eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| stiff person syndrome | ||||
| Disease ID | 794 |
|---|---|
| Disease | stiff person syndrome |
| Definition | A condition characterized by persistent spasms (SPASM) involving multiple muscles, primarily in the lower limbs and trunk. The illness tends to occur in the fourth to sixth decade of life, presenting with intermittent spasms that become continuous. Minor sensory stimuli, such as noise and light touch, precipitate severe spasms. Spasms do not occur during sleep and only rarely involve cranial muscles. Respiration may become impaired in advanced cases. (Adams et al., Principles of Neurology, 6th ed, p1492; Neurology 1998 Jul;51(1):85-93) |
| Synonym | congenital stiff man syndrome congenital stiff-man syndrome congenital stiff-man syndromes congenital stiff-person syndrome congenital stiff-person syndromes gamma neuron overactivity syndrome mans stiff syndrome moersch woltman syndrome moersch woltmann syndrome moersch-woltman syndrome moersch-woltmann syndrome muscular rigidity and spasm, progressive person stiff syndrome persons stiff syndrome sps startle syndrome startle syndromes stiff man syndrome stiff mans syndrome stiff trunk syndrome stiff-baby syndrome stiff-baby syndromes stiff-man syndrome stiff-man syndrome (disorder) stiff-man syndrome, congenital stiff-man syndromes, congenital stiff-person syndrome stiff-person syndrome [disease/finding] stiff-person syndrome, congenital stiff-person syndromes, congenital stiff-trunk syndrome stiff-trunk syndromes stiffman syndrome syndrome, congenital stiff-man syndrome, congenital stiff-person syndrome, moersch-woltmann syndrome, startle syndrome, stiff-baby syndrome, stiff-man syndrome, stiff-person syndrome, stiff-trunk syndrome, stiffman syndromes, congenital stiff-man syndromes, congenital stiff-person syndromes, startle syndromes, stiff-baby syndromes, stiff-trunk |
| Orphanet | |
| OMIM | |
| DOID | |
| ICD10 | |
| UMLS | C0085292 |
| MeSH | |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:18) C0040100 | thymoma | 2 C0011847 | diabetes | 2 C0021053 | immune disease | 2 C0339143 | dysthyroid ophthalmopathy | 1 C0409974 | lupus erythematosus | 1 C0002871 | anemia | 1 C0037315 | sleep apnea | 1 C0520680 | central sleep apnea | 1 C0007102 | colon cancer | 1 C0032285 | pneumonia | 1 C0345967 | malignant mesothelioma | 1 C0278848 | recurrent thymoma | 1 C0024141 | systemic lupus erythematosus | 1 C0002892 | pernicious anemia | 1 C1145670 | respiratory failure | 1 C0339143 | thyroid ophthalmopathy | 1 C0242287 | neuromyotonia | 1 C0205969 | thymic carcinoma | 1 |
| Curated Gene | (Waiting for update.) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:41) 3267 | AGFG1 | 1.531 | DISEASES 26289 | AK5 | 2.444 | DISEASES 273 | AMPH | 6.838 | DISEASES 361 | AQP4 | 1.062 | DISEASES 820 | CAMP | 2.023 | DISEASES 959 | CD40LG | 1.47 | DISEASES 1038 | CDR1 | 1.519 | DISEASES 6900 | CNTN2 | 1.408 | DISEASES 26047 | CNTNAP2 | 2.754 | DISEASES 1644 | DDC | 2.134 | DISEASES 51428 | DDX41 | 3.055 | DISEASES 1804 | DPP6 | 3.054 | DISEASES 1995 | ELAVL3 | 1.378 | DISEASES 1996 | ELAVL4 | 1.589 | DISEASES 2571 | GAD1 | 5.521 | DISEASES 2643 | GCH1 | 1.163 | DISEASES 2741 | GLRA1 | 2.266 | DISEASES 10243 | GPHN | 5.016 | DISEASES 9454 | HOMER3 | 2.933 | DISEASES 3329 | HSPD1 | 1.492 | DISEASES 102723508 | KANTR | 4.388 | DISEASES 3751 | KCND2 | 1.689 | DISEASES 3898 | LAD1 | 2.036 | DISEASES 9211 | LGI1 | 2.563 | DISEASES 25802 | LMOD1 | 2.221 | DISEASES 4099 | MAG | 2.836 | DISEASES 100507436 | MICA | 3.032 | DISEASES 170685 | NUDT10 | 2.139 | DISEASES 4976 | OPA1 | 1.641 | DISEASES 103164619 | PCAT2 | 2.122 | DISEASES 10687 | PNMA2 | 2.169 | DISEASES 9374 | PPT2 | 2.045 | DISEASES 5733 | PTGER3 | 1.366 | DISEASES 3921 | RPSA | 2.319 | DISEASES 9152 | SLC6A5 | 2.389 | DISEASES 9892 | SNAP91 | 2.628 | DISEASES 7054 | TH | 1.113 | DISEASES 8718 | TNFRSF25 | 1.986 | DISEASES 79155 | TNIP2 | 2.976 | DISEASES 22906 | TRAK1 | 2.837 | DISEASES 7273 | TTN | 1.843 | DISEASES |
| Locus | (Waiting for update.) |
| Disease ID | 794 |
|---|---|
| Disease | stiff person syndrome |
| Integrated Phenotype | (Waiting for update.) |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:14) HP:0002960 | Autoimmune condition | 3 HP:0100522 | Thymoma | 2 HP:0100528 | Pleuropulmonary blastoma | 1 HP:0012538 | Gluten sensitivity | 1 HP:0002104 | Absence of spontaneous respiration | 1 HP:0010536 | Central sleep apnoea | 1 HP:0010535 | Sleep apnea | 1 HP:0002090 | Pneumonia | 1 HP:0002487 | Muscle spasms | 1 HP:0002725 | Systemic lupus erythematosus | 1 HP:0001903 | Anemia | 1 HP:0100001 | Malignant mesothelioma | 1 HP:0003003 | Colon cancer | 1 HP:0002063 | Muscle rigidity | 1 |
| Disease ID | 794 |
|---|---|
| Disease | stiff person syndrome |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:2) |
| Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:4) C0037763 | muscle spasms | 1 C0235169 | excitability | 1 C0004364 | autoimmune diseases | 1 C0850024 | gluten sensitivity | 1 |
Manually Genotype(Total Text Mining Genotypes:0) |
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| (Waiting for update.) |
Text Mining Genotype(Total Genotypes:0) | |
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| (Waiting for update.) | |
All Snps(Total Genotypes:2) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs143918578 | 22753417 | 9152 | SLC6A5 | umls:C0085292 | BeFree | A novel dominant hyperekplexia mutation Y705C alters trafficking and biochemical properties of the presynaptic glycine transporter GlyT2. | 0.001900093 | 2012 | SLC6A5 | 11 | 20652332 | A | G |
| rs281864914 | 16078201 | 2741 | GLRA1 | umls:C0085292 | BeFree | Recessive hyperekplexia due to a new mutation (R100H) in the GLRA1 gene. | 0.010857675 | 2005 | GLRA1 | 5 | 151859962 | C | T |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:0) |
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| (Waiting for update.) |
Mapped by homologous gene(Total Items:0) |
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| (Waiting for update.) |
| Disease ID | 794 |
|---|---|
| Disease | stiff person syndrome |
| Case | (Waiting for update.) |