SMS
MCID: STF001
MIFTS: 65

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 57 12 54 44 15 73
Stiff-Man Syndrome 57 12 55
Stiff Man Syndrome 12 53 59
Sps 57 53 59
Stiff Person Syndrome and Related Disorders 53 59
Moersch-Woltman Syndrome 53 59
Stiff Person Syndrome 76 53
Sms 53 59
Progressive Encephalomyelitis with Rigidity and Myoclonus 59
Progressive Encephalomyelitis with Rigidity 73
Classic Stiff Person Syndrome 59
Focal Stiff-Person Syndrome 59
Focal Stiff Limb Syndrome 59
Morsch Woltman Syndrome 53
Stiff-Trunk Syndrome 57
Stiff Leg Syndrome 59
Classic Sps 59
Perm 59

Characteristics:

Orphanet epidemiological data:

59
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:

57
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:

32
stiff-person syndrome:
Onset and clinical course adult onset
Inheritance sporadic


Classifications:



Summaries for Stiff-Person Syndrome

OMIM : 57 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 muscle rigidity. An important gene associated with Stiff-Person Syndrome is GAD2 (Glutamate Decarboxylase 2), and among its related pathways/superpathways are Glucose / Energy Metabolism and Neuroscience. The drugs rituximab and Methylprednisolone have been mentioned in the context of this disorder. Affiliated tissues include thyroid, spinal cord and brain, and related phenotypes are emotional lability and diabetes mellitus

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

NIH Rare Diseases : 53 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 : 54 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 : 76 Stiff-person Disease (SPD), 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 668)
# Related Disease Score Top Affiliating Genes
1 hyperekplexia 32.4 GPHN GLRA1
2 limbic encephalitis 30.1 GAD2 GAD1 AMPH
3 spastic cerebral palsy 29.9 GAD2 GAD1
4 autoimmune polyendocrine syndrome 29.9 GAD2 GAD1
5 diabetes mellitus, insulin-dependent 29.5 INS GAD2 GAD1
6 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 29.5 INS GAD2 GAD1
7 autoimmune disease 29.5 INS GAD2 GAD1
8 sm-ahnmd 12.3
9 syndromic x-linked intellectual disability snyder type 12.1
10 mental retardation, x-linked, syndromic, snyder-robinson type 11.9
11 ischiocoxopodopatellar syndrome 11.9
12 systemic mastocytosis 11.6
13 hyperekplexia 1 11.6
14 systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease 11.5
15 potocki-lupski syndrome 11.1
16 surfactant metabolism dysfunction, pulmonary, 1 11.1
17 surfactant metabolism dysfunction, pulmonary, 2 11.1
18 steatocystoma multiplex 11.1
19 singleton-merten syndrome 11.1
20 paraneoplastic neurologic disorders 11.0
21 paraneoplastic syndromes 11.0
22 aneruptive fever 11.0
23 ventilation pneumonitis 11.0
24 spermatocele 11.0
25 farmer's lung 11.0
26 tularemia 11.0
27 absence of septum pellucidum 11.0
28 myxozoa 10.6
29 acromegaly 10.5
30 thymoma 10.4
31 aceruloplasminemia 10.3
32 mastocytosis 10.3
33 horns in sheep 10.3
34 myasthenia gravis 10.2
35 encephalitis 10.2
36 myasthenia gravis congenital 10.2
37 pneumonia 10.2
38 vipoma 10.1
39 spotted fever 10.1
40 neuroleptic malignant syndrome 10.1
41 supranuclear ocular palsy 10.1
42 breast cancer 10.1
43 diabetes mellitus 10.1
44 hypochondroplasia 10.1
45 pelger-huet anomaly 10.1
46 spindle cell hemangioma 10.1
47 asthma 10.1
48 myocardial infarction 10.1
49 acute myocardial infarction 10.1
50 bacterial vaginosis 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

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Stiff-Person Syndrome:

59 32 (show all 30)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 emotional lability 59 32 frequent (33%) Frequent (79-30%) HP:0000712
2 diabetes mellitus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000819
3 hypothyroidism 59 32 occasional (7.5%) Occasional (29-5%) HP:0000821
4 hyperhidrosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0000975
5 emg abnormality 59 32 hallmark (90%) Very frequent (99-80%) HP:0003457
6 anxiety 59 32 hallmark (90%) Very frequent (99-80%) HP:0000739
7 falls 59 32 hallmark (90%) Very frequent (99-80%) HP:0002527
8 rigidity 59 32 frequent (33%) Frequent (79-30%) HP:0002063
9 difficulty walking 59 32 frequent (33%) Frequent (79-30%) HP:0002355
10 intermittent painful muscle spasms 59 32 hallmark (90%) Very frequent (99-80%) HP:0011964
11 lumbar hyperlordosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002938
12 autoimmune antibody positivity 59 32 frequent (33%) Frequent (79-30%) HP:0030057
13 agoraphobia 59 32 frequent (33%) Frequent (79-30%) HP:0000756
14 exaggerated startle response 59 32 frequent (33%) Frequent (79-30%) HP:0002267
15 paraspinal muscle hypertrophy 59 32 frequent (33%) Frequent (79-30%) HP:0012894
16 depressivity 32 HP:0000716
17 hypertension 32 HP:0000822
18 hyperreflexia 32 HP:0001347
19 fever 32 HP:0001945
20 anemia 32 HP:0001903
21 vitiligo 32 HP:0001045
22 autoimmunity 32 HP:0002960
23 abnormality of the nervous system 59 Excluded (0%)
24 myoclonic spasms 32 HP:0003739
25 frequent falls 32 HP:0002359
26 tachycardia 32 HP:0001649
27 opisthotonus 32 HP:0002179
28 proximal limb muscle stiffness 32 HP:0007066
29 axial muscle stiffness 32 HP:0006921
30 asymmetric limb muscle stiffness 32 HP:0007156

UMLS symptoms related to Stiff-Person Syndrome:


fever, opisthotonus, muscle rigidity, increased sweating, hyperexplexia

MGI Mouse Phenotypes related to Stiff-Person Syndrome:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.01 AMPH CSAD GAD1 GAD2 GLRA1 GPHN
2 mortality/aging MP:0010768 9.92 AMPH CSAD GAD1 GAD2 GLRA1 GPHN
3 endocrine/exocrine gland MP:0005379 9.85 AMPH GAD1 GAD2 GLRA1 INS TH
4 nervous system MP:0003631 9.8 AMPH GAD1 GAD2 GLRA1 GPHN INS
5 no phenotypic analysis MP:0003012 9.55 GAD1 GAD2 GLRA1 INS TH
6 normal MP:0002873 9.43 GABARAP GAD1 GAD2 GPHN INS TH
7 respiratory system MP:0005388 9.02 GAD1 GAD2 GLRA1 GPHN TH

Drugs & Therapeutics for Stiff-Person Syndrome

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

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

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:

41
Thyroid, Spinal Cord, Brain, Testes, Bone, Lung, Eye

Publications for Stiff-Person Syndrome

Articles related to Stiff-Person Syndrome:

(show top 50) (show all 428)
# Title Authors Year
1
Common variable immunodeficiency associated with stiff-person syndrome. ( 29407421 )
2018
2
Teaching Video NeuroImages: Electromyographic variation in stiff-person syndrome. ( 29335314 )
2018
3
Case Series: Intrathecal Baclofen Therapy in Stiff-Person Syndrome. ( 29532593 )
2018
4
Treatment and Resolution of Filamentary Keratitis in a Patient with Stiff Person Syndrome. ( 29040122 )
2018
5
Stiff Person Syndrome With Evidence of Nonspecific Focal Myositis Secondary to Sustained Muscle Contraction: A Case Report. ( 29705167 )
2018
6
Anaesthetic management of a patient with a unique combination of anti-N-methyl-D-aspartate receptor encephalitis and stiff-person syndrome. ( 29735495 )
2018
7
Paraneoplastic Stiff Person Syndrome Secondary to Pancreatic Adenocarcinoma. ( 29110193 )
2018
8
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
9
Stiff-person Syndrome with Waldenström Macroglobulinemia. ( 29984750 )
2018
10
Paraneoplastic stiff person syndrome with small cell carcinoma of the bladder and anti-Ri antibodies. ( 30165320 )
2018
11
Longitudinal gait assessment in a stiff person syndrome. ( 30045062 )
2018
12
Inpatient care for stiff person syndrome in the United States: a nationwide readmission study. ( 30123517 )
2018
13
Stiff person syndrome with elevated titers of antibodies against cardiolipin and β2 glycoprotein 1: a case report and literature review. ( 30179217 )
2018
14
Stiff person syndrome with Anti-GAD65 antibodies within the national veterans affairs health administration. ( 30192027 )
2018
15
Successful Anesthetic Management of Patient with Stiff Person Syndrome. ( 30501837 )
2018
16
Case report of a woman with anti amphiphysin positive stiff person syndrome. ( 29870637 )
2017
17
Central Sleep Apnea and Stiff Person Syndrome: A Case Report. ( 28358591 )
2017
18
Evaluation of Treatment Outcomes in Patients with Stiff Person Syndrome with Rituximab vs. Standard of Care. ( 28775927 )
2017
19
Stiff-person syndrome after thymectomy in myasthenia gravis mimicking a post-thymectomy myasthenic crisis. ( 28879920 )
2017
20
Why It Is Not Always Anxiety: A Tough Diagnosis of Stiff Person Syndrome. ( 28890837 )
2017
21
Difficult to Treat Focal, Stiff Person Syndrome of the Left Upper Extremity. ( 29209545 )
2017
22
A case of stiff-person syndrome due to secondary adrenal insufficiency. ( 28552871 )
2017
23
Stiff person syndrome masquerading as multiple sclerosis. ( 28017232 )
2017
24
Stiff Person Syndrome Presenting After the Initiation of Buspirone. ( 28602446 )
2017
25
A double-blind, placebo-controlled study of rituximab in patients with stiff person syndrome. ( 28749549 )
2017
26
Ophthalmoplegia heralding the onset of anti-amphiphysin related paraneoplastic stiff person syndrome. ( 26946498 )
2016
27
Stiff Person Syndrome Masquerading as Acute Coronary Syndrome. ( 27692358 )
2016
28
Serotonin-norepinephrine reuptake inhibitors may exacerbate stiff-person syndrome. ( 27606356 )
2016
29
Clinical Spectrum of Stiff Person Syndrome: A Review of Recent Reports. ( 26989571 )
2016
30
Stiff person syndrome in South Asia. ( 27756410 )
2016
31
Stiff person syndrome and other immune-mediated movement disorders - new insights. ( 27262149 )
2016
32
Stiff-Person Syndrome and Graves' Disease: A Pediatric Case Report. ( 28503622 )
2016
33
Anesthetic Considerations of Stiff-Person Syndrome: A Case Report. ( 27501653 )
2016
34
Long-term efficacy of pregabalin in stiff person syndrome. ( 27527522 )
2016
35
Anesthesia in a patient with Stiff Person Syndrome. ( 27591471 )
2016
36
Acute Respiratory Failure in a Patient with Stiff-Person Syndrome. ( 27430873 )
2016
37
Poster 360 Acute Rehabilitation of a Patient with Stiff Person Syndrome (SPS) and GAD-Antibody Cerebellar Ataxia: A Case Report. ( 27673113 )
2016
38
Presynaptic neuromuscular transmission defect in the stiff person syndrome. ( 27905901 )
2016
39
A case report of patient with cerebellar variant of stiff person syndrome. ( 26851693 )
2016
40
Rhabdomyolysis and Autoimmune Variant Stiff-Person Syndrome. ( 28028432 )
2016
41
Multiple anesthetics for a patient with stiff-person syndrome. ( 27185709 )
2016
42
Poster 258 A Novel Approach to the Treatment of Stiff-Person-Syndrome with Botulinum Toxin: A Case Report. ( 27673015 )
2016
43
A unique combination of autoimmune limbic encephalitis, type 1 diabetes, and Stiff person syndrome associated with GAD-65 antibody. ( 27011652 )
2016
44
Utility of ultrasonography in evaluating muscle contractions in stiff-person syndrome. ( 27423620 )
2016
45
Poster 237 Bilateral Hip Fracture During Hospitalization for Spasm Exacerbation in an Adult with Stiff Person Syndrome: A Case Report. ( 27672995 )
2016
46
Anesthetic management of a parturient with Stiff person syndrome for urgent cesarean delivery. ( 27378710 )
2016
47
Paraneoplastic stiff person syndrome: Inpatient rehabilitation outcomes of a rare disease from two cancer rehabilitation programmes. ( 27157044 )
2016
48
Amphiphysin-positive paraneoplastic myelitis and stiff-person syndrome. ( 27734022 )
2016
49
Lockjaw in stiff-person syndrome with autoantibodies against glycine receptors. ( 26767190 )
2016
50
Pediatric stiff-person syndrome with renal failure. ( 26933366 )
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

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

(show all 15)
# Super pathways Score Top Affiliating Genes
1 12.2 GAD1 GAD2 INS
2 12.2 GAD1 GAD2 GPHN TH
3
Show member pathways
12.14 GABARAP GAD1 GAD2 GPHN
4 11.33 GAD1 GAD2 TH
5 11.29 INS TH
6
Show member pathways
11.16 AMPH TH
7
Show member pathways
11.09 GAD1 GAD2
8 11.04 GAD1 GAD2
9
Show member pathways
11.01 GAD1 GAD2
10
Show member pathways
10.92 GPHN TH
11
Show member pathways
10.67 GAD1 GAD2 TH
12 10.66 GAD1 GAD2
13
Show member pathways
10.52 GAD1 GAD2
14
Show member pathways
10.39 CSAD GAD1 GAD2
15 9.84 CSAD GAD1 GAD2

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 cell junction GO:0030054 9.67 AMPH GAD2 GLRA1 GPHN
2 cytoplasmic vesicle GO:0031410 9.62 AMPH GABARAP GAD2 TH
3 axon GO:0030424 9.58 GAD1 GAD2 TH
4 synaptic vesicle membrane GO:0030672 9.43 AMPH GAD2
5 synapse GO:0045202 9.35 AMPH GAD1 GAD2 GLRA1 GPHN
6 smooth endoplasmic reticulum GO:0005790 9.26 GABARAP TH
7 clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane GO:0061202 9.16 GAD1 GAD2
8 inhibitory synapse GO:0060077 8.8 GAD1 GAD2 GLRA1

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

# Name GO ID Score Top Affiliating Genes
1 response to drug GO:0042493 9.58 GAD1 GAD2 TH
2 social behavior GO:0035176 9.43 GAD1 TH
3 cognition GO:0050890 9.37 INS TH
4 carboxylic acid metabolic process GO:0019752 9.33 CSAD GAD1 GAD2
5 response to metal ion GO:0010038 9.32 GPHN TH
6 glutamate decarboxylation to succinate GO:0006540 9.26 GAD1 GAD2
7 neurotransmitter biosynthetic process GO:0042136 9.13 GAD1 GAD2 TH
8 chemical synaptic transmission GO:0007268 9.02 AMPH GABARAP GAD1 GAD2 GLRA1

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

# Name GO ID Score Top Affiliating Genes
1 lyase activity GO:0016829 9.5 CSAD GAD1 GAD2
2 pyridoxal phosphate binding GO:0030170 9.33 CSAD GAD1 GAD2
3 glutamate binding GO:0016595 9.26 GAD1 GAD2
4 glutamate decarboxylase activity GO:0004351 8.96 GAD1 GAD2
5 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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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