MCID: MSC036
MIFTS: 60

Muscular Dystrophy-Dystroglycanopathy , Type C, 5

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

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 muscular dystrophy, becker type and limb-girdle muscular dystrophy, and has symptoms including muscle cramp, myalgia and waddling gait. 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 Coenzyme Q10 have been mentioned in the context of this disorder. Affiliated tissues include brain, skeletal muscle and testes, and related phenotypes are scoliosis and kyphosis

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 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

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

(show all 41)
# Related Disease Score Top Affiliating Genes
1 muscular dystrophy, becker type 29.3 DYSF LAMA2
2 limb-girdle muscular dystrophy 27.6 CAPN3 DYSF FKRP TCAP TRIM32 TTN
3 dilated cardiomyopathy 27.5 FKRP LAMA2 TCAP TTN
4 muscular dystrophy 25.3 CAPN3 DYSF FKRP LAMA2 POMGNT2 TCAP
5 polyglucosan body myopathy 1 with or without immunodeficiency 10.5 CAPN3 FKRP
6 muscular dystrophy, limb-girdle, type 1c 10.4 DYSF FKRP
7 autosomal dominant limb-girdle muscular dystrophy type 1c 10.4 DYSF FKRP
8 autosomal recessive limb-girdle muscular dystrophy type 2f 10.4 CAPN3 DYSF
9 muscular dystrophy, limb-girdle, type 2l 10.3 DYSF FKRP
10 autosomal recessive limb-girdle muscular dystrophy type 2b 10.3 CAPN3 DYSF
11 muscular dystrophy, limb-girdle, type 2c 10.3 CAPN3 DYSF
12 dysferlinopathy 10.2 CAPN3 DYSF
13 muscular dystrophy-dystroglycanopathy 10.1 FKRP POMGNT2
14 muscular dystrophy, limb-girdle, type 1a 10.1 CAPN3 FKRP TRIM32
15 muscular dystrophy, limb-girdle, type 2d 10.0 CAPN3 DYSF FKRP
16 bethlem myopathy 1 10.0 CAPN3 DYSF
17 muscular dystrophy, congenital, 1b 9.9 FKRP LAMA2
18 muscular dystrophy, limb-girdle, type 2j 9.8 CAPN3 FKRP TTN
19 muscular dystrophy-dystroglycanopathy , type b, 6 9.8 FKRP LAMA2
20 familial isolated dilated cardiomyopathy 9.7 TCAP TTN
21 distal muscular dystrophy 9.7 CAPN3 DYSF TTN
22 creatine phosphokinase, elevated serum 9.6 LAMA2 TCAP
23 myositis 9.6 CAPN3 DYSF TTN
24 ullrich congenital muscular dystrophy 1 9.6 CAPN3 LAMA2
25 autosomal recessive limb-girdle muscular dystrophy type 2h 9.5 CAPN3 DYSF FKRP TRIM32
26 atrial standstill 1 9.4 FKRP TTN
27 muscular dystrophy-dystroglycanopathy , type a, 4 9.4 FKRP LAMA2 POMGNT2
28 muscular dystrophy-dystroglycanopathy , type b, 5 9.4 FKRP LAMA2 POMGNT2
29 muscle eye brain disease 9.4 FKRP LAMA2 POMGNT2
30 walker-warburg syndrome 9.3 FKRP LAMA2 POMGNT2
31 muscular dystrophy, congenital, lmna-related 9.3 FKRP LAMA2 TTN
32 neuromuscular disease 9.1 LAMA2 TTN
33 rigid spine muscular dystrophy 1 9.1 DYSF LAMA2 TTN
34 muscle tissue disease 9.0 CAPN3 DYSF FKRP LAMA2
35 isolated hyperckemia 9.0 CAPN3 FKRP LAMA2 TCAP
36 muscular dystrophy, limb-girdle, type 2g 8.9 CAPN3 DYSF FKRP TCAP TRIM32
37 autosomal recessive limb-girdle muscular dystrophy 8.9 CAPN3 DYSF FKRP TCAP TRIM32
38 muscular dystrophy, limb-girdle, type 2h 8.2 CAPN3 DYSF FKRP TCAP TRIM32 TTN
39 muscular dystrophy, limb-girdle, type 2f 8.2 CAPN3 DYSF FKRP TCAP TRIM32 TTN
40 muscular dystrophy, limb-girdle, type 2b 8.2 CAPN3 DYSF FKRP TCAP TRIM32 TTN
41 myopathy 7.2 CAPN3 DYSF FKRP LAMA2 TCAP TRIM32

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

Cardiovascular Heart:
dilated cardiomyopathy
left ventricular impairment

Skeletal Feet:
achilles tendon contractures

Head And Neck Mouth:
tongue hypertrophy

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

Respiratory Lung:
nocturnal hypoventilation
decreased forced vital capacity
restrictive respiratory insufficiency


Clinical features from OMIM:

607155

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

32 (show all 25)
# Description HPO Frequency HPO Source Accession
1 scoliosis 32 HP:0002650
2 kyphosis 32 HP:0002808
3 hyperlordosis 32 HP:0003307
4 macroglossia 32 HP:0000158
5 elevated serum creatine phosphokinase 32 HP:0003236
6 myalgia 32 HP:0003326
7 muscle cramps 32 HP:0003394
8 difficulty walking 32 HP:0002355
9 vertebral fusion 32 HP:0002948
10 congenital muscular dystrophy 32 HP:0003741
11 dilated cardiomyopathy 32 HP:0001644
12 frequent falls 32 HP:0002359
13 proximal muscle weakness 32 HP:0003701
14 restrictive deficit on pulmonary function testing 32 HP:0002111
15 difficulty climbing stairs 32 HP:0003551
16 waddling gait 32 HP:0002515
17 calf muscle hypertrophy 32 HP:0008981
18 toe walking 32 HP:0040083
19 pelvic girdle muscle weakness 32 HP:0003749
20 shoulder girdle muscle weakness 32 HP:0003547
21 left ventricular failure 32 HP:0005162
22 achilles tendon contracture 32 HP:0001771
23 exercise-induced myoglobinuria 32 very rare (1%) HP:0008305
24 nocturnal hypoventilation 32 HP:0002877
25 thigh hypertrophy 32 HP:0003733

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


muscle cramp, myalgia, waddling gait

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 POMGNT2 TCAP TRIM32 TTN CAPN3 DYSF
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 12)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Lisinopril Approved, Investigational Phase 2, Phase 3 83915-83-7, 76547-98-3 5362119
2
Coenzyme Q10 Approved, Investigational, Nutraceutical Phase 2, Phase 3 303-98-0 5281915
3 Angiotensin-Converting Enzyme Inhibitors Phase 2, Phase 3
4 Antihypertensive Agents Phase 2, Phase 3
5 HIV Protease Inhibitors Phase 2, Phase 3
6 Micronutrients Phase 2, Phase 3
7
protease inhibitors Phase 2, Phase 3
8 Protective Agents Phase 2, Phase 3
9 Trace Elements Phase 2, Phase 3
10 Ubiquinone Phase 2, Phase 3
11 Vitamins Phase 2, Phase 3
12 Tin Fluorides Phase 1, Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Clinical Trial of Coenzyme Q10 and Lisinopril in Muscular Dystrophies Completed NCT01126697 Phase 2, Phase 3 Coenzyme Q10 and Lisinopril
2 A Trial of PF-06252616 in Ambulatory Participants With LGMD2I Active, not recruiting NCT02841267 Phase 1, Phase 2 PF 06252616
3 Muscle MRI in Becker Muscular Dystrophy and in Limb-girdle Muscular Dystrophy Type 2I Completed NCT02165358
4 Evaluation of Limb-Girdle Muscular Dystrophy Completed NCT00893334
5 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 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

Publications for Muscular Dystrophy-Dystroglycanopathy , Type C, 5

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

(show all 16)
# Title Authors Year
1
Limb-girdle muscular dystrophy type 2I: two Chinese families and a review in Asian patients. ( 28931339 )
2017
2
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
3
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
4
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
5
Inflammatory Changes in Limb Girdle Muscular Dystrophy Type 2I. ( 24257234 )
2013
6
Protein turnover and cellular stress in mildly and severely affected muscles from patients with limb girdle muscular dystrophy type 2I. ( 23840556 )
2013
7
Limb-girdle muscular dystrophy type 2I is not rare in Taiwan. ( 23800702 )
2013
8
Level of muscle regeneration in limb-girdle muscular dystrophy type 2I relates to genotype and clinical severity. ( 21970816 )
2011
9
Cardiac pathology exceeds skeletal muscle pathology in two cases of limb-girdle muscular dystrophy type 2I. ( 19705481 )
2009
10
Clinical and mutational spectrum of limb-girdle muscular dystrophy type 2I in 11 French patients. ( 19917824 )
2009
11
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
12
High prevalence and phenotype-genotype correlations of limb girdle muscular dystrophy type 2I in Denmark. ( 16634037 )
2006
13
Clinical and molecular characterization of patients with limb-girdle muscular dystrophy type 2I. ( 16344347 )
2005
14
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
15
[The clinical spectrum of limb-girdle muscular dystrophies type 2I in cases of a mutation in the "fukutin-related- protein"-gene]. ( 15221067 )
2004
16
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 all 50)
# Gene Variation Type Significance SNP ID Assembly Location
1 FKRP NM_024301.4(FKRP): c.826C> A (p.Leu276Ile) single nucleotide variant Pathogenic rs28937900 GRCh37 Chromosome 19, 47259533: 47259533
2 FKRP NM_024301.4(FKRP): c.1364C> A (p.Ala455Asp) single nucleotide variant Pathogenic rs28937903 GRCh37 Chromosome 19, 47260071: 47260071
3 FKRP NM_024301.4(FKRP): c.1364C> A (p.Ala455Asp) single nucleotide variant Pathogenic rs28937903 GRCh38 Chromosome 19, 46756814: 46756814
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.160C> T (p.Arg54Trp) single nucleotide variant Pathogenic rs28937905 GRCh37 Chromosome 19, 47258867: 47258867
10 FKRP NM_024301.4(FKRP): c.160C> T (p.Arg54Trp) single nucleotide variant Pathogenic rs28937905 GRCh38 Chromosome 19, 46755610: 46755610
11 FKRP NM_024301.4(FKRP): c.764G> A (p.Trp255Ter) single nucleotide variant Pathogenic rs104894689 GRCh37 Chromosome 19, 47259471: 47259471
12 FKRP NM_024301.4(FKRP): c.764G> A (p.Trp255Ter) single nucleotide variant Pathogenic rs104894689 GRCh38 Chromosome 19, 46756214: 46756214
13 FKRP NM_024301.4(FKRP): c.400C> T (p.Arg134Trp) single nucleotide variant Pathogenic rs104894690 GRCh37 Chromosome 19, 47259107: 47259107
14 FKRP NM_024301.4(FKRP): c.400C> T (p.Arg134Trp) single nucleotide variant Pathogenic rs104894690 GRCh38 Chromosome 19, 46755850: 46755850
15 FKRP NM_024301.4(FKRP): c.899T> C (p.Val300Ala) single nucleotide variant Pathogenic rs104894691 GRCh37 Chromosome 19, 47259606: 47259606
16 FKRP NM_024301.4(FKRP): c.899T> C (p.Val300Ala) single nucleotide variant Pathogenic rs104894691 GRCh38 Chromosome 19, 46756349: 46756349
17 FKRP NM_024301.4(FKRP): c.919T> A (p.Tyr307Asn) single nucleotide variant Likely pathogenic rs104894692 GRCh37 Chromosome 19, 47259626: 47259626
18 FKRP NM_024301.4(FKRP): c.919T> A (p.Tyr307Asn) single nucleotide variant Likely pathogenic rs104894692 GRCh38 Chromosome 19, 46756369: 46756369
19 FKRP NM_024301.4(FKRP): c.1387A> G (p.Asn463Asp) single nucleotide variant Pathogenic rs121908110 GRCh37 Chromosome 19, 47260094: 47260094
20 FKRP NM_024301.4(FKRP): c.1387A> G (p.Asn463Asp) single nucleotide variant Pathogenic rs121908110 GRCh38 Chromosome 19, 46756837: 46756837
21 FKRP NM_024301.4(FKRP): c.941C> T (p.Thr314Met) single nucleotide variant Pathogenic rs398124395 GRCh37 Chromosome 19, 47259648: 47259648
22 FKRP NM_024301.4(FKRP): c.941C> T (p.Thr314Met) single nucleotide variant Pathogenic rs398124395 GRCh38 Chromosome 19, 46756391: 46756391
23 FKRP NM_024301.4(FKRP): c.1A> G (p.Met1Val) single nucleotide variant Pathogenic rs587777223 GRCh38 Chromosome 19, 46755451: 46755451
24 FKRP NM_024301.4(FKRP): c.1A> G (p.Met1Val) single nucleotide variant Pathogenic rs587777223 GRCh37 Chromosome 19, 47258708: 47258708
25 FKRP NM_024301.4(FKRP): c.947C> G (p.Pro316Arg) single nucleotide variant Likely pathogenic rs752582904 GRCh37 Chromosome 19, 47259654: 47259654
26 FKRP NM_024301.4(FKRP): c.947C> G (p.Pro316Arg) single nucleotide variant Likely pathogenic rs752582904 GRCh38 Chromosome 19, 46756397: 46756397
27 FKRP NM_001039885.2(FKRP): c.74C> A (p.Ser25Ter) single nucleotide variant no interpretation for the single variant rs766339195 GRCh37 Chromosome 19, 47258781: 47258781
28 FKRP NM_001039885.2(FKRP): c.74C> A (p.Ser25Ter) single nucleotide variant no interpretation for the single variant rs766339195 GRCh38 Chromosome 19, 46755524: 46755524
29 FKRP NM_024301.4(FKRP): c.76_77delTG (p.Trp26Alafs) deletion no interpretation for the single variant rs878854376 GRCh37 Chromosome 19, 47258783: 47258784
30 FKRP NM_024301.4(FKRP): c.76_77delTG (p.Trp26Alafs) deletion no interpretation for the single variant rs878854376 GRCh38 Chromosome 19, 46755526: 46755527
31 FKRP NM_024301.4(FKRP): c.545A> G (p.Tyr182Cys) single nucleotide variant Pathogenic rs543163491 GRCh37 Chromosome 19, 47259252: 47259252
32 FKRP NM_024301.4(FKRP): c.545A> G (p.Tyr182Cys) single nucleotide variant Pathogenic rs543163491 GRCh38 Chromosome 19, 46755995: 46755995
33 FKRP NM_024301.4(FKRP): c.313C> T (p.Gln105Ter) single nucleotide variant Pathogenic rs761821795 GRCh37 Chromosome 19, 47259020: 47259020
34 FKRP NM_024301.4(FKRP): c.313C> T (p.Gln105Ter) single nucleotide variant Pathogenic rs761821795 GRCh38 Chromosome 19, 46755763: 46755763
35 FKRP NM_024301.4(FKRP): c.1269_1270insT (p.Asn424Terfs) insertion Pathogenic rs772950604 GRCh37 Chromosome 19, 47259976: 47259977
36 FKRP NM_024301.4(FKRP): c.1269_1270insT (p.Asn424Terfs) insertion Pathogenic rs772950604 GRCh38 Chromosome 19, 46756719: 46756720
37 FKRP NM_024301.4(FKRP): c.1267delC (p.Arg423Alafs) deletion Pathogenic rs886044083 GRCh37 Chromosome 19, 47259974: 47259974
38 FKRP NM_024301.4(FKRP): c.1267delC (p.Arg423Alafs) deletion Pathogenic rs886044083 GRCh38 Chromosome 19, 46756717: 46756717
39 FKRP NM_024301.4(FKRP): c.1141delG (p.Ala381Glnfs) deletion Pathogenic rs886044134 GRCh37 Chromosome 19, 47259848: 47259848
40 FKRP NM_024301.4(FKRP): c.1141delG (p.Ala381Glnfs) deletion Pathogenic rs886044134 GRCh38 Chromosome 19, 46756591: 46756591
41 FKRP NM_024301.4(FKRP): c.970G> T (p.Glu324Ter) single nucleotide variant Pathogenic/Likely pathogenic rs886044183 GRCh37 Chromosome 19, 47259677: 47259677
42 FKRP NM_024301.4(FKRP): c.970G> T (p.Glu324Ter) single nucleotide variant Pathogenic/Likely pathogenic rs886044183 GRCh38 Chromosome 19, 46756420: 46756420
43 FKRP NM_024301.4(FKRP): c.738_749delCCCGCTGGCCAC (p.Pro247_Thr250del) deletion Likely pathogenic rs886044496 GRCh37 Chromosome 19, 47259445: 47259456
44 FKRP NM_024301.4(FKRP): c.738_749delCCCGCTGGCCAC (p.Pro247_Thr250del) deletion Likely pathogenic rs886044496 GRCh38 Chromosome 19, 46756188: 46756199
45 FKRP NM_024301.4(FKRP): c.1036T> C (p.Ser346Pro) single nucleotide variant Likely pathogenic rs753811189 GRCh37 Chromosome 19, 47259743: 47259743
46 FKRP NM_024301.4(FKRP): c.1036T> C (p.Ser346Pro) single nucleotide variant Likely pathogenic rs753811189 GRCh38 Chromosome 19, 46756486: 46756486
47 FKRP NM_001039885.2(FKRP): c.128C> G (p.Ser43Cys) single nucleotide variant Uncertain significance GRCh37 Chromosome 19, 47258835: 47258835
48 FKRP NM_001039885.2(FKRP): c.128C> G (p.Ser43Cys) single nucleotide variant Uncertain significance GRCh38 Chromosome 19, 46755578: 46755578
49 FKRP NM_024301.4(FKRP): c.-272G> A single nucleotide variant Pathogenic GRCh37 Chromosome 19, 47249328: 47249328
50 FKRP NM_024301.4(FKRP): c.-272G> A single nucleotide variant Pathogenic GRCh38 Chromosome 19, 46746071: 46746071

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 T-tubule GO:0030315 9.26 CAPN3 DYSF
2 I band GO:0031674 9.16 TCAP TTN
3 Z disc GO:0030018 9.13 CAPN3 TCAP TTN
4 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 16)
# Name GO ID Score Top Affiliating Genes
1 regulation of catalytic activity GO:0050790 9.56 CAPN3 TTN
2 response to calcium ion GO:0051592 9.55 CAPN3 TTN
3 cardiac muscle contraction GO:0060048 9.54 TCAP TTN
4 muscle filament sliding GO:0030049 9.52 TCAP TTN
5 muscle cell cellular homeostasis GO:0046716 9.51 CAPN3 TRIM32
6 positive regulation of proteolysis GO:0045862 9.49 CAPN3 TRIM32
7 cardiac myofibril assembly GO:0055003 9.48 TCAP TTN
8 cardiac muscle tissue morphogenesis GO:0055008 9.46 TCAP TTN
9 protein O-linked mannosylation GO:0035269 9.43 FKRP POMGNT2
10 cardiac muscle fiber development GO:0048739 9.4 TCAP TTN
11 cardiac muscle hypertrophy GO:0003300 9.37 TCAP TTN
12 skeletal muscle thin filament assembly GO:0030240 9.32 TCAP TTN
13 skeletal muscle myosin thick filament assembly GO:0030241 9.26 TCAP TTN
14 detection of muscle stretch GO:0035995 9.16 TCAP TTN
15 sarcomerogenesis GO:0048769 8.96 TCAP TTN
16 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
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
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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