ORPHA:602
GNE myopathy
Synonyms: DMRV · Distal myopathy with rimmed vacuoles · Distal myopathy, Nonaka type · HIBM2 · Hereditary inclusion body myopathy type 2 · IBM2 · Inclusion body myopathy type 2 · Nonaka myopathy · Quadriceps-sparing myopathy
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant, Autosomal recessive
- Age of onset
- Adolescent, Adult
- Status
- active
GNE myopathy is a rare autosomal recessive distal myopathy characterized by early adult-onset, slowly to moderately progressive distal muscle weakness that preferentially affects the tibialis anterior muscle and that usually spares the quadriceps femoris. Muscle biopsy reveals presence of rimmed vacuoles.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | GNE myopathy | DMRV · Distal myopathy with rimmed vacuoles · Distal myopathy, Nonaka type · HIBM2 · Hereditary inclusion body myopathy type 2 · IBM2 · Inclusion body myopathy type 2 · Nonaka myopathy · Quadriceps-sparing myopathy |
| fr | Myopathie liée à GNE | Myopathie à corps d'inclusion type 2 · Myopathie à inclusions héréditaire type 2 · Myopathie à inclusions type 2 · Myopathie épargnant le quadriceps · HIBM2 · IBM2 · Myopathie de Nonaka · Myopathie distale type Nonaka · Myopathie distale à vacuoles bordées · Myopathie à corps d'inclusion héréditaire type 2 |
| de | GNE-Myopathie | DMRV · Einschlusskörperchenmyopathie Typ 2 · Einschlusskörperchenmyopathie, hereditäre, Typ 2 · HIBM2 · IBM2 · M. quadriceps-aussparende Myopathie · Myopathie, distale, Typ Nonaka · Myopathie, distale, mit intrazytoplasmatischen Einschlüssen · Nonaka-Myopathie |
| es | Miopatía GNE | DMRV · HIBM2 · IBM2 · Miopatía con cuerpos de inclusión tipo 2 · Miopatía de Nonaka · Miopatía distal con vacuolas ribeteadas · Miopatía distal tipo Nonaka · Miopatía hereditaria con cuerpos de inclusión tipo 2 · Miopatía sin afectación del cuadriceps |
| it | Miopatia GNE | HIBM2 · IBM2 · Miopatia che risparmia i quadricipiti · Miopatia da corpi inclusi, tipo 2 · Miopatia di Nonaka · Miopatia distale con vacuoli orlati · Miopatia ereditaria da corpi inclusi, tipo 2 |
| nl | GNE-myopathie | 'Inclusion body'-myopathie type 2 · DMRV · Distale myopathie met omrande vacuolen · Distale myopathie met rimmed vacuoles · Distale myopathie, Nonaka-type · Erfelijke 'inclusion body'-myopathie type 2 · Erfelijke inclusielichaammyopathie type 2 · HIBM2 · IBM2 · Inclusielichaammyopathie type 2 · Myopathie van Nonaka · Quadricepssparende myopathie · Spierdystrofie van Nonaka |
| pt | Miopatia distal tipo Nonaka | Miopatia com corpos de inclusão tipo 2 · Miopatia com corpos de inclusão, hereditária · Miopatia de Nonaka · Miopatia distal com vacúolos bordejados · Miopatia que poupa os quadriceps |
| pl | Miopatia dystalna typu Nonaka | Dziedziczna miopatia ciałek wtrętowych typu 2 · HIBM2 · IBM2 · Miopatia ciałek wtrętowych typu 2 · Miopatia dystalna z wakuolami · Miopatia Nonaka · Miopatia oszczędzająca mięsień czworogłowy |
| cs | GNE myopatie | DMRV · Distální myopatie s lemovanými vakuolami · HIBM2 · IBM2 · Nonakova myopatie · Myopatie opomíjející kvadriceps · Distální myopatie, Nonakův typ · Hereditární myopatie s inkluzními tělísky, typ 2 · Myopatie s inkluzními tělísky, typ 2 |
| uk | GNE міопатія | Дистальна міопатія з облямованими вакуолями · Дистальна міопатія, тип Нонака · DMRV · Спадкова інклюзивна міопатія тіла 2 типу · HIBM2 · IBM2 · Міопатія з тільцями включення 2 типу · Міопатія Нонака · Міопатія, що не пошкоджує чотириголовий мяз |
| zh | 包涵体肌炎病 | 遗传性包涵体肌病2型 |
| tr | GNE miyopati | DMRV · IBM2 · HIBM2 · Nonaka miyopatisi · Kuadriseps-ayrılan miyopati · Distal miyopati, Nonaka tipi · inklüzyon cisimciği miyopatisi tip 2 · Kenarlı vakuoller ile ilişkili distal miyopati · Kalıtsal inklüzyon vücut miyopatisi tip 2 |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 605820 | E | validated | |
| OMIM | 617158 | BTNT | validated | |
| ICD-10 | G71.8 | NTBT | attributed | validated |
| ICD-11 | 8C75 | NTBT | index | validated |
| MONDO | 0011603 | E | validated | |
| MeSH | C536816 | E | validated | |
| UMLS | C1853926 | E | validated | |
| GARD | 9493 | E | validated | |
| MedDRA | 10077945 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (6):
- ORPHA:206653Autosomal recessive distal myopathy
rare genetic diseases; rare neurological diseases - ORPHA:371047Congenital disorder of glycosylation with neurological involvement
rare genetic diseases; rare neurological diseases - ORPHA:309526Disorder of multiple glycosylation
rare inborn errors of metabolism; rare genetic diseases - ORPHA:206662Inclusion myopathy
rare genetic diseases; rare neurological diseases - ORPHA:209203Qualitative or quantitative defects of glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase -
rare genetic diseases - ORPHA:477794Syndromic constitutional thrombocytopenia
rare genetic diseases; rare hematological diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| GNE | Disease-causing germline mutation(s) in | Assessed | HGNC:23657 | ENSG00000159921 | 603824 | 9p13.3 | glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase | 11916006[PMID]_20301439[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-9 / 100 000 | 1 / 100 000 | Worldwide | Value and class | Validated | 25002140[PMID] |
| Point prevalence | 6-9 / 10 000 | 66.7 / 100 000 | Specific population | Value and class | Validated | 12743242[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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HPO phenotypes
28 annotations · validated 2017-01-10| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0012548 | Fatty replacement of skeletal muscle | |
| HP:0009027 | Foot dorsiflexor weakness | |
| HP:0007340 | Lower limb muscle weakness | |
| HP:0008180 | Mildly elevated creatine kinase | |
| HP:0100299 | Muscle fiber inclusion bodies | |
| HP:0003805 | Rimmed vacuoles | |
| HP:0008963 | Tibialis muscle weakness | |
| Frequent (79-30%) | ||
| HP:0003438 | Absent Achilles reflex | |
| HP:0003458 | EMG: myopathic abnormalities | |
| HP:0100284 | EMG: myotonic discharges | |
| HP:0030007 | EMG: positive sharp waves | |
| HP:0012515 | Hip flexor weakness | |
| HP:0000821 | Hypothyroidism | |
| HP:0003557 | Increased variability in muscle fiber diameter | |
| HP:0006467 | Limited shoulder movement | |
| HP:0006251 | Limited wrist extension | |
| HP:0003547 | Shoulder girdle muscle weakness | |
| HP:0003376 | Steppage gait | |
| Occasional (29-5%) | ||
| HP:0001436 | Abnormality of the foot musculature | |
| HP:0040047 | Abnormality of the right hemidiaphragm | |
| HP:0010628 | Facial palsy | |
| HP:0007210 | Lower limb amyotrophy | |
| HP:0001324 | Muscle weakness | |
| HP:0003691 | Scapular winging | |
| HP:0003724 | Shoulder girdle muscle atrophy | |
| Very rare (<4-1%) | ||
| HP:0001638 | Cardiomyopathy | |
| HP:0009077 | Weakness of long finger extensor muscles | |
| Excluded (0%) | ||
| HP:0003731 | Quadriceps muscle weakness | |
Run the differential on the 7 obligate / very frequent terms
Annotation source: 11721884[PMID]_26208961[PMID]_23549799[PMID]_26546927[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/602
- This record as JSON: /data/d/602.json