SPS
MCID: STF001
MIFTS: 64

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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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 based summary: Stiff-Person Syndrome, also known as stiff person syndrome, is related to hyperekplexia and autoimmune thyroiditis, and has symptoms including 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, bone and brain, 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:42 Stiff person syndrome (sps) is a rare neurological disorder with features of an autoimmune disease. symptoms may include muscle stiffness in the trunk and limbs, and heightened sensitivity to noise, touch, and emotional distress, which can set off muscle spasms. affected people may also have abnormal postures, such as being hunched over. sps affects twice as many women as men. it is frequently associated with other autoimmune diseases such as diabetes, thyroiditis, vitiligo, and pernicious anemia. the exact causes of sps is not known. treatment may involve high-dose diazepam, anti-convulsants, or intravenous immunoglobulin (ivig). last updated: 10/8/2014

Wikipedia:65 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, 62UMLS, 42NIH Rare Diseases, 48Orphanet, 44Novoseek, 46OMIM, 27ICD9CM, 57SNOMED-CT, 34MeSH, 39NCIt, 26ICD10 via Orphanet, 63UMLS via Orphanet
See all sources

Stiff-Person Syndrome, Aliases & Descriptions:

Name: Stiff-Person Syndrome 8 43 10 62
Stiff Person Syndrome 42 48 46
Stiff Man Syndrome 8 42 48
Moersch-Woltman Syndrome 48 62
 
Stiff-Man Syndrome 8 44
Sps 42 48
Morsch Woltman Syndrome 42


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Rare diseases
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


External Ids:

Disease Ontology8 DOID:13366
OMIM46 184850
ICD9CM27 333.91
MeSH34 D016750
SNOMED-CT57 5217008
NCIt39 C85170
ICD10 via Orphanet26 G25.8
UMLS via Orphanet63 C0085292

Related Diseases for Stiff-Person Syndrome

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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 327)
idRelated DiseaseScoreTop Affiliating Genes
1hyperekplexia30.7GLRA1, GLRB, GPHN
2autoimmune thyroiditis30.6GAD2, GAD1
3limbic encephalitis30.6GAD1, AMPH
4encephalitis30.5AMPH, GAD2
5type 1 diabetes mellitus30.3GAD2, GAD1, INS
6bipolar disorder29.8TH, GAD1, GAD2
7diabetes mellitus29.8INS, GAD1, GAD2
8breast cancer29.8TH, INS, AMPH, GAD1, GABARAP
9insulin resistance29.7TH, INS, GAD2
10cholera29.5TH, INS, GAD1
11type 2 diabetes mellitus29.3TH, INS, GAD1, GAD2
12schizophrenia29.2ABAT, TH, INS, GAD1, GAD2
13alzheimer's disease29.1ABAT, TH, INS, GAD1
14myxozoa10.8
15thymoma10.5
16ataxia10.5
17klebsiella10.5
18cerebellar ataxia10.4
19pneumonia10.4
20molybdenum cofactor deficiency10.4GPHN
21neuronitis10.3
22thyroiditis10.3
23hyperekplexia, hereditary 1, autosomal dominant or recessive10.3
24spotted fever10.3
25endotheliitis10.3
26hereditary elliptocytosis10.3
27phaeohyphomycosis10.2
28celiac disease10.2
29myasthenia gravis10.2
30cerebritis10.2
31cerebellar disease10.2
32dermatitis10.2
33dermatitis herpetiformis10.2
34myoclonus10.2
35spasticity10.2
36pyridoxine-refractory autosomal recessive sideroblastic anemia10.2GAD1, AMPH
37temporal lobe epilepsy10.2GAD2, GAD1
38aspergillosis10.2
39mycetoma10.2
40mycobacterium fortuitum10.2
41cystic fibrosis10.2
42nocardiosis10.2
43bacterial vaginosis10.2
44coccidiosis10.2
45diarrhea10.2
46relapsing fever10.2
47sinusitis10.1
48acute diarrhea10.1
49myiasis10.1
50scleroderma10.1

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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Symptoms by clinical synopsis from OMIM:

184850

Clinical features from OMIM:

184850

HPO human phenotypes related to Stiff-Person Syndrome:

(show all 22)
id Description Frequency HPO Source Accession
1 depression HP:0000716
2 anxiety HP:0000739
3 agoraphobia HP:0000756
4 hypertension HP:0000822
5 hyperhidrosis HP:0000975
6 vitiligo HP:0001045
7 hyperreflexia HP:0001347
8 tachycardia HP:0001649
9 anemia HP:0001903
10 fever HP:0001945
11 rigidity HP:0002063
12 opisthotonus HP:0002179
13 exaggerated startle response HP:0002267
14 frequent falls HP:0002359
15 lumbar hyperlordosis HP:0002938
16 autoimmunity HP:0002960
17 adult onset HP:0003581
18 myoclonic spasms HP:0003739
19 sporadic HP:0003745
20 axial muscle stiffness HP:0006921
21 proximal limb muscle stiffness HP:0007066
22 asymmetric limb muscle stiffness HP:0007156

Drugs & Therapeutics for Stiff-Person Syndrome

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Drug clinical trials:

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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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MalaCards organs/tissues related to Stiff-Person Syndrome:

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

Animal Models for Stiff-Person Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Stiff-Person Syndrome:

36
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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Articles related to Stiff-Person Syndrome:

(show top 50)    (show all 210)
idTitleAuthorsYear
1
Latent autoimmune diabetes in Stiff-Person Syndrome. (25249677)
2014
2
The horses are the first thought but one must not forget the zebras even if they are rare: Stiff person syndrome associated with malignant mesothelioma. (24711475)
2014
3
LADA type diabetes, celiac diasease, cerebellar ataxia and stiff person syndrome. A rare association of autoimmune disorders. (25087381)
2014
4
Stiff person syndrome: a case report. (25095302)
2014
5
A case of childhood stiff-person syndrome with striatal lesions: a possible entity distinct from the classical adult form. (22944247)
2013
6
Extremely rare coincidence of non-radiographic axial spondyloarthropathy HLA-B27 positive and Stiff Person Syndrome - rheumatologist point of view. (24289195)
2013
7
Treatment of stiff-person syndrome with chronic plasmapheresis. (23239368)
2013
8
Glycine receptor antibodies in stiff-person syndrome and other GAD-positive CNS disorders. (24174585)
2013
9
Human Stiff person syndrome IgG-containing high-titer anti-GAD65 autoantibodies induce motor dysfunction in rats. (23099416)
2013
10
Evidence of T-cell mediated neuronal injury in stiff-person syndrome with anti-amphiphysin antibodies. (24405658)
2013
11
Physical therapist management of stiff person syndrome in a 24-year-old woman. (21737522)
2011
12
The occurrence of stiff person syndrome in a patient with thymoma: case report and literature review. (20509396)
2010
13
Urodynamic study alterations in a patient with stiff person syndrome. (20438592)
2010
14
Successful 'passive transfer' of paraneoplastic stiff person syndrome with antibodies to an intracellular antigen. (21030432)
2010
15
Long-lived plasma cells and memory B cells produce pathogenic anti-GAD65 autoantibodies in Stiff Person Syndrome. (20520773)
2010
16
A critical update on the immunopathogenesis of Stiff Person Syndrome. (20636380)
2010
17
Effects of immunotherapy on motor cortex excitability in Stiff Person Syndrome. (19820984)
2010
18
Stiff person syndrome presenting with sudden onset of shortness of breath and difficulty moving the right arm: a case report. (20423476)
2010
19
Stiff-person syndrome: persistent elevation of glutamic acid decarboxylase antibodies despite successful treatment with rituximab. (20577094)
2010
20
Stiff person syndrome associated with lower motor neuron disease and infiltration of cytotoxic T cells in the spinal cord. (19616370)
2009
21
Stiff-person syndrome with amphiphysin antibodies: distinctive features of a rare disease. (18971449)
2008
22
Stiff eyes in stiff-person syndrome. (18663186)
2008
23
GAD65 IgG autoantibodies in stiff person syndrome: clonality, avidity and persistence. (18637036)
2008
24
Levetiracetam in stiff-person syndrome. (18769864)
2008
25
Successful intrathecal baclofen therapy for seronegative stiff-person syndrome: a case report. (18975523)
2008
26
GAD antibody positive paraneoplastic stiff person syndrome in a patient with renal cell carcinoma. (17486640)
2007
27
Stiff-person syndrome. (17445501)
2007
28
Stiff person syndrome with cerebellar disease and high-titer anti-GAD antibodies. (17404205)
2007
29
Scleritis in a person with stiff-person syndrome. (17365806)
2007
30
A patient with post-traumatic stress disorder developing stiff person syndrome: is there a correlation? (17558259)
2007
31
Stiff-person syndrome. (17430874)
2007
32
A rare saccade velocity profile in Stiff-Person Syndrome with cerebellar degeneration. (16725126)
2006
33
Physical therapy during in-patient rehabilitation for a patient with Stiff-Person Syndrome. (16630369)
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
Improvement of stiff-person syndrome with tiagabine. (11468338)
2001
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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Expression patterns in normal tissues for genes affiliated with Stiff-Person Syndrome

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Pathways for genes affiliated with Stiff-Person Syndrome

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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 Activity37
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 I37
9.4ABAT, GAD1, GAD2
129.4TH, GAD1, GAD2
13
Show member pathways
catecholamine biosynthesis37
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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Compounds related to Stiff-Person Syndrome according to GeneCards/GeneDecks:

(show top 50)    (show all 60)
idCompoundScoreTop Affiliating Genes
1cyanotriphenylborate2810.3GLRB, GLRA1
2bilobalide2810.3GLRB, GLRA1
3ginkgolide x2810.3GLRB, GLRA1
4picrotin2810.3GLRB, GLRA1
5pregnenolone sulphate2810.3GLRA1, GLRB
6tropisetron28 4411.2GLRB, GLRA1
7ginkgolide b28 44 6112.2GLRB, GLRA1
8lindane44 1111.2GLRB, GLRA1
9picrotoxinin2 44 2812.2GLRB, GLRA1
10succinic semialdehyde4410.1GAD1, ABAT
11zn2+2810.1GLRB, GLRA1
12ibotenic acid4410.1GAD1, TH
13l-serine61 28 24 1113.0GLRB, GLRA1
14baclofen44 1111.0ABAT, GAD1
15pyridoxal44 24 1112.0GAD2, GAD1
16l-alanine61 28 24 1112.9ABAT, GLRB, GLRA1
17strychnine44 2 2811.9GPHN, GLRA1
18L-Aspartic acid24 1110.9GAD2, GAD1
19pyridoxal 5-phosphate449.8ABAT, GAD1, GAD2
20famotidine44 2 24 1112.8ABAT, GAD1, GAD2
21l-glutamic acid28 24 1111.8ABAT, GAD1, GAD2
22mptp449.8GAD2, GAD1, TH
23picrotoxin44 28 1111.8GLRB, GLRA1
24muscimol44 61 2811.8GAD1, ABAT
25tetrodotoxin44 61 2811.8TH, GAD1, GAD2
26valproate449.8ABAT, TH, GAD1
27ornithine44 2410.7GAD2, GAD1, ABAT
28pterin44 2410.7TH, GPHN
29c-peptide449.7GAD2, GAD1, INS
30kainate44 2810.7GAD2, GAD1, TH
31choline44 24 1111.7GAD2, GAD1, TH
32levodopa44 1110.4GAD2, GAD1, TH, ABAT
33Cysteic acid249.4GAD2, GAD1, CSAD
34cysteine sulfinic acid449.4CSAD, GAD1, GAD2
353-Sulfinoalanine24 1110.4CSAD, GAD1, GAD2
36gnrh449.4GAD1, INS, TH
37carbon dioxide44 2410.3CSAD, GAD1, GAD2
38dopamine44 28 24 1112.3GAD2, GAD1, TH, ABAT
39beta-alanine44 61 28 24 1113.3ABAT, GLRB, GLRA1, GAD1, GAD2
40Gamma-Aminobutyric acid249.3ABAT, GAD1, GABARAP, GAD2
41acetylcholine44 50 28 24 1113.3TH, AMPH, GAD1, GAD2
42Pyridoxal 5'-phosphate249.0GAD2, GAD1, CSAD, ABAT
43nmda44 2810.0TH, GPHN, GLRB, GAD1, GAD2
44alanine448.9GAD2, GAD1, INS, TH, ABAT
45hypotaurine61 44 2410.9CSAD, GLRB, GLRA1, GAD1, GAD2
46tyrosine448.6TH, INS, GAD1, GAD2, ABAT
47taurine44 61 2410.5GAD2, ABAT, CSAD, GLRB, GLRA1, GAD1
48gaba448.3ABAT, TH, GPHN, GAD1, GABARAP, GAD2
49nitric oxide44 24 1110.3GAD2, GAD1, CSAD, ABAT
50glutamate446.9ABAT, TH, GPHN, INS, AMPH, CSAD

GO Terms for genes affiliated with Stiff-Person Syndrome

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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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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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet