SAVA
MCID: SCR035
MIFTS: 38

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 56 73 36 29 6 39 71
Spinal Diseases 43 71
Sava 56 73
Sacral Agenesis-Abnormal Ossification of the Vertebral Bodies-Persistent Notochordal Canal Syndrome 58

Characteristics:

Orphanet epidemiological data:

58
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:

56
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:

Orphanet: 58  
Rare neurological diseases
Developmental anomalies during embryogenesis


External Ids:

OMIM 56 615709
KEGG 36 H02324
MeSH 43 D013122
ICD10 via Orphanet 33 Q87.5
Orphanet 58 ORPHA397927
UMLS 71 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 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). The drugs Buprenorphine and Norepinephrine have been mentioned in the context of this disorder. Affiliated tissues include bone, testes and spinal cord, and related phenotypes are abnormal vertebral morphology and absence of the sacrum

UniProtKB/Swiss-Prot : 73 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 134)
# Related Disease Score Top Affiliating Genes
1 spinal disease 12.5
2 substance abuse 10.4
3 papillomatosis, confluent and reticulated 10.3
4 varicose veins 10.3
5 cataract 10.3
6 back pain 10.2
7 inflammatory spondylopathy 10.1
8 spondylitis 10.1
9 spinal stenosis 10.1
10 arteries, anomalies of 10.1
11 multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly 10.1
12 yemenite deaf-blind hypopigmentation syndrome 10.1
13 autoimmune lymphoproliferative syndrome 10.1
14 hyperlipoproteinemia, type iii 10.1
15 lipoprotein quantitative trait locus 10.1
16 hypospadias 10.1
17 duodenal ulcer 10.1
18 spondyloarthropathy 1 10.1
19 scoliosis 10.0
20 spondylolisthesis 10.0
21 spondylosis 10.0
22 radiculopathy 9.9
23 anemia, x-linked, with or without neutropenia and/or platelet abnormalities 9.8
24 deficiency anemia 9.8
25 hyperostosis 9.8
26 myelitis 9.8
27 pernicious anemia 9.7
28 intervertebral disc disease 9.7
29 enthesopathy 9.7
30 spondylolysis 9.7
31 paraplegia 9.7
32 degenerative disc disease 9.7
33 chronic pain 9.7
34 lipomatosis, multiple 9.7
35 scheuermann disease 9.7
36 spinal arachnoiditis 9.7
37 arachnoid cysts, intracranial 9.7
38 myeloma, multiple 9.7
39 meningioma, radiation-induced 9.7
40 meningioma, familial 9.7
41 idiopathic scoliosis 9.7
42 covid-19 9.7
43 osteomyelitis 9.7
44 pleomorphic lipoma 9.7
45 arteriovenous malformation 9.7
46 spinal meningioma 9.7
47 arachnoiditis 9.7
48 exostosis 9.7
49 plasmacytoma 9.7
50 arthropathy 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:

31
# 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:

56
Skeletal Spine:
sacral agenesis
vertical clefting of the vertebral bodies
persistent notochordal canal
defective ossification of the vertebral bodies

Clinical features from OMIM:

615709

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 99)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Buprenorphine Approved, Illicit, Investigational, Vet_approved Phase 4 52485-79-7 40400 644073
2
Norepinephrine Approved Phase 4 51-41-2 439260
3
Levomilnacipran Approved, Investigational Phase 4 96847-54-0
4
Milnacipran Approved, Investigational Phase 4 92623-85-3 65833
5
Oxycodone Approved, Illicit, Investigational Phase 4 76-42-6 5284603
6
Naloxone Approved, Vet_approved Phase 4 465-65-6 5284596
7
tannic acid Approved Phase 4 1401-55-4
8
Benzocaine Approved, Investigational Phase 4 94-09-7, 1994-09-7 2337
9
Dexmedetomidine Approved, Vet_approved Phase 4 113775-47-6 5311068 68602
10
Rocuronium Approved Phase 4 119302-91-9, 143558-00-3 441290
11
Ropivacaine Approved Phase 4 84057-95-4 71273 175805
12
Magnesium Sulfate Approved, Investigational, Vet_approved Phase 4 7487-88-9 24083
13
Tramadol Approved, Investigational Phase 4 27203-92-5 33741
14 Anti-Arrhythmia Agents Phase 4
15 Hormones Phase 4
16 Calcium, Dietary Phase 4
17 Narcotic Antagonists Phase 4
18 Antidepressive Agents Phase 4
19 Psychotropic Drugs Phase 4
20 Serotonin and Noradrenaline Reuptake Inhibitors Phase 4
21 Tocolytic Agents Phase 4
22 Anticonvulsants Phase 4
23 calcium channel blockers Phase 4
24 Pharmaceutical Solutions Phase 4
25 Anesthetics Phase 4
26 Anesthetics, Local Phase 4
27 Adrenergic alpha-Agonists Phase 4
28 Hypnotics and Sedatives Phase 4
29 Adrenergic Agents Phase 4
30 Analgesics, Non-Narcotic Phase 4
31 Analgesics Phase 4
32 Adrenergic Agonists Phase 4
33 Neurotransmitter Agents Phase 4
34 Narcotics Phase 4
35 Analgesics, Opioid Phase 4
36 Neuromuscular Blocking Agents Phase 4
37
Calcium Nutraceutical Phase 4 7440-70-2 271
38
Serotonin Investigational, Nutraceutical Phase 4 50-67-9 5202
39
Etanercept Approved, Investigational Phase 2, Phase 3 185243-69-0
40
Adalimumab Approved Phase 3 331731-18-1 16219006
41
Certolizumab pegol Approved Phase 3 428863-50-7
42
Hyaluronic acid Approved, Vet_approved Phase 3 9004-61-9 53477741
43 Gastrointestinal Agents Phase 2, Phase 3
44 Immunosuppressive Agents Phase 3
45 Immunologic Factors Phase 3
46 Adjuvants, Immunologic Phase 3
47 Viscosupplements Phase 3
48 Protective Agents Phase 3
49
Mepivacaine Approved, Vet_approved Phase 1, Phase 2 96-88-8 4062
50
Propranolol Approved, Investigational Phase 2 525-66-6 4946

Interventional clinical trials:

(show top 50) (show all 171)
# Name Status NCT ID Phase Drugs
1 The Effect of Perioperative Lidocaine Intravenous Infusion on Postoperative Recovery After Spine Surgery. Unknown status NCT02762656 Phase 4 Lidocaine
2 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
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 A Multi-center, Post Marketing Surveillance Study to Monitor the Safety and Performance of the Barricaid® ARD in the Treatment of Back and Radicular Pain Caused by Primary Lumbar Disc Herniation Completed NCT01534065 Phase 4
5 Ultrasound Guided Modified Thoracolumbar Interfascial Plane Block for Spinal Surgery: A New Approach Completed NCT03079076 Phase 4 Bupivacaine;Saline
6 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
7 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
8 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
9 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
10 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
11 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
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 Deep Versus Moderate Neuromuscular Blockade for Optimising Surgical Conditions Include Patient Benefits During Spinal Surgery: A Randomized Controlled Double Blinded Clinical Study Recruiting NCT02778945 Phase 4 Rocuronium 0.9 mg/kg;Rocuronium 0.6 mg/kg
15 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
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 Multicenter, Open-label Study of SI 6603 in Patients With Lumbar Disc Herniation (Phase III) Completed NCT02421601 Phase 3 Condoliase
21 A Study of SI-6603 in Patients With Lumbar Disc Herniation Completed NCT01941563 Phase 3 Condoliase;placebo
22 Neurosurgery Patient Outcomes in Treating Spinal Disorders Completed NCT01220921 Phase 3
23 "A Prospective, Randomized Controlled Clinical Investigation of MAVERICK™ Total Disc Replacement in Patients With Degenerative Disc Disease" Completed NCT00635843 Phase 3
24 A Multicenter, Open-label (Part A) Followed by a Randomized, Double-blind, Parallel-group, Placebo Controlled Study (Part B) to Evaluate Maintenance of Remission in Subjects With Active Axial Spondyloarthritis (axSpA) Receiving Either Certolizumab Pegol 200 mg Q2W or 200 mg Q4W as Compared to Placebo Completed NCT02505542 Phase 3
25 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
26 The Value of Traction in Treatment of Lumbar Radiculopathy. Completed NCT00942227 Phase 3
27 A Multicenter, Randomized, Double-Blind, Study Comparing the Efficacy and Safety of Continuing Versus Withdrawing Adalimumab Therapy in Maintaining Remission in Subjects With Non-Radiographic Axial Spondyloarthritis Completed NCT01808118 Phase 3
28 The Value of Mechanical Traction in the Treatment of Cervical Radiculopathy Completed NCT00979108 Phase 3
29 Phase 3, Multicenter, Randomized, Placebo-Controlled, Double-Blind Study to Evaluate Efficacy and Safety of Certolizumab Pegol in Subjects With Active Axial Spondyloarthritis (axSpA) Without X-Ray Evidence of Ankylosing Spondylitis (AS) and Objective Signs of Inflammation Active, not recruiting NCT02552212 Phase 3
30 A Prospective, Multicenter, Randomized, Double-blind, Placebo-controlled Study to Evaluate the Efficacy and Safety of a Single Injection of Rexlemestrocel-L Alone or Combined With Hyaluronic Acid (HA) in Subjects With Chronic Low Back Pain Active, not recruiting NCT02412735 Phase 3 rexlemestrocel-L;rexlemestrocel-L + HA;Placebo
31 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
32 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
33 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
34 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
35 Analgesic Effects of Perioperative Propranolol Administration for Spine Surgery Not yet recruiting NCT04421209 Phase 2 Propranolol Hcl 40mg Tab;Placebo oral tablet
36 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
37 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
38 Lumbar Degenerative Disc Disease Treatment With Bone Marrow Autologous Mesenchymal Stem Cells (MSV) Withdrawn NCT02440074 Phase 1, Phase 2
39 Molecular Imaging Modality by Positron Emission Tomography Using 18F-X : Study of Microglial Activation in Amyotrophic Lateral Sclerosis Unknown status NCT00563537 Phase 1
40 Selective Intra-arterial Chemotherapy in the Treatment Strategy of Metastatic Spinal Disease Completed NCT01637766 Phase 1 Melphalan (intra-arterial infusion)
41 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
42 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
43 The Prone XLIF. An Observational Pilot Study Based on Prospective Study Unknown status NCT03509389
44 Proprioception and Eye-head Coordination for the Cervical Spine Unknown status NCT00172237
45 Freedom® Cervical Disc Use In The Treatment of Cervical Degenerative Disc Disease Unknown status NCT01763619
46 Establishing a Descriptive Cohort of Patients Cared for Operation on the Spine Unknown status NCT02886260
47 An IDE Study of the Freedom Lumbar Disc in the Treatment of Lumbar Degenerative Disc Disease Unknown status NCT00775801
48 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
49 National Neurosurgical and Orthopedic Optimum Care Continuum Spine Registry Exposure for Various Implants/Products Unknown status NCT02187666
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:

40
Bone, Testes, Spinal Cord, Bone Marrow, Eye, Brain, B Cells

Publications for Sacral Agenesis with Vertebral Anomalies

Articles related to Sacral Agenesis with Vertebral Anomalies:

(show top 50) (show all 203)
# Title Authors PMID Year
1
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. 56 6
24253444 2014
2
Examination of degradation and ecotoxicology of pethoxamid and metazachlor after chlorine dioxide treatment. 61
32519186 2020
3
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
4
Epidemiologic and Epizootic Data of Tularemia in the Past and in the Recent History in Croatia. 61
32408663 2020
5
Evaluation of azamethiphos and dimethoate degradation using chlorine dioxide during water treatment. 61
32399889 2020
6
Impact of reservoir properties on elemental accumulation and histopathology of European perch (Perca fluviatilis). 61
31812045 2020
7
Achieving self-sustainability of service delivery in an eye care program in Madagascar using time-driven activity based costing. 61
32164713 2020
8
Structural and syndemic barriers to PrEP adoption among Black women at high risk for HIV: a qualitative exploration. 61
32212993 2020
9
Risk assessment of using fish from different types of reservoirs as human food - A study on European perch (Perca fluviatilis). 61
31733974 2020
10
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
11
Back to basics: Gaps in baseline data call for revisiting an environmental education program in the SAVA region, Madagascar. 61
32315367 2020
12
Evaluation of Salix alba, Juglans regia and Populus nigra as biomonitors of PTEs in the riparian soils of the Sava River. 61
31965342 2020
13
Gendered syndemic of intimate partner violence, alcohol misuse, and HIV risk among peri-urban, heterosexual men in South Africa. 61
31708236 2019
14
New Myxophagan water beetles from Madagascar (Coleoptera: Torridincolidae, Hydroscaphidae). 61
31716796 2019
15
Radon-based atmospheric stability classification in contrasting sub-Alpine and sub-Mediterranean environments. 61
30901740 2019
16
Pollution from azithromycin-manufacturing promotes macrolide-resistance gene propagation and induces spatial and seasonal bacterial community shifts in receiving river sediments. 61
30622075 2019
17
Hydrological system behaviour of an alluvial aquifer under climate change. 61
30308889 2019
18
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
19
Impact and mitigation of global change on freshwater-related ecosystem services in Southern Europe. 61
30266055 2019
20
Potentially toxic elements in muscle tissue of different fish species from the Sava River and risk assessment for consumers. 61
30308870 2019
21
The occurrence of contaminants of emerging concern in Slovenian and Croatian wastewaters and receiving Sava river. 61
30293000 2019
22
Levels of regulated POPs in fish samples from the Sava River Basin. Comparison to legislated quality standard values. 61
30077159 2019
23
A Longitudinal Analysis of the Substance Abuse, Violence, and HIV/AIDS (SAVA) Syndemic among Women in the Criminal Justice System. 61
30626264 2019
24
Particle bound pollutants in rivers: Results from suspended sediment sampling in Globaqua River Basins. 61
30092520 2019
25
Assessment of river sediment toxicity: Combining empirical zebrafish embryotoxicity testing with in silico toxicity characterization. 61
29945079 2018
26
Occurrence of C60 and related fullerenes in the Sava River under different hydrologic conditions. 61
30189528 2018
27
Resilience as a moderator between syndemics and depression in mothers living with HIV. 61
29499626 2018
28
Determination of hexavalent Cr in river sediments by speciated isotope dilution inductively coupled plasma mass spectrometry. 61
29801221 2018
29
Altered shapes, same people: Scaphocephaly in the early modern Bucharest. 61
30139618 2018
30
Deriving spatially explicit water uses from land use change modelling results in four river basins across Europe. 61
30045531 2018
31
Occurrence of Clostridium difficile infections in Serbia and high proportion of PCR ribotype 027 strains in two hospitals in Belgrade. 61
29627510 2018
32
Emerging human pathogen Acinetobacter baumannii in the natural aquatic environment: a public health risk? 61
29737189 2018
33
The syndemic effect of injection drug use, intimate partner violence, and HIV on mental health among drug-involved women in Kazakhstan. 61
30364672 2018
34
On-line solid phase extraction-liquid chromatography-tandem mass spectrometry for insect repellent residue analysis in surface waters using atmospheric pressure photoionization. 61
29502900 2018
35
Impact of intimate partner violence on clinic attendance, viral suppression and CD4 cell count of women living with HIV in an urban clinic setting. 61
29397777 2018
36
Prior Exposure to Intimate Partner Violence Associated With Less HIV Testing Among Young Women. 61
29651922 2018
37
The potential of chironomid larvae-based metrics in the bioassessment of non-wadeable rivers. 61
29127801 2018
38
Uncertainty of modelled flow regime for flow-ecological assessment in Southern Europe. 61
29751407 2018
39
Data-driven analysis of nutrient inputs and transfers through nested catchments. 61
28820979 2018
40
Variation in Antiosteoporotic Drug Prescribing and Spending Across Spain. A Population-Based Ecological Cross-Sectional Study. 61
29706889 2018
41
Driver detection of water quality trends in three large European river basins. 61
28846904 2018
42
Substance Use, Victimization, HIV/AIDS Risk, And Recidivism Among Females in A Therapeutic Justice Program. 61
30930687 2018
43
Potentially toxic elements in water and sediments of the Sava River under extreme flow events. 61
28686993 2017
44
Contribution to the improvement of diatom-based assessments of the ecological status of large rivers - The Sava River Case Study. 61
28686991 2017
45
Modelling sediment fluxes in the Danube River Basin with SWAT. 61
28505891 2017
46
Development of an analytical method for the determination of polybrominated diphenyl ethers in mussels and fish by gas chromatography-Inductively coupled plasma mass spectrometry. 61
28987532 2017
47
Hydraenidae of Madagascar (Insecta: Coleoptera). 61
29245658 2017
48
Perspectives on HIV Testing Among WIC-Enrolled Postpartum Women: Implications for Intervention Development. 61
29068716 2017
49
Current radiological situation in Slavonski Brod, Croatia: is there a reason for concern? 61
28976880 2017
50
Bactericidal activity of Cu-, Zn-, and Ag-containing zeolites toward Escherichia coli isolates. 61
28702914 2017

Variations for Sacral Agenesis with Vertebral Anomalies

ClinVar genetic disease variations for Sacral Agenesis with Vertebral Anomalies:

6 ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 TBXT NM_003181.3(TBXT):c.512A>G (p.His171Arg)SNV Pathogenic 126564 rs587777303 6:166579288-166579288 6:166165800-166165800

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

73
# 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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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