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 bilobalide and ginkgolide x 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, 43NINDS, 10DISEASES, 60UMLS, 42NIH Rare Diseases, 48Orphanet, 44Novoseek, 46OMIM, 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:

Search CenterWatch for Stiff-Person Syndrome

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:00053798.5GAD2, GAD1, GLRB, INS, TH, AMPH
2MP:00036317.1AMPH, GAD2, GAD1, DPYSL5, GLRB, GLRA1
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
Cannabis derivatives therapy for a seronegative stiff-person syndrome: a case report. (22726074)
2013
2
GABAergic changes in (11)C-flumazenil PET in the drug-naA^ve Stiff-Person syndrome. (23250135)
2013
3
Successful treatment of stiff person syndrome with sequential use of tacrolimus. (23715915)
2013
4
Paraneoplastic stiff person syndrome associated with colon cancer misdiagnosed as idiopathic Parkinson's disease worsened after capecitabine therapy. (24028681)
2013
5
Stiff person syndrome (SPS) complicated by respiratory failure: successful treatment with rituximab. (21647727)
2012
6
Autoimmune stiff person syndrome and related myelopathies: understanding of electrophysiological and immunological processes. (22499087)
2012
7
Electrophysiological characteristics in four patients from Brazil with stiff person syndrome. (22386477)
2012
8
Lower extremity predominant stiff-person syndrome and limbic encephalitis with amphiphysin antibodies in breast cancer. (23172386)
2012
9
Stiff person syndrome. (21921002)
2011
10
Stiff-person syndrome presenting as eating disorder: a case report. (20186723)
2011
11
Respective implications of glutamate decarboxylase antibodies in stiff person syndrome and cerebellar ataxia. (21294897)
2011
12
Stiff person syndrome and pregnancy. (21768852)
2011
13
The immunological basis for treatment of stiff person syndrome. (20943276)
2011
14
Long-lived plasma cells and memory B cells produce pathogenic anti-GAD65 autoantibodies in Stiff Person Syndrome. (20520773)
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 treated with rituximab. (22802263)
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
Finding our way: diagnostic perils and the stiff person syndrome. (19791526)
2009
21
Monozygotic twins with stiff person syndrome and autoimmune thyroiditis: rituximab inefficacy in a double-blind, randomised, placebo controlled crossover study. (19674986)
2009
22
Insulin treatment in a patient with Type 2 diabetes and Stiff-person syndrome. (19125773)
2009
23
Levetiracetam in stiff-person syndrome. (18769864)
2008
24
11C-flumazenil positron emission tomography demonstrates reduction of both global and local cerebral benzodiazepine receptor binding in a patient with Stiff Person Syndrome. (18574617)
2008
25
Propofol for stiff-person syndrome: learning new tricks from an old dog. (18443308)
2008
26
Scleritis in a person with stiff-person syndrome. (17365806)
2007
27
Acute ataxia, Graves' disease, and stiff person syndrome. (17712846)
2007
28
Antiamphiphysin-positive stiff-person syndrome associated with small cell lung cancer. (16671079)
2006
29
Prevention of an acute severe exacerbation of Stiff-person syndrome during surgery. (16571986)
2006
30
Autoimmunity to GABAA-receptor-associated protein in stiff-person syndrome. (16984900)
2006
31
Anaesthesia for stiff person syndrome: successful use of total intravenous anaesthesia. (16792638)
2006
32
Sudden spasms following gradual lordosis--the stiff-person syndrome. (16932604)
2006
33
Response to steroid treatment in anti-glutamic acid decarboxylase antibody-associated cerebellar ataxia, stiff person syndrome and polyendocrinopathy. (17013903)
2006
34
A step forward for stiff-person syndrome. (15836869)
2005
35
Brain gamma-aminobutyric acid changes in stiff-person syndrome. (15956168)
2005
36
Paraneoplastic stiff-person syndrome: passive transfer to rats by means of IgG antibodies to amphiphysin. (15836889)
2005
37
Minimal change nephrotic syndrome with stiff-person syndrome: is there a link? (15983949)
2005
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
Anaesthesia for Stiff-Person Syndrome. (11892649)
2002
43
Stiffness, spasticity, or both: a case report of stiff-person syndrome. (19078672)
2002
44
Improvement of stiff-person syndrome with tiagabine. (11468338)
2001
45
Anti-GAD antibodies and breast cancer in a patient with stiff-person syndrome: a puzzling association. (11455186)
2001
46
A patient with atypical stiff-person syndrome: an electrophysiological study. (19078649)
2001
47
The clinical spectrum of anti-GAD antibody-positive patients with stiff-person syndrome. (11094109)
2000
48
The stiff-person syndrome: an autoimmune disorder affecting neurotransmission of gamma-aminobutyric acid. (10507962)
1999
49
Significant improvement of stiff-person syndrome after paraspinal injection of botulinum toxin A. (8341305)
1993
50
Stiff-person syndrome. (1393849)
1992

Genetic Variations for Stiff-Person Syndrome

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Expression for genes affiliated with Stiff-Person Syndrome

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

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:0057909.8TH, GABARAP
2clathrin-sculpted gamma-aminobutyric acid transport vesicle membraneGO:0612029.7GAD1, GAD2
3postsynaptic membraneGO:0452118.7GLRB, GLRA1, HOMER3, GPHN
4cell junctionGO:0300548.0GPHN, HOMER3, GLRA1, GLRB, GAD2, AMPH

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

Products for genes affiliated with Stiff-Person Syndrome

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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