LGMD1F
MCID: MSC178
MIFTS: 28

Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2 (LGMD1F)

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

Aliases & Classifications for Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2

MalaCards integrated aliases for Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2:

Name: Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2 57
Muscular Dystrophy, Limb-Girdle, Type 1f 57 75 13
Lgmd1f 57 59 75
Limb-Girdle Muscular Dystrophy, Type 1f 29 6
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1f 59
Muscular Dystrophy, Limb-Girdle, Type 1f; Lgmd1f 57
Dystrophy, Muscular, Limb-Girdle, Type 1f 40
Limb-Girdle Muscular Dystrophy 1f 75
Lgmdd2 57

Characteristics:

Orphanet epidemiological data:

59
autosomal dominant limb-girdle muscular dystrophy type 1f
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent,Adult,Childhood,Infancy;

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
clinical variability
variable progression
some patients may become wheelchair-bound
juvenile-onset (before 15 years of age)
adult-onset in third to fourth decade
one large spanish family and 1 unrelated patient have been reported (last curated june 2014)


HPO:

32
muscular dystrophy, limb-girdle, autosomal dominant 2:
Onset and clinical course adult onset juvenile onset
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

OMIM 57 608423
Orphanet 59 ORPHA55595
UMLS via Orphanet 74 C1842062
ICD10 via Orphanet 34 G71.0
MedGen 42 C1842062
MeSH 44 D049288

Summaries for Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2

OMIM : 57 Autosomal dominant limb-girdle muscular dystrophy-2 is a myopathy characterized by proximal muscle weakness primarily affecting the lower limbs, but also affecting the upper limbs in most patients. Affected individuals also have distal muscle weakness of the hands and lower leg muscles. There is variability in presentation and progression. Some patients present in early childhood with mildly delayed walking and difficulty running and jumping, whereas others present as adults with mainly pelvic-girdle weakness. Patients with early onset tend to have a more severe disorder, and may develop contractures, loss of independent ambulation, and respiratory insufficiency. Muscle biopsy shows dystrophic changes with abnormal nuclei, rimmed vacuoles, and filamentous inclusions (summary by Melia et al., 2013). For a phenotypic description and a discussion of genetic heterogeneity of autosomal dominant limb-girdle muscular dystrophy, see LGMDD1 (603511). (608423)

MalaCards based summary : Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2, also known as muscular dystrophy, limb-girdle, type 1f, is related to autosomal dominant limb-girdle muscular dystrophy type 1f and muscular dystrophy. An important gene associated with Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2 is TNPO3 (Transportin 3). Affiliated tissues include skeletal muscle, and related phenotypes are flexion contracture and abnormality of metabolism/homeostasis

UniProtKB/Swiss-Prot : 75 Limb-girdle muscular dystrophy 1F: An autosomal dominant myopathy characterized by proximal muscle weakness primarily affecting the lower limbs, but also affecting the upper limbs in most patients. Affected individuals also have distal muscle weakness of the hands and lower leg muscles. The disease has generally a benign clinical course but some individuals with childhood or juvenile onset manifest severe widespread myopathy, leading to wheelchair dependency and respiratory insufficiency. Muscle biopsy shows dystrophic changes with abnormal nuclei, rimmed vacuoles, and filamentous inclusions.

Related Diseases for Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2

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 21 Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23 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 2r
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2w Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2x
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1a Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1b
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1c Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1f
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1g

Diseases related to Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 autosomal dominant limb-girdle muscular dystrophy type 1f 11.7
2 muscular dystrophy 10.4
3 limb-girdle muscular dystrophy 10.4

Symptoms & Phenotypes for Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2

Symptoms via clinical synopsis from OMIM:

57
Muscle Soft Tissue:
rimmed vacuoles
increased connective tissue
shoulder girdle muscle weakness
autophagic vacuoles
proximal and distal muscle atrophy
more
Respiratory:
respiratory insufficiency due to muscle weakness (in some patients)

Neurologic Central Nervous System:
delayed walking, mild (in some patients)
abnormal gait due to muscle weakness

Skeletal:
joint contractures (in some patients)

Skeletal Spine:
rigid spine (in some patients)

Laboratory Abnormalities:
serum creatine kinase may be normal or elevated


Clinical features from OMIM:

608423

Human phenotypes related to Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2:

32 (show all 16)
# Description HPO Frequency HPO Source Accession
1 flexion contracture 32 occasional (7.5%) HP:0001371
2 abnormality of metabolism/homeostasis 32 HP:0001939
3 respiratory insufficiency due to muscle weakness 32 occasional (7.5%) HP:0002747
4 pallor 32 HP:0000980
5 spinal rigidity 32 occasional (7.5%) HP:0003306
6 scapular winging 32 HP:0003691
7 rimmed vacuoles 32 HP:0003805
8 pelvic girdle muscle weakness 32 HP:0003749
9 muscular dystrophy 32 HP:0003560
10 increased connective tissue 32 HP:0009025
11 difficulty running 32 HP:0009046
12 centrally nucleated skeletal muscle fibers 32 HP:0003687
13 shoulder girdle muscle weakness 32 HP:0003547
14 autophagic vacuoles 32 HP:0003736
15 emg 32 HP:0003458
16 late-onset distal muscle weakness 32 HP:0003810

Drugs & Therapeutics for Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2

Search Clinical Trials , NIH Clinical Center for Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2

Genetic Tests for Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2

Genetic tests related to Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2:

# Genetic test Affiliating Genes
1 Limb-Girdle Muscular Dystrophy, Type 1f 29 TNPO3

Anatomical Context for Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2

MalaCards organs/tissues related to Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2:

41
Skeletal Muscle

Publications for Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2

Articles related to Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2:

# Title Authors Year
1
Incomplete penetrance in the spanish family with limb-girdle muscular dystrophy type 1F. ( 26351998 )
2015
2
Incomplete penetrance in limb-girdle muscular dystrophy type 1F. ( 25487718 )
2015

Variations for Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2

UniProtKB/Swiss-Prot genetic disease variations for Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2:

75
# Symbol AA change Variation ID SNP ID
1 TNPO3 p.Arg818Pro VAR_071822 rs587777431

ClinVar genetic disease variations for Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2:

6 (show top 50) (show all 74)
# Gene Variation Type Significance SNP ID Assembly Location
1 TNPO3 NM_012470.3(TNPO3): c.2771delA (p.Ter924Cysfs) deletion Pathogenic rs587777430 GRCh37 Chromosome 7, 128597310: 128597310
2 TNPO3 NM_012470.3(TNPO3): c.2771delA (p.Ter924Cysfs) deletion Pathogenic rs587777430 GRCh38 Chromosome 7, 128957256: 128957256
3 TNPO3 NM_012470.3(TNPO3): c.2453G> C (p.Arg818Pro) single nucleotide variant Pathogenic rs587777431 GRCh37 Chromosome 7, 128610347: 128610347
4 TNPO3 NM_012470.3(TNPO3): c.2453G> C (p.Arg818Pro) single nucleotide variant Pathogenic rs587777431 GRCh38 Chromosome 7, 128970293: 128970293
5 TNPO3 NM_012470.3(TNPO3): c.2326A> G (p.Ile776Val) single nucleotide variant Uncertain significance rs368873021 GRCh37 Chromosome 7, 128612584: 128612584
6 TNPO3 NM_012470.3(TNPO3): c.2326A> G (p.Ile776Val) single nucleotide variant Uncertain significance rs368873021 GRCh38 Chromosome 7, 128972530: 128972530
7 TNPO3 NM_012470.3(TNPO3): c.2280T> C (p.Ile760=) single nucleotide variant Benign/Likely benign rs142359170 GRCh38 Chromosome 7, 128972576: 128972576
8 TNPO3 NM_012470.3(TNPO3): c.2280T> C (p.Ile760=) single nucleotide variant Benign/Likely benign rs142359170 GRCh37 Chromosome 7, 128612630: 128612630
9 TNPO3 NM_012470.3(TNPO3): c.2741C> T (p.Ala914Val) single nucleotide variant Conflicting interpretations of pathogenicity rs61756249 GRCh37 Chromosome 7, 128597340: 128597340
10 TNPO3 NM_012470.3(TNPO3): c.2741C> T (p.Ala914Val) single nucleotide variant Conflicting interpretations of pathogenicity rs61756249 GRCh38 Chromosome 7, 128957286: 128957286
11 TNPO3 NM_012470.3(TNPO3): c.2652C> T (p.Thr884=) single nucleotide variant Benign/Likely benign rs149434536 GRCh37 Chromosome 7, 128607393: 128607393
12 TNPO3 NM_012470.3(TNPO3): c.2652C> T (p.Thr884=) single nucleotide variant Benign/Likely benign rs149434536 GRCh38 Chromosome 7, 128967339: 128967339
13 TNPO3 NM_012470.3(TNPO3): c.275C> T (p.Thr92Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs61756250 GRCh37 Chromosome 7, 128658057: 128658057
14 TNPO3 NM_012470.3(TNPO3): c.275C> T (p.Thr92Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs61756250 GRCh38 Chromosome 7, 129018003: 129018003
15 TNPO3 NM_012470.3(TNPO3): c.2625C> T (p.Ser875=) single nucleotide variant Conflicting interpretations of pathogenicity rs201210726 GRCh37 Chromosome 7, 128607420: 128607420
16 TNPO3 NM_012470.3(TNPO3): c.2625C> T (p.Ser875=) single nucleotide variant Conflicting interpretations of pathogenicity rs201210726 GRCh38 Chromosome 7, 128967366: 128967366
17 TNPO3 NM_012470.3(TNPO3): c.2274-10delT deletion Benign/Likely benign rs539653012 GRCh37 Chromosome 7, 128612646: 128612646
18 TNPO3 NM_012470.3(TNPO3): c.2274-10delT deletion Benign/Likely benign rs539653012 GRCh38 Chromosome 7, 128972592: 128972592
19 TNPO3 NM_012470.3(TNPO3): c.2599-6A> G single nucleotide variant Conflicting interpretations of pathogenicity rs374776250 GRCh37 Chromosome 7, 128607452: 128607452
20 TNPO3 NM_012470.3(TNPO3): c.2599-6A> G single nucleotide variant Conflicting interpretations of pathogenicity rs374776250 GRCh38 Chromosome 7, 128967398: 128967398
21 TNPO3 NM_012470.3(TNPO3): c.234C> T (p.Leu78=) single nucleotide variant Conflicting interpretations of pathogenicity rs142268279 GRCh37 Chromosome 7, 128658098: 128658098
22 TNPO3 NM_012470.3(TNPO3): c.234C> T (p.Leu78=) single nucleotide variant Conflicting interpretations of pathogenicity rs142268279 GRCh38 Chromosome 7, 129018044: 129018044
23 TNPO3 NM_012470.3(TNPO3): c.2431-6A> C single nucleotide variant Benign/Likely benign rs190759031 GRCh37 Chromosome 7, 128610375: 128610375
24 TNPO3 NM_012470.3(TNPO3): c.2431-6A> C single nucleotide variant Benign/Likely benign rs190759031 GRCh38 Chromosome 7, 128970321: 128970321
25 TNPO3 NM_012470.3(TNPO3): c.2154G> T (p.Arg718=) single nucleotide variant Benign rs35060568 GRCh37 Chromosome 7, 128615897: 128615897
26 TNPO3 NM_012470.3(TNPO3): c.2154G> T (p.Arg718=) single nucleotide variant Benign rs35060568 GRCh38 Chromosome 7, 128975843: 128975843
27 TNPO3 NM_012470.3(TNPO3): c.2186G> C (p.Cys729Ser) single nucleotide variant Uncertain significance rs757809379 GRCh37 Chromosome 7, 128615009: 128615009
28 TNPO3 NM_012470.3(TNPO3): c.2186G> C (p.Cys729Ser) single nucleotide variant Uncertain significance rs757809379 GRCh38 Chromosome 7, 128974955: 128974955
29 TNPO3 NM_012470.3(TNPO3): c.1927C> T (p.Pro643Ser) single nucleotide variant Uncertain significance GRCh37 Chromosome 7, 128619171: 128619171
30 TNPO3 NM_012470.3(TNPO3): c.1927C> T (p.Pro643Ser) single nucleotide variant Uncertain significance GRCh38 Chromosome 7, 128979117: 128979117
31 TNPO3 NM_012470.3(TNPO3): c.1409C> T (p.Pro470Leu) single nucleotide variant Uncertain significance rs137891112 GRCh37 Chromosome 7, 128630104: 128630104
32 TNPO3 NM_012470.3(TNPO3): c.1409C> T (p.Pro470Leu) single nucleotide variant Uncertain significance rs137891112 GRCh38 Chromosome 7, 128990050: 128990050
33 TNPO3 NM_012470.3(TNPO3): c.232C> G (p.Leu78Val) single nucleotide variant Uncertain significance GRCh37 Chromosome 7, 128658100: 128658100
34 TNPO3 NM_012470.3(TNPO3): c.232C> G (p.Leu78Val) single nucleotide variant Uncertain significance GRCh38 Chromosome 7, 129018046: 129018046
35 TNPO3 NM_012470.3(TNPO3): c.1410G> A (p.Pro470=) single nucleotide variant Uncertain significance rs747683065 GRCh37 Chromosome 7, 128630103: 128630103
36 TNPO3 NM_012470.3(TNPO3): c.1410G> A (p.Pro470=) single nucleotide variant Uncertain significance rs747683065 GRCh38 Chromosome 7, 128990049: 128990049
37 TNPO3 NM_012470.3(TNPO3): c.1256G> A (p.Cys419Tyr) single nucleotide variant Uncertain significance GRCh37 Chromosome 7, 128633871: 128633871
38 TNPO3 NM_012470.3(TNPO3): c.1256G> A (p.Cys419Tyr) single nucleotide variant Uncertain significance GRCh38 Chromosome 7, 128993817: 128993817
39 TNPO3 NM_012470.3(TNPO3): c.1873A> G (p.Ile625Val) single nucleotide variant Uncertain significance GRCh38 Chromosome 7, 128980018: 128980018
40 TNPO3 NM_012470.3(TNPO3): c.1873A> G (p.Ile625Val) single nucleotide variant Uncertain significance GRCh37 Chromosome 7, 128620072: 128620072
41 TNPO3 NM_012470.3(TNPO3): c.1256delGinsAA (p.Cys419Terfs) indel Uncertain significance GRCh38 Chromosome 7, 128993817: 128993817
42 TNPO3 NM_012470.3(TNPO3): c.1256delGinsAA (p.Cys419Terfs) indel Uncertain significance GRCh37 Chromosome 7, 128633871: 128633871
43 TNPO3 NM_012470.3(TNPO3): c.1241T> C (p.Ile414Thr) single nucleotide variant Uncertain significance GRCh38 Chromosome 7, 128993832: 128993832
44 TNPO3 NM_012470.3(TNPO3): c.1241T> C (p.Ile414Thr) single nucleotide variant Uncertain significance GRCh37 Chromosome 7, 128633886: 128633886
45 TNPO3 NM_012470.3(TNPO3): c.70C> T (p.Pro24Ser) single nucleotide variant Uncertain significance GRCh38 Chromosome 7, 129054701: 129054701
46 TNPO3 NM_012470.3(TNPO3): c.70C> T (p.Pro24Ser) single nucleotide variant Uncertain significance GRCh37 Chromosome 7, 128694755: 128694755
47 TNPO3 NM_012470.3(TNPO3): c.975G> C (p.Glu325Asp) single nucleotide variant Uncertain significance GRCh38 Chromosome 7, 129000465: 129000465
48 TNPO3 NM_012470.3(TNPO3): c.975G> C (p.Glu325Asp) single nucleotide variant Uncertain significance GRCh37 Chromosome 7, 128640519: 128640519
49 TNPO3 NM_012470.3(TNPO3): c.964C> T (p.Arg322Ter) single nucleotide variant Uncertain significance rs751304152 GRCh38 Chromosome 7, 129000476: 129000476
50 TNPO3 NM_012470.3(TNPO3): c.964C> T (p.Arg322Ter) single nucleotide variant Uncertain significance rs751304152 GRCh37 Chromosome 7, 128640530: 128640530

Expression for Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2

Search GEO for disease gene expression data for Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2.

Pathways for Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2

GO Terms for Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2

Sources for Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....