MCID: STF001
MIFTS: 54

Stiff-Person Syndrome malady

Categories: Rare diseases, Neuronal diseases, Endocrine diseases

Aliases & Classifications for Stiff-Person Syndrome

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Sources:
50OMIM, 11Disease Ontology, 46NIH Rare Diseases, 47NINDS, 13DISEASES, 52Orphanet, 48Novoseek, 37MeSH, 66UMLS, 28ICD10, 30ICD9CM, 43NCIt, 29ICD10 via Orphanet, 67UMLS via Orphanet, 60SNOMED-CT, 62The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Stiff-Person Syndrome:

Name: Stiff-Person Syndrome 50 11 47 13 37 66
Stiff Man Syndrome 11 46 52
Stiff-Man Syndrome 11 48
Sps 46 52
Progressive Encephalomyelitis with Rigidity and Myoclonus 52
Progressive Encephalomyelitis with Rigidity 66
Stiff Person Syndrome and Related Disorders 52
Classic Stiff Person Syndrome 52
Focal Stiff-Person Syndrome 52
 
Focal Stiff Limb Syndrome 52
Moersch-Woltman Syndrome 52
Morsch Woltman Syndrome 46
Stiff Person Syndrome 46
Stiff Leg Syndrome 52
Classic Sps 52
Perm 52
Sms 52

Characteristics:

Orphanet epidemiological data:

52
stiff man syndrome:
Inheritance: Not applicable; Prevalence: 1-9/1000000 (Europe),1-9/1000000 (United Kingdom),<1/1000000 (Tanzania, United Republic of); Age of onset: Adult; Age of death: normal life expectancy
progressive encephalomyelitis with rigidity and myoclonus:
Inheritance: Not applicable; Age of onset: Adult
classic stiff person syndrome:
Inheritance: Not applicable; Age of onset: Adult; Age of death: adult,elderly
focal stiff-person syndrome:
Inheritance: Not applicable

HPO:

62
stiff-person syndrome:
Onset and clinical course: adult onset
Inheritance: sporadic


Classifications:



External Ids:

OMIM50 184850
Disease Ontology11 DOID:13366
ICD1028 G25.82
ICD9CM30 333.91
MeSH37 D016750
SNOMED-CT60 5217008
NCIt43 C85170
ICD10 via Orphanet29 G25.8, G04.8
UMLS via Orphanet67 C0085292

Summaries for Stiff-Person Syndrome

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OMIM:50 The stiff-person syndrome (SPS) is most often an adult-onset sporadic acquired disorder characterized by progressive... (184850) more...

MalaCards based summary: Stiff-Person Syndrome, also known as stiff man syndrome, is related to sm-ahnmd and smith-magenis syndrome, and has symptoms including muscle rigidity, muscle spasticity and torticollis. 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 Alanine, aspartate and glutamate metabolism. Affiliated tissues include thyroid, spinal cord and brain, and related mouse phenotypes are respiratory system and no phenotypic analysis.

Disease Ontology:11 A movement disease that is of unknown etiology characterized by progressive rigidity.

NIH Rare Diseases:46 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

NINDS:47 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.

Wikipedia:69 Stiff person syndrome (SPS), also known as Stiff man syndrome (SMS), is a rare neurologic disorder of... more...

Related Diseases for Stiff-Person Syndrome

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

(show top 50)    (show all 107)
idRelated DiseaseScoreTop Affiliating Genes
1sm-ahnmd12.1
2smith-magenis syndrome11.8
3snyder-robinson syndrome11.6
4hyperekplexia11.5
5hyperekplexia, hereditary 1, autosomal dominant or recessive11.2
6tinea profunda11.2
7mental retardation, x-linked, snyder-robinson type11.2
8osteoporosis11.1
9corneal dystrophy, congenital stromal11.0
10extratemporal epilepsy11.0
11hand dermatosis11.0
12steatocystoma multiplex10.9
13singleton merten syndrome10.9
14surfactant metabolism dysfunction, pulmonary, 110.9
15surfactant metabolism dysfunction, pulmonary, 210.9
16small patella syndrome10.9
17silver-russell syndrome10.9
18systemic mastocytosis10.8
19myxozoa10.5
20cryptogenic organizing pneumonia10.3GLRA1, GLRB
21thymoma10.3
22ataxia10.3
23mastocytosis10.2
24dyskinetic cerebral palsy10.2GAD1, GAD2
25acromegaly10.2
26cerebellar ataxia10.2
27breast cancer10.1
28deafness, autosomal recessive 10110.1GLRA1, GPHN
29hyperlipidemia type 310.1
30adult brain stem glioma10.1AMPH, GAD2
31lymphoma10.1
32thyroiditis10.1
33neuronitis10.1
34complement component deficiency10.1GLRA1, GPHN
35pneumonia10.1
36celiac disease10.0
37myasthenia gravis10.0
38respiratory failure10.0
39dermatitis10.0
40cerebellar disease10.0
41cerebritis10.0
42autoimmune thyroiditis10.0
43dermatitis herpetiformis10.0
44encephalitis10.0
45limbic encephalitis10.0
46myoclonus10.0
47spasticity10.0
48spotted fever10.0
49sequeiros sack syndrome9.9AMPH, GAD1, GAD2
50endotheliitis9.9

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 20)
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 myoclonic spasms HP:0003739
18 axial muscle stiffness HP:0006921
19 proximal limb muscle stiffness HP:0007066
20 asymmetric limb muscle stiffness HP:0007156

UMLS symptoms related to Stiff-Person Syndrome:


muscle rigidity, muscle spasticity, torticollis, cogwheel rigidity, opisthotonus, hyperexplexia, drop attack, increased sweating, abnormal muscle tone, anal sphincter atony, nuchal rigidity

Drugs & Therapeutics for Stiff-Person Syndrome

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

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
rituximabPhase 21611174722-31-710201696
Synonyms:
AntiCD20
IDEC-102
IDEC-C2B8
 
Ig gamma-1 chain C region
MabThera
Mabthera
Rituxan
rituximab
2
GlycineNutraceutical19856-40-6750
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

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

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Anatomical Context for Stiff-Person Syndrome

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MalaCards organs/tissues related to Stiff-Person Syndrome:

34
Thyroid, Spinal cord, Brain, Testes, Breast, Eye, T cells

Animal Models for Stiff-Person Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Stiff-Person Syndrome:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053888.5GAD1, GAD2, GLRA1, GPHN, TH
2MP:00030128.4GAD1, GAD2, GLRA1, INS, TH
3MP:00028737.3GABARAP, GAD1, GAD2, GPHN, INS, TH
4MP:00107686.8AMPH, GAD1, GAD2, GLRA1, GLRB, GPHN
5MP:00053796.8AMPH, GAD1, GAD2, GLRA1, GLRB, INS
6MP:00036316.7AMPH, GAD1, GAD2, GLRA1, GLRB, GPHN
7MP:00053866.7AMPH, GAD1, GAD2, GLRA1, GLRB, GPHN

Publications for Stiff-Person Syndrome

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Articles related to Stiff-Person Syndrome:

(show top 50)    (show all 248)
idTitleAuthorsYear
1
Anesthetic Considerations of Stiff-Person Syndrome: A Case Report. (27501653)
2016
2
Stiff person syndrome and other immune-mediated movement disorders - new insights. (27262149)
2016
3
Role of osteopathic manipulative treatment in the management of stiff person syndrome. (26024334)
2015
4
Therapeutic plasma exchange in two patients with stiff-person syndrome. (26407506)
2015
5
Latent autoimmune diabetes in Stiff-Person Syndrome. (25249677)
2014
6
LADA type diabetes, celiac diasease, cerebellar ataxia and stiff person syndrome. A rare association of autoimmune disorders. (25087381)
2014
7
Reducing excess stiffness in Stiff Person Syndrome using CBT: A case study. (25238861)
2014
8
Stiff person syndrome: a case report. (25095302)
2014
9
Anti glutamate-decarboxylase antibodies: a liaison between localisation related epilepsy, stiff-person syndrome and type-1 diabetes mellitus. (25509368)
2014
10
Evidence of T-cell mediated neuronal injury in stiff-person syndrome with anti-amphiphysin antibodies. (24405658)
2013
11
Stiff person syndrome. (23186907)
2013
12
Stiff person syndrome improvement with chemotherapy in a patient with cutaneous T cell lymphoma. (23605684)
2013
13
Orthostatic tremor heralding the onset of stiff-person syndrome. (24005337)
2013
14
Anti-GAD positive stiff-person syndrome and cerebellar ataxia: two treatable conditions that clinicians should be aware of. (22990718)
2012
15
Pregnancy and stiff person syndrome. (22340934)
2012
16
Atypical clinically diagnosed stiff-person syndrome response to dantrolene--a refractory case. (22334188)
2012
17
Stiff person syndrome and rituximab. (22987710)
2012
18
Physical therapist management of stiff person syndrome in a 24-year-old woman. (21737522)
2011
19
Stiff-person syndrome presenting as eating disorder: a case report. (20186723)
2011
20
Stiff-person syndrome following tick-borne meningoencephalitis. (22283113)
2011
21
Successful 'passive transfer' of paraneoplastic stiff person syndrome with antibodies to an intracellular antigen. (21030432)
2010
22
Long-lived plasma cells and memory B cells produce pathogenic anti-GAD65 autoantibodies in Stiff Person Syndrome. (20520773)
2010
23
A critical update on the immunopathogenesis of Stiff Person Syndrome. (20636380)
2010
24
Effects of immunotherapy on motor cortex excitability in Stiff Person Syndrome. (19820984)
2010
25
Stiff-person syndrome: persistent elevation of glutamic acid decarboxylase antibodies despite successful treatment with rituximab. (20577094)
2010
26
Stiff-person syndrome: commonly mistaken for hysterical paralysis. (19473753)
2009
27
Stiff-person syndrome with amphiphysin antibodies: distinctive features of a rare disease. (18971449)
2008
28
Stiff eyes in stiff-person syndrome. (18663186)
2008
29
Levetiracetam in stiff-person syndrome. (18769864)
2008
30
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
31
GAD antibody positive paraneoplastic stiff person syndrome in a patient with renal cell carcinoma. (17486640)
2007
32
Stiff person syndrome with cerebellar disease and high-titer anti-GAD antibodies. (17404205)
2007
33
Scleritis in a person with stiff-person syndrome. (17365806)
2007
34
A patient with post-traumatic stress disorder developing stiff person syndrome: is there a correlation? (17558259)
2007
35
Physical therapy during in-patient rehabilitation for a patient with Stiff-Person Syndrome. (16630369)
2006
36
Eye movement abnormalities in stiff person syndrome. (16275836)
2005
37
A neuropsychological assessment of phobias in patients with stiff person syndrome. (15955955)
2005
38
A step forward for stiff-person syndrome. (15836869)
2005
39
Brain gamma-aminobutyric acid changes in stiff-person syndrome. (15956168)
2005
40
The role of IVIg in the treatment of patients with stiff person syndrome and other neurological diseases associated with anti-GAD antibodies. (15959668)
2005
41
Stiff-person syndrome. (15140273)
2004
42
Anti-glutamic acid decarboxylase antibodies in the serum and cerebrospinal fluid of patients with stiff-person syndrome: correlation with clinical severity. (15210528)
2004
43
Neuropathology and binding studies in anti-amphiphysin-associated stiff-person syndrome. (12874398)
2003
44
Stiff person syndrome and anesthesia: case report. (12873941)
2003
45
Stiff person syndrome and myasthenia gravis. (11960163)
2002
46
The stiff-person syndrome. Case report. (12538969)
2002
47
Improvement of stiff-person syndrome with tiagabine. (11468338)
2001
48
Stiff person syndrome: quantification, specificity, and intrathecal synthesis of GAD65 antibodies. (11552003)
2001
49
Motor cortex excitability in stiff-person syndrome. (11050023)
2000
50
Stiff-person syndrome: an autoimmune disease. (2005917)
1991

Variations for Stiff-Person Syndrome

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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 15)
idSuper pathwaysScoreTop Affiliating Genes
19.8GAD1, GAD2
29.8GAD1, GAD2
3
Show member pathways
9.8GAD1, GAD2
4
Show member pathways
9.8GAD1, GAD2
5
Show member pathways
9.8GAD1, GAD2
6
Show member pathways
9.8GAD1, GAD2
79.8GAD1, GAD2
8
Show member pathways
9.6GLRA1, GLRB
9
Show member pathways
9.3GABARAP, INS
10
Show member pathways
9.2AMPH, TH
119.1INS, TH
129.0GAD1, GAD2, TH
13
Show member pathways
9.0GAD1, GAD2, TH
148.6GAD1, GAD2, GPHN, TH
15
Show member pathways
8.0GABARAP, GAD1, GAD2, GPHN, TH

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
1inhibitory synapseGO:006007710.4GAD2, GLRA1
2clathrin-sculpted gamma-aminobutyric acid transport vesicle membraneGO:006120210.0GAD1, GAD2
3synaptic vesicle membraneGO:00306729.7AMPH, GAD2
4postsynaptic membraneGO:00452119.4GLRA1, GLRB, GPHN
5smooth endoplasmic reticulumGO:00057909.3GABARAP, TH
6cell junctionGO:00300548.4AMPH, GAD2, GLRA1, GLRB, GPHN
7dendriteGO:00304258.0GLRA1, GLRB, GPHN, TH

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

(show all 14)
idNameGO IDScoreTop Affiliating Genes
1glutamate decarboxylation to succinateGO:000654010.5GAD1, GAD2
2gamma-aminobutyric acid receptor clusteringGO:009711210.2GLRB, GPHN
3synaptic transmission, glycinergicGO:006001210.2GLRA1, GLRB
4acrosome reactionGO:000734010.2GLRA1, GLRB
5righting reflexGO:006001310.2GLRA1, GLRB
6neuromuscular processGO:005090510.1GLRA1, GLRB
7neurotransmitter secretionGO:000726910.0GAD1, GAD2
8protein heterooligomerizationGO:005129110.0GLRA1, GLRB
9startle responseGO:00019649.6GLRA1, GLRB
10adult walking behaviorGO:00076289.6GLRA1, GLRB
11neurotransmitter biosynthetic processGO:00421369.4GAD1, GAD2, TH
12response to drugGO:00424938.7GAD1, GAD2, TH
13visual perceptionGO:00076018.7GLRA1, GLRB, TH
14chemical synaptic transmissionGO:00072688.5AMPH, GAD1, GAD2, GLRA1, GLRB

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

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1glutamate decarboxylase activityGO:000435110.6GAD1, GAD2
2glutamate bindingGO:001659510.5GAD1, GAD2
3extracellular-glycine-gated chloride channel activityGO:001693410.4GLRA1, GLRB
4extracellular-glycine-gated ion channel activityGO:001693310.4GLRA1, GLRB
5pyridoxal phosphate bindingGO:003017010.4GAD1, GAD2
6glycine bindingGO:001659410.3GLRA1, GLRB
7protein bindingGO:00055156.1AMPH, GABARAP, GAD1, GAD2, GLRA1, GLRB

Sources for Stiff-Person Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet