LGMDD2
MCID: MSC178
MIFTS: 46

Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2 (LGMDD2)

Categories: Genetic diseases, Metabolic diseases, Muscle diseases, Neuronal diseases, Rare diseases, Respiratory 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 72
Muscular Dystrophy, Limb-Girdle, Type 1f 57 20 72 13 70
Lgmd1f 57 12 20 58 72
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1f 12 20 58
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 2 12 15
Tnp03-Related Limb-Girdle Muscular Dystrophy D2 20 58
Limb-Girdle Muscular Dystrophy, Type 1f 29 6
Limb-Girdle Muscular Dystrophy Type 1f 20 58
Tnp03-Related Lgmd D2 20 58
Lgmd Type 1f 20 58
Lgmdd2 57 72
Muscular Dystrophy, Limb-Girdle, Type 1f; Lgmd1f 57
Dystrophy, Muscular, Limb-Girdle, Type 1f 39
Muscular Dystrophy Limb-Girdle Type 1f 12
Limb-Girdle Muscular Dystrophy 1f 72

Characteristics:

Orphanet epidemiological data:

58
tnp03-related limb-girdle muscular dystrophy d2
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent,Adult,Childhood,Infancy;

OMIM®:

57 (Updated 20-May-2021)
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:

31
muscular dystrophy, limb-girdle, autosomal dominant 2:
Inheritance autosomal dominant inheritance
Onset and clinical course juvenile onset adult onset


Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0110304
OMIM® 57 608423
OMIM Phenotypic Series 57 PS603511
MeSH 44 D049288
ICD10 32 G71.0
ICD10 via Orphanet 33 G71.0
UMLS via Orphanet 71 C1842062
Orphanet 58 ORPHA55595
MedGen 41 C1842062
UMLS 70 C1842062

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) (Updated 20-May-2021)

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 and limb-girdle muscular dystrophy type 1a. An important gene associated with Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2 is TNPO3 (Transportin 3), and among its related pathways/superpathways are Dilated cardiomyopathy and Arrhythmogenic right ventricular cardiomyopathy. Affiliated tissues include skeletal muscle and heart, and related phenotypes are flexion contracture and spinal rigidity

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 : 72 Muscular dystrophy, limb-girdle, autosomal dominant 2: 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 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 Recessive Limb-Girdle Muscular Dystrophy Type 2z
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

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

(show top 50) (show all 88)
# Related Disease Score Top Affiliating Genes
1 autosomal dominant limb-girdle muscular dystrophy 29.3 TNPO3 TCAP MYOT LMNA DNAJB6 CAV3
2 limb-girdle muscular dystrophy type 1a 28.7 TCAP MYOT FKRP DYSF CAV3 CAPN3
3 limb-girdle muscular dystrophy 27.4 TCAP SGCG SGCD SGCB MYOT LMNA
4 muscular dystrophy 26.8 TNPO3 TCAP SGCG SGCD SGCB MYOT
5 myopathy 26.5 TNPO3 TCAP SGCG SGCD SGCB MYOT
6 progressive muscular dystrophy 10.3
7 myopathy, myofibrillar, 2 10.2 MYOT DNAJB6
8 muscular dystrophy-dystroglycanopathy , type c, 9 10.2 SGCB MYOT
9 myopathy, spheroid body 10.1 TCAP MYOT
10 progressive muscular atrophy 10.1 CAV3 CAPN3
11 myopathy, myofibrillar, 4 10.1 TCAP MYOT
12 limb-girdle muscular dystrophy type 1b 10.1 LMNA CAV3
13 autosomal recessive limb-girdle muscular dystrophy type 2w 10.1 TNPO3 SGCB MYOT
14 myopathy, x-linked, with postural muscle atrophy 10.1 MYOT LMNA
15 paresthesia 10.1 FKRP CAPN3
16 cardiomyopathy, dilated, 1l 10.1 SGCD SGCB
17 foot drop 10.1 MYOT DYSF
18 muscular dystrophy-dystroglycanopathy , type c, 2 10.1 FKRP CAPN3
19 muscular dystrophy, limb-girdle, autosomal recessive 1 10.1 SGCB CAPN3
20 rippling muscle disease 2 10.0 DYSF CAV3
21 dysferlinopathy 10.0 DYSF CAPN3
22 miyoshi muscular dystrophy 3 10.0 DYSF CAPN3
23 polyglucosan body myopathy 1 with or without immunodeficiency 10.0 FKRP CAPN3
24 muscular dystrophy, limb-girdle, type 1h 10.0 TNPO3 MYOT DNAJB6 CAV3
25 muscular dystrophy, limb-girdle, autosomal dominant 3 10.0 TNPO3 MYOT DNAJB6 CAV3
26 creatine phosphokinase, elevated serum 10.0 TCAP CAV3 CAPN3
27 autosomal recessive limb-girdle muscular dystrophy type 2x 9.9 MYOT DYSF CAV3
28 dysphagia 9.9
29 glycogen storage disease ii 9.9 FKRP CAV3 CAPN3
30 myopathy, centronuclear, 1 9.9 MYOT DYSF DNAJB6
31 autosomal recessive limb-girdle muscular dystrophy type 2q 9.9 TNPO3 TCAP MYOT DNAJB6
32 heart conduction disease 9.8 LMNA CAV3 CAPN3
33 cardiomyopathy, dilated, 3b 9.8 SGCD SGCB DYSF
34 muscular atrophy 9.8 LMNA CAV3 CAPN3
35 myopathy, myofibrillar, 9, with early respiratory failure 9.8 TCAP MYOT DNAJB6 CAPN3
36 muscular dystrophy-dystroglycanopathy 9.8 SGCB FKRP DYSF
37 limb-girdle muscular dystrophy type 1c 9.8 FKRP DYSF CAV3
38 myopathy, myofibrillar, 1 9.8 MYOT LMNA DNAJB6 CAPN3
39 congenital fiber-type disproportion 9.8 MYOT LMNA DYSF
40 cardiomyopathy, dilated, 1a 9.8 MYOT LMNA
41 atrial standstill 1 9.8 MYOT LMNA FKRP
42 muscular dystrophy, duchenne type 9.7 TCAP SGCD SGCB CAV3
43 left ventricular noncompaction 9.7 TCAP MYOT LMNA
44 cardiomyopathy, familial hypertrophic, 1 9.7 TCAP LMNA CAV3
45 brugada syndrome 9.7 TCAP LMNA CAV3
46 intrinsic cardiomyopathy 9.7 TCAP SGCD LMNA CAV3
47 muscular dystrophy-dystroglycanopathy , type c, 4 9.6 MYOT FKRP DYSF CAPN3
48 muscular dystrophy-dystroglycanopathy , type c, 3 9.6 SGCG FKRP
49 muscular dystrophy, limb-girdle, autosomal recessive 8 9.5 TCAP FKRP DYSF CAPN3
50 myopathy, myofibrillar, 3 9.5 TCAP MYOT DYSF DNAJB6 CAPN3

Graphical network of the top 20 diseases related to Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2:



Diseases related to Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2

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

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

31 (show all 17)
# Description HPO Frequency HPO Source Accession
1 flexion contracture 31 occasional (7.5%) HP:0001371
2 spinal rigidity 31 occasional (7.5%) HP:0003306
3 respiratory insufficiency due to muscle weakness 31 occasional (7.5%) HP:0002747
4 delayed ability to walk 31 very rare (1%) HP:0031936
5 pallor 31 HP:0000980
6 emg: myopathic abnormalities 31 HP:0003458
7 scapular winging 31 HP:0003691
8 rimmed vacuoles 31 HP:0003805
9 pelvic girdle muscle weakness 31 HP:0003749
10 abnormality of metabolism/homeostasis 31 HP:0001939
11 muscular dystrophy 31 HP:0003560
12 autophagic vacuoles 31 HP:0003736
13 increased connective tissue 31 HP:0009025
14 shoulder girdle muscle weakness 31 HP:0003547
15 centrally nucleated skeletal muscle fibers 31 HP:0003687
16 difficulty running 31 HP:0009046
17 late-onset distal muscle weakness 31 HP:0003810

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Chest Ribs Sternum Clavicles And Scapulae:
scapular winging

Skeletal:
joint contractures (in some patients)

Skeletal Spine:
rigid spine (in some patients)

Laboratory Abnormalities:
serum creatine kinase may be normal or elevated

Muscle Soft Tissue:
rimmed vacuoles
autophagic vacuoles
increased connective tissue
shoulder girdle muscle weakness
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

Clinical features from OMIM®:

608423 (Updated 20-May-2021)

MGI Mouse Phenotypes related to Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.56 CAPN3 CAV3 FKRP LMNA SGCB SGCD
2 muscle MP:0005369 9.28 CAPN3 CAV3 DYSF FKRP LMNA SGCB

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:

40
Skeletal Muscle, Heart

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

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

(show all 17)
# Title Authors PMID Year
1
Next-generation sequencing identifies transportin 3 as the causative gene for LGMD1F. 57 6 61
23667635 2013
2
Limb-girdle muscular dystrophy 1F is caused by a microdeletion in the transportin 3 gene. 57 6
23543484 2013
3
Autosomal dominant limb-girdle muscular dystrophy: a large kindred with evidence for anticipation. 6 57
11222786 2001
4
A novel pathogenic variant in TNPO3 in a Hungarian family with limb-girdle muscular dystrophy 1F. 6 61
31071488 2019
5
A new family with transportinopathy: increased clinical heterogeneity. 6
31217819 2019
6
229th ENMC international workshop: Limb girdle muscular dystrophies - Nomenclature and reformed classification Naarden, the Netherlands, 17-19 March 2017. 57
30055862 2018
7
A novel autosomal dominant limb-girdle muscular dystrophy (LGMD 1F) maps to 7q32.1-32.2. 57
12913210 2003
8
[The TNPO3 mutation that causes LGMD1F induces protection against HIV-1 infection]. 61
31859632 2019
9
The mutation of Transportin 3 gene that causes limb girdle muscular dystrophy 1F induces protection against HIV-1 infection. 61
31465518 2019
10
Novel mutation in TNPO3 causes congenital limb-girdle myopathy with slow progression. 61
31192305 2019
11
Long term follow-up and further molecular and histopathological studies in the LGMD1F sporadic TNPO3-mutated patient. 61
30567601 2018
12
A defect in the RNA-processing protein HNRPDL causes limb-girdle muscular dystrophy 1G (LGMD1G). 61
24647604 2014
13
Genetic basis of limb-girdle muscular dystrophies: the 2014 update. 61
24843229 2014
14
No need for more muscle biopsies in members of the Spanish LGMD1F family. The gene has been identified at last. 61
23981253 2014
15
Clinical phenotype, muscle MRI and muscle pathology of LGMD1F. 61
23632945 2013
16
Ultrastructural changes in LGMD1F. 61
23279333 2013
17
[Limb girdle muscular dystrophies]. 61
15316618 2004

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

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

6 (show top 50) (show all 105)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 TNPO3 NM_012470.3(TNPO3):c.2771del (p.Ter924CysextTer?) Deletion Pathogenic 135660 rs587777430 GRCh37: 7:128597310-128597310
GRCh38: 7:128957256-128957256
2 TNPO3 NM_012470.3(TNPO3):c.2453G>C (p.Arg818Pro) SNV Pathogenic 135661 rs587777431 GRCh37: 7:128610347-128610347
GRCh38: 7:128970293-128970293
3 TNPO3 NM_012470.3(TNPO3):c.2767del (p.Arg923fs) Deletion Likely pathogenic 591000 rs1563083759 GRCh37: 7:128597314-128597314
GRCh38: 7:128957260-128957260
4 TNPO3 NM_012470.3(TNPO3):c.1334C>T (p.Ala445Val) SNV Likely pathogenic 802367 rs1585339231 GRCh37: 7:128632077-128632077
GRCh38: 7:128992023-128992023
5 TNPO3 NM_012470.4(TNPO3):c.1424C>T (p.Thr475Met) SNV Uncertain significance 935994 GRCh37: 7:128630089-128630089
GRCh38: 7:128990035-128990035
6 TNPO3 NM_012470.3(TNPO3):c.2186G>C (p.Cys729Ser) SNV Uncertain significance 464848 rs757809379 GRCh37: 7:128615009-128615009
GRCh38: 7:128974955-128974955
7 TNPO3 NM_012470.3(TNPO3):c.1417G>A (p.Val473Ile) SNV Uncertain significance 533435 rs150330408 GRCh37: 7:128630096-128630096
GRCh38: 7:128990042-128990042
8 TNPO3 NM_012470.3(TNPO3):c.996C>T (p.Gly332=) SNV Uncertain significance 533436 rs1554439603 GRCh37: 7:128640498-128640498
GRCh38: 7:129000444-129000444
9 TNPO3 NM_012470.3(TNPO3):c.28C>T (p.Leu10Phe) SNV Uncertain significance 533438 rs1554445896 GRCh37: 7:128694797-128694797
GRCh38: 7:129054743-129054743
10 TNPO3 NM_012470.3(TNPO3):c.1521G>T (p.Met507Ile) SNV Uncertain significance 533439 rs1554437833 GRCh37: 7:128626952-128626952
GRCh38: 7:128986898-128986898
11 TNPO3 NM_012470.3(TNPO3):c.2426A>G (p.Asn809Ser) SNV Uncertain significance 566284 rs1002747651 GRCh37: 7:128612484-128612484
GRCh38: 7:128972430-128972430
12 TNPO3 NM_012470.3(TNPO3):c.1358+1G>A SNV Uncertain significance 575950 rs769542368 GRCh37: 7:128632052-128632052
GRCh38: 7:128991998-128991998
13 TNPO3 NM_012470.3(TNPO3):c.975G>C (p.Glu325Asp) SNV Uncertain significance 497830 rs1415790123 GRCh37: 7:128640519-128640519
GRCh38: 7:129000465-129000465
14 TNPO3 NM_012470.3(TNPO3):c.1782G>A (p.Lys594=) SNV Uncertain significance 290149 rs886044359 GRCh37: 7:128624222-128624222
GRCh38: 7:128984168-128984168
15 TNPO3 NM_012470.3(TNPO3):c.1453G>A (p.Val485Ile) SNV Uncertain significance 595163 rs751986019 GRCh37: 7:128630060-128630060
GRCh38: 7:128990006-128990006
16 TNPO3 NM_012470.3(TNPO3):c.1410G>A (p.Pro470=) SNV Uncertain significance 464845 rs747683065 GRCh37: 7:128630103-128630103
GRCh38: 7:128990049-128990049
17 TNPO3 NM_012470.3(TNPO3):c.1256G>A (p.Cys419Tyr) SNV Uncertain significance 464843 rs1554438680 GRCh37: 7:128633871-128633871
GRCh38: 7:128993817-128993817
18 TNPO3 NM_012470.3(TNPO3):c.1873A>G (p.Ile625Val) SNV Uncertain significance 464846 rs1480719788 GRCh37: 7:128620072-128620072
GRCh38: 7:128980018-128980018
19 TNPO3 NM_012470.3(TNPO3):c.70C>T (p.Pro24Ser) SNV Uncertain significance 464850 rs1408084010 GRCh37: 7:128694755-128694755
GRCh38: 7:129054701-129054701
20 TNPO3 NM_012470.3(TNPO3):c.1241T>C (p.Ile414Thr) SNV Uncertain significance 464841 rs1554438690 GRCh37: 7:128633886-128633886
GRCh38: 7:128993832-128993832
21 TNPO3 NM_012470.3(TNPO3):c.1927C>T (p.Pro643Ser) SNV Uncertain significance 464847 rs1400881026 GRCh37: 7:128619171-128619171
GRCh38: 7:128979117-128979117
22 TNPO3 NM_012470.3(TNPO3):c.2152C>T (p.Arg718Trp) SNV Uncertain significance 533434 rs771596630 GRCh37: 7:128615899-128615899
GRCh38: 7:128975845-128975845
23 TNPO3 NM_012470.3(TNPO3):c.1712G>A (p.Arg571Gln) SNV Uncertain significance 642252 rs376932742 GRCh37: 7:128624292-128624292
GRCh38: 7:128984238-128984238
24 TNPO3 NM_012470.3(TNPO3):c.608G>A (p.Arg203His) SNV Uncertain significance 647236 rs977205285 GRCh37: 7:128645158-128645158
GRCh38: 7:129005104-129005104
25 TNPO3 NM_012470.3(TNPO3):c.1216C>G (p.Leu406Val) SNV Uncertain significance 648298 rs1585340363 GRCh37: 7:128633911-128633911
GRCh38: 7:128993857-128993857
26 TNPO3 NM_012470.3(TNPO3):c.317C>T (p.Thr106Met) SNV Uncertain significance 661166 rs770038958 GRCh37: 7:128658015-128658015
GRCh38: 7:129017961-129017961
27 TNPO3 NM_012470.3(TNPO3):c.2590G>A (p.Asp864Asn) SNV Uncertain significance 665549 rs1585324543 GRCh37: 7:128610210-128610210
GRCh38: 7:128970156-128970156
28 TNPO3 NM_012470.3(TNPO3):c.1402C>T (p.Arg468Cys) SNV Uncertain significance 533433 rs781140128 GRCh37: 7:128630111-128630111
GRCh38: 7:128990057-128990057
29 TNPO3 NM_012470.3(TNPO3):c.1636C>T (p.Arg546Cys) SNV Uncertain significance 284684 rs148210365 GRCh37: 7:128626837-128626837
GRCh38: 7:128986783-128986783
30 TNPO3 NM_012470.4(TNPO3):c.552+6T>A SNV Uncertain significance 935488 GRCh37: 7:128655027-128655027
GRCh38: 7:129014973-129014973
31 TNPO3 NM_012470.4(TNPO3):c.2598G>A (p.Pro866=) SNV Uncertain significance 939345 GRCh37: 7:128610202-128610202
GRCh38: 7:128970148-128970148
32 TNPO3 NM_012470.4(TNPO3):c.64C>G (p.Pro22Ala) SNV Uncertain significance 958651 GRCh37: 7:128694761-128694761
GRCh38: 7:129054707-129054707
33 TNPO3 NM_012470.3(TNPO3):c.1961C>T (p.Ala654Val) SNV Uncertain significance 290592 rs760634627 GRCh37: 7:128619137-128619137
GRCh38: 7:128979083-128979083
34 TNPO3 NM_012470.4(TNPO3):c.250G>A (p.Ala84Thr) SNV Uncertain significance 972526 GRCh37: 7:128658082-128658082
GRCh38: 7:129018028-129018028
35 TNPO3 NM_012470.4(TNPO3):c.856C>T (p.Arg286Cys) SNV Uncertain significance 999931 GRCh37: 7:128641129-128641129
GRCh38: 7:129001075-129001075
36 TNPO3 NM_012470.4(TNPO3):c.2539C>G (p.Pro847Ala) SNV Uncertain significance 1001950 GRCh37: 7:128610261-128610261
GRCh38: 7:128970207-128970207
37 TNPO3 NM_012470.4(TNPO3):c.104G>A (p.Gly35Glu) SNV Uncertain significance 1005020 GRCh37: 7:128694721-128694721
GRCh38: 7:129054667-129054667
38 TNPO3 NM_012470.4(TNPO3):c.2666C>G (p.Thr889Arg) SNV Uncertain significance 1008848 GRCh37: 7:128607379-128607379
GRCh38: 7:128967325-128967325
39 TNPO3 NM_012470.3(TNPO3):c.1367A>G (p.Asn456Ser) SNV Uncertain significance 285167 rs371704560 GRCh37: 7:128630146-128630146
GRCh38: 7:128990092-128990092
40 TNPO3 NM_012470.4(TNPO3):c.2212C>G (p.Gln738Glu) SNV Uncertain significance 1010592 GRCh37: 7:128614983-128614983
GRCh38: 7:128974929-128974929
41 TNPO3 NM_012470.3(TNPO3):c.2674C>A (p.His892Asn) SNV Uncertain significance 836846 GRCh37: 7:128607371-128607371
GRCh38: 7:128967317-128967317
42 TNPO3 NM_012470.3(TNPO3):c.2519C>A (p.Thr840Asn) SNV Uncertain significance 850974 GRCh37: 7:128610281-128610281
GRCh38: 7:128970227-128970227
43 TNPO3 NM_012470.3(TNPO3):c.1810A>G (p.Ile604Val) SNV Uncertain significance 286472 rs886043402 GRCh37: 7:128622351-128622351
GRCh38: 7:128982297-128982297
44 TNPO3 NM_012470.4(TNPO3):c.1270T>A (p.Tyr424Asn) SNV Uncertain significance 939951 GRCh37: 7:128632141-128632141
GRCh38: 7:128992087-128992087
45 TNPO3 NM_012470.4(TNPO3):c.1933T>G (p.Leu645Val) SNV Uncertain significance 958419 GRCh37: 7:128619165-128619165
GRCh38: 7:128979111-128979111
46 TNPO3 NM_012470.4(TNPO3):c.2007dup (p.Val670fs) Duplication Uncertain significance 965236 GRCh37: 7:128619090-128619091
GRCh38: 7:128979036-128979037
47 TNPO3 NM_012470.4(TNPO3):c.1640C>G (p.Ser547Cys) SNV Uncertain significance 966736 GRCh37: 7:128626833-128626833
GRCh38: 7:128986779-128986779
48 TNPO3 NM_012470.4(TNPO3):c.582T>A (p.Asp194Glu) SNV Uncertain significance 1019222 GRCh37: 7:128645184-128645184
GRCh38: 7:129005130-129005130
49 TNPO3 NM_012470.4(TNPO3):c.1724A>G (p.Asp575Gly) SNV Uncertain significance 1022325 GRCh37: 7:128624280-128624280
GRCh38: 7:128984226-128984226
50 TNPO3 NM_012470.4(TNPO3):c.1498+3A>G SNV Uncertain significance 1022544 GRCh37: 7:128630012-128630012
GRCh38: 7:128989958-128989958

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

72
# Symbol AA change Variation ID SNP ID
1 TNPO3 p.Arg818Pro VAR_071822 rs587777431

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

Pathways related to Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.53 SGCG SGCD SGCB LMNA
2 11.11 SGCG SGCD SGCB LMNA
3 10.71 DYSF CAV3

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

Cellular components related to Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytoplasm GO:0005737 10.07 TNPO3 TCAP SGCG SGCD SGCB MYOT
2 T-tubule GO:0030315 9.5 DYSF CAV3 CAPN3
3 dystrophin-associated glycoprotein complex GO:0016010 9.43 SGCD SGCB CAV3
4 Z disc GO:0030018 9.35 TCAP MYOT DNAJB6 CAV3 CAPN3
5 sarcoglycan complex GO:0016012 9.33 SGCG SGCD SGCB
6 sarcolemma GO:0042383 9.17 SGCG SGCD SGCB MYOT FKRP DYSF

Biological processes related to Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2 according to GeneCards Suite gene sharing:

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 muscle contraction GO:0006936 9.5 MYOT DYSF CAV3
2 sarcomere organization GO:0045214 9.49 TCAP CAPN3
3 plasma membrane organization GO:0007009 9.48 DYSF CAV3
4 cardiac muscle tissue development GO:0048738 9.46 SGCG SGCD
5 muscle cell cellular homeostasis GO:0046716 9.43 CAV3 CAPN3
6 heart contraction GO:0060047 9.4 SGCG SGCD
7 plasma membrane repair GO:0001778 9.37 DYSF CAV3
8 cardiac muscle cell development GO:0055013 9.26 SGCB CAV3
9 T-tubule organization GO:0033292 9.16 DYSF CAV3
10 muscle organ development GO:0007517 9.1 SGCG SGCD SGCB LMNA CAV3 CAPN3
11 detection of muscle stretch GO:0035995 8.96 TCAP CAV3

Molecular functions related to Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 titin binding GO:0031432 8.96 TCAP CAPN3
2 structural constituent of muscle GO:0008307 8.8 TCAP MYOT CAPN3

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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