MCID: STF001
MIFTS: 61

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 53 12 50 41 14 69
Stiff-Man Syndrome 53 12 51
Stiff Man Syndrome 12 49 55
Sps 53 49 55
Stiff Person Syndrome and Related Disorders 49 55
Moersch-Woltman Syndrome 49 55
Stiff Person Syndrome 72 49
Sms 49 55
Progressive Encephalomyelitis with Rigidity and Myoclonus 55
Progressive Encephalomyelitis with Rigidity 69
Classic Stiff Person Syndrome 55
Focal Stiff-Person Syndrome 55
Focal Stiff Limb Syndrome 55
Morsch Woltman Syndrome 49
Stiff-Trunk Syndrome 53
Stiff Leg Syndrome 55
Classic Sps 55
Perm 55

Characteristics:

Orphanet epidemiological data:

55
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:

53
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:

31
stiff-person syndrome:
Onset and clinical course adult onset
Inheritance sporadic


Classifications:



Summaries for Stiff-Person Syndrome

OMIM : 53 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 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity, and has symptoms including emotional lability, diabetes mellitus and hypothyroidism. 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 behavior/neurological and mortality/aging

NIH Rare Diseases : 49 Stiff person syndrome (SPS) is an autoimmune disease that affects the nervous system, specifically the brain and spinal cord. 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. People with SPS may also have abnormal postures, such as being hunched over. The syndrome affects twice as many women as men. It is frequently associated with other autoimmune diseases such as diabetes, thyroiditis, vitiligo, and pernicious anemia. SPS may be diagnosed by a blood test for glutamic acid decarboxylase (GAD) antibodies because people with SPS usually have elevated levels of GAD antibodies. Treatment may involve high-dose diazepam, anti-convulsants, or intravenous immunoglobulin (IVIG).  Last updated: 7/23/2017

NINDS : 50 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.

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

Wikipedia : 72 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 131)
# Related Disease Score Top Affiliating Genes
1 hyperekplexia 32.1 GLRA1 GPHN
2 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 30.2 GAD1 GAD2 INS
3 spastic cerebral palsy 30.0 GAD1 GAD2
4 limbic encephalitis 29.9 AMPH GAD1 GAD2
5 diabetes mellitus 29.3 GAD1 GAD2 INS
6 autoimmune disease 29.1 GAD1 GAD2 INS
7 sm-ahnmd 12.1
8 smith-magenis syndrome 12.0
9 syndromic x-linked intellectual disability snyder type 12.0
10 hyperekplexia 1 11.7
11 ischiocoxopodopatellar syndrome 11.6
12 mental retardation, x-linked, syndromic, snyder-robinson type 11.6
13 systemic mastocytosis 11.5
14 hyperekplexia, hereditary 1 11.5
15 systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease 11.4
16 osteoporosis 11.1
17 potocki-lupski syndrome 10.9
18 surfactant metabolism dysfunction, pulmonary, 1 10.9
19 surfactant metabolism dysfunction, pulmonary, 2 10.9
20 steatocystoma multiplex 10.9
21 singleton-merten syndrome 10.9
22 paraneoplastic neurologic disorders 10.9
23 progressive encephalomyelitis with rigidity and myoclonus 10.9
24 paraneoplastic syndromes 10.9
25 aneruptive fever 10.9
26 ventilation pneumonitis 10.9
27 farmer's lung 10.9
28 tularemia 10.9
29 absence of septum pellucidum 10.9
30 myxozoa 10.5
31 thymoma, familial 10.3
32 thymoma 10.3
33 ataxia and polyneuropathy, adult-onset 10.2
34 aceruloplasminemia 10.2
35 ataxia-oculomotor apraxia 3 10.2
36 cataract congenital dominant non nuclear 10.1
37 acromegaly 10.1
38 molybdenum cofactor deficiency 10.1 GLRA1 GPHN
39 autoimmune polyendocrine syndrome 10.1 GAD1 GAD2
40 monocarboxylate transporter 1 deficiency 10.0 GAD1 INS
41 pneumonia 10.0
42 type 1 diabetes mellitus 13 10.0 GAD2 INS
43 myasthenia gravis 10.0
44 lymphoma 10.0
45 adenocarcinoma 10.0
46 thyroiditis 10.0
47 neuronitis 10.0
48 myasthenia gravis congenital 10.0
49 prediabetes syndrome 10.0 GAD1 INS
50 blood group, i system 10.0

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:

53
NeurologicCentralNervousSystem:
opisthotonus
hyperreflexia
rigidity
frequent falls
stiff gait
more
CardiovascularVascular:
hypertension

MetabolicFeatures:
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)

NeurologicBehavioralPsychiatricManifestations:
depression
anxiety
agoraphobia
specific phobias

CardiovascularHeart:
tachycardia

SkinNailsHairSkin:
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:

55 31 (show all 30)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 emotional lability 55 31 frequent (33%) Frequent (79-30%) HP:0000712
2 diabetes mellitus 55 31 occasional (7.5%) Occasional (29-5%) HP:0000819
3 hypothyroidism 55 31 occasional (7.5%) Occasional (29-5%) HP:0000821
4 hyperhidrosis 55 31 hallmark (90%) Very frequent (99-80%) HP:0000975
5 emg abnormality 55 31 hallmark (90%) Very frequent (99-80%) HP:0003457
6 anxiety 55 31 hallmark (90%) Very frequent (99-80%) HP:0000739
7 falls 55 31 hallmark (90%) Very frequent (99-80%) HP:0002527
8 rigidity 55 31 frequent (33%) Frequent (79-30%) HP:0002063
9 difficulty walking 55 31 frequent (33%) Frequent (79-30%) HP:0002355
10 lumbar hyperlordosis 55 31 occasional (7.5%) Occasional (29-5%) HP:0002938
11 autoimmune antibody positivity 55 31 frequent (33%) Frequent (79-30%) HP:0030057
12 intermittent painful muscle spasms 55 31 hallmark (90%) Very frequent (99-80%) HP:0011964
13 agoraphobia 55 31 frequent (33%) Frequent (79-30%) HP:0000756
14 exaggerated startle response 55 31 frequent (33%) Frequent (79-30%) HP:0002267
15 paraspinal muscle hypertrophy 55 31 frequent (33%) Frequent (79-30%) HP:0012894
16 fever 31 HP:0001945
17 opisthotonus 31 HP:0002179
18 hypertension 31 HP:0000822
19 hyperreflexia 31 HP:0001347
20 anemia 31 HP:0001903
21 vitiligo 31 HP:0001045
22 autoimmunity 31 HP:0002960
23 abnormality of the nervous system 55 Excluded (0%)
24 tachycardia 31 HP:0001649
25 frequent falls 31 HP:0002359
26 myoclonic spasms 31 HP:0003739
27 proximal limb muscle stiffness 31 HP:0007066
28 depressivity 31 HP:0000716
29 axial muscle stiffness 31 HP:0006921
30 asymmetric limb muscle stiffness 31 HP:0007156

UMLS symptoms related to Stiff-Person Syndrome:


muscle rigidity, increased sweating, hyperexplexia, opisthotonus, fever

MGI Mouse Phenotypes related to Stiff-Person Syndrome:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.01 GLRA1 GPHN AMPH INS CSAD GAD1
2 mortality/aging MP:0010768 9.92 GLRA1 GPHN AMPH CSAD INS GAD1
3 endocrine/exocrine gland MP:0005379 9.85 GLRA1 AMPH INS GAD1 TH GAD2
4 nervous system MP:0003631 9.8 GLRA1 GPHN AMPH INS GAD1 TH
5 no phenotypic analysis MP:0003012 9.55 GLRA1 INS GAD1 TH GAD2
6 normal MP:0002873 9.43 GPHN INS GABARAP GAD1 TH GAD2
7 respiratory system MP:0005388 9.02 GAD2 GLRA1 GPHN GAD1 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 Antibodies, Monoclonal Phase 2
4 Antirheumatic Agents Phase 2
5 Immunoglobulins Phase 2,Phase 1
6 gamma-Globulins Phase 1
7 Immunoglobulins, Intravenous Phase 1
8 Rho(D) Immune Globulin 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
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:

38
Thyroid, Brain, Spinal Cord, Testes, Eye, T Cells, Cortex

Publications for Stiff-Person Syndrome

Articles related to Stiff-Person Syndrome:

(show top 50) (show all 273)
# Title Authors Year
1
Common variable immunodeficiency associated with stiff-person syndrome. ( 29407421 )
2018
2
Treatment and Resolution of Filamentary Keratitis in a Patient with Stiff Person Syndrome. ( 29040122 )
2018
3
Teaching Video NeuroImages: Electromyographic variation in stiff-person syndrome. ( 29335314 )
2018
4
Paraneoplastic Stiff Person Syndrome Secondary to Pancreatic Adenocarcinoma. ( 29110193 )
2018
5
Central Sleep Apnea and Stiff Person Syndrome: A Case Report. ( 28358591 )
2017
6
Why It Is Not Always Anxiety: A Tough Diagnosis of Stiff Person Syndrome. ( 28890837 )
2017
7
A double-blind, placebo-controlled study of rituximab in patients with stiff person syndrome. ( 28749549 )
2017
8
Stiff-person syndrome after thymectomy in myasthenia gravis mimicking a post-thymectomy myasthenic crisis. ( 28879920 )
2017
9
Stiff Person Syndrome Presenting After the Initiation of Buspirone. ( 28602446 )
2017
10
Evaluation of Treatment Outcomes in Patients with Stiff Person Syndrome with Rituximab vs. Standard of Care. ( 28775927 )
2017
11
Stiff person syndrome masquerading as multiple sclerosis. ( 28017232 )
2017
12
A case of stiff-person syndrome due to secondary adrenal insufficiency. ( 28552871 )
2017
13
Difficult to Treat Focal, Stiff Person Syndrome of the Left Upper Extremity. ( 29209545 )
2017
14
Erratum: Serotonin-norepinephrine reuptake inhibitors may exacerbate stiff-person syndrome. ( 27761484 )
2016
15
Stiff person syndrome and other immune-mediated movement disorders - new insights. ( 27262149 )
2016
16
Serotonin-norepinephrine reuptake inhibitors may exacerbate stiff-person syndrome. ( 27606356 )
2016
17
Poster 237 Bilateral Hip Fracture During Hospitalization for Spasm Exacerbation in an Adult with Stiff Person Syndrome: A Case Report. ( 27672995 )
2016
18
Anesthetic management of a parturient with Stiff person syndrome for urgent cesarean delivery. ( 27378710 )
2016
19
Stiff Person Syndrome Masquerading as Acute Coronary Syndrome. ( 27692358 )
2016
20
Lockjaw in stiff-person syndrome with autoantibodies against glycine receptors. ( 26767190 )
2016
21
Pediatric stiff-person syndrome with renal failure. ( 26933366 )
2016
22
Stiff Person Syndrome with Pyramidal Signs. ( 28360797 )
2016
23
Ophthalmoplegia heralding the onset of anti-amphiphysin related paraneoplastic stiff person syndrome. ( 26946498 )
2016
24
Long-term efficacy of pregabalin in stiff person syndrome. ( 27527522 )
2016
25
Poster 258 A Novel Approach to the Treatment of Stiff-Person-Syndrome with Botulinum Toxin: A Case Report. ( 27673015 )
2016
26
Amphiphysin-positive paraneoplastic myelitis and stiff-person syndrome. ( 27734022 )
2016
27
Acute Respiratory Failure in a Patient with Stiff-Person Syndrome. ( 27430873 )
2016
28
Poster 360 Acute Rehabilitation of a Patient with Stiff Person Syndrome (SPS) and GAD-Antibody Cerebellar Ataxia: A Case Report. ( 27673113 )
2016
29
Presynaptic neuromuscular transmission defect in the stiff person syndrome. ( 27905901 )
2016
30
Anesthetic Considerations of Stiff-Person Syndrome: A Case Report. ( 27501653 )
2016
31
Gastrointestinal and Urologic Sphincter Dysfunction in Stiff Person Syndrome. ( 27861223 )
2016
32
A unique combination of autoimmune limbic encephalitis, type 1 diabetes, and Stiff person syndrome associated with GAD-65 antibody. ( 27011652 )
2016
33
Stiff-Person Syndrome and Graves' Disease: A Pediatric Case Report. ( 28503622 )
2016
34
Clinical Spectrum of Stiff Person Syndrome: A Review of Recent Reports. ( 26989571 )
2016
35
Multiple anesthetics for a patient with stiff-person syndrome. ( 27185709 )
2016
36
Utility of ultrasonography in evaluating muscle contractions in stiff-person syndrome. ( 27423620 )
2016
37
Stiff person syndrome in South Asia. ( 27756410 )
2016
38
Anesthesia in a patient with Stiff Person Syndrome. ( 27591471 )
2016
39
A case report of patient with cerebellar variant of stiff person syndrome. ( 26851693 )
2016
40
Paraneoplastic stiff person syndrome: Inpatient rehabilitation outcomes of a rare disease from two cancer rehabilitation programmes. ( 27157044 )
2016
41
Rhabdomyolysis and Autoimmune Variant Stiff-Person Syndrome. ( 28028432 )
2016
42
Are patients with truncal type of Stiff Person Syndrome hidden in a heterogenous group of non-radiographic axial spondyloarthritis? ( 26005769 )
2015
43
Pearls & Oy-sters: Tonic eye deviation in stiff-person syndrome. ( 25917489 )
2015
44
A Rare Case of Childhood Stiff Person Syndrome Associated With Pleuropulmonary Blastoma. ( 26344328 )
2015
45
A Report of Stiff Person Syndrome in Tanzania with First Epidemiological Figures for Sub-Saharan Africa. ( 26316197 )
2015
46
Stiff person syndrome: a tough and rigid case. ( 26040059 )
2015
47
Therapeutic plasma exchange in two patients with stiff-person syndrome. ( 26407506 )
2015
48
Elevated Serum GAD65 and GAD65-GADA Immune Complexes in Stiff Person Syndrome. ( 26080009 )
2015
49
A Case of Stiff Person Syndrome: Immunomodulatory Effect of Benzodiazepines: Successful Rituximab and Tizanidine Therapy. ( 26061327 )
2015
50
Stiff-person syndrome with central sleep apnea after thymoma excision: report of the first known case. ( 26238984 )
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 dendrite GO:0030425 9.61 GLRA1 GPHN TH
4 axon GO:0030424 9.58 GAD1 GAD2 TH
5 synaptic vesicle membrane GO:0030672 9.46 AMPH GAD2
6 synapse GO:0045202 9.35 AMPH GAD1 GAD2 GLRA1 GPHN
7 smooth endoplasmic reticulum GO:0005790 9.26 GABARAP TH
8 clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane GO:0061202 9.16 GAD1 GAD2
9 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 9.63 GAD1 GAD2 TH
2 neurotransmitter secretion GO:0007269 9.43 GAD1 GAD2
3 social behavior GO:0035176 9.4 GAD1 TH
4 cognition GO:0050890 9.37 INS TH
5 carboxylic acid metabolic process GO:0019752 9.33 CSAD GAD1 GAD2
6 response to metal ion GO:0010038 9.32 GPHN TH
7 glutamate decarboxylation to succinate GO:0006540 9.26 GAD1 GAD2
8 neurotransmitter biosynthetic process GO:0042136 9.13 GAD1 GAD2 TH
9 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
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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