MCID: ATS132
MIFTS: 26

Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1f

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

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

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

Name: Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1f 12 53 15
Lgmd1f 12 53
Muscular Dystrophy, Limb-Girdle, Type 1f 53
Muscular Dystrophy Limb-Girdle Type 1f 12
Limb-Girdle Muscular Dystrophy Type 1f 53

Classifications:



External Ids:

Disease Ontology 12 DOID:0110304
ICD10 33 G71.0

Summaries for Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1f

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

MalaCards based summary : Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1f, also known as lgmd1f, is related to muscular dystrophy and limb-girdle muscular dystrophy. An important gene associated with Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1f is TNPO3 (Transportin 3).

Related Diseases for Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1f

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 Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1f via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 31)
# Related Disease Score Top Affiliating Genes
1 muscular dystrophy 29.6 CAV3 DNAJB6 HNRNPDL MYOT SGCB TNPO3
2 limb-girdle muscular dystrophy 29.6 CAV3 DNAJB6 HNRNPDL MYOT SGCB TNPO3
3 muscular dystrophy, limb-girdle, autosomal dominant 2 11.6
4 autosomal recessive limb-girdle muscular dystrophy type 2w 10.1 HNRNPDL TNPO3
5 muscular dystrophy-dystroglycanopathy , type c, 9 10.1 HNRNPDL TNPO3
6 muscular dystrophy-dystroglycanopathy , type c, 14 10.0 HNRNPDL TNPO3
7 muscular dystrophy-dystroglycanopathy , type c, 1 10.0 HNRNPDL TNPO3
8 muscular dystrophy-dystroglycanopathy , type c, 7 10.0 HNRNPDL TNPO3
9 autosomal recessive limb-girdle muscular dystrophy type 2r 10.0 HNRNPDL TNPO3
10 muscular dystrophy-dystroglycanopathy , type c, 3 10.0 HNRNPDL TNPO3
11 muscular dystrophy-dystroglycanopathy , type c, 2 10.0 HNRNPDL TNPO3
12 autosomal dominant limb-girdle muscular dystrophy type 1a 10.0 CAV3 MYOT
13 myopathy, myofibrillar, 3 10.0 DNAJB6 MYOT
14 autosomal recessive limb-girdle muscular dystrophy type 2g 9.9 MYOT SGCB
15 autosomal recessive limb-girdle muscular dystrophy type 2j 9.9 MYOT SGCB
16 autosomal recessive limb-girdle muscular dystrophy type 2h 9.9 MYOT SGCB
17 miyoshi muscular dystrophy 9.9 CAV3 MYOT
18 myopathy, spheroid body 9.9 DNAJB6 MYOT
19 muscle tissue disease 9.9 CAV3 MYOT
20 autosomal recessive limb-girdle muscular dystrophy type 2b 9.8 CAV3 SGCB
21 myofibrillar myopathy 9.8 DNAJB6 MYOT
22 muscular dystrophy, limb-girdle, autosomal recessive 2 9.7 CAV3 MYOT SGCB
23 autosomal recessive limb-girdle muscular dystrophy type 2a 9.7 DNAJB6 MYOT SGCB
24 autosomal dominant limb-girdle muscular dystrophy 9.7 CAV3 DNAJB6 MYOT TNPO3
25 muscular dystrophy, limb-girdle, type 1h 9.7 DNAJB6 HNRNPDL MYOT TNPO3
26 autosomal recessive limb-girdle muscular dystrophy type 2q 9.7 DNAJB6 HNRNPDL MYOT TNPO3
27 autosomal dominant limb-girdle muscular dystrophy type 1g 9.7 DNAJB6 HNRNPDL MYOT TNPO3
28 autosomal dominant limb-girdle muscular dystrophy type 1b 9.7 CAV3 DNAJB6 HNRNPDL TNPO3
29 autosomal dominant limb-girdle muscular dystrophy type 1c 9.6 CAV3 DNAJB6 HNRNPDL TNPO3
30 muscular disease 9.5 CAV3 DNAJB6 MYOT SGCB
31 muscular dystrophy, limb-girdle, autosomal dominant 1 9.2 CAV3 DNAJB6 HNRNPDL MYOT SGCB TNPO3

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



Diseases related to Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1f

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

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

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

Genetic Tests for Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1f

Anatomical Context for Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1f

Publications for Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1f

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

# 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
3
No need for more muscle biopsies in members of the Spanish LGMD1F family. The gene has been identified at last. ( 23981253 )
2014
4
Ultrastructural changes in LGMD1F. ( 23279333 )
2013
5
Clinical phenotype, muscle MRI and muscle pathology of LGMD1F. ( 23632945 )
2013

Variations for Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1f

Expression for Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1f

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

Pathways for Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1f

GO Terms for Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1f

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

# Name GO ID Score Top Affiliating Genes
1 cytoplasm GO:0005737 9.73 CAV3 DNAJB6 HNRNPDL MYOT SGCB TNPO3
2 dystrophin-associated glycoprotein complex GO:0016010 9.16 CAV3 SGCB
3 Z disc GO:0030018 9.13 CAV3 DNAJB6 MYOT
4 sarcolemma GO:0042383 8.8 CAV3 MYOT SGCB

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

# Name GO ID Score Top Affiliating Genes
1 muscle contraction GO:0006936 9.16 CAV3 MYOT
2 muscle organ development GO:0007517 8.96 CAV3 SGCB
3 cardiac muscle cell development GO:0055013 8.62 CAV3 SGCB

Sources for Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1f

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
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