MCID: STF001
MIFTS: 60

Stiff-Person Syndrome

Categories: Rare diseases, Neuronal diseases, Endocrine 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 spastic cerebral palsy, and has symptoms including fever, muscle rigidity and opisthotonus. 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 Antibodies have been mentioned in the context of this disorder. Affiliated tissues include thyroid, brain and spinal cord, and related phenotypes are anxiety and hyperhidrosis

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 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 127)
# Related Disease Score Top Affiliating Genes
1 hyperekplexia 31.9 GLRA1 GPHN
2 spastic cerebral palsy 30.0 GAD1 GAD2
3 limbic encephalitis 29.8 AMPH GAD1 GAD2
4 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 29.0 GAD1 GAD2 INS
5 progressive encephalomyelitis with rigidity and myoclonus 12.6
6 sm-ahnmd 12.1
7 smith-magenis syndrome 12.0
8 syndromic x-linked intellectual disability snyder type 12.0
9 ischiocoxopodopatellar syndrome 11.8
10 mental retardation, x-linked, syndromic, snyder-robinson type 11.6
11 systemic mastocytosis 11.5
12 hyperekplexia 1 11.5
13 osteoporosis 11.4
14 systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease 11.4
15 trehalase deficiency 10.9
16 potocki-lupski syndrome 10.9
17 surfactant metabolism dysfunction, pulmonary, 1 10.9
18 surfactant metabolism dysfunction, pulmonary, 2 10.9
19 steatocystoma multiplex 10.9
20 singleton-merten syndrome 10.9
21 aneruptive fever 10.9
22 ventilation pneumonitis 10.9
23 farmer's lung 10.9
24 tularemia 10.9
25 absence of septum pellucidum 10.9
26 paraneoplastic neurologic disorders 10.9
27 paraneoplastic syndromes 10.9
28 myxozoa 10.5
29 thymoma 10.3
30 acromegaly 10.2
31 aceruloplasminemia 10.2
32 ataxia-oculomotor apraxia 3 10.2
33 autoimmune polyendocrine syndrome 10.1 GAD1 GAD2
34 myasthenia gravis 10.1
35 myasthenia gravis congenital 10.1
36 pneumonia 10.1
37 monocarboxylate transporter 1 deficiency 10.0 GAD1 INS
38 lymphoma 10.0
39 thyroiditis 10.0
40 neuronitis 10.0
41 encephalitis 10.0
42 type 1 diabetes mellitus 13 10.0 GAD2 INS
43 spotted fever 10.0
44 bacterial vaginosis 9.9
45 molybdenum cofactor deficiency 9.9 GLRA1 GPHN
46 prediabetes syndrome 9.9 GAD1 INS
47 breast cancer 9.9
48 multiple sclerosis 9.9
49 celiac disease 1 9.9
50 dermatitis herpetiformis, familial 9.9

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



Diseases related to Stiff-Person Syndrome

Symptoms & Phenotypes for Stiff-Person Syndrome

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

UMLS symptoms related to Stiff-Person Syndrome:


fever, muscle rigidity, opisthotonus, hyperexplexia, increased sweating

MGI Mouse Phenotypes related to Stiff-Person Syndrome:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.01 GLRA1 GPHN INS TH AMPH CSAD
2 mortality/aging MP:0010768 9.92 AMPH CSAD GAD1 GAD2 GLRA1 GPHN
3 endocrine/exocrine gland MP:0005379 9.85 GLRA1 INS TH AMPH GAD1 GAD2
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 10)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
rituximab Approved Phase 2 174722-31-7 10201696
2 Antibodies Phase 2,Phase 1
3 Immunoglobulins Phase 2,Phase 1
4 Antibodies, Monoclonal Phase 2
5 Antirheumatic Agents Phase 2
6 Rho(D) Immune Globulin Phase 1
7 gamma-Globulins Phase 1
8 Immunoglobulins, Intravenous Phase 1
9
Glutamic Acid Approved, Nutraceutical 56-86-0 33032
10 Autoantibodies

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Rituximab to Treat Stiff Person Syndrome Completed NCT00091897 Phase 2 Rituximab;rituximab or placebo
2 Stem Cell Transplantation for Stiff Person Syndrome (SPS) Recruiting NCT02282514 Phase 1, Phase 2 Cyclophosphamide;Mesna;rATG;Methylprednisolone;G-CSF;Rituxan
3 Intravenous Immunoglobulin (IVIg) for the Treatment of Stiff-Man Syndrome (SMS) Completed NCT00001550 Phase 1 IVIg
4 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, Brain, Spinal Cord, Testes, Bone, Eye, T Cells

Publications for Stiff-Person Syndrome

Articles related to Stiff-Person Syndrome:

(show top 50) (show all 282)
# 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
Case report of a woman with anti amphiphysin positive stiff person syndrome. ( 29870637 )
2017
9
Central Sleep Apnea and Stiff Person Syndrome: A Case Report. ( 28358591 )
2017
10
Evaluation of Treatment Outcomes in Patients with Stiff Person Syndrome with Rituximab vs. Standard of Care. ( 28775927 )
2017
11
Stiff-person syndrome after thymectomy in myasthenia gravis mimicking a post-thymectomy myasthenic crisis. ( 28879920 )
2017
12
Why It Is Not Always Anxiety: A Tough Diagnosis of Stiff Person Syndrome. ( 28890837 )
2017
13
Difficult to Treat Focal, Stiff Person Syndrome of the Left Upper Extremity. ( 29209545 )
2017
14
A case of stiff-person syndrome due to secondary adrenal insufficiency. ( 28552871 )
2017
15
Stiff person syndrome masquerading as multiple sclerosis. ( 28017232 )
2017
16
Stiff Person Syndrome Presenting After the Initiation of Buspirone. ( 28602446 )
2017
17
A double-blind, placebo-controlled study of rituximab in patients with stiff person syndrome. ( 28749549 )
2017
18
Ophthalmoplegia heralding the onset of anti-amphiphysin related paraneoplastic stiff person syndrome. ( 26946498 )
2016
19
Stiff Person Syndrome Masquerading as Acute Coronary Syndrome. ( 27692358 )
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
Stiff person syndrome in South Asia. ( 27756410 )
2016
23
Stiff person syndrome and other immune-mediated movement disorders - new insights. ( 27262149 )
2016
24
Stiff-Person Syndrome and Graves' Disease: A Pediatric Case Report. ( 28503622 )
2016
25
Anesthetic Considerations of Stiff-Person Syndrome: A Case Report. ( 27501653 )
2016
26
Long-term efficacy of pregabalin in stiff person syndrome. ( 27527522 )
2016
27
Anesthesia in a patient with Stiff Person Syndrome. ( 27591471 )
2016
28
Acute Respiratory Failure in a Patient with Stiff-Person Syndrome. ( 27430873 )
2016
29
Poster 360 Acute Rehabilitation of a Patient with Stiff Person Syndrome (SPS) and GAD-Antibody Cerebellar Ataxia: A Case Report. ( 27673113 )
2016
30
Presynaptic neuromuscular transmission defect in the stiff person syndrome. ( 27905901 )
2016
31
A case report of patient with cerebellar variant of stiff person syndrome. ( 26851693 )
2016
32
Rhabdomyolysis and Autoimmune Variant Stiff-Person Syndrome. ( 28028432 )
2016
33
Multiple anesthetics for a patient with stiff-person syndrome. ( 27185709 )
2016
34
Poster 258 A Novel Approach to the Treatment of Stiff-Person-Syndrome with Botulinum Toxin: A Case Report. ( 27673015 )
2016
35
A unique combination of autoimmune limbic encephalitis, type 1 diabetes, and Stiff person syndrome associated with GAD-65 antibody. ( 27011652 )
2016
36
Utility of ultrasonography in evaluating muscle contractions in stiff-person syndrome. ( 27423620 )
2016
37
Poster 237 Bilateral Hip Fracture During Hospitalization for Spasm Exacerbation in an Adult with Stiff Person Syndrome: A Case Report. ( 27672995 )
2016
38
Anesthetic management of a parturient with Stiff person syndrome for urgent cesarean delivery. ( 27378710 )
2016
39
Paraneoplastic stiff person syndrome: Inpatient rehabilitation outcomes of a rare disease from two cancer rehabilitation programmes. ( 27157044 )
2016
40
Amphiphysin-positive paraneoplastic myelitis and stiff-person syndrome. ( 27734022 )
2016
41
Lockjaw in stiff-person syndrome with autoantibodies against glycine receptors. ( 26767190 )
2016
42
Pediatric stiff-person syndrome with renal failure. ( 26933366 )
2016
43
Erratum: Serotonin-norepinephrine reuptake inhibitors may exacerbate stiff-person syndrome. ( 27761484 )
2016
44
Gastrointestinal and Urologic Sphincter Dysfunction in Stiff Person Syndrome. ( 27861223 )
2016
45
Stiff Person Syndrome with Pyramidal Signs. ( 28360797 )
2016
46
Focal gradual-onset variant of stiff-person syndrome. ( 25636820 )
2015
47
Botulinum toxin a injection to facial and cervical paraspinal muscles in a patient with stiff person syndrome: a case report. ( 25459656 )
2015
48
Stiff Person Syndrome: A Rare Neurological Disorder, Heterogeneous in Clinical Presentation and Not Easy to Treat. ( 26106494 )
2015
49
Familial case reports of stiff-person syndrome. ( 25912339 )
2015
50
Recent Advances and Review on Treatment of Stiff Person Syndrome in Adults and Pediatric Patients. ( 26848416 )
2015

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 synapse GO:0045202 9.35 AMPH GAD1 GAD2 GLRA1 GPHN
5 smooth endoplasmic reticulum GO:0005790 9.26 GABARAP TH
6 clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane GO:0061202 9.16 GAD1 GAD2
7 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 9.61 GAD1 GAD2 TH
2 response to nutrient levels GO:0031667 9.48 INS TH
3 neurotransmitter secretion GO:0007269 9.46 GAD1 GAD2
4 social behavior GO:0035176 9.4 GAD1 TH
5 cognition GO:0050890 9.37 INS TH
6 chemical synaptic transmission GO:0007268 9.35 AMPH GABARAP GAD1 GAD2 GLRA1
7 carboxylic acid metabolic process GO:0019752 9.33 CSAD GAD1 GAD2
8 response to metal ion GO:0010038 9.32 GPHN TH
9 glutamate decarboxylation to succinate GO:0006540 9.26 GAD1 GAD2
10 neurotransmitter biosynthetic process GO:0042136 8.8 GAD1 GAD2 TH

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
Content
Loading form....