MCID: MSC036
MIFTS: 54

Muscular Dystrophy-Dystroglycanopathy , Type C, 5 malady

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

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

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

Name: Muscular Dystrophy-Dystroglycanopathy , Type C, 5 51 47 12
Lgmd2i 11 47 24 53 69 49
Limb-Girdle Muscular Dystrophy Type 2i 34 47 24 69
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2i 11 47 53
Limb-Girdle Muscular Dystrophy Due to Fkrp Deficiency 11 47 53
Muscular Dystrophy-Dystroglycanopathy Limb-Girdle Frkp-Related 11 69
 
Muscular Dystrophy-Dystroglycanopathy Limb-Girdle C5 69 26
Mddgc5 11 69
Muscular Dystrophy-Dystroglycanopathy Type C 5 11
Muscular Dystrophy, Limb-Girdle, Type 2i 67
Muscular Dystrophy Limb-Girdle Type 2i 11
Lgmd 2i 24

Characteristics:

Orphanet epidemiological data:

53
lgmd2i:
Inheritance: Autosomal recessive; Age of onset: Adolescent,Adult,Childhood,Infancy

HPO:

63
muscular dystrophy-dystroglycanopathy , type c, 5:
Inheritance: autosomal recessive inheritance
Onset and clinical course: variable expressivity

Classifications:



External Ids:

OMIM51 607155
Disease Ontology11 DOID:0110299
ICD1029 G71.0
Orphanet53 ORPHA34515
ICD10 via Orphanet30 G71.0
MedGen36 C1846672
MeSH38 D049288

Summaries for Muscular Dystrophy-Dystroglycanopathy , Type C, 5

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NIH Rare Diseases:47 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, limb-girdle, type 2a and muscular dystrophy-dystroglycanopathy , type c, 1, and has symptoms including exercise-induced myoglobinuria, macroglossia and dilated cardiomyopathy. 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 brain, skeletal muscle and testes, and related mouse phenotypes are behavior/neurological and homeostasis/metabolism.

Disease Ontology:11 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:51 MDGDC5 is an autosomal recessive muscular dystrophy characterized by variable age at onset, normal cognition, and no... (607155) more...

UniProtKB/Swiss-Prot:69 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 all 27)
idRelated DiseaseScoreTop Affiliating Genes
1muscular dystrophy, limb-girdle, type 2a10.8
2muscular dystrophy-dystroglycanopathy , type c, 110.8
3muscular dystrophy10.7
4limb-girdle muscular dystrophy10.7
5juvenile primary osteoporosis10.3CAPN3, FKRP
6cataract10.3CAPN3, DYSF
7dystrophinopathies10.2CAPN3, DYSF
8myositis10.2
9colon cancer, advanced somatic10.0FKRP, POMGNT2
10myopathy9.9
11thrombocytopenia, x-linked9.9DYSF, FKRP, LAMA2
12ullrich congenital muscular dystrophy 19.9CAPN3, LAMA2
13muscular dystrophy-dystroglycanopathy , type b, 49.9LAMA2, POMGNT2
14rippling muscle disease9.9DYSF, TTN
15miyoshi muscular dystrophy 19.9CAPN3, CHKB, DYSF
16medial medullary syndrome9.8FKRP, POMGNT2
17bethlem myopathy 19.8CAPN3, DYSF
18nonsyndromic deafness9.7FKRP, LAMA2, POMGNT2
19longitudinal vaginal septum9.7TCAP, TTN
20emery-dreifuss muscular dystrophy9.6CAPN3, DYSF, TCAP, TRIM32
21cardiomyopathy, familial hypertrophic9.6TCAP, TTN
22classic variant of chromophobe renal cell carcinoma9.6CAPN3, DYSF, FKRP, LAMA2
23adult malignant hemangiopericytoma9.6CAPN3, DYSF, TTN
24immunodeficiency 34, mycobacteriosis, x-linked9.3CHKB, LAMA2, TTN
25ectodermal dysplasia9.3LAMA2, TCAP, TTN
26muscular dystrophy, congenital9.3CHKB, FKRP, LAMA2, POMGNT2
27median arcuate ligament syndrome8.9CAPN3, 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 for Muscular Dystrophy-Dystroglycanopathy , Type C, 5

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Symptoms by clinical synopsis from OMIM:

607155

Clinical features from OMIM:

607155

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

 63 (show all 25)
id Description HPO Frequency HPO Source Accession
1 exercise-induced myoglobinuria63 25% HP:0008305
2 macroglossia63 HP:0000158
3 dilated cardiomyopathy63 HP:0001644
4 achilles tendon contracture63 HP:0001771
5 restrictive deficit on pulmonary function testing63 HP:0002111
6 difficulty walking63 HP:0002355
7 frequent falls63 HP:0002359
8 waddling gait63 HP:0002515
9 scoliosis63 HP:0002650
10 kyphosis63 HP:0002808
11 nocturnal hypoventilation63 HP:0002877
12 vertebral fusion63 HP:0002948
13 elevated serum creatine phosphokinase63 HP:0003236
14 hyperlordosis63 HP:0003307
15 myalgia63 HP:0003326
16 muscle cramps63 HP:0003394
17 shoulder girdle muscle weakness63 HP:0003547
18 difficulty climbing stairs63 HP:0003551
19 proximal muscle weakness63 HP:0003701
20 thigh hypertrophy63 HP:0003733
21 congenital muscular dystrophy63 HP:0003741
22 pelvic girdle muscle weakness63 HP:0003749
23 left ventricular failure63 HP:0005162
24 calf muscle hypertrophy63 HP:0008981
25 toe walking63 HP:0040083

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


muscle cramp, myalgia, waddling gait

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):

(show all 12)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Lisinoprilapproved, investigationalPhase 2, Phase 311883915-83-75362119
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 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
2Protective AgentsPhase 2, Phase 37190
3Trace ElementsPhase 2, Phase 35802
4UbiquinonePhase 2, Phase 3139
5VitaminsPhase 2, Phase 35095
6
protease inhibitorsPhase 2, Phase 35320
Synonyms:
 
protease inhibitors
7MicronutrientsPhase 2, Phase 35802
8Angiotensin-Converting Enzyme InhibitorsPhase 2, Phase 3711
9HIV Protease InhibitorsPhase 2, Phase 35319
10Antihypertensive AgentsPhase 2, Phase 34095
11
Coenzyme Q10experimental, NutraceuticalPhase 2, Phase 3114303-98-05281915
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 Q-10
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
12Tin FluoridesPhase 1, Phase 2246

Interventional clinical trials:

idNameStatusNCT IDPhase
1Clinical Trial of Coenzyme Q10 and Lisinopril in Muscular DystrophiesEnrolling by invitationNCT01126697Phase 2, Phase 3
2A Trial of PF-06252616 in Ambulatory Participants With LGMD2IRecruitingNCT02841267Phase 1, Phase 2
3Muscle MRI in Becker Muscular Dystrophy and in Limb-girdle Muscular Dystrophy Type 2ICompletedNCT02165358
4Evaluation of Limb-Girdle Muscular DystrophyCompletedNCT00893334
5Congenital Muscle Disease Study of Patient and Family Reported Medical InformationRecruitingNCT01403402

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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-Dystroglycanopathy, Type C526
2 Limb-Girdle Muscular Dystrophy Type 2i24 FKRP

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

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

35
Brain, Skeletal muscle, Testes

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:

40
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053867.9CHKB, DYSF, FKRP, LAMA2, TCAP, TRIM32
2MP:00053766.8CAPN3, CHKB, DYSF, FKRP, LAMA2, POMGNT2
3MP:00053696.7CAPN3, 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:

69 (show all 18)
id Symbol AA change Variation ID SNP ID
1FKRPp.Arg143SerVAR_018282rs148206382
2FKRPp.Leu276IleVAR_018285rs28937900
3FKRPp.Arg312CysVAR_018287
4FKRPp.Pro316ArgVAR_018289rs752582904
5FKRPp.Arg339LeuVAR_018291
6FKRPp.Arg54TrpVAR_019272rs28937905
7FKRPp.Tyr307AsnVAR_022850rs104894692
8FKRPp.Pro316SerVAR_022851
9FKRPp.Asp360AsnVAR_022853
10FKRPp.Pro462SerVAR_022856rs768606230
11FKRPp.Val79MetVAR_065055rs104894683
12FKRPp.Arg134TrpVAR_065056rs104894690
13FKRPp.Val160PheVAR_065057
14FKRPp.Tyr182CysVAR_065058rs543163491
15FKRPp.Thr293IleVAR_065059
16FKRPp.Val300AlaVAR_065060rs104894691
17FKRPp.Val300MetVAR_065061rs563033008
18FKRPp.Pro358LeuVAR_065062rs143031195

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

5 (show all 20)
id Gene Variation Type Significance SNP ID Assembly Location
1FKRPNM_024301.4(FKRP): c.1A> G (p.Met1Val)SNVPathogenicrs587777223GRCh38Chr 19, 46755451: 46755451
2FKRPNM_024301.4(FKRP): c.947C> G (p.Pro316Arg)SNVLikely pathogenicrs752582904GRCh37Chr 19, 47259654: 47259654
3FKRPNM_024301.4(FKRP): c.826C> A (p.Leu276Ile)SNV, Phase unknownPathogenicrs28937900GRCh37Chr 19, 47259533: 47259533
4FKRPNM_024301.4(FKRP): c.545A> G (p.Tyr182Cys)SNVPathogenicrs543163491GRCh37Chr 19, 47259252: 47259252
5FKRPNM_024301.4(FKRP): c.313C> T (p.Gln105Ter)SNVPathogenicrs761821795GRCh37Chr 19, 47259020: 47259020
6FKRPNM_024301.4(FKRP): c.1269_1270insT (p.Asn424Terfs)insertionPathogenicrs772950604GRCh37Chr 19, 47259976: 47259977
7FKRPNM_024301.4(FKRP): c.1267delC (p.Arg423Alafs)deletionPathogenicrs886044083GRCh37Chr 19, 47259974: 47259974
8FKRPNM_024301.4(FKRP): c.1141delG (p.Ala381Glnfs)deletionPathogenicrs886044134GRCh37Chr 19, 47259848: 47259848
9FKRPNM_024301.4(FKRP): c.970G> T (p.Glu324Ter)SNVPathogenicrs886044183GRCh37Chr 19, 47259677: 47259677
10FKRPNM_024301.4(FKRP): c.738_749delCCCGCTGGCCAC (p.Pro247_Thr250del)deletionLikely pathogenicrs886044496GRCh37Chr 19, 47259445: 47259456
11FKRPNM_024301.4(FKRP): c.387_390dupACCT (p.Asp131Thrfs)duplicationPathogenicrs587777823GRCh38Chr 19, 46755837: 46755840
12FKRPNM_024301.4(FKRP): c.1486T> A (p.Ter496Arg)SNVPathogenicrs104894682GRCh37Chr 19, 47260193: 47260193
13FKRPNM_024301.4(FKRP): c.1364C> A (p.Ala455Asp)SNVPathogenicrs28937903GRCh37Chr 19, 47260071: 47260071
14FKRPNM_024301.4(FKRP): c.160C> T (p.Arg54Trp)SNVPathogenicrs28937905GRCh37Chr 19, 47258867: 47258867
15FKRPNM_024301.4(FKRP): c.764G> A (p.Trp255Ter)SNVPathogenicrs104894689GRCh37Chr 19, 47259471: 47259471
16FKRPNM_024301.4(FKRP): c.400C> T (p.Arg134Trp)SNVPathogenicrs104894690GRCh37Chr 19, 47259107: 47259107
17FKRPNM_024301.4(FKRP): c.899T> C (p.Val300Ala)SNVPathogenicrs104894691GRCh37Chr 19, 47259606: 47259606
18FKRPNM_024301.4(FKRP): c.919T> A (p.Tyr307Asn)SNVPathogenicrs104894692GRCh37Chr 19, 47259626: 47259626
19FKRPNM_024301.4(FKRP): c.1387A> G (p.Asn463Asp)SNVPathogenicrs121908110GRCh37Chr 19, 47260094: 47260094
20FKRPNM_024301.4(FKRP): c.941C> T (p.Thr314Met)SNVPathogenicrs398124395GRCh37Chr 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 pathwaysScoreTop Affiliating Genes
19.2TCAP, 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:003031510.0CAPN3, DYSF
2I bandGO:00316749.4TCAP, TTN
3sarcolemmaGO:00423839.2DYSF, FKRP, LAMA2
4Z discGO:00300188.8CAPN3, TCAP, TTN

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

(show all 16)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of proteolysisGO:004586210.0CAPN3, TRIM32
2muscle cell cellular homeostasisGO:00467169.8CAPN3, TRIM32
3skeletal muscle thin filament assemblyGO:00302409.7TCAP, TTN
4skeletal muscle myosin thick filament assemblyGO:00302419.7TCAP, TTN
5sarcomerogenesisGO:00487699.7TCAP, TTN
6cardiac muscle tissue morphogenesisGO:00550089.7TCAP, TTN
7cardiac myofibril assemblyGO:00550039.5TCAP, TTN
8cardiac muscle hypertrophyGO:00033009.5TCAP, TTN
9detection of muscle stretchGO:00359959.5TCAP, TTN
10response to calcium ionGO:00515929.5CAPN3, TTN
11cardiac muscle fiber developmentGO:00487399.5TCAP, TTN
12regulation of catalytic activityGO:00507909.2CAPN3, TTN
13protein O-linked mannosylationGO:00352699.2FKRP, POMGNT2
14muscle filament slidingGO:00300499.2TCAP, TTN
15sarcomere organizationGO:00452149.2CAPN3, TCAP, TTN
16cardiac muscle contractionGO:00600489.1TCAP, TTN

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

idNameGO IDScoreTop Affiliating Genes
1titin bindingGO:00314329.8CAPN3, 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
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet