SPAR
MCID: SPS226
MIFTS: 37

Spastic Paraplegia, Ataxia, and Mental Retardation (SPAR)

Categories: Mental diseases, Neuronal diseases
Data Licensing
For inquiries, contact:

Aliases & Classifications for Spastic Paraplegia, Ataxia, and Mental Retardation

MalaCards integrated aliases for Spastic Paraplegia, Ataxia, and Mental Retardation:

Name: Spastic Paraplegia, Ataxia, and Mental Retardation 57 71
Spar 57 75
Spare 16

Characteristics:


Inheritance:

Autosomal dominant 57

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
highly variable phenotype


Classifications:



Summaries for Spastic Paraplegia, Ataxia, and Mental Retardation

MalaCards based summary: Spastic Paraplegia, Ataxia, and Mental Retardation, also known as spar, is related to tracheopathia osteoplastica and fundus albipunctatus, and has symptoms including ataxia and urgency of micturition. The drugs Amiloride and Spironolactone have been mentioned in the context of this disorder. Affiliated tissues include prostate, spinal cord and lymph node, and related phenotypes are intellectual disability and hyperreflexia

More information from OMIM: 607565

Related Diseases for Spastic Paraplegia, Ataxia, and Mental Retardation

Diseases related to Spastic Paraplegia, Ataxia, and Mental Retardation via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 270)
# Related Disease Score Top Affiliating Genes
1 tracheopathia osteoplastica 11.1
2 fundus albipunctatus 11.0
3 primary cutaneous diffuse large b-cell lymphoma, leg type 11.0
4 systemic scleroderma 10.2
5 bladder cancer 10.1
6 head and neck cancer 10.1
7 parkinson disease, late-onset 10.0
8 brain cancer 10.0
9 neurodegeneration with brain iron accumulation 2a 10.0
10 toxic encephalopathy 10.0
11 prostate cancer 10.0
12 varicose veins 10.0
13 aging 10.0
14 leukemia, acute myeloid 10.0
15 prostate cancer, hereditary, 8 10.0
16 human immunodeficiency virus type 1 10.0
17 prostate cancer, hereditary, 6 10.0
18 tatton-brown-rahman syndrome 10.0
19 amnestic disorder 10.0
20 hemiplegia 10.0
21 severe acute respiratory syndrome 10.0
22 glioblastoma 10.0
23 liver cirrhosis 10.0
24 neuroblastoma 10.0
25 chronic bilirubin encephalopathy 10.0
26 alzheimer disease, familial, 1 9.9
27 huntington disease 9.9
28 medulloblastoma 9.9
29 aplasia of lacrimal and salivary glands 9.9
30 temporal arteritis 9.9
31 thyroid cancer, nonmedullary, 1 9.9
32 down syndrome 9.9
33 hypothyroidism, congenital, nongoitrous, 2 9.9
34 osteogenic sarcoma 9.9
35 rhabdomyosarcoma 2 9.9
36 congenital hemidysplasia with ichthyosiform erythroderma and limb defects 9.9
37 macular degeneration, age-related, 1 9.9
38 cervical cancer 9.9
39 pulmonary disease, chronic obstructive 9.9
40 endometrial cancer 9.9
41 hypothyroidism, congenital, nongoitrous, 3 9.9
42 microvascular complications of diabetes 5 9.9
43 aortic valve disease 2 9.9
44 atrial fibrillation 9.9
45 covid-19 9.9
46 osteonecrosis 9.9
47 respiratory failure 9.9
48 carotid stenosis 9.9
49 anus cancer 9.9
50 dumping syndrome 9.9

Graphical network of the top 20 diseases related to Spastic Paraplegia, Ataxia, and Mental Retardation:



Diseases related to Spastic Paraplegia, Ataxia, and Mental Retardation

Symptoms & Phenotypes for Spastic Paraplegia, Ataxia, and Mental Retardation

Human phenotypes related to Spastic Paraplegia, Ataxia, and Mental Retardation:

30 (show all 17)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 30 HP:0001249
2 hyperreflexia 30 HP:0001347
3 abnormality of eye movement 30 HP:0000496
4 ataxia 30 HP:0001251
5 dysarthria 30 HP:0001260
6 dystonia 30 HP:0001332
7 spastic paraplegia 30 HP:0001258
8 babinski sign 30 HP:0003487
9 cerebellar atrophy 30 HP:0001272
10 spastic gait 30 HP:0002064
11 ankle clonus 30 HP:0011448
12 urinary incontinence 30 HP:0000020
13 urinary urgency 30 HP:0000012
14 urinary bladder sphincter dysfunction 30 HP:0002839
15 lower limb muscle weakness 30 HP:0007340
16 impaired vibration sensation in the lower limbs 30 HP:0002166
17 knee clonus 30 HP:0011449

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Neurologic Central Nervous System:
hyperreflexia
ataxia
dysarthria
dystonia
cerebellar atrophy
more
Head And Neck Eyes:
abnormal extraocular movements

Genitourinary Bladder:
urinary incontinence
urinary urgency
sphincter disturbances

Clinical features from OMIM®:

607565 (Updated 08-Dec-2022)

UMLS symptoms related to Spastic Paraplegia, Ataxia, and Mental Retardation:


ataxia; urgency of micturition

Drugs & Therapeutics for Spastic Paraplegia, Ataxia, and Mental Retardation

Drugs for Spastic Paraplegia, Ataxia, and Mental Retardation (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 36)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Amiloride Approved Phase 4 17440-83-4, 2016-88-8, 2609-46-3 16231
2
Spironolactone Approved Phase 4 1952-01-7, 52-01-7 5833
3 Hormones Phase 4
4 Sodium Channel Blockers Phase 4
5 Hormone Antagonists Phase 4
6 Diuretics, Potassium Sparing Phase 4
7 diuretics Phase 4
8 Mineralocorticoids Phase 4
9 Mineralocorticoid Receptor Antagonists Phase 4
10
Prednisone Approved, Vet_approved Phase 3 53-03-2 5865
11 glucocorticoids Phase 3
12
Nivolumab Approved Phase 2 946414-94-4
13
Ipilimumab Approved Phase 2 477202-00-9
14
Fluorouracil Approved Phase 2 51-21-8 3385
15
Capecitabine Approved, Investigational Phase 2 154361-50-9 60953
16 Antineoplastic Agents, Hormonal Phase 2
17
Abiraterone Acetate Phase 2 154229-18-2 9821849
18 Anti-Inflammatory Agents Phase 2
19 Cytochrome P-450 Enzyme Inhibitors Phase 2
20 Immune Checkpoint Inhibitors Phase 2
21 Antineoplastic Agents, Immunological Phase 2
22
Pregabalin Approved, Investigational 148553-50-8 5486971
23
Fentanyl Approved, Illicit, Investigational, Vet_approved 437-38-7 3345
24
Morphine Approved, Investigational 57-27-2 5288826
25
Temozolomide Approved, Investigational Early Phase 1 85622-93-1 5394
26 Analgesics
27 Anti-Anxiety Agents
28 Psychotropic Drugs
29 Calcium, Dietary
30 Anticonvulsants
31 calcium channel blockers
32 Anesthetics
33 Chrysarobin
34 Alkylating Agents Early Phase 1
35 Antineoplastic Agents, Alkylating Early Phase 1
36
Calcium Nutraceutical 7440-70-2 271

Interventional clinical trials:

(show all 15)
# Name Status NCT ID Phase Drugs
1 SPironolactone Versus Amiloride for Treatment of REsistant Hypertension (SPARE Trial): A Comparison of Home Blood Pressure Recruiting NCT04331691 Phase 4 Spironolactone;Amiloride
2 The Efficacy and Safety of Sanfujiu on Patients With Persistent Allergic Rhinitis: Randomized Controlled Study (SPAR Study) Unknown status NCT02192645 Phase 3 Sanfujiu;Placebo
3 A Randomized, Double-Blind, Placebo-Controlled, Parallel Group Study to Evaluate the Efficacy of Tocilizumab as a Remission-Induction and Glucocorticoid-Sparing Regimen in Subjects With New-Onset Polymyalgia Rheumatica (PMR- SPARE) Completed NCT03263715 Phase 3 Tocilizumab Prefilled Syringe [Actemra];Placebos;Glucocorticoids
4 ESO-SPARE: Esophagus Sparring Radiotherapy for Thoracic and Cervical Metastatic Spinal Cord Compression. A Randomized Phase III Trial. Recruiting NCT05109819 Phase 3
5 Randomized Phase-II Trial of Abiraterone Acetate Plus LHRH-therapy Versus Abiraterone Acetate Sparing LHRH-therapy in Patients With Progressive Chemotherapy-naïve Castration-resistant Prostate Cancer (SPARE) Completed NCT02077634 Phase 2 abiraterone acetate + prednisone + LHRH-therapy;abiraterone acetate + prednisone
6 A Phase 2 Clinical Study to Assess Efficacy of Induction Ipilimumab/Nivolumab to Spare the Bladder in Urothelial Bladder Cancer Active, not recruiting NCT05200988 Phase 2 Ipilimumab + nivolumab
7 Stereotactic Pelvic Brachytherapy With HDR Boost for Dose Escalation in High Tier Intermediate and High Risk Prostate Cancer (SPARE) Unknown status NCT04236752
8 Using of the Skin as a Third Spare Kidney for Patients With Chronic Renal Failure Unknown status NCT03810989
9 Peri-incisional Pregabalin for Postoperative Pain Attenuation and Analgesics Spare in Elective Neurosurgical Patients: A Randomized, Comparative, Placebo-controlled, Double Blind Study Unknown status NCT01612832 Pregabalin
10 Pre- vs. Post-incisional Pregabalin for Postoperative Pain Attenuation and Analgesics Spare in Orthopedic Oncologic Patients: A Comparative, Randomized, Double Blind Study Protocol Unknown status NCT01359059 Pregabalin
11 Semaglutide in Patients With Type 2 Diabetes: Real-world Analysis in the Canadian LMC Diabetes Registry: The SPARE Study Completed NCT04175665 Semaglutide
12 Estimation of Plasma Levels of MicroRNA 125b-5p and Transvaginal Ultrasonography May Spare Laparoscopy for Staging of Endometriosis Completed NCT05556213
13 Single Center, Phase II Study of Whole Brain Radiation Using IMRT to Spare the Hippocampus While Delivering Differential Doses to Subclinical Sites Versus Gross Disease for Treatment of Patients With Brain Metastases Completed NCT02753790
14 SPARE-Scalp Preservation and Radiation Plus Alternating Electric Tumor Treatment Field (NovoTTF, Optune) for Patients With Glioblastoma: A Pilot Study Recruiting NCT03477110 Early Phase 1 Temozolomide
15 Rehabilitation of Adolescents Living With Chronic Fatigue. Health and Quality of Life During the Disease, and How to Remain in School and Spare-time Activities. Testing of a Structured Home-based Rehabilitation Program. Terminated NCT04177459

Search NIH Clinical Center for Spastic Paraplegia, Ataxia, and Mental Retardation

Genetic Tests for Spastic Paraplegia, Ataxia, and Mental Retardation

Anatomical Context for Spastic Paraplegia, Ataxia, and Mental Retardation

Organs/tissues related to Spastic Paraplegia, Ataxia, and Mental Retardation:

MalaCards : Prostate, Spinal Cord, Lymph Node, Brain, Breast, Bone Marrow, Kidney

Publications for Spastic Paraplegia, Ataxia, and Mental Retardation

Articles related to Spastic Paraplegia, Ataxia, and Mental Retardation:

(show top 50) (show all 7655)
# Title Authors PMID Year
1
Spastic paraplegia, ataxia, mental retardation (SPAR): a novel genetic disorder. 62 57
11839840 2002
2
Neonatal Dubin-Johnson Syndrome and its Differentiation from Biliary Atresia. 62
36406324 2023
3
Based on 2-(difluoromethyl)-1-[4,6-di(4-morpholinyl)-1,3,5-triazin-2-yl]-1H-benzimidazole (ZSTK474), design, synthesis and biological evaluation of novel PI3Kα selective inhibitors. 62
36343598 2023
4
Advances in Regenerative Medicine and Biomaterials. 62
36301474 2023
5
Exploring oxidative stress and endothelial dysfunction as a mechanism linking bisphenol S exposure to vascular disease in human umbilical vein endothelial cells and a mouse model of postnatal exposure. 62
36335898 2022
6
At-home blood self-sampling in rheumatology: a qualitative study with patients and health care professionals. 62
36461025 2022
7
Can magnetic resonance imaging replace conventional computerized tomography for follow-up of patients with testicular cancer? A systematic review. 62
35037965 2022
8
Focal cavity radiotherapy after neurosurgical resection of brain metastases: sparing neurotoxicity without compromising locoregional control. 62
36149437 2022
9
Mitochondrial redox impairment and enhanced autophagy in peripheral blood mononuclear cells from type 1 diabetic patients. 62
36455476 2022
10
Unveiling the antibody-drug conjugates portfolio in battling Triple-negative breast cancer: Therapeutic trends and Future horizon. 62
36456774 2022
11
A nexus study of carbon emissions and financial development in China using the decoupling analysis. 62
35831650 2022
12
Detrimental effects of transient cerebral ischemia on middle cerebral artery mitochondria in female rats. 62
36367688 2022
13
Application of a Bayesian network to quantify human reliability in nuclear power plants based on the SPAR-H method. 62
34989657 2022
14
Oil-palm farms that spare rainforests menace grasslands instead. 62
36456819 2022
15
Simplified PADUA REnal (SPARE) Nephrometry System can Describe the Surgical Difficulty of Renal Masses With High Accuracy Even Without 3D Renal Models. 62
36206826 2022
16
Site-specific concordance of targeted and systematic biopsy cores at the index lesion on multiparametric magnetic resonance: can we spare the double-tap? 62
36471133 2022
17
Spare part's free contralateral medial plantar flap for emergency reconstruction in a bilateral lower legs ballistic trauma. 62
36463025 2022
18
Surgical placement of third molars to replace other teeth: “spare wheels” 62
36444738 2022
19
Intraoperative "Spare Parts": A Novel High-fidelity Suturing Model for Trainees. 62
36337433 2022
20
Spare the Bowel, Don't Spoil the Target: Optimal Margin Assessment for Online Cone Beam Adaptive Radiation Therapy (OnC-ART) of the Cervix. 62
36356834 2022
21
Magnetic Resonance-Guided Focused Ultrasound Thalamotomy May Spare Dopaminergic Therapy in Early-Stage Tremor-Dominant Parkinson's Disease: A Pilot Study. 62
36036203 2022
22
To spare or not to spare rib: A survey on internal mammary vessel preparation in microsurgical breast reconstruction. 62
36172931 2022
23
Whorling-sclerosing meningioma invading skull bone and subcutaneous tissue with an incidental toxoplasmosis: A case report. 62
36377372 2022
24
The impact of robotic-assisted transperineal biopsy of the prostate on erectile function. 62
36427333 2022
25
A strategy for varices screening based on acoustic radiation force impulse combined with platelet (CHESS2001): An alternative of Baveno VI criteria. 62
36121707 2022
26
The Effects of Preserving the Diaphragm on Early and Late Outcome of Lung-Sparing Radical Surgery for Malignant Pleural Mesothelioma. 62
36431316 2022
27
Spot scanning proton arc therapy reduces toxicity in oropharyngeal cancer patients. 62
36373893 2022
28
In silico design of a TLR4-mediating multiepitope chimeric vaccine against amyotrophic lateral sclerosis via advanced immunoinformatics. 62
35707959 2022
29
Granulomatous myopathy: Sarcoidosis and beyond. 62
36352751 2022
30
Cytological diagnosis of olfactory neuroblastoma at metastatic sites, with emphasis on role of insulinoma-associated protein 1 immunocytochemistry. 62
36369994 2022
31
Conservative axillary surgery is emerging in the surgical management of breast cancer. 62
36342647 2022
32
Deep learning-based motion compensation for four-dimensional cone-beam computed tomography (4D-CBCT) reconstruction. 62
36412165 2022
33
From Deutsche Zeitschrift to International Journal of Legal Medicine-100 years of legal medicine through the lens of journal articles : Part 1: Deutsche Zeitschrift für die gesamte gerichtliche Medizin from 1922 to 1944. 62
36178518 2022
34
Chemical acylation of an acquired serine suppresses oncogenic signaling of K-Ras(G12S). 62
35864332 2022
35
[Differences in Area Specific Life Satisfaction Between East and West Germans in the Years 1991, 2006 and 2020]. 62
36323333 2022
36
Radical Production with Pulsed Beams: Understanding the Transition to FLASH. 62
36362271 2022
37
The SWGEDWGEIW from Soybean Peptides Reduce Oxidative Damage-Mediated Apoptosis in PC-12 Cells by Activating SIRT3/FOXO3a Signaling Pathway. 62
36364437 2022
38
Optimizing Unilateral Deep Inferior Epigastric Perforator Flap Breast Reconstruction: A Quality Improvement Study. 62
36036719 2022
39
Peripheral visual field loss and activities of daily living. 62
36409221 2022
40
Improvement of the aerodynamic behavior of a sport utility vehicle numerically by using some modifications and aerodynamic devices. 62
36434018 2022
41
[Endobronchial Foreign Bodies Telling Readable Stories]. 62
36379448 2022
42
Antibody-Drug Conjugates Targeting Tumor-Specific Mucin Glycoepitopes. 62
36472102 2022
43
Intensity-modulated radiation therapy - you can have your cake and eat it too! 62
36377546 2022
44
Development of a multiplex assay for detection of autosomal and Y-chromosomal STRs, assessment of the degradation state of mitochondrial DNA and presence of mitochondrial length heteroplasmies. 62
36137414 2022
45
Functional metabolic capacity of pig colonocytes is differentially modulated by fermentable fibre and poorly digestible protein. 62
36265188 2022
46
Melatonin controls cell proliferation and modulates mitochondrial physiology in pancreatic stellate cells. 62
36334253 2022
47
Subnational implications from climate and air pollution policies in India's electricity sector. 62
36356126 2022
48
A Narrative Review of the Uses of Ultrasound in the Evaluation, Analgesia, and Treatment of Distal Forearm Fractures. 62
36351851 2022
49
Comparison of CT and MRI for contouring active bone marrow in bone marrow sparing IMRT of carcinoma cervix and its effects on functional outcomes. 62
36208526 2022
50
Childhood interstitial lung disease more prevalent in infancy: a practical review. 62
35501606 2022

Variations for Spastic Paraplegia, Ataxia, and Mental Retardation

Expression for Spastic Paraplegia, Ataxia, and Mental Retardation

Search GEO for disease gene expression data for Spastic Paraplegia, Ataxia, and Mental Retardation.

Pathways for Spastic Paraplegia, Ataxia, and Mental Retardation

GO Terms for Spastic Paraplegia, Ataxia, and Mental Retardation

Sources for Spastic Paraplegia, Ataxia, and Mental Retardation

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....