LGMDR5
MCID: MSC171
MIFTS: 39

Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 (LGMDR5)

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

Aliases & Classifications for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5

MalaCards integrated aliases for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5:

Name: Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 56 73
Lgmd2c 56 52 58 73
Muscular Dystrophy, Limb-Girdle, Type 2c 56 73 13
Dmda1 56 52 73
Severe Autosomal Recessive Muscular Dystrophy of Childhood - North African Type 29 6
Severe Childhood Autosomal Recessive Muscular Dystrophy, North African Type 56 52
Limb-Girdle Muscular Dystrophy Due to Gamma-Sarcoglycan Deficiency 52 58
Duchenne-Like Muscular Dystrophy, Autosomal Recessive, Type 1 56 52
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5 52 58
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2c 52 58
Muscular Dystrophy, Duchenne-Like 56 52
Adhalin Deficiency, Secondary 56 52
Gamma-Sarcoglycanopathy 52 58
Maghrebian Myopathy 56 52
Lgmdr5 56 73
Scarmd 56 73
Dmda 56 52
Severe Childhood Autosomal Recessive Muscular Dystrophy, North African Type; Scarmd 56
Severe Childhood Autosomal Recessive Muscular Dystrophy North African Type 73
Duchenne-Like Muscular Dystrophy, Autosomal Recessive, Type 1; Dmda1 56
Limb-Girdle Muscular Dystrophy with Gamma-Sarcoglycan Deficiency 52
Duchenne-Like Muscular Dystrophy Autosomal Recessive Type 1 73
Muscular Dystrophy, Limb-Girdle, Type 2c; Lgmd2c 56
Dystrophy, Muscular, Limb-Girdle, Type 2c 39
Limb-Girdle Muscular Dystrophy, Type 2c 52
Sarcoglycan, Gamma, Deficiency of 56
Limb-Girdle Muscular Dystrophy 2c 73
Sarcoglycan Gamma Deficiency 73

Characteristics:

Orphanet epidemiological data:

58
gamma-sarcoglycan-related limb-girdle muscular dystrophy r5
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (Europe); Age of onset: Childhood; Age of death: adult;

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
rapid progression
onset 1-12 years
prevalent in north africa
wheelchair use by 10-30 years


HPO:

31
muscular dystrophy, limb-girdle, autosomal recessive 5:
Inheritance autosomal recessive inheritance
Onset and clinical course rapidly progressive


Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

OMIM 56 253700
OMIM Phenotypic Series 56 PS253600
MeSH 43 D049288
ICD10 via Orphanet 33 G71.0
UMLS via Orphanet 72 C0410173
Orphanet 58 ORPHA353
MedGen 41 C0410173

Summaries for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5

NIH Rare Diseases : 52 Limb-girdle muscular dystrophy type 2C (LGMD2C) is a genetic condition that affects the voluntary muscles around the hips and shoulders. This condition belongs to a group of muscle disorders called limb-girdle muscular dystrophies , which are characterized by progressive loss of muscle bulk and symmetrical weakening of voluntary muscles. Symptoms of LGMD2C usually appear around 6-8 years of age, may be mild or severe, and can progress to loss of the ability to walk by 12-16 years. Symptoms may additionally include: enlargement (hypertrophy) of the calf muscle and tongue, diseases of the heart muscle (cardiomyopathy ), and respiratory abnormalities. LGMD2C is caused by mutations in the SGCG gene and is inherited in an autosomal recessive manner. Although there is no specific treatment or cure for LGMD2C, there are ways to manage the symptoms. A team of doctors or specialists is often needed to figure out the treatment options for each person.

MalaCards based summary : Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5, also known as lgmd2c, is related to autosomal recessive limb-girdle muscular dystrophy type 2c and limb-girdle muscular dystrophy. An important gene associated with Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 is SGCG (Sarcoglycan Gamma). Affiliated tissues include heart, tongue and skeletal muscle, and related phenotypes are scoliosis and gowers sign

UniProtKB/Swiss-Prot : 73 Muscular dystrophy, limb-girdle, autosomal recessive 5: An autosomal recessive degenerative myopathy characterized by rapidly progressive muscle wasting from early childhood with loss of independent ambulation around age 12 years, dystrophic pattern on muscle biopsy, absence of gamma-sarcoglycan and normal dystrophin immunostaining.

More information from OMIM: 253700 PS253600

Related Diseases for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5

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
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 Recessive 5 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 42)
# Related Disease Score Top Affiliating Genes
1 autosomal recessive limb-girdle muscular dystrophy type 2c 11.8
2 limb-girdle muscular dystrophy 11.6
3 muscular dystrophy 10.5
4 qualitative or quantitative defects of sarcoglycan 10.4
5 cardiac arrhythmia 10.4
6 muscular dystrophy, duchenne type 10.4
7 diamond-blackfan anemia 2 10.4
8 respiratory failure 10.4
9 pneumothorax 10.4
10 muscular dystrophy, congenital, lmna-related 10.3
11 myopathy 10.3
12 muscular dystrophy, limb-girdle, autosomal recessive 3 10.2
13 progressive muscular dystrophy 10.2
14 major affective disorder 8 10.2
15 major affective disorder 9 10.2
16 bipolar disorder 10.2
17 muscular atrophy 10.2
18 myositis 10.1
19 muscular dystrophy, limb-girdle, autosomal recessive 1 10.1
20 muscular dystrophy, becker type 10.1
21 stroke, ischemic 10.1
22 encephalopathy, progressive, early-onset, with episodic rhabdomyolysis 10.1
23 myoglobinuria 10.1
24 cerebrovascular disease 10.1
25 hypereosinophilic syndrome 10.1
26 spastic ataxia, charlevoix-saguenay type 10.1
27 ataxia and polyneuropathy, adult-onset 10.1
28 muscular dystrophy, limb-girdle, autosomal recessive 6 10.1
29 branchiootic syndrome 1 10.1
30 muscular dystrophy, limb-girdle, autosomal recessive 4 10.1
31 nonsyndromic deafness 10.1
32 autosomal recessive disease 10.1
33 spastic ataxia 10.1
34 autosomal recessive limb-girdle muscular dystrophy 10.1
35 peripheral nervous system disease 10.1
36 neuropathy 10.1
37 dystrophinopathies 10.1
38 deafness, autosomal dominant nonsyndromic sensorineural 3 10.1
39 dfnb1 10.1
40 spasticity 10.1
41 qualitative or quantitative defects of dystrophin 10.1
42 autosomal recessive spastic ataxia 10.1

Graphical network of the top 20 diseases related to Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5:



Diseases related to Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5

Symptoms & Phenotypes for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5

Human phenotypes related to Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5:

58 31 (show all 36)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 scoliosis 58 31 Occasional (29-5%) HP:0002650
2 gowers sign 58 31 Occasional (29-5%) HP:0003391
3 calf muscle pseudohypertrophy 58 31 Frequent (79-30%) HP:0003707
4 right ventricular hypertrophy 58 31 Frequent (79-30%) HP:0001667
5 hyperlordosis 31 HP:0003307
6 macroglossia 58 Frequent (79-30%)
7 flexion contracture 31 HP:0001371
8 elevated serum creatine phosphokinase 58 Frequent (79-30%)
9 skeletal muscle atrophy 31 HP:0003202
10 restrictive ventilatory defect 31 HP:0002091
11 achilles tendon contracture 58 Occasional (29-5%)
12 waddling gait 58 Frequent (79-30%)
13 emg: myopathic abnormalities 58 Frequent (79-30%)
14 scapular winging 58 Frequent (79-30%)
15 long face 58 Occasional (29-5%)
16 pneumonia 31 HP:0002090
17 muscular dystrophy 31 HP:0003560
18 increased variability in muscle fiber diameter 58 Frequent (79-30%)
19 neck flexor weakness 58 Occasional (29-5%)
20 upper limb muscle weakness 58 Frequent (79-30%)
21 frequent falls 58 Frequent (79-30%)
22 difficulty climbing stairs 58 Frequent (79-30%)
23 difficulty running 58 Frequent (79-30%)
24 calf muscle hypertrophy 58 Frequent (79-30%)
25 increased endomysial connective tissue 58 Frequent (79-30%)
26 lumbar hyperlordosis 58 Frequent (79-30%)
27 abnormal macrophage morphology 58 Frequent (79-30%)
28 broad-based gait 58 Frequent (79-30%)
29 emg: myotonic runs 58 Frequent (79-30%)
30 left ventricular systolic dysfunction 58 Occasional (29-5%)
31 right ventricular dilatation 31 HP:0005133
32 tip-toe gait 58 Occasional (29-5%)
33 emg: positive sharp waves 58 Frequent (79-30%)
34 emg: myotonic discharges 58 Frequent (79-30%)
35 muscle fiber necrosis 31 HP:0003713
36 elevated serum creatine kinase 31 HP:0003236

Symptoms via clinical synopsis from OMIM:

56
Skeletal Spine:
scoliosis
hyperlordosis

Muscle Soft Tissue:
gowers sign
calf muscle pseudohypertrophy
muscle fiber necrosis
muscle atrophy
progressive proximal muscle involvement
more
Skeletal Limbs:
joint contractures

Respiratory Lung:
pneumonia
restrictive lung disease

Cardiovascular Heart:
right ventricular hypertrophy
right ventricular dilatation
subclinical cardiac involvement in a subset of patients
abnormal precordial tall r waves on ekg

Laboratory Abnormalities:
increased serum creatine kinase

Clinical features from OMIM:

253700

Drugs & Therapeutics for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Phase I Clinical Study of AAV1-gamma-sarcoglycan Gene Therapy for Limb Girdle Muscular Dystrophy Type 2C Completed NCT01344798 Phase 1

Search NIH Clinical Center for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5

Genetic Tests for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5

Genetic tests related to Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5:

# Genetic test Affiliating Genes
1 Severe Autosomal Recessive Muscular Dystrophy of Childhood - North African Type 29 SGCG

Anatomical Context for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5

MalaCards organs/tissues related to Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5:

40
Heart, Tongue, Skeletal Muscle, Lung

Publications for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5

Articles related to Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5:

(show top 50) (show all 108)
# Title Authors PMID Year
1
A founder mutation in the gamma-sarcoglycan gene of gypsies possibly predating their migration out of India. 61 56 6
8968757 1996
2
Mutations that disrupt the carboxyl-terminus of gamma-sarcoglycan cause muscular dystrophy. 56 6
8923014 1996
3
Mutations in the dystrophin-associated protein gamma-sarcoglycan in chromosome 13 muscular dystrophy. 56 6
7481775 1995
4
Linkage of Tunisian autosomal recessive Duchenne-like muscular dystrophy to the pericentromeric region of chromosome 13q. 56 6
1303286 1992
5
C283Y gamma-sarcoglycan gene mutation in the Bulgarian Roma (Gypsy) population: prevalence study and carrier screening in a high-risk community. 61 6
15479193 2004
6
Evaluation of heart involvement in gamma-sarcoglycanopathy (LGMD2C). A study of ten patients. 61 56
11053682 2000
7
Homogeneous phenotype of the gypsy limb-girdle MD with the gamma-sarcoglycan C283Y mutation. 61 56
10720277 2000
8
C283Y mutation and other C-terminal nucleotide changes in the gamma-sarcoglycan gene in the Bulgarian Gypsy population. 61 6
10447257 1999
9
Severe limb girdle muscular dystrophy in Spanish gypsies: further evidence for a founder mutation in the gamma-sarcoglycan gene. 61 6
9781048 1998
10
Estimate of severe autosomal recessive limb-girdle muscular dystrophy (LGMD2C, LGMD2D) among sporadic muscular dystrophy males: a study of 415 familes. 61 56
8825917 1995
11
Evidence for linkage disequilibrium in chromosome 13-linked Duchenne-like muscular dystrophy (LGMD2C) 61 56
7668303 1995
12
229th ENMC international workshop: Limb girdle muscular dystrophies - Nomenclature and reformed classification Naarden, the Netherlands, 17-19 March 2017. 56
30055862 2018
13
Revised spectrum of mutations in sarcoglycanopathies. 56
18285821 2008
14
A novel mutation in two families with limb-girdle muscular dystrophy type 2C. 6
16832103 2006
15
Canine and feline models of human inherited muscle diseases. 56
15694134 2005
16
Mutation history of the roma/gypsies. 6
15322984 2004
17
Neuromuscular disorders in the Gypsy ethnic group. A short review. 56
12966699 2003
18
Molecular and genetic characterization of sarcospan: insights into sarcoglycan-sarcospan interactions. 6
10942431 2000
19
Limb-Girdle Muscular Dystrophy Overview 6
20301582 2000
20
Private beta- and gamma-sarcoglycan gene mutations: evidence of a founder effect in Northern Italy. 6
10874299 2000
21
Muscle degeneration without mechanical injury in sarcoglycan deficiency. 56
10485893 1999
22
Limb-girdle muscular dystrophy with apparently different clinical courses within sexes in a large inbred kindred. 56
10507732 1999
23
Absence of gamma-sarcoglycan (35 DAG) in autosomal recessive muscular dystrophy linked to chromosome 13q12. 56
8641426 1996
24
Primary adhalinopathy: a common cause of autosomal recessive muscular dystrophy of variable severity. 56
7663524 1995
25
The frequency of patients with 50-kd dystrophin-associated glycoprotein (50DAG or adhalin) deficiency in a muscular dystrophy patient population in Japan: immunocytochemical analysis of 50DAG, 43DAG, dystrophin, and utrophin. 56
7898714 1995
26
Abnormal expression of laminin suggests disturbance of sarcolemma-extracellular matrix interaction in Japanese patients with autosomal recessive muscular dystrophy deficient in adhalin. 56
8040315 1994
27
Linkage analysis of families with severe childhood autosomal recessive muscular dystrophy in Morocco indicates genetic homogeneity of the disease in north Africa. 56
8071965 1994
28
Genetic heterogeneity for Duchenne-like muscular dystrophy (DLMD) based on linkage and 50 DAG analysis. 56
8281158 1993
29
Severe childhood autosomal recessive muscular dystrophy with the deficiency of the 50 kDa dystrophin-associated glycoprotein maps to chromosome 13q12. 56
8242065 1993
30
Deficiency of the 50 kDa dystrophin associated glycoprotein (adhalin) in severe autosomal recessive muscular dystrophies in children native from European countries. 56
8044705 1993
31
Exclusion of the 15q locus as a candidate gene for severe childhood autosomal recessive Duchenne-like muscular dystrophy in Brazilian families. 56
8499908 1993
32
Deficiency of the 50K dystrophin-associated glycoprotein in severe childhood autosomal recessive muscular dystrophy. 56
1406935 1992
33
Screening of male patients with autosomal recessive Duchenne dystrophy through dystrophin and DNA studies. 56
1867262 1991
34
Presence of normal dystrophin in Tunisian severe childhood autosomal recessive muscular dystrophy. 56
2247244 1990
35
Brother/sister pairs affected with early-onset, progressive muscular dystrophy: molecular studies reveal etiologic heterogeneity. 56
2568091 1989
36
Estimate of the proportion of Duchenne muscular dystrophy with autosomal recessive inheritance. 56
2658592 1989
37
A new type of muscular dystrophy in two brothers: analysis by use of DNA probes suggests autosomal recessive inheritance. 56
3228998 1988
38
Duchenne-like muscular dystrophy in two sisters with normal karyotypes: evidence for autosomal recessive inheritance. 56
4042397 1985
39
Severe childhood muscular dystrophy affecting both sexes and frequent in Tunisia. 56
6633560 1983
40
[Duchenne muscular dystrophy in Tunesia: 31 cases in 13 families with autosomal recessive inheritance]. 56
7400780 1980
41
Muscular dystrophy in six young girls. 56
574202 1979
42
Clinical, genetic and electrocardiographic studies in childhood muscular dystrophy. 56
13913764 1961
43
Progressive muscular dystrophy of the Duchenne type in females and its mode of inheritance. 56
13724668 1960
44
Autosomal recessive inheritance of Duchennetype muscular dystrophy. 56
13509526 1958
45
Autosomal recessive limb-girdle and Miyoshi muscular dystrophies in the Netherlands: The clinical and molecular spectrum of 244 patients. 61
30919934 2019
46
Clinical and genetic spectrum of sarcoglycanopathies in a large cohort of Chinese patients. 61
30764848 2019
47
Childhood onset limb-girdle muscular dystrophies in the Aegean part of Turkey. 61
30838351 2018
48
MRI in sarcoglycanopathies: a large international cohort study. 61
28889091 2018
49
Tips to Design Effective Splice-Switching Antisense Oligonucleotides for Exon Skipping and Exon Inclusion. 61
30171536 2018
50
Immunohistochemistry of sarcolemmal membrane-associated proteins in formalin-fixed and paraffin-embedded skeletal muscle tissue: a promising tool for the diagnostic evaluation of common muscular dystrophies. 61
28219397 2017

Variations for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5

ClinVar genetic disease variations for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5:

6 (show top 50) (show all 94) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SGCG NM_000231.2(SGCG):c.195+4_195+7delshort repeat Pathogenic 208611 rs797045106 13:23778028-23778031 13:23203889-23203892
2 SGCG NM_000231.2(SGCG):c.690T>A (p.Ser230Arg)SNV Pathogenic 226415 rs875989949 13:23894887-23894887 13:23320748-23320748
3 SGCG SGCG, 1-BP DEL, 525Tdeletion Pathogenic 2004
4 SGCG SGCG, 2-BP DEL, 801TCdeletion Pathogenic 2005
5 SGCG SGCG, 2-BP DEL, 793TGdeletion Pathogenic 2007
6 SGCG NM_000231.2(SGCG):c.87dup (p.Gly30fs)duplication Pathogenic 2008 13:23777919-23777920 13:23203780-23203781
7 SGCG NM_000231.2(SGCG):c.787G>A (p.Glu263Lys)SNV Pathogenic 2009 rs104894423 13:23898591-23898591 13:23324452-23324452
8 SGCG NM_000231.2(SGCG):c.525del (p.Phe175fs)deletion Pathogenic 189243 rs786204786 13:23869569-23869569 13:23295430-23295430
9 SGCG NM_000231.2(SGCG):c.581T>C (p.Leu194Ser)SNV Pathogenic 281085 rs547818652 13:23894778-23894778 13:23320639-23320639
10 SGCG NM_000231.2(SGCG):c.195+1G>CSNV Pathogenic 283707 rs200502077 13:23778029-23778029 13:23203890-23203890
11 SGCG NC_000013.10:g.(?_23777814)_(23853637_?)deldeletion Pathogenic 530810 13:23777814-23853637 13:23203675-23279498
12 SGCG NC_000013.10:g.(?_23667335)_(23985398_?)deldeletion Pathogenic 583650 13:23667335-23985398 13:23093196-23411259
13 SGCG NM_000231.2(SGCG):c.342dup (p.Ala115fs)duplication Pathogenic 651443 13:23824812-23824813 13:23250673-23250674
14 SGCG NC_000013.10:g.(?_23667335)_(23985388_?)deldeletion Pathogenic 652383 13:23667335-23985388 13:23093196-23411249
15 SGCG NC_000013.10:g.(?_23667335)_(23778038_?)deldeletion Pathogenic 644834 13:23667335-23778038 13:23093196-23203899
16 SGCG NM_000231.2(SGCG):c.333del (p.Thr112fs)deletion Pathogenic 694029 13:23824804-23824804 13:23250665-23250665
17 SGCG NM_000231.2(SGCG):c.579-2A>GSNV Pathogenic/Likely pathogenic 392545 rs754415994 13:23894774-23894774 13:23320635-23320635
18 SGCG NM_000231.2(SGCG):c.752del (p.Thr251fs)deletion Pathogenic/Likely pathogenic 283952 rs886042749 13:23898556-23898556 13:23324417-23324417
19 SGCG NM_000231.2(SGCG):c.848G>A (p.Cys283Tyr)SNV Pathogenic/Likely pathogenic 2006 rs104894422 13:23898652-23898652 13:23324513-23324513
20 SGCG NM_000231.2(SGCG):c.702+1G>CSNV Likely pathogenic 461625 rs1555248000 13:23894900-23894900 13:23320761-23320761
21 SGCG NM_000231.2(SGCG):c.298-2A>CSNV Likely pathogenic 554984 rs1555240119 13:23824767-23824767 13:23250628-23250628
22 SGCG NM_000231.2(SGCG):c.723_724TG[2] (p.Cys243fs)short repeat Likely pathogenic 556967 rs758078849 13:23898527-23898528 13:23324388-23324389
23 SGCG NM_000231.2(SGCG):c.186G>A (p.Trp62Ter)SNV Likely pathogenic 557275 rs1555234810 13:23778019-23778019 13:23203880-23203880
24 SGCG NM_000231.2(SGCG):c.591dup (p.Thr198fs)duplication Likely pathogenic 553202 rs1555247973 13:23894783-23894784 13:23320644-23320645
25 SGCG NM_000231.2(SGCG):c.794_795GT[3] (p.Cys267fs)short repeat Likely pathogenic 552513 rs780348174 13:23898597-23898598 13:23324458-23324459
26 SGCG NM_000231.2(SGCG):c.133del (p.Ile45fs)deletion Likely pathogenic 550717 rs1555234799 13:23777966-23777966 13:23203827-23203827
27 SGCG NM_000231.2(SGCG):c.385+2T>ASNV Likely pathogenic 555462 rs200206447 13:23824858-23824858 13:23250719-23250719
28 SGCG NM_000231.2(SGCG):c.386-1G>ASNV Likely pathogenic 553947 rs913248720 13:23853497-23853497 13:23279358-23279358
29 SGCG NM_000231.2(SGCG):c.721del (p.Thr241fs)deletion Likely pathogenic 554046 rs1555248289 13:23898523-23898523 13:23324384-23324384
30 SGCG NM_000231.2(SGCG):c.768del (p.Ser257fs)deletion Likely pathogenic 555584 rs1199421806 13:23898572-23898572 13:23324433-23324433
31 SGCG NM_000231.2(SGCG):c.385+2T>CSNV Likely pathogenic 655056 13:23824858-23824858 13:23250719-23250719
32 SGCG NM_000231.2(SGCG):c.241_297+1169deldeletion Likely pathogenic 664767 13:23808791-23810016 13:23234652-23235877
33 SGCG NM_000231.2(SGCG):c.247G>T (p.Glu83Ter)SNV Likely pathogenic 617548 rs1566011034 13:23808801-23808801 13:23234662-23234662
34 SGCG NM_000231.2(SGCG):c.578+1G>CSNV Likely pathogenic 553878 rs1555245353 13:23869627-23869627 13:23295488-23295488
35 SGCG NM_000231.2(SGCG):c.702+1G>ASNV Likely pathogenic 555320 rs1555248000 13:23894900-23894900 13:23320761-23320761
36 SGCG NM_000231.2(SGCG):c.*10G>ASNV Conflicting interpretations of pathogenicity 255599 rs139369964 13:23898690-23898690 13:23324551-23324551
37 SGCG NM_000231.2(SGCG):c.-6T>CSNV Conflicting interpretations of pathogenicity 311479 rs141771521 13:23755209-23755209 13:23181070-23181070
38 SGCG NM_000231.2(SGCG):c.479T>C (p.Val160Ala)SNV Conflicting interpretations of pathogenicity 311480 rs527562042 13:23853591-23853591 13:23279452-23279452
39 SGCG NM_000231.2(SGCG):c.832G>A (p.Gly278Ser)SNV Conflicting interpretations of pathogenicity 285833 rs147820869 13:23898636-23898636 13:23324497-23324497
40 SGCG NM_000231.2(SGCG):c.326A>G (p.Gln109Arg)SNV Uncertain significance 286200 rs201514102 13:23824797-23824797 13:23250658-23250658
41 SGCG NM_000231.2(SGCG):c.*478_*481dupAAGTshort repeat Uncertain significance 311487 rs886050066 13:23899153-23899154 13:23325014-23325015
42 SGCG NM_000231.2(SGCG):c.-125A>GSNV Uncertain significance 311476 rs886050064 13:23755090-23755090 13:23180951-23180951
43 SGCG NM_000231.2(SGCG):c.*136T>ASNV Uncertain significance 311483 rs3751372 13:23898816-23898816 13:23324677-23324677
44 SGCG NM_000231.2(SGCG):c.*185G>ASNV Uncertain significance 311485 rs115918628 13:23898865-23898865 13:23324726-23324726
45 SGCG NM_000231.2(SGCG):c.803C>T (p.Pro268Leu)SNV Uncertain significance 284977 rs143110015 13:23898607-23898607 13:23324468-23324468
46 SGCG NM_000231.2(SGCG):c.235C>T (p.Arg79Cys)SNV Uncertain significance 285054 rs148404730 13:23808789-23808789 13:23234650-23234650
47 SGCG NM_000231.2(SGCG):c.596G>A (p.Arg199Gln)SNV Uncertain significance 285130 rs200191311 13:23894793-23894793 13:23320654-23320654
48 SGCG NM_000231.2(SGCG):c.77T>C (p.Ile26Thr)SNV Uncertain significance 285596 rs886043151 13:23777910-23777910 13:23203771-23203771
49 SGCG NM_000231.2(SGCG):c.236G>A (p.Arg79His)SNV Uncertain significance 289563 rs375766013 13:23808790-23808790 13:23234651-23234651
50 SGCG NM_000231.2(SGCG):c.275C>A (p.Ala92Asp)SNV Uncertain significance 290235 rs886044395 13:23808829-23808829 13:23234690-23234690

UniProtKB/Swiss-Prot genetic disease variations for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5:

73
# Symbol AA change Variation ID SNP ID
1 SGCG p.Cys283Tyr VAR_010398 rs104894422
2 SGCG p.Gly69Asp VAR_010430
3 SGCG p.Gly69Arg VAR_012202
4 SGCG p.Leu71Ser VAR_081101 rs143009120

Copy number variations for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 from CNVD:

7
# CNVD ID Chromosome Start End Type Gene Symbol CNVD Disease
1 262034 X 29400000 31500000 Microdeletion Duchenne-like muscular dystrophy
2 262131 X 31047265 33267647 Insertion DMD Duchenne-like muscular dystrophy

Expression for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5

Search GEO for disease gene expression data for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5.

Pathways for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5

GO Terms for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5

Sources for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5

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