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 72 36 29 6 39 70
Spinal Diseases 44 70
Sava 57 72
Sacral Agenesis-Abnormal Ossification of the Vertebral Bodies-Persistent Notochordal Canal Syndrome 58


Orphanet epidemiological data:

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;


57 (Updated 05-Apr-2021)
autosomal recessive

onset in utero
early death may occur


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


Orphanet: 58  
Rare neurological diseases
Developmental anomalies during embryogenesis

External Ids:

OMIM® 57 615709
KEGG 36 H02324
MeSH 44 D013122
ICD10 via Orphanet 33 Q87.5
Orphanet 58 ORPHA397927
UMLS 70 C0037933 C3810343

Summaries for Sacral Agenesis with Vertebral Anomalies

KEGG : 36 Sacral agenesis with vertebral anomalies is a novel syndrome consisting of sacral agenesis, abnormal ossification of the vertebral bodies and a persistent notochordal canal. It has been reported that mutations in the T (brachyury) gene cause this disease.

MalaCards based summary : Sacral Agenesis with Vertebral Anomalies, also known as spinal diseases, is related to spinal disease and inflammatory spondylopathy, 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). The drugs Milnacipran and Norepinephrine have been mentioned in the context of this disorder. Affiliated tissues include bone, bone marrow and spinal cord, and related phenotypes are abnormal vertebral morphology and absence of the sacrum

UniProtKB/Swiss-Prot : 72 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.

More information 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 top 50) (show all 87)
# Related Disease Score Top Affiliating Genes
1 spinal disease 11.3
2 inflammatory spondylopathy 10.2
3 spondylitis 10.2
4 spinal stenosis 10.2
5 substance abuse 10.1
6 back pain 10.1
7 spondyloarthropathy 1 10.1
8 spondylolisthesis 10.1
9 spondylosis 10.1
10 papillomatosis, confluent and reticulated 10.0
11 human immunodeficiency virus type 1 10.0
12 cataract 10.0
13 scoliosis 10.0
14 enthesopathy 9.9
15 multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly 9.9
16 yemenite deaf-blind hypopigmentation syndrome 9.9
17 autoimmune lymphoproliferative syndrome 9.9
18 hypospadias 9.9
19 duodenal ulcer 9.9
20 idiopathic scoliosis 9.8
21 hyperostosis 9.8
22 glioma susceptibility 1 9.7
23 lipomatosis, multiple 9.7
24 osteoporosis 9.7
25 pernicious anemia 9.7
26 rheumatoid arthritis 9.7
27 scheuermann disease 9.7
28 osteoid osteoma 9.7
29 body mass index quantitative trait locus 11 9.7
30 body mass index quantitative trait locus 9 9.7
31 body mass index quantitative trait locus 8 9.7
32 intervertebral disc disease 9.7
33 meningioma, familial 9.7
34 body mass index quantitative trait locus 4 9.7
35 body mass index quantitative trait locus 10 9.7
36 body mass index quantitative trait locus 7 9.7
37 bone mineral density quantitative trait locus 8 9.7
38 body mass index quantitative trait locus 12 9.7
39 body mass index quantitative trait locus 14 9.7
40 bone mineral density quantitative trait locus 15 9.7
41 body mass index quantitative trait locus 18 9.7
42 body mass index quantitative trait locus 19 9.7
43 neurodevelopmental, jaw, eye, and digital syndrome 9.7
44 deficiency anemia 9.7
45 myelomeningocele 9.7
46 bone disease 9.7
47 intracranial meningioma 9.7
48 pleomorphic lipoma 9.7
49 charcot-marie-tooth disease 9.7
50 hydrocephalus 9.7

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

Human phenotypes related to Sacral Agenesis with Vertebral Anomalies:

# Description HPO Frequency HPO Source Accession
1 abnormal vertebral morphology 31 HP:0003468
2 absence of the sacrum 31 HP:0010305

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Skeletal Spine:
sacral agenesis
vertical clefting of the vertebral bodies
persistent notochordal canal
defective ossification of the vertebral bodies

Clinical features from OMIM®:

615709 (Updated 05-Apr-2021)

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 100)
# Name Status Phase Clinical Trials Cas Number PubChem Id
Milnacipran Approved, Investigational Phase 4 92623-85-3 65833
Norepinephrine Approved Phase 4 51-41-2 439260
Levomilnacipran Approved, Investigational Phase 4 96847-54-0
Buprenorphine Approved, Illicit, Investigational, Vet_approved Phase 4 52485-79-7 644073 40400
Oxycodone Approved, Illicit, Investigational Phase 4 76-42-6 5284603
Naloxone Approved, Vet_approved Phase 4 465-65-6 5284596
Dexmedetomidine Approved, Vet_approved Phase 4 113775-47-6 5311068 68602
Tramadol Approved, Investigational Phase 4 27203-92-5 33741
Ropivacaine Approved Phase 4 84057-95-4 71273 175805
Magnesium Sulfate Approved, Investigational, Vet_approved Phase 4 7487-88-9 24083
Vancomycin Approved Phase 4 1404-90-6 14969 441141
12 Anti-Arrhythmia Agents Phase 4
13 Adrenergic Agents Phase 4
14 Neurotransmitter Agents Phase 4
15 Psychotropic Drugs Phase 4
16 Serotonin and Noradrenaline Reuptake Inhibitors Phase 4
17 Antidepressive Agents Phase 4
18 Neuromuscular Nondepolarizing Agents Phase 4
19 Neuromuscular Blocking Agents Phase 4
20 Narcotic Antagonists Phase 4
21 Calcium, Dietary Phase 4
22 Hormones Phase 4
23 Anticonvulsants Phase 4
24 Tocolytic Agents Phase 4
25 calcium channel blockers Phase 4
26 Adrenergic alpha-Agonists Phase 4
27 Hypnotics and Sedatives Phase 4
28 Adrenergic Agonists Phase 4
29 Narcotics Phase 4
30 Anti-Bacterial Agents Phase 4
31 Anti-Infective Agents Phase 4
Serotonin Investigational, Nutraceutical Phase 4 50-67-9 5202
Calcium Nutraceutical Phase 4 7440-70-2 271
Etanercept Approved, Investigational Phase 2, Phase 3 185243-69-0
35 Immunosuppressive Agents Phase 2, Phase 3
36 Immunologic Factors Phase 2, Phase 3
37 Gastrointestinal Agents Phase 2, Phase 3
Mepivacaine Approved, Vet_approved Phase 1, Phase 2 96-88-8 4062
Melphalan Approved Phase 1 148-82-3 4053 460612
Coal tar Approved Phase 1 8007-45-2
41 Alkylating Agents Phase 1
42 Anti-Inflammatory Agents Phase 1
43 Adavivint Phase 1
Dexamethasone Approved, Investigational, Vet_approved 50-02-2 5743
Dexamethasone acetate Approved, Investigational, Vet_approved 1177-87-3
Povidone-iodine Approved 25655-41-8
Povidone Approved 9003-39-8 131751496
Iodine Approved, Investigational 7553-56-2 807
Hyaluronic acid Approved, Vet_approved 9004-61-9 53477741
Atracurium Approved, Experimental, Investigational 64228-79-1 47319

Interventional clinical trials:

(show top 50) (show all 180)
# Name Status NCT ID Phase Drugs
1 The Effect of Dexmedetomidine Subsidiary Analgesia and Sedation in Minimally Invasive Spine Surgery Under Local Anesthesia:A Randomized, Double Blind Controlled Trial Unknown status NCT02535273 Phase 4 Dexmedetomidine;Lidocaine;Low-dose Dexmedetomidine;Moderate-dose Dexmedetomidine;High-dose Dexmedetomidine;normal saline
2 The Effect of Perioperative Lidocaine Intravenous Infusion on Postoperative Recovery After Spine Surgery. Unknown status NCT02762656 Phase 4 Lidocaine
3 Effects of Preoperative Oral Carbohydrates Loading in Patients at High Risk of Postoperative Nausea and Vomiting Undergoing Spinal Surgery Unknown status NCT02809950 Phase 4
4 Deep Versus Moderate Neuromuscular Blockade for Optimising Surgical Conditions Include Patient Benefits During Spinal Surgery: A Randomized Controlled Double Blinded Clinical Study Unknown status NCT02778945 Phase 4 Rocuronium 0.9 mg/kg;Rocuronium 0.6 mg/kg
5 A Ten-Week, Randomized, Double-Blind, Placebo-Controlled Parallel-Group Study of Milnacipran for Radicular Pain Associated With Lumbosacral Disk Disease Completed NCT01777581 Phase 4 Milnacipran;Placebo
6 A Multicenter, Phase IV, Interventional Study to Assess the Efficacy and Safety of NORSPAN® (Buprenorphine) in Korean Patients With Spinal Disorders (NOBLE) Completed NCT01818700 Phase 4 Buprenorphine
7 Comparison of Operating Conditions, Postoperative Recovery and Overall Satisfaction Between Deep and Restricted Neuromuscular Blockade for Spinal Surgery Under General Anesthesia Completed NCT02724111 Phase 4 sufficient dose of rocuronium;sugammadex 10 min after position change
8 Comparison of Internal Disc Decompression (IDD) vs. a Standardized Non-surgical Treatment Program for Chronic Low Back Pain Secondary to Mild to Moderate Degenerative Disc Disease (DDD) Completed NCT00165893 Phase 4
9 A Multicenter, Phase IV, Interventional Study to Assess the Efficacy and Safety of TARGIN(R) (Oxycodone/Naloxone) in Korean Patients With Spinal Disorders Completed NCT01811238 Phase 4 Oxycodone/naloxone
10 Ultrasound Guided Modified Thoracolumbar Interfascial Plane Block for Spinal Surgery: A New Approach Completed NCT03079076 Phase 4 Bupivacaine;Saline
11 Does Continuous Perioperative Dexmedetomidine Infusion Reduce Time to Discharge in Patients Undergoing Major Lumbar Fusion? A Double-Blind, Placebo-Controlled Study Completed NCT00808665 Phase 4 Dexmedetomidine;0.9% Saline
12 Effects of Intraoperative Magnesium Sulfate on Pain Relief, Hemodynamics and Quality of Recovery After Spine Surgery Completed NCT04161729 Phase 4 Magnesium Sulfate;Isotonic saline 0.9%
13 Randomized Evaluation of Arterial Pressure Based Cardiac Output for Goal-Directed Perioperative Therapy Completed NCT00526331 Phase 4
14 Effect of Wound Infiltration With Tramadol, Dexmedetomidine, or Magnesium Sulfate as Adjuncts to the Local Anesthetic on Pain Relief After Spine Surgery Recruiting NCT04391855 Phase 4 Tramadol with ropivacaine;Dexmedetomidine with ropivacaine;Magnesium with ropivacaine;Ropivacaine plus normal saline
15 The Effect of Intrawound Vancomycin Powder in Spine Surgery: A Prospective Randomized Controlled Trial Recruiting NCT04825522 Phase 4 Vancomycin
16 A Multi-Centre, Prospective, Randomized, Post Marketing Surveillance Study Comparing Cervical Arthroplasty to Anterior Cervical Discectomy and Fusion (ACDF) for the Treatment of Cervical Degenerative Disc Disease Terminated NCT00700739 Phase 4
17 Assessment of Circulating Tumor Cell Burden After Radiofrequency-Based Plasma Ablation (COBLATION®) in Conjunction With Vertebroplasty or Kyphoplasty for Augmenting Painful Vertebral Compression Fractures Secondary to Malignancy Terminated NCT00819832 Phase 4
18 A Prospective and Randomized Controlled Trial to Evaluate the Safety and Effectiveness of Total Facet Arthroplasty in the Treatment of Degenerative Spinal Stenosis Unknown status NCT00418197 Phase 3
19 Phase III Study of Human Bone Marrow-Derived Mesenchymal Stem Cells to Treat AS Unknown status NCT02809781 Phase 2, Phase 3 Etanercept
20 "A Prospective, Randomized Controlled Clinical Investigation of MAVERICK™ Total Disc Replacement in Patients With Degenerative Disc Disease" Completed NCT00635843 Phase 3
21 The Value of Mechanical Traction in the Treatment of Cervical Radiculopathy Completed NCT00979108 Phase 3
22 Neurosurgery Patient Outcomes in Treating Spinal Disorders Completed NCT01220921 Phase 3
23 A Pivotal, Multi-Center, Clinical Trial Evaluating The Safety And Effectiveness of The Lumbar TDR Device In Patients With Single-Level Lumbar Degenerative Disc Disease Completed NCT00927238 Phase 3
24 A Study of SI-6603 in Patients With Lumbar Disc Herniation Completed NCT01941563 Phase 3 Condoliase;placebo
25 A Multicenter, Open-label Study of SI 6603 in Patients With Lumbar Disc Herniation (Phase III) Completed NCT02421601 Phase 3 Condoliase
26 The Value of Traction in Treatment of Lumbar Radiculopathy. Completed NCT00942227 Phase 3
27 Intradiscal and Intra-articular Injection of Autologous Platelet-Rich-Plasma (PRP) in Patients With Lumbar Degenerative Disc Disease and Facet Joint Syndrome: A Prospective, Single-arm, Open Label Clinical Trial Not yet recruiting NCT04816747 Phase 3
28 Study Phase III to Evaluate the Noninferiority of Heavy Levobupivacaine 50% Enantiomeric Excess (Levobupivacaine S75:R25) Compared to Racemic Heavy Bupivacaine (Bupivacaine S50:R50) in Spinal Anesthesia for Lower Limb Orthopedic Procedures Withdrawn NCT01994967 Phase 3 Levobupivacaine;Bupivacaine
29 Treatment of Lumbar Degenerative Disc Disease With Allogenic Mesenchymal Stem Cells (MSV*) *MSV: Bone Marrow Mesenchymal Stromal Cells Expanded Using the Valladolid IBGM Procedure Completed NCT01860417 Phase 1, Phase 2 Mepivacaine
30 Clinical Trial Phase I / II Prospective, Open, Non-randomized for Treatment of Lumbar Intervertebral Degenerative Disc Disease With Posterolateral Instrumented and Autologous Mesenchymal Stem Cells. Completed NCT01513694 Phase 1, Phase 2
31 A Double-blind, Randomized, Parallel, Placebo Controlled, Phase I/II Clinical Trial to Investigate the Safety, Tolerability and Efficacy of YH14618 Following Single Intradiscal Injection in Patients With Degenerative Disc Disease Completed NCT01526330 Phase 1, Phase 2 YH14618;YH14618;YH14618;Placebo
32 A Phase 2, Double-Blind, Saline-Controlled, Randomized Study to Evaluate the Safety and Preliminary Efficacy of a Single Dose Intradiscal Injection of BRTX 100 for Patients With Chronic Lumbar Disc Disease (cLDD) Not yet recruiting NCT04042844 Phase 2 Saline
33 A Study to Evaluate the Safety and Effectiveness of the PDS System to Treat Back Pain Associated With Degenerative Disc Disease Terminated NCT00878579 Phase 2
34 Analgesic Effects of Perioperative Propranolol Administration for Spine Surgery Withdrawn NCT04421209 Phase 2 Propranolol Hcl 40mg Tab;Placebo oral tablet
35 Lumbar Degenerative Disc Disease Treatment With Bone Marrow Autologous Mesenchymal Stem Cells (MSV) Withdrawn NCT02440074 Phase 1, Phase 2
36 Molecular Imaging Modality by Positron Emission Tomography Using 18F-X : Study of Microglial Activation in Amyotrophic Lateral Sclerosis Unknown status NCT00563537 Phase 1
37 Selective Intra-arterial Chemotherapy in the Treatment Strategy of Metastatic Spinal Disease Completed NCT01637766 Phase 1 Melphalan (intra-arterial infusion)
38 A Phase I Study Evaluating the Safety and Feasibility of Autologous, Culture-Expanded Adipose-Derived Mesenchymal Stromal Cells in Subjects With Painful Degenerative Disc Disease Active, not recruiting NCT03461458 Phase 1 Autologous Adipose-Derived Mesenchymal Stromal Cells
39 A Phase 1, Open-label Study of the Safety, Tolerability, and Pharmacokinetics of SM04690 Injectable Suspension Following Single Intradiscal Injection in Subjects With Degenerative Disc Disease Terminated NCT03246399 Phase 1 SM04690
40 Effectiveness and Patient-reported Outcomes in Patients With Spondyloarthropathies Treated With Biological Agents Unknown status NCT02948608
41 Proprioception and Eye-head Coordination for the Cervical Spine Unknown status NCT00172237
42 Comparison of Baseline Characteristics and Patient Reported Outcome After Surgical Treatment of Degenerative Lumbar Disc Disease in Scandinavia Unknown status NCT02980822
43 Effect of Positive End Expiratory Pressure on Intraoperative Body Temperature in Patients Undergoing Spine Surgery; a Prospective Randomized Study Unknown status NCT02416557
44 The Prone XLIF. An Observational Pilot Study Based on Prospective Study Unknown status NCT03509389
45 National Neurosurgical and Orthopedic Optimum Care Continuum Spine Registry Exposure for Various Implants/Products Unknown status NCT02187666
46 Physical Activity, Motor Competence, Pulmonary Function, and Quality of Life in Children With Severe Spinal Disease Unknown status NCT03494829
47 Freedom® Cervical Disc Use In The Treatment of Cervical Degenerative Disc Disease Unknown status NCT01763619
48 Transitional Care Services: A Quality and Safety Process Improvement Programme in Neurosurgery Unknown status NCT03593330
49 The Effect of AposTherapy on the Level of Pain, Function and Quality of Life in Patients With Neuro-muscular and Neurological Disorders Unknown status NCT01266382
50 Spine Registry Exposure for: Lumbar and Cervical Surgery Utilizing IOM Unknown status NCT02187653

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:

# 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:

Bone, Bone Marrow, Spinal Cord, Eye, B Cells, Kidney

Publications for Sacral Agenesis with Vertebral Anomalies

Articles related to Sacral Agenesis with Vertebral Anomalies:

(show top 50) (show all 224)
# Title Authors PMID Year
Mutations in the T (brachyury) gene cause a novel syndrome consisting of sacral agenesis, abnormal ossification of the vertebral bodies and a persistent notochordal canal. 57 6
24253444 2014
Identification and quantification of the major phenolic constituents in Juglans regia L. peeled kernels and pellicles, using HPLC-MS/MS. 61
33676122 2021
Prior Exposure to Intimate Partner Violence Associated With Less HIV Testing Among Young Women. 61
29651922 2021
Homage to Dr med. Božidar Kostić. 61
33657916 2021
Priority and emerging organic microcontaminants in three Mediterranean river basins: Occurrence, spatial distribution, and identification of river basin specific pollutants. 61
33254885 2021
Jasenovac. 61
32693674 2021
"Violence and love and drugs…it all goes hand in hand": A mixed methods analysis of the substance abuse, violence, and HIV/AIDS syndemic among women who use methamphetamine. 61
33492198 2021
Characterization of macrolide resistance in bacteria isolated from macrolide-polluted and unpolluted river sediments and clinical sources in Croatia. 61
33370905 2020
Toxicity prediction and effect characterization of 90 pharmaceuticals and illicit drugs measured in plasma of fish from a major European river (Sava, Croatia). 61
32771868 2020
A telephone based assessment of the health situation in the far north region of Cameroon. 61
33292396 2020
Unravelling the effects of multiple stressors on diatom and macroinvertebrate communities in European river basins using structural and functional approaches. 61
32721725 2020
Cocaine Reduces Ciliary Beat Frequency of Human Nasal Epithelial Cells. 61
33144435 2020
Diaporthe seed decay of soybean [Glycine max (L.) Merr.] is endemic in the United States, but new fungi are involved. 61
33231523 2020
Modeling upstream socioeconomic inequities and syndemic conditions among mothers over time. 61
33155326 2020
Geochemical Characteristics and Preliminary Assessment of Geochemical Threshold Values of Technology-Critical Elements in Soils Developed on Different Geological Substrata Along the Sava River Headwaters (Slovenia, Croatia). 61
33211121 2020
Comparison of ciliary beat frequencies at different temperatures in young adults. 61
33263055 2020
Suicide risk among persons living with HIV. 61
32741212 2020
The association between plasma proteomics and incident cardiovascular disease identifies MMP-12 as a promising cardiovascular risk marker in patients with chronic kidney disease. 61
32702535 2020
Sensitivity of Bleak (Alburnus alburnus) in Detection of the Wastewater Related Pressure in Large Lowland Rivers. 61
32710385 2020
Electronic cigarette extract induced toxic effect in iPS-derived cardiomyocytes. 61
32758132 2020
A new species of the endemic Madagascan scarab beetle genus, Madecorphnus grebennikovi (Coleoptera: Scarabaeidae: Orphninae): morphological description and DNA barcode. 61
33055982 2020
Evaluation of azamethiphos and dimethoate degradation using chlorine dioxide during water treatment. 61
32399889 2020
Combining quantitative and qualitative approaches using Sequential Window Acquisition of All Theoretical Fragment-Ion methodology for the detection of pharmaceuticals and related compounds in river fish extracted using a sample miniaturized method. 61
32173027 2020
Examination of degradation and ecotoxicology of pethoxamid and metazachlor after chlorine dioxide treatment. 61
32519186 2020
Epidemiologic and Epizootic Data of Tularemia in the Past and in the Recent History in Croatia. 61
32408663 2020
Impact of reservoir properties on elemental accumulation and histopathology of European perch (Perca fluviatilis). 61
31812045 2020
Achieving self-sustainability of service delivery in an eye care program in Madagascar using time-driven activity based costing. 61
32164713 2020
Structural and syndemic barriers to PrEP adoption among Black women at high risk for HIV: a qualitative exploration. 61
32212993 2020
Risk assessment of using fish from different types of reservoirs as human food - A study on European perch (Perca fluviatilis). 61
31733974 2020
The potential of elm trees (Ulmus glabra Huds.) for the phytostabilisation of potentially toxic elements in the riparian zone of the Sava River. 61
31832952 2020
Oxidative degradation and mineralization of bentazone from water. 61
32880524 2020
Evaluation of Salix alba, Juglans regia and Populus nigra as biomonitors of PTEs in the riparian soils of the Sava River. 61
31965342 2020
Back to basics: Gaps in baseline data call for revisiting an environmental education program in the SAVA region, Madagascar. 61
32315367 2020
Taxonomic revision of the Pheidole sikorae species group (Hymenoptera, Formicidae) from Madagascar. 61
32765176 2020
Gendered syndemic of intimate partner violence, alcohol misuse, and HIV risk among peri-urban, heterosexual men in South Africa. 61
31708236 2019
New Myxophagan water beetles from Madagascar (Coleoptera: Torridincolidae, Hydroscaphidae). 61
31716796 2019
Radon-based atmospheric stability classification in contrasting sub-Alpine and sub-Mediterranean environments. 61
30901740 2019
The occurrence of contaminants of emerging concern in Slovenian and Croatian wastewaters and receiving Sava river. 61
30293000 2019
Pollution from azithromycin-manufacturing promotes macrolide-resistance gene propagation and induces spatial and seasonal bacterial community shifts in receiving river sediments. 61
30622075 2019
Long-term analysis of fish assemblage structure in the middle section of the Sava River - The impact of pollution, flood protection and dam construction. 61
30227284 2019
Potentially toxic elements in muscle tissue of different fish species from the Sava River and risk assessment for consumers. 61
30308870 2019
Hydrological system behaviour of an alluvial aquifer under climate change. 61
30308889 2019
Impact and mitigation of global change on freshwater-related ecosystem services in Southern Europe. 61
30266055 2019
Levels of regulated POPs in fish samples from the Sava River Basin. Comparison to legislated quality standard values. 61
30077159 2019
Particle bound pollutants in rivers: Results from suspended sediment sampling in Globaqua River Basins. 61
30092520 2019
A Longitudinal Analysis of the Substance Abuse, Violence, and HIV/AIDS (SAVA) Syndemic among Women in the Criminal Justice System. 61
30626264 2019
Occurrence of C60 and related fullerenes in the Sava River under different hydrologic conditions. 61
30189528 2018
Assessment of river sediment toxicity: Combining empirical zebrafish embryotoxicity testing with in silico toxicity characterization. 61
29945079 2018
Determination of hexavalent Cr in river sediments by speciated isotope dilution inductively coupled plasma mass spectrometry. 61
29801221 2018
Resilience as a moderator between syndemics and depression in mothers living with HIV. 61
29499626 2018

Variations for Sacral Agenesis with Vertebral Anomalies

ClinVar genetic disease variations for Sacral Agenesis with Vertebral Anomalies:

# Gene Name Type Significance ClinVarId dbSNP ID Position
1 TBXT NM_003181.3(TBXT):c.512A>G (p.His171Arg) SNV Pathogenic 126564 rs587777303 GRCh37: 6:166579288-166579288
GRCh38: 6:166165800-166165800
2 TBXT NM_001366285.2(TBXT):c.466G>T (p.Gly156Cys) SNV Uncertain significance 1030636 GRCh37: 6:166580085-166580085
GRCh38: 6:166166597-166166597

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

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

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

9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
31 HPO
32 ICD10
33 ICD10 via Orphanet
37 LifeMap
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
69 Tocris
71 UMLS via Orphanet
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