SPS
MCID: STF001
MIFTS: 63

Stiff-Person Syndrome (SPS) malady

Rare diseases, Neuronal diseases, Endocrine diseases categories
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Summaries for Stiff-Person Syndrome

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8Disease Ontology, 43NIH Rare Diseases, 44NINDS, 65Wikipedia, 47OMIM, 33MalaCards
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NINDS:44 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 autoimmune thyroiditis and hyperekplexia. An important gene associated with Stiff-Person Syndrome is GLRA1 (glycine receptor, alpha 1), and among its related pathways are Ligand-gated ion channel transport and GABA signaling in brain. 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 no phenotypic analysis and respiratory system.

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

NIH Rare Diseases:43 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:65 Stiff person syndrome (SPS) is a rare neurologic disorder of unclear etiology characterized by... more...

Description from OMIM:47 184850

Aliases & Classifications for Stiff-Person Syndrome

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8Disease Ontology, 43NIH Rare Diseases, 44NINDS, 10DISEASES, 45Novoseek, 49Orphanet, 47OMIM, 62UMLS, 35MeSH, 58SNOMED-CT, 40NCIt, 27ICD9CM, 26ICD10 via Orphanet, 59SNOMED-CT via Orphanet, 63UMLS via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

49
stiff person syndrome:
Prevalence: 1-9/1000000; Age of onset: Adulthood; Age of death: Normal


Aliases & Descriptions:

stiff-person syndrome 8 44 10 62
stiff person syndrome 43 49 47
stiff man syndrome 8 43 49
stiff-man syndrome 8 45
sps 43 49
moersch-woltman syndrome 49
morsch woltman syndrome 43


External Ids:

Disease Ontology8 DOID:13366
MeSH35 D016750
NCIt40 C85170
ICD9CM27 333.91
SNOMED-CT58 5217008
OMIM47 184850
ICD10 via Orphanet26 G25.8
SNOMED-CT via Orphanet59 5217008
UMLS via Orphanet63 C0085292

Related Diseases for Stiff-Person Syndrome

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17GeneCards, 18GeneDecks
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Graphical network of the top 20 diseases related to Stiff-Person Syndrome:



Diseases related to stiff-person syndrome

Symptoms for Stiff-Person Syndrome

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47OMIM
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Symptoms by clinical synopsis from OMIM:

184850

Clinical features from OMIM:

184850

Drugs & Therapeutics for Stiff-Person Syndrome

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42NIH Clinical Center, 6ClinicalTrials, 62UMLS, 41NDF-RT
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Drug clinical trials:

Search ClinicalTrials for Stiff-Person Syndrome

Search NIH Clinical Center for Stiff-Person Syndrome

Genetic Tests for Stiff-Person Syndrome

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Anatomical Context for Stiff-Person Syndrome

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33MalaCards
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MalaCards organs/tissues related to Stiff-Person Syndrome:

33
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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37MGI
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MGI Mouse Phenotypes related to Stiff-Person Syndrome:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00030128.7TH, INS, GLRA1, GAD1, GAD2
2MP:00053888.5TH, GPHN, GLRA1, GAD1, GAD2
3MP:00053788.4GAD2, GAD1, GLRA1, GLRB, INS, TH
4MP:00053798.3TH, INS, AMPH, GLRB, GAD1, GAD2
5MP:00053898.3INS, AMPH, GLRB, GLRA1, GAD2
6MP:00028737.9TH, GPHN, INS, GAD1, GABARAP, GAD2
7MP:00053867.5GAD2, TH, GPHN, INS, AMPH, GLRB
8MP:00036317.5TH, GPHN, INS, AMPH, GLRB, GLRA1
9MP:00107687.4TH, GPHN, INS, AMPH, GLRB, GLRA1

Publications for Stiff-Person Syndrome

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52PubMed
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Articles related to Stiff-Person Syndrome:

(show top 50)    (show all 197)
idTitleAuthorsYear
1
A case of childhood stiff-person syndrome with striatal lesions: a possible entity distinct from the classical adult form. (22944247)
2013
2
Extremely rare coincidence of non-radiographic axial spondyloarthropathy HLA-B27 positive and Stiff Person Syndrome - rheumatologist point of view. (24289195)
2013
3
Treatment of stiff-person syndrome with chronic plasmapheresis. (23239368)
2013
4
Glycine receptor antibodies in stiff-person syndrome and other GAD-positive CNS disorders. (24174585)
2013
5
Human Stiff person syndrome IgG-containing high-titer anti-GAD65 autoantibodies induce motor dysfunction in rats. (23099416)
2013
6
Evidence of T-cell mediated neuronal injury in stiff-person syndrome with anti-amphiphysin antibodies. (24405658)
2013
7
Stiff Person syndrome and other anti-GAD-associated neurologic disorders. (23677666)
2012
8
Physical therapist management of stiff person syndrome in a 24-year-old woman. (21737522)
2011
9
The occurrence of stiff person syndrome in a patient with thymoma: case report and literature review. (20509396)
2010
10
Urodynamic study alterations in a patient with stiff person syndrome. (20438592)
2010
11
Successful 'passive transfer' of paraneoplastic stiff person syndrome with antibodies to an intracellular antigen. (21030432)
2010
12
Long-lived plasma cells and memory B cells produce pathogenic anti-GAD65 autoantibodies in Stiff Person Syndrome. (20520773)
2010
13
A critical update on the immunopathogenesis of Stiff Person Syndrome. (20636380)
2010
14
Effects of immunotherapy on motor cortex excitability in Stiff Person Syndrome. (19820984)
2010
15
Stiff person syndrome presenting with sudden onset of shortness of breath and difficulty moving the right arm: a case report. (20423476)
2010
16
Stiff-person syndrome: persistent elevation of glutamic acid decarboxylase antibodies despite successful treatment with rituximab. (20577094)
2010
17
Stiff person syndrome associated with lower motor neuron disease and infiltration of cytotoxic T cells in the spinal cord. (19616370)
2009
18
Protective and detrimental immunity: lessons from stiff person syndrome and multiple sclerosis. (19566493)
2009
19
Stiff-person syndrome: commonly mistaken for hysterical paralysis. (19473753)
2009
20
Stiff-person syndrome with amphiphysin antibodies: distinctive features of a rare disease. (18971449)
2008
21
Stiff eyes in stiff-person syndrome. (18663186)
2008
22
GAD65 IgG autoantibodies in stiff person syndrome: clonality, avidity and persistence. (18637036)
2008
23
Levetiracetam in stiff-person syndrome. (18769864)
2008
24
Successful intrathecal baclofen therapy for seronegative stiff-person syndrome: a case report. (18975523)
2008
25
GAD antibody positive paraneoplastic stiff person syndrome in a patient with renal cell carcinoma. (17486640)
2007
26
Stiff-person syndrome. (17445501)
2007
27
Stiff person syndrome with cerebellar disease and high-titer anti-GAD antibodies. (17404205)
2007
28
Scleritis in a person with stiff-person syndrome. (17365806)
2007
29
A patient with post-traumatic stress disorder developing stiff person syndrome: is there a correlation? (17558259)
2007
30
Stiff-person syndrome. (17430874)
2007
31
A rare saccade velocity profile in Stiff-Person Syndrome with cerebellar degeneration. (16725126)
2006
32
Physical therapy during in-patient rehabilitation for a patient with Stiff-Person Syndrome. (16630369)
2006
33
Antiamphiphysin-positive stiff-person syndrome associated with small cell lung cancer. (16671079)
2006
34
Eye movement abnormalities in stiff person syndrome. (16275836)
2005
35
Stiff-person syndrome. (15140273)
2004
36
Stiff person syndrome does not always occur with maternal passive transfer of GAD65 antibodies. (15184624)
2004
37
Stiff-person syndrome: a rare presentation for breast cancer. (15569219)
2004
38
Humoral and cellular autoimmune responses in stiff person syndrome. (14592879)
2003
39
Progressive encephalomyelitis with rigidity presenting as a stiff-person syndrome. (12039424)
2002
40
Stiff person syndrome and myasthenia gravis. (11960163)
2002
41
The stiff-person syndrome. Case report. (12538969)
2002
42
Anaesthetic management of a patient with Stiff-person syndrome. (11966568)
2002
43
Atypical low back pain: stiff-person syndrome. (12027316)
2002
44
Anaesthesia for Stiff-Person Syndrome. (11892649)
2002
45
Stiff-person syndrome: autoimmunity and the central nervous system. (15999029)
2001
46
Stiff person syndrome. (11361276)
2001
47
Focal stiff-person syndrome. (11257937)
2001
48
Motor cortex excitability in stiff-person syndrome. (11050023)
2000
49
The stiff-person syndrome: an autoimmune disorder affecting neurotransmission of gamma-aminobutyric acid. (10507962)
1999
50
Atypical stiff-person syndrome with spinal MRI findings, amphiphysin autoantibodies, and immunosuppression. (9674811)
1998

Variations for Stiff-Person Syndrome

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Expression for genes affiliated with Stiff-Person Syndrome

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2BioGPS, 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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Sources:
50PathCards, 55Reactome, 12EMD Millipore, 54R&D Systems, 38NCBI BioSystems Database, 30KEGG, 5Cell Signaling Technology, 53QIAGEN, 60Thomson Reuters
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Pathways related to Stiff-Person Syndrome according to GeneCards/GeneDecks:

(show all 19)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.9GLRA1, GLRB
2
Show member pathways
9.8GAD2, GAD1
3
Show member pathways
9.8GAD2, GAD1
49.6INS, TH
5
Show member pathways
Serotonin Transporter Activity38
9.5AMPH, TH
69.4GAD2, GAD1, ABAT
7
Show member pathways
9.4GAD2, GAD1, ABAT
89.4GAD2, GAD1, ABAT
9
Show member pathways
9.4ABAT, GAD1, GAD2
10
Show member pathways
9.4ABAT, GAD1, GAD2
11
Show member pathways
phenylethylamine degradation I38
9.4ABAT, GAD1, GAD2
129.4TH, GAD1, GAD2
13
Show member pathways
catecholamine biosynthesis38
9.4GAD2, GAD1, TH
149.4GABARAP, INS
15
Show member pathways
9.4GAD2, GAD1, INS
16
Show member pathways
9.0CSAD, GAD1, GAD2
17
Show member pathways
9.0CSAD, GAD1, GAD2
18
Show member pathways
7.9GAD2, GABARAP, GAD1, GPHN, TH, ABAT
19
Show member pathways
7.2ABAT, TH, GPHN, INS, CSAD, GAD1

Compounds for genes affiliated with Stiff-Person Syndrome

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29IUPHAR, 45Novoseek, 61Tocris Bioscience, 11DrugBank, 3BitterDB, 24HMDB, 51PharmGKB
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Compounds related to Stiff-Person Syndrome according to GeneCards/GeneDecks:

(show top 50)    (show all 60)
idCompoundScoreTop Affiliating Genes
1cyanotriphenylborate2910.3GLRB, GLRA1
2bilobalide2910.3GLRB, GLRA1
3ginkgolide x2910.3GLRB, GLRA1
4picrotin2910.3GLRB, GLRA1
5pregnenolone sulphate2910.3GLRA1, GLRB
6tropisetron29 4511.2GLRB, GLRA1
7ginkgolide b29 45 6112.2GLRB, GLRA1
8lindane45 1111.2GLRB, GLRA1
9picrotoxinin3 45 2912.2GLRB, GLRA1
10succinic semialdehyde4510.1GAD1, ABAT
11zn2+2910.1GLRB, GLRA1
12ibotenic acid4510.1GAD1, TH
13l-serine61 29 24 1113.0GLRB, GLRA1
14baclofen45 1111.0ABAT, GAD1
15pyridoxal45 24 1112.0GAD2, GAD1
16l-alanine61 29 24 1112.9ABAT, GLRB, GLRA1
17strychnine45 3 2911.9GPHN, GLRA1
18L-Aspartic acid24 1110.9GAD2, GAD1
19pyridoxal 5-phosphate459.8ABAT, GAD1, GAD2
20famotidine45 3 24 1112.8ABAT, GAD1, GAD2
21l-glutamic acid29 24 1111.8ABAT, GAD1, GAD2
22mptp459.8GAD2, GAD1, TH
23picrotoxin45 29 1111.8GLRB, GLRA1
24muscimol45 61 2911.8GAD1, ABAT
25tetrodotoxin45 61 2911.8TH, GAD1, GAD2
26valproate459.8ABAT, TH, GAD1
27ornithine45 2410.7GAD2, GAD1, ABAT
28pterin45 2410.7TH, GPHN
29c-peptide459.7GAD2, GAD1, INS
30kainate45 2910.7GAD2, GAD1, TH
31choline45 24 1111.7GAD2, GAD1, TH
32levodopa45 1110.4GAD2, GAD1, TH, ABAT
33Cysteic acid249.4GAD2, GAD1, CSAD
34cysteine sulfinic acid459.4CSAD, GAD1, GAD2
353-Sulfinoalanine24 1110.4CSAD, GAD1, GAD2
36gnrh459.4GAD1, INS, TH
37carbon dioxide45 2410.3CSAD, GAD1, GAD2
38dopamine45 29 24 1112.3GAD2, GAD1, TH, ABAT
39beta-alanine45 61 29 24 1113.3ABAT, GLRB, GLRA1, GAD1, GAD2
40Gamma-Aminobutyric acid249.3ABAT, GAD1, GABARAP, GAD2
41acetylcholine45 51 29 24 1113.3TH, AMPH, GAD1, GAD2
42Pyridoxal 5'-phosphate249.0GAD2, GAD1, CSAD, ABAT
43nmda45 2910.0TH, GPHN, GLRB, GAD1, GAD2
44alanine458.9GAD2, GAD1, INS, TH, ABAT
45hypotaurine61 45 2410.9CSAD, GLRB, GLRA1, GAD1, GAD2
46tyrosine458.6TH, INS, GAD1, GAD2, ABAT
47taurine45 61 2410.5GAD2, ABAT, CSAD, GLRB, GLRA1, GAD1
48gaba458.3ABAT, TH, GPHN, GAD1, GABARAP, GAD2
49nitric oxide45 24 1110.3GAD2, GAD1, CSAD, ABAT
50glutamate456.9ABAT, TH, GPHN, INS, AMPH, CSAD

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
1clathrin-sculpted gamma-aminobutyric acid transport vesicle membraneGO:06120210.0GAD1, GAD2
2chloride channel complexGO:0347079.8GLRA1, GLRB
3synaptic vesicle membraneGO:0306729.6AMPH, GAD2
4smooth endoplasmic reticulumGO:0057909.6GABARAP, TH
5synaptic vesicleGO:0080219.5AMPH, TH
6postsynaptic membraneGO:0452119.4GLRA1, GLRB, GPHN
7cell junctionGO:0300548.7GAD2, GLRA1, GLRB, AMPH, GPHN
8plasma membraneGO:0058867.8GPHN, GLRB, GLRA1, GAD1, GABARAP, GAD2

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

(show all 14)
idNameGO IDScoreTop Affiliating Genes
1synaptic transmission, glycinergicGO:06001210.1GLRB, GLRA1
2righting reflexGO:06001310.1GLRA1, GLRB
3startle responseGO:00196410.1GLRB, GLRA1
4glutamate decarboxylation to succinateGO:00654010.0GAD1, GAD2
5acrosome reactionGO:00734010.0GLRA1, GLRB
6adult walking behaviorGO:00762810.0GLRA1, GLRB
7regulation of membrane potentialGO:0423919.9GLRA1, GLRB
8chloride transmembrane transportGO:19024769.8GLRA1, GLRB
9neurotransmitter biosynthetic processGO:0421369.7GAD2, GAD1, TH
10neurotransmitter secretionGO:0072699.7GAD2, GAD1, ABAT
11visual perceptionGO:0076019.6GLRA1, GLRB, TH
12response to drugGO:0424939.4ABAT, GAD1, GAD2
13learningGO:0076129.2AMPH, TH
14synaptic transmissionGO:0072688.3GAD2, ABAT, AMPH, GLRB, GAD1, GABARAP

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

idNameGO IDScoreTop Affiliating Genes
1extracellular-glycine-gated chloride channel activityGO:0169349.9GLRA1, GLRB
2glutamate decarboxylase activityGO:0043519.9GAD1, GAD2
3glutamate bindingGO:0165959.7GAD2, GAD1
4glycine bindingGO:0165949.6GLRB, GLRA1
5pyridoxal phosphate bindingGO:0301708.7GAD2, GAD1, CSAD, ABAT
6protein bindingGO:0055157.2GAD2, GABARAP, GAD1, GLRA1, GLRB, AMPH

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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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet