MDDGC5
MCID: MSC036
MIFTS: 61

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

Categories: Eye diseases, Fetal diseases, Genetic diseases, Mental diseases, Metabolic diseases, Muscle diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Muscular Dystrophy-Dystroglycanopathy , Type C, 5

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

Name: Muscular Dystrophy-Dystroglycanopathy , Type C, 5 57 53 74 13
Lgmd2i 57 12 53 59 74 55
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2i 12 53 59 15
Limb-Girdle Muscular Dystrophy Due to Fkrp Deficiency 12 53 59
Mddgc5 57 12 74
Muscular Dystrophy-Dystroglycanopathy Limb-Girdle Frkp-Related 12 74
Limb-Girdle Muscular Dystrophy-Dystroglycanopathy, Type C5 29 6
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 9 57 74
Muscular Dystrophy, Limb-Girdle, Type 2i 57 72
Limb-Girdle Muscular Dystrophy Type 2i 53 74
Lgmdr9 57 74
Muscular Dystrophy-Dystroglycanopathy, Limb-Girdle, Frkp-Related 57
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 9; Lgmdr9 57
Muscular Dystrophy-Dystroglycanopathy Limb-Girdle C5 74
Muscular Dystrophy, Limb-Girdle, Type 2i; Lgmd2i 57
Muscular Dystrophy-Dystroglycanopathy Type C 5 12
Dystrophy, Muscular, Limb-Girdle, Type 2i 40
Muscular Dystrophy Limb-Girdle Type 2i 12

Characteristics:

Orphanet epidemiological data:

59
autosomal recessive limb-girdle muscular dystrophy type 2i
Inheritance: Autosomal recessive; Age of onset: Adolescent,Adult,Childhood,Infancy;

OMIM:

57
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:

32
muscular dystrophy-dystroglycanopathy , type c, 5:
Inheritance autosomal recessive inheritance
Onset and clinical course variable expressivity


Classifications:



External Ids:

Disease Ontology 12 DOID:0110299
MeSH 44 D049288
ICD10 33 G71.0
ICD10 via Orphanet 34 G71.0
UMLS via Orphanet 73 C1846672
Orphanet 59 ORPHA34515
MedGen 42 C1846672
UMLS 72 C1846672

Summaries for Muscular Dystrophy-Dystroglycanopathy , Type C, 5

NIH Rare Diseases : 53 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 Striated Muscle Contraction and Mannose type O-glycan biosynthesis. The drugs Lisinopril and Deflazacort have been mentioned in the context of this disorder. Affiliated tissues include brain, skeletal muscle and testes, 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 : 57 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 : 74 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.

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

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 54)
# Related Disease Score Top Affiliating Genes
1 dysferlinopathy 30.9 DYSF CAPN3
2 myositis 30.2 TTN DYSF CAPN3
3 muscle eye brain disease 30.1 POMGNT2 FKRP
4 muscular dystrophy, becker type 29.9 LAMA2 DYSF
5 myopathy 29.8 TTN DYSF CAPN3
6 muscular dystrophy-dystroglycanopathy , type b, 5 29.6 POMGNT2 LAMA2 FKRP
7 atrial standstill 1 29.4 TTN FKRP
8 muscular dystrophy-dystroglycanopathy , type a, 1 29.4 POMGNT2 LAMA2 FKRP
9 walker-warburg syndrome 29.3 POMGNT2 LAMA2 FKRP
10 neuromuscular disease 29.0 TTN LAMA2
11 isolated hyperckemia 28.9 TCAP LAMA2 FKRP CAPN3
12 muscular dystrophy, congenital, lmna-related 28.9 TTN POMGNT2 LAMA2 FKRP
13 autosomal recessive limb-girdle muscular dystrophy 28.8 TRIM32 TCAP FKRP DYSF CAPN3
14 dilated cardiomyopathy 28.3 TTN TCAP LAMA2 FKRP
15 muscular dystrophy, limb-girdle, autosomal recessive 8 28.2 TTN TRIM32 TCAP FKRP DYSF CAPN3
16 limb-girdle muscular dystrophy 27.6 TTN TRIM32 TCAP LAMA2 FKRP DYSF
17 muscular dystrophy 27.0 TTN TRIM32 TCAP POMGNT2 LAMA2 FKRP
18 muscular atrophy 10.6
19 heart disease 10.4
20 congestive heart failure 10.4
21 congenital muscular dystrophy due to dystroglycanopathy 10.4
22 qualitative or quantitative defects of dysferlin 10.4
23 qualitative or quantitative defects of alpha-dystroglycan 10.4
24 paresthesia 10.4 FKRP CAPN3
25 polyglucosan body myopathy 1 with or without immunodeficiency 10.4 FKRP CAPN3
26 muscular dystrophy-dystroglycanopathy 10.3 POMGNT2 FKRP
27 autosomal recessive limb-girdle muscular dystrophy type 2l 10.3 FKRP DYSF
28 autosomal recessive limb-girdle muscular dystrophy type 2f 10.3 DYSF CAPN3
29 autosomal recessive limb-girdle muscular dystrophy type 2c 10.2 DYSF CAPN3
30 autosomal recessive limb-girdle muscular dystrophy type 2b 10.2 DYSF CAPN3
31 tibial muscular dystrophy 10.1 TTN CAPN3
32 muscular dystrophy, limb-girdle, autosomal recessive 1 10.1
33 dystrophinopathies 10.1
34 qualitative or quantitative defects of dystrophin 10.1
35 bethlem myopathy 1 10.1 DYSF CAPN3
36 autosomal recessive limb-girdle muscular dystrophy type 2h 10.0 TRIM32 FKRP CAPN3
37 autosomal recessive limb-girdle muscular dystrophy type 2d 10.0 FKRP DYSF CAPN3
38 muscular dystrophy, congenital, 1b 9.9 LAMA2 FKRP
39 autosomal recessive limb-girdle muscular dystrophy type 2j 9.8 TTN FKRP CAPN3
40 muscular dystrophy-dystroglycanopathy , type b, 6 9.8 LAMA2 FKRP
41 autosomal recessive limb-girdle muscular dystrophy type 2g 9.8 TCAP DYSF CAPN3
42 familial isolated dilated cardiomyopathy 9.8 TTN TCAP
43 ullrich congenital muscular dystrophy 1 9.7 LAMA2 CAPN3
44 creatine phosphokinase, elevated serum 9.7 TCAP LAMA2
45 myofibrillar myopathy 9.7 TTN TCAP
46 muscular dystrophy-dystroglycanopathy , type a, 4 9.5 POMGNT2 LAMA2 FKRP
47 autosomal recessive limb-girdle muscular dystrophy type 2a 9.4 TTN FKRP DYSF CAPN3
48 rigid spine muscular dystrophy 1 9.3 TTN LAMA2 DYSF
49 muscle tissue disease 9.2 LAMA2 FKRP DYSF CAPN3
50 miyoshi muscular dystrophy 9.0 TTN LAMA2 DYSF CAPN3

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



Diseases related to Muscular Dystrophy-Dystroglycanopathy  , Type C, 5

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

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

59 32 (show all 34)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 proximal muscle weakness 59 32 hallmark (90%) Very frequent (99-80%) HP:0003701
2 muscular dystrophy 59 32 hallmark (90%) Very frequent (99-80%) HP:0003560
3 reduced muscle fiber alpha dystroglycan 59 32 hallmark (90%) Very frequent (99-80%) HP:0030099
4 elevated serum creatine kinase 32 hallmark (90%) HP:0003236
5 generalized hypotonia 59 32 frequent (33%) Frequent (79-30%) HP:0001290
6 waddling gait 59 32 frequent (33%) Frequent (79-30%) HP:0002515
7 pelvic girdle muscle weakness 59 32 frequent (33%) Frequent (79-30%) HP:0003749
8 calf muscle hypertrophy 59 32 frequent (33%) Frequent (79-30%) HP:0008981
9 abnormality of the achilles tendon 59 32 frequent (33%) Frequent (79-30%) HP:0005109
10 shoulder girdle muscle weakness 59 32 frequent (33%) Frequent (79-30%) HP:0003547
11 scoliosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002650
12 dilated cardiomyopathy 59 32 occasional (7.5%) Occasional (29-5%) HP:0001644
13 motor delay 59 32 occasional (7.5%) Occasional (29-5%) HP:0001270
14 frequent falls 59 32 occasional (7.5%) Occasional (29-5%) HP:0002359
15 difficulty climbing stairs 59 32 occasional (7.5%) Occasional (29-5%) HP:0003551
16 difficulty running 59 32 occasional (7.5%) Occasional (29-5%) HP:0009046
17 reduced muscle fiber merosin 59 32 occasional (7.5%) Occasional (29-5%) HP:0030092
18 exercise-induced myoglobinuria 32 very rare (1%) HP:0008305
19 kyphosis 32 HP:0002808
20 hyperlordosis 32 HP:0003307
21 macroglossia 32 HP:0000158
22 elevated serum creatine phosphokinase 59 Very frequent (99-80%)
23 myalgia 32 HP:0003326
24 achilles tendon contracture 32 HP:0001771
25 toe walking 32 HP:0040083
26 difficulty walking 32 HP:0002355
27 vertebral fusion 32 HP:0002948
28 congenital muscular dystrophy 32 HP:0003741
29 nocturnal hypoventilation 32 HP:0002877
30 restrictive deficit on pulmonary function testing 32 HP:0002111
31 left ventricular dysfunction 32 HP:0005162
32 thigh hypertrophy 32 HP:0003733
33 muscle spasm 32 HP:0003394
34 reduced forced vital capacity 32 HP:0032341

Symptoms via clinical synopsis from OMIM:

57
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:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.63 DYSF FKRP LAMA2 TCAP TRIM32 TTN
2 homeostasis/metabolism MP:0005376 9.56 CAPN3 DYSF FKRP LAMA2 POMGNT2 TCAP
3 muscle MP:0005369 9.17 CAPN3 DYSF FKRP LAMA2 TCAP TRIM32

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

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 Antihypertensive Agents Phase 2, Phase 3
5 Cardiotonic Agents Phase 2, Phase 3
6 Ubiquinone Phase 2, Phase 3
7 Trace Elements Phase 2, Phase 3
8 Micronutrients Phase 2, Phase 3
9 HIV Protease Inhibitors Phase 2, Phase 3
10
protease inhibitors Phase 2, Phase 3
11 Angiotensin-Converting Enzyme Inhibitors Phase 2, Phase 3
12 Protective Agents Phase 2, Phase 3
13 Nutrients Phase 2, Phase 3
14 Vitamins Phase 2, Phase 3
15 Immunologic Factors Phase 3
16 Immunosuppressive Agents Phase 3
17 Anti-Inflammatory Agents Phase 3
18 Tin Fluorides Phase 1, Phase 2

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 Not yet recruiting NCT03842878

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

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

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

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

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

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

41
Brain, Skeletal Muscle, Testes, Tongue, Heart, Eye, Cerebellum

Publications for Muscular Dystrophy-Dystroglycanopathy , Type C, 5

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

(show top 50) (show all 109)
# 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. 9 38 8 71
15580560 2005
2
Limb-girdle muscular dystrophy 2I: phenotypic variability within a large consanguineous Bedouin family associated with a novel FKRP mutation. 9 38 8 71
14523375 2004
3
Asymptomatic carriers for homozygous novel mutations in the FKRP gene: the other end of the spectrum. 9 38 8 71
14647208 2003
4
Fukutin-related protein gene mutated in the original kindred limb-girdle MD 2I. 9 38 8 71
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. 9 38 8 71
11741828 2001
6
High prevalence and phenotype-genotype correlations of limb girdle muscular dystrophy type 2I in Denmark. 38 8 71
16634037 2006
7
Hutterite brothers both affected with two forms of limb girdle muscular dystrophy: LGMD2H and LGMD2I. 38 8 71
15886712 2005
8
Phenotypic spectrum associated with mutations in the fukutin-related protein gene. 38 8 71
12666124 2003
9
The phenotype of limb-girdle muscular dystrophy type 2I. 9 38 8
12707425 2003
10
Endurance training: an effective and safe treatment for patients with LGMD2I. 38 8
17200494 2007
11
LGMD2I presenting with a characteristic Duchenne or Becker muscular dystrophy phenotype. 38 8
15883334 2005
12
A population-based study of autosomal-recessive disease-causing mutations in a founder population. 71
22981120 2012
13
Myoglobinuria and muscle pain are common in patients with limb-girdle muscular dystrophy 2I. 8
21220724 2011
14
Spectrum of brain changes in patients with congenital muscular dystrophy and FKRP gene mutations. 8
16476814 2006
15
Cardiac and respiratory failure in limb-girdle muscular dystrophy 2I. 8
15505776 2004
16
Mutations in the FKRP gene can cause muscle-eye-brain disease and Walker-Warburg syndrome. 71
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. 8
11592034 2001
18
A new locus for autosomal recessive limb-girdle muscular dystrophy in a large consanguineous Tunisian family maps to chromosome 19q13.3. 8
10838249 2000
19
Abnormal merosin in adults. A new form of late onset muscular dystrophy not linked to chromosome 6q2. 8
9577386 1998
20
Mutations alter secretion of fukutin-related protein. 9 38
19900540 2010
21
Clinical and mutational spectrum of limb-girdle muscular dystrophy type 2I in 11 French patients. 9 38
19917824 2009
22
Muscle protein alterations in LGMD2I patients with different mutations in the Fukutin-related protein gene. 9 38
18645206 2008
23
cDNA analyses of CAPN3 enhance mutation detection and reveal a low prevalence of LGMD2A patients in Denmark. 9 38
18337726 2008
24
Variable cardiac involvement in Tunisian siblings harboring FKRP gene mutations. 9 38
18671187 2008
25
Clinical, molecular, and protein correlations in a large sample of genetically diagnosed Italian limb girdle muscular dystrophy patients. 9 38
17994539 2008
26
Biochemical and ultrastructural evidence of endoplasmic reticulum stress in LGMD2I. 9 38
17952692 2007
27
LGMD2I in a North American population. 9 38
18036232 2007
28
A novel FKRP gene mutation in a Taiwanese patient with limb-girdle muscular dystrophy 2I. 9 38
17055682 2007
29
[Phenotypic aspects of FKRP-linked muscular dystrophy type 2I in a series of eleven patients]. 9 38
17351538 2007
30
Mutation analysis in the FKRP gene provides an explanation for a rare cause of intrafamilial clinical variability in LGMD2I. 9 38
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. 9 38
18593008 2006
32
Cardiac involvement in limb-girdle muscular dystrophy 2I : conventional cardiac diagnostic and cardiovascular magnetic resonance. 9 38
16786213 2006
33
Sub-cellular localisation of fukutin related protein in different cell lines and in the muscle of patients with MDC1C and LGMD2I. 9 38
16288869 2005
34
Mutated fukutin-related protein (FKRP) localises as wild type in differentiated muscle cells. 9 38
16055117 2005
35
Dilated cardiomyopathy may be an early sign of the C826A Fukutin-related protein mutation. 9 38
15833432 2005
36
Diagnostic value of muscle MRI in differentiating LGMD2I from other LGMDs. 9 38
15726252 2005
37
LGMD2A: genotype-phenotype correlations based on a large mutational survey on the calpain 3 gene. 9 38
15689361 2005
38
Fukutin-related protein mutations that cause congenital muscular dystrophy result in ER-retention of the mutant protein in cultured cells. 9 38
15574464 2005
39
[Limb girdle muscular dystrophies]. 9 38
15316618 2004
40
[The clinical spectrum of limb-girdle muscular dystrophies type 2I in cases of a mutation in the "fukutin-related- protein"-gene]. 9 38
15221067 2004
41
Abnormalities in alpha-dystroglycan expression in MDC1C and LGMD2I muscular dystrophies. 9 38
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. 9 38
14652796 2004
43
Molecular bases of autosomal recessive limb-girdle muscular dystrophies. 9 38
14959561 2003
44
FKRP gene mutations cause congenital muscular dystrophy, mental retardation, and cerebellar cysts. 9 38
12654965 2003
45
Functional requirements for fukutin-related protein in the Golgi apparatus. 9 38
12471058 2002
46
Autosomal recessive limb-girdle and Miyoshi muscular dystrophies in the Netherlands: The clinical and molecular spectrum of 244 patients. 38
30919934 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. 38
31091146 2019
48
Advances in imaging of brain abnormalities in neuromuscular disease. 38
31105770 2019
49
A limb-girdle muscular dystrophy 2I model of muscular dystrophy identifies corrective drug compounds for dystroglycanopathies. 38
30232282 2018
50
Limb-girdle muscular dystrophy type 2I: two Chinese families and a review in Asian patients. 38
28931339 2018

Variations for Muscular Dystrophy-Dystroglycanopathy , Type C, 5

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

6 (show top 50) (show all 84)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 FKRP NM_024301.5(FKRP): c.-272G> A single nucleotide variant Pathogenic rs1555735545 19:47249328-47249328 19:46746071-46746071
2 FKRP NM_024301.5(FKRP): c.1168_1169CG[1] (p.Gly391fs) short repeat Pathogenic rs748087383 19:47259873-47259875 19:46756620-46756621
3 FKRP NM_024301.5(FKRP): c.826C> A (p.Leu276Ile) single nucleotide variant Pathogenic rs28937900 19:47259533-47259533 19:46756276-46756276
4 FKRP NM_024301.5(FKRP): c.387_390dup (p.Asp131delinsThrTer) duplication Pathogenic rs587777823 19:47259094-47259097 19:46755837-46755840
5 FKRP NM_024301.5(FKRP): c.1364C> A (p.Ala455Asp) single nucleotide variant Pathogenic rs28937903 19:47260071-47260071 19:46756814-46756814
6 FKRP NM_024301.5(FKRP): c.764G> A (p.Trp255Ter) single nucleotide variant Pathogenic rs104894689 19:47259471-47259471 19:46756214-46756214
7 FKRP NM_024301.5(FKRP): c.941C> T (p.Thr314Met) single nucleotide variant Pathogenic rs398124395 19:47259648-47259648 19:46756391-46756391
8 FKRP NM_024301.5(FKRP): c.162_165dup (p.Phe56fs) duplication Pathogenic rs886042506 19:47258869-47258872 19:46755612-46755615
9 FKRP NM_024301.5(FKRP): c.545A> G (p.Tyr182Cys) single nucleotide variant Pathogenic/Likely pathogenic rs543163491 19:47259252-47259252 19:46755995-46755995
10 FKRP NM_024301.5(FKRP): c.899T> C (p.Val300Ala) single nucleotide variant Pathogenic/Likely pathogenic rs104894691 19:47259606-47259606 19:46756349-46756349
11 FKRP NM_024301.5(FKRP): c.919T> A (p.Tyr307Asn) single nucleotide variant Pathogenic/Likely pathogenic rs104894692 19:47259626-47259626 19:46756369-46756369
12 FKRP NM_024301.5(FKRP): c.1343C> T (p.Pro448Leu) single nucleotide variant Pathogenic/Likely pathogenic rs104894681 19:47260050-47260050 19:46756793-46756793
13 FKRP NM_024301.5(FKRP): c.1486T> A (p.Ter496Arg) single nucleotide variant Pathogenic/Likely pathogenic rs104894682 19:47260193-47260193 19:46756936-46756936
14 FKRP NM_024301.5(FKRP): c.1141dup (p.Ala381fs) duplication Pathogenic/Likely pathogenic rs754403441 19:47259842-47259842 19:46756591-46756591
15 FKRP NM_024301.5(FKRP): c.266C> T (p.Pro89Leu) single nucleotide variant Pathogenic/Likely pathogenic rs770711331 19:47258973-47258973 19:46755716-46755716
16 FKRP NM_024301.5(FKRP): c.77G> A (p.Trp26Ter) single nucleotide variant Pathogenic/Likely pathogenic rs752731569 19:47258784-47258784 19:46755527-46755527
17 FKRP NM_024301.5(FKRP): c.928G> T (p.Glu310Ter) single nucleotide variant Pathogenic/Likely pathogenic rs765885747 19:47259635-47259635 19:46756378-46756378
18 FKRP NM_024301.5(FKRP): c.675del (p.Thr226fs) deletion Pathogenic/Likely pathogenic rs886043706 19:47259382-47259382 19:46756125-46756125
19 FKRP NM_024301.5(FKRP): c.970G> T (p.Glu324Ter) single nucleotide variant Pathogenic/Likely pathogenic rs886044183 19:47259677-47259677 19:46756420-46756420
20 FKRP NM_024301.5(FKRP): c.170_186dup (p.Val63fs) duplication Likely pathogenic rs1555738149 19:47258874-47258874 19:46755620-46755636
21 FKRP NM_024301.5(FKRP): c.957_958GC[3] (p.Leu322fs) short repeat Likely pathogenic rs1555738883 19:47259663-47259665 19:46756413-46756414
22 FKRP NM_024301.5(FKRP): c.214C> T (p.Gln72Ter) single nucleotide variant Likely pathogenic rs1555738201 19:47258921-47258921 19:46755664-46755664
23 FKRP NM_024301.5(FKRP): c.778G> T (p.Glu260Ter) single nucleotide variant Likely pathogenic rs1555738753 19:47259485-47259485 19:46756228-46756228
24 FKRP NM_024301.5(FKRP): c.1027G> T (p.Glu343Ter) single nucleotide variant Likely pathogenic rs587780334 19:47259734-47259734 19:46756477-46756477
25 FKRP NM_024301.5(FKRP): c.796del (p.Ala266fs) deletion Likely pathogenic rs1555738764 19:47259500-47259501 19:46756246-46756246
26 FKRP NM_024301.5(FKRP): c.1036T> C (p.Ser346Pro) single nucleotide variant Likely pathogenic rs753811189 19:47259743-47259743 19:46756486-46756486
27 FKRP NM_024301.5(FKRP): c.267delinsAT (p.Pro90fs) indel Likely pathogenic rs1555738245 19:47258973-47258974 19:46755717-46755717
28 FKRP NM_024301.5(FKRP): c.526C> T (p.Arg176Ter) single nucleotide variant Likely pathogenic rs1555738502 19:47259233-47259233 19:46755976-46755976
29 FKRP NM_024301.5(FKRP): c.566_570dup (p.Cys191fs) duplication Likely pathogenic rs1555738568 19:47259269-47259269 19:46756016-46756020
30 FKRP NM_024301.5(FKRP): c.656del (p.Gly219fs) deletion Likely pathogenic rs1555738651 19:47259360-47259361 19:46756106-46756106
31 FKRP NM_024301.5(FKRP): c.1384C> T (p.Pro462Ser) single nucleotide variant Likely pathogenic rs768606230 19:47260091-47260091 19:46756834-46756834
32 FKRP NM_024301.5(FKRP): c.1119del (p.Asn374fs) deletion Likely pathogenic rs1555739041 19:47259825-47259826 19:46756569-46756569
33 FKRP NM_024301.5(FKRP): c.558dup (p.Ala187fs) duplication Likely pathogenic rs1191737604 19:47259260-47259260 19:46756008-46756008
34 FKRP NM_024301.5(FKRP): c.859_869del (p.Phe287fs) deletion Likely pathogenic rs1555738823 19:47259565-47259576 19:46756309-46756319
35 FKRP NM_024301.5(FKRP): c.345_349del (p.Arg116fs) deletion Likely pathogenic rs1555738311 19:47259050-47259055 19:46755795-46755799
36 FKRP NM_024301.5(FKRP): c.464del (p.Leu155fs) deletion Likely pathogenic rs1555738456 19:47259170-47259171 19:46755914-46755914
37 FKRP NM_024301.5(FKRP): c.686del (p.Arg229fs) deletion Likely pathogenic rs1555738686 19:47259392-47259393 19:46756136-46756136
38 FKRP NM_024301.5(FKRP): c.688_722del (p.Gly230fs) deletion Likely pathogenic rs1555738675 19:47259387-47259422 19:46756138-46756172
39 FKRP NM_024301.5(FKRP): c.931G> T (p.Glu311Ter) single nucleotide variant Likely pathogenic rs1483781400 19:47259638-47259638 19:46756381-46756381
40 FKRP NM_024301.5(FKRP): c.225_229AGCCC[3] (p.Val79fs) short repeat Likely pathogenic rs1555738204 19:47258928-47258928 19:46755680-46755684
41 FKRP NM_024301.5(FKRP): c.1475del (p.Thr492fs) deletion Likely pathogenic rs1555739333 19:47260181-47260182 19:46756925-46756925
42 FKRP NM_024301.5(FKRP): c.160C> T (p.Arg54Trp) single nucleotide variant Likely pathogenic rs28937905 19:47258867-47258867 19:46755610-46755610
43 FKRP NM_024301.5(FKRP): c.582G> A (p.Leu194=) single nucleotide variant Conflicting interpretations of pathogenicity rs771223960 19:47259289-47259289 19:46756032-46756032
44 FKRP NM_024301.5(FKRP): c.898G> A (p.Val300Met) single nucleotide variant Conflicting interpretations of pathogenicity rs563033008 19:47259605-47259605 19:46756348-46756348
45 FKRP NM_024301.5(FKRP): c.341C> G (p.Ala114Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs143793528 19:47259048-47259048 19:46755791-46755791
46 FKRP NM_024301.5(FKRP): c.427C> A (p.Arg143Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs148206382 19:47259134-47259134 19:46755877-46755877
47 FKRP NM_024301.5(FKRP): c.483C> T (p.Ala161=) single nucleotide variant Conflicting interpretations of pathogenicity rs797045576 19:47259190-47259190 19:46755933-46755933
48 FKRP NM_024301.5(FKRP): c.823C> T (p.Arg275Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs1247934219 19:47259530-47259530 19:46756273-46756273
49 FKRP NM_024301.5(FKRP): c.1433T> C (p.Ile478Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs1301397800 19:47260140-47260140 19:46756883-46756883
50 FKRP NM_024301.5(FKRP): c.696G> T (p.Ala232=) single nucleotide variant Conflicting interpretations of pathogenicity rs398124394 19:47259403-47259403 19:46756146-46756146

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

74 (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

Expression for Muscular Dystrophy-Dystroglycanopathy , Type C, 5

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

Pathways for Muscular Dystrophy-Dystroglycanopathy , Type C, 5

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

# Super pathways Score Top Affiliating Genes
1 10.81 TTN TCAP
2 9.98 POMGNT2 FKRP

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

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

# Name GO ID Score Top Affiliating Genes
1 sarcomere GO:0030017 9.32 TTN TCAP
2 T-tubule GO:0030315 9.26 DYSF CAPN3
3 I band GO:0031674 9.16 TTN TCAP
4 Z disc GO:0030018 9.13 TTN TCAP CAPN3
5 sarcolemma GO:0042383 8.8 LAMA2 FKRP DYSF

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

(show all 17)
# Name GO ID Score Top Affiliating Genes
1 regulation of catalytic activity GO:0050790 9.57 TTN CAPN3
2 fat cell differentiation GO:0045444 9.56 TRIM32 DYSF
3 response to calcium ion GO:0051592 9.55 TTN CAPN3
4 cardiac muscle contraction GO:0060048 9.54 TTN TCAP
5 muscle filament sliding GO:0030049 9.52 TTN TCAP
6 muscle cell cellular homeostasis GO:0046716 9.51 TRIM32 CAPN3
7 cardiac muscle tissue morphogenesis GO:0055008 9.49 TTN TCAP
8 positive regulation of proteolysis GO:0045862 9.48 TRIM32 CAPN3
9 cardiac myofibril assembly GO:0055003 9.46 TTN TCAP
10 cardiac muscle fiber development GO:0048739 9.43 TTN TCAP
11 skeletal muscle thin filament assembly GO:0030240 9.4 TTN TCAP
12 protein O-linked mannosylation GO:0035269 9.37 POMGNT2 FKRP
13 skeletal muscle myosin thick filament assembly GO:0030241 9.32 TTN TCAP
14 cardiac muscle hypertrophy GO:0003300 9.26 TTN TCAP
15 detection of muscle stretch GO:0035995 9.16 TTN TCAP
16 sarcomerogenesis GO:0048769 8.96 TTN TCAP
17 sarcomere organization GO:0045214 8.8 TTN TCAP CAPN3

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

# Name GO ID Score Top Affiliating Genes
1 protein self-association GO:0043621 9.16 TTN TRIM32
2 titin binding GO:0031432 8.96 TCAP CAPN3
3 structural constituent of muscle GO:0008307 8.8 TTN TCAP CAPN3

Sources for Muscular Dystrophy-Dystroglycanopathy , Type C, 5

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
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32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
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44 MeSH
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51 NDF-RT
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57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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