MCID: STF001
MIFTS: 52

Stiff-Person Syndrome malady

Rare diseases, Neuronal diseases, Endocrine diseases categories

Aliases & Classifications for Stiff-Person Syndrome

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Sources:
8Disease Ontology, 42NIH Rare Diseases, 43NINDS, 10DISEASES, 44Novoseek, 48Orphanet, 61UMLS, 33MeSH, 27ICD9CM, 39NCIt, 56SNOMED-CT, 26ICD10 via Orphanet, 62UMLS via Orphanet
See all sources

Aliases & Descriptions for Stiff-Person Syndrome:

Name: Stiff-Person Syndrome 8 43 10 61
Stiff Man Syndrome 8 42 48
Moersch-Woltman Syndrome 42 48
Small Patella Syndrome 42 61
Stiff Person Syndrome 42 48
Stiff-Man Syndrome 8 44
 
Sps 42 48
Coxopodopatellar Syndrome 42
Ischiopatellar Dysplasia 42
Morsch Woltman Syndrome 42
Scott-Taor Syndrome 42


Classifications:



Characteristics (Orphanet epidemiological data):

48
stiff man syndrome:
Prevalence: 1-9/1000000 (Europe); Age of onset: Adult; Age of death: normal life expectancy


External Ids:

Disease Ontology8 DOID:13366
MeSH33 D016750
ICD9CM27 333.91
NCIt39 C85170
SNOMED-CT56 5217008
Orphanet48 3198
ICD10 via Orphanet26 G25.8
UMLS via Orphanet62 C0085292

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 man syndrome, is related to limbic encephalitis and encephalitis. An important gene associated with Stiff-Person Syndrome is TBX4 (T-box 4), and among its related pathways are Ligand-gated ion channel transport and GABA signaling in brain. The compounds bilobalide and ginkgolide x have been mentioned in the context of this disorder. Affiliated tissues include thyroid, brain and spinal cord, and related mouse phenotypes are respiratory system and no phenotypic analysis.

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

Related Diseases for Stiff-Person Syndrome

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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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Drugs & Therapeutics for Stiff-Person Syndrome

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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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MalaCards organs/tissues related to Stiff-Person Syndrome:

31
Thyroid, Brain, Spinal cord, Testes, Breast, T cells, Eye, Cortex, Colon, Bone marrow, Bone, Lung, B cells

Animal Models for Stiff-Person Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Stiff-Person Syndrome:

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053888.5TH, GAD2, GAD1, GLRA1, GPHN
2MP:00030128.5TH, INS, TBX4, GLRA1, GAD1, GAD2
3MP:00053788.4GAD2, GAD1, GLRA1, INS, TH, GLRB
4MP:00053898.3GLRB, INS, GAD2, AMPH, GLRA1
5MP:00053798.1TH, GAD2, AMPH, INS, GLRB, GAD1
6MP:00028737.7GAD1, GABARAP, GAD2, TBX4, INS, GPHN
7MP:00053867.5GPHN, INS, AMPH, GLRB, GAD2, GLRA1
8MP:00036317.2TBX4, INS, AMPH, GLRB, GLRA1, GAD1
9MP:00107687.2GAD2, GAD1, GLRB, TBX4, AMPH, INS

Publications for Stiff-Person Syndrome

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Articles related to Stiff-Person Syndrome:

(show top 50)    (show all 217)
idTitleAuthorsYear
1
Focal gradual-onset variant of stiff-person syndrome. (25636820)
2015
2
Latent autoimmune diabetes in Stiff-Person Syndrome. (25249677)
2014
3
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
4
LADA type diabetes, celiac diasease, cerebellar ataxia and stiff person syndrome. A rare association of autoimmune disorders. (25087381)
2014
5
Reducing excess stiffness in Stiff Person Syndrome using CBT: A case study. (25238861)
2014
6
Stiff person syndrome: a case report. (25095302)
2014
7
A case of childhood stiff-person syndrome with striatal lesions: a possible entity distinct from the classical adult form. (22944247)
2013
8
Extremely rare coincidence of non-radiographic axial spondyloarthropathy HLA-B27 positive and Stiff Person Syndrome - rheumatologist point of view. (24289195)
2013
9
Treatment of stiff-person syndrome with chronic plasmapheresis. (23239368)
2013
10
Glycine receptor antibodies in stiff-person syndrome and other GAD-positive CNS disorders. (24174585)
2013
11
Human Stiff person syndrome IgG-containing high-titer anti-GAD65 autoantibodies induce motor dysfunction in rats. (23099416)
2013
12
Stiff Person syndrome and other anti-GAD-associated neurologic disorders. (23677666)
2012
13
Physical therapist management of stiff person syndrome in a 24-year-old woman. (21737522)
2011
14
The occurrence of stiff person syndrome in a patient with thymoma: case report and literature review. (20509396)
2010
15
Urodynamic study alterations in a patient with stiff person syndrome. (20438592)
2010
16
Successful 'passive transfer' of paraneoplastic stiff person syndrome with antibodies to an intracellular antigen. (21030432)
2010
17
Long-lived plasma cells and memory B cells produce pathogenic anti-GAD65 autoantibodies in Stiff Person Syndrome. (20520773)
2010
18
A critical update on the immunopathogenesis of Stiff Person Syndrome. (20636380)
2010
19
Effects of immunotherapy on motor cortex excitability in Stiff Person Syndrome. (19820984)
2010
20
Stiff person syndrome presenting with sudden onset of shortness of breath and difficulty moving the right arm: a case report. (20423476)
2010
21
Stiff-person syndrome: persistent elevation of glutamic acid decarboxylase antibodies despite successful treatment with rituximab. (20577094)
2010
22
Stiff person syndrome associated with lower motor neuron disease and infiltration of cytotoxic T cells in the spinal cord. (19616370)
2009
23
Stiff-person syndrome with amphiphysin antibodies: distinctive features of a rare disease. (18971449)
2008
24
Stiff eyes in stiff-person syndrome. (18663186)
2008
25
GAD65 IgG autoantibodies in stiff person syndrome: clonality, avidity and persistence. (18637036)
2008
26
Levetiracetam in stiff-person syndrome. (18769864)
2008
27
Successful intrathecal baclofen therapy for seronegative stiff-person syndrome: a case report. (18975523)
2008
28
GAD antibody positive paraneoplastic stiff person syndrome in a patient with renal cell carcinoma. (17486640)
2007
29
Stiff-person syndrome. (17445501)
2007
30
Stiff person syndrome with cerebellar disease and high-titer anti-GAD antibodies. (17404205)
2007
31
Scleritis in a person with stiff-person syndrome. (17365806)
2007
32
A patient with post-traumatic stress disorder developing stiff person syndrome: is there a correlation? (17558259)
2007
33
A rare saccade velocity profile in Stiff-Person Syndrome with cerebellar degeneration. (16725126)
2006
34
Physical therapy during in-patient rehabilitation for a patient with Stiff-Person Syndrome. (16630369)
2006
35
Eye movement abnormalities in stiff person syndrome. (16275836)
2005
36
Stiff-person syndrome. (15140273)
2004
37
Stiff person syndrome does not always occur with maternal passive transfer of GAD65 antibodies. (15184624)
2004
38
Stiff-person syndrome: a rare presentation for breast cancer. (15569219)
2004
39
Humoral and cellular autoimmune responses in stiff person syndrome. (14592879)
2003
40
Progressive encephalomyelitis with rigidity presenting as a stiff-person syndrome. (12039424)
2002
41
Stiff person syndrome and myasthenia gravis. (11960163)
2002
42
The stiff-person syndrome. Case report. (12538969)
2002
43
Anaesthetic management of a patient with Stiff-person syndrome. (11966568)
2002
44
Atypical low back pain: stiff-person syndrome. (12027316)
2002
45
Improvement of stiff-person syndrome with tiagabine. (11468338)
2001
46
Stiff-person syndrome: autoimmunity and the central nervous system. (15999029)
2001
47
Stiff person syndrome. (11361276)
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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Clinvar genetic disease variations for Stiff-Person Syndrome:

5
id Gene Variation Type Significance SNP ID Assembly Location
1TBX4NM_018488.2(TBX4): c.743G> T (p.Gly248Val)single nucleotide variantPathogenicrs28938474GRCh37Chr 17, 59557282: 59557282
2TBX4NM_018488.2(TBX4): c.184C> T (p.Gln62Ter)single nucleotide variantPathogenicrs104894648GRCh37Chr 17, 59534035: 59534035
3TBX4NM_018488.2(TBX4): c.1592A> G (p.Gln531Arg)single nucleotide variantPathogenicrs28936696GRCh37Chr 17, 59560831: 59560831

Expression for genes affiliated with Stiff-Person Syndrome

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

Pathways for genes affiliated with Stiff-Person Syndrome

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Pathways related to Stiff-Person Syndrome according to GeneCards Suite gene sharing:

(show all 19)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.9GLRA1, GLRB
29.6INS, TH
3
Show member pathways
Serotonin Transporter Activity36
9.5AMPH, TH
49.4GAD2, GAD1, ABAT
5
Show member pathways
9.4GAD2, GAD1, ABAT
69.4GAD2, GAD1, ABAT
7
Show member pathways
9.4ABAT, GAD1, GAD2
8
Show member pathways
9.4ABAT, GAD1, GAD2
9
Show member pathways
phenylethylamine degradation I36
9.4ABAT, GAD1, GAD2
109.4TH, GAD1, GAD2
11
Show member pathways
catecholamine biosynthesis36
9.4GAD2, GAD1, TH
129.4GABARAP, INS
13
Show member pathways
9.4GAD2, GAD1, INS
14
Show member pathways
9.0CSAD, GAD1, GAD2
15
Show member pathways
9.0CSAD, GAD1, GAD2
16
Show member pathways
7.9GAD2, GABARAP, GAD1, GPHN, TH, ABAT
17
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 Suite gene sharing:

(show top 50)    (show all 59)
idCompoundScoreTop Affiliating Genes
1bilobalide2810.3GLRA1, GLRB
2ginkgolide x2810.3GLRA1, GLRB
3cyanotriphenylborate2810.3GLRA1, GLRB
4picrotin2810.3GLRB, GLRA1
5pregnenolone sulphate2810.3GLRA1, GLRB
6ginkgolide b28 44 6012.2GLRB, GLRA1
7tropisetron28 4411.2GLRB, GLRA1
8lindane44 1111.2GLRB, GLRA1
9picrotoxinin1 44 2812.2GLRB, GLRA1
10succinic semialdehyde4410.1ABAT, GAD1
11zn2+2810.1GLRB, GLRA1
12ibotenic acid4410.1TH, GAD1
13l-serine60 28 24 1113.0GLRA1, GLRB
14baclofen44 1111.0ABAT, GAD1
15pyridoxal44 24 1112.0GAD2, GAD1
16strychnine44 1 2811.9GLRA1, GPHN
17l-alanine60 28 24 1112.9ABAT, GLRA1, GLRB
18L-Aspartic acid24 1110.9GAD2, GAD1
19glycine28 24 1111.9GLRA1, GLRB
20pyridoxal 5-phosphate449.8GAD2, GAD1, ABAT
21famotidine44 1 24 1112.8GAD1, GAD2, ABAT
22mptp449.8TH, GAD1, GAD2
23picrotoxin44 28 1111.8GLRA1, GLRB
24l-glutamic acid28 24 1111.8ABAT, GAD1, GAD2
25muscimol44 60 2811.8GAD1, ABAT
26valproate449.8TH, GAD1, ABAT
27tetrodotoxin44 60 2811.8GAD2, GAD1, TH
28pterin44 2410.7TH, GPHN
29c-peptide449.7INS, GAD1, GAD2
30ornithine44 2410.7ABAT, GAD1, GAD2
31kainate44 2810.7GAD2, GAD1, TH
32choline44 24 1111.7GAD1, GAD2, TH
33levodopa44 1110.4GAD1, TH, ABAT, GAD2
34Cysteic acid249.4GAD2, GAD1, CSAD
35cysteine sulfinic acid449.4GAD2, CSAD, GAD1
363-Sulfinoalanine24 1110.4GAD2, CSAD, GAD1
37gnrh449.4INS, GAD1, TH
38dopamine44 28 24 1112.3GAD2, GAD1, ABAT, TH
39carbon dioxide44 2410.3CSAD, GAD2, GAD1
40beta-alanine44 60 28 24 1113.3ABAT, GLRB, GLRA1, GAD1, GAD2
41Gamma-Aminobutyric acid249.3ABAT, GAD1, GABARAP, GAD2
42acetylcholine44 50 28 24 1113.3AMPH, GAD1, TH, GAD2
43Pyridoxal 5'-phosphate249.0CSAD, GAD1, GAD2, ABAT
44nmda44 2810.0GAD2, GAD1, GLRB, GPHN, TH
45alanine448.9INS, GAD1, GAD2, ABAT, TH
46hypotaurine60 44 2410.9GLRB, GAD2, GAD1, GLRA1, CSAD
47taurine44 60 2410.5GAD1, GAD2, GLRB, CSAD, GLRA1, ABAT
48gaba448.3GABARAP, GAD1, GPHN, ABAT, TH, GAD2
49nitric oxide44 24 1110.3ABAT, CSAD, GAD1, GAD2
50glutamate446.9GAD2, ABAT, INS, AMPH, CSAD, GLRA1

GO Terms for genes affiliated with Stiff-Person Syndrome

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Cellular components related to Stiff-Person Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1chloride channel complexGO:00347079.9GLRA1, GLRB
2clathrin-sculpted gamma-aminobutyric acid transport vesicle membraneGO:00612029.9GAD2, GAD1
3smooth endoplasmic reticulumGO:00057909.4TH, GABARAP
4synaptic vesicle membraneGO:00306729.3GAD2, AMPH
5postsynaptic membraneGO:00452119.3GLRA1, GLRB, GPHN
6cell junctionGO:00300548.6GAD2, GLRA1, GLRB, AMPH, GPHN

Biological processes related to Stiff-Person Syndrome according to GeneCards Suite gene sharing:

(show all 14)
idNameGO IDScoreTop Affiliating Genes
1synaptic transmission, glycinergicGO:006001210.1GLRB, GLRA1
2righting reflexGO:006001310.1GLRA1, GLRB
3startle responseGO:000196410.1GLRB, GLRA1
4glutamate decarboxylation to succinateGO:000654010.0GAD1, GAD2
5acrosome reactionGO:000734010.0GLRA1, GLRB
6adult walking behaviorGO:000762810.0GLRA1, GLRB
7chloride transmembrane transportGO:019024769.9GLRB, GLRA1
8regulation of membrane potentialGO:00423919.9GLRA1, GLRB
9neurotransmitter biosynthetic processGO:00421369.7GAD2, GAD1, TH
10neurotransmitter secretionGO:00072699.7GAD2, GAD1, ABAT
11visual perceptionGO:00076019.6GLRA1, GLRB, TH
12response to drugGO:00424939.3GAD2, GAD1, ABAT
13learningGO:00076129.2AMPH, TH
14synaptic transmissionGO:00072688.3GAD2, ABAT, AMPH, GLRB, GAD1, GABARAP

Molecular functions related to Stiff-Person Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1extracellular-glycine-gated chloride channel activityGO:00169349.9GLRA1, GLRB
2glutamate decarboxylase activityGO:00043519.9GAD1, GAD2
3glutamate bindingGO:00165959.7GAD2, GAD1
4glycine bindingGO:00165949.6GLRB, GLRA1
5pyridoxal phosphate bindingGO:00301708.7GAD2, GAD1, CSAD, ABAT
6protein bindingGO:00055157.2GAD2, GABARAP, GAD1, GLRA1, GLRB, AMPH

Sources for Stiff-Person Syndrome

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2CDC
12ExPASy
13FDA
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet