ORPHA:206554
Fukutin-related limb-girdle muscular dystrophy R13
Synonyms: Autosomal recessive LGMD type 2M · Autosomal recessive limb-girdle muscular dystrophy type 2M · Fukutin-related LGMD R13 · LGMD type 2M · LGMD2M
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy
- Status
- active
A form of limb-girdle muscular dystrophy characterized by an infantile onset of hypotonia, axial and proximal lower limb weakness (with severe weakness noted after febrile illnesses), cardiomyopathy and normal or reduced intelligence. Hypertrophy of calves, thighs, and triceps have also been reported in some cases.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Fukutin-related limb-girdle muscular dystrophy R13 | Autosomal recessive LGMD type 2M · Autosomal recessive limb-girdle muscular dystrophy type 2M · Fukutin-related LGMD R13 · LGMD type 2M · LGMD2M |
| fr | Dystrophie musculaire des ceintures liée à la fukutine R13 | Dystrophie musculaire des ceintures autosomique récessive type 2M · Dystrophie musculaire des ceintures type 2M · LGMD liée à la fukutine R13 · LGMD type 2M · LGMD2M |
| de | Fukutin-assoziierte Gliedergürtelmuskeldystrophie R13 | Fukutin-assoziierte LGMD R13 · Gliedergürtelmuskeldystrophie LGMD Typ 2M · Gliedergürtelmuskeldystrophie, autosomal-rezessive, Typ 2M · LGMD Typ 2M · LGMD2M |
| es | Distrofia muscular de cinturas R13 asociada a fukutina | Distrofia muscular de cinturas autosómica recesiva tipo 2M · LGMD2M |
| it | Distrofia muscolare dei cingoli, autosomica recessiva, tipo 2M | LGMD2M |
| nl | Fukutine-gerelateerde limb-girdle-spierdystrofie R13 | Autosomaal recessieve bekken- en schoudergordel-spierdystrofie type 2M · Autosomaal recessieve ledemaatgordel-spierdystrofie type 2M · Autosomaal recessieve limb-girdle-spierdystrofie type 2M · Fukutine-gerelateerde LGMD R13 · LGMD type 2M · LGMD2M · Limb-girdle-spierdystrofie type 2M · Autosomaal recessieve LGMD type 2M |
| pt | Distrofia muscular das cinturas dos membros R13 fucutina-relacionada | Distrofia muscular das cinturas dos membros autossómica recessiva tipo 2M |
| pl | Autosomalna recesywna dystrofia obręczowo-kończynowa typu 2M | LGMD2M |
| cs | Autozomálně recesivní pletencová svalová dystrofie, typ 2M | LGMD2M |
| uk | Фукутин-асоційована кінцівково-поясна мязова дистрофія R13 | Аутосомно-рецесивна LGMD типу 2М · Аутосомно-рецесивна мязова дистрофія мязів кінцівок, тип 2М · Повязаний з фукутином LGMD R13 · LGMD тип 2M · LGMD2M |
| zh | Fukutin蛋白相关的肢带肌萎缩症R13型 | 常染色体隐性遗传肢带型肌营养不良2M型 |
| tr | Fukutin -ilişkili ekstremite kavşak tip kas distrofisi R13 | LGMD2M · LGMD tipi 2M · Fukutin-ilişkili LGMD R13 · Otozomal çekinik LGMD tip 2M · Otozomal Çekinik ekstremite-kavşak tipi kas distrofisi tip 2M |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 611588 | E | validated | |
| ICD-10 | G71.0 | NTBT | attributed | validated |
| ICD-11 | 8C70.41 | NTBT | attributed | validated |
| MONDO | 0012699 | E | validated | |
| MeSH | C566912 | E | validated | |
| UMLS | C1969040 | 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:102015Autosomal recessive limb-girdle muscular dystrophy
rare genetic diseases; rare neurological diseases - ORPHA:371176Congenital disorder of glycosylation with dilated cardiomyopathy
rare cardiac diseases; rare genetic diseases; rare transplant-related disorders - ORPHA:371047Congenital disorder of glycosylation with neurological involvement
rare genetic diseases; rare neurological diseases - ORPHA:309469Disorder of O-mannosylglycan synthesis
rare inborn errors of metabolism; rare genetic diseases - ORPHA:217610Neuromuscular disease with dilated cardiomyopathy
rare cardiac diseases; rare genetic diseases; rare transplant-related disorders - ORPHA:207122Qualitative or quantitative defects of fukutin
rare genetic diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| FKTN | Disease-causing germline mutation(s) in | Assessed | HGNC:3622 | ENSG00000106692 | 607440 | 9q31.2 | fukutin | 20301582[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 5 families | Worldwide | Family(ies) | Validated | 17878207[PMID]_19342235[PMID]_19179078[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_17878207[PMID]_19342235[PMID]_19179078[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
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/206554
- This record as JSON: /data/d/206554.json