LGMDD2
MCID: MSC178
MIFTS: 47

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

Categories: Cardiovascular diseases, Genetic diseases, Mental diseases, Metabolic diseases, Muscle diseases, Neuronal diseases, Oral diseases, Rare diseases, Respiratory diseases
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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 73
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1f 11 58 28 5
Muscular Dystrophy, Limb-Girdle, Type 1f 57 73 12 71
Lgmd1f 57 11 58 73
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 2 11 14
Lgmdd2 57 73
Tnp03-Related Limb-Girdle Muscular Dystrophy D2 58
Dystrophy, Muscular, Limb-Girdle, Type 1f 38
Muscular Dystrophy Limb-Girdle Type 1f 11
Limb-Girdle Muscular Dystrophy Type 1f 58
Limb-Girdle Muscular Dystrophy 1f 73
Lgmd Type 1f 58

Characteristics:


Inheritance:

Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2: Autosomal dominant 57
Tnp03-Related Limb-Girdle Muscular Dystrophy D2: Autosomal dominant 58

Prevelance:

Tnp03-Related Limb-Girdle Muscular Dystrophy D2: <1/1000000 (Worldwide) 58

Age Of Onset:

Tnp03-Related Limb-Girdle Muscular Dystrophy D2: Adolescent,Adult,Childhood,Infancy 58

OMIM®:

57 (Updated 24-Oct-2022)
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)


Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

Disease Ontology 11 DOID:0110304
OMIM® 57 608423
OMIM Phenotypic Series 57 PS603511
MeSH 43 D049288
ICD10 31 G71.0
ICD10 via Orphanet 32 G71.0
UMLS via Orphanet 72 C1842062
Orphanet 58 ORPHA55595
MedGen 40 C1842062
UMLS 71 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 24-Oct-2022)

MalaCards based summary: Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2, also known as autosomal dominant limb-girdle muscular dystrophy type 1f, is related to myopathy, myofibrillar, 3 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 DREAM Repression and Dynorphin Expression and Acute viral myocarditis. Affiliated tissues include skeletal muscle, and related phenotypes are flexion contracture and spinal rigidity

Orphanet: 58 A rare subtype of autosomal dominant limb-girdle muscular dystrophy ,with a variable age of onset, characterized by progressive, proximal weakness and wasting of the shoulder and pelvic musculature (with the pelvic girdle, and especially the ileopsoas muscle, being more affected) and frequent association of calf hypertrophy, dysphagia, arachnodactyly with or without finger contractures and/or distal and axial muscle involvement. Additional features include an abnormal gait, exercise intolerance, myalgia, fatigue and respiratory insufficiency. Cardiac conduction defects are typically not observed.

UniProtKB/Swiss-Prot: 73 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.

Disease Ontology: 11 An autosomal dominant limb-girdle muscular dystrophy that has material basis in heterozygous mutation in the TNPO3 gene on chromosome 7q32.

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 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27
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 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 96)
# Related Disease Score Top Affiliating Genes
1 myopathy, myofibrillar, 3 28.8 TCAP SGCA MYOT DYSF DNAJB6 CAPN3
2 limb-girdle muscular dystrophy type 1a 28.6 TCAP MYOT FKRP DYSF CAV3 CAPN3
3 autosomal dominant limb-girdle muscular dystrophy 27.8 TNPO3 TCAP SGCB SGCA MYOT LMNA
4 limb-girdle muscular dystrophy 26.8 TNPO3 TCAP SGCG SGCD SGCB SGCA
5 muscular dystrophy 26.8 TNPO3 TCAP SGCG SGCD SGCB SGCA
6 myopathy 26.6 TNPO3 TCAP SGCG SGCD SGCB SGCA
7 progressive muscular dystrophy 10.3
8 fatal infantile hypertonic myofibrillar myopathy 10.2 MYOT DNAJB6
9 myopathy, myofibrillar, 2 10.2 MYOT DNAJB6
10 autosomal recessive limb-girdle muscular dystrophy type 2w 10.2 TNPO3 SGCB
11 limb-girdle muscular dystrophy type 1b 10.2 LMNA CAV3
12 myopathy, x-linked, with postural muscle atrophy 10.1 MYOT LMNA
13 muscular dystrophy, limb-girdle, autosomal recessive 1 10.1 SGCB CAPN3
14 myopathy, myofibrillar, 5 10.1 MYOT CAPN3
15 progressive muscular atrophy 10.1 CAV3 CAPN3
16 muscular dystrophy-dystroglycanopathy , type c, 9 10.1 SGCB SGCA
17 atrial standstill 1 10.0 MYOT LMNA
18 dysferlinopathy 10.0 DYSF CAPN3
19 cardiomyopathy, dilated, 1l 10.0 SGCD SGCB
20 myopathy, spheroid body 10.0 TCAP MYOT DNAJB6
21 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a 10.0
22 myopathy, myofibrillar, 4 9.9 TCAP MYOT CAPN3
23 myopathy, distal, 1 9.9 MYOT DYSF
24 creatine phosphokinase, elevated serum 9.9 TCAP CAV3 CAPN3
25 contractural arachnodactyly, congenital 9.9
26 respiratory failure 9.9
27 paresthesia 9.9 FKRP CAPN3
28 muscular dystrophy-dystroglycanopathy , type c, 2 9.9 FKRP CAPN3
29 congenital fiber-type disproportion 9.8 MYOT LMNA DYSF
30 autosomal recessive limb-girdle muscular dystrophy type 2x 9.8 SGCA DYSF CAV3
31 myopathy, myofibrillar, 9, with early respiratory failure 9.8 TCAP MYOT DNAJB6 CAPN3
32 muscular dystrophy, limb-girdle, type 1h 9.8 TNPO3 SGCB MYOT DNAJB6 CAV3
33 myopathy, distal, 4 9.8 SGCA DYSF CAPN3
34 muscular dystrophy-dystroglycanopathy , type c, 3 9.8 SGCA FKRP
35 familial isolated dilated cardiomyopathy 9.8 TCAP SGCD LMNA
36 centronuclear myopathy 9.8 MYOT DYSF CAV3 CAPN3
37 muscular dystrophy, limb-girdle, autosomal dominant 3 9.7 TNPO3 SGCA MYOT DNAJB6 CAV3
38 cardiomyopathy, familial hypertrophic, 1 9.7 TCAP LMNA CAV3
39 brugada syndrome 9.7 TCAP LMNA CAV3
40 restrictive cardiomyopathy 9.7 TCAP SGCD MYOT LMNA
41 intrinsic cardiomyopathy 9.6 TCAP SGCD LMNA CAV3
42 muscular dystrophy-dystroglycanopathy , type a, 4 9.6 SGCA FKRP
43 rippling muscle disease 2 9.6 FKRP DYSF CAV3
44 muscular dystrophy-dystroglycanopathy , type c, 1 9.6 SGCG SGCB MYOT FKRP
45 myopathy, myofibrillar, 1 9.6 MYOT LMNA DYSF DNAJB6 CAPN3
46 congenital muscular dystrophy-dystroglycanopathy type a 9.5 SGCA FKRP DYSF
47 muscle eye brain disease 9.5 SGCA FKRP
48 muscular dystrophy-dystroglycanopathy , type c, 4 9.5 MYOT FKRP DYSF CAPN3
49 hypertrophic cardiomyopathy 9.5 TCAP SGCD MYOT LMNA CAV3
50 arrhythmogenic right ventricular cardiomyopathy 9.5 SGCG SGCD SGCB SGCA LMNA

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:

30 (show all 17)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 flexion contracture 30 Occasional (7.5%) HP:0001371
2 spinal rigidity 30 Occasional (7.5%) HP:0003306
3 respiratory insufficiency due to muscle weakness 30 Occasional (7.5%) HP:0002747
4 delayed ability to walk 30 Very rare (1%) HP:0031936
5 pallor 30 HP:0000980
6 emg: myopathic abnormalities 30 HP:0003458
7 scapular winging 30 HP:0003691
8 rimmed vacuoles 30 HP:0003805
9 pelvic girdle muscle weakness 30 HP:0003749
10 abnormality of metabolism/homeostasis 30 HP:0001939
11 muscular dystrophy 30 HP:0003560
12 shoulder girdle muscle weakness 30 HP:0003547
13 autophagic vacuoles 30 HP:0003736
14 increased connective tissue 30 HP:0009025
15 centrally nucleated skeletal muscle fibers 30 HP:0003687
16 difficulty running 30 HP:0009046
17 late-onset distal muscle weakness 30 HP:0003810

Symptoms via clinical synopsis from OMIM®:

57 (Updated 24-Oct-2022)
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
shoulder girdle muscle weakness
autophagic vacuoles
increased connective tissue
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 24-Oct-2022)

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

45
# Description MGI Source Accession Score Top Affiliating Genes
1 muscle MP:0005369 9.65 CAPN3 CAV3 DYSF FKRP LMNA SGCA
2 cardiovascular system MP:0005385 9.28 CAPN3 CAV3 FKRP LMNA SGCA 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 Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1f 28 TNPO3

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

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

MalaCards : Skeletal Muscle
ODiseA: Skeletal Muscle

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

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

(show all 21)
# Title Authors PMID Year
1
Limb-girdle muscular dystrophy 1F is caused by a microdeletion in the transportin 3 gene. 62 57 5
23543484 2013
2
Next-generation sequencing identifies transportin 3 as the causative gene for LGMD1F. 62 57 5
23667635 2013
3
Autosomal dominant limb-girdle muscular dystrophy: a large kindred with evidence for anticipation. 57 5
11222786 2001
4
229th ENMC international workshop: Limb girdle muscular dystrophies - Nomenclature and reformed classification Naarden, the Netherlands, 17-19 March 2017. 57
30055862 2018
5
A novel autosomal dominant limb-girdle muscular dystrophy (LGMD 1F) maps to 7q32.1-32.2. 57
12913210 2003
6
Transcriptomic Evidence of the Immune Response Activation in Individuals With Limb Girdle Muscular Dystrophy Dominant 2 (LGMDD2) Contributes to Resistance to HIV-1 Infection. 62
35646913 2022
7
Inhibition of autophagy rescues muscle atrophy in a LGMDD2 Drosophila model. 62
34547132 2021
8
[The TNPO3 mutation that causes LGMD1F induces protection against HIV-1 infection]. 62
31859632 2019
9
The mutation of Transportin 3 gene that causes limb girdle muscular dystrophy 1F induces protection against HIV-1 infection. 62
31465518 2019
10
A novel pathogenic variant in TNPO3 in a Hungarian family with limb-girdle muscular dystrophy 1F. 62
31071488 2019
11
Novel mutation in TNPO3 causes congenital limb-girdle myopathy with slow progression. 62
31192305 2019
12
Long term follow-up and further molecular and histopathological studies in the LGMD1F sporadic TNPO3-mutated patient. 62
30567601 2018
13
Incomplete penetrance in the Spanish family with limb-girdle muscular dystrophy type 1F. 62
26351998 2016
14
Incomplete penetrance in limb-girdle muscular dystrophy type 1F. 62
25487718 2015
15
A defect in the RNA-processing protein HNRPDL causes limb-girdle muscular dystrophy 1G (LGMD1G). 62
24647604 2014
16
Structure of transportin SR2, a karyopherin involved in human disease, in complex with Ran. 62
24915079 2014
17
Genetic basis of limb-girdle muscular dystrophies: the 2014 update. 62
24843229 2014
18
No need for more muscle biopsies in members of the Spanish LGMD1F family. The gene has been identified at last. 62
23981253 2014
19
Clinical phenotype, muscle MRI and muscle pathology of LGMD1F. 62
23632945 2013
20
Ultrastructural changes in LGMD1F. 62
23279333 2013
21
[Limb girdle muscular dystrophies]. 62
15316618 2004

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

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

5 (show top 50) (show all 275)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 TNPO3 NM_012470.4(TNPO3):c.2771del (p.Ter924CysextTer?) DEL Pathogenic
135660 rs587777430 GRCh37: 7:128597310-128597310
GRCh38: 7:128957256-128957256
2 TNPO3 NM_012470.4(TNPO3):c.2679_2682dup (p.Leu895fs) MICROSAT Pathogenic
1323698 GRCh37: 7:128607362-128607363
GRCh38: 7:128967308-128967309
3 TNPO3 NM_012470.4(TNPO3):c.163C>T (p.Gln55Ter) SNV Pathogenic
1323699 GRCh37: 7:128658169-128658169
GRCh38: 7:129018115-129018115
4 TNPO3 NM_012470.4(TNPO3):c.2453G>C (p.Arg818Pro) SNV Pathogenic
135661 rs587777431 GRCh37: 7:128610347-128610347
GRCh38: 7:128970293-128970293
5 TNPO3 NM_012470.4(TNPO3):c.1543del (p.Leu515fs) DEL Likely Pathogenic
1319792 GRCh37: 7:128626930-128626930
GRCh38: 7:128986876-128986876
6 TNPO3 NM_012470.4(TNPO3):c.1334C>T (p.Ala445Val) SNV Likely Pathogenic
802367 rs1585339231 GRCh37: 7:128632077-128632077
GRCh38: 7:128992023-128992023
7 TNPO3 NM_012470.4(TNPO3):c.2767del (p.Arg923fs) DEL Likely Pathogenic
591000 rs1563083759 GRCh37: 7:128597314-128597314
GRCh38: 7:128957260-128957260
8 TNPO3 NM_012470.4(TNPO3):c.608G>A (p.Arg203His) SNV Uncertain Significance
647236 rs977205285 GRCh37: 7:128645158-128645158
GRCh38: 7:129005104-129005104
9 TNPO3 NM_012470.4(TNPO3):c.1216C>G (p.Leu406Val) SNV Uncertain Significance
648298 rs1585340363 GRCh37: 7:128633911-128633911
GRCh38: 7:128993857-128993857
10 TNPO3 NM_012470.4(TNPO3):c.964C>A (p.Arg322=) SNV Uncertain Significance
661107 rs751304152 GRCh37: 7:128640530-128640530
GRCh38: 7:129000476-129000476
11 TNPO3 NM_012470.4(TNPO3):c.2590G>A (p.Asp864Asn) SNV Uncertain Significance
665549 rs1585324543 GRCh37: 7:128610210-128610210
GRCh38: 7:128970156-128970156
12 TNPO3 NM_012470.4(TNPO3):c.1402C>T (p.Arg468Cys) SNV Uncertain Significance
533433 rs781140128 GRCh37: 7:128630111-128630111
GRCh38: 7:128990057-128990057
13 TNPO3 NM_012470.4(TNPO3):c.2152C>T (p.Arg718Trp) SNV Uncertain Significance
533434 rs771596630 GRCh37: 7:128615899-128615899
GRCh38: 7:128975845-128975845
14 TNPO3 NM_012470.4(TNPO3):c.1417G>A (p.Val473Ile) SNV Uncertain Significance
533435 rs150330408 GRCh37: 7:128630096-128630096
GRCh38: 7:128990042-128990042
15 TNPO3 NM_012470.4(TNPO3):c.996C>T (p.Gly332=) SNV Uncertain Significance
533436 rs1554439603 GRCh37: 7:128640498-128640498
GRCh38: 7:129000444-129000444
16 TNPO3 NM_012470.4(TNPO3):c.2543A>G (p.Tyr848Cys) SNV Uncertain Significance
533437 rs1554435157 GRCh37: 7:128610257-128610257
GRCh38: 7:128970203-128970203
17 TNPO3 NM_012470.4(TNPO3):c.28C>T (p.Leu10Phe) SNV Uncertain Significance
533438 rs1554445896 GRCh37: 7:128694797-128694797
GRCh38: 7:129054743-129054743
18 TNPO3 NM_012470.4(TNPO3):c.1521G>T (p.Met507Ile) SNV Uncertain Significance
533439 rs1554437833 GRCh37: 7:128626952-128626952
GRCh38: 7:128986898-128986898
19 TNPO3 NM_012470.4(TNPO3):c.873-3C>T SNV Uncertain Significance
389221 rs780935123 GRCh37: 7:128640624-128640624
GRCh38: 7:129000570-129000570
20 TNPO3 NM_012470.4(TNPO3):c.1611C>A (p.His537Gln) SNV Uncertain Significance
1034406 rs762458456 GRCh37: 7:128626862-128626862
GRCh38: 7:128986808-128986808
21 TNPO3 NM_012470.4(TNPO3):c.1256delinsAA (p.Cys419Ter) INDEL Uncertain Significance
464842 rs1554438685 GRCh37: 7:128633871-128633871
GRCh38: 7:128993817-128993817
22 TNPO3 NM_012470.4(TNPO3):c.317C>T (p.Thr106Met) SNV Uncertain Significance
661166 rs770038958 GRCh37: 7:128658015-128658015
GRCh38: 7:129017961-129017961
23 TNPO3 NM_012470.4(TNPO3):c.2326A>G (p.Ile776Val) SNV Uncertain Significance
194964 rs368873021 GRCh37: 7:128612584-128612584
GRCh38: 7:128972530-128972530
24 TNPO3 NM_012470.4(TNPO3):c.1256G>A (p.Cys419Tyr) SNV Uncertain Significance
464843 rs1554438680 GRCh37: 7:128633871-128633871
GRCh38: 7:128993817-128993817
25 TNPO3 NM_012470.4(TNPO3):c.1873A>G (p.Ile625Val) SNV Uncertain Significance
464846 rs1480719788 GRCh37: 7:128620072-128620072
GRCh38: 7:128980018-128980018
26 TNPO3 NM_012470.4(TNPO3):c.232C>G (p.Leu78Val) SNV Uncertain Significance
464849 rs1554441599 GRCh37: 7:128658100-128658100
GRCh38: 7:129018046-129018046
27 TNPO3 NM_012470.4(TNPO3):c.2186G>C (p.Cys729Ser) SNV Uncertain Significance
464848 rs757809379 GRCh37: 7:128615009-128615009
GRCh38: 7:128974955-128974955
28 TNPO3 NM_012470.4(TNPO3):c.70C>T (p.Pro24Ser) SNV Uncertain Significance
464850 rs1408084010 GRCh37: 7:128694755-128694755
GRCh38: 7:129054701-129054701
29 TNPO3 NM_012470.4(TNPO3):c.1241T>C (p.Ile414Thr) SNV Uncertain Significance
464841 rs1554438690 GRCh37: 7:128633886-128633886
GRCh38: 7:128993832-128993832
30 TNPO3 NM_012470.4(TNPO3):c.1409C>T (p.Pro470Leu) SNV Uncertain Significance
464844 rs137891112 GRCh37: 7:128630104-128630104
GRCh38: 7:128990050-128990050
31 TNPO3 NM_012470.4(TNPO3):c.1927C>T (p.Pro643Ser) SNV Uncertain Significance
464847 rs1400881026 GRCh37: 7:128619171-128619171
GRCh38: 7:128979117-128979117
32 TNPO3 NM_012470.4(TNPO3):c.2653G>A (p.Val885Met) SNV Uncertain Significance
593072 rs545012511 GRCh37: 7:128607392-128607392
GRCh38: 7:128967338-128967338
33 TNPO3 NM_012470.4(TNPO3):c.991G>T (p.Ala331Ser) SNV Uncertain Significance
1206928 GRCh37: 7:128640503-128640503
GRCh38: 7:129000449-129000449
34 TNPO3 NM_012470.4(TNPO3):c.1474G>A (p.Val492Ile) SNV Uncertain Significance
1315438 GRCh37: 7:128630039-128630039
GRCh38: 7:128989985-128989985
35 TNPO3 NM_012470.4(TNPO3):c.11C>A (p.Ala4Glu) SNV Uncertain Significance
1358738 GRCh37: 7:128694814-128694814
GRCh38: 7:129054760-129054760
36 TNPO3 NM_012470.4(TNPO3):c.2534T>G (p.Leu845Arg) SNV Uncertain Significance
1372554 GRCh37: 7:128610266-128610266
GRCh38: 7:128970212-128970212
37 TNPO3 NM_012470.4(TNPO3):c.766A>G (p.Ile256Val) SNV Uncertain Significance
1372871 GRCh37: 7:128641219-128641219
GRCh38: 7:129001165-129001165
38 overlap with 5 genes NC_000007.13:g.(?_128470692)_(128694824_?)dup DUP Uncertain Significance
1375554 GRCh37: 7:128470692-128694824
GRCh38:
39 TNPO3 NM_012470.4(TNPO3):c.1609C>A (p.His537Asn) SNV Uncertain Significance
1374565 GRCh37: 7:128626864-128626864
GRCh38: 7:128986810-128986810
40 TNPO3 NM_012470.4(TNPO3):c.2276T>G (p.Phe759Cys) SNV Uncertain Significance
1381346 GRCh37: 7:128612634-128612634
GRCh38: 7:128972580-128972580
41 TNPO3 NM_012470.4(TNPO3):c.1936T>C (p.Ser646Pro) SNV Uncertain Significance
1382647 GRCh37: 7:128619162-128619162
GRCh38: 7:128979108-128979108
42 TNPO3 NM_012470.4(TNPO3):c.559T>G (p.Cys187Gly) SNV Uncertain Significance
1390080 GRCh37: 7:128645207-128645207
GRCh38: 7:129005153-129005153
43 TNPO3 NM_012470.4(TNPO3):c.368del (p.Lys123fs) DEL Uncertain Significance
1381334 GRCh37: 7:128657064-128657064
GRCh38: 7:129017010-129017010
44 TNPO3 NM_012470.4(TNPO3):c.2674C>T (p.His892Tyr) SNV Uncertain Significance
1409021 GRCh37: 7:128607371-128607371
GRCh38: 7:128967317-128967317
45 TNPO3 NM_012470.4(TNPO3):c.2324C>G (p.Pro775Arg) SNV Uncertain Significance
1399437 GRCh37: 7:128612586-128612586
GRCh38: 7:128972532-128972532
46 TNPO3 NM_012470.4(TNPO3):c.2071G>A (p.Val691Met) SNV Uncertain Significance
1422082 GRCh37: 7:128615980-128615980
GRCh38: 7:128975926-128975926
47 TNPO3 NM_012470.4(TNPO3):c.390G>A (p.Val130=) SNV Uncertain Significance
1397122 GRCh37: 7:128657042-128657042
GRCh38: 7:129016988-129016988
48 TNPO3 NM_012470.4(TNPO3):c.1840C>T (p.Arg614Cys) SNV Uncertain Significance
1424494 GRCh37: 7:128622321-128622321
GRCh38: 7:128982267-128982267
49 TNPO3 NM_012470.4(TNPO3):c.2599-3_2599-2del DEL Uncertain Significance
1424713 GRCh37: 7:128607448-128607449
GRCh38: 7:128967394-128967395
50 TNPO3 NM_012470.4(TNPO3):c.2677A>C (p.Lys893Gln) SNV Uncertain Significance
1437825 GRCh37: 7:128607368-128607368
GRCh38: 7:128967314-128967314

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

73
# 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
11.77 SGCG SGCD SGCB SGCA LMNA CAPN3
2 11.13 SGCG SGCD SGCB SGCA
3 10.81 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 Z disc GO:0030018 10.02 TCAP MYOT DNAJB6 CAV3 CAPN3
2 dystrophin-associated glycoprotein complex GO:0016010 9.86 SGCD SGCB SGCA CAV3
3 T-tubule GO:0030315 9.85 DYSF CAV3 CAPN3
4 sarcoglycan complex GO:0016012 9.76 SGCA SGCB SGCD SGCG
5 sarcolemma GO:0042383 9.53 SGCG SGCD SGCB SGCA MYOT FKRP
6 dystroglycan complex GO:0016011 9.26 SGCG SGCD SGCB SGCA

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

# Name GO ID Score Top Affiliating Genes
1 muscle cell cellular homeostasis GO:0046716 9.76 CAV3 CAPN3
2 plasma membrane organization GO:0007009 9.73 DYSF CAV3
3 heart contraction GO:0060047 9.71 SGCG SGCD
4 cardiac muscle tissue development GO:0048738 9.67 SGCG SGCD
5 cardiac muscle hypertrophy GO:0003300 9.62 TCAP CAV3
6 T-tubule organization GO:0033292 9.56 DYSF CAV3
7 cardiac muscle cell development GO:0055013 9.56 TCAP SGCD SGCB CAV3
8 detection of muscle stretch GO:0035995 9.46 CAV3 TCAP
9 muscle organ development GO:0007517 9.44 SGCG SGCD SGCB SGCA LMNA 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 9.26 TCAP CAPN3
2 structural constituent of muscle GO:0008307 9.1 TCAP MYOT CAPN3

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

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 24-Oct-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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