MCID: MSC036
MIFTS: 57

Muscular Dystrophy-Dystroglycanopathy , Type C, 5

Categories: Genetic diseases, Rare diseases, Fetal diseases, Neuronal diseases, Mental diseases, Eye diseases, Muscle diseases, Metabolic 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 53 49 13
Lgmd2i 53 12 49 55 71 51
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2i 12 49 55 14
Limb-Girdle Muscular Dystrophy Due to Fkrp Deficiency 12 49 55
Limb-Girdle Muscular Dystrophy Type 2i 37 49 71
Mddgc5 53 12 71
Muscular Dystrophy-Dystroglycanopathy Limb-Girdle Frkp-Related 12 71
Muscular Dystrophy, Limb-Girdle, Type 2i 53 69
Muscular Dystrophy-Dystroglycanopathy, Limb-Girdle, Frkp-Related 53
Limb-Girdle Muscular Dystrophy-Dystroglycanopathy, Type C5 28
Muscular Dystrophy-Dystroglycanopathy Limb-Girdle C5 71
Muscular Dystrophy, Limb-Girdle, Type 2i; Lgmd2i 53
Muscular Dystrophy-Dystroglycanopathy Type C 5 12
Muscular Dystrophy Limb-Girdle Type 2i 12

Characteristics:

Orphanet epidemiological data:

55
autosomal recessive limb-girdle muscular dystrophy type 2i
Inheritance: Autosomal recessive; Age of onset: Adolescent,Adult,Childhood,Infancy;

OMIM:

53
Inheritance:
autosomal recessive

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


HPO:

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


Classifications:



Summaries for Muscular Dystrophy-Dystroglycanopathy , Type C, 5

NIH Rare Diseases : 49 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. Last updated: 12/21/2015

MalaCards based summary : Muscular Dystrophy-Dystroglycanopathy , Type C, 5, also known as lgmd2i, is related to muscular dystrophy, becker type and muscular dystrophy-dystroglycanopathy , type b, 5, and has symptoms including myalgia, waddling gait and scoliosis. 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 behavior/neurological and homeostasis/metabolism

OMIM : 53 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 : 71 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.

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.

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 40)
# Related Disease Score Top Affiliating Genes
1 muscular dystrophy, becker type 29.4 DYSF LAMA2
2 muscular dystrophy-dystroglycanopathy , type b, 5 29.4 FKRP LAMA2 POMGNT2
3 limb-girdle muscular dystrophy 28.5 CAPN3 DYSF FKRP TCAP TRIM32 TTN
4 dilated cardiomyopathy 28.4 FKRP LAMA2 TCAP TTN
5 muscular dystrophy 27.2 CAPN3 DYSF FKRP LAMA2 POMGNT2 TCAP
6 muscular dystrophy, limb-girdle, type 1c 10.2 DYSF FKRP
7 autosomal dominant limb-girdle muscular dystrophy type 1c 10.2 DYSF FKRP
8 autosomal recessive limb-girdle muscular dystrophy type 2f 10.2 CAPN3 DYSF
9 muscular dystrophy, limb-girdle, type 2l 10.2 DYSF FKRP
10 miyoshi muscular dystrophy 1 10.2 CAPN3 DYSF
11 muscular dystrophy, limb-girdle, type 2c 10.2 CAPN3 DYSF
12 autosomal recessive limb-girdle muscular dystrophy type 2b 10.1 CAPN3 DYSF
13 dysferlinopathy 10.1 CAPN3 DYSF
14 muscular dystrophy, limb-girdle, type 1a 10.0 CAPN3 FKRP TRIM32
15 bethlem myopathy 1 10.0 CAPN3 DYSF
16 muscular dystrophy, limb-girdle, type 2d 10.0 CAPN3 DYSF FKRP
17 isolated hyperckemia 10.0 CAPN3 FKRP TCAP
18 muscular dystrophy, congenital, 1b 9.9 FKRP LAMA2
19 muscular dystrophy, limb-girdle, type 2j 9.9 CAPN3 FKRP TTN
20 muscular dystrophy-dystroglycanopathy , type b, 6 9.9 FKRP LAMA2
21 familial isolated dilated cardiomyopathy 9.8 TCAP TTN
22 distal muscular dystrophy 9.8 CAPN3 DYSF TTN
23 ullrich congenital muscular dystrophy 1 9.8 CAPN3 LAMA2
24 myositis 9.8 CAPN3 DYSF TTN
25 muscular dystrophy, congenital, lmna-related 9.7 FKRP LAMA2
26 autosomal recessive limb-girdle muscular dystrophy type 2h 9.7 CAPN3 DYSF FKRP TRIM32
27 muscular dystrophy-dystroglycanopathy , type a, 4 9.6 FKRP LAMA2 POMGNT2
28 muscle eye brain disease 9.6 FKRP LAMA2 POMGNT2
29 walker-warburg syndrome 9.6 FKRP LAMA2 POMGNT2
30 neuromuscular disease 9.4 LAMA2 TTN
31 rigid spine muscular dystrophy 1 9.4 DYSF LAMA2 TTN
32 muscle tissue disease 9.4 CAPN3 DYSF FKRP LAMA2
33 muscular dystrophy, limb-girdle, type 2g 9.3 CAPN3 DYSF FKRP TCAP TRIM32
34 autosomal recessive limb-girdle muscular dystrophy 9.3 CAPN3 DYSF FKRP TCAP TRIM32
35 muscular dystrophy, duchenne type 9.3 LAMA2 TTN
36 muscular dystrophy, limb-girdle, type 2h 8.9 CAPN3 DYSF FKRP TCAP TRIM32 TTN
37 muscular dystrophy, limb-girdle, type 2f 8.9 CAPN3 DYSF FKRP TCAP TRIM32 TTN
38 muscular dystrophy, limb-girdle, type 2b 8.9 CAPN3 DYSF FKRP TCAP TRIM32 TTN
39 muscular dystrophy, limb-girdle, type 2a 8.9 CAPN3 DYSF FKRP TCAP TRIM32 TTN
40 myopathy 8.2 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:

53
Muscle Soft Tissue:
myalgia
waddling gait
muscle cramps
difficulty walking
proximal muscle weakness
more
Cardiovascular Heart:
dilated cardiomyopathy
left ventricular impairment

Skeletal Feet:
achilles tendon contractures

Head And Neck Mouth:
tongue hypertrophy

Skeletal Spine:
scoliosis
kyphosis
lordosis
spinal fusion

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:

31 (show all 25)
# Description HPO Frequency HPO Source Accession
1 myalgia 31 HP:0003326
2 waddling gait 31 HP:0002515
3 scoliosis 31 HP:0002650
4 kyphosis 31 HP:0002808
5 hyperlordosis 31 HP:0003307
6 macroglossia 31 HP:0000158
7 elevated serum creatine phosphokinase 31 HP:0003236
8 muscle cramps 31 HP:0003394
9 difficulty walking 31 HP:0002355
10 vertebral fusion 31 HP:0002948
11 congenital muscular dystrophy 31 HP:0003741
12 dilated cardiomyopathy 31 HP:0001644
13 proximal muscle weakness 31 HP:0003701
14 restrictive deficit on pulmonary function testing 31 HP:0002111
15 difficulty climbing stairs 31 HP:0003551
16 calf muscle hypertrophy 31 HP:0008981
17 toe walking 31 HP:0040083
18 pelvic girdle muscle weakness 31 HP:0003749
19 shoulder girdle muscle weakness 31 HP:0003547
20 left ventricular failure 31 HP:0005162
21 achilles tendon contracture 31 HP:0001771
22 frequent falls 31 HP:0002359
23 exercise-induced myoglobinuria 31 very rare (1%) HP:0008305
24 nocturnal hypoventilation 31 HP:0002877
25 thigh hypertrophy 31 HP:0003733

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:

43
# 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 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 Enrolling by invitation 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 Not Applicable
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 28 FKRP

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

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

38
Brain, Skeletal Muscle, Testes, Tongue

Publications for Muscular Dystrophy-Dystroglycanopathy , Type C, 5

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

(show all 27)
# Title Authors Year
1
Limb-girdle muscular dystrophy type 2I: two Chinese families and a review in Asian patients. ( 28931339 )
2017
2
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
3
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
4
Muscle and Heart Function Restoration in a Limb Girdle Muscular Dystrophy 2I (LGMD2I) Mouse Model by Systemic FKRP Gene Delivery. ( 25048216 )
2014
5
Protein turnover and cellular stress in mildly and severely affected muscles from patients with limb girdle muscular dystrophy type 2I. ( 23840556 )
2013
6
Inflammatory Changes in Limb Girdle Muscular Dystrophy Type 2I. ( 24257234 )
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
Asian patients with limb girdle muscular dystrophy 2I (LGMD2I). ( 21296577 )
2011
10
Clinical and mutational spectrum of limb-girdle muscular dystrophy type 2I in 11 French patients. ( 19917824 )
2009
11
Cardiac pathology exceeds skeletal muscle pathology in two cases of limb-girdle muscular dystrophy type 2I. ( 19705481 )
2009
12
Muscle protein alterations in LGMD2I patients with different mutations in the Fukutin-related protein gene. ( 18645206 )
2008
13
Heart transplantation in a child with LGMD2I presenting as isolated dilated cardiomyopathy. ( 18060779 )
2008
14
LGMD2I in a North American population. ( 18036232 )
2007
15
Biochemical and ultrastructural evidence of endoplasmic reticulum stress in LGMD2I. ( 17952692 )
2007
16
Mutation analysis in the FKRP gene provides an explanation for a rare cause of intrafamilial clinical variability in LGMD2I. ( 17113772 )
2006
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
LGMD2I presenting with a characteristic Duchenne or Becker muscular dystrophy phenotype. ( 15883334 )
2005
20
Diagnostic value of muscle MRI in differentiating LGMD2I from other LGMDs. ( 15726252 )
2005
21
Hutterite brothers both affected with two forms of limb girdle muscular dystrophy: LGMD2H and LGMD2I. ( 15886712 )
2005
22
Clinical and molecular characterization of patients with limb-girdle muscular dystrophy type 2I. ( 16344347 )
2005
23
Sub-cellular localisation of fukutin related protein in different cell lines and in the muscle of patients with MDC1C and LGMD2I. ( 16288869 )
2005
24
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
25
Abnormalities in alpha-dystroglycan expression in MDC1C and LGMD2I muscular dystrophies. ( 14742276 )
2004
26
[The clinical spectrum of limb-girdle muscular dystrophies type 2I in cases of a mutation in the "fukutin-related- protein"-gene]. ( 15221067 )
2004
27
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:

71 (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 18)
# Gene Variation Type Significance SNP ID Assembly Location
1 FKRP NM_024301.4(FKRP): c.1A> G (p.Met1Val) single nucleotide variant Pathogenic rs587777223 GRCh38 Chromosome 19, 46755451: 46755451
2 FKRP NM_024301.4(FKRP): c.826C> A (p.Leu276Ile) single nucleotide variant Pathogenic rs28937900 GRCh37 Chromosome 19, 47259533: 47259533
3 FKRP NM_024301.4(FKRP): c.387_390dupACCT (p.Asp131Thrfs) duplication Pathogenic rs587777823 GRCh38 Chromosome 19, 46755837: 46755840
4 FKRP NM_024301.4(FKRP): c.1486T> A (p.Ter496Arg) single nucleotide variant Pathogenic/Likely pathogenic rs104894682 GRCh37 Chromosome 19, 47260193: 47260193
5 FKRP NM_024301.4(FKRP): c.1364C> A (p.Ala455Asp) single nucleotide variant Pathogenic rs28937903 GRCh37 Chromosome 19, 47260071: 47260071
6 FKRP NM_024301.4(FKRP): c.160C> T (p.Arg54Trp) single nucleotide variant Pathogenic rs28937905 GRCh37 Chromosome 19, 47258867: 47258867
7 FKRP NM_024301.4(FKRP): c.764G> A (p.Trp255Ter) single nucleotide variant Pathogenic rs104894689 GRCh37 Chromosome 19, 47259471: 47259471
8 FKRP NM_024301.4(FKRP): c.400C> T (p.Arg134Trp) single nucleotide variant Pathogenic rs104894690 GRCh37 Chromosome 19, 47259107: 47259107
9 FKRP NM_024301.4(FKRP): c.899T> C (p.Val300Ala) single nucleotide variant Pathogenic rs104894691 GRCh37 Chromosome 19, 47259606: 47259606
10 FKRP NM_024301.4(FKRP): c.919T> A (p.Tyr307Asn) single nucleotide variant Pathogenic/Likely pathogenic rs104894692 GRCh37 Chromosome 19, 47259626: 47259626
11 FKRP NM_024301.4(FKRP): c.545A> G (p.Tyr182Cys) single nucleotide variant Pathogenic rs543163491 GRCh37 Chromosome 19, 47259252: 47259252
12 FKRP NM_024301.4(FKRP): c.313C> T (p.Gln105Ter) single nucleotide variant Pathogenic rs761821795 GRCh37 Chromosome 19, 47259020: 47259020
13 FKRP NM_024301.4(FKRP): c.1269_1270insT (p.Asn424Terfs) insertion Pathogenic rs772950604 GRCh37 Chromosome 19, 47259976: 47259977
14 FKRP NM_024301.4(FKRP): c.1267delC (p.Arg423Alafs) deletion Pathogenic rs886044083 GRCh37 Chromosome 19, 47259974: 47259974
15 FKRP NM_024301.4(FKRP): c.1141delG (p.Ala381Glnfs) deletion Pathogenic rs886044134 GRCh37 Chromosome 19, 47259848: 47259848
16 FKRP NM_024301.4(FKRP): c.970G> T (p.Glu324Ter) single nucleotide variant Pathogenic/Likely pathogenic rs886044183 GRCh37 Chromosome 19, 47259677: 47259677
17 FKRP NM_024301.4(FKRP): c.738_749delCCCGCTGGCCAC (p.Pro247_Thr250del) deletion Likely pathogenic rs886044496 GRCh37 Chromosome 19, 47259445: 47259456
18 FKRP NM_024301.4(FKRP): c.1036T> C (p.Ser346Pro) single nucleotide variant Likely pathogenic rs753811189 GRCh37 Chromosome 19, 47259743: 47259743

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 15)
# Name GO ID Score Top Affiliating Genes
1 response to calcium ion GO:0051592 9.55 CAPN3 TTN
2 cardiac muscle contraction GO:0060048 9.54 TCAP TTN
3 muscle filament sliding GO:0030049 9.52 TCAP TTN
4 positive regulation of proteolysis GO:0045862 9.51 CAPN3 TRIM32
5 muscle cell cellular homeostasis GO:0046716 9.49 CAPN3 TRIM32
6 protein O-linked mannosylation GO:0035269 9.48 FKRP POMGNT2
7 cardiac myofibril assembly GO:0055003 9.46 TCAP TTN
8 cardiac muscle tissue morphogenesis GO:0055008 9.43 TCAP TTN
9 cardiac muscle hypertrophy GO:0003300 9.4 TCAP TTN
10 cardiac muscle fiber development GO:0048739 9.37 TCAP TTN
11 skeletal muscle thin filament assembly GO:0030240 9.32 TCAP TTN
12 detection of muscle stretch GO:0035995 9.26 TCAP TTN
13 skeletal muscle myosin thick filament assembly GO:0030241 9.16 TCAP TTN
14 sarcomerogenesis GO:0048769 8.96 TCAP TTN
15 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
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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