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:
9Disease Ontology, 41NIH Rare Diseases, 42NINDS, 11DISEASES, 43Novoseek, 47Orphanet, 60UMLS, 33MeSH, 27ICD9CM, 38NCIt, 55SNOMED-CT, 26ICD10 via Orphanet, 61UMLS via Orphanet
See all sources

Stiff-Person Syndrome, Aliases & Descriptions:

Name: Stiff-Person Syndrome 9 42 11 60
Stiff Man Syndrome 9 41 47
Moersch-Woltman Syndrome 41 47
Small Patella Syndrome 41 60
Stiff Person Syndrome 41 47
Stiff-Man Syndrome 9 43
 
Sps 41 47
Coxopodopatellar Syndrome 41
Ischiopatellar Dysplasia 41
Morsch Woltman Syndrome 41
Scott-Taor Syndrome 41


Classifications:

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


Characteristics (Orphanet epidemiological data):

47
stiff man syndrome:
Prevalence: 1-9/1000000 (Europe); Age of onset: Adult; Age of death: normal life expectancy


External Ids:

Disease Ontology9 DOID:13366
MeSH33 D016750
ICD9CM27 333.91
NCIt38 C85170
SNOMED-CT55 5217008
Orphanet47 3198
ICD10 via Orphanet26 G25.8
UMLS via Orphanet61 C0085292

Summaries for Stiff-Person Syndrome

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NINDS:42 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:9 A movement disease that is of unknown etiology characterized by progressive rigidity.

NIH Rare Diseases:41 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:63 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, GPHN, GLRA1, GAD1, GAD2
2MP:00030128.5TH, INS, TBX4, GLRA1, GAD1, GAD2
3MP:00053788.4GAD2, GAD1, GLRA1, GLRB, INS, TH
4MP:00053898.3INS, AMPH, GLRB, GLRA1, GAD2
5MP:00053798.1TH, INS, AMPH, GLRB, GAD1, GAD2
6MP:00028737.7TH, GPHN, INS, TBX4, GAD1, GABARAP
7MP:00053867.5TH, GPHN, INS, AMPH, GLRB, GLRA1
8MP:00036317.2GAD2, TH, GPHN, INS, AMPH, TBX4
9MP:00107687.2TH, GPHN, INS, AMPH, TBX4, GLRB

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:

6
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
9.9GLRB, GLRA1
29.6INS, TH
3
Show member pathways
Serotonin Transporter Activity36
9.5TH, AMPH
49.4GAD2, GAD1, ABAT
5
Show member pathways
phenylethylamine degradation I36
9.4GAD2, GAD1, ABAT
6
Show member pathways
9.4GAD2, GAD1, ABAT
7
Show member pathways
9.4GAD1, ABAT, GAD2
8
Show member pathways
9.4GAD1, GAD2, ABAT
99.4GAD1, GAD2, ABAT
109.4GAD2, GAD1, TH
11
Show member pathways
catecholamine biosynthesis36
9.4GAD2, TH, GAD1
129.4GABARAP, INS
13
Show member pathways
9.4GAD2, GAD1, INS
14
Show member pathways
9.0GAD2, GAD1, CSAD
15
Show member pathways
9.0GAD2, CSAD, GAD1
16
Show member pathways
7.9GPHN, ABAT, TH, GAD1, GABARAP, GAD2
17
Show member pathways
7.2CSAD, GAD1, GAD2, GPHN, TH, ABAT

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 43 5912.2GLRB, GLRA1
7tropisetron28 4311.2GLRB, GLRA1
8lindane43 1211.2GLRB, GLRA1
9picrotoxinin2 43 2812.2GLRB, GLRA1
10succinic semialdehyde4310.1ABAT, GAD1
11zn2+2810.1GLRB, GLRA1
12ibotenic acid4310.1TH, GAD1
13l-serine59 28 24 1213.0GLRA1, GLRB
14baclofen43 1211.0ABAT, GAD1
15pyridoxal43 24 1212.0GAD2, GAD1
16strychnine43 2 2811.9GLRA1, GPHN
17l-alanine59 28 24 1212.9ABAT, GLRA1, GLRB
18L-Aspartic acid24 1210.9GAD2, GAD1
19glycine28 24 1211.9GLRA1, GLRB
20pyridoxal 5-phosphate439.8GAD2, GAD1, ABAT
21famotidine43 2 24 1212.8GAD1, GAD2, ABAT
22mptp439.8TH, GAD1, GAD2
23picrotoxin43 28 1211.8GLRA1, GLRB
24l-glutamic acid28 24 1211.8ABAT, GAD1, GAD2
25muscimol43 59 2811.8GAD1, ABAT
26valproate439.8TH, GAD1, ABAT
27tetrodotoxin43 59 2811.8GAD2, GAD1, TH
28pterin43 2410.7TH, GPHN
29c-peptide439.7INS, GAD1, GAD2
30ornithine43 2410.7ABAT, GAD1, GAD2
31kainate43 2810.7GAD2, GAD1, TH
32choline43 24 1211.7GAD1, GAD2, TH
33levodopa43 1210.4GAD1, TH, ABAT, GAD2
34Cysteic acid249.4GAD2, GAD1, CSAD
35cysteine sulfinic acid439.4GAD2, CSAD, GAD1
363-Sulfinoalanine24 1210.4GAD2, CSAD, GAD1
37gnrh439.4INS, GAD1, TH
38dopamine43 28 24 1212.3GAD2, GAD1, ABAT, TH
39carbon dioxide43 2410.3CSAD, GAD2, GAD1
40beta-alanine43 59 28 24 1213.3ABAT, GLRB, GLRA1, GAD1, GAD2
41Gamma-Aminobutyric acid249.3ABAT, GAD1, GABARAP, GAD2
42acetylcholine43 49 28 24 1213.3AMPH, GAD1, TH, GAD2
43Pyridoxal 5'-phosphate249.0CSAD, GAD1, GAD2, ABAT
44nmda43 2810.0GAD2, GAD1, GLRB, GPHN, TH
45alanine438.9INS, GAD1, GAD2, ABAT, TH
46hypotaurine59 43 2410.9GLRB, GAD2, GAD1, GLRA1, CSAD
47taurine43 59 2410.5GAD1, GAD2, GLRB, CSAD, GLRA1, ABAT
48gaba438.3GABARAP, GAD1, GPHN, ABAT, TH, GAD2
49nitric oxide43 24 1210.3ABAT, CSAD, GAD1, GAD2
50glutamate436.9GAD2, 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:00612029.9GAD1, GAD2
3smooth endoplasmic reticulumGO:00057909.4GABARAP, TH
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:00169349.9GLRB, GLRA1
2glutamate decarboxylase activityGO:00043519.9GAD2, GAD1
3glutamate bindingGO:00165959.7GAD2, GAD1
4glycine bindingGO:00165949.6GLRA1, GLRB
5pyridoxal phosphate bindingGO:00301708.7ABAT, CSAD, GAD1, GAD2
6protein bindingGO:00055157.2GAD1, TH, INS, AMPH, GABARAP, GAD2

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
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet