MCID: MSC057
MIFTS: 33

Muscular Dystrophy, Limb-Girdle, Type 1f

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

Aliases & Classifications for Muscular Dystrophy, Limb-Girdle, Type 1f

MalaCards integrated aliases for Muscular Dystrophy, Limb-Girdle, Type 1f:

Name: Muscular Dystrophy, Limb-Girdle, Type 1f 57 53 75 13 73
Lgmd1f 57 12 53 59 75
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1f 12 53 59 15
Limb-Girdle Muscular Dystrophy, Type 1f 29 6
Dystrophy, Muscular, Limb-Girdle, Type 1f 40
Muscular Dystrophy Limb-Girdle Type 1f 12
Limb-Girdle Muscular Dystrophy Type 1f 53
Limb-Girdle Muscular Dystrophy 1f 75

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, type 1f:
Onset and clinical course adult onset juvenile onset
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

OMIM 57 608423
Disease Ontology 12 DOID:0110304
ICD10 33 G71.0
Orphanet 59 ORPHA55595
UMLS via Orphanet 74 C1842062
ICD10 via Orphanet 34 G71.0
MedGen 42 C1842062
MeSH 44 D049288
UMLS 73 C1842062

Summaries for Muscular Dystrophy, Limb-Girdle, Type 1f

OMIM : 57 Limb-girdle muscular dystrophy type 1F is 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. 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 LGMD1A (159000). (608423)

MalaCards based summary : Muscular Dystrophy, Limb-Girdle, Type 1f, also known as lgmd1f, is related to limb-girdle muscular dystrophy and muscular dystrophy. An important gene associated with Muscular Dystrophy, Limb-Girdle, Type 1f is TNPO3 (Transportin 3). Affiliated tissues include skeletal muscle, and related phenotypes are flexion contracture and abnormality of metabolism/homeostasis

Disease Ontology : 12 An autosomal dominant limb-girdle muscular dystrophy that has material basis in heterozygous mutation in the TNPO3 gene on chromosome 7q32.

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, Type 1f

Diseases in the Limb-Girdle Muscular Dystrophy family:

Muscular Dystrophy, Limb-Girdle, Type 1a Muscular Dystrophy, Limb-Girdle, Type 1b
Muscular Dystrophy, Limb-Girdle, Type 2a Muscular Dystrophy, Limb-Girdle, Type 2b
Muscular Dystrophy, Limb-Girdle, Type 2c Muscular Dystrophy, Limb-Girdle, Type 2h
Muscular Dystrophy, Limb-Girdle, Type 2f Muscular Dystrophy, Limb-Girdle, Type 2g
Muscular Dystrophy, Limb-Girdle, Type 1e Muscular Dystrophy, Limb-Girdle, Type 1c
Muscular Dystrophy, Limb-Girdle, Type 2d Muscular Dystrophy, Limb-Girdle, Type 1f
Muscular Dystrophy, Limb-Girdle, Type 2j Limb-Girdle Muscular Dystrophy, Type 1g
Muscular Dystrophy, Limb-Girdle, Type 2l Muscular Dystrophy, Limb-Girdle, Type 1h
Muscular Dystrophy, Limb-Girdle, Type 2q Muscular Dystrophy, Limb-Girdle, Type 2r
Muscular Dystrophy, Limb-Girdle, Type 2x Muscular Dystrophy, Limb-Girdle, Type 2w
Muscular Dystrophy, Limb-Girdle, Type 2z Autosomal Dominant Limb-Girdle Muscular Dystrophy
Autosomal Recessive Limb-Girdle Muscular Dystrophy Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2b
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2e Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2f
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2h Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1c
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1g

Diseases related to Muscular Dystrophy, Limb-Girdle, Type 1f via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 27)
# Related Disease Score Top Affiliating Genes
1 limb-girdle muscular dystrophy 26.5 CAV3 DNAJB6 HNRNPDL MYOT TNPO3 TRAPPC11
2 muscular dystrophy 26.4 CAV3 DNAJB6 HNRNPDL MYOT TNPO3 TRAPPC11
3 muscular dystrophy, limb-girdle, type 1a 10.0 CAV3 MYOT
4 muscular dystrophy, limb-girdle, type 2b 9.9 CAV3 MYOT
5 myopathy, myofibrillar, 3 9.9 DNAJB6 MYOT
6 distal muscular dystrophy 9.9 CAV3 MYOT
7 myopathy, spheroid body 9.8 DNAJB6 MYOT
8 myofibrillar myopathy 9.7 DNAJB6 MYOT
9 muscle tissue disease 9.7 CAV3 MYOT
10 muscular dystrophy-dystroglycanopathy , type c, 4 9.6 HNRNPDL TRAPPC11
11 autosomal recessive limb-girdle muscular dystrophy type 2e 9.6 HNRNPDL TRAPPC11
12 muscular dystrophy-dystroglycanopathy , type c, 9 9.2 HNRNPDL TNPO3 TRAPPC11
13 muscular dystrophy, limb-girdle, type 2w 9.2 HNRNPDL TNPO3 TRAPPC11
14 muscular dystrophy, limb-girdle, type 2r 9.2 HNRNPDL TNPO3 TRAPPC11
15 muscular dystrophy-dystroglycanopathy , type c, 14 9.2 HNRNPDL TNPO3 TRAPPC11
16 muscular dystrophy-dystroglycanopathy , type c, 7 9.2 HNRNPDL TNPO3 TRAPPC11
17 muscular dystrophy-dystroglycanopathy , type c, 3 9.2 HNRNPDL TNPO3 TRAPPC11
18 muscular dystrophy-dystroglycanopathy , type c, 1 9.2 HNRNPDL TNPO3 TRAPPC11
19 muscular dystrophy-dystroglycanopathy , type c, 2 9.2 HNRNPDL TNPO3 TRAPPC11
20 muscular dystrophy, limb-girdle, type 1h 9.0 DNAJB6 HNRNPDL MYOT TNPO3
21 autosomal dominant limb-girdle muscular dystrophy 9.0 CAV3 DNAJB6 MYOT TNPO3
22 muscular dystrophy, limb-girdle, type 1b 8.9 CAV3 DNAJB6 HNRNPDL TNPO3
23 myopathy 8.7 CAV3 DNAJB6 MYOT
24 muscular dystrophy, limb-girdle, type 2q 8.5 DNAJB6 HNRNPDL TNPO3 TRAPPC11
25 autosomal dominant limb-girdle muscular dystrophy type 1c 8.4 CAV3 DNAJB6 HNRNPDL MYOT TNPO3
26 autosomal dominant limb-girdle muscular dystrophy type 1g 8.0 DNAJB6 HNRNPDL MYOT TNPO3 TRAPPC11
27 muscular dystrophy, limb-girdle, type 1e 7.4 CAV3 DNAJB6 HNRNPDL MYOT TNPO3 TRAPPC11

Graphical network of the top 20 diseases related to Muscular Dystrophy, Limb-Girdle, Type 1f:



Diseases related to Muscular Dystrophy, Limb-Girdle, Type 1f

Symptoms & Phenotypes for Muscular Dystrophy, Limb-Girdle, Type 1f

Symptoms via clinical synopsis from OMIM:

57
Muscle Soft Tissue:
increased connective tissue
rimmed vacuoles
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, Type 1f:

32 (show all 14)
# 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 scapular winging 32 HP:0003691
5 spinal rigidity 32 occasional (7.5%) HP:0003306
6 muscular dystrophy 32 HP:0003560
7 increased connective tissue 32 HP:0009025
8 rimmed vacuoles 32 HP:0003805
9 centrally nucleated skeletal muscle fibers 32 HP:0003687
10 pelvic girdle muscle weakness 32 HP:0003749
11 shoulder girdle muscle weakness 32 HP:0003547
12 autophagic vacuoles 32 HP:0003736
13 emg 32 HP:0003458
14 late-onset distal muscle weakness 32 HP:0003810

Drugs & Therapeutics for Muscular Dystrophy, Limb-Girdle, Type 1f

Search Clinical Trials , NIH Clinical Center for Muscular Dystrophy, Limb-Girdle, Type 1f

Genetic Tests for Muscular Dystrophy, Limb-Girdle, Type 1f

Genetic tests related to Muscular Dystrophy, Limb-Girdle, Type 1f:

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

Anatomical Context for Muscular Dystrophy, Limb-Girdle, Type 1f

MalaCards organs/tissues related to Muscular Dystrophy, Limb-Girdle, Type 1f:

41
Skeletal Muscle

Publications for Muscular Dystrophy, Limb-Girdle, Type 1f

Articles related to Muscular Dystrophy, Limb-Girdle, Type 1f:

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

Variations for Muscular Dystrophy, Limb-Girdle, Type 1f

UniProtKB/Swiss-Prot genetic disease variations for Muscular Dystrophy, Limb-Girdle, Type 1f:

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

ClinVar genetic disease variations for Muscular Dystrophy, Limb-Girdle, Type 1f:

6
(show top 50) (show all 68)
# 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 GRCh38 Chromosome 7, 129018046: 129018046
34 TNPO3 NM_012470.3(TNPO3): c.232C> G (p.Leu78Val) single nucleotide variant Uncertain significance GRCh37 Chromosome 7, 128658100: 128658100
35 TNPO3 NM_012470.3(TNPO3): c.1410G> A (p.Pro470=) single nucleotide variant Uncertain significance rs747683065 GRCh38 Chromosome 7, 128990049: 128990049
36 TNPO3 NM_012470.3(TNPO3): c.1410G> A (p.Pro470=) single nucleotide variant Uncertain significance rs747683065 GRCh37 Chromosome 7, 128630103: 128630103
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 GRCh37 Chromosome 7, 128633871: 128633871
42 TNPO3 NM_012470.3(TNPO3): c.1256delGinsAA (p.Cys419Terfs) indel Uncertain significance GRCh38 Chromosome 7, 128993817: 128993817
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 GRCh37 Chromosome 7, 128694755: 128694755
46 TNPO3 NM_012470.3(TNPO3): c.70C> T (p.Pro24Ser) single nucleotide variant Uncertain significance GRCh38 Chromosome 7, 129054701: 129054701
47 TNPO3 NM_012470.3(TNPO3): c.964C> T (p.Arg322Ter) single nucleotide variant Uncertain significance rs751304152 GRCh37 Chromosome 7, 128640530: 128640530
48 TNPO3 NM_012470.3(TNPO3): c.964C> T (p.Arg322Ter) single nucleotide variant Uncertain significance rs751304152 GRCh38 Chromosome 7, 129000476: 129000476
49 TNPO3 NM_012470.3(TNPO3): c.1521G> T (p.Met507Ile) single nucleotide variant Uncertain significance GRCh37 Chromosome 7, 128626952: 128626952
50 TNPO3 NM_012470.3(TNPO3): c.1521G> T (p.Met507Ile) single nucleotide variant Uncertain significance GRCh38 Chromosome 7, 128986898: 128986898

Expression for Muscular Dystrophy, Limb-Girdle, Type 1f

Search GEO for disease gene expression data for Muscular Dystrophy, Limb-Girdle, Type 1f.

Pathways for Muscular Dystrophy, Limb-Girdle, Type 1f

GO Terms for Muscular Dystrophy, Limb-Girdle, Type 1f

Cellular components related to Muscular Dystrophy, Limb-Girdle, Type 1f according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 sarcolemma GO:0042383 8.96 CAV3 MYOT
2 Z disc GO:0030018 8.8 CAV3 DNAJB6 MYOT

Biological processes related to Muscular Dystrophy, Limb-Girdle, Type 1f according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 muscle contraction GO:0006936 8.62 CAV3 MYOT

Sources for Muscular Dystrophy, Limb-Girdle, Type 1f

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