SPS
MCID: STF001
MIFTS: 60

Stiff-Person Syndrome (SPS) malady

Neuronal diseases, Endocrine diseases categories

Summaries for Stiff-Person Syndrome

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8Disease Ontology, 42NIH Rare Diseases, 43NINDS, 63Wikipedia, 46OMIM, 32MalaCards
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NINDS:43 Stiff-person syndrome (SPS) is a rare neurological disorder with features of an autoimmune disease. SPS is characterized by fluctuating muscle rigidity in the trunk and limbs and a heightened sensitivity to stimuli such as noise, touch, and emotional distress, which can set off muscle spasms. Abnormal postures, often hunched over and stiffened, are characteristic of the disorder. People with SPS can be too disabled to walk or move, or they are afraid to leave the house because street noises, such as the sound of a horn, can trigger spasms and falls. SPS affects twice as many women as men. It is frequently associated with other autoimmune diseases such as diabetes, thyroiditis, vitiligo, and pernicious anemia. Scientists don?t yet understand what causes SPS, but research indicates that it is the result of an autoimmune response gone awry in the brain and spinal cord. The disorder is often misdiagnosed as Parkinson?s disease, multiple sclerosis, fibromyalgia, psychosomatic illness, or anxiety and phobia. A definitive diagnosis can be made with a blood test that measures the level of glutamic acid decarboxylase (GAD) antibodies in the blood. People with SPS have elevated levels of GAD, an antibody that works against an enzyme involved in the synthesis of an important neurotransmitter in the brain.

MalaCards: Stiff-Person Syndrome, also known as stiff person syndrome, is related to cerebellar ataxia and encephalomyelitis. An important gene associated with Stiff-Person Syndrome is GLRA1 (glycine receptor, alpha 1), and among its related pathways are GABA A receptor activation and GABA synthesis. The compounds cyanotriphenylborate and bilobalide have been mentioned in the context of this disorder. Affiliated tissues include thyroid, spinal cord and bone, and related mouse phenotypes are endocrine/exocrine gland and nervous system.

Disease Ontology:8 A movement disease that is of unknown etiology characterized by progressive rigidity.

NIH Rare Diseases:42 Stiff person syndrome is a rare neurological disorder with features of an autoimmune disease. it affects twice as many women as men. it is frequently associated with other autoimmune diseases such as diabetes, thyroiditis, vitiligo, and pernicious anemia.  symptoms may include muscle stiffness in the trunk and limbs, heightened sensitivity to noise and touch, and emotional distress which can set off muscle spasms and cause falls. treatment may involve high-dose diazepam, anti-convulsants, or intravenous immunoglobulin. last updated: 3/15/2011

Wikipedia:63 Stiff person syndrome (SPS) is a rare neurologic disorder of unclear etiology characterized by... more...

Description from OMIM:46 184850

Aliases & Classifications for Stiff-Person Syndrome

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Sources:
8Disease Ontology, 42NIH Rare Diseases, 43NINDS, 10DISEASES, 44Novoseek, 48Orphanet, 46OMIM, 60UMLS, 39NCIt, 56SNOMED-CT, 34MeSH, 27ICD9CM, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Neuronal diseases, Endocrine diseases


Characteristics (Orphanet epidemiological data):

48
stiff person syndrome:
Prevalence: 1-9/1000000; Age of onset: Adulthood; Age of death: Normal


Aliases & Descriptions:

stiff-person syndrome 8 43 10 60
stiff person syndrome 42 48 46
stiff man syndrome 8 42 48
stiff-man syndrome 8 44
sps 42 48
moersch-woltman syndrome 48
morsch woltman syndrome 42


External Ids:

Disease Ontology8 DOID:13366
NCIt39 C85170
MeSH34 D016750
ICD9CM27 333.91
SNOMED-CT56 5217008
OMIM46 184850
ICD10 via Orphanet26 G25.8
SNOMED-CT via Orphanet57 5217008

Related Diseases for Stiff-Person Syndrome

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17GeneCards, 18GeneDecks
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Diseases related to Stiff-Person Syndrome via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 297)
idRelated DiseaseScoreTop Affiliating Genes
1cerebellar ataxia30.5GAD2, DPYSL5
2encephalomyelitis30.4GAD1, GAD2
3thyroiditis30.4GAD2
4celiac disease30.3MICA
5graves' disease30.0GAD2, GAD1
6parkinson's disease30.0TH, NDUFB11, GAD2
7neuropathy30.0INS, DPYSL5
8hyperekplexia30.0GPHN, GLRB, GLRA1
9encephalitis30.0GAD2, TSPO, DPYSL5, AMPH
10adenoma29.8INS, TSPO
11neuroblastoma29.6TH
12type 2 diabetes mellitus29.6TH, INS, GAD2, GAD1
13alzheimer's disease29.6GAD1, INS, TSPO, ABAT, TH
14schizophrenia29.6ABAT, GAD1, TH, GAD2, INS, TSPO
15personality disorder10.5
16thymoma10.5
17pneumonia10.4
18breast cancer10.3
19autoimmune thyroiditis10.3
20neuronitis10.3
21spotted fever10.3
22hereditary elliptocytosis10.2
23cerebritis10.2
24cerebellar disease10.2
25dermatitis10.2
26dermatitis herpetiformis10.2
27myasthenia gravis10.2
28type 1 diabetes mellitus10.2
29autoimmune polyendocrine syndrome10.2
30hyperekplexia, hereditary 1, autosomal dominant or recessive10.2
31phaeohyphomycosis10.2
32aspergillosis10.2
33cystic fibrosis10.1
34bacterial vaginosis10.1
35nocardiosis10.1
36invasive aspergillosis10.1
37diarrhea10.1
38vascular cancer10.1
39acute diarrhea10.1
40coccidiosis10.1
41lung adenocarcinoma10.1
42myiasis10.1
43relapsing fever10.1
44scleroderma10.1
45tuberculosis10.1
46deficiency anemia10.0
47generalized anxiety disorder10.0
48non-hodgkin lymphoma10.0
49hepatitis c10.0
50systemic lupus erythematosus10.0

Graphical network of the top 20 diseases related to Stiff-Person Syndrome:



Diseases related to stiff-person syndrome

Clinical Features for Stiff-Person Syndrome

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46OMIM
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Clinical features from OMIM:

184850

Clinical synopsis from OMIM:

184850

Drugs & Therapeutics for Stiff-Person Syndrome

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

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Drug clinical trials:

Search ClinicalTrials for Stiff-Person Syndrome

Search NIH Clinical Center for Stiff-Person Syndrome

Search CenterWatch for Stiff-Person Syndrome

Genetic Tests for Stiff-Person Syndrome

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Anatomical Context for Stiff-Person Syndrome

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32MalaCards
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MalaCards organs/tissues related to Stiff-Person Syndrome:

32
Thyroid, Spinal cord, Bone, Brain, Testes, Breast, T cells, Eye, Cortex, Colon, Lung, Bone marrow, B cells

Animal Models for Stiff-Person Syndrome or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Stiff-Person Syndrome:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053798.5AMPH, GAD2, GAD1, INS, TH, GLRB
2MP:00036317.1INS, GLRA1, GLRB, DPYSL5, GAD1, GAD2
3MP:00053866.5TH, AMPH, GAD2, GAD1, DPYSL5, GLRB

Publications for Stiff-Person Syndrome

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50PubMed
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Articles related to Stiff-Person Syndrome:

(show top 50)    (show all 200)
idTitleAuthorsYear
1
Extremely rare coincidence of non-radiographic axial spondyloarthropathy HLA-B27 positive and Stiff Person Syndrome - rheumatologist point of view. (24289195)
2013
2
Treatment of stiff-person syndrome with chronic plasmapheresis. (23239368)
2013
3
Glycine receptor antibodies in stiff-person syndrome and other GAD-positive CNS disorders. (24174585)
2013
4
Novel use of dual immunomodulation for treating stiff-person syndrome, cerebellar variant. (23839936)
2013
5
Teaching NeuroImages: PET-CT hypermetabolism paralleling muscle hyperactivity in stiff-person syndrome. (23460625)
2013
6
Trialing of intrathecal baclofen therapy for refractory stiff-person syndrome. (23518865)
2013
7
Stiff-person syndrome following tick-borne meningoencephalitis. (22283113)
2011
8
Surviving stiff-person syndrome: a case report. (21442460)
2011
9
Human stiff-person syndrome IgG induces anxious behavior in rats. (21346811)
2011
10
Stiff-person syndrome (SPS) and anti-GAD-related CNS degenerations: protean additions to the autoimmune central neuropathies. (21680149)
2011
11
The occurrence of stiff person syndrome in a patient with thymoma: case report and literature review. (20509396)
2010
12
Urodynamic study alterations in a patient with stiff person syndrome. (20438592)
2010
13
Stiff-person syndrome and other neurological disorders associated with anti-GAD antibodies]. (19828214)
2010
14
Stiff-person syndrome: a case report and review of the literature. (21287911)
2010
15
Intrathecal baclofen pump implantation in a case of stiff person syndrome. (20228478)
2010
16
Stiff-person syndrome and other myelopathies constitute paraneoplastic neurological syndromes]. (20420178)
2010
17
Stiff person syndrome: presentation of a case with repetitive complex discharges in electromiograms. (19590385)
2009
18
Stiff-person syndrome with amphiphysin antibodies: distinctive features of a rare disease. (20018647)
2009
19
Stiff person syndrome associated anti-amphiphysin antibodies reduce GABA associated [Ca(2+)]i rise in embryonic motoneurons. (19631746)
2009
20
Stiff eyes in stiff-person syndrome. (19470975)
2009
21
Successful intrathecal baclofen therapy for seronegative stiff-person syndrome: a case report. (18975523)
2008
22
Levetiracetam for stiff-person syndrome: report of 2 patients. (18836351)
2008
23
Immunobiology of stiff-person syndrome. (18300057)
2008
24
Antibody-phenotype correlation in stiff-person syndrome. (18971446)
2008
25
Stiff-person syndrome. (17445501)
2007
26
A patient with post-traumatic stress disorder developing stiff person syndrome: is there a correlation? (17558259)
2007
27
Stiff-person syndrome with elevated anti-Epstein-Barr virus antibody]. (17710888)
2007
28
Stiff person syndrome (SPS), a basal ganglia disease? Striatal MRI lesions in a patient with SPS. (17507452)
2007
29
Stiff person syndrome: avoiding misdiagnosis. (17385093)
2007
30
Stiff person syndrome with cerebellar disease and high-titer anti-GAD antibodies. (17000981)
2006
31
Eye movement abnormalities in stiff person syndrome. (16275836)
2005
32
Stiff-person syndrome presenting with headache. (15689200)
2005
33
Treatment of stiff person syndrome with rituximab. (15965211)
2005
34
Lupus revealing itself after a stiff-person syndrome. (15119554)
2004
35
Anti-glutamic acid decarboxylase antibodies in the serum and cerebrospinal fluid of patients with stiff-person syndrome: correlation with clinical severity. (15210528)
2004
36
Levetiracetam improves paroxysmal symptoms in a patient with stiff-person syndrome. (14745090)
2004
37
A delayed diagnosis of stiff person syndrome. (15052911)
2004
38
Neuropathology and binding studies in anti-amphiphysin-associated stiff-person syndrome. (12874398)
2003
39
Stiff person syndrome and anesthesia: case report. (12873941)
2003
40
Clinically disparate stiff-person syndrome with GAD65 autoantibody in a father and daughter. (14610143)
2003
41
Stiff-person Syndrome. (12521565)
2003
42
Anaesthetic management of a patient with Stiff-person syndrome. (11966568)
2002
43
Atypical low back pain: stiff-person syndrome. (12027316)
2002
44
High-dose intravenous immune globulin for stiff-person syndrome. (12037158)
2002
45
Stiff person syndrome. (11361276)
2001
46
Stiff person syndrome: quantification, specificity, and intrathecal synthesis of GAD65 antibodies. (11552003)
2001
47
High-dose intravenous immune globulin for stiff-person syndrome. (11756577)
2001
48
Physiologic studies of spinal inhibitory circuits in patients with stiff-person syndrome. (9674784)
1998
49
Stiff-person syndrome with anti-glutamic acid decarboxylase autoantibodies: complete remission of symptoms after intrathecal baclofen administration. (8568521)
1995
50
Stiff-person syndrome: an autoimmune disease. (2005917)
1991

Genetic Variations for Stiff-Person Syndrome

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Expression for genes affiliated with Stiff-Person Syndrome

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Stiff-Person Syndrome

Search GEO for disease gene expression data for Stiff-Person Syndrome.

Pathways for genes affiliated with Stiff-Person Syndrome

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53Reactome, 37NCBI BioSystems Database, 29KEGG, 12EMD Millipore
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Compounds for genes affiliated with Stiff-Person Syndrome

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Sources:
28IUPHAR, 44Novoseek, 11DrugBank, 2BitterDB, 59Tocris Bioscience, 24HMDB, 49PharmGKB
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Compounds related to Stiff-Person Syndrome according to GeneCards/GeneDecks:

(show top 50)    (show all 56)
idCompoundScoreTop Affiliating Genes
1cyanotriphenylborate2810.4GLRB, GLRA1
2bilobalide2810.4GLRB, GLRA1
3ginkgolide x2810.4GLRB, GLRA1
4picrotin2810.4GLRA1, GLRB
5pregnenolone sulphate2810.4GLRA1, GLRB
6tropisetron28 4411.3GLRA1, GLRB
7lindane44 1111.3GLRA1, GLRB
8ibotenic acid4410.3GAD1, TH
9picrotoxinin44 2 2812.3GLRA1, GLRB
10succinic semialdehyde4410.3GAD1, ABAT
11d amphetamine4410.2TH, TSPO
12ginkgolide b44 59 2812.2GLRB, GLRA1, TSPO
13picrotoxin44 28 1112.2GLRB, GLRA1, TSPO
14l-alanine28 59 11 2413.1GLRB, GLRA1, ABAT
15eszopiclone44 1111.1TSPO, INS
16zn2+2810.1GLRB, GLRA1
17baclofen44 1111.1GAD1, ABAT, TSPO
18muscimol44 59 2812.1TSPO, ABAT, GAD1
19gamma-hydroxybutyrate4410.1TSPO, ABAT
20pyridoxal 5-phosphate4410.1GAD2, GAD1, ABAT
21famotidine44 2 11 2413.0GAD2, GAD1, ABAT
22valproate4410.0GAD1, ABAT, TH
23tetrodotoxin44 59 2812.0TH, GAD1, GAD2
24strychnine44 2 2812.0GPHN, GLRA1
25pyridoxal44 11 2412.0GAD1, GAD2
26c-peptide4410.0GAD2, GAD1, INS
27l-glutamic acid28 11 2412.0ABAT, GAD1, GAD2
282-deoxyglucose44 1111.0TSPO, INS, GAD1
29cysteine sulfinic acid4410.0CSAD, GAD2, GAD1
303-Sulfinoalanine11 2411.0GAD1, GAD2, CSAD
31haloperidol44 28 2 49 1113.9GAD1, TH, TSPO
32valproic acid44 49 11 2412.9TSPO, ABAT, GAD1
33diazepam44 49 28 1112.9TSPO, ABAT, GABARAP
34ornithine44 2410.9GAD2, GAD1, ABAT
35mptp449.9GAD2, GAD1, TH, TSPO
36kainate44 2810.8TSPO, TH, GAD1, GAD2
37pterin44 2410.8GPHN, TH
38carbon dioxide44 2410.8CSAD, GAD2, GAD1
39beta-alanine44 59 11 2412.7GAD2, GAD1, GLRB, GLRA1, ABAT
40Pyridoxal Phosphate119.7CSAD, GAD2, GAD1, ABAT
41levodopa44 1110.6GAD2, GAD1, ABAT, TH, TSPO
42hypotaurine59 44 2411.5GLRA1, GLRB, GAD1, GAD2, CSAD
43dopamine44 28 11 2412.5GAD2, GAD1, ABAT, TH, TSPO
44cocaine44 1110.3TSPO, TH, ABAT
45nmda44 2810.3GAD2, GAD1, GLRB, GPHN, TH, TSPO
46taurine44 59 2411.2CSAD, GAD2, GAD1, GLRB, GLRA1, ABAT
47acetylcholine44 49 28 11 2413.2AMPH, GAD2, GAD1, TH, TSPO
48alanine449.0GAD2, GAD1, INS, ABAT, TH
49gaba448.8GAD2, GAD1, GABARAP, GPHN, ABAT, TH
50glutamate447.6AMPH, CSAD, GAD2, GAD1, GLRA1, INS

GO Terms for genes affiliated with Stiff-Person Syndrome

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16Gene Ontology
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Cellular components related to Stiff-Person Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1smooth endoplasmic reticulumGO:0057909.8GABARAP, TH
2clathrin-sculpted gamma-aminobutyric acid transport vesicle membraneGO:0612029.7GAD1, GAD2
3postsynaptic membraneGO:0452118.7GLRB, GPHN, HOMER3, GLRA1
4cell junctionGO:0300548.0AMPH, GAD2, GLRB, GLRA1, HOMER3, GPHN

Biological processes related to Stiff-Person Syndrome according to GeneCards/GeneDecks:

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1synaptic transmission, glycinergicGO:06001210.1GLRA1, GLRB
2glutamate decarboxylation to succinateGO:00654010.1GAD1, GAD2
3righting reflexGO:06001310.0GLRA1, GLRB
4acrosome reactionGO:00734010.0GLRA1, GLRB
5startle responseGO:0019649.9GLRA1, GLRB
6neurotransmitter biosynthetic processGO:0421369.9GAD2, GAD1, TH
7neurotransmitter secretionGO:0072699.7GAD2, GAD1, ABAT
8response to drugGO:0424939.1GAD2, GAD1, ABAT, TSPO
9synaptic transmissionGO:0072688.6ABAT, GLRB, GABARAP, GAD1, GAD2, AMPH

Molecular functions related to Stiff-Person Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1glycine bindingGO:01659410.0GLRB, GLRA1
2glutamate decarboxylase activityGO:00435110.0GAD1, GAD2
3extracellular-glycine-gated chloride channel activityGO:0169349.9GLRB, GLRA1
4glutamate bindingGO:0165959.7GAD2, GAD1
5pyridoxal phosphate bindingGO:0301709.3CSAD, GAD2, GAD1, ABAT

Products for genes affiliated with Stiff-Person Syndrome

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  • Antibodies
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Sources for Stiff-Person Syndrome

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet