MDDGC5
MCID: MSC036
MIFTS: 62

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 58 54 76 13
Lgmd2i 58 12 54 60 76 56
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2i 12 54 60 15
Limb-Girdle Muscular Dystrophy Due to Fkrp Deficiency 12 54 60
Limb-Girdle Muscular Dystrophy Type 2i 39 54 76
Mddgc5 58 12 76
Muscular Dystrophy-Dystroglycanopathy Limb-Girdle Frkp-Related 12 76
Limb-Girdle Muscular Dystrophy-Dystroglycanopathy, Type C5 30 6
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 9 58 76
Muscular Dystrophy, Limb-Girdle, Type 2i 58 74
Lgmdr9 58 76
Muscular Dystrophy-Dystroglycanopathy, Limb-Girdle, Frkp-Related 58
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 9; Lgmdr9 58
Muscular Dystrophy-Dystroglycanopathy Limb-Girdle C5 76
Muscular Dystrophy, Limb-Girdle, Type 2i; Lgmd2i 58
Muscular Dystrophy-Dystroglycanopathy Type C 5 12
Dystrophy, Muscular, Limb-Girdle, Type 2i ) 41
Muscular Dystrophy Limb-Girdle Type 2i 12

Characteristics:

Orphanet epidemiological data:

60
autosomal recessive limb-girdle muscular dystrophy type 2i
Inheritance: Autosomal recessive; Age of onset: Adolescent,Adult,Childhood,Infancy;

OMIM:

58
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:

33
muscular dystrophy-dystroglycanopathy , type c, 5:
Onset and clinical course variable expressivity
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Muscular Dystrophy-Dystroglycanopathy , Type C, 5

NIH Rare Diseases : 54 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 myositis and muscular dystrophy, becker type, and has symptoms including waddling gait, myalgia 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 Deflazacort and Lisinopril have been mentioned in the context of this disorder. Affiliated tissues include brain, skeletal muscle and eye, 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 : 58 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 : 76 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

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

(show all 45)
# Related Disease Score Top Affiliating Genes
1 myositis 30.4 CAPN3 DYSF TTN
2 muscular dystrophy, becker type 29.8 DYSF LAMA2
3 dilated cardiomyopathy 29.0 FKRP LAMA2 TCAP TTN
4 muscular dystrophy, limb-girdle, autosomal recessive 8 28.8 CAPN3 DYSF FKRP TCAP TRIM32 TTN
5 limb-girdle muscular dystrophy 28.5 CAPN3 DYSF FKRP LAMA2 TCAP TRIM32
6 muscular dystrophy 28.2 CAPN3 DYSF FKRP LAMA2 POMGNT2 TCAP
7 paresthesia 10.2 CAPN3 FKRP
8 polyglucosan body myopathy 1 with or without immunodeficiency 10.2 CAPN3 FKRP
9 muscular dystrophy-dystroglycanopathy 10.2 FKRP POMGNT2
10 autosomal recessive limb-girdle muscular dystrophy type 2l 10.2 DYSF FKRP
11 autosomal recessive limb-girdle muscular dystrophy type 2f 10.2 CAPN3 DYSF
12 autosomal recessive limb-girdle muscular dystrophy type 2c 10.1 CAPN3 DYSF
13 autosomal recessive limb-girdle muscular dystrophy type 2b 10.1 CAPN3 DYSF
14 dysferlinopathy 10.1 CAPN3 DYSF
15 tibial muscular dystrophy 10.1 CAPN3 TTN
16 bethlem myopathy 1 10.0 CAPN3 DYSF
17 autosomal recessive limb-girdle muscular dystrophy type 2h 10.0 CAPN3 FKRP TRIM32
18 autosomal recessive limb-girdle muscular dystrophy type 2d 10.0 CAPN3 DYSF FKRP
19 muscle eye brain disease 10.0 FKRP POMGNT2
20 muscular dystrophy, congenital, 1b 10.0 FKRP LAMA2
21 autosomal recessive limb-girdle muscular dystrophy type 2j 9.9 CAPN3 FKRP TTN
22 autosomal recessive limb-girdle muscular dystrophy type 2g 9.9 CAPN3 DYSF TCAP
23 muscular dystrophy-dystroglycanopathy , type b, 6 9.9 FKRP LAMA2
24 familial isolated dilated cardiomyopathy 9.9 TCAP TTN
25 ullrich congenital muscular dystrophy 1 9.8 CAPN3 LAMA2
26 creatine phosphokinase, elevated serum 9.8 LAMA2 TCAP
27 myopathy 9.8 CAPN3 DYSF TTN
28 myofibrillar myopathy 9.8 TCAP TTN
29 atrial standstill 1 9.7 FKRP TTN
30 muscular dystrophy-dystroglycanopathy , type a, 1 9.7 FKRP LAMA2 POMGNT2
31 muscular dystrophy-dystroglycanopathy , type a, 4 9.7 FKRP LAMA2 POMGNT2
32 muscular dystrophy-dystroglycanopathy , type b, 5 9.7 FKRP LAMA2 POMGNT2
33 walker-warburg syndrome 9.7 FKRP LAMA2 POMGNT2
34 autosomal recessive limb-girdle muscular dystrophy type 2a 9.6 CAPN3 DYSF FKRP TTN
35 rigid spine muscular dystrophy 1 9.6 DYSF LAMA2 TTN
36 neuromuscular disease 9.6 LAMA2 TTN
37 muscle tissue disease 9.5 CAPN3 DYSF FKRP LAMA2
38 isolated hyperckemia 9.5 CAPN3 FKRP LAMA2 TCAP
39 autosomal recessive limb-girdle muscular dystrophy 9.5 CAPN3 DYSF FKRP TCAP TRIM32
40 miyoshi muscular dystrophy 9.4 CAPN3 DYSF LAMA2 TTN
41 muscular dystrophy, congenital, lmna-related 9.3 FKRP LAMA2 POMGNT2 TTN
42 muscular dystrophy, limb-girdle, autosomal recessive 7 9.1 CAPN3 DYSF FKRP TCAP TRIM32 TTN
43 muscular dystrophy, limb-girdle, autosomal recessive 6 9.1 CAPN3 DYSF FKRP TCAP TRIM32 TTN
44 muscular dystrophy, limb-girdle, autosomal recessive 2 9.1 CAPN3 DYSF FKRP TCAP TRIM32 TTN
45 muscular disease 8.9 CAPN3 DYSF FKRP LAMA2 TRIM32 TTN

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:

60 33 (show all 33)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 proximal muscle weakness 60 33 hallmark (90%) Very frequent (99-80%) HP:0003701
2 muscular dystrophy 60 33 hallmark (90%) Very frequent (99-80%) HP:0003560
3 reduced muscle fiber alpha dystroglycan 60 33 hallmark (90%) Very frequent (99-80%) HP:0030099
4 elevated serum creatine kinase 33 hallmark (90%) HP:0003236
5 waddling gait 60 33 frequent (33%) Frequent (79-30%) HP:0002515
6 pelvic girdle muscle weakness 60 33 frequent (33%) Frequent (79-30%) HP:0003749
7 generalized hypotonia 60 33 frequent (33%) Frequent (79-30%) HP:0001290
8 calf muscle hypertrophy 60 33 frequent (33%) Frequent (79-30%) HP:0008981
9 abnormality of the achilles tendon 60 33 frequent (33%) Frequent (79-30%) HP:0005109
10 shoulder girdle muscle weakness 60 33 frequent (33%) Frequent (79-30%) HP:0003547
11 scoliosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0002650
12 dilated cardiomyopathy 60 33 occasional (7.5%) Occasional (29-5%) HP:0001644
13 motor delay 60 33 occasional (7.5%) Occasional (29-5%) HP:0001270
14 frequent falls 60 33 occasional (7.5%) Occasional (29-5%) HP:0002359
15 difficulty climbing stairs 60 33 occasional (7.5%) Occasional (29-5%) HP:0003551
16 difficulty running 60 33 occasional (7.5%) Occasional (29-5%) HP:0009046
17 reduced muscle fiber merosin 60 33 occasional (7.5%) Occasional (29-5%) HP:0030092
18 exercise-induced myoglobinuria 33 very rare (1%) HP:0008305
19 kyphosis 33 HP:0002808
20 hyperlordosis 33 HP:0003307
21 macroglossia 33 HP:0000158
22 elevated serum creatine phosphokinase 60 Very frequent (99-80%)
23 achilles tendon contracture 33 HP:0001771
24 toe walking 33 HP:0040083
25 myalgia 33 HP:0003326
26 difficulty walking 33 HP:0002355
27 vertebral fusion 33 HP:0002948
28 nocturnal hypoventilation 33 HP:0002877
29 congenital muscular dystrophy 33 HP:0003741
30 restrictive deficit on pulmonary function testing 33 HP:0002111
31 left ventricular dysfunction 33 HP:0005162
32 thigh hypertrophy 33 HP:0003733
33 muscle spasm 33 HP:0003394

Symptoms via clinical synopsis from OMIM:

58
Skeletal Spine:
scoliosis
kyphosis
lordosis
spinal fusion

Muscle Soft Tissue:
waddling gait
myalgia
muscle cramps
difficulty walking
proximal muscle weakness
more
Laboratory Abnormalities:
increased serum creatine kinase
myoglobinuria, particularly after physical exertion (25% of patients)

Head And Neck Mouth:
tongue hypertrophy

Cardiovascular Heart:
dilated cardiomyopathy
left ventricular impairment

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:


waddling gait, myalgia, muscle cramp

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

47
# 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
Deflazacort Approved, Investigational Phase 3 14484-47-0
2
Lisinopril Approved, Investigational Phase 2, Phase 3 83915-83-7, 76547-98-3 5362119
3
Coenzyme Q10 Approved, Investigational, Nutraceutical Phase 2, Phase 3 303-98-0 5281915
4 Anti-Inflammatory Agents Phase 3
5 Immunologic Factors Phase 3
6 Immunosuppressive Agents Phase 3
7 Antihypertensive Agents Phase 2, Phase 3
8 Nutrients 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 Cardiotonic Agents Phase 2, Phase 3
13 Trace Elements Phase 2, Phase 3
14 Vitamins Phase 2, Phase 3
15 Protective Agents Phase 2, Phase 3
16 Ubiquinone Phase 2, Phase 3
17 Micronutrients Phase 2, Phase 3
18 Tin Fluorides Phase 1, Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Study of Deflazacort (Emflaza®) in Participants With Limb-Girdle Muscular Dystrophy 2I (LGMD2I) Not yet recruiting NCT03783923 Phase 3 Deflazacort;Placebo
2 Clinical Trial of Coenzyme Q10 and Lisinopril in Muscular Dystrophies Completed NCT01126697 Phase 2, Phase 3 Coenzyme Q10 and Lisinopril
3 A Trial of PF-06252616 in Ambulatory Participants With LGMD2I Active, not recruiting NCT02841267 Phase 1, Phase 2 PF 06252616
4 Muscle MRI in Becker Muscular Dystrophy and in Limb-girdle Muscular Dystrophy Type 2I Completed NCT02165358
5 Limb-Girdle Muscular Dystrophy Type 2I in Norway Not yet recruiting NCT03930628
6 Natural History Study of Patients With Limb-Girdle Muscular Dystrophy 2I Not yet recruiting NCT03842878
7 Evaluation of Limb-Girdle Muscular Dystrophy Completed NCT00893334
8 Congenital Muscle Disease Study of Patient and Family Reported Medical Information Recruiting NCT01403402

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 30 FKRP

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

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

42
Brain, Skeletal Muscle, Eye, Testes, Tongue, Heart

Publications for Muscular Dystrophy-Dystroglycanopathy , Type C, 5

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

(show all 39)
# Title Authors Year
1
Limb-girdle muscular dystrophy type 2I: two Chinese families and a review in Asian patients. ( 28931339 )
2018
2
Magnetic Resonance Imaging Findings in the Muscle Tissue of Patients with Limb Girdle Muscular Dystrophy Type 2I Harboring the Founder Mutation c.545A>G in the FKRP Gene. ( 30003095 )
2018
3
Adeno-Associated Virus-Mediated Mini-Agrin Delivery Is Unable to Rescue Disease Phenotype in a Mouse Model of Limb Girdle Muscular Dystrophy Type 2I. ( 28107841 )
2017
4
Limb girdle muscular dystrophy type 2I: No correlation between clinical severity, histopathology and glycosylated α-dystroglycan levels in patients homozygous for common FKRP mutation. ( 28479227 )
2017
5
Autologous intramuscular transplantation of engineered satellite cells induces exosome-mediated systemic expression of Fukutin-related protein and rescues disease phenotype in a murine model of limb-girdle muscular dystrophy type 2I. ( 28666318 )
2017
6
A New Mouse Model of Limb-Girdle Muscular Dystrophy Type 2I Homozygous for the Common L276I Mutation Mimicking the Mild Phenotype in Humans. ( 26574668 )
2015
7
Muscle and heart function restoration in a limb girdle muscular dystrophy 2I (LGMD2I) mouse model by systemic FKRP gene delivery. ( 25048216 )
2014
8
Limb-girdle muscular dystrophy type 2I is not rare in Taiwan. ( 23800702 )
2013
9
Protein turnover and cellular stress in mildly and severely affected muscles from patients with limb girdle muscular dystrophy type 2I. ( 23840556 )
2013
10
Inflammatory Changes in Limb Girdle Muscular Dystrophy Type 2I. ( 24257234 )
2013
11
Quantitative muscle MRI as an assessment tool for monitoring disease progression in LGMD2I: a multicentre longitudinal study. ( 23967145 )
2013
12
A population-based study of autosomal-recessive disease-causing mutations in a founder population. ( 22981120 )
2012
13
Cortical heterotopia in LGMD2I. ( 22264518 )
2012
14
Asian patients with limb girdle muscular dystrophy 2I (LGMD2I). ( 21296577 )
2011
15
Level of muscle regeneration in limb-girdle muscular dystrophy type 2I relates to genotype and clinical severity. ( 21970816 )
2011
16
Cardiac pathology exceeds skeletal muscle pathology in two cases of limb-girdle muscular dystrophy type 2I. ( 19705481 )
2009
17
Clinical and mutational spectrum of limb-girdle muscular dystrophy type 2I in 11 French patients. ( 19917824 )
2009
18
Heart transplantation in a child with LGMD2I presenting as isolated dilated cardiomyopathy. ( 18060779 )
2008
19
Muscle protein alterations in LGMD2I patients with different mutations in the Fukutin-related protein gene. ( 18645206 )
2008
20
Endurance training: an effective and safe treatment for patients with LGMD2I. ( 17200494 )
2007
21
Biochemical and ultrastructural evidence of endoplasmic reticulum stress in LGMD2I. ( 17952692 )
2007
22
LGMD2I in a North American population. ( 18036232 )
2007
23
Limb girdle muscular dystrophy type 2I caused by a novel missense mutation in the FKRP gene presenting as acute virus-associated myositis in infancy. ( 16143867 )
2006
24
High prevalence and phenotype-genotype correlations of limb girdle muscular dystrophy type 2I in Denmark. ( 16634037 )
2006
25
Mutation analysis in the FKRP gene provides an explanation for a rare cause of intrafamilial clinical variability in LGMD2I. ( 17113772 )
2006
26
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. ( 15580560 )
2005
27
Hutterite brothers both affected with two forms of limb girdle muscular dystrophy: LGMD2H and LGMD2I. ( 15886712 )
2005
28
Clinical and molecular characterization of patients with limb-girdle muscular dystrophy type 2I. ( 16344347 )
2005
29
LGMD2I presenting with a characteristic Duchenne or Becker muscular dystrophy phenotype. ( 15883334 )
2005
30
Diagnostic value of muscle MRI in differentiating LGMD2I from other LGMDs. ( 15726252 )
2005
31
Sub-cellular localisation of fukutin related protein in different cell lines and in the muscle of patients with MDC1C and LGMD2I. ( 16288869 )
2005
32
Limb-girdle muscular dystrophy 2I: phenotypic variability within a large consanguineous Bedouin family associated with a novel FKRP mutation. ( 14523375 )
2004
33
Mutations in the FKRP gene can cause muscle-eye-brain disease and Walker-Warburg syndrome. ( 15121789 )
2004
34
Abnormalities in alpha-dystroglycan expression in MDC1C and LGMD2I muscular dystrophies. ( 14742276 )
2004
35
The phenotype of limb-girdle muscular dystrophy type 2I. ( 12707425 )
2003
36
Phenotypic spectrum associated with mutations in the fukutin-related protein gene. ( 12666124 )
2003
37
Fukutin-related protein gene mutated in the original kindred limb-girdle MD 2I. ( 12707439 )
2003
38
Asymptomatic carriers for homozygous novel mutations in the FKRP gene: the other end of the spectrum. ( 14647208 )
2003
39
Mutations in the fukutin-related protein gene (FKRP) identify limb girdle muscular dystrophy 2I as a milder allelic variant of congenital muscular dystrophy MDC1C. ( 11741828 )
2001

Variations for Muscular Dystrophy-Dystroglycanopathy , Type C, 5

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

76 (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

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

6 (show top 50) (show all 172)
# Gene Variation Type Significance SNP ID Assembly Location
1 FKRP NM_024301.4(FKRP): c.1343C> T (p.Pro448Leu) single nucleotide variant Pathogenic/Likely pathogenic rs104894681 GRCh37 Chromosome 19, 47260050: 47260050
2 FKRP NM_024301.4(FKRP): c.1343C> T (p.Pro448Leu) single nucleotide variant Pathogenic/Likely pathogenic rs104894681 GRCh38 Chromosome 19, 46756793: 46756793
3 FKRP NM_024301.4(FKRP): c.826C> A (p.Leu276Ile) single nucleotide variant Pathogenic rs28937900 GRCh37 Chromosome 19, 47259533: 47259533
4 FKRP NM_024301.4(FKRP): c.826C> A (p.Leu276Ile) single nucleotide variant Pathogenic rs28937900 GRCh38 Chromosome 19, 46756276: 46756276
5 FKRP NM_024301.4(FKRP): c.387_390dupACCT (p.Asp131Thrfs) duplication Pathogenic rs587777823 GRCh38 Chromosome 19, 46755837: 46755840
6 FKRP NM_024301.4(FKRP): c.387_390dupACCT (p.Asp131Thrfs) duplication Pathogenic rs587777823 GRCh37 Chromosome 19, 47259094: 47259097
7 FKRP NM_024301.4(FKRP): c.1486T> A (p.Ter496Arg) single nucleotide variant Pathogenic/Likely pathogenic rs104894682 GRCh37 Chromosome 19, 47260193: 47260193
8 FKRP NM_024301.4(FKRP): c.1486T> A (p.Ter496Arg) single nucleotide variant Pathogenic/Likely pathogenic rs104894682 GRCh38 Chromosome 19, 46756936: 46756936
9 FKRP NM_024301.4(FKRP): c.946C> A (p.Pro316Thr) single nucleotide variant Uncertain significance rs28937901 GRCh37 Chromosome 19, 47259653: 47259653
10 FKRP NM_024301.4(FKRP): c.946C> A (p.Pro316Thr) single nucleotide variant Uncertain significance rs28937901 GRCh38 Chromosome 19, 46756396: 46756396
11 FKRP NM_024301.4(FKRP): c.1364C> A (p.Ala455Asp) single nucleotide variant Pathogenic rs28937903 GRCh37 Chromosome 19, 47260071: 47260071
12 FKRP NM_024301.4(FKRP): c.1364C> A (p.Ala455Asp) single nucleotide variant Pathogenic rs28937903 GRCh38 Chromosome 19, 46756814: 46756814
13 FKRP NM_024301.4(FKRP): c.160C> T (p.Arg54Trp) single nucleotide variant Likely pathogenic rs28937905 GRCh37 Chromosome 19, 47258867: 47258867
14 FKRP NM_024301.4(FKRP): c.160C> T (p.Arg54Trp) single nucleotide variant Likely pathogenic rs28937905 GRCh38 Chromosome 19, 46755610: 46755610
15 FKRP NM_024301.4(FKRP): c.235G> A (p.Val79Met) single nucleotide variant Conflicting interpretations of pathogenicity rs104894683 GRCh37 Chromosome 19, 47258942: 47258942
16 FKRP NM_024301.4(FKRP): c.235G> A (p.Val79Met) single nucleotide variant Conflicting interpretations of pathogenicity rs104894683 GRCh38 Chromosome 19, 46755685: 46755685
17 FKRP NM_024301.4(FKRP): c.764G> A (p.Trp255Ter) single nucleotide variant Pathogenic rs104894689 GRCh37 Chromosome 19, 47259471: 47259471
18 FKRP NM_024301.4(FKRP): c.764G> A (p.Trp255Ter) single nucleotide variant Pathogenic rs104894689 GRCh38 Chromosome 19, 46756214: 46756214
19 FKRP NM_024301.4(FKRP): c.400C> T (p.Arg134Trp) single nucleotide variant Uncertain significance rs104894690 GRCh37 Chromosome 19, 47259107: 47259107
20 FKRP NM_024301.4(FKRP): c.400C> T (p.Arg134Trp) single nucleotide variant Uncertain significance rs104894690 GRCh38 Chromosome 19, 46755850: 46755850
21 FKRP NM_024301.4(FKRP): c.899T> C (p.Val300Ala) single nucleotide variant Likely pathogenic rs104894691 GRCh37 Chromosome 19, 47259606: 47259606
22 FKRP NM_024301.4(FKRP): c.899T> C (p.Val300Ala) single nucleotide variant Likely pathogenic rs104894691 GRCh38 Chromosome 19, 46756349: 46756349
23 FKRP NM_024301.4(FKRP): c.919T> A (p.Tyr307Asn) single nucleotide variant Likely pathogenic rs104894692 GRCh37 Chromosome 19, 47259626: 47259626
24 FKRP NM_024301.4(FKRP): c.919T> A (p.Tyr307Asn) single nucleotide variant Likely pathogenic rs104894692 GRCh38 Chromosome 19, 46756369: 46756369
25 FKRP NM_024301.4(FKRP): c.1387A> G (p.Asn463Asp) single nucleotide variant Pathogenic rs121908110 GRCh37 Chromosome 19, 47260094: 47260094
26 FKRP NM_024301.4(FKRP): c.1387A> G (p.Asn463Asp) single nucleotide variant Pathogenic rs121908110 GRCh38 Chromosome 19, 46756837: 46756837
27 FKRP NM_024301.4(FKRP): c.135C> T (p.Ala45=) single nucleotide variant Benign rs2287717 GRCh37 Chromosome 19, 47258842: 47258842
28 FKRP NM_024301.4(FKRP): c.135C> T (p.Ala45=) single nucleotide variant Benign rs2287717 GRCh38 Chromosome 19, 46755585: 46755585
29 FKRP NM_024301.4(FKRP): c.341C> G (p.Ala114Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs143793528 GRCh37 Chromosome 19, 47259048: 47259048
30 FKRP NM_024301.4(FKRP): c.341C> G (p.Ala114Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs143793528 GRCh38 Chromosome 19, 46755791: 46755791
31 FKRP NM_024301.4(FKRP): c.404C> A (p.Ala135Asp) single nucleotide variant Uncertain significance rs398124392 GRCh37 Chromosome 19, 47259111: 47259111
32 FKRP NM_024301.4(FKRP): c.404C> A (p.Ala135Asp) single nucleotide variant Uncertain significance rs398124392 GRCh38 Chromosome 19, 46755854: 46755854
33 FKRP NM_024301.4(FKRP): c.585C> T (p.Asp195=) single nucleotide variant Benign rs75079578 GRCh37 Chromosome 19, 47259292: 47259292
34 FKRP NM_024301.4(FKRP): c.585C> T (p.Asp195=) single nucleotide variant Benign rs75079578 GRCh38 Chromosome 19, 46756035: 46756035
35 FKRP NM_024301.4(FKRP): c.696G> T (p.Ala232=) single nucleotide variant Conflicting interpretations of pathogenicity rs398124394 GRCh37 Chromosome 19, 47259403: 47259403
36 FKRP NM_024301.4(FKRP): c.696G> T (p.Ala232=) single nucleotide variant Conflicting interpretations of pathogenicity rs398124394 GRCh38 Chromosome 19, 46756146: 46756146
37 FKRP NM_024301.4(FKRP): c.941C> T (p.Thr314Met) single nucleotide variant Pathogenic rs398124395 GRCh37 Chromosome 19, 47259648: 47259648
38 FKRP NM_024301.4(FKRP): c.941C> T (p.Thr314Met) single nucleotide variant Pathogenic rs398124395 GRCh38 Chromosome 19, 46756391: 46756391
39 FKRP NM_024301.4(FKRP): c.192C> T (p.Pro64=) single nucleotide variant Benign rs111754012 GRCh37 Chromosome 19, 47258899: 47258899
40 FKRP NM_024301.4(FKRP): c.192C> T (p.Pro64=) single nucleotide variant Benign rs111754012 GRCh38 Chromosome 19, 46755642: 46755642
41 FKRP NM_024301.4(FKRP): c.427C> A (p.Arg143Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs148206382 GRCh37 Chromosome 19, 47259134: 47259134
42 FKRP NM_024301.4(FKRP): c.427C> A (p.Arg143Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs148206382 GRCh38 Chromosome 19, 46755877: 46755877
43 FKRP NM_024301.4(FKRP): c.586G> A (p.Gly196Arg) single nucleotide variant Uncertain significance rs759875552 GRCh37 Chromosome 19, 47259293: 47259293
44 FKRP NM_024301.4(FKRP): c.586G> A (p.Gly196Arg) single nucleotide variant Uncertain significance rs759875552 GRCh38 Chromosome 19, 46756036: 46756036
45 FKRP NM_024301.4(FKRP): c.946C> T (p.Pro316Ser) single nucleotide variant Uncertain significance rs28937901 GRCh37 Chromosome 19, 47259653: 47259653
46 FKRP NM_024301.4(FKRP): c.946C> T (p.Pro316Ser) single nucleotide variant Uncertain significance rs28937901 GRCh38 Chromosome 19, 46756396: 46756396
47 FKRP NM_024301.4(FKRP): c.947C> G (p.Pro316Arg) single nucleotide variant Likely pathogenic rs752582904 GRCh37 Chromosome 19, 47259654: 47259654
48 FKRP NM_024301.4(FKRP): c.947C> G (p.Pro316Arg) single nucleotide variant Likely pathogenic rs752582904 GRCh38 Chromosome 19, 46756397: 46756397
49 FKRP NM_024301.4(FKRP): c.483C> T (p.Ala161=) single nucleotide variant Conflicting interpretations of pathogenicity rs797045576 GRCh37 Chromosome 19, 47259190: 47259190
50 FKRP NM_024301.4(FKRP): c.483C> T (p.Ala161=) single nucleotide variant Conflicting interpretations of pathogenicity rs797045576 GRCh38 Chromosome 19, 46755933: 46755933

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 TCAP TTN
2 9.98 FKRP POMGNT2

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 TCAP TTN
2 T-tubule GO:0030315 9.26 CAPN3 DYSF
3 I band GO:0031674 9.16 TCAP TTN
4 Z disc GO:0030018 9.13 CAPN3 TCAP TTN
5 sarcolemma GO:0042383 8.8 DYSF FKRP LAMA2

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

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 TRIM32 TTN
2 titin binding GO:0031432 8.96 CAPN3 TCAP
3 structural constituent of muscle GO:0008307 8.8 CAPN3 TCAP TTN

Sources for Muscular Dystrophy-Dystroglycanopathy , Type C, 5

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
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45 MeSH
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50 NCI
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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
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