MCID: MSC036
MIFTS: 50

Muscular Dystrophy-Dystroglycanopathy , Type C, 5 malady

Genetic diseases, Rare diseases, Neuronal diseases, Metabolic diseases, Muscle diseases, Mental diseases, Eye diseases, Fetal diseases categories

Aliases & Classifications for Muscular Dystrophy-Dystroglycanopathy , Type C, 5

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Sources:
49OMIM, 11diseasecard, 45NIH Rare Diseases, 32LifeMap Discovery®, 22GeneTests, 67UniProtKB/Swiss-Prot, 51Orphanet, 47Novoseek, 28ICD10 via Orphanet, 34MedGen, 36MeSH
See all sources

Aliases & Descriptions for Muscular Dystrophy-Dystroglycanopathy , Type C, 5:

Name: Muscular Dystrophy-Dystroglycanopathy , Type C, 5 49 11 45
Lgmd2i 45 22 47 51 67
Limb-Girdle Muscular Dystrophy Type 2i 32 45 22 67
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2i 45 51
Limb-Girdle Muscular Dystrophy Due to Fkrp Deficiency 45 51
 
Muscular Dystrophy-Dystroglycanopathy Limb-Girdle Frkp-Related 67
Muscular Dystrophy-Dystroglycanopathy Limb-Girdle C5 67
Lgmd 2i 22
Mddgc5 67


Classifications:



Characteristics (Orphanet epidemiological data):

51
lgmd2i:
Inheritance: Autosomal recessive; Age of onset: Childhood


External Ids:

OMIM49 607155
Orphanet51 34515
ICD10 via Orphanet28 G71.0
MedGen34 C1846672
MeSH36 D049288

Summaries for Muscular Dystrophy-Dystroglycanopathy , Type C, 5

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OMIM:49 MDGDC5 is an autosomal recessive muscular dystrophy characterized by variable age at onset, normal cognition, and no... (607155) more...

MalaCards based summary: Muscular Dystrophy-Dystroglycanopathy , Type C, 5, also known as lgmd2i, is related to muscular dystrophy and becker muscular dystrophy, and has symptoms including exercise-induced myoglobinuria, autosomal recessive inheritance and macroglossia. An important gene associated with Muscular Dystrophy-Dystroglycanopathy , Type C, 5 is FKRP (Fukutin Related Protein), and among its related pathways is Striated Muscle Contraction. Affiliated tissues include skeletal muscle, brain and myeloid, and related mouse phenotypes are muscle and behavior/neurological.

UniProtKB/Swiss-Prot:67 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

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Diseases in the Muscular Dystrophy-Dystroglycanopathy family:

Muscular Dystrophy-Dystroglycanopathy , Type a, 3 Muscular Dystrophy-Dystroglycanopathy , Type B, 3
Muscular Dystrophy-Dystroglycanopathy , Type C, 3 Muscular Dystrophy-Dystroglycanopathy , Type a, 14
Muscular Dystrophy-Dystroglycanopathy , Type C, 14 Muscular Dystrophy-Dystroglycanopathy , Type B, 14
Muscular Dystrophy-Dystroglycanopathy , Type C, 9 Muscular Dystrophy-Dystroglycanopathy , Type a, 9
Muscular Dystrophy-Dystroglycanopathy , Type a, 7 Muscular Dystrophy-Dystroglycanopathy , Type C, 7
Muscular Dystrophy-Dystroglycanopathy , Type a, 12 Muscular Dystrophy-Dystroglycanopathy , Type C, 12
Muscular Dystrophy-Dystroglycanopathy , Type a, 4 Muscular Dystrophy-Dystroglycanopathy , Type B, 4
Muscular Dystrophy-Dystroglycanopathy , Type C, 4 Muscular Dystrophy-Dystroglycanopathy , Type a, 1
Muscular Dystrophy-Dystroglycanopathy , Type B, 1 Muscular Dystrophy-Dystroglycanopathy , Type C, 1
Muscular Dystrophy-Dystroglycanopathy , Type a, 13 Muscular Dystrophy-Dystroglycanopathy , Type a, 10
Muscular Dystrophy-Dystroglycanopathy , Type a, 2 Muscular Dystrophy-Dystroglycanopathy , Type B, 2
Muscular Dystrophy-Dystroglycanopathy , Type C, 2 Muscular Dystrophy-Dystroglycanopathy , Type a, 5
Muscular Dystrophy-Dystroglycanopathy , Type B, 5 muscular dystrophy-dystroglycanopathy , type c, 5
Muscular Dystrophy-Dystroglycanopathy , Type a, 6 Muscular Dystrophy-Dystroglycanopathy , Type B, 6

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

(show top 50)    (show all 64)
idRelated DiseaseScoreTop Affiliating Genes
1muscular dystrophy30.9CAPN3, DYSF, FKRP, TCAP, TTN
2becker muscular dystrophy30.3CHKB, LAMA2, TTN
3limb-girdle muscular dystrophy11.1
4medulloblastoma10.5
5muscle hypertrophy10.5
6muscular dystrophy, limb-girdle, type 2a10.5
7ewing sarcoma10.5
8cardiomyopathy, dilated, 3b10.5
9duchenne muscular dystrophy10.5
10calpainopathy10.5
11malignant glioma10.5
12muscle disorders10.5
13adult medulloblastoma10.5
14neuroectodermal tumor10.5
15medulloepithelioma10.5
16astroblastoma10.5
17atrophic muscular disease10.5
18muscular atrophy10.5
19embryonal cancer10.5
20germ cell and embryonal cancer10.5
21germ cell cancer10.5
22muscle tissue disease10.5
23myopathy10.5
24myositis10.5
25nervous system cancer10.5
26neuromuscular disease10.5
27tongue cancer10.5
28tongue disease10.5
29x-linked disease10.5
30muscular dystrophy, duchenne and becker types10.5
31progressive muscular dystrophy10.5
32autosomal recessive limb-girdle muscular dystrophy type 2a10.5
33isolated pierre robin sequence10.2CAPN3, FKRP
34muscular dystrophy, limb-girdle, type ic10.1DYSF, FKRP
35muscular dystrophy-dystroglycanopathy , type c, 110.1
36dilated cardiomyopathy10.1
37cardiomyopathy10.1
38dystonia/parkinsonism, hypermanganesemia, polycythemia, and chronic liver disease10.1CAPN3, DYSF
39immunodeficiency 34, mycobacteriosis, x-linked10.0DYSF, FKRP, LAMA2
40miyoshi muscular dystrophy 19.9CAPN3, CHKB, DYSF
41col12a1-related muscle diseases9.9FKRP, POMGNT2
42fktn-related muscle diseases9.9FKRP, LAMA2, POMGNT2
43rippling muscle disease9.9DYSF, TTN
44muscular atrophy ataxia retinitis pigmentosa and diabetes mellitus9.9FKRP, LAMA2, POMGNT2
45ullrich congenital muscular dystrophy 19.9CAPN3, LAMA2
46septate vagina9.8TCAP, TTN
47lennox-gastaut syndrome9.8FKRP, LAMA2, POMGNT2
48acute pericementitis9.8CAPN3, DYSF, TTN
49myotonic disease9.6CAPN3, CHKB, DYSF, TTN
50drug-induced hepatitis9.6FKRP, LAMA2, TCAP, 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 for Muscular Dystrophy-Dystroglycanopathy , Type C, 5

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Symptoms by clinical synopsis from OMIM:

607155

Clinical features from OMIM:

607155

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

(show all 27)
id Description Frequency HPO Source Accession
1 exercise-induced myoglobinuria 25% HP:0008305
2 autosomal recessive inheritance HP:0000007
3 macroglossia HP:0000158
4 dilated cardiomyopathy HP:0001644
5 achilles tendon contracture HP:0001771
6 restrictive respiratory insufficiency HP:0002111
7 difficulty walking HP:0002355
8 frequent falls HP:0002359
9 waddling gait HP:0002515
10 scoliosis HP:0002650
11 kyphosis HP:0002808
12 nocturnal hypoventilation HP:0002877
13 vertebral fusion HP:0002948
14 elevated serum creatine phosphokinase HP:0003236
15 hyperlordosis HP:0003307
16 myalgia HP:0003326
17 muscle cramps HP:0003394
18 shoulder girdle muscle weakness HP:0003547
19 difficulty climbing stairs HP:0003551
20 proximal muscle weakness HP:0003701
21 thigh hypertrophy HP:0003733
22 congenital muscular dystrophy HP:0003741
23 pelvic girdle muscle weakness HP:0003749
24 variable expressivity HP:0003828
25 impaired left ventricular function HP:0005162
26 calf muscle hypertrophy HP:0008981
27 toe walking HP:0040083

Drugs & Therapeutics for Muscular Dystrophy-Dystroglycanopathy , Type C, 5

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Drugs for Muscular Dystrophy-Dystroglycanopathy , Type C, 5 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Lisinoprilapproved, investigationalPhase 2, Phase 311283915-83-75362119
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
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
CCRIS 3568
CHEBI:43755
CHEMBL1237
CID5362119
Carace
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
LPR
LS-118899
Linopril
Linvas
Lipril
Lisinal
Lisinopril
Lisinopril (INN)
 
Lisinopril (anhydrous)
Lisinopril 10mg
Lisinopril 2.5mg
Lisinopril 20mg
Lisinopril 40mg
Lisinopril 5mg
Lisinopril Dihydrate
Lisinopril anhydrous
Lisinoprilum
Lisinoprilum [Latin]
Lisipril
Lisoril
Lispril
Longes
Loril
Lysinopril
MK 521
MK 522
MK-521
MLS001306436
MLS001306481
MolPort-002-507-428
N(2)-[(1S)-1-carboxy-3-phenylpropyl]-L-lysyl-L-proline
N-(1(S)-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
SMR000544473
SPBio_001351
SPBio_002481
SPECTRUM1501217
Sinopril
Sinopryl
Spectrum2_001456
Spectrum3_000941
Spectrum4_001040
Spectrum5_000995
Spectrum_000497
TL8005499
Tensopril
Tensyn
Tersif
Vivatec
Zestoretic
Zestril
Zestril (TN)
[N2-[(S)-1-CARBOXY-3-PHENYLPROPYL]-L-LYSYL-L-PROLINE
[N2-[(S)-1-CARBOXY-3-phenylpropyl]-L-lysyl-L-proline
lisinopril
2UbiquinonePhase 2, Phase 390
3
Coenzyme Q10NutraceuticalPhase 2, Phase 3101303-98-05281915
Synonyms:
(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
(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
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-[(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
4-Ethyl-5-fluoropyrimidine
Aqua Q 10L10
Aqua Q10
Bio-Quinon
Bio-Quinone Q10
CoQ10
Coenzyme Q10
Ensorb
Kaneka Q10
Kudesan
 
Li-Q-Sorb
Liquid-Q
Neuquinon
Neuquinone
PureSorb Q 40
Q 10AA
Q-Gel
Q-Gel 100
Ubidecarenone
Ubiquinone 10
Ubiquinone 50
Ubiquinone Q10
Ubiquinone-10
Unbiquinone
Unispheres Q 10

Interventional clinical trials:

idNameStatusNCT IDPhase
1Clinical Trial of Coenzyme Q10 and Lisinopril in Muscular DystrophiesEnrolling by invitationNCT01126697Phase 2, Phase 3
2Evaluation of Limb-Girdle Muscular DystrophyCompletedNCT00893334
3Muscle MRI in Becker Muscular Dystrophy and in Limb-girdle Muscular Dystrophy Type 2IRecruitingNCT02165358
4Congenital Muscle Disease Study of Patient and Family Reported Medical InformationRecruitingNCT01403402

Search NIH Clinical Center for Muscular Dystrophy-Dystroglycanopathy , Type C, 5

Genetic Tests for Muscular Dystrophy-Dystroglycanopathy , Type C, 5

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Genetic tests related to Muscular Dystrophy-Dystroglycanopathy , Type C, 5:

id Genetic test Affiliating Genes
1 Limb-Girdle Muscular Dystrophy Type 2i22

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

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

33
Skeletal muscle, Brain, Myeloid, B cells, Eye

Animal Models for Muscular Dystrophy-Dystroglycanopathy , Type C, 5 or affiliated genes

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

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053696.8CAPN3, CHKB, DYSF, FKRP, LAMA2, TCAP
2MP:00053866.8CHKB, DYSF, FKRP, LAMA2, TCAP, TRIM32
3MP:00053766.7CAPN3, CHKB, DYSF, FKRP, LAMA2, TCAP

Publications for Muscular Dystrophy-Dystroglycanopathy , Type C, 5

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Variations for Muscular Dystrophy-Dystroglycanopathy , Type C, 5

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

67 (show all 18)
id Symbol AA change Variation ID SNP ID
1FKRPp.Arg143SerVAR_018282rs148206382
2FKRPp.Leu276IleVAR_018285rs28937900
3FKRPp.Arg312CysVAR_018287
4FKRPp.Pro316ArgVAR_018289
5FKRPp.Arg339LeuVAR_018291
6FKRPp.Arg54TrpVAR_019272rs28937905
7FKRPp.Tyr307AsnVAR_022850
8FKRPp.Pro316SerVAR_022851
9FKRPp.Asp360AsnVAR_022853
10FKRPp.Pro462SerVAR_022856
11FKRPp.Val79MetVAR_065055rs104894683
12FKRPp.Arg134TrpVAR_065056
13FKRPp.Val160PheVAR_065057
14FKRPp.Tyr182CysVAR_065058
15FKRPp.Thr293IleVAR_065059
16FKRPp.Val300AlaVAR_065060
17FKRPp.Val300MetVAR_065061
18FKRPp.Pro358LeuVAR_065062

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

5 (show all 12)
id Gene Variation Type Significance SNP ID Assembly Location
1FKRPNM_024301.4(FKRP): c.826C> A (p.Leu276Ile)single nucleotide variantPathogenicrs28937900GRCh37Chr 19, 47259533: 47259533
2FKRPNM_024301.4(FKRP): c.387_390dupACCT (p.Asp131Thrfs)duplicationPathogenicrs587777823GRCh38Chr 19, 46755837: 46755840
3FKRPNM_024301.4(FKRP): c.1486T> A (p.Ter496Arg)single nucleotide variantPathogenicrs104894682GRCh37Chr 19, 47260193: 47260193
4FKRPNM_024301.4(FKRP): c.1364C> A (p.Ala455Asp)single nucleotide variantPathogenicrs28937903GRCh37Chr 19, 47260071: 47260071
5FKRPNM_024301.4(FKRP): c.160C> T (p.Arg54Trp)single nucleotide variantPathogenicrs28937905GRCh37Chr 19, 47258867: 47258867
6FKRPNM_024301.4(FKRP): c.235G> A (p.Val79Met)single nucleotide variantPathogenicrs104894683GRCh37Chr 19, 47258942: 47258942
7FKRPNM_024301.4(FKRP): c.764G> A (p.Trp255Ter)single nucleotide variantPathogenicrs104894689GRCh37Chr 19, 47259471: 47259471
8FKRPNM_024301.4(FKRP): c.400C> T (p.Arg134Trp)single nucleotide variantPathogenicrs104894690GRCh37Chr 19, 47259107: 47259107
9FKRPNM_024301.4(FKRP): c.899T> C (p.Val300Ala)single nucleotide variantPathogenicrs104894691GRCh37Chr 19, 47259606: 47259606
10FKRPNM_024301.4(FKRP): c.919T> A (p.Tyr307Asn)single nucleotide variantPathogenicrs104894692GRCh37Chr 19, 47259626: 47259626
11FKRPNM_024301.4(FKRP): c.1387A> G (p.Asn463Asp)single nucleotide variantPathogenicrs121908110GRCh37Chr 19, 47260094: 47260094
12FKRPNM_024301.4(FKRP): c.941C> T (p.Thr314Met)single nucleotide variantLikely pathogenic, Pathogenicrs398124395GRCh37Chr 19, 47259648: 47259648

Expression for genes affiliated with Muscular Dystrophy-Dystroglycanopathy , Type C, 5

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

Pathways for genes affiliated with Muscular Dystrophy-Dystroglycanopathy , Type C, 5

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Pathways related to Muscular Dystrophy-Dystroglycanopathy , Type C, 5 according to GeneCards Suite gene sharing:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
8.8DYSF, TCAP, TTN

GO Terms for genes affiliated with Muscular Dystrophy-Dystroglycanopathy , Type C, 5

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Cellular components related to Muscular Dystrophy-Dystroglycanopathy , Type C, 5 according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1T-tubuleGO:00303159.9CAPN3, DYSF
2sarcolemmaGO:00423839.3DYSF, FKRP, LAMA2
3I bandGO:00316749.1TCAP, TTN
4Z discGO:00300188.5CAPN3, TCAP, TTN

Biological processes related to Muscular Dystrophy-Dystroglycanopathy , Type C, 5 according to GeneCards Suite gene sharing:

(show all 17)
idNameGO IDScoreTop Affiliating Genes
1protein O-linked mannosylationGO:003526910.0FKRP, POMGNT2
2positive regulation of proteolysisGO:00458629.9CAPN3, TRIM32
3cardiac muscle hypertrophyGO:00033009.6TCAP, TTN
4skeletal muscle thin filament assemblyGO:00302409.6TCAP, TTN
5skeletal muscle myosin thick filament assemblyGO:00302419.6TCAP, TTN
6detection of muscle stretchGO:00359959.6TCAP, TTN
7cardiac muscle fiber developmentGO:00487399.6TCAP, TTN
8sarcomerogenesisGO:00487699.6TCAP, TTN
9cardiac myofibril assemblyGO:00550039.6TCAP, TTN
10response to calcium ionGO:00515929.6CAPN3, TTN
11cardiac muscle tissue morphogenesisGO:00550089.5TCAP, TTN
12adult heart developmentGO:00075129.4TCAP, TTN
13regulation of catalytic activityGO:00507909.2CAPN3, TTN
14cardiac muscle contractionGO:00600489.2TCAP, TTN
15sarcomere organizationGO:00452149.1CAPN3, TCAP, TTN
16muscle organ developmentGO:00075178.9CAPN3, CHKB, LAMA2
17muscle filament slidingGO:00300498.9TCAP, TTN

Molecular functions related to Muscular Dystrophy-Dystroglycanopathy , Type C, 5 according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1titin bindingGO:00314329.7CAPN3, TCAP
2protein self-associationGO:00436219.0TRIM32, TTN
3structural constituent of muscleGO:00083078.8CAPN3, TCAP, TTN

Sources for Muscular Dystrophy-Dystroglycanopathy , Type C, 5

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet