MCID: STF001
MIFTS: 44

Stiff-Person Syndrome malady

Categories: Rare diseases, Neuronal diseases, Endocrine diseases

Aliases & Classifications for Stiff-Person Syndrome

About this section

Aliases & Descriptions for Stiff-Person Syndrome:

Name: Stiff-Person Syndrome 10 46 12 36 65
Stiff Man Syndrome 10 45
Stiff-Man Syndrome 10 47
 
Morsch Woltman Syndrome 45
Stiff Person Syndrome 45
Sps 45

Classifications:



External Ids:

Disease Ontology10 DOID:13366
ICD1027 G25.82
ICD9CM29 333.91
SNOMED-CT59 5217008
MeSH36 D016750
NCIt42 C85170
UMLS65 C0085292

Summaries for Stiff-Person Syndrome

About this section
NINDS:46 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 tinea profunda and stiff person syndrome and related disorders. An important gene associated with Stiff-Person Syndrome is GAD2 (Glutamate Decarboxylase 2), and among its related pathways are Synaptic Neurotransmission Pathways: GABAergic Inhibition and Taurine and hypotaurine metabolism. Affiliated tissues include thyroid, brain and testes, and related mouse phenotypes are respiratory system and normal.

Disease Ontology:10 A movement disease that is of unknown etiology characterized by progressive rigidity.

NIH Rare Diseases:45 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:68 Stiff person syndrome (SPS) is a rare neurologic disorder of unclear etiology characterized by... more...

Related Diseases for Stiff-Person Syndrome

About this section

Diseases in the Stiff-Person Syndrome family:

Stiff Person Syndrome and Related Disorders

Diseases related to Stiff-Person Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 194)
idRelated DiseaseScoreTop Affiliating Genes
1tinea profunda29.3ABAT, AMPH, GABARAP, GAD1, GAD2, GLRA1
2stiff person syndrome and related disorders12.7
3classic stiff person syndrome12.6
4neonatal acute respiratory distress due to sp-b deficiency12.3
5interstitial lung disease due to sp-c deficiency12.3
6hyperekplexia11.9
7hyperekplexia, hereditary 1, autosomal dominant or recessive11.8
8focal stiff limb syndrome11.6
9small patella syndrome11.3
10leukemia10.4
11lymphoma10.4
12lung cancer10.4
13renal cell carcinoma10.4
14gastric cancer10.4
15hepatitis10.4
16sialadenitis10.4
17thyroiditis10.4
18endotheliitis10.4
19paraneoplastic neurologic disorders10.3
20paraneoplastic syndromes10.3
21neuroblastoma10.3
22colorectal cancer10.3
23systemic lupus erythematosus10.3
24cataract10.3
25chromophobe renal cell carcinoma10.3
26sarcoma10.3
27adenocarcinoma10.3
28retinitis10.3
29myeloid leukemia10.3
30lupus erythematosus10.3
31bacterial meningitis10.3
32meningitis10.3
33cardiomyopathy10.3
34chronic pain10.3
35rheumatoid arthritis10.1
36gastrointestinal stromal tumor10.1
37glomuvenous malformations10.1
38pycnodysostosis10.1
39parathyroid carcinoma10.1
40cinca syndrome10.1
41hepatocellular carcinoma10.1
42asthma10.1
43breast cancer10.1
44attention deficit-hyperactivity disorder10.1
45multiple system atrophy10.1
46osteoporosis10.1
47factor xii deficiency10.1
48cystic fibrosis10.1
49acrodermatitis enteropathica10.1
50multiple myeloma10.1

Graphical network of the top 20 diseases related to Stiff-Person Syndrome:



Diseases related to stiff-person syndrome

Symptoms for Stiff-Person Syndrome

About this section

Drugs & Therapeutics for Stiff-Person Syndrome

About this section

Drugs for Stiff-Person Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 12)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
rituximabapprovedPhase 21582174722-31-710201696
Synonyms:
AntiCD20
IDEC-102
IDEC-C2B8
 
Ig gamma-1 chain C region
MabThera
Mabthera
Rituxan
rituximab
2AntibodiesPhase 2, Phase 14477
3Antibodies, MonoclonalPhase 22413
4Immunologic FactorsPhase 2, Phase 118483
5ImmunoglobulinsPhase 2, Phase 14477
6Antirheumatic AgentsPhase 28496
7Rho(D) Immune GlobulinPhase 1206
8Immunoglobulins, IntravenousPhase 1211
9
Glycineapproved, nutraceutical9456-40-6750
Synonyms:
(1-13c)glycinato
(15N)Glycine
15527_RIEDEL
15527_SIAL
15743-44-9 (mono-potassium salt)
17829-66-2 (cobalt salt)
18875-39-3
2,2-dialkylglycines
2-Aminoacetate
2-Aminoacetic acid
2311-65-1
25718-94-9
29728-27-6 (monoammonium salt)
32817-15-5 (copper salt)
33226_RIEDEL
33226_SIAL
33242-26-1 (calcium salt)
35947-07-0 (calcium salt (2:1))
410225_SIAL
50046_FLUKA
50046_SIGMA
513-29-1 (sulfate (3:1))
52955-63-2
56-40-6
57678-19-0
6000-43-7 (hydrochloride)
6000-44-8 (mono-hydrochloride salt)
63183-41-5 (hydrochloride hydrogen carbonate)
71295-98-2 (phosphate (1:1))
7490-95-1 (hydrochloride (2:1)
7490-95-1 (hydrochloride (2:1))
7575-55-5
848646-45-7
87867-94-5
AB-131/40217813
AB1002628
AC1L19XW
AC1Q28JW
AC1Q53O0
AI3-04085
AKOS000119626
AMINOACETIC ACID 1.5% IN PLASTIC CONTAINER
AR-1A0345
AR-1A0532
Acide aminoacetique
Acide aminoacetique [INN-French]
Acido aminoacetico
Acido aminoacetico [INN-Spanish]
Acidum aminoaceticum
Acidum aminoaceticum [INN-Latin]
Aciport
Amino-Acetate
Amino-Acetic acid
Aminoacetate
Aminoacetic acid
Aminoazijnzuur
Aminoessigsaeure
Aminoethanoate
Aminoethanoic acid
Amitone
B72BA06C-60E9-4A83-A24A-A2D7F465BB65
BPBio1_001222
Biomol-NT_000195
C00037
CCRIS 5915
CHEBI:15428
CHEBI:15705
CHEBI:16228
CHEMBL773
CID750
CPD-8569
Corilin
D00011
DB00145
EINECS 200-272-2
 
FEMA No. 3287
FT-0083159
G
G0099
G0317
G5417_SIGMA
G5523_SIGMA
G7126_SIGMA
G7403_SIGMA
G8790_SIGMA
G8898_SIGMA
GLY (IUPAC abbrev)
GLYCINE 1.5% IN PLASTIC CONTAINER
GLYCINE, ACS
Glicina
Glicina [INN-Spanish]
Glicoamin
Gly
Glycin
Glycine
Glycine (JP15/USP)
Glycine [INN]
Glycine iron sulphate (1:1)
Glycine, homopolymer (VAN)
Glycine, labeled with carbon-14
Glycine, non-medical
Glycine-UL-14C hydrochloride
Glycinum
Glycinum [INN-Latin]
Glycocoll
Glycolixir
Glycosthene
Glykokoll
Glyzin
Gyn-Hydralin
Gyn-hydralin
H-Gly-OH
H2N-CH2-COOH
HSDB 495
Hampshire glycine
Hgly
InChI=1/C2H5NO2/c3-1-2(4)5/h1,3H2,(H,4,5
KST-1A2919
KST-1A8102
L-Glycine
L-alpha-amino acids
L001246
LS-218
Leimzucker
MolPort-000-871-607
NCGC00024503-01
NCGC00024503-02
NChemBio.2007.13-comp1
NSC 25936
NSC25936
P8791_SIGMA
Padil
Polyglycine II
S04-0135
Sucre de gelatine
Tocris-0219
UNII-TE7660XO1C
W328707_ALDRICH
WLN: Z1VQ
aminoacetic acid
an alpha amino acid ester
bmse000089
gly
glycine
nchem.554-comp2
nchembio.121-comp9
nchembio.145-comp33
nchembio.198-comp12
nchembio.265-comp9
nchembio.266-comp30
polyglycine
10Autoantibodies117
11Neurotransmitter Agents14795
12Glutamic AcidNutraceutical201

Interventional clinical trials:

idNameStatusNCT IDPhase
1Rituximab to Treat Stiff Person SyndromeCompletedNCT00091897Phase 2
2Stem Cell Transplantation for Stiff Person Syndrome (SPS)RecruitingNCT02282514Phase 1, Phase 2
3Intravenous Immunoglobulin (IVIg) for the Treatment of Stiff-Man Syndrome (SMS)CompletedNCT00001550Phase 1
4Cause, Development, and Progression of Stiff-Person SyndromeCompletedNCT00030940
5Effects of Mutations of the Glycine Gene Associated With Hyperekplexia on Central Pain ProcessingTerminatedNCT01476514

Search NIH Clinical Center for Stiff-Person Syndrome


Cochrane evidence based reviews: stiff-person syndrome

Genetic Tests for Stiff-Person Syndrome

About this section

Anatomical Context for Stiff-Person Syndrome

About this section

MalaCards organs/tissues related to Stiff-Person Syndrome:

33
Thyroid, Brain, Testes, Spinal cord, Heart, Breast, Liver

Animal Models for Stiff-Person Syndrome or affiliated genes

About this section

MGI Mouse Phenotypes related to Stiff-Person Syndrome:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053888.6GAD1, GAD2, GLRA1, GPHN, TH
2MP:00028738.5GABARAP, GAD1, GAD2, GPHN, TH
3MP:00053797.8AMPH, GAD1, GAD2, GLRA1, GLRB, TH
4MP:00053867.1AMPH, GAD1, GAD2, GLRA1, GLRB, GPHN
5MP:00107687.1AMPH, GAD1, GAD2, GLRA1, GLRB, GPHN
6MP:00036317.0AMPH, GAD1, GAD2, GLRA1, GLRB, GPHN

Publications for Stiff-Person Syndrome

About this section

Articles related to Stiff-Person Syndrome:

(show top 50)    (show all 230)
idTitleAuthorsYear
1
PML isoform II plays a critical role in nuclear lipid droplet formation. (26728854)
2016
2
Tissue Factor Pathway Inhibitor-2 Gene Polymorphisms Associate With Coronary Atherosclerosis in Chinese Population. (26496276)
2015
3
The primary structure of COMT gene is not involved in the diet shift of the giant or the red pandas. (25748822)
2015
4
Health literacy and medication administration performance by caregivers of adults with developmental disabilities. (25615819)
2015
5
Alveolar Capillary Dysplasia as a Cause of Persistent Pulmonary Hypertension. (26615352)
2015
6
SHEDDING LIGHT ON FUNDUS DRUSEN ASSOCIATED WITH MEMBRANOPROLIFERATIVE GLOMERULONEPHRITIS: BREAKING STEREOTYPES OF TYPES I, II, AND III. (26110522)
2015
7
Perioperative management of catecholamine-secreting glomus jugulare tumors. (25083379)
2014
8
Genetic association studies of endothelial nitric oxide synthase gene polymorphisms in women with unexplained recurrent pregnancy loss: a systematic and meta-analysis. (24562681)
2014
9
Thrombocytopenia in an adult. (23751903)
2013
10
Dysautonomia: perioperative implications. (22143168)
2012
11
Hepatitis C and hepatitis B virus infection: epidemiology and risk factors in a large cohort of pregnant women in Lorestan, West of Iran. (22235217)
2011
12
Increased frequency of occult fragile X-associated primary ovarian insufficiency in infertile women with evidence of impaired ovarian function. (21646280)
2011
13
Rosacea (erythematotelangiectatic type) effectively improved by topical xylometazoline. (21352348)
2011
14
Why is Southern African canine babesiosis so virulent? An evolutionary perspective. (21489239)
2011
15
Osteopoikilosis and multiple exostoses caused by novel mutations in LEMD3 and EXT1 genes respectively--coincidence within one family. (20618940)
2010
16
An evaluation of children with Kawasaki disease in Istanbul: a retrospective follow-up study. (21340213)
2010
17
DLC1 tumor suppressor gene inhibits migration and invasion of multiple myeloma cells through RhoA GTPase pathway. (18923442)
2009
18
The involvement of human amnion in histologic chorioamnionitis is an indicator that a fetal and an intra-amniotic inflammatory response is more likely and severe: clinical implications. (19046766)
2009
19
P2Y2 receptor-mediated Ca2+ signaling and spontaneous Ca2+ releases in human valvular myofibroblasts. (18475022)
2008
20
Characterization of novel CYP2C8 haplotypes and their contribution to paclitaxel and repaglinide metabolism. (17923851)
2008
21
Extranodal plasmablastic lymphoma arising in mantle cell lymphoma. (17903200)
2007
22
Increased levels of cyclins D1 and D3 after inhibition of gap junctional communication in astrocytes. (16412096)
2006
23
Acute postpartum uterine inversion with haemorrhagic shock. (16956329)
2006
24
Novel adopted immunotherapy for mixed chimerism after unrelated cord blood transplantation in Omenn syndrome. (16191096)
2005
25
Genotype-phenotype correlation in 2 Indian families with severe granular corneal dystrophy. (16087849)
2005
26
The increase of antiglomerular basement membrane antibody following pauci-immune-type crescentic glomerulonephritis. (15830277)
2005
27
Atypical antipsychotics: matching receptor profile to individual patient's clinical profile. (15475871)
2004
28
Pharyngeal pituitary non-functioning adenoma with normal intra-sellar gland: massive tumor shrinkage on octreotide therapy. (12611618)
2003
29
(99m)Tc-HMPAO (Ceretec) is stored in and released from the granules of eosinophil granulocytes. (11472366)
2001
30
Loss of heterozygosity on chromosome 3 in sporadic colorectal carcinoma]. (11798895)
2001
31
Molecular cloning of rabbit hyaluronic acid synthases and their expression patterns in synovial membrane and articular cartilage. (11470161)
2001
32
Detection of the 20-kDa virulence-associated antigen of Rhodococcus equi in malakoplakia-like lesion in pleural tissue obtained from an AIDS patient. (10834389)
2000
33
A case of cutaneous polyarteritis nodosa associated with ulcerative colitis. (10777260)
2000
34
Mutational spectrum in the Delta7-sterol reductase gene and genotype- phenotype correlation in 84 patients with Smith-Lemli-Opitz syndrome. (10677299)
2000
35
Stress-activated protein kinase-dependent induction of c-fos by Cd(2+) is mediated by MKK7. (10873670)
2000
36
Mutations of the p53 gene in nasal NK/T-cell lymphoma. (10780666)
2000
37
Expression of tissue factor in non-small-cell lung cancers and its relationship to metastasis. (10027315)
1999
38
Successful resuscitation after bolus injection of tissue-type plasminogen activator in emergency admission]. (9558441)
1998
39
Evidence for involvement of trans-acting factors in selection of the AUG start codon during eukaryotic translational initiation. (8668168)
1996
40
The identification of proteoglycan-associated mRNAs in human dental pulp cells. (9068875)
1996
41
The role of gonadal hormones in gene expression of calbindin (Mr 28,000) in the laying hen. (8812346)
1996
42
Cutaneous stigmata of occult spinal dysraphism. (7962743)
1994
43
Direct observation of kinesin stepping by optical trapping interferometry. (8413650)
1993
44
Intervertebral disc disease. (1641922)
1992
45
Systemic lupus erythematosus and Klinefelter's syndrome. (921838)
1977
46
Arcus senilis corneae--its relationship to serum lipids in the South African Bantu. (5822930)
1969
47
Congenital lipomatosis of the pancreas. Malabsorption, dwarfism, leukopenia with relative granulocytopenia and thrombocytopenia. (5665293)
1968
48
Surgical considerations for treatment of congenital tricuspid atresia and stenosis: with particular reference to vena cava-pulmonary artery anastomosis. (13871183)
1962
49
50

Variations for Stiff-Person Syndrome

About this section

Expression for genes affiliated with Stiff-Person Syndrome

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

Pathways for genes affiliated with Stiff-Person Syndrome

About this section

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

(show all 13)
idSuper pathwaysScoreTop Affiliating Genes
19.8GAD1, GAD2
29.8GAD1, GAD2
3
Show member pathways
9.4AMPH, TH
4
Show member pathways
9.3ABAT, GAD1, GAD2
5
Show member pathways
9.3ABAT, GAD1, GAD2
6
Show member pathways
9.3ABAT, GAD1, GAD2
79.3ABAT, GAD1, GAD2
8
Show member pathways
9.3ABAT, GAD1, GAD2
9
Show member pathways
9.3ABAT, GAD1, GAD2
10
Show member pathways
9.3GLRA1, GLRB
11
Show member pathways
9.2GAD1, GAD2, TH
129.2GAD1, GAD2, TH
13
Show member pathways
7.7ABAT, GABARAP, GAD1, GAD2, GPHN, TH

GO Terms for genes affiliated with Stiff-Person Syndrome

About this section

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

idNameGO IDScoreTop Affiliating Genes
1clathrin-sculpted gamma-aminobutyric acid transport vesicle membraneGO:006120210.1GAD1, GAD2
2synaptic vesicle membraneGO:00306729.9AMPH, GAD2
3dendriteGO:00304258.2GLRA1, GLRB, GPHN, TH

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

(show all 10)
idNameGO IDScoreTop Affiliating Genes
1neurotransmitter biosynthetic processGO:00421369.9GAD1, TH
2synaptic transmission, glycinergicGO:00600129.9GLRA1, GLRB
3righting reflexGO:00600139.8GLRA1, GLRB
4neurotransmitter secretionGO:00072699.8ABAT, GAD1
5startle responseGO:00019649.6GLRA1, GLRB
6neuropeptide signaling pathwayGO:00072189.6GLRA1, GLRB
7adult walking behaviorGO:00076289.6GLRA1, GLRB
8response to amino acidGO:00432009.5GLRA1, GLRB
9protein heterooligomerizationGO:00512919.2GLRA1, GLRB
10synaptic transmissionGO:00072688.2ABAT, GABARAP, GLRA1, GLRB

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

idNameGO IDScoreTop Affiliating Genes
1glycine bindingGO:00165949.6GLRA1, GLRB
2extracellular ligand-gated ion channel activityGO:00052309.3GLRA1, GLRB

Sources for Stiff-Person Syndrome

About this section
2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet