MCID: STF001
MIFTS: 56

Stiff-Person Syndrome malady

Categories: Rare diseases, Neuronal diseases, Endocrine diseases, Blood diseases, Skin diseases, Infectious diseases

Aliases & Classifications for Stiff-Person Syndrome

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Sources:
11Disease Ontology, 13DISEASES, 29ICD10, 30ICD10 via Orphanet, 31ICD9CM, 38MeSH, 44NCIt, 47NIH Rare Diseases, 48NINDS, 49Novoseek, 51OMIM, 53Orphanet, 61SNOMED-CT, 63The Human Phenotype Ontology, 67UMLS, 68UMLS via Orphanet
See all MalaCards sources

Aliases & Descriptions for Stiff-Person Syndrome:

Name: Stiff-Person Syndrome 51 11 48 38 13 67
Stiff Man Syndrome 11 47 53
Tinea Profunda 11 13 67
Stiff Person Syndrome and Related Disorders 47 53
Deep Seated Dermatophytosis 11 67
Moersch-Woltman Syndrome 47 53
Stiff-Man Syndrome 11 49
Sms 47 53
Sps 47 53
Progressive Encephalomyelitis with Rigidity and Myoclonus 53
Progressive Encephalomyelitis with Rigidity 67
 
Classic Stiff Person Syndrome 53
Focal Stiff-Person Syndrome 53
Focal Stiff Limb Syndrome 53
Granuloma Trichophyticum 11
Morsch Woltman Syndrome 47
Stiff Person Syndrome 47
Majocchi's Granuloma 11
Stiff Leg Syndrome 53
Classic Sps 53
Perm 53

Characteristics:

Orphanet epidemiological data:

53
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:

63
stiff-person syndrome:
Onset and clinical course: adult onset
Inheritance: sporadic

Classifications:



External Ids:

OMIM51 184850
Disease Ontology11 DOID:13366, DOID:13368
ICD1029 G25.82
ICD9CM31 333.91
MeSH38 D016750
NCIt44 C85170
ICD10 via Orphanet30 G25.8, G04.8
UMLS via Orphanet68 C0085292

Summaries for Stiff-Person Syndrome

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OMIM:51 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 progressive encephalomyelitis with rigidity and myoclonus and sm-ahnmd, and has symptoms including Array, Array and Array. An important gene associated with Stiff-Person Syndrome is GAD2 (Glutamate Decarboxylase 2), and among its related pathways are Beta-alanine metabolism (TR) and Alanine, aspartate and glutamate metabolism. Affiliated tissues include thyroid, skin and eye, and related mouse phenotypes are no phenotypic analysis and respiratory system.

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

NINDS:48 Stiff-person syndrome (SPS) is a rare neurological disorder with features of an autoimmune disease.

NIH Rare Diseases:47 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:70 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
1progressive encephalomyelitis with rigidity and myoclonus12.5
2sm-ahnmd12.0
3mental retardation, x-linked, snyder-robinson type11.6
4hyperekplexia, hereditary 1, autosomal dominant or recessive11.4
5smith-magenis syndrome11.4
6hyperekplexia 111.1
7osteoporosis11.0
8hyperlipidemia type 311.0
9corneal dystrophy, congenital stromal10.9
10extratemporal epilepsy10.9
11hand dermatosis10.9
12potocki-lupski syndrome10.8
13paraneoplastic syndromes10.8
14steatocystoma multiplex10.8
15singleton merten syndrome10.8
16surfactant metabolism dysfunction, pulmonary, 110.8
17surfactant metabolism dysfunction, pulmonary, 210.8
18small patella syndrome10.8
19aneruptive fever10.7
20ventilation pneumonitis10.7
21farmer's lung10.7
22tularemia10.7
23absence of septum pellucidum10.7
24myxozoa10.4
25cryptogenic organizing pneumonia10.3GLRA1, GLRB
26thymoma10.2
27ataxia10.2
28dyskinetic cerebral palsy10.1GAD1, GAD2
29cerebellar ataxia10.1
30systemic mastocytosis10.1
31mastocytosis10.1
32deafness, autosomal recessive 10110.1GLRA1, GPHN
33acromegaly10.1
34adult brain stem glioma10.1AMPH, GAD2
35complement component deficiency10.0GLRA1, GPHN
36breast cancer10.0
37lymphoma10.0
38thyroiditis10.0
39neuronitis10.0
40pneumonia10.0
41celiac disease9.9
42myasthenia gravis9.9
43respiratory failure9.9
44dermatitis9.9
45cerebellar disease9.9
46adenocarcinoma9.9
47cerebritis9.9
48dermatitis herpetiformis9.9
49encephalitis9.9
50limbic encephalitis9.9

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

Human phenotypes related to Stiff-Person Syndrome:

 53 63 (show all 29)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 anxiety63 53 Very frequent (99-80%) HP:0000739
2 hyperhidrosis63 53 Very frequent (99-80%) HP:0000975
3 falls53 Very frequent (99-80%)
4 emg abnormality53 Very frequent (99-80%)
5 intermittent painful muscle spasms53 Very frequent (99-80%)
6 emotional lability53 Frequent (79-30%)
7 agoraphobia63 53 Frequent (79-30%) HP:0000756
8 rigidity63 53 Frequent (79-30%) HP:0002063
9 exaggerated startle response63 53 Frequent (79-30%) HP:0002267
10 difficulty walking53 Frequent (79-30%)
11 paraspinal muscle hypertrophy53 Frequent (79-30%)
12 diabetes mellitus53 Occasional (29-5%)
13 hypothyroidism53 Occasional (29-5%)
14 lumbar hyperlordosis63 53 Occasional (29-5%) HP:0002938
15 abnormality of the nervous system53 Excluded (0%)
16 depression63 HP:0000716
17 hypertension63 HP:0000822
18 vitiligo63 HP:0001045
19 hyperreflexia63 HP:0001347
20 tachycardia63 HP:0001649
21 anemia63 HP:0001903
22 fever63 HP:0001945
23 opisthotonus63 HP:0002179
24 frequent falls63 HP:0002359
25 autoimmunity63 HP:0002960
26 myoclonic spasms63 HP:0003739
27 axial muscle stiffness63 HP:0006921
28 proximal limb muscle stiffness63 HP:0007066
29 asymmetric limb muscle stiffness63 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):

(show all 12)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
rituximabapprovedPhase 21654174722-31-710201696
Synonyms:
AntiCD20
IDEC-102
IDEC-C2B8
 
Ig gamma-1 chain C region
MabThera
Mabthera
Rituxan
rituximab
2AntibodiesPhase 2, Phase 16045
3ImmunoglobulinsPhase 2, Phase 16045
4Antirheumatic AgentsPhase 210627
5Antibodies, MonoclonalPhase 23795
6Rho(D) Immune GlobulinPhase 1317
7gamma-GlobulinsPhase 1317
8Immunoglobulins, IntravenousPhase 1324
9
Glycineapproved, nutraceutical, vet_approved22656-40-6750
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
10Autoantibodies126
11Neurotransmitter Agents17734
12Glutamic AcidNutraceutical214

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:

35
Thyroid, Skin, Eye, T cells, Cortex, Colon, B cells

Animal Models for Stiff-Person Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Stiff-Person Syndrome:

40
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00030128.9GAD1, GAD2, GLRA1, INS, TH
2MP:00053888.2GAD1, GAD2, GLRA1, GPHN, TH
3MP:00028738.1GABARAP, GAD1, GAD2, GPHN, INS, TH
4MP:00053797.9AMPH, GAD1, GAD2, GLRA1, GLRB, INS
5MP:00053867.5AMPH, GAD1, GAD2, GLRA1, GLRB, GPHN
6MP:00107687.5AMPH, GAD1, GAD2, GLRA1, GLRB, GPHN
7MP:00036317.5AMPH, 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 259)
idTitleAuthorsYear
1
Erratum: Serotonin-norepinephrine reuptake inhibitors may exacerbate stiff-person syndrome. (27761484)
2016
2
Stiff person syndrome in South Asia. (27756410)
2016
3
Anesthetic Considerations of Stiff-Person Syndrome: A Case Report. (27501653)
2016
4
Rhabdomyolysis and Autoimmune Variant Stiff-Person Syndrome. (28028432)
2016
5
Presynaptic neuromuscular transmission defect in the stiff person syndrome. (27905901)
2016
6
Poster 237 Bilateral Hip Fracture During Hospitalization for Spasm Exacerbation in an Adult with Stiff Person Syndrome: A Case Report. (27672995)
2016
7
Gastrointestinal and Urologic Sphincter Dysfunction in Stiff Person Syndrome. (27861223)
2016
8
Role of osteopathic manipulative treatment in the management of stiff person syndrome. (26024334)
2015
9
Therapeutic plasma exchange in two patients with stiff-person syndrome. (26407506)
2015
10
Latent autoimmune diabetes in Stiff-Person Syndrome. (25249677)
2014
11
LADA type diabetes, celiac diasease, cerebellar ataxia and stiff person syndrome. A rare association of autoimmune disorders. (25087381)
2014
12
Reducing excess stiffness in Stiff Person Syndrome using CBT: A case study. (25238861)
2014
13
Stiff person syndrome: a case report. (25095302)
2014
14
Evidence of T-cell mediated neuronal injury in stiff-person syndrome with anti-amphiphysin antibodies. (24405658)
2013
15
Stiff person syndrome. (23186907)
2013
16
Stiff person syndrome improvement with chemotherapy in a patient with cutaneous T cell lymphoma. (23605684)
2013
17
Anti-GAD positive stiff-person syndrome and cerebellar ataxia: two treatable conditions that clinicians should be aware of. (22990718)
2012
18
Pregnancy and stiff person syndrome. (22340934)
2012
19
Atypical clinically diagnosed stiff-person syndrome response to dantrolene--a refractory case. (22334188)
2012
20
Stiff person syndrome and rituximab. (22987710)
2012
21
Physical therapist management of stiff person syndrome in a 24-year-old woman. (21737522)
2011
22
Stiff-person syndrome presenting as eating disorder: a case report. (20186723)
2011
23
Stiff-person syndrome following tick-borne meningoencephalitis. (22283113)
2011
24
Successful 'passive transfer' of paraneoplastic stiff person syndrome with antibodies to an intracellular antigen. (21030432)
2010
25
Long-lived plasma cells and memory B cells produce pathogenic anti-GAD65 autoantibodies in Stiff Person Syndrome. (20520773)
2010
26
A critical update on the immunopathogenesis of Stiff Person Syndrome. (20636380)
2010
27
Effects of immunotherapy on motor cortex excitability in Stiff Person Syndrome. (19820984)
2010
28
Stiff-person syndrome: persistent elevation of glutamic acid decarboxylase antibodies despite successful treatment with rituximab. (20577094)
2010
29
Stiff-person syndrome: commonly mistaken for hysterical paralysis. (19473753)
2009
30
Stiff-person syndrome with amphiphysin antibodies: distinctive features of a rare disease. (18971449)
2008
31
Stiff eyes in stiff-person syndrome. (18663186)
2008
32
Levetiracetam in stiff-person syndrome. (18769864)
2008
33
GAD antibody positive paraneoplastic stiff person syndrome in a patient with renal cell carcinoma. (17486640)
2007
34
Stiff person syndrome with cerebellar disease and high-titer anti-GAD antibodies. (17404205)
2007
35
Scleritis in a person with stiff-person syndrome. (17365806)
2007
36
A patient with post-traumatic stress disorder developing stiff person syndrome: is there a correlation? (17558259)
2007
37
Physical therapy during in-patient rehabilitation for a patient with Stiff-Person Syndrome. (16630369)
2006
38
Eye movement abnormalities in stiff person syndrome. (16275836)
2005
39
A neuropsychological assessment of phobias in patients with stiff person syndrome. (15955955)
2005
40
A step forward for stiff-person syndrome. (15836869)
2005
41
Brain gamma-aminobutyric acid changes in stiff-person syndrome. (15956168)
2005
42
Stiff-person syndrome. (15140273)
2004
43
Anti-glutamic acid decarboxylase antibodies in the serum and cerebrospinal fluid of patients with stiff-person syndrome: correlation with clinical severity. (15210528)
2004
44
Neuropathology and binding studies in anti-amphiphysin-associated stiff-person syndrome. (12874398)
2003
45
Stiff person syndrome and anesthesia: case report. (12873941)
2003
46
Stiff person syndrome and myasthenia gravis. (11960163)
2002
47
The stiff-person syndrome. Case report. (12538969)
2002
48
Improvement of stiff-person syndrome with tiagabine. (11468338)
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 14)
idSuper pathwaysScoreTop Affiliating Genes
1
Show member pathways
9.8GAD1, 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
69.8GAD1, GAD2
79.8GAD1, GAD2
8
Show member pathways
9.6GLRA1, GLRB
9
Show member pathways
9.2AMPH, TH
109.1INS, TH
119.0GAD1, GAD2, TH
12
Show member pathways
9.0GAD1, GAD2, TH
138.6GAD1, GAD2, GPHN, TH
14
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:006120210.2GAD1, GAD2
3synaptic vesicle membraneGO:00306729.7AMPH, GAD2
4smooth endoplasmic reticulumGO:00057909.4GABARAP, TH
5postsynaptic membraneGO:00452119.2GLRA1, GLRB, GPHN
6cell junctionGO:00300548.3AMPH, 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
6neurotransmitter secretionGO:000726910.1GAD1, GAD2
7neuromuscular processGO:005090510.1GLRA1, GLRB
8protein heterooligomerizationGO:005129110.0GLRA1, GLRB
9startle responseGO:00019649.5GLRA1, GLRB
10neurotransmitter biosynthetic processGO:00421369.4GAD1, GAD2, TH
11adult walking behaviorGO:00076289.3GLRA1, GLRB
12visual perceptionGO:00076019.0GLRA1, GLRB, TH
13response to drugGO:00424939.0GAD1, GAD2, TH
14chemical synaptic transmissionGO:00072688.7AMPH, 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
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet