LGMDR26
MCID: MSC199
MIFTS: 16

Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26 (LGMDR26)

Categories: Genetic diseases, Metabolic diseases, Muscle diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26

MalaCards integrated aliases for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26:

Name: Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26 56 6
Lgmdr26 56

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
slowly progressive
adult onset (range teenage years to 40)
three unrelated consanguineous families have been reported (last curated april 2020)


Classifications:



External Ids:

OMIM 56 618848
OMIM Phenotypic Series 56 PS253600

Summaries for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26

OMIM : 56 Autosomal recessive limb-girdle muscular dystrophy-26 (LGMDR26) is a muscle disorder characterized by adult-onset weakness primarily affecting the proximal muscles of the lower limbs. The disorder is slowly progressive, with later involvement of the upper limbs and fatty replacement of muscle tissue apparent on MRI. Some patients may have calf hypertrophy. Serum creatine kinase is significantly elevated, and skeletal muscle biopsy shows typical dystrophic features with normal ultrastructural findings. There is no cardiac or respiratory involvement (summary by Vissing et al., 2019). For discussion of genetic heterogeneity of autosomal recessive limb- girdle muscular dystrophy, see LGMDR1 (253600). (618848)

MalaCards based summary : Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26, is also known as lgmdr26. An important gene associated with Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26 is POPDC3 (Popeye Domain Containing 3). Affiliated tissues include skeletal muscle.

Related Diseases for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26

Diseases in the Limb-Girdle Muscular Dystrophy family:

Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 6 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3 Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10 Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 12 Muscular Dystrophy, Limb-Girdle, Type 1h
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 17 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 21
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26 Autosomal Dominant Limb-Girdle Muscular Dystrophy
Autosomal Recessive Limb-Girdle Muscular Dystrophy Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2a
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2b Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2c
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2d Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2f
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2g Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2h
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2j Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2l
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2q Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2w
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2x Limb-Girdle Muscular Dystrophy Type 1a
Limb-Girdle Muscular Dystrophy Type 1b Limb-Girdle Muscular Dystrophy Type 1c
Pomgnt2-Related Limb-Girdle Muscular Dystrophy R24

Symptoms & Phenotypes for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26

Symptoms via clinical synopsis from OMIM:

56
Muscle Soft Tissue:
muscle atrophy
muscle weakness, proximal
calf hypertrophy
lower limbs involved first
upper limbs involved later
more
Cardiovascular Heart:
no cardiac involvement

Laboratory Abnormalities:
increased serum creatine kinase

Respiratory:
no respiratory insufficiency

Clinical features from OMIM:

618848

Drugs & Therapeutics for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26

Search Clinical Trials , NIH Clinical Center for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26

Genetic Tests for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26

Anatomical Context for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26

MalaCards organs/tissues related to Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26:

40
Skeletal Muscle

Publications for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26

Articles related to Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26:

# Title Authors PMID Year
1
POPDC3 Gene Variants Associate with a New Form of Limb Girdle Muscular Dystrophy. 56 6
31610034 2019

Variations for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26

ClinVar genetic disease variations for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26:

6 ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 POPDC3 NM_022361.5(POPDC3):c.782G>A (p.Arg261Gln)SNV Pathogenic 869186 6:105606439-105606439 6:105158564-105158564
2 POPDC3 NM_022361.5(POPDC3):c.464T>A (p.Leu155His)SNV Pathogenic 869187 6:105609321-105609321 6:105161446-105161446
3 POPDC3 NM_022361.5(POPDC3):c.651A>T (p.Leu217Phe)SNV Pathogenic 869188 6:105606570-105606570 6:105158695-105158695

Expression for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26

Search GEO for disease gene expression data for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26.

Pathways for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26

GO Terms for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26

Sources for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26

3 CDC
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11 DGIdb
17 EFO
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32 ICD10
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56 OMIM
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61 PubMed
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68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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