Muscular Dystrophy-Dystroglycanopathy , Type C, 5 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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
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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:

MalaCards categories:
Global: Genetic diseases Rare diseases Metabolic diseases Fetal diseases
Anatomical: Neuronal diseases Muscle diseases Mental diseases Eye diseases

See all MalaCards categories (disease lists)

ICD10: ³³ ³⁴

Diseases of the nervous system

Diseases of myoneural junction and muscle

Primary disorders of muscles

Muscular dystrophy

Orphanet: ⁵⁹

Rare neurological diseases

Inborn errors of metabolism

External Ids:

OMIM ⁵⁷ 607155

Disease Ontology ¹² DOID:0110299

ICD10 ³³ G71.0

Orphanet ⁵⁹ ORPHA34515

UMLS via Orphanet ⁷⁴ C1846672

ICD10 via Orphanet ³⁴ G71.0

MedGen ⁴² C1846672

MeSH ⁴⁴ D049288

UMLS ⁷³ C1846672

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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.

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

Diseases in the Muscular Dystrophy-Dystroglycanopathy family:

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:

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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

Sources

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

Lisinopril

Approved, Investigational

Phase 2, Phase 3

83915-83-7, 76547-98-3

5362119

Synonyms:

(2S)-1-[(2S)-6-amino-2-[[(2S)-1-hydroxy-1-oxo-4-phenylbutan-2-yl]amino]hexanoyl]pyrrolidine-2-carboxylic acid

(S)-1-(N(2)-(1-carboxy-3-phenylpropyl)-L-lysyl)-L-proline

(S)-1-(N(2)-(1-Carboxy-3-phenylpropyl)-L-lysyl)-L-proline

(S)-1-(N(sup 2)-(1-Carboxy-3-phenylpropyl)-L-lysyl)-L-proline

(S)-1-(N2-(1-Carboxy-3-phenylpropyl)-L-lysyl)-L-proline

[N2-[(S)-1-CARBOXY-3-phenylpropyl]-L-lysyl-L-proline

[N2-[(S)-1-CARBOXY-3-PHENYLPROPYL]-L-LYSYL-L-PROLINE

1-(N2-(1-Carboxy-3-phenylpropyl)-L-lysyl)-L-proline

1-[Nalpha-[(S)-1-Carboxy-3-phenylpropyl]-L-lysyl]-L-proline

76547-98-3

77726-95-5

83915-83-7 (Parent)

AC1NSFPF

Acerbon

Acercomp

Alapril

BB_NC-1454

BIDD:GT0755

BPBio1_000290

BRD-K67966701-335-03-5

BRN 4276619

BSPBio_000262

C21H31N3O5

Carace

CCRIS 3568

CHEBI:43755

CHEMBL1237

CID5362119

Cipral

Cipril

Coric

D08131

DB00722

DivK1c_001037

Doneka

EINECS 278-488-1

HMS1921B14

HMS2090O14

HMS2092L21

HMS503O15

I06-1895

ICI-209K

IDI1_001037

Inhibril

Inopril

KBio1_001037

KBio2_000977

KBio2_003545

KBio2_006113

KBio3_002002

KBioGR_001599

KBioSS_000977

L0220

Linopril

Linvas

Lipril

Lisinal

lisinopril

Lisinopril

Lisinopril (anhydrous)

Lisinopril (INN)

Lisinopril anhydrous

Lisinopril Dihydrate

Lisinopril maleate (1:1)

Lisinopril sulfate (1:2)

Lisinoprilum

Lisinoprilum [Latin]

Lisipril

Lisoril

Lispril

Longes

Loril

LPR

LS-118899

Lysinopril

MK 521

MK 522

MK-521

MLS001306436

MLS001306481

MolPort-002-507-428

N-(1(S)-Carboxy-3-phenylpropyl)-L-lysyl-L-proline

N(2)-[(1S)-1-carboxy-3-phenylpropyl]-L-lysyl-L-proline

N2-((S)-1-Carboxy-3-phenylpropyl)-L-lysyl-L-proline

N2-[(1S)-1-carboxy-3-phenylpropyl]-L-lysyl-L-proline

NCGC00179623-01

NINDS_001037

Noperten

Novatec

Presiten

Prestwick0_000301

Prestwick1_000301

Prestwick2_000301

Prestwick3_000301

Prinil

Prinivil

Prinzide

Renacor

Sinopril

Sinopryl

SMR000544473

SPBio_001351

SPBio_002481

Spectrum_000497

SPECTRUM1501217

Spectrum2_001456

Spectrum3_000941

Spectrum4_001040

Spectrum5_000995

Tensopril

Tensyn

Tersif

TL8005499

Vivatec

Zestoretic

Zestril

Zestril (TN)

Coenzyme Q10

Approved, Investigational, Nutraceutical

Phase 2, Phase 3

303-98-0

5281915

Synonyms:

(all-e)-2-(3,7,11,15,19,23,27,31,35,39-Decamethyl-2,6,10,14,18,22,26,30,34,38-tetracontadecaenyl)-5,6-dimethoxy-3-methyl-2,5-cyclohexadiene-1,4-dione

(all-e)-2,3-Dimethoxy-5-methyl-6-(3,7,11,15,19,23,27,31-octamethyl-2,6,10,14,18,22,26,30-dotriacontaoctaenyl)-2,5-cyclohexadiene-1,4-dione

2-((all-e)-3,7,11,15,19,23,27,31,35,39-Decamethyl-2,6,10,14,18,22,26,30,34,38-tetracontadecaenyl)-5,6-dimethoxy-3-methyl-P-benzoquinone

2-(3,7,11,15,19,23,27,31,35,39-Decamethyl-2,6,10,14,18,22,26,30,34,38-tetracontadecaenyl)-5,6-dimethoxy-3-methyl-P-benzoquinone

2,3-Dimethoxy-5-methyl-6-decaprenylbenzoquinone

2-[(2E,6E,10E,14E,18E,22E,26E,30E,34E)-3,7,11,15,19,23,27,31,35,39-Decamethyl-2,6,10,14,18,22,26,30,34,38-tetracontadecaenyl]-5,6-dimethoxy-3-methyl- 2,5-cyclohexadiene-1,4-dione

2-[(2E,6E,10E,14E,18E,22E,26E,30E,34E)-3,7,11,15,19,23,27,31,35,39-Decamethyltetraconta-2,6,10,14,18,22,26,30,34,38-decaen-1-yl]-5,6-dimethoxy-3-methyl-1,4-benzoquinone

4-Ethyl-5-fluoropyrimidine

Adelir

all-trans-Ubiquinone

Aqua Q 10l10

Aqua Q10

bio-Quinon

bio-Quinone Q10

Coenzyme Q10

Coenzyme Q-10

CO-Enzyme Q10

Coenzyme Q10, (Z,Z,Z,Z,Z,Z,e,e,e)-isomer

Coenzyme Q10, ion (1-), (all-e)-isomer

CoQ

CoQ 10

CoQ10

Ensorb

Kaneka Q10

Kudesan

Li-Q-sorb

Liquid-Q

Neuquinon

Neuquinone

PureSorb Q 40

Q 10AA

Q 199

Q10

Q-Gel

Q-Gel 100

Q-Ter

Ubidecarenone

Ubiquinone

Ubiquinone 10

Ubiquinone 50

Ubiquinone Q10

UBIQUINONE-10

Ubisemiquinone

Ubisemiquinone radical

Unbiquinone

Unispheres Q 10

Angiotensin-Converting Enzyme Inhibitors

Phase 2, Phase 3

Antihypertensive Agents

Phase 2, Phase 3

HIV Protease Inhibitors

Phase 2, Phase 3

Micronutrients

Phase 2, Phase 3

protease inhibitors

Phase 2, Phase 3

Protective Agents

Phase 2, Phase 3

Trace Elements

Phase 2, Phase 3

Ubiquinone

Phase 2, Phase 3

Vitamins

Phase 2, Phase 3

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

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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

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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

Sources

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 )	Wang D.N....Wang N.	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 )	Alhamidi M....Nilssen A.9.	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 )	Frattini P....Torrente Y.	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 )	Krag T.O....Vissing J.	2015
5	Inflammatory Changes in Limb Girdle Muscular Dystrophy Type 2I. ( 24257234 )	McMillan H.J....Michaud J.	2013
6	Protein turnover and cellular stress in mildly and severely affected muscles from patients with limb girdle muscular dystrophy type 2I. ( 23840556 )	Hauerslev S....Krag T.O.	2013
7	Limb-girdle muscular dystrophy type 2I is not rare in Taiwan. ( 23800702 )	Liang W.C....Jong Y.J.	2013
8	Level of muscle regeneration in limb-girdle muscular dystrophy type 2I relates to genotype and clinical severity. ( 21970816 )	Krag T.O....Vissing J.	2011
9	Cardiac pathology exceeds skeletal muscle pathology in two cases of limb-girdle muscular dystrophy type 2I. ( 19705481 )	Margeta M....Moore S.A.	2009
10	Clinical and mutational spectrum of limb-girdle muscular dystrophy type 2I in 11 French patients. ( 19917824 )	Bourteel H....Stojkovic T.	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 )	von der Hagen M....Huebner A.	2006
12	High prevalence and phenotype-genotype correlations of limb girdle muscular dystrophy type 2I in Denmark. ( 16634037 )	Sveen M.L....Vissing J.	2006
13	Clinical and molecular characterization of patients with limb-girdle muscular dystrophy type 2I. ( 16344347 )	Boito C.A....Pegoraro E.	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 )	Frosk P....Wrogemann K.	2005
15	[The clinical spectrum of limb-girdle muscular dystrophies type 2I in cases of a mutation in the &quot;fukutin-related- protein&quot;-gene]. ( 15221067 )	Krasnianski M....Zierz S.	2004
16	The phenotype of limb-girdle muscular dystrophy type 2I. ( 12707425 )	Poppe M....Bushby K.	2003

Sources

Genes for Muscular Dystrophy-Dystroglycanopathy , Type C, 5

Genes related to Muscular Dystrophy-Dystroglycanopathy , Type C, 5 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	FKRP	Fukutin Related Protein	Protein Coding	1706.91	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative germline mutation ⁵⁹ Causative variation ⁷⁵ Genetic Tests ²⁹ Pathogenic/Likely pathogenic ⁶ DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵ GeneCards inferred via : DISEASES inferred (show sections)	11741828 14647208 14523375 (more) 15121789 12666124 12707439 15580560 15886712 16634037 22981120 16288869 14523375 18645206 15580560 15574464 11741828 15833432 15316618 17952692 18671187 15221067 16344347 14959561 14652796 17351538 12654965 12707439 18593008 18036232 17994539 12471058 19900540 14647208 17554798 16786213 14742276 17055682 16055117 17113772 19917824 19705481 12707425 15726252
2	CAPN3	Calpain 3	Protein Coding	28.2	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵ GeneCards inferred via : DISEASES inferred (show sections)	14959561 15689361 18337726 (more) 15316618 18645206
3	TRIM32	Tripartite Motif Containing 32	Protein Coding	27.73	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵ GeneCards inferred via : DISEASES inferred (show sections)	14959561 15316618
4	DYSF	Dysferlin	Protein Coding	27.55	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵ GeneCards inferred via : DISEASES inferred (show sections)	14959561 15316618 18645206
5	TCAP	Titin-Cap	Protein Coding	25.89	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵ GeneCards inferred via : DISEASES inferred (show sections)	14959561 15316618 18645206
6	TTN	Titin	Protein Coding	22.26	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵ GeneCards inferred via : DISEASES inferred (show sections)	14959561 15316618
7	LAMA2	Laminin Subunit Alpha 2	Protein Coding	20.36	Novoseek inferred ⁵⁵ GeneCards inferred via : Novoseek inferred (show sections)	18645206
8	POMGNT2	Protein O-Linked Mannose N-Acetylglucosaminyltransferase 2 (Beta 1,4-)	Protein Coding	19.96	Novoseek inferred ⁵⁵ GeneCards inferred via : Novoseek inferred (show sections)	14523375 17952692

Sources

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

Sources

Expression for Muscular Dystrophy-Dystroglycanopathy , Type C, 5

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

Sources

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	Striated Muscle Contraction ¹ ⁶⁶	10.81	TCAP TTN
2	Mannose type O-glycan biosynthesis ³⁷	9.98	FKRP POMGNT2

Sources

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

Sources for Muscular Dystrophy-Dystroglycanopathy , Type C, 5

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

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²³ GeneHancer via GeneCards

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²⁶ GenomeRNAi

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²⁸ GO

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³¹ HMDB

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³³ ICD10

³⁴ ICD10 via Orphanet

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³⁷ KEGG

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⁴⁰ LOVD

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⁵⁷ OMIM

⁵⁸ OMIM via Orphanet

⁵⁹ Orphanet

⁶⁰ PathCards

⁶¹ PharmGKB

⁶² PubMed

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⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ SNOMED-CT via Orphanet

⁷¹ TGDB

⁷² Tocris

⁷³ UMLS

⁷⁴ UMLS via Orphanet

⁷⁵ UniProtKB/Swiss-Prot

⁷⁶ Wikipedia