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, 30ICD10, 31ICD10 via Orphanet, 32ICD9CM, 39MeSH, 45NCIt, 48NIH Rare Diseases, 49NINDS, 50Novoseek, 52OMIM, 54Orphanet, 62SNOMED-CT, 64The Human Phenotype Ontology, 68UMLS, 69UMLS via Orphanet
See all MalaCards sources

Aliases & Descriptions for Stiff-Person Syndrome:

Name: Stiff-Person Syndrome 52 11 49 39 13 68
Stiff Man Syndrome 11 48 54
Tinea Profunda 11 13 68
Stiff Person Syndrome and Related Disorders 48 54
Deep Seated Dermatophytosis 11 68
Moersch-Woltman Syndrome 48 54
Stiff-Man Syndrome 11 50
Sms 48 54
Sps 48 54
Progressive Encephalomyelitis with Rigidity and Myoclonus 54
Progressive Encephalomyelitis with Rigidity 68
 
Classic Stiff Person Syndrome 54
Focal Stiff-Person Syndrome 54
Focal Stiff Limb Syndrome 54
Granuloma Trichophyticum 11
Morsch Woltman Syndrome 48
Stiff Person Syndrome 48
Majocchi's Granuloma 11
Stiff Leg Syndrome 54
Classic Sps 54
Perm 54

Characteristics:

Orphanet epidemiological data:

54
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:

64
stiff-person syndrome:
Onset and clinical course: adult onset
Inheritance: sporadic

Classifications:



External Ids:

OMIM52 184850
Disease Ontology11 DOID:13366, DOID:13368
ICD1030 G25.82
ICD9CM32 333.91
MeSH39 D016750
NCIt45 C85170
ICD10 via Orphanet31 G25.8, G04.8
UMLS via Orphanet69 C0085292

Summaries for Stiff-Person Syndrome

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OMIM:52 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.

NIH Rare Diseases:48 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:49 Stiff-person syndrome (SPS) is a rare neurological disorder with features of an autoimmune disease.

Wikipedia:71 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 & Phenotypes 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:

 54 64 (show all 29)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 anxiety64 54 Very frequent (99-80%) HP:0000739
2 hyperhidrosis64 54 Very frequent (99-80%) HP:0000975
3 falls54 Very frequent (99-80%)
4 emg abnormality54 Very frequent (99-80%)
5 intermittent painful muscle spasms54 Very frequent (99-80%)
6 emotional lability54 Frequent (79-30%)
7 agoraphobia64 54 Frequent (79-30%) HP:0000756
8 rigidity64 54 Frequent (79-30%) HP:0002063
9 exaggerated startle response64 54 Frequent (79-30%) HP:0002267
10 difficulty walking54 Frequent (79-30%)
11 paraspinal muscle hypertrophy54 Frequent (79-30%)
12 diabetes mellitus54 Occasional (29-5%)
13 hypothyroidism54 Occasional (29-5%)
14 lumbar hyperlordosis64 54 Occasional (29-5%) HP:0002938
15 abnormality of the nervous system54 Excluded (0%)
16 depression64 HP:0000716
17 hypertension64 HP:0000822
18 vitiligo64 HP:0001045
19 hyperreflexia64 HP:0001347
20 tachycardia64 HP:0001649
21 anemia64 HP:0001903
22 fever64 HP:0001945
23 opisthotonus64 HP:0002179
24 frequent falls64 HP:0002359
25 autoimmunity64 HP:0002960
26 myoclonic spasms64 HP:0003739
27 axial muscle stiffness64 HP:0006921
28 proximal limb muscle stiffness64 HP:0007066
29 asymmetric limb muscle stiffness64 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

MGI Mouse Phenotypes related to Stiff-Person Syndrome according to GeneCards Suite gene sharing:

41
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

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:

36
Thyroid, Skin, Eye, T cells, Cortex, Colon, B cells

Publications for Stiff-Person Syndrome

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Articles related to Stiff-Person Syndrome:

(show top 50)    (show all 259)
idTitleAuthorsYear
1
Stiff person syndrome masquerading as multiple sclerosis. (28017232)
2017
2
Erratum: Serotonin-norepinephrine reuptake inhibitors may exacerbate stiff-person syndrome. (27761484)
2016
3
Stiff person syndrome in South Asia. (27756410)
2016
4
Anesthetic Considerations of Stiff-Person Syndrome: A Case Report. (27501653)
2016
5
Rhabdomyolysis and Autoimmune Variant Stiff-Person Syndrome. (28028432)
2016
6
Presynaptic neuromuscular transmission defect in the stiff person syndrome. (27905901)
2016
7
Poster 237 Bilateral Hip Fracture During Hospitalization for Spasm Exacerbation in an Adult with Stiff Person Syndrome: A Case Report. (27672995)
2016
8
Gastrointestinal and Urologic Sphincter Dysfunction in Stiff Person Syndrome. (27861223)
2016
9
Stiff person syndrome and other immune-mediated movement disorders - new insights. (27262149)
2016
10
Amphiphysin-positive paraneoplastic myelitis and stiff-person syndrome. (27734022)
2016
11
Poster 360 Acute Rehabilitation of a Patient with Stiff Person Syndrome (SPS) and GAD-Antibody Cerebellar Ataxia: A Case Report. (27673113)
2016
12
A unique combination of autoimmune limbic encephalitis, type 1 diabetes, and Stiff person syndrome associated with GAD-65 antibody. (27011652)
2016
13
Poster 258 A Novel Approach to the Treatment of Stiff-Person-Syndrome with Botulinum Toxin: A Case Report. (27673015)
2016
14
A case report of patient with cerebellar variant of stiff person syndrome. (26851693)
2016
15
Long-term efficacy of pregabalin in stiff person syndrome. (27527522)
2016
16
Anesthesia in a patient with Stiff Person Syndrome. (27591471)
2016
17
Anesthetic management of a parturient with Stiff person syndrome for urgent cesarean delivery. (27378710)
2016
18
Utility of ultrasonography in evaluating muscle contractions in stiff-person syndrome. (27423620)
2016
19
Multiple anesthetics for a patient with stiff-person syndrome. (27185709)
2016
20
Serotonin-norepinephrine reuptake inhibitors may exacerbate stiff-person syndrome. (27606356)
2016
21
Clinical Spectrum of Stiff Person Syndrome: A Review of Recent Reports. (26989571)
2016
22
Paraneoplastic stiff person syndrome: Inpatient rehabilitation outcomes of a rare disease from two cancer rehabilitation programmes. (27157044)
2016
23
Stiff Person Syndrome Masquerading as Acute Coronary Syndrome. (27692358)
2016
24
Lockjaw in stiff-person syndrome with autoantibodies against glycine receptors. (26767190)
2016
25
Acute Respiratory Failure in a Patient with Stiff-Person Syndrome. (27430873)
2016
26
Ophthalmoplegia heralding the onset of anti-amphiphysin related paraneoplastic stiff person syndrome. (26946498)
2016
27
Pediatric stiff-person syndrome with renal failure. (26933366)
2016
28
Role of osteopathic manipulative treatment in the management of stiff person syndrome. (26024334)
2015
29
Therapeutic plasma exchange in two patients with stiff-person syndrome. (26407506)
2015
30
Elevated Serum GAD65 and GAD65-GADA Immune Complexes in Stiff Person Syndrome. (26080009)
2015
31
Botulinum toxin a injection to facial and cervical paraspinal muscles in a patient with stiff person syndrome: a case report. (25459656)
2015
32
Familial case reports of stiff-person syndrome. (25912339)
2015
33
Stiff Person Syndrome. (27604442)
2015
34
A Report of Stiff Person Syndrome in Tanzania with First Epidemiological Figures for Sub-Saharan Africa. (26316197)
2015
35
Focal gradual-onset variant of stiff-person syndrome. (25636820)
2015
36
Stiff person syndrome: a tough and rigid case. (26040059)
2015
37
Stiff-person syndrome with central sleep apnea after thymoma excision: report of the first known case. (26238984)
2015
38
What's stiff-person syndrome? (26287715)
2015
39
A Case of Stiff Person Syndrome: Immunomodulatory Effect of Benzodiazepines: Successful Rituximab and Tizanidine Therapy. (26061327)
2015
40
A Rare Case of Childhood Stiff Person Syndrome Associated With Pleuropulmonary Blastoma. (26344328)
2015
41
Recent Advances and Review on Treatment of Stiff Person Syndrome in Adults and Pediatric Patients. (26848416)
2015
42
Pearls & Oy-sters: Tonic eye deviation in stiff-person syndrome. (25917489)
2015
43
Are patients with truncal type of Stiff Person Syndrome hidden in a heterogenous group of non-radiographic axial spondyloarthritis? (26005769)
2015
44
Stiff Person Syndrome: A Rare Neurological Disorder, Heterogeneous in Clinical Presentation and Not Easy to Treat. (26106494)
2015
45
Latent autoimmune diabetes in Stiff-Person Syndrome. (25249677)
2014
46
LADA type diabetes, celiac diasease, cerebellar ataxia and stiff person syndrome. A rare association of autoimmune disorders. (25087381)
2014
47
Reducing excess stiffness in Stiff Person Syndrome using CBT: A case study. (25238861)
2014
48
Stiff person syndrome: a case report. (25095302)
2014
49
Anti glutamate-decarboxylase antibodies: a liaison between localisation related epilepsy, stiff-person syndrome and type-1 diabetes mellitus. (25509368)
2014
50
Stiff-person syndrome: case series. (24926406)
2014

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
1clathrin-sculpted gamma-aminobutyric acid transport vesicle membraneGO:006120210.5GAD1, GAD2
2inhibitory synapseGO:006007710.4GAD2, GLRA1
3synaptic vesicle membraneGO:00306729.7AMPH, GAD2
4postsynaptic membraneGO:00452119.7GLRA1, GLRB, GPHN
5smooth endoplasmic reticulumGO:00057909.5GABARAP, TH
6cell junctionGO:00300549.1AMPH, GAD2, GLRA1, GLRB, GPHN
7dendriteGO:00304259.0GLRA1, 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
2neurotransmitter secretionGO:000726910.5GAD1, GAD2
3acrosome reactionGO:000734010.3GLRA1, GLRB
4adult walking behaviorGO:000762810.3GLRA1, GLRB
5neuromuscular processGO:005090510.3GLRA1, GLRB
6protein heterooligomerizationGO:005129110.2GLRA1, GLRB
7gamma-aminobutyric acid receptor clusteringGO:009711210.2GLRB, GPHN
8righting reflexGO:006001310.2GLRA1, GLRB
9startle responseGO:000196410.2GLRA1, GLRB
10synaptic transmission, glycinergicGO:006001210.2GLRA1, GLRB
11neurotransmitter biosynthetic processGO:00421369.7GAD1, GAD2, TH
12response to drugGO:00424939.6GAD1, GAD2, TH
13chemical synaptic transmissionGO:00072689.1AMPH, GAD1, GAD2, GLRA1, GLRB
14visual perceptionGO:00076018.8GLRA1, GLRB, TH

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

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1glutamate bindingGO:001659510.6GAD1, GAD2
2glutamate decarboxylase activityGO:000435110.6GAD1, GAD2
3extracellular-glycine-gated chloride channel activityGO:001693410.4GLRA1, GLRB
4extracellular-glycine-gated ion channel activityGO:001693310.4GLRA1, GLRB
5glycine bindingGO:001659410.4GLRA1, GLRB
6pyridoxal phosphate bindingGO:00301709.8GAD1, GAD2
7protein bindingGO:00055156.5AMPH, GABARAP, GAD1, GAD2, GLRA1, GLRB

Sources for Stiff-Person Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet