticular Infiltration of Local Anaesthetic for Total Hip Replacement Unknown status NCT01312077 Phase 4
24 ED50 Determination of Hydroxyethylstarch for Treatment of Hypotension During Cesarean Section Under Spinal Anesthesia Unknown status NCT01415284 Phase 4
25 Low Dose Bupivacaine Spinal for Trans Uretral Prostatectomy. Unknown status NCT01861041 Phase 4
26 Memantine for Post-Operative Pain Control Unknown status NCT01041313 Phase 4
27 Single Shot Intrathecal Ziconotide for Painful Neuropathy or Myelopathy Unknown status NCT01992562 Phase 4
28 Exoskeletons for Spinal Cord Injury: A Feasibility Study Unknown status NCT01943669 Phase 4
29 Eyegaze Systems for Spinal Cord Injury: A Feasibility Study Unknown status NCT01943656 Phase 4
30 Functional Electrical Stimulation-Assisted Walking: Reduction of Secondary Complications Due to Spinal Cord Injury Unknown status NCT00201968 Phase 4
31 Cyclobenzaprine Extended Release (ER) for Fibromyalgia Unknown status NCT01041495 Phase 4
32 Management of Chronic Pain in Military Patients With Injuries Sustained During Active Duty Unknown status NCT01616342 Phase 4
33 Pregabalin for the Treatment and Prevention of Spinal Cord Injury Neuropathic Pain Unknown status NCT01479556 Phase 4
34 A Study to Evaluate the Efficacy and Safety of Vardenafil in Men With Erectile Dysfunction Caused by Spinal Cord Injury Unknown status NCT00725790 Phase 4
35 Effect of Mu-opioid Receptor Genetics on 3 Doses of Spinal Morphine for Postoperative Analgesia After Cesarean Section Unknown status NCT01465191 Phase 4
36 Use of Intrathecal Fentanyl and Development of Hyperalgesia in Patients Undergoing Elective Cesarean Unknown status NCT02387060 Phase 4
37 Effectiveness of Acetazolamide in Reducing Paralysis of the Leg in Patients Undergoing Aortic Aneurysm Surgery Surgery Unknown status NCT01889498 Phase 4
38 Non-Invasive Ventilation in Amyotrophic Lateral Sclerosis Unknown status NCT00560287 Phase 4
39 Evaluate the Relationship of Bone Remodeling Markers for Skeletal Complications in Metastatic Breast Cancer Patients Unknown status NCT00912938 Phase 4
40 Continuous Pre-uterine Wound Infiltration Versus Intrathecal Morphine for Postoperative Analgesia After Cesarean Section Unknown status NCT02279628 Phase 4
41 Effect of Botulinum Toxin in Neurogenic Bladders in Children With Myelomeningocele Unknown status NCT00175123 Phase 4
42 The Effect of Ketamine Infusion on Lumbar Surgery Unknown status NCT02154438 Phase 4
43 Postoperative Pain Relief Following Total Hip Arthroplasty. A Comparison Between Intrathecal Morphine (IM) and Local Infiltration Analgesia (LIA) Unknown status NCT01281891 Phase 4
44 Study on the Effects of Oxygen-ozone Therapy on Back Pain in Subjects Aged 65 or Older Unknown status NCT01709058 Phase 4
45 Analgesic Effects of the Gastrolith, in Osteoporotic Patients Suffering From Recent Skeletal Pain Caused by Vertebral Fractures Unknown status NCT01482858 Phase 4
46 Effects of Pregabalin on Mechanical Hyperalgesia Unknown status NCT00310583 Phase 4
47 Immunogenicity of 1 or 2 Doses of bOPV in Chilean Infants Primed With IPV Vaccine Unknown status NCT01841671 Phase 4
48 An Interventional Study to Assess the Efficacy and Safety of Oxycodone/Naloxone in Korean Patients With Spinal Disorders Completed NCT01811238 Phase 4
49 An Interventional Study to Assess the Efficacy and Safety of Buprenorphine in Korean Patients With Spinal Disorders Completed NCT01818700 Phase 4
50 Study on Impact of Fentanyl Matrix on Improvement of Pain and Functioning in Spinal Disorder-related Pain Completed NCT00797017 Phase 4

Search 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:

id Genetic test Affiliating Genes
1 Sacral Agenesis with Vertebral Anomalies 29

Anatomical Context for Sacral Agenesis with Vertebral Anomalies

Publications for Sacral Agenesis with Vertebral Anomalies

Variations for Sacral Agenesis with Vertebral Anomalies

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

66
id Symbol AA change Variation ID SNP ID
1 T p.His171Arg VAR_071251 rs587777303

ClinVar genetic disease variations for Sacral Agenesis with Vertebral Anomalies:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 T NM_003181.3(T): 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
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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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