raremaprare-disease reference indexOrphadata 2026-06-23 · HPO 2026-09-01
ORPHA:34517

Autosomal dominant limb-girdle muscular dystrophy type 1E

inactive · moved to ORPHA:98909Desminopathy

Synonyms: LGMD1E

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 dominant limb-girdle muscular dystrophy type 1ELGMD1E
frDystrophie musculaire des ceintures autosomique dominante type 1E= en
deGliedergürtelmuskeldystrophie, autosomal-dominante, Typ 1E= en
esDistrofia muscular de cinturas autosómica dominante tipo 1E= en
itDistrofia muscolare dei cingoli, autosomica dominante, tipo 1E= en
nlAutosomaal dominante limb-girdle-spierdystrofie type 1EAutosomaal dominante bekken- en schoudergordel-spierdystrofie type 1E · Autosomaal dominante ledemaatgordel-spierdystrofie type 1E · LGMD1E
ptDistrofia muscular das cinturas dos membros autossómica dominante tipo 1E
plAutosomalna dominująca dystrofia obręczowo-kończynowa typu 1E= en
csAutozomálně dominantní pletencová svalová dystrofie, typ 1E= en
ukАутосомно-домінантна кінцівково-поясна м’язова дистрофія, тип 1Е= en
zh常染色体显性肢带肌营养不良症1E型= en
trOtozomal dominant ekstremite-kavşak tipi kas distrofisi tip 1E= en
2

Cross-references

qualifier = Orphanet mapping relation
SourceCodeQualifierICD relationValidation
UMLSC3148763Evalidated

E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.

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