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LGMDR5
MCID: MSC171
MIFTS: 39

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

Categories: Genetic diseases, Metabolic diseases, Muscle diseases, Neuronal diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes Drugs
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Aliases & Classifications for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5

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

Name: Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 58 76
Lgmd2c 58 54 60 76
Muscular Dystrophy, Limb-Girdle, Type 2c 58 76 13
Dmda1 58 54 76
Severe Autosomal Recessive Muscular Dystrophy of Childhood - North African Type 30 6
Severe Childhood Autosomal Recessive Muscular Dystrophy, North African Type 58 54
Limb-Girdle Muscular Dystrophy Due to Gamma-Sarcoglycan Deficiency 54 60
Duchenne-Like Muscular Dystrophy, Autosomal Recessive, Type 1 58 54
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2c 54 60
Muscular Dystrophy, Duchenne-Like 58 54
Adhalin Deficiency, Secondary 58 54
Gamma-Sarcoglycanopathy 54 60
Maghrebian Myopathy 58 54
Lgmdr5 58 76
Scarmd 58 76
Dmda 58 54
Severe Childhood Autosomal Recessive Muscular Dystrophy, North African Type; Scarmd 58
Severe Childhood Autosomal Recessive Muscular Dystrophy North African Type 76
Duchenne-Like Muscular Dystrophy, Autosomal Recessive, Type 1; Dmda1 58
Limb-Girdle Muscular Dystrophy with Gamma-Sarcoglycan Deficiency 54
Duchenne-Like Muscular Dystrophy Autosomal Recessive Type 1 76
Muscular Dystrophy, Limb-Girdle, Type 2c; Lgmd2c 58
Dystrophy, Muscular, Limb-Girdle, Type 2c 41
Limb-Girdle Muscular Dystrophy, Type 2c 54
Sarcoglycan, Gamma, Deficiency of 58
Limb-Girdle Muscular Dystrophy 2c 76
Sarcoglycan Gamma Deficiency 76
Sarcoglycan, Gamma 13

Characteristics:

Orphanet epidemiological data:

60
autosomal recessive limb-girdle muscular dystrophy type 2c
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (Europe); Age of onset: Childhood; Age of death: adult;

OMIM:

58
Inheritance:
autosomal recessive

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


HPO:

33
muscular dystrophy, limb-girdle, autosomal recessive 5:
Onset and clinical course rapidly progressive
Inheritance autosomal recessive inheritance


Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Metabolic diseases
Anatomical: Neuronal diseases Muscle diseases
See all MalaCards categories (disease lists)
ICD10: 35
Orphanet: 60  
Rare neurological diseases


Sources

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

About this section
NIH Rare Diseases : 54 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 lung cancer susceptibility 3. An important gene associated with Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 is SGCG (Sarcoglycan Gamma). The drugs Lisinopril and Coenzyme Q10 have been mentioned in the context of this disorder. Affiliated tissues include heart, tongue and lung, and related phenotypes are scoliosis and gowers sign

UniProtKB/Swiss-Prot : 76 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.

Description from OMIM: 253700
Sources

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

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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

Diseases related to Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 12)
# Related Disease Score Top Affiliating Genes
1 autosomal recessive limb-girdle muscular dystrophy type 2c 11.7
2 lung cancer susceptibility 3 10.4
3 muscular dystrophy 10.3
4 limb-girdle muscular dystrophy 10.2
5 myositis 10.1
6 myoglobinuria 10.1
7 muscular dystrophy, limb-girdle, autosomal recessive 3 10.0
8 nonsyndromic deafness 10.0
9 autosomal recessive limb-girdle muscular dystrophy 10.0
10 deafness, autosomal dominant nonsyndromic sensorineural 3 10.0
11 dfnb1 10.0
12 mediastinal endodermal sinus tumors 10.0

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

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

60 33 (show all 36)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 scoliosis 60 33 Occasional (29-5%) HP:0002650
2 gowers sign 60 33 Occasional (29-5%) HP:0003391
3 calf muscle pseudohypertrophy 60 33 Frequent (79-30%) HP:0003707
4 right ventricular hypertrophy 60 33 Frequent (79-30%) HP:0001667
5 hyperlordosis 33 HP:0003307
6 macroglossia 60 Frequent (79-30%)
7 flexion contracture 33 HP:0001371
8 elevated serum creatine phosphokinase 60 Frequent (79-30%)
9 skeletal muscle atrophy 33 HP:0003202
10 achilles tendon contracture 60 Occasional (29-5%)
11 waddling gait 60 Frequent (79-30%)
12 emg: myopathic abnormalities 60 Frequent (79-30%)
13 scapular winging 60 Frequent (79-30%)
14 long face 60 Occasional (29-5%)
15 pneumonia 33 HP:0002090
16 increased variability in muscle fiber diameter 60 Frequent (79-30%)
17 neck flexor weakness 60 Occasional (29-5%)
18 upper limb muscle weakness 60 Frequent (79-30%)
19 frequent falls 60 Frequent (79-30%)
20 muscular dystrophy 33 HP:0003560
21 difficulty climbing stairs 60 Frequent (79-30%)
22 difficulty running 60 Frequent (79-30%)
23 calf muscle hypertrophy 60 Frequent (79-30%)
24 increased endomysial connective tissue 60 Frequent (79-30%)
25 restrictive ventilatory defect 33 HP:0002091
26 lumbar hyperlordosis 60 Frequent (79-30%)
27 abnormality of macrophages 60 Frequent (79-30%)
28 broad-based gait 60 Frequent (79-30%)
29 emg: myotonic runs 60 Frequent (79-30%)
30 right ventricular dilatation 33 HP:0005133
31 tip-toe gait 60 Occasional (29-5%)
32 emg: positive sharp waves 60 Frequent (79-30%)
33 emg: myotonic discharges 60 Frequent (79-30%)
34 left ventricular systolic dysfunction 60 Occasional (29-5%)
35 muscle fiber necrosis 33 HP:0003713
36 elevated serum creatine kinase 33 HP:0003236

Symptoms via clinical synopsis from OMIM:

58
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
Sources

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

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Drugs for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 13)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Lisinopril Approved, Investigational Phase 2, Phase 3 83915-83-7, 76547-98-3 5362119
2
Coenzyme Q10 Approved, Investigational, Nutraceutical Phase 2, Phase 3 303-98-0 5281915
3 Antihypertensive Agents Phase 2, Phase 3
4 Nutrients Phase 2, Phase 3
5 HIV Protease Inhibitors Phase 2, Phase 3
6
protease inhibitors Phase 2, Phase 3
7 Angiotensin-Converting Enzyme Inhibitors Phase 2, Phase 3
8 Cardiotonic Agents Phase 2, Phase 3
9 Trace Elements Phase 2, Phase 3
10 Vitamins Phase 2, Phase 3
11 Protective Agents Phase 2, Phase 3
12 Ubiquinone Phase 2, Phase 3
13 Micronutrients Phase 2, Phase 3

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Clinical Trial of Coenzyme Q10 and Lisinopril in Muscular Dystrophies Completed NCT01126697 Phase 2, Phase 3 Coenzyme Q10 and Lisinopril
2 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

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

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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 30 SGCG
Sources

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

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

42
Heart, Tongue, Lung, Skeletal Muscle
Sources

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

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

(show all 27)
# Title Authors Year
1
Severe murine limb-girdle muscular dystrophy type 2C pathology is diminished by FTY720 treatment. ( 27935071 )
2017
2
A slowly progressive form of limb-girdle muscular dystrophy type 2C associated with founder mutation in the SGCG gene in Puerto Rican Hispanics. ( 25802879 )
2015
3
Carrier frequency of the c.525delT mutation in the SGCG gene and estimated prevalence of limb girdle muscular dystrophy type 2C among the Moroccan population. ( 24552312 )
2014
4
Histopathological and genetic features of patients with limb girdle muscular dystrophy type 2C. ( 24638197 )
2014
5
A phase I trial of adeno-associated virus serotype 1-γ-sarcoglycan gene therapy for limb girdle muscular dystrophy type 2C. ( 22240777 )
2012
6
Impact of single-nucleotide polymorphisms at the TP53-binding and responsive promoter region of BCL2 gene in modulating the phenotypic variability of LGMD2C patients. ( 22367371 )
2012
7
Low incidence of limb-girdle muscular dystrophy type 2C revealed by a mutation study in Japanese patients clinically diagnosed with DMD. ( 20350330 )
2010
8
Homozygous contiguous gene deletion of 13q12 causing LGMD2C and ARSACS in the same patient. ( 19208398 )
2009
9
A novel mutation in two families with limb-girdle muscular dystrophy type 2C. ( 16832103 )
2006
10
Novel mutations in three patients with LGMD2C with phenotypic differences. ( 15087111 )
2004
11
Mutation history of the roma/gypsies. ( 15322984 )
2004
12
C283Y gamma-sarcoglycan gene mutation in the Bulgarian Roma (Gypsy) population: prevalence study and carrier screening in a high-risk community. ( 15479193 )
2004
13
Intrafamilial phenotypic variation in limb-girdle muscular dystrophy type 2C with compound heterozygous mutations. ( 10797406 )
2000
14
Evaluation of heart involvement in gamma-sarcoglycanopathy (LGMD2C). A study of ten patients. ( 11053682 )
2000
15
Private beta- and gamma-sarcoglycan gene mutations: evidence of a founder effect in Northern Italy. ( 10874299 )
2000
16
Molecular and genetic characterization of sarcospan: insights into sarcoglycan-sarcospan interactions. ( 10942431 )
2000
17
Calcium homeostasis and ultrastructural studies in a patient with limb girdle muscular dystrophy type 2C. ( 10417666 )
1999
18
C283Y mutation and other C-terminal nucleotide changes in the gamma-sarcoglycan gene in the Bulgarian Gypsy population. ( 10447257 )
1999
19
Severe limb girdle muscular dystrophy in Spanish gypsies: further evidence for a founder mutation in the gamma-sarcoglycan gene. ( 9781048 )
1998
20
Prenatal diagnosis of limb-girdle muscular dystrophy type 2C. ( 9885023 )
1998
21
Mutations that disrupt the carboxyl-terminus of gamma-sarcoglycan cause muscular dystrophy. ( 8923014 )
1996
22
A founder mutation in the gamma-sarcoglycan gene of gypsies possibly predating their migration out of India. ( 8968757 )
1996
23
Estimate of severe autosomal recessive limb-girdle muscular dystrophy (LGMD2C, LGMD2D) among sporadic muscular dystrophy males: a study of 415 familes. ( 8825917 )
1995
24
A YAC contig and an EST map in the pericentromeric region of chromosome 13 surrounding the loci for neurosensory nonsyndromic deafness (DFNB1 and DFNA3) and limb-girdle muscular dystrophy type 2C (LGMD2C). ( 8530067 )
1995
25
Evidence for linkage disequilibrium in chromosome 13-linked Duchenne-like muscular dystrophy (LGMD2C) ( 7668303 )
1995
26
Mutations in the dystrophin-associated protein gamma-sarcoglycan in chromosome 13 muscular dystrophy. ( 7481775 )
1995
27
Linkage of Tunisian autosomal recessive Duchenne-like muscular dystrophy to the pericentromeric region of chromosome 13q. ( 1303286 )
1992
Sources

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

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

76
# 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

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

6 (show top 50) (show all 159)
# Gene Variation Type Significance SNP ID Assembly Location
1 SGCG SGCG, 1-BP DEL, 525T deletion Pathogenic
2 SGCG SGCG, 2-BP DEL, 801TC deletion Pathogenic
3 SGCG NM_000231.2(SGCG): c.848G> A (p.Cys283Tyr) single nucleotide variant Pathogenic/Likely pathogenic rs104894422 GRCh37 Chromosome 13, 23898652: 23898652
4 SGCG NM_000231.2(SGCG): c.848G> A (p.Cys283Tyr) single nucleotide variant Pathogenic/Likely pathogenic rs104894422 GRCh38 Chromosome 13, 23324513: 23324513
5 SGCG SGCG, 2-BP DEL, 793TG deletion Pathogenic
6 SGCG SGCG, 1-BP INS, 87T insertion Pathogenic
7 SGCG NM_000231.2(SGCG): c.787G> A (p.Glu263Lys) single nucleotide variant Pathogenic/Likely pathogenic rs104894423 GRCh37 Chromosome 13, 23898591: 23898591
8 SGCG NM_000231.2(SGCG): c.787G> A (p.Glu263Lys) single nucleotide variant Pathogenic/Likely pathogenic rs104894423 GRCh38 Chromosome 13, 23324452: 23324452
9 SGCG NM_000231.2(SGCG): c.787G> A (p.Glu263Lys) single nucleotide variant Pathogenic/Likely pathogenic rs104894423 NCBI36 Chromosome 13, 22796591: 22796591
10 SACS; SGCG NM_000231.2(SGCG): c.*13C> T single nucleotide variant Benign/Likely benign rs9510701 GRCh37 Chromosome 13, 23898693: 23898693
11 SACS; SGCG NM_000231.2(SGCG): c.*13C> T single nucleotide variant Benign/Likely benign rs9510701 GRCh38 Chromosome 13, 23324554: 23324554
12 SGCG NM_000231.2(SGCG): c.228T> C (p.Asp76=) single nucleotide variant Benign/Likely benign rs1800350 GRCh37 Chromosome 13, 23808782: 23808782
13 SGCG NM_000231.2(SGCG): c.228T> C (p.Asp76=) single nucleotide variant Benign/Likely benign rs1800350 GRCh38 Chromosome 13, 23234643: 23234643
14 SGCG NM_000231.2(SGCG): c.312T> G (p.Leu104=) single nucleotide variant Benign rs1800351 GRCh37 Chromosome 13, 23824783: 23824783
15 SGCG NM_000231.2(SGCG): c.312T> G (p.Leu104=) single nucleotide variant Benign rs1800351 GRCh38 Chromosome 13, 23250644: 23250644
16 SGCG NM_000231.2(SGCG): c.347G> A (p.Arg116His) single nucleotide variant Benign/Likely benign rs17314986 GRCh37 Chromosome 13, 23824818: 23824818
17 SGCG NM_000231.2(SGCG): c.347G> A (p.Arg116His) single nucleotide variant Benign/Likely benign rs17314986 GRCh38 Chromosome 13, 23250679: 23250679
18 SACS; SGCG NM_000231.2(SGCG): c.705T> C (p.Leu235=) single nucleotide variant Benign/Likely benign rs1800353 GRCh37 Chromosome 13, 23898509: 23898509
19 SACS; SGCG NM_000231.2(SGCG): c.705T> C (p.Leu235=) single nucleotide variant Benign/Likely benign rs1800353 GRCh38 Chromosome 13, 23324370: 23324370
20 SGCG NM_000231.2(SGCG): c.196-6195C> T single nucleotide variant Likely benign rs207473592 GRCh37 Chromosome 13, 23802555: 23802555
21 SGCG NM_000231.2(SGCG): c.196-6195C> T single nucleotide variant Likely benign rs207473592 GRCh38 Chromosome 13, 23228416: 23228416
22 SGCG NM_000231.2(SGCG): c.435C> T (p.Asn145=) single nucleotide variant Benign rs35628352 GRCh37 Chromosome 13, 23853547: 23853547
23 SGCG NM_000231.2(SGCG): c.435C> T (p.Asn145=) single nucleotide variant Benign rs35628352 GRCh38 Chromosome 13, 23279408: 23279408
24 SGCG NM_000231.2(SGCG): c.525delT (p.Phe175Leufs) deletion Pathogenic rs786204786 GRCh37 Chromosome 13, 23869573: 23869573
25 SGCG NM_000231.2(SGCG): c.525delT (p.Phe175Leufs) deletion Pathogenic rs786204786 GRCh38 Chromosome 13, 23295434: 23295434
26 SGCG NM_000231.2(SGCG): c.735dupC (p.Lys246Glnfs) duplication Pathogenic rs797044783 GRCh37 Chromosome 13, 23898539: 23898539
27 SGCG NM_000231.2(SGCG): c.735dupC (p.Lys246Glnfs) duplication Pathogenic rs797044783 GRCh38 Chromosome 13, 23324400: 23324400
28 SGCG NM_000231.2(SGCG): c.195+4_195+7delAGTA deletion Pathogenic/Likely pathogenic rs797045106 GRCh37 Chromosome 13, 23778032: 23778035
29 SGCG NM_000231.2(SGCG): c.195+4_195+7delAGTA deletion Pathogenic/Likely pathogenic rs797045106 GRCh38 Chromosome 13, 23203893: 23203896
30 SGCG NM_000231.2(SGCG): c.690T> A (p.Ser230Arg) single nucleotide variant Pathogenic rs875989949 GRCh37 Chromosome 13, 23894887: 23894887
31 SGCG NM_000231.2(SGCG): c.690T> A (p.Ser230Arg) single nucleotide variant Pathogenic rs875989949 GRCh38 Chromosome 13, 23320748: 23320748
32 SGCG NM_000231.2(SGCG): c.860G> A (p.Ser287Asn) single nucleotide variant Benign rs1800354 GRCh38 Chromosome 13, 23324525: 23324525
33 SGCG NM_000231.2(SGCG): c.860G> A (p.Ser287Asn) single nucleotide variant Benign rs1800354 GRCh37 Chromosome 13, 23898664: 23898664
34 SGCG NM_000231.2(SGCG): c.*10G> A single nucleotide variant Conflicting interpretations of pathogenicity rs139369964 GRCh37 Chromosome 13, 23898690: 23898690
35 SGCG NM_000231.2(SGCG): c.*10G> A single nucleotide variant Conflicting interpretations of pathogenicity rs139369964 GRCh38 Chromosome 13, 23324551: 23324551
36 SGCG NM_000231.2(SGCG): c.581T> C (p.Leu194Ser) single nucleotide variant Pathogenic/Likely pathogenic rs547818652 GRCh37 Chromosome 13, 23894778: 23894778
37 SGCG NM_000231.2(SGCG): c.581T> C (p.Leu194Ser) single nucleotide variant Pathogenic/Likely pathogenic rs547818652 GRCh38 Chromosome 13, 23320639: 23320639
38 SGCG NM_000231.2(SGCG): c.507G> T (p.Gly169=) single nucleotide variant Conflicting interpretations of pathogenicity rs199905729 GRCh37 Chromosome 13, 23869555: 23869555
39 SGCG NM_000231.2(SGCG): c.507G> T (p.Gly169=) single nucleotide variant Conflicting interpretations of pathogenicity rs199905729 GRCh38 Chromosome 13, 23295416: 23295416
40 SGCG NM_000231.2(SGCG): c.195+1G> C single nucleotide variant Pathogenic/Likely pathogenic rs200502077 GRCh37 Chromosome 13, 23778029: 23778029
41 SGCG NM_000231.2(SGCG): c.195+1G> C single nucleotide variant Pathogenic/Likely pathogenic rs200502077 GRCh38 Chromosome 13, 23203890: 23203890
42 SGCG NM_000231.2(SGCG): c.803C> T (p.Pro268Leu) single nucleotide variant Uncertain significance rs143110015 GRCh37 Chromosome 13, 23898607: 23898607
43 SGCG NM_000231.2(SGCG): c.803C> T (p.Pro268Leu) single nucleotide variant Uncertain significance rs143110015 GRCh38 Chromosome 13, 23324468: 23324468
44 SGCG NM_000231.2(SGCG): c.235C> T (p.Arg79Cys) single nucleotide variant Uncertain significance rs148404730 GRCh37 Chromosome 13, 23808789: 23808789
45 SGCG NM_000231.2(SGCG): c.235C> T (p.Arg79Cys) single nucleotide variant Uncertain significance rs148404730 GRCh38 Chromosome 13, 23234650: 23234650
46 SGCG NM_000231.2(SGCG): c.596G> A (p.Arg199Gln) single nucleotide variant Uncertain significance rs200191311 GRCh37 Chromosome 13, 23894793: 23894793
47 SGCG NM_000231.2(SGCG): c.596G> A (p.Arg199Gln) single nucleotide variant Uncertain significance rs200191311 GRCh38 Chromosome 13, 23320654: 23320654
48 SGCG NM_000231.2(SGCG): c.832G> A (p.Gly278Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs147820869 GRCh37 Chromosome 13, 23898636: 23898636
49 SGCG NM_000231.2(SGCG): c.832G> A (p.Gly278Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs147820869 GRCh38 Chromosome 13, 23324497: 23324497
50 SGCG NM_000231.2(SGCG): c.326A> G (p.Gln109Arg) single nucleotide variant Uncertain significance rs201514102 GRCh37 Chromosome 13, 23824797: 23824797

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

7
# CNVD ID Chromosom 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
Sources

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

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

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

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Sources

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

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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