SPS
MCID: STF001
MIFTS: 63

Stiff-Person Syndrome (SPS) malady

Rare diseases, Neuronal diseases, Endocrine diseases categories

Summaries for Stiff-Person Syndrome

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9Disease Ontology, 44NIH Rare Diseases, 45NINDS, 66Wikipedia, 48OMIM, 34MalaCards
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NINDS:45 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:9 A movement disease that is of unknown etiology characterized by progressive rigidity.

NIH Rare Diseases:44 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:66 Stiff person syndrome (SPS) is a rare neurologic disorder of unclear etiology characterized by... more...

Description from OMIM:48 184850

Aliases & Classifications for Stiff-Person Syndrome

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9Disease Ontology, 44NIH Rare Diseases, 45NINDS, 11DISEASES, 46Novoseek, 50Orphanet, 48OMIM, 63UMLS, 36MeSH, 59SNOMED-CT, 41NCIt, 28ICD9CM, 27ICD10 via Orphanet, 60SNOMED-CT via Orphanet, 64UMLS via Orphanet
See all sources

Classifications:

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


Characteristics (Orphanet epidemiological data):

50
stiff person syndrome:
Prevalence: 1-9/1000000; Age of onset: Adulthood; Age of death: Normal


Aliases & Descriptions:

stiff-person syndrome 9 45 11 63
stiff person syndrome 44 50 48
stiff man syndrome 9 44 50
stiff-man syndrome 9 46
sps 44 50
moersch-woltman syndrome 50
morsch woltman syndrome 44


External Ids:

Disease Ontology9 DOID:13366
MeSH36 D016750
NCIt41 C85170
ICD9CM28 333.91
SNOMED-CT59 5217008
OMIM48 184850
ICD10 via Orphanet27 G25.8
SNOMED-CT via Orphanet60 5217008
UMLS via Orphanet64 C0085292

Related Diseases for Stiff-Person Syndrome

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18GeneCards, 19GeneDecks
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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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48OMIM
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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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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-RT
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Approved drugs:

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Drug clinical trials:

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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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34MalaCards
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MalaCards organs/tissues related to Stiff-Person Syndrome:

34
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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38MGI
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MGI Mouse Phenotypes related to Stiff-Person Syndrome:

38
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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53PubMed
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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, 16Gene 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:
51PathCards, 56Reactome, 13EMD Millipore, 55R&D Systems, 39NCBI BioSystems Database, 31KEGG, 5Cell Signaling Technology, 54QIAGEN, 61Thomson 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 Activity39
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 I39
9.4ABAT, GAD1, GAD2
129.4TH, GAD1, GAD2
13
Show member pathways
catecholamine biosynthesis39
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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Sources:
30IUPHAR, 46Novoseek, 62Tocris Bioscience, 12DrugBank, 3BitterDB, 25HMDB, 52PharmGKB
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Compounds related to Stiff-Person Syndrome according to GeneCards/GeneDecks:

(show top 50)    (show all 60)
idCompoundScoreTop Affiliating Genes
1cyanotriphenylborate3010.3GLRB, GLRA1
2bilobalide3010.3GLRB, GLRA1
3ginkgolide x3010.3GLRB, GLRA1
4picrotin3010.3GLRB, GLRA1
5pregnenolone sulphate3010.3GLRA1, GLRB
6tropisetron30 4611.2GLRB, GLRA1
7ginkgolide b30 46 6212.2GLRB, GLRA1
8lindane46 1211.2GLRB, GLRA1
9picrotoxinin3 46 3012.2GLRB, GLRA1
10succinic semialdehyde4610.1GAD1, ABAT
11zn2+3010.1GLRB, GLRA1
12ibotenic acid4610.1GAD1, TH
13l-serine62 30 25 1213.0GLRB, GLRA1
14baclofen46 1211.0ABAT, GAD1
15pyridoxal46 25 1212.0GAD2, GAD1
16l-alanine62 30 25 1212.9ABAT, GLRB, GLRA1
17strychnine46 3 3011.9GPHN, GLRA1
18L-Aspartic acid25 1210.9GAD2, GAD1
19pyridoxal 5-phosphate469.8ABAT, GAD1, GAD2
20famotidine46 3 25 1212.8ABAT, GAD1, GAD2
21l-glutamic acid30 25 1211.8ABAT, GAD1, GAD2
22mptp469.8GAD2, GAD1, TH
23picrotoxin46 30 1211.8GLRB, GLRA1
24muscimol46 62 3011.8GAD1, ABAT
25tetrodotoxin46 62 3011.8TH, GAD1, GAD2
26valproate469.8ABAT, TH, GAD1
27ornithine46 2510.7GAD2, GAD1, ABAT
28pterin46 2510.7TH, GPHN
29c-peptide469.7GAD2, GAD1, INS
30kainate46 3010.7GAD2, GAD1, TH
31choline46 25 1211.7GAD2, GAD1, TH
32levodopa46 1210.4GAD2, GAD1, TH, ABAT
33Cysteic acid259.4GAD2, GAD1, CSAD
34cysteine sulfinic acid469.4CSAD, GAD1, GAD2
353-Sulfinoalanine25 1210.4CSAD, GAD1, GAD2
36gnrh469.4GAD1, INS, TH
37carbon dioxide46 2510.3CSAD, GAD1, GAD2
38dopamine46 30 25 1212.3GAD2, GAD1, TH, ABAT
39beta-alanine46 62 30 25 1213.3ABAT, GLRB, GLRA1, GAD1, GAD2
40Gamma-Aminobutyric acid259.3ABAT, GAD1, GABARAP, GAD2
41acetylcholine46 52 30 25 1213.3TH, AMPH, GAD1, GAD2
42Pyridoxal 5'-phosphate259.0GAD2, GAD1, CSAD, ABAT
43nmda46 3010.0TH, GPHN, GLRB, GAD1, GAD2
44alanine468.9GAD2, GAD1, INS, TH, ABAT
45hypotaurine62 46 2510.9CSAD, GLRB, GLRA1, GAD1, GAD2
46tyrosine468.6TH, INS, GAD1, GAD2, ABAT
47taurine46 62 2510.5GAD2, ABAT, CSAD, GLRB, GLRA1, GAD1
48gaba468.3ABAT, TH, GPHN, GAD1, GABARAP, GAD2
49nitric oxide46 25 1210.3GAD2, GAD1, CSAD, ABAT
50glutamate466.9ABAT, TH, GPHN, INS, AMPH, CSAD

GO Terms for genes affiliated with Stiff-Person Syndrome

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17Gene 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
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet