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MDDGC5
MCID: MSC036
MIFTS: 64

Muscular Dystrophy-Dystroglycanopathy , Type C, 5 (MDDGC5)

Categories: Eye diseases, Fetal diseases, Genetic diseases, Mental diseases, Metabolic diseases, Muscle diseases, Neuronal diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
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Aliases & Classifications for Muscular Dystrophy-Dystroglycanopathy , Type C, 5

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MalaCards integrated aliases for Muscular Dystrophy-Dystroglycanopathy , Type C, 5:

Name: Muscular Dystrophy-Dystroglycanopathy , Type C, 5 56 52 73 13
Lgmd2i 56 12 52 58 73 54
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2i 12 52 58 15
Limb-Girdle Muscular Dystrophy Due to Fkrp Deficiency 12 52 58
Mddgc5 56 12 73
Muscular Dystrophy-Dystroglycanopathy Limb-Girdle Frkp-Related 12 73
Limb-Girdle Muscular Dystrophy-Dystroglycanopathy, Type C5 29 6
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 9 56 73
Fkrp-Related Limb-Girdle Muscular Dystrophy R9 52 58
Muscular Dystrophy, Limb-Girdle, Type 2i 56 71
Limb-Girdle Muscular Dystrophy Type 2i 52 73
Lgmdr9 56 73
Muscular Dystrophy-Dystroglycanopathy, Limb-Girdle, Frkp-Related 56
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 9; Lgmdr9 56
Muscular Dystrophy-Dystroglycanopathy Limb-Girdle C5 73
Muscular Dystrophy, Limb-Girdle, Type 2i; Lgmd2i 56
Muscular Dystrophy-Dystroglycanopathy Type C 5 12
Dystrophy, Muscular, Limb-Girdle, Type 2i 39
Muscular Dystrophy Limb-Girdle Type 2i 12

Characteristics:

Orphanet epidemiological data:

58
fkrp-related limb-girdle muscular dystrophy r9
Inheritance: Autosomal recessive; Age of onset: Adolescent,Adult,Childhood,Infancy;

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
variable severity
some patients become wheelchair-bound
variable age of onset (range 1-40 years)
most common mutation is leu276ile


HPO:

31
muscular dystrophy-dystroglycanopathy , type c, 5:
Inheritance autosomal recessive inheritance
Onset and clinical course variable expressivity


Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Metabolic diseases Fetal diseases
Anatomical: Neuronal diseases Muscle diseases Eye diseases Mental diseases
See all MalaCards categories (disease lists)
ICD10: 32 33
Orphanet: 58  
Rare neurological diseases
Inborn errors of metabolism


External Ids:

Disease Ontology 12 DOID:0110299
OMIM 56 607155
OMIM Phenotypic Series 56 PS253600 PS609308
MeSH 43 D049288
ICD10 32 G71.0
ICD10 via Orphanet 33 G71.0
UMLS via Orphanet 72 C1846672
Orphanet 58 ORPHA34515
MedGen 41 C1846672
UMLS 71 C1846672
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Summaries for Muscular Dystrophy-Dystroglycanopathy , Type C, 5

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NIH Rare Diseases : 52 Limb-girdle muscular dystrophy type 2I (LGMD2I) is a form of limb-girdle muscular dystrophy , which refers to a group of conditions that cause weakness and wasting of the muscles in the arms and legs. The proximal muscles (those closest to the body such as the upper arms and thighs) are generally most affected by the condition. In LGMD2I, specifically, signs and symptoms often develop in late childhood (average age 11.5 years) and may include difficulty running and walking. The symptoms gradually worsen overtime and affected people generally rely on a wheelchair for mobility approximately 23-26 years after onset. LGMD2I is caused by changes (mutations ) in the FKRP gene and is inherited in an autosomal recessive manner. There is, unfortunately, no cure for LGMD2I and treatment is based on the signs and symptoms present in each person.

MalaCards based summary : Muscular Dystrophy-Dystroglycanopathy , Type C, 5, also known as lgmd2i, is related to dysferlinopathy and myositis, and has symptoms including myalgia, waddling gait and muscle cramp. An important gene associated with Muscular Dystrophy-Dystroglycanopathy , Type C, 5 is FKRP (Fukutin Related Protein), and among its related pathways/superpathways are Dilated cardiomyopathy (DCM) and Arrhythmogenic right ventricular cardiomyopathy (ARVC). The drugs Lisinopril and Deflazacort have been mentioned in the context of this disorder. Affiliated tissues include brain, skeletal muscle and heart, and related phenotypes are proximal muscle weakness and muscular dystrophy

Disease Ontology : 12 An autosomal recessive limb-girdle muscular dystrophy that has material basis in homozygous or compound heterozygous mutation in the gene encoding fukutin-related protein (FKRP) on chromosome 19q13.3.

OMIM : 56 MDGDC5 is an autosomal recessive muscular dystrophy characterized by variable age at onset, normal cognition, and no structural brain changes (Brockington et al., 2001). It is part of a group of similar disorders resulting from defective glycosylation of alpha-dystroglycan (DAG1; 128239), collectively known as 'dystroglycanopathies' (Mercuri et al., 2006). For a discussion of genetic heterogeneity of muscular dystrophy-dystroglycanopathy type C, see MDDGC1 (609308). (607155)

UniProtKB/Swiss-Prot : 73 Muscular dystrophy-dystroglycanopathy limb-girdle C5: An autosomal recessive degenerative myopathy with age of onset ranging from childhood to adult life, and variable severity. Clinical features include proximal muscle weakness, waddling gait, calf hypertrophy, cardiomyopathy and respiratory insufficiency. A reduction of alpha- dystroglycan and laminin alpha-2 expression can be observed on skeletal muscle biopsy from MDDGC5 patients.

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Related Diseases for Muscular Dystrophy-Dystroglycanopathy , Type C, 5

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Diseases in the Muscular Dystrophy-Dystroglycanopathy family:

Muscular Dystrophy-Dystroglycanopathy , Type a, 1 Muscular Dystrophy-Dystroglycanopathy , Type a, 3
Muscular Dystrophy-Dystroglycanopathy , Type a, 4 Muscular Dystrophy-Dystroglycanopathy , Type B, 5
Muscular Dystrophy-Dystroglycanopathy , Type C, 5 Muscular Dystrophy-Dystroglycanopathy , Type B, 6
Muscular Dystrophy-Dystroglycanopathy , Type C, 1 Muscular Dystrophy-Dystroglycanopathy , Type C, 4
Muscular Dystrophy-Dystroglycanopathy , Type C, 15 Muscular Dystrophy-Dystroglycanopathy , Type a, 2
Muscular Dystrophy-Dystroglycanopathy , Type B, 3 Muscular Dystrophy-Dystroglycanopathy , Type B, 4
Muscular Dystrophy-Dystroglycanopathy , Type a, 5 Muscular Dystrophy-Dystroglycanopathy , Type a, 6
Muscular Dystrophy-Dystroglycanopathy , Type B, 1 Muscular Dystrophy-Dystroglycanopathy , Type B, 2
Muscular Dystrophy-Dystroglycanopathy , Type C, 3 Muscular Dystrophy-Dystroglycanopathy , Type C, 2
Muscular Dystrophy-Dystroglycanopathy , Type C, 9 Muscular Dystrophy-Dystroglycanopathy , Type a, 7
Muscular Dystrophy-Dystroglycanopathy , Type a, 8 Muscular Dystrophy-Dystroglycanopathy , Type a, 10
Muscular Dystrophy-Dystroglycanopathy , Type a, 11 Muscular Dystrophy-Dystroglycanopathy , Type a, 12
Muscular Dystrophy-Dystroglycanopathy , Type a, 13 Muscular Dystrophy-Dystroglycanopathy , Type a, 14
Muscular Dystrophy-Dystroglycanopathy , Type B, 14 Muscular Dystrophy-Dystroglycanopathy , Type C, 14
Muscular Dystrophy-Dystroglycanopathy , Type C, 7 Muscular Dystrophy-Dystroglycanopathy , Type C, 12
Muscular Dystrophy-Dystroglycanopathy , Type a, 9 Muscular Dystrophy-Dystroglycanopathy , Type C, 8
Congenital Muscular Dystrophy-Dystroglycanopathy Type a Congenital Muscular Dystrophy-Dystroglycanopathy Type A11
Congenital Muscular Dystrophy-Dystroglycanopathy Type A8 Congenital Muscular Dystrophy-Dystroglycanopathy Type A9
Congenital Muscular Dystrophy-Dystroglycanopathy A14 Congenital Muscular Dystrophy-Dystroglycanopathy A7
Congenital Muscular Dystrophy-Dystroglycanopathy Type A12 Congenital Muscular Dystrophy-Dystroglycanopathy Type A3
Congenital Muscular Dystrophy-Dystroglycanopathy Type A1 Congenital Muscular Dystrophy-Dystroglycanopathy Type A13
Congenital Muscular Dystrophy-Dystroglycanopathy Type A10 Congenital Muscular Dystrophy-Dystroglycanopathy Type A2
Congenital Muscular Dystrophy-Dystroglycanopathy Type A5 Congenital Muscular Dystrophy-Dystroglycanopathy Type A6

Diseases related to Muscular Dystrophy-Dystroglycanopathy , Type C, 5 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 98)
# Related Disease Score Top Affiliating Genes
1 dysferlinopathy 31.2 DYSF CAPN3
2 myositis 30.6 TTN DYSF CHKB CAPN3
3 muscular dystrophy, limb-girdle, autosomal recessive 8 29.9 TTN TRIM32 TCAP FKRP DYSF CAPN3
4 atrial standstill 1 29.8 TTN TCAP SGCA FKRP
5 neuromuscular disease 28.8 TTN TCAP LAMA2 FKRP DYSF DAG1
6 muscular dystrophy-dystroglycanopathy , type b, 5 28.4 POMT2 POMT1 POMGNT2 POMGNT1 LAMA2 FKTN
7 myopathy 28.4 TTN TRIM32 TCAP SGCA LAMA2 FKRP
8 muscular dystrophy-dystroglycanopathy , type a, 1 28.1 POMT2 POMT1 POMGNT2 POMGNT1 LAMA2 FKTN
9 muscle eye brain disease 27.9 SGCA POMT2 POMT1 POMGNT2 POMGNT1 FKTN
10 muscular dystrophy, becker type 27.8 TTN SGCG SGCA LAMA2 FKTN FKRP
11 dilated cardiomyopathy 27.3 TTN TCAP SGCG SGCA LAMA2 FKTN
12 muscular dystrophy, congenital, lmna-related 26.8 TTN POMT2 POMT1 POMGNT2 POMGNT1 LAMA2
13 limb-girdle muscular dystrophy 26.4 TTN TRIM32 TCAP SGCG SGCA POMT1
14 walker-warburg syndrome 26.1 SGCG SGCA POMT2 POMT1 POMGNT2 POMGNT1
15 muscular dystrophy 25.0 TTN TRIM32 TCAP SGCG SGCA POMT2
16 muscular disease 25.0 TTN TRIM32 TCAP SGCG SGCA POMT2
17 autosomal recessive limb-girdle muscular dystrophy 24.8 TTN TRIM32 TCAP SGCG SGCA POMT2
18 muscular atrophy 10.6
19 heart disease 10.4
20 congestive heart failure 10.4
21 lung disease 10.4
22 congenital muscular dystrophy due to dystroglycanopathy 10.4
23 qualitative or quantitative defects of dysferlin 10.4
24 qualitative or quantitative defects of alpha-dystroglycan 10.4
25 paresthesia 10.4 FKRP CAPN3
26 polyglucosan body myopathy 1 with or without immunodeficiency 10.4 FKRP CAPN3
27 rippling muscle disease 2 10.3 FKRP DYSF
28 emery-dreifuss muscular dystrophy 2, autosomal dominant 10.3 FKRP DYSF CAPN3
29 myopathy, spheroid body 10.2 TRIM32 TCAP
30 muscular dystrophy, congenital, megaconial type 10.2 LAMA2 CHKB
31 congenital fiber-type disproportion 10.1 TTN LAMA2 DYSF
32 myopathy, congenital 10.1 TTN DYSF CHKB
33 muscular dystrophy, limb-girdle, autosomal recessive 1 10.1
34 dystrophinopathies 10.1
35 qualitative or quantitative defects of dystrophin 10.1
36 familial isolated dilated cardiomyopathy 10.1 TTN TCAP FKTN
37 reducing body myopathy 10.1 TTN TCAP
38 congenital muscular dystrophy without intellectual disability 10.1 POMT1 FKTN FKRP
39 malignant hyperthermia 10.1 LAMA2 DYSF CHKB
40 autosomal recessive limb-girdle muscular dystrophy type 2x 10.1 DYSF ANO5
41 cardiomyopathy, dilated, 3b 10.0 SGCA DYSF
42 muscular dystrophy, congenital, due to integrin alpha-7 deficiency 10.0 LAMA2 DAG1
43 periventricular nodular heterotopia 10.0 POMGNT2 POMGNT1 FKRP
44 miyoshi muscular dystrophy 3 10.0 DYSF CAPN3 ANO5
45 autosomal recessive limb-girdle muscular dystrophy type 2q 10.0 TCAP DYSF ANO5
46 congenital muscular dystrophy with intellectual disability 9.9 POMT2 POMT1 FKRP
47 isolated elevated serum creatine phosphokinase levels 9.9 TCAP LAMA2 ANO5
48 cerebral degeneration 9.9 POMT1 POMGNT1 FKTN
49 facioscapulohumeral muscular dystrophy 1 9.9 TTN LAMA2 FKRP DYSF CAPN3
50 autosomal recessive limb-girdle muscular dystrophy type 2w 9.9 POMT2 ANO5

Graphical network of the top 20 diseases related to Muscular Dystrophy-Dystroglycanopathy , Type C, 5:



Diseases related to Muscular Dystrophy-Dystroglycanopathy , Type C, 5
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Symptoms & Phenotypes for Muscular Dystrophy-Dystroglycanopathy , Type C, 5

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Human phenotypes related to Muscular Dystrophy-Dystroglycanopathy , Type C, 5:

58 31 (show all 34)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 proximal muscle weakness 58 31 hallmark (90%) Very frequent (99-80%) HP:0003701
2 muscular dystrophy 58 31 hallmark (90%) Very frequent (99-80%) HP:0003560
3 reduced muscle fiber alpha dystroglycan 58 31 hallmark (90%) Very frequent (99-80%) HP:0030099
4 elevated serum creatine kinase 31 hallmark (90%) HP:0003236
5 generalized hypotonia 58 31 frequent (33%) Frequent (79-30%) HP:0001290
6 waddling gait 58 31 frequent (33%) Frequent (79-30%) HP:0002515
7 pelvic girdle muscle weakness 58 31 frequent (33%) Frequent (79-30%) HP:0003749
8 calf muscle hypertrophy 58 31 frequent (33%) Frequent (79-30%) HP:0008981
9 abnormality of the achilles tendon 58 31 frequent (33%) Frequent (79-30%) HP:0005109
10 shoulder girdle muscle weakness 58 31 frequent (33%) Frequent (79-30%) HP:0003547
11 scoliosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002650
12 dilated cardiomyopathy 58 31 occasional (7.5%) Occasional (29-5%) HP:0001644
13 motor delay 58 31 occasional (7.5%) Occasional (29-5%) HP:0001270
14 frequent falls 58 31 occasional (7.5%) Occasional (29-5%) HP:0002359
15 difficulty climbing stairs 58 31 occasional (7.5%) Occasional (29-5%) HP:0003551
16 difficulty running 58 31 occasional (7.5%) Occasional (29-5%) HP:0009046
17 reduced muscle fiber merosin 58 31 occasional (7.5%) Occasional (29-5%) HP:0030092
18 exercise-induced myoglobinuria 31 very rare (1%) HP:0008305
19 kyphosis 31 HP:0002808
20 hyperlordosis 31 HP:0003307
21 macroglossia 31 HP:0000158
22 elevated serum creatine phosphokinase 58 Very frequent (99-80%)
23 myalgia 31 HP:0003326
24 achilles tendon contracture 31 HP:0001771
25 toe walking 31 HP:0040083
26 difficulty walking 31 HP:0002355
27 vertebral fusion 31 HP:0002948
28 congenital muscular dystrophy 31 HP:0003741
29 nocturnal hypoventilation 31 HP:0002877
30 restrictive deficit on pulmonary function testing 31 HP:0002111
31 left ventricular dysfunction 31 HP:0005162
32 thigh hypertrophy 31 HP:0003733
33 muscle spasm 31 HP:0003394
34 reduced forced vital capacity 31 HP:0032341

Symptoms via clinical synopsis from OMIM:

56
Skeletal Spine:
scoliosis
kyphosis
lordosis
spinal fusion

Cardiovascular Heart:
dilated cardiomyopathy
left ventricular impairment

Laboratory Abnormalities:
increased serum creatine kinase
myoglobinuria, particularly after physical exertion (25% of patients)

Head And Neck Mouth:
tongue hypertrophy

Muscle Soft Tissue:
myalgia
waddling gait
muscle cramps
difficulty walking
proximal muscle weakness
more
Respiratory Lung:
nocturnal hypoventilation
decreased forced vital capacity
restrictive respiratory insufficiency

Skeletal Feet:
achilles tendon contractures

Clinical features from OMIM:

607155

UMLS symptoms related to Muscular Dystrophy-Dystroglycanopathy , Type C, 5:


myalgia, waddling gait, muscle cramp

MGI Mouse Phenotypes related to Muscular Dystrophy-Dystroglycanopathy , Type C, 5:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.22 ANO5 CHKB DAG1 DYSF FKRP FKTN
2 cellular MP:0005384 10.06 ANO5 DAG1 FKRP FKTN LAMA2 POMGNT1
3 homeostasis/metabolism MP:0005376 10.03 ANO5 CAPN3 CHKB DAG1 DYSF FKRP
4 cardiovascular system MP:0005385 10.02 CAPN3 DAG1 FKRP POMGNT1 POMT1 SGCA
5 growth/size/body region MP:0005378 10 CAPN3 DAG1 FKRP FKTN LAMA2 POMGNT1
6 muscle MP:0005369 9.83 ANO5 CAPN3 CHKB DAG1 DYSF FKRP
7 nervous system MP:0003631 9.32 CHKB DAG1 FKRP FKTN LAMA2 POMGNT1
Sources

Drugs & Therapeutics for Muscular Dystrophy-Dystroglycanopathy , Type C, 5

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Drugs for Muscular Dystrophy-Dystroglycanopathy , Type C, 5 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 18)
# 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
Deflazacort Approved, Investigational Phase 3 14484-47-0
3
Coenzyme Q10 Approved, Investigational, Nutraceutical Phase 2, Phase 3 303-98-0 5281915
4 Trace Elements Phase 2, Phase 3
5 Antihypertensive Agents Phase 2, Phase 3
6 HIV Protease Inhibitors Phase 2, Phase 3
7
protease inhibitors Phase 2, Phase 3
8 Micronutrients Phase 2, Phase 3
9 Nutrients Phase 2, Phase 3
10 Protective Agents Phase 2, Phase 3
11 Angiotensin-Converting Enzyme Inhibitors Phase 2, Phase 3
12 Ubiquinone Phase 2, Phase 3
13 Vitamins Phase 2, Phase 3
14 Anti-Inflammatory Agents Phase 3
15 Immunosuppressive Agents Phase 3
16 Immunologic Factors Phase 3
17 Tin Fluorides Phase 1, Phase 2
18 Pharmaceutical Solutions

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 PITT0908: Clinical Trial of Coenzyme Q10 and Lisinopril in Muscular Dystrophies Completed NCT01126697 Phase 2, Phase 3 Coenzyme Q10 and Lisinopril
2 A Multicenter Randomized Placebo-Controlled Phase 3 Study on the Safety and Efficacy of Deflazacort (Emflaza®) in Subjects With Limb-Girdle Muscular Dystrophy 2I (LGMD2I) Recruiting NCT03783923 Phase 3 Deflazacort;Placebo
3 A Phase 1b/2, Open-Label, Multiple Ascending Dose Study to Evaluate the Safety, Tolerability, Efficacy, Pharmacokinetics and Pharmacodynamics of PF-06252616 in Ambulatory Participants With LGMD2I Completed NCT02841267 Phase 1, Phase 2 PF 06252616
4 Muscle MRI Study of Patients With Becker Muscular Dystrophy and Limb-girdle Muscular Dystrophy Type 2I Completed NCT02165358
5 The Global FKRP Patient Registry Recruiting NCT04001595
6 Limb-Girdle Muscular Dystrophy Type 2I in Norway - a Cohort Study Recruiting NCT03930628
7 Prospective, Longitudinal Study of the Natural History and Functional Status of Patients With Limb-Girdle Muscular Dystrophy 2I Active, not recruiting NCT03842878
8 Biomarker Development in LGMD 2i Enrolling by invitation NCT04202627

Search NIH Clinical Center for Muscular Dystrophy-Dystroglycanopathy , Type C, 5

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Genetic Tests for Muscular Dystrophy-Dystroglycanopathy , Type C, 5

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Genetic tests related to Muscular Dystrophy-Dystroglycanopathy , Type C, 5:

# Genetic test Affiliating Genes
1 Limb-Girdle Muscular Dystrophy-Dystroglycanopathy, Type C5 29 FKRP
Sources

Anatomical Context for Muscular Dystrophy-Dystroglycanopathy , Type C, 5

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MalaCards organs/tissues related to Muscular Dystrophy-Dystroglycanopathy , Type C, 5:

40
Brain, Skeletal Muscle, Heart, Eye, Testes, Tongue, Cerebellum
Sources

Publications for Muscular Dystrophy-Dystroglycanopathy , Type C, 5

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Articles related to Muscular Dystrophy-Dystroglycanopathy , Type C, 5:

(show top 50) (show all 110)
# Title Authors PMID Year
1
The most common mutation in FKRP causing limb girdle muscular dystrophy type 2I (LGMD2I) may have occurred only once and is present in Hutterites and other populations. 54 61 56 6
15580560 2005
2
Limb-girdle muscular dystrophy 2I: phenotypic variability within a large consanguineous Bedouin family associated with a novel FKRP mutation. 54 61 56 6
14523375 2004
3
Asymptomatic carriers for homozygous novel mutations in the FKRP gene: the other end of the spectrum. 54 61 56 6
14647208 2003
4
Fukutin-related protein gene mutated in the original kindred limb-girdle MD 2I. 54 61 56 6
12707439 2003
5
Mutations in the fukutin-related protein gene (FKRP) identify limb girdle muscular dystrophy 2I as a milder allelic variant of congenital muscular dystrophy MDC1C. 54 61 56 6
11741828 2001
6
High prevalence and phenotype-genotype correlations of limb girdle muscular dystrophy type 2I in Denmark. 61 56 6
16634037 2006
7
Hutterite brothers both affected with two forms of limb girdle muscular dystrophy: LGMD2H and LGMD2I. 61 56 6
15886712 2005
8
Phenotypic spectrum associated with mutations in the fukutin-related protein gene. 61 56 6
12666124 2003
9
The phenotype of limb-girdle muscular dystrophy type 2I. 54 61 56
12707425 2003
10
Endurance training: an effective and safe treatment for patients with LGMD2I. 61 56
17200494 2007
11
LGMD2I presenting with a characteristic Duchenne or Becker muscular dystrophy phenotype. 61 56
15883334 2005
12
A population-based study of autosomal-recessive disease-causing mutations in a founder population. 6
22981120 2012
13
Myoglobinuria and muscle pain are common in patients with limb-girdle muscular dystrophy 2I. 56
21220724 2011
14
Spectrum of brain changes in patients with congenital muscular dystrophy and FKRP gene mutations. 56
16476814 2006
15
Cardiac and respiratory failure in limb-girdle muscular dystrophy 2I. 56
15505776 2004
16
Mutations in the FKRP gene can cause muscle-eye-brain disease and Walker-Warburg syndrome. 6
15121789 2004
17
Mutations in the fukutin-related protein gene (FKRP) cause a form of congenital muscular dystrophy with secondary laminin alpha2 deficiency and abnormal glycosylation of alpha-dystroglycan. 56
11592034 2001
18
A new locus for autosomal recessive limb-girdle muscular dystrophy in a large consanguineous Tunisian family maps to chromosome 19q13.3. 56
10838249 2000
19
Abnormal merosin in adults. A new form of late onset muscular dystrophy not linked to chromosome 6q2. 56
9577386 1998
20
Mutations alter secretion of fukutin-related protein. 54 61
19900540 2010
21
Clinical and mutational spectrum of limb-girdle muscular dystrophy type 2I in 11 French patients. 54 61
19917824 2009
22
Muscle protein alterations in LGMD2I patients with different mutations in the Fukutin-related protein gene. 54 61
18645206 2008
23
cDNA analyses of CAPN3 enhance mutation detection and reveal a low prevalence of LGMD2A patients in Denmark. 54 61
18337726 2008
24
Variable cardiac involvement in Tunisian siblings harboring FKRP gene mutations. 54 61
18671187 2008
25
Clinical, molecular, and protein correlations in a large sample of genetically diagnosed Italian limb girdle muscular dystrophy patients. 54 61
17994539 2008
26
Biochemical and ultrastructural evidence of endoplasmic reticulum stress in LGMD2I. 54 61
17952692 2007
27
LGMD2I in a North American population. 54 61
18036232 2007
28
A novel FKRP gene mutation in a Taiwanese patient with limb-girdle muscular dystrophy 2I. 54 61
17055682 2007
29
[Phenotypic aspects of FKRP-linked muscular dystrophy type 2I in a series of eleven patients]. 54 61
17351538 2007
30
Mutation analysis in the FKRP gene provides an explanation for a rare cause of intrafamilial clinical variability in LGMD2I. 54 61
17113772 2006
31
LGMD 2I due to the common mutation 826C>A in the FKRP gene presenting as myopathy with vacuoles and paired-helical filaments. 54 61
18593008 2006
32
Cardiac involvement in limb-girdle muscular dystrophy 2I : conventional cardiac diagnostic and cardiovascular magnetic resonance. 54 61
16786213 2006
33
Sub-cellular localisation of fukutin related protein in different cell lines and in the muscle of patients with MDC1C and LGMD2I. 54 61
16288869 2005
34
Mutated fukutin-related protein (FKRP) localises as wild type in differentiated muscle cells. 54 61
16055117 2005
35
Dilated cardiomyopathy may be an early sign of the C826A Fukutin-related protein mutation. 54 61
15833432 2005
36
Diagnostic value of muscle MRI in differentiating LGMD2I from other LGMDs. 54 61
15726252 2005
37
LGMD2A: genotype-phenotype correlations based on a large mutational survey on the calpain 3 gene. 54 61
15689361 2005
38
Fukutin-related protein mutations that cause congenital muscular dystrophy result in ER-retention of the mutant protein in cultured cells. 54 61
15574464 2005
39
[Limb girdle muscular dystrophies]. 54 61
15316618 2004
40
[The clinical spectrum of limb-girdle muscular dystrophies type 2I in cases of a mutation in the "fukutin-related- protein"-gene]. 54 61
15221067 2004
41
Abnormalities in alpha-dystroglycan expression in MDC1C and LGMD2I muscular dystrophies. 54 61
14742276 2004
42
New FKRP mutations causing congenital muscular dystrophy associated with mental retardation and central nervous system abnormalities. Identification of a founder mutation in Tunisian families. 54 61
14652796 2004
43
Molecular bases of autosomal recessive limb-girdle muscular dystrophies. 54 61
14959561 2003
44
FKRP gene mutations cause congenital muscular dystrophy, mental retardation, and cerebellar cysts. 54 61
12654965 2003
45
Functional requirements for fukutin-related protein in the Golgi apparatus. 54 61
12471058 2002
46
Value of muscle magnetic resonance imaging in the differential diagnosis of muscular dystrophies related to the dystrophin-glycoprotein complex. 61
31747956 2019
47
Demembranated skeletal and cardiac fibers produce less force with altered cross-bridge kinetics in a mouse model for limb-girdle muscular dystrophy 2i. 61
31091146 2019
48
Autosomal recessive limb-girdle and Miyoshi muscular dystrophies in the Netherlands: The clinical and molecular spectrum of 244 patients. 61
30919934 2019
49
Advances in imaging of brain abnormalities in neuromuscular disease. 61
31105770 2019
50
A limb-girdle muscular dystrophy 2I model of muscular dystrophy identifies corrective drug compounds for dystroglycanopathies. 61
30232282 2018
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Variations for Muscular Dystrophy-Dystroglycanopathy , Type C, 5

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ClinVar genetic disease variations for Muscular Dystrophy-Dystroglycanopathy , Type C, 5:

6 (show top 50) (show all 86) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 FKRP NM_024301.5(FKRP):c.826C>A (p.Leu276Ile)SNV Pathogenic 4221 rs28937900 19:47259533-47259533 19:46756276-46756276
2 FKRP NM_024301.5(FKRP):c.387_390dup (p.Asp131delinsThrTer)duplication Pathogenic 4222 rs587777823 19:47259092-47259093 19:46755835-46755836
3 FKRP NM_024301.5(FKRP):c.1364C>A (p.Ala455Asp)SNV Pathogenic 4226 rs28937903 19:47260071-47260071 19:46756814-46756814
4 FKRP NM_024301.5(FKRP):c.764G>A (p.Trp255Ter)SNV Pathogenic 4230 rs104894689 19:47259471-47259471 19:46756214-46756214
5 FKRP NM_024301.5(FKRP):c.941C>T (p.Thr314Met)SNV Pathogenic 96115 rs398124395 19:47259648-47259648 19:46756391-46756391
6 FKRP NM_024301.5(FKRP):c.162_165dup (p.Phe56fs)duplication Pathogenic 282866 rs886042506 19:47258867-47258868 19:46755610-46755611
7 FKRP NM_024301.5(FKRP):c.675del (p.Thr226fs)deletion Pathogenic 287717 rs886043706 19:47259382-47259382 19:46756125-46756125
8 FKRP NM_024301.5(FKRP):c.-272G>ASNV Pathogenic 522865 rs1555735545 19:47249328-47249328 19:46746071-46746071
9 FKRP NM_024301.5(FKRP):c.1168_1169CG[1] (p.Gly391fs)short repeat Pathogenic 558649 rs748087383 19:47259874-47259875 19:46756617-46756618
10 FKRP NM_024301.5(FKRP):c.960_970del (p.Ala321fs)deletion Pathogenic 694028 19:47259664-47259674 19:46756407-46756417
11 FKRP NM_024301.5(FKRP):c.1141dup (p.Ala381fs)duplication Pathogenic/Likely pathogenic 556419 rs754403441 19:47259842-47259843 19:46756585-46756586
12 FKRP NM_024301.5(FKRP):c.266C>T (p.Pro89Leu)SNV Pathogenic/Likely pathogenic 551007 rs770711331 19:47258973-47258973 19:46755716-46755716
13 FKRP NM_024301.5(FKRP):c.77G>A (p.Trp26Ter)SNV Pathogenic/Likely pathogenic 556052 rs752731569 19:47258784-47258784 19:46755527-46755527
14 FKRP NM_024301.5(FKRP):c.928G>T (p.Glu310Ter)SNV Pathogenic/Likely pathogenic 550361 rs765885747 19:47259635-47259635 19:46756378-46756378
15 FKRP NM_024301.5(FKRP):c.970G>T (p.Glu324Ter)SNV Pathogenic/Likely pathogenic 289473 rs886044183 19:47259677-47259677 19:46756420-46756420
16 FKRP NM_024301.5(FKRP):c.545A>G (p.Tyr182Cys)SNV Pathogenic/Likely pathogenic 282247 rs543163491 19:47259252-47259252 19:46755995-46755995
17 FKRP NM_024301.5(FKRP):c.1343C>T (p.Pro448Leu)SNV Pathogenic/Likely pathogenic 4220 rs104894681 19:47260050-47260050 19:46756793-46756793
18 FKRP NM_024301.5(FKRP):c.899T>C (p.Val300Ala)SNV Pathogenic/Likely pathogenic 4232 rs104894691 19:47259606-47259606 19:46756349-46756349
19 FKRP NM_024301.5(FKRP):c.919T>A (p.Tyr307Asn)SNV Pathogenic/Likely pathogenic 4233 rs104894692 19:47259626-47259626 19:46756369-46756369
20 FKRP NM_024301.5(FKRP):c.1486T>A (p.Ter496Arg)SNV Pathogenic/Likely pathogenic 4223 rs104894682 19:47260193-47260193 19:46756936-46756936
21 FKRP NM_024301.5(FKRP):c.160C>T (p.Arg54Trp)SNV Likely pathogenic 4228 rs28937905 19:47258867-47258867 19:46755610-46755610
22 FKRP NM_024301.5(FKRP):c.170_186dup (p.Val63fs)duplication Likely pathogenic 553761 rs1555738149 19:47258874-47258875 19:46755617-46755618
23 FKRP NM_024301.5(FKRP):c.957_958GC[3] (p.Leu322fs)short repeat Likely pathogenic 557967 rs1555738883 19:47259664-47259665 19:46756407-46756408
24 FKRP NM_024301.5(FKRP):c.214C>T (p.Gln72Ter)SNV Likely pathogenic 555406 rs1555738201 19:47258921-47258921 19:46755664-46755664
25 FKRP NM_024301.5(FKRP):c.778G>T (p.Glu260Ter)SNV Likely pathogenic 554104 rs1555738753 19:47259485-47259485 19:46756228-46756228
26 FKRP NM_024301.5(FKRP):c.1027G>T (p.Glu343Ter)SNV Likely pathogenic 552780 rs587780334 19:47259734-47259734 19:46756477-46756477
27 FKRP NM_024301.5(FKRP):c.796del (p.Ala266fs)deletion Likely pathogenic 556745 rs1555738764 19:47259501-47259501 19:46756244-46756244
28 FKRP NM_024301.5(FKRP):c.1036T>C (p.Ser346Pro)SNV Likely pathogenic 487485 rs753811189 19:47259743-47259743 19:46756486-46756486
29 FKRP NM_024301.5(FKRP):c.267delinsAT (p.Pro90fs)indel Likely pathogenic 551850 rs1555738245 19:47258974-47258974 19:46755717-46755717
30 FKRP NM_024301.5(FKRP):c.526C>T (p.Arg176Ter)SNV Likely pathogenic 556102 rs1555738502 19:47259233-47259233 19:46755976-46755976
31 FKRP NM_024301.5(FKRP):c.566_570dup (p.Cys191fs)duplication Likely pathogenic 552782 rs1555738568 19:47259269-47259270 19:46756012-46756013
32 FKRP NM_024301.5(FKRP):c.656del (p.Gly219fs)deletion Likely pathogenic 550955 rs1555738651 19:47259361-47259361 19:46756104-46756104
33 FKRP NM_024301.5(FKRP):c.558dup (p.Ala187fs)duplication Likely pathogenic 552830 rs1191737604 19:47259260-47259261 19:46756003-46756004
34 FKRP NM_024301.5(FKRP):c.1384C>T (p.Pro462Ser)SNV Likely pathogenic 555554 rs768606230 19:47260091-47260091 19:46756834-46756834
35 FKRP NM_024301.5(FKRP):c.859_869del (p.Phe287fs)deletion Likely pathogenic 554019 rs1555738823 19:47259566-47259576 19:46756309-46756319
36 FKRP NM_024301.5(FKRP):c.225_229AGCCC[3] (p.Val79fs)short repeat Likely pathogenic 551452 rs1555738204 19:47258928-47258929 19:46755671-46755672
37 FKRP NM_024301.5(FKRP):c.345_349del (p.Arg116fs)deletion Likely pathogenic 557314 rs1555738311 19:47259051-47259055 19:46755794-46755798
38 FKRP NM_024301.5(FKRP):c.464del (p.Leu155fs)deletion Likely pathogenic 555951 rs1555738456 19:47259171-47259171 19:46755914-46755914
39 FKRP NM_024301.5(FKRP):c.686del (p.Arg229fs)deletion Likely pathogenic 554141 rs1555738686 19:47259393-47259393 19:46756136-46756136
40 FKRP NM_024301.5(FKRP):c.688_722del (p.Gly230fs)deletion Likely pathogenic 558691 rs1555738675 19:47259388-47259422 19:46756131-46756165
41 FKRP NM_024301.5(FKRP):c.931G>T (p.Glu311Ter)SNV Likely pathogenic 550827 rs1483781400 19:47259638-47259638 19:46756381-46756381
42 FKRP NM_024301.5(FKRP):c.1119del (p.Asn374fs)deletion Likely pathogenic 558082 rs1555739041 19:47259826-47259826 19:46756569-46756569
43 FKRP NM_024301.5(FKRP):c.1475del (p.Thr492fs)deletion Likely pathogenic 556566 rs1555739333 19:47260182-47260182 19:46756925-46756925
44 FKRP NM_024301.5(FKRP):c.1364C>T (p.Ala455Val)SNV Likely pathogenic 800947 19:47260071-47260071 19:46756814-46756814
45 FKRP NM_024301.5(FKRP):c.823C>T (p.Arg275Cys)SNV Conflicting interpretations of pathogenicity 498269 rs1247934219 19:47259530-47259530 19:46756273-46756273
46 FKRP NM_024301.5(FKRP):c.1433T>C (p.Ile478Thr)SNV Conflicting interpretations of pathogenicity 528825 rs1301397800 19:47260140-47260140 19:46756883-46756883
47 FKRP NM_024301.5(FKRP):c.341C>G (p.Ala114Gly)SNV Conflicting interpretations of pathogenicity 96108 rs143793528 19:47259048-47259048 19:46755791-46755791
48 FKRP NM_024301.5(FKRP):c.483C>T (p.Ala161=)SNV Conflicting interpretations of pathogenicity 211007 rs797045576 19:47259190-47259190 19:46755933-46755933
49 FKRP NM_024301.5(FKRP):c.696G>T (p.Ala232=)SNV Conflicting interpretations of pathogenicity 96114 rs398124394 19:47259403-47259403 19:46756146-46756146
50 FKRP NM_024301.5(FKRP):c.582G>A (p.Leu194=)SNV Conflicting interpretations of pathogenicity 241458 rs771223960 19:47259289-47259289 19:46756032-46756032

UniProtKB/Swiss-Prot genetic disease variations for Muscular Dystrophy-Dystroglycanopathy , Type C, 5:

73 (show all 19)
# Symbol AA change Variation ID SNP ID
1 FKRP p.Arg143Ser VAR_018282 rs148206382
2 FKRP p.Leu276Ile VAR_018285 rs28937900
3 FKRP p.Arg312Cys VAR_018287
4 FKRP p.Pro316Arg VAR_018289 rs752582904
5 FKRP p.Arg339Leu VAR_018291 rs145084112
6 FKRP p.Arg54Trp VAR_019272 rs28937905
7 FKRP p.Tyr307Asn VAR_022850 rs104894692
8 FKRP p.Pro316Ser VAR_022851 rs28937901
9 FKRP p.Asp360Asn VAR_022853 rs770195088
10 FKRP p.Pro462Ser VAR_022856 rs768606230
11 FKRP p.Val79Met VAR_065055 rs104894683
12 FKRP p.Arg134Trp VAR_065056 rs104894690
13 FKRP p.Val160Phe VAR_065057
14 FKRP p.Tyr182Cys VAR_065058 rs543163491
15 FKRP p.Thr293Ile VAR_065059
16 FKRP p.Val300Ala VAR_065060 rs104894691
17 FKRP p.Val300Met VAR_065061 rs563033008
18 FKRP p.Pro358Leu VAR_065062 rs143031195
19 FKRP p.Thr314Met VAR_081096 rs398124395

Sources

Expression for Muscular Dystrophy-Dystroglycanopathy , Type C, 5

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Search GEO for disease gene expression data for Muscular Dystrophy-Dystroglycanopathy , Type C, 5.
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Pathways for Muscular Dystrophy-Dystroglycanopathy , Type C, 5

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Pathways related to Muscular Dystrophy-Dystroglycanopathy , Type C, 5 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Dilated cardiomyopathy (DCM) 36
Show member pathways
 11.82 TTN SGCG SGCA LAMA2 DAG1
2
Arrhythmogenic right ventricular cardiomyopathy (ARVC) 36
Show member pathways
 11.74 SGCG SGCA LAMA2 DAG1
3
O-linked glycosylation 65
Show member pathways
 11.62 POMT2 POMT1 POMGNT2 POMGNT1 DAG1
4
Muscular Dystrophies and Dystrophin-Glycoprotein Complex 63
10.6 LAMA2 DAG1
5
Mannose type O-glycan biosynthesis 36
10.46 POMT2 POMT1 POMGNT2 POMGNT1 FKTN FKRP
Sources

GO Terms for Muscular Dystrophy-Dystroglycanopathy , Type C, 5

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Cellular components related to Muscular Dystrophy-Dystroglycanopathy , Type C, 5 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 integral component of membrane GO:0016021 10.14 SGCG SGCA POMT2 POMT1 POMGNT2 POMGNT1
2 Z disc GO:0030018 9.5 TTN TCAP CAPN3
3 I band GO:0031674 9.37 TTN TCAP
4 dystrophin-associated glycoprotein complex GO:0016010 9.26 SGCA DAG1
5 sarcoglycan complex GO:0016012 9.16 SGCG SGCA
6 dystroglycan complex GO:0016011 9.13 SGCG SGCA DAG1
7 sarcolemma GO:0042383 9.1 SGCG SGCA LAMA2 FKRP DYSF DAG1

Biological processes related to Muscular Dystrophy-Dystroglycanopathy , Type C, 5 according to GeneCards Suite gene sharing:

(show all 21)
# Name GO ID Score Top Affiliating Genes
1 muscle contraction GO:0006936 9.76 TTN SGCA DYSF
2 protein glycosylation GO:0006486 9.73 POMT2 POMT1 POMGNT2 POMGNT1 FKTN FKRP
3 sarcomere organization GO:0045214 9.61 TTN TCAP CAPN3
4 muscle cell cellular homeostasis GO:0046716 9.6 TRIM32 CAPN3
5 positive regulation of proteolysis GO:0045862 9.59 TRIM32 CAPN3
6 mannosylation GO:0097502 9.58 POMT2 POMT1
7 cardiac myofibril assembly GO:0055003 9.57 TTN TCAP
8 cardiac muscle tissue morphogenesis GO:0055008 9.56 TTN TCAP
9 cardiac muscle fiber development GO:0048739 9.55 TTN TCAP
10 protein O-linked glycosylation GO:0006493 9.55 POMT2 POMT1 POMGNT2 POMGNT1 FKTN
11 response to denervation involved in regulation of muscle adaptation GO:0014894 9.54 SGCA DAG1
12 cardiac muscle hypertrophy GO:0003300 9.52 TTN TCAP
13 skeletal muscle thin filament assembly GO:0030240 9.51 TTN TCAP
14 skeletal muscle tissue regeneration GO:0043403 9.5 SGCA DYSF DAG1
15 Schwann cell differentiation GO:0014037 9.49 LAMA2 DAG1
16 skeletal muscle myosin thick filament assembly GO:0030241 9.48 TTN TCAP
17 detection of muscle stretch GO:0035995 9.46 TTN TCAP
18 muscle organ development GO:0007517 9.43 SGCG SGCA LAMA2 FKTN CHKB CAPN3
19 positive regulation of protein O-linked glycosylation GO:1904100 9.4 POMT2 POMT1
20 sarcomerogenesis GO:0048769 9.37 TTN TCAP
21 protein O-linked mannosylation GO:0035269 9.02 POMT2 POMT1 POMGNT2 FKTN FKRP

Molecular functions related to Muscular Dystrophy-Dystroglycanopathy , Type C, 5 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 calcium ion binding GO:0005509 9.83 TTN SGCA DYSF DAG1 CAPN3
2 transferase activity GO:0016740 9.61 TTN TRIM32 POMT2 POMT1 POMGNT2 POMGNT1
3 transferase activity, transferring glycosyl groups GO:0016757 9.46 POMT2 POMT1 POMGNT2 POMGNT1
4 mannosyltransferase activity GO:0000030 9.4 POMT2 POMT1
5 titin binding GO:0031432 9.37 TCAP CAPN3
6 dystroglycan binding GO:0002162 9.32 FKRP DAG1
7 dolichyl-phosphate-mannose-protein mannosyltransferase activity GO:0004169 9.26 POMT2 POMT1
8 structural constituent of muscle GO:0008307 8.92 TTN TCAP DAG1 CAPN3
Sources

Sources for Muscular Dystrophy-Dystroglycanopathy , Type C, 5

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 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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