ORPHA:207049
Qualitative or quantitative protein defects in neuromuscular diseases
- Type
- Category
- Group
- Group of disorders
- Status
- active
This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Qualitative or quantitative protein defects in neuromuscular diseases | |
| fr | Anomalie qualitative ou quantitative des protéines dans les maladies neuromusculaires | |
| de | Qualitative oder quantitative Protein-Defekte bei Neuromuskulären Krankheiten | |
| es | Anomalías cualitativas o cuantitativas de proteínas en enfermedades neuromusculares | |
| it | Alterazioni quantitative o qualitative delle proteine nelle malattie neuromuscolari | |
| nl | Kwalitatieve of kwantitatieve eiwitdefecten bij neuromusculaire aandoeningen | |
| pt | Deficiências qualitativas ou quantitativas proteicas em doenças neuromusculares | |
| pl | Defekt jakościowy lub ilościowy białek w chorobie nerwowo-mięśniowej | |
| cs | Kvalitativní nebo kvantitativní defekty proteinů u nervosvalových chorob | |
| uk | Якісні або кількісні білкові дефекти при нервово-мязових захворюваннях | |
| zh | 神经肌肉疾病中的定性或定量蛋白质缺陷 | |
| tr | Nöromüsküler hastalıklarda kalitatif veya kantitatif protein defekt |
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| MONDO | 0016139 | E | validated | |
| MONDO | 16139 | E | validated | |
| UMLS | C5680807 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:183497Genetic neuromuscular disease
rare genetic diseases
Children (27):
- ORPHA:207094Laminin subunit alpha 2-related muscular dystrophy
- ORPHA:209224Myotilinopathy
- ORPHA:207107Qualitative or quantitative defects of TRIM32
- ORPHA:424925Qualitative or quantitative defects of Torsin-1A-interacting protein 1
- ORPHA:209059Qualitative or quantitative defects of alpha-actin
- ORPHA:371024Qualitative or quantitative defects of alpha-dystroglycan
- ORPHA:209185Qualitative or quantitative defects of beta-myosin heavy chain (MYH7)
- ORPHA:207104Qualitative or quantitative defects of calpain
- ORPHA:207078Qualitative or quantitative defects of caveolin-3
- ORPHA:207090Qualitative or quantitative defects of collagen 6
- ORPHA:207073Qualitative or quantitative defects of dysferlin
- ORPHA:207085Qualitative or quantitative defects of dystrophin
- ORPHA:209188Qualitative or quantitative defects of emerin
- ORPHA:209203Qualitative or quantitative defects of glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase -
- ORPHA:207098Qualitative or quantitative defects of integrin alpha-7
- ORPHA:209038Qualitative or quantitative defects of myofibrillar proteins
- ORPHA:207110Qualitative or quantitative defects of myotubularin
- ORPHA:209182Qualitative or quantitative defects of nebulin
- ORPHA:207101Qualitative or quantitative defects of perlecan
- ORPHA:209196Qualitative or quantitative defects of plectin
- ORPHA:209199Qualitative or quantitative defects of protein SERCA1
- ORPHA:207052Qualitative or quantitative defects of sarcoglycan
- ORPHA:209193Qualitative or quantitative defects of selenoprotein N1
- ORPHA:209056Qualitative or quantitative defects of telethonin
- ORPHA:209053Qualitative or quantitative defects of titin
- ORPHA:284790Qualitative or quantitative defects of tropomyosin
- ORPHA:284786Qualitative or quantitative defects of troponin
4
Genes
0 directOrphanet records no gene directly on this code.
5
Prevalence and incidence
0 recordsNo prevalence record in this release.
6
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/207049
- This record as JSON: /data/d/207049.json