SMS
MCID: STF001
MIFTS: 64

Stiff-Person Syndrome (SMS)

Categories: Blood diseases, Endocrine diseases, Immune diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Stiff-Person Syndrome

MalaCards integrated aliases for Stiff-Person Syndrome:

Name: Stiff-Person Syndrome 58 12 55 45 15 17 74
Stiff-Man Syndrome 58 12 56
Stiff Man Syndrome 12 54 60
Sps 58 54 60
Stiff Person Syndrome and Related Disorders 54 60
Moersch-Woltman Syndrome 54 60
Stiff Person Syndrome 77 54
Sms 54 60
Progressive Encephalomyelitis with Rigidity and Myoclonus 60
Progressive Encephalomyelitis with Rigidity 74
Classic Stiff Person Syndrome 60
Focal Stiff-Person Syndrome 60
Focal Stiff Limb Syndrome 60
Morsch Woltman Syndrome 54
Stiff-Trunk Syndrome 58
Stiff Leg Syndrome 60
Classic Sps 60
Perm 60

Characteristics:

Orphanet epidemiological data:

60
stiff person syndrome and related disorders
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 limb syndrome
Inheritance: Not applicable;

OMIM:

58
Miscellaneous:
adult onset
acquired sporadic disorder
episodes may be precipitated by fear, unexpected noises, emotional responses, movement
good response to immunotherapy (intravenous igg or plasmapheresis)
good response to gaba-enhancing medications
see also congenital stiff person syndrome

Inheritance:
isolated cases


HPO:

33
stiff-person syndrome:
Onset and clinical course adult onset
Inheritance sporadic


Classifications:



Summaries for Stiff-Person Syndrome

OMIM : 58 The stiff-person syndrome (SPS) is most often an adult-onset sporadic acquired disorder characterized by progressive muscle stiffness with superimposed painful muscle spasms accompanied by electromyographic evidence of continuous motor activity at rest. SPS has been associated with autoimmune disorders, diabetes mellitus, thyrotoxicosis, and hypopituitarism with adrenal insufficiency (George et al., 1984). Approximately 60% of patients with SPS have antibodies to glutamic acid decarboxylase (GAD2, or GAD65; 138275), the rate-limiting enzyme in the synthesis of the inhibitory neurotransmitter gamma-aminobutyric acid (GABA), suggesting an immune-mediated pathogenesis (Folli et al., 1993). Approximately 10% of patients develop SPS as a paraneoplastic neurologic disorder associated with antibodies to amphiphysin (AMPH; 600418), an intracellular protein associated with neuronal synaptic vesicle endocytosis (Burns, 2005). See also congenital stiff-man syndrome, or hereditary hyperexplexia (149400), which is caused by mutations in subunits of the glycine receptor gene (GLRA1, 138491; GLRB, 138492). Meinck and Thompson (2002) provided a detailed review of stiff-person syndrome. They also discussed 2 possibly related conditions, progressive encephalomyelitis with rigidity (PERM), a more severe disorder with other neurologic features, and stiff-limb or stiff-leg syndrome, a focal disorder. (184850)

MalaCards based summary : Stiff-Person Syndrome, also known as stiff-man syndrome, is related to hyperekplexia and limbic encephalitis, and has symptoms including fever, opisthotonus and increased sweating. An important gene associated with Stiff-Person Syndrome is GAD2 (Glutamate Decarboxylase 2), and among its related pathways/superpathways are Neuroscience and Glucose / Energy Metabolism. The drugs Glycine and Immunoglobulins have been mentioned in the context of this disorder. Affiliated tissues include thyroid, brain and testes, and related phenotypes are hyperhidrosis and emg abnormality

Disease Ontology : 12 A movement disease that is of unknown etiology characterized by progressive rigidity.

NIH Rare Diseases : 54 Stiff person syndrome (SPS) is a rare, progressive syndrome that affects the nervous system, specifically the brain and spinal cord. Symptoms may include extreme muscle stiffness, rigidity and painful spasms in the trunk and limbs, severely impairing mobility. Spasms can generate enough force to fracture bone. People with SPS often have heightened sensitivity to noise, sudden movements, and emotional distress, which can set off muscle spasms. Persistent symptoms can lead to abnormal posturing of the spine, such as being hunched over. The syndrome affects twice as many women as men. SPS is caused by increased muscle activity due to decreased inhibition of the central nervous system. It is thought to have an autoimmune component and is often associated with diabetes, as well as other autoimmune diseases such as thyroiditis, vitiligo, and pernicious anemia. It may be diagnosed after having various tests including blood tests (including a test showing elevated glutamic acid decarboxylase (GAD) antibodies), a lumbar puncture, and electromyography. Treatment aims to control symptoms and improve mobility, and may involve benzodiazepines, muscle relaxants, and/or intravenous immunoglobulin (IVIG). While some people with SPS may maintain reasonable levels of activity with treatment, the majority become disabled over time.

NINDS : 55 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 : 77 Stiff-person syndrome (SPS), also known as stiff-man syndrome (SMS), is a rare neurologic disorder of... more...

Related Diseases for Stiff-Person Syndrome

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

(show top 50) (show all 732)
# Related Disease Score Top Affiliating Genes
1 hyperekplexia 32.2 GLRA1 GLRB GPHN
2 limbic encephalitis 30.0 AMPH GAD1 GAD2
3 autoimmune polyendocrine syndrome 29.9 GAD1 GAD2
4 spastic cerebral palsy 29.8 GAD1 GAD2
5 diabetes mellitus, insulin-dependent 29.4 GAD1 GAD2 INS
6 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 29.3 GAD1 GAD2 INS
7 sm-ahnmd 12.3
8 syndromic x-linked intellectual disability snyder type 12.1
9 mental retardation, x-linked, syndromic, snyder-robinson type 12.0
10 ischiocoxopodopatellar syndrome 11.9
11 systemic mastocytosis 11.7
12 hyperekplexia 1 11.7
13 systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease 11.5
14 potocki-lupski syndrome 11.1
15 surfactant metabolism dysfunction, pulmonary, 1 11.1
16 surfactant metabolism dysfunction, pulmonary, 2 11.1
17 steatocystoma multiplex 11.1
18 singleton-merten syndrome 11.1
19 aneruptive fever 11.0
20 ventilation pneumonitis 11.0
21 farmer's lung 11.0
22 tularemia 11.0
23 absence of septum pellucidum 11.0
24 paraneoplastic neurologic disorders 11.0
25 paraneoplastic syndromes 11.0
26 myxozoa 10.6
27 acromegaly 10.5
28 thymoma 10.4
29 aceruloplasminemia 10.3
30 retinitis pigmentosa 10.3
31 mastocytosis 10.3
32 legionnaires' disease 10.2
33 pulmonary alveolar microlithiasis 10.2
34 pneumonia 10.2
35 neutrophil actin dysfunction 10.2
36 breast cancer 10.2
37 myasthenia gravis 10.2
38 diabetes mellitus 10.2
39 encephalitis 10.2
40 myasthenia gravis congenital 10.2
41 vipoma 10.2
42 spotted fever 10.1
43 pelger-huet anomaly 10.1
44 neuroleptic malignant syndrome 10.1
45 supranuclear ocular palsy 10.1
46 spindle cell hemangioma 10.1
47 disease of mental health 10.1
48 hypoglycemia 10.1
49 multiple sclerosis 10.1
50 lymphoma 10.1

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



Diseases related to Stiff-Person Syndrome

Symptoms & Phenotypes for Stiff-Person Syndrome

Human phenotypes related to Stiff-Person Syndrome:

60 33 (show all 30)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hyperhidrosis 60 33 hallmark (90%) Very frequent (99-80%) HP:0000975
2 emg abnormality 60 33 hallmark (90%) Very frequent (99-80%) HP:0003457
3 anxiety 60 33 hallmark (90%) Very frequent (99-80%) HP:0000739
4 falls 60 33 hallmark (90%) Very frequent (99-80%) HP:0002527
5 intermittent painful muscle spasms 60 33 hallmark (90%) Very frequent (99-80%) HP:0011964
6 emotional lability 60 33 frequent (33%) Frequent (79-30%) HP:0000712
7 rigidity 60 33 frequent (33%) Frequent (79-30%) HP:0002063
8 difficulty walking 60 33 frequent (33%) Frequent (79-30%) HP:0002355
9 autoimmune antibody positivity 60 33 frequent (33%) Frequent (79-30%) HP:0030057
10 agoraphobia 60 33 frequent (33%) Frequent (79-30%) HP:0000756
11 exaggerated startle response 60 33 frequent (33%) Frequent (79-30%) HP:0002267
12 paraspinal muscle hypertrophy 60 33 frequent (33%) Frequent (79-30%) HP:0012894
13 diabetes mellitus 60 33 occasional (7.5%) Occasional (29-5%) HP:0000819
14 hypothyroidism 60 33 occasional (7.5%) Occasional (29-5%) HP:0000821
15 lumbar hyperlordosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0002938
16 depressivity 33 HP:0000716
17 hypertension 33 HP:0000822
18 hyperreflexia 33 HP:0001347
19 fever 33 HP:0001945
20 anemia 33 HP:0001903
21 vitiligo 33 HP:0001045
22 autoimmunity 33 HP:0002960
23 abnormality of the nervous system 60 Excluded (0%)
24 myoclonic spasms 33 HP:0003739
25 frequent falls 33 HP:0002359
26 tachycardia 33 HP:0001649
27 opisthotonus 33 HP:0002179
28 proximal limb muscle stiffness 33 HP:0007066
29 axial muscle stiffness 33 HP:0006921
30 asymmetric limb muscle stiffness 33 HP:0007156

Symptoms via clinical synopsis from OMIM:

58
Cardiovascular Vascular:
hypertension

Neurologic Behavioral Psychiatric Manifestations:
anxiety
agoraphobia
depression
specific phobias

Metabolic Features:
hyperthermia

Immunology:
associated with autoimmune disorders (e.g., diabetes mellitus, thyroiditis, pernicious anemia, vitiligo)
associated with autoantibodies to gad65 (anti-glutamic acid decarboxylase gad2, ) in serum and/or cerebrospinal fluid
approximately 60% of patients have anti-gad65 antibodies
associated with serum autoantibodies to glra1 (glycine receptor alpha-1 subunit , reported in 1 patient)

Neurologic Central Nervous System:
hyperreflexia
rigidity
frequent falls
opisthotonus
stiff gait
more
Cardiovascular Heart:
tachycardia

Skin Nails Hair Skin:
diaphoresis

Neoplasia:
approximately 10% of cases are paraneoplastic
paraneoplastic sps is associated with breast cancer and other malignancies
paraneoplastic sps is associated with autoantibodies to amphiphysin (amph, )

Clinical features from OMIM:

184850

UMLS symptoms related to Stiff-Person Syndrome:


fever, opisthotonus, increased sweating, muscle rigidity, hyperexplexia

MGI Mouse Phenotypes related to Stiff-Person Syndrome:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.97 AMPH CSAD GAD1 GAD2 GLRA1 GLRB
2 mortality/aging MP:0010768 9.86 AMPH CSAD GAD1 GAD2 GLRA1 GLRB
3 endocrine/exocrine gland MP:0005379 9.8 AMPH GAD1 GAD2 GLRA1 GLRB INS
4 nervous system MP:0003631 9.7 AMPH GAD1 GAD2 GLRA1 GLRB GPHN
5 normal MP:0002873 9.35 GABARAP GAD1 GAD2 GPHN INS
6 reproductive system MP:0005389 9.1 AMPH CSAD GAD2 GLRA1 GLRB INS

Drugs & Therapeutics for Stiff-Person Syndrome

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

(show all 44)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Glycine Approved, Nutraceutical, Vet_approved Phase 3 56-40-6 750
2 Immunoglobulins Phase 3,Phase 2,Phase 1
3 Rho(D) Immune Globulin Phase 3,Phase 1
4 gamma-Globulins Phase 3,Phase 1
5 Immunoglobulins, Intravenous Phase 3,Phase 1
6 Antibodies Phase 3,Phase 2,Phase 1
7 Immunologic Factors Phase 3,Phase 2,Phase 1
8 Neurotransmitter Agents Phase 3
9
rituximab Approved Phase 2,Phase 1 174722-31-7 10201696
10
Prednisolone Approved, Vet_approved Phase 1, Phase 2 50-24-8 5755
11
Mesna Approved, Investigational Phase 1, Phase 2 3375-50-6 598
12
Prednisolone phosphate Approved, Vet_approved Phase 1, Phase 2 302-25-0
13
Lenograstim Approved, Investigational Phase 1, Phase 2 135968-09-1
14
Methylprednisolone Approved, Vet_approved Phase 1, Phase 2 83-43-2 6741
15
Methylprednisolone hemisuccinate Approved Phase 1, Phase 2 2921-57-5
16
Cyclophosphamide Approved, Investigational Phase 1, Phase 2 6055-19-2, 50-18-0 2907
17
Sargramostim Approved, Investigational Phase 1, Phase 2 123774-72-1, 83869-56-1
18
Prednisolone hemisuccinate Experimental Phase 1, Phase 2 2920-86-7
19 Antirheumatic Agents Phase 2,Phase 1
20 Antibodies, Monoclonal Phase 2,Phase 1
21 Antineoplastic Agents, Immunological Phase 2,Phase 1
22 polysaccharide-K Phase 1, Phase 2
23 Prednisolone acetate Phase 1, Phase 2
24 Peripheral Nervous System Agents Phase 1, Phase 2
25 Anti-Inflammatory Agents Phase 1, Phase 2
26 Antineoplastic Agents, Alkylating Phase 1, Phase 2
27 Hormones Phase 1, Phase 2
28 Autonomic Agents Phase 1, Phase 2
29 Immunosuppressive Agents Phase 1, Phase 2
30 Adjuvants, Immunologic Phase 1, Phase 2
31 Gastrointestinal Agents Phase 1, Phase 2
32 Antilymphocyte Serum Phase 1, Phase 2
33 glucocorticoids Phase 1, Phase 2
34 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 1, Phase 2
35 Protective Agents Phase 1, Phase 2
36 Neuroprotective Agents Phase 1, Phase 2
37 Thymoglobulin Phase 1, Phase 2
38 Antiemetics Phase 1, Phase 2
39 Methylprednisolone Acetate Phase 1, Phase 2
40 Antineoplastic Agents, Hormonal Phase 1, Phase 2
41 Hormone Antagonists Phase 1, Phase 2
42 Alkylating Agents Phase 1, Phase 2
43
Glutamic Acid Approved, Nutraceutical 56-86-0 33032
44 Autoantibodies

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Randomized Placebo Controlled Trial of IVIg in Glycine Receptor Antibody Positive Stiff-person Syndrome Recruiting NCT03749096 Phase 3 Intravenous Immunoglobulins, Human;Placebos
2 Rituximab to Treat Stiff Person Syndrome Completed NCT00091897 Phase 2 Rituximab;rituximab or placebo
3 Stem Cell Transplantation for Stiff Person Syndrome (SPS) Active, not recruiting NCT02282514 Phase 1, Phase 2 Cyclophosphamide;Mesna;rATG;Methylprednisolone;G-CSF;Rituxan
4 Intravenous Immunoglobulin (IVIg) for the Treatment of Stiff-Man Syndrome (SMS) Completed NCT00001550 Phase 1 IVIg
5 Cause, Development, and Progression of Stiff-Person Syndrome Completed NCT00030940
6 Efficacy and Mechanism of Action of SCIg in Patients With Stiff Person Syndrome (SPS) Not yet recruiting NCT03829826

Search NIH Clinical Center for Stiff-Person Syndrome

Cochrane evidence based reviews: stiff-person syndrome

Genetic Tests for Stiff-Person Syndrome

Anatomical Context for Stiff-Person Syndrome

MalaCards organs/tissues related to Stiff-Person Syndrome:

42
Thyroid, Brain, Testes, Spinal Cord, Bone, Breast, Eye

Publications for Stiff-Person Syndrome

Articles related to Stiff-Person Syndrome:

(show top 50) (show all 432)
# Title Authors Year
1
Stiff Person Syndrome and Type 1 Diabetes Mellitus: a Case of the Chicken or the Egg? ( 30783882 )
2019
2
Graves' disease as a first autoimmune manifestation of a stiff person syndrome. ( 30846197 )
2019
3
Progressive Encephalomyelitis With Rigidity: Stiff Person Syndrome Variant Associated With Multiple Sclerosis. ( 30762977 )
2019
4
Quantitative clinical and autoimmune assessments in stiff person syndrome: evidence for a progressive disorder. ( 30606131 )
2019
5
Teaching NeuroImages: Severe spasms resembling status dystonicus as an unusual presentation of stiff-person syndrome. ( 30745453 )
2019
6
Common variable immunodeficiency associated with stiff-person syndrome. ( 29407421 )
2018
7
Teaching Video NeuroImages: Electromyographic variation in stiff-person syndrome. ( 29335314 )
2018
8
Case Series: Intrathecal Baclofen Therapy in Stiff-Person Syndrome. ( 29532593 )
2018
9
Treatment and Resolution of Filamentary Keratitis in a Patient with Stiff Person Syndrome. ( 29040122 )
2018
10
Stiff Person Syndrome With Evidence of Nonspecific Focal Myositis Secondary to Sustained Muscle Contraction: A Case Report. ( 29705167 )
2018
11
Anaesthetic management of a patient with a unique combination of anti-N-methyl-D-aspartate receptor encephalitis and stiff-person syndrome. ( 29735495 )
2018
12
Paraneoplastic Stiff Person Syndrome Secondary to Pancreatic Adenocarcinoma. ( 29110193 )
2018
13
Reduced display of conformational epitopes in the N-terminal truncated GAD65 isoform: relevance for people with stiff person syndrome or DQ8/8-positive Type 1 diabetes mellitus. ( 30264481 )
2018
14
Stiff-person Syndrome with Waldenström Macroglobulinemia. ( 29984750 )
2018
15
Paraneoplastic stiff person syndrome with small cell carcinoma of the bladder and anti-Ri antibodies. ( 30165320 )
2018
16
Longitudinal gait assessment in a stiff person syndrome. ( 30045062 )
2018
17
Inpatient care for stiff person syndrome in the United States: a nationwide readmission study. ( 30123517 )
2018
18
Stiff person syndrome with elevated titers of antibodies against cardiolipin and β2 glycoprotein 1: a case report and literature review. ( 30179217 )
2018
19
Stiff person syndrome with Anti-GAD65 antibodies within the national veterans affairs health administration. ( 30192027 )
2018
20
Successful Anesthetic Management of Patient with Stiff Person Syndrome. ( 30501837 )
2018
21
Case report of a woman with anti amphiphysin positive stiff person syndrome. ( 29870637 )
2017
22
Central Sleep Apnea and Stiff Person Syndrome: A Case Report. ( 28358591 )
2017
23
Evaluation of Treatment Outcomes in Patients with Stiff Person Syndrome with Rituximab vs. Standard of Care. ( 28775927 )
2017
24
Stiff-person syndrome after thymectomy in myasthenia gravis mimicking a post-thymectomy myasthenic crisis. ( 28879920 )
2017
25
Why It Is Not Always Anxiety: A Tough Diagnosis of Stiff Person Syndrome. ( 28890837 )
2017
26
Difficult to Treat Focal, Stiff Person Syndrome of the Left Upper Extremity. ( 29209545 )
2017
27
A case of stiff-person syndrome due to secondary adrenal insufficiency. ( 28552871 )
2017
28
Stiff person syndrome masquerading as multiple sclerosis. ( 28017232 )
2017
29
Stiff Person Syndrome Presenting After the Initiation of Buspirone. ( 28602446 )
2017
30
A double-blind, placebo-controlled study of rituximab in patients with stiff person syndrome. ( 28749549 )
2017
31
Ophthalmoplegia heralding the onset of anti-amphiphysin related paraneoplastic stiff person syndrome. ( 26946498 )
2016
32
Stiff Person Syndrome Masquerading as Acute Coronary Syndrome. ( 27692358 )
2016
33
Serotonin-norepinephrine reuptake inhibitors may exacerbate stiff-person syndrome. ( 27606356 )
2016
34
Clinical Spectrum of Stiff Person Syndrome: A Review of Recent Reports. ( 26989571 )
2016
35
Stiff person syndrome in South Asia. ( 27756410 )
2016
36
Stiff person syndrome and other immune-mediated movement disorders - new insights. ( 27262149 )
2016
37
Stiff-Person Syndrome and Graves' Disease: A Pediatric Case Report. ( 28503622 )
2016
38
Anesthetic Considerations of Stiff-Person Syndrome: A Case Report. ( 27501653 )
2016
39
Long-term efficacy of pregabalin in stiff person syndrome. ( 27527522 )
2016
40
Anesthesia in a patient with Stiff Person Syndrome. ( 27591471 )
2016
41
Acute Respiratory Failure in a Patient with Stiff-Person Syndrome. ( 27430873 )
2016
42
Poster 360 Acute Rehabilitation of a Patient with Stiff Person Syndrome (SPS) and GAD-Antibody Cerebellar Ataxia: A Case Report. ( 27673113 )
2016
43
Presynaptic neuromuscular transmission defect in the stiff person syndrome. ( 27905901 )
2016
44
A case report of patient with cerebellar variant of stiff person syndrome. ( 26851693 )
2016
45
Rhabdomyolysis and Autoimmune Variant Stiff-Person Syndrome. ( 28028432 )
2016
46
Multiple anesthetics for a patient with stiff-person syndrome. ( 27185709 )
2016
47
Poster 258 A Novel Approach to the Treatment of Stiff-Person-Syndrome with Botulinum Toxin: A Case Report. ( 27673015 )
2016
48
A unique combination of autoimmune limbic encephalitis, type 1 diabetes, and Stiff person syndrome associated with GAD-65 antibody. ( 27011652 )
2016
49
Utility of ultrasonography in evaluating muscle contractions in stiff-person syndrome. ( 27423620 )
2016
50
Poster 237 Bilateral Hip Fracture During Hospitalization for Spasm Exacerbation in an Adult with Stiff Person Syndrome: A Case Report. ( 27672995 )
2016

Variations for Stiff-Person Syndrome

Expression for Stiff-Person Syndrome

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

Pathways for Stiff-Person Syndrome

GO Terms for Stiff-Person Syndrome

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

# Name GO ID Score Top Affiliating Genes
1 plasma membrane GO:0005886 9.98 AMPH GABARAP GAD1 GAD2 GLRA1 GLRB
2 cell junction GO:0030054 9.72 AMPH GAD2 GLRA1 GLRB GPHN
3 postsynaptic membrane GO:0045211 9.54 GLRA1 GLRB GPHN
4 synaptic vesicle membrane GO:0030672 9.46 AMPH GAD2
5 chloride channel complex GO:0034707 9.4 GLRA1 GLRB
6 clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane GO:0061202 9.26 GAD1 GAD2
7 glycinergic synapse GO:0098690 9.16 GLRA1 GLRB
8 inhibitory synapse GO:0060077 9.13 GAD1 GAD2 GLRA1
9 synapse GO:0045202 9.1 AMPH GAD1 GAD2 GLRA1 GLRB GPHN

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

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 protein heterooligomerization GO:0051291 9.55 GLRA1 GLRB
2 excitatory postsynaptic potential GO:0060079 9.54 GLRA1 GLRB
3 nervous system process GO:0050877 9.52 GLRA1 GLRB
4 response to amino acid GO:0043200 9.51 GLRA1 GLRB
5 adult walking behavior GO:0007628 9.49 GLRA1 GLRB
6 neuromuscular process GO:0050905 9.48 GLRA1 GLRB
7 acrosome reaction GO:0007340 9.46 GLRA1 GLRB
8 startle response GO:0001964 9.43 GLRA1 GLRB
9 neurotransmitter biosynthetic process GO:0042136 9.4 GAD1 GAD2
10 righting reflex GO:0060013 9.37 GLRA1 GLRB
11 synaptic transmission, glycinergic GO:0060012 9.32 GLRA1 GLRB
12 gamma-aminobutyric acid receptor clustering GO:0097112 9.26 GLRB GPHN
13 glutamate decarboxylation to succinate GO:0006540 9.16 GAD1 GAD2
14 carboxylic acid metabolic process GO:0019752 9.13 CSAD GAD1 GAD2
15 chemical synaptic transmission GO:0007268 9.1 AMPH GABARAP GAD1 GAD2 GLRA1 GLRB

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 lyase activity GO:0016829 9.61 CSAD GAD1 GAD2
2 chloride channel activity GO:0005254 9.49 GLRA1 GLRB
3 extracellular ligand-gated ion channel activity GO:0005230 9.48 GLRA1 GLRB
4 transmitter-gated ion channel activity involved in regulation of postsynaptic membrane potential GO:1904315 9.46 GLRA1 GLRB
5 pyridoxal phosphate binding GO:0030170 9.43 CSAD GAD1 GAD2
6 glycine binding GO:0016594 9.4 GLRA1 GLRB
7 glutamate binding GO:0016595 9.37 GAD1 GAD2
8 extracellularly glycine-gated chloride channel activity GO:0016934 9.32 GLRA1 GLRB
9 glutamate decarboxylase activity GO:0004351 9.16 GAD1 GAD2
10 extracellularly glycine-gated ion channel activity GO:0016933 8.96 GLRA1 GLRB
11 carboxy-lyase activity GO:0016831 8.8 CSAD GAD1 GAD2

Sources for Stiff-Person Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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