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 57 53 75 13
Lgmd2i 57 12 53 59 75 55
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2i 12 53 59 15
Limb-Girdle Muscular Dystrophy Due to Fkrp Deficiency 12 53 59
Limb-Girdle Muscular Dystrophy Type 2i 38 53 75
Mddgc5 57 12 75
Muscular Dystrophy-Dystroglycanopathy Limb-Girdle Frkp-Related 12 75
Limb-Girdle Muscular Dystrophy-Dystroglycanopathy, Type C5 29 6
Muscular Dystrophy, Limb-Girdle, Type 2i 57 73
Muscular Dystrophy-Dystroglycanopathy, Limb-Girdle, Frkp-Related 57
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 9; Lgmdr9 57
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 9 57
Muscular Dystrophy-Dystroglycanopathy Limb-Girdle C5 75
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
Lgmdr9 57

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:
Onset and clinical course variable expressivity
Inheritance autosomal recessive inheritance


Classifications:



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 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. Affiliated tissues include brain, skeletal muscle and testes, and related phenotypes are scoliosis and elevated serum creatine phosphokinase

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 : 75 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 47)
# Related Disease Score Top Affiliating Genes
1 myositis 30.4 CAPN3 DYSF TTN
2 muscular dystrophy, becker type 29.9 DYSF LAMA2
3 dilated cardiomyopathy 29.3 FKRP LAMA2 TCAP TTN
4 limb-girdle muscular dystrophy 29.2 CAPN3 DYSF FKRP LAMA2 TCAP TRIM32
5 muscular dystrophy 29.0 CAPN3 DYSF FKRP LAMA2 POMGNT2 TCAP
6 paresthesia 10.2 CAPN3 FKRP
7 polyglucosan body myopathy 1 with or without immunodeficiency 10.2 CAPN3 FKRP
8 muscular dystrophy-dystroglycanopathy 10.1 FKRP POMGNT2
9 autosomal recessive limb-girdle muscular dystrophy type 2l 10.1 DYSF FKRP
10 autosomal recessive limb-girdle muscular dystrophy type 2f 10.1 CAPN3 DYSF
11 autosomal recessive limb-girdle muscular dystrophy type 2c 10.1 CAPN3 DYSF
12 autosomal dominant limb-girdle muscular dystrophy type 1c 10.1 DYSF FKRP
13 autosomal recessive limb-girdle muscular dystrophy type 2b 10.1 CAPN3 DYSF
14 dysferlinopathy 10.1 CAPN3 DYSF
15 tibial muscular dystrophy 10.0 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 dominant limb-girdle muscular dystrophy type 1a 10.0 CAPN3 FKRP TRIM32
19 autosomal recessive limb-girdle muscular dystrophy type 2d 10.0 CAPN3 DYSF FKRP
20 muscle eye brain disease 10.0 FKRP POMGNT2
21 muscular dystrophy, congenital, 1b 10.0 FKRP LAMA2
22 autosomal recessive limb-girdle muscular dystrophy type 2j 9.9 CAPN3 FKRP TTN
23 autosomal recessive limb-girdle muscular dystrophy type 2g 9.9 CAPN3 DYSF TCAP
24 muscular dystrophy-dystroglycanopathy , type b, 6 9.9 FKRP LAMA2
25 familial isolated dilated cardiomyopathy 9.9 TCAP TTN
26 ullrich congenital muscular dystrophy 1 9.9 CAPN3 LAMA2
27 creatine phosphokinase, elevated serum 9.9 LAMA2 TCAP
28 myopathy 9.9 CAPN3 DYSF TTN
29 myofibrillar myopathy 9.9 TCAP TTN
30 atrial standstill 1 9.8 FKRP TTN
31 muscular dystrophy-dystroglycanopathy , type a, 1 9.8 FKRP LAMA2 POMGNT2
32 muscular dystrophy-dystroglycanopathy , type a, 4 9.8 FKRP LAMA2 POMGNT2
33 muscular dystrophy-dystroglycanopathy , type b, 5 9.8 FKRP LAMA2 POMGNT2
34 walker-warburg syndrome 9.8 FKRP LAMA2 POMGNT2
35 autosomal recessive limb-girdle muscular dystrophy type 2a 9.8 CAPN3 DYSF FKRP TTN
36 rigid spine muscular dystrophy 1 9.7 DYSF LAMA2 TTN
37 neuromuscular disease 9.7 LAMA2 TTN
38 muscle tissue disease 9.7 CAPN3 DYSF FKRP LAMA2
39 isolated hyperckemia 9.7 CAPN3 FKRP LAMA2 TCAP
40 autosomal recessive limb-girdle muscular dystrophy 9.7 CAPN3 DYSF FKRP TCAP TRIM32
41 miyoshi muscular dystrophy 9.6 CAPN3 DYSF LAMA2 TTN
42 muscular dystrophy, congenital, lmna-related 9.6 FKRP LAMA2 POMGNT2 TTN
43 muscular dystrophy, limb-girdle, autosomal recessive 8 9.4 CAPN3 DYSF FKRP TCAP TRIM32 TTN
44 muscular dystrophy, limb-girdle, autosomal recessive 7 9.4 CAPN3 DYSF FKRP TCAP TRIM32 TTN
45 muscular dystrophy, limb-girdle, autosomal recessive 6 9.4 CAPN3 DYSF FKRP TCAP TRIM32 TTN
46 muscular dystrophy, limb-girdle, autosomal recessive 2 9.4 CAPN3 DYSF FKRP TCAP TRIM32 TTN
47 muscular disease 9.3 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

Symptoms via clinical synopsis from OMIM:

57
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

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

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

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:

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

Search Clinical Trials , 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, Eye, Tongue

Publications for Muscular Dystrophy-Dystroglycanopathy , Type C, 5

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

(show all 21)
# Title Authors Year
1
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
2
Limb-girdle muscular dystrophy type 2I: two Chinese families and a review in Asian patients. ( 28931339 )
2017
3
Limb girdle muscular dystrophy type 2I: No correlation between clinical severity, histopathology and glycosylated I+-dystroglycan levels in patients homozygous for common FKRP mutation. ( 28479227 )
2017
4
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
5
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
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
Inflammatory Changes in Limb Girdle Muscular Dystrophy Type 2I. ( 24257234 )
2013
8
Protein turnover and cellular stress in mildly and severely affected muscles from patients with limb girdle muscular dystrophy type 2I. ( 23840556 )
2013
9
Limb-girdle muscular dystrophy type 2I is not rare in Taiwan. ( 23800702 )
2013
10
Quantitative muscle MRI as an assessment tool for monitoring disease progression in LGMD2I: a multicentre longitudinal study. ( 23967145 )
2013
11
Cortical heterotopia in LGMD2I. ( 22264518 )
2012
12
Level of muscle regeneration in limb-girdle muscular dystrophy type 2I relates to genotype and clinical severity. ( 21970816 )
2011
13
Asian patients with limb girdle muscular dystrophy 2I (LGMD2I). ( 21296577 )
2011
14
Cardiac pathology exceeds skeletal muscle pathology in two cases of limb-girdle muscular dystrophy type 2I. ( 19705481 )
2009
15
Clinical and mutational spectrum of limb-girdle muscular dystrophy type 2I in 11 French patients. ( 19917824 )
2009
16
Endurance training: an effective and safe treatment for patients with LGMD2I. ( 17200494 )
2007
17
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
18
High prevalence and phenotype-genotype correlations of limb girdle muscular dystrophy type 2I in Denmark. ( 16634037 )
2006
19
Clinical and molecular characterization of patients with limb-girdle muscular dystrophy type 2I. ( 16344347 )
2005
20
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
21
The phenotype of limb-girdle muscular dystrophy type 2I. ( 12707425 )
2003

Variations for Muscular Dystrophy-Dystroglycanopathy , Type C, 5

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

75 (show all 18)
# 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
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
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

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

6 (show top 50) (show all 174)
# Gene Variation Type Significance SNP ID Assembly Location
1 FKRP NM_024301.4(FKRP): c.387_390dupACCT (p.Asp131Thrfs) duplication Pathogenic rs587777823 GRCh38 Chromosome 19, 46755837: 46755840
2 FKRP NM_024301.4(FKRP): c.387_390dupACCT (p.Asp131Thrfs) duplication Pathogenic rs587777823 GRCh37 Chromosome 19, 47259094: 47259097
3 FKRP NM_024301.4(FKRP): c.1486T> A (p.Ter496Arg) single nucleotide variant Pathogenic/Likely pathogenic rs104894682 GRCh37 Chromosome 19, 47260193: 47260193
4 FKRP NM_024301.4(FKRP): c.1486T> A (p.Ter496Arg) single nucleotide variant Pathogenic/Likely pathogenic rs104894682 GRCh38 Chromosome 19, 46756936: 46756936
5 FKRP NM_024301.4(FKRP): c.946C> A (p.Pro316Thr) single nucleotide variant Uncertain significance rs28937901 GRCh37 Chromosome 19, 47259653: 47259653
6 FKRP NM_024301.4(FKRP): c.826C> A (p.Leu276Ile) single nucleotide variant Pathogenic rs28937900 GRCh37 Chromosome 19, 47259533: 47259533
7 FKRP NM_024301.4(FKRP): c.826C> A (p.Leu276Ile) single nucleotide variant Pathogenic rs28937900 GRCh38 Chromosome 19, 46756276: 46756276
8 FKRP NM_024301.4(FKRP): c.946C> A (p.Pro316Thr) single nucleotide variant Uncertain significance rs28937901 GRCh38 Chromosome 19, 46756396: 46756396
9 FKRP NM_024301.4(FKRP): c.1364C> A (p.Ala455Asp) single nucleotide variant Pathogenic rs28937903 GRCh37 Chromosome 19, 47260071: 47260071
10 FKRP NM_024301.4(FKRP): c.1364C> A (p.Ala455Asp) single nucleotide variant Pathogenic rs28937903 GRCh38 Chromosome 19, 46756814: 46756814
11 FKRP NM_024301.4(FKRP): c.160C> T (p.Arg54Trp) single nucleotide variant Likely pathogenic rs28937905 GRCh37 Chromosome 19, 47258867: 47258867
12 FKRP NM_024301.4(FKRP): c.160C> T (p.Arg54Trp) single nucleotide variant Likely pathogenic rs28937905 GRCh38 Chromosome 19, 46755610: 46755610
13 FKRP NM_024301.4(FKRP): c.235G> A (p.Val79Met) single nucleotide variant Conflicting interpretations of pathogenicity rs104894683 GRCh37 Chromosome 19, 47258942: 47258942
14 FKRP NM_024301.4(FKRP): c.235G> A (p.Val79Met) single nucleotide variant Conflicting interpretations of pathogenicity rs104894683 GRCh38 Chromosome 19, 46755685: 46755685
15 FKRP NM_024301.4(FKRP): c.764G> A (p.Trp255Ter) single nucleotide variant Pathogenic rs104894689 GRCh37 Chromosome 19, 47259471: 47259471
16 FKRP NM_024301.4(FKRP): c.764G> A (p.Trp255Ter) single nucleotide variant Pathogenic rs104894689 GRCh38 Chromosome 19, 46756214: 46756214
17 FKRP NM_024301.4(FKRP): c.400C> T (p.Arg134Trp) single nucleotide variant Uncertain significance rs104894690 GRCh37 Chromosome 19, 47259107: 47259107
18 FKRP NM_024301.4(FKRP): c.400C> T (p.Arg134Trp) single nucleotide variant Uncertain significance rs104894690 GRCh38 Chromosome 19, 46755850: 46755850
19 FKRP NM_024301.4(FKRP): c.899T> C (p.Val300Ala) single nucleotide variant Likely pathogenic rs104894691 GRCh37 Chromosome 19, 47259606: 47259606
20 FKRP NM_024301.4(FKRP): c.899T> C (p.Val300Ala) single nucleotide variant Likely pathogenic rs104894691 GRCh38 Chromosome 19, 46756349: 46756349
21 FKRP NM_024301.4(FKRP): c.919T> A (p.Tyr307Asn) single nucleotide variant Likely pathogenic rs104894692 GRCh37 Chromosome 19, 47259626: 47259626
22 FKRP NM_024301.4(FKRP): c.919T> A (p.Tyr307Asn) single nucleotide variant Likely pathogenic rs104894692 GRCh38 Chromosome 19, 46756369: 46756369
23 FKRP NM_024301.4(FKRP): c.1387A> G (p.Asn463Asp) single nucleotide variant Pathogenic rs121908110 GRCh37 Chromosome 19, 47260094: 47260094
24 FKRP NM_024301.4(FKRP): c.1387A> G (p.Asn463Asp) single nucleotide variant Pathogenic rs121908110 GRCh38 Chromosome 19, 46756837: 46756837
25 FKRP NM_024301.4(FKRP): c.135C> T (p.Ala45=) single nucleotide variant Benign rs2287717 GRCh37 Chromosome 19, 47258842: 47258842
26 FKRP NM_024301.4(FKRP): c.135C> T (p.Ala45=) single nucleotide variant Benign rs2287717 GRCh38 Chromosome 19, 46755585: 46755585
27 FKRP NM_024301.4(FKRP): c.341C> G (p.Ala114Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs143793528 GRCh37 Chromosome 19, 47259048: 47259048
28 FKRP NM_024301.4(FKRP): c.341C> G (p.Ala114Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs143793528 GRCh38 Chromosome 19, 46755791: 46755791
29 FKRP NM_024301.4(FKRP): c.404C> A (p.Ala135Asp) single nucleotide variant Uncertain significance rs398124392 GRCh37 Chromosome 19, 47259111: 47259111
30 FKRP NM_024301.4(FKRP): c.404C> A (p.Ala135Asp) single nucleotide variant Uncertain significance rs398124392 GRCh38 Chromosome 19, 46755854: 46755854
31 FKRP NM_024301.4(FKRP): c.585C> T (p.Asp195=) single nucleotide variant Benign rs75079578 GRCh37 Chromosome 19, 47259292: 47259292
32 FKRP NM_024301.4(FKRP): c.585C> T (p.Asp195=) single nucleotide variant Benign rs75079578 GRCh38 Chromosome 19, 46756035: 46756035
33 FKRP NM_024301.4(FKRP): c.696G> T (p.Ala232=) single nucleotide variant Conflicting interpretations of pathogenicity rs398124394 GRCh37 Chromosome 19, 47259403: 47259403
34 FKRP NM_024301.4(FKRP): c.696G> T (p.Ala232=) single nucleotide variant Conflicting interpretations of pathogenicity rs398124394 GRCh38 Chromosome 19, 46756146: 46756146
35 FKRP NM_024301.4(FKRP): c.941C> T (p.Thr314Met) single nucleotide variant Pathogenic rs398124395 GRCh37 Chromosome 19, 47259648: 47259648
36 FKRP NM_024301.4(FKRP): c.941C> T (p.Thr314Met) single nucleotide variant Pathogenic rs398124395 GRCh38 Chromosome 19, 46756391: 46756391
37 FKRP NM_024301.4(FKRP): c.1A> G (p.Met1Val) single nucleotide variant Pathogenic rs587777223 GRCh38 Chromosome 19, 46755451: 46755451
38 FKRP NM_024301.4(FKRP): c.1A> G (p.Met1Val) single nucleotide variant Pathogenic rs587777223 GRCh37 Chromosome 19, 47258708: 47258708
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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
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37 KEGG
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42 MedGen
44 MeSH
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46 MGI
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51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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