raremaprare-disease reference indexOrphadata 2026-06-23 · HPO 2026-09-01
ORPHA:363543

Autosomal recessive limb-girdle muscular dystrophy type 2R

inactive · moved to ORPHA:98909Desminopathy

Synonyms: Autosomal recessive limb-girdle muscular dystrophy due to desmin deficiency · LGMD2R

Type
Disease
Group
Disorder
Status
inactive
Flag
Deprecated entity

This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Desminopathy

1

Names in Orphadata languages

12 of 12 languages
LangNameSynonyms
enAutosomal recessive limb-girdle muscular dystrophy type 2RAutosomal recessive limb-girdle muscular dystrophy due to desmin deficiency · LGMD2R
frDystrophie musculaire des ceintures autosomique récessive type 2RDystrophie musculaire des ceintures autosomique récessive par déficit en desmine · LGMD2R
deGliedergürtelmuskeldystrophie, autosomal-rezessive, durch Desmin-MangelGliedergürtelmuskeldystrophie, autosomal-rezessive, Typ 2R · LGMD2R
esDistrofia muscular de cinturas autosómica recesiva por deficiencia de desminaDistrofia muscular de cinturas autosómica recesiva tipo 2R · LGMD2R
itDistrofia muscolare dei cingoli, autosomica recessiva, da deficit di desminaDistrofia muscolare dei cingoli, autosomica recessiva, tipo 2R · LGMD2R
nlAutosomaal recessieve limb-girdle-spierdystrofie type 2RAutosomaal recessieve bekken- en schoudergordel-spierdystrofie type 2R · Autosomaal recessieve ledemaatgordel-spierdystrofie type 2R · Autosomaal recessieve limb-girdle-spierdystrofie door desminedeficiëntie · LGMD2R
ptDistrofia muscular das cinturas dos membros autossómica recessiva tipo 2RDistrofia muscular das cinturas dos membros autossómica recessiva por deficiência de desmina
plAutosomalna recesywna dystrofia obręczowo-kończynowa z powodu niedoboru desminyAutosomalna recesywna dystrofia obręczowo-kończynowa typu 2R · LGMD2R
csAutozomálně recesivní pletencová svalová dystrofie, typ 2RLGMD2R · Autozomálně recesivní pletencová svalová dystrofie způsobená deficitem desminu
ukАвтосомно-рецесивна мязова дистрофія скелетних мязів кінцівок, тип 2RАутосомно-рецесивна мязова дистрофія мязів пояса кінцівок, спричинена дефіцитом десміну · LGMD2R
zh常染色体隐性肢带肌营养不良2R型LGMD2R
trOtozomal resesif ekstremite-kuşak kas distrofisi tip 2RDesmin eksikliğine bağlı otozomal çekinik ekstremite-kavşak tipi kas distrofisi · LGMD2R
2

Cross-references

qualifier = Orphanet mapping relation

No cross-references in this release.

3

Classification

Not placed in any Orphanet classification in this release.

No children.

4

Genes

0 direct

Orphanet records no gene directly on this code.

5

Prevalence and incidence

0 records

No prevalence record in this release.

6

HPO phenotypes

Orphanet has no HPO annotation for this code in this release.

7

Sources for this card