raremaprare-disease reference indexOrphadata 2026-06-23 · HPO 2026-09-01
ORPHA:424261

TOR1AIP1-related limb-girdle muscular dystrophy

Synonyms: Autosomal recessive limb-girdle muscular dystrophy type 2Y · Autosomal recessive muscular dystrophy due to LAP1B deficiency · Autosomal recessive muscular dystrophy due to Torsin-1A-interacting protein 1 deficiency · LGMD type 2Y · LGMD2Y · Muscular dystrophy with progressive weakness, distal contractures and rigid spine · TOR1AIP1-related LGMD

Type
Disease
Group
Disorder
Inheritance
Autosomal recessive
Age of onset
Adolescent, Childhood
Status
active

A form of limb-girdle muscular dystrophy, presenting in the first or second decades of life, characterized by slowly progressive proximal and distal muscle weakness and atrophy. Additional manifestations include contractures of the proximal and distal interphalangeal hand joints, rigid spine, restricted pulmonary function, and mild cardiomyopathy.

1

Names in Orphadata languages

12 of 12 languages
LangNameSynonyms
enTOR1AIP1-related limb-girdle muscular dystrophyAutosomal recessive limb-girdle muscular dystrophy type 2Y · Autosomal recessive muscular dystrophy due to LAP1B deficiency · Autosomal recessive muscular dystrophy due to Torsin-1A-interacting protein 1 deficiency · LGMD type 2Y · LGMD2Y · Muscular dystrophy with progressive weakness, distal contractures and rigid spine · TOR1AIP1-related LGMD
frDystrophie musculaire des ceintures associée à TOR1AIP1Dystrophie musculaire des ceintures autosomique récessive avec une atrophie musculaire distale · Dystrophie musculaire des ceintures autosomique récessive par déficit en LAP1B · Dystrophie musculaire des ceintures autosomique récessive par déficit en Torsin-1A-interacting protein 1 · Dystrophie musculaire des ceintures autosomique récessive type 2Y · LGMD associée à TOR1AIP1 · LGMD type 2Y · LGMD2Y
deGliedergürtelmuskeldystrophie, autosomal-rezessive, Typ 2YLGMD2Y · Muskeldystrophie mit progressiver Schwäche, distalen Kontrakturen und starrer Wirbelsäule · Muskeldystrophie, autosomal-rezessive, durch LAP1B-Mangel · Muskeldystrophie, autosomal-rezessive, durch Torsion-1A-interagierendes Protein 1-Mangel
esDistrofia muscular de cinturas autosómica recesiva tipo 2YDistrofia muscular autosómica recesiva por deficiencia de LAP1B · Distrofia muscular autosómica recesiva por deficiencia de la proteína 1 de interacción torsina-1A · Distrofia muscular con debilidad progresiva, contracturas distales y columna vertebral rígida · LGMD2Y
itDistrofia muscolare dei cingoli autosomica recessiva, tipo 2YDistrofia muscolare autosomica recessiva da deficit di LAP1B · Distrofia muscolare autosomica recessiva da deficit di Tor1AIP1 · Distrofia muscolare con debolezza progressiva, contratture distali e rigidità della colonna vertebrale · LGMD2Y
nlAutosomaal recessieve limb-girdle-spierdystrofie type 2YAutosomaal recessieve bekken- en schoudergordel-spierdystrofie type 2Y · Autosomaal recessieve ledemaatgordel-spierdystrofie type 2Y · Autosomaal recessieve spierdystrofie door LAP1B-deficiëntie · Autosomaal recessieve spierdystrofie door Torsine-1A-interagerend proteïne 1-deficiëntie · LGMD type 2Y · LGMD2Y · Spierdystrofie met progressieve zwakte, distale contracturen en rigide wervelkolom · TOR1AIP1-gerelateerde LGMD
ptDistrofia muscular das cinturas dos membros TOR1AIP1-relacionadaDistrofia muscular com fraqueza progressiva, contracturas distais e coluna vertebral rígida
plAutosomalna recesywna dystrofia obręczowo-kończynowa typu 2YLGMD2Y · Autosomalna recesywna dystrofia mięśniowa z powodu niedoboru LAP1B · Dystrofia mięśniowa z postępującym osłabieniem, przykurczami dalszych części kończyn i sztywnym kręgosłupem · Autosomalna recesywna dystrofia mięśniowa z powodu niedoboru białka torsyny 1A
csAutozomálně recesivní pletencová svalová dystrofie, typ 2YAutozomálně recesivní svalová dystrofie způsobená deficitem LAP1B · Autozomálně recesivní svalová dystrofie způsobená deficitem Torsin-1A-interagujícího proteinu
ukTOR1AIP1-асоційована кінцівково-поясна мязова дистрофіяАутосомно-рецесивна мязова дистрофія мязів кінцівок, тип 2Y · Аутосомно-рецесивна мязова дистрофія внаслідок дефіциту LAP1B · Аутосомно-рецесивна мязова дистрофія, зумовлена дефіцитом білка 1, що взаємодіє з торсином-1А · LGMD тип 2Y · LGMD2Y · Мязова дистрофія з прогресуючою слабкістю, дистальними контрактурами та ригідним хребтом · LGMD, повязана з TOR1AIP1
zhTOR1AIP1相关肢带肌营养不良Torsin-1A反应蛋白1缺乏导致的常染色体隐性肌营养不良症
trTOR1AIP1 -ilişkili (lgmd) ekstremite kavşak tip kas distrofisiLGMD2Y · LGMD tip 2Y · TOR1AIP1-ilişkili LGMD · Otozomal Çekinik ekstremite-kavşak tipi kas distrofisi tip 2Y · LAP1B eksikliğine bağlı otozomal çekinik müsküler distrofi · İlerleyici güçsüzlük, distal kontraktürler ve sert omurga ile seyreden kas distrofisi · Torsin-1A ile etkileşen protein 1 eksikliğine bağlı otozomal çekinik kas distrofisi

Definition in:

2

Cross-references

qualifier = Orphanet mapping relation
SourceCodeQualifierICD relationValidation
OMIM617072Evalidated
ICD-10G71.0NTBTattributedvalidated
MONDO0014900Evalidated
UMLSC4511482Evalidated

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 (2):

No children.

4

Genes

1 direct
GeneAssociationStatusHGNCEnsemblOMIMLocusNameSource of validation
TOR1AIP1Disease-causing germline mutation(s) (loss of function) inAssessedHGNC:29456ENSG000001433376145121q25.2torsin 1A interacting protein 124856141[PMID]
5

Prevalence and incidence

2 records
TypeClassValueAreaQualificationValidationSource
Cases/families3 casesWorldwideCase(s)Validated24856141[PMID]
Point prevalence<1 / 1 000 000—WorldwideClass onlyValidatedORPHANET_24856141[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.

6

HPO phenotypes

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

7

Sources for this card