MDDGC5
MCID: MSC036
MIFTS: 55

Muscular Dystrophy-Dystroglycanopathy , Type C, 5 (MDDGC5) 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 52 48 12
Lgmd2i 11 48 24 54 70 50
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2i 11 48 54 13
Limb-Girdle Muscular Dystrophy Type 2i 35 48 24 70
Limb-Girdle Muscular Dystrophy Due to Fkrp Deficiency 11 48 54
Muscular Dystrophy-Dystroglycanopathy Limb-Girdle Frkp-Related 11 70
 
Muscular Dystrophy-Dystroglycanopathy Limb-Girdle C5 70 27
Mddgc5 11 70
Muscular Dystrophy-Dystroglycanopathy Type C 5 11
Muscular Dystrophy, Limb-Girdle, Type 2i 68
Muscular Dystrophy Limb-Girdle Type 2i 11
Lgmd 2i 24

Characteristics:

Orphanet epidemiological data:

54
lgmd2i:
Inheritance: Autosomal recessive; Age of onset: Adolescent,Adult,Childhood,Infancy

HPO:

64
muscular dystrophy-dystroglycanopathy , type c, 5:
Inheritance: autosomal recessive inheritance
Onset and clinical course: variable expressivity

Classifications:



External Ids:

OMIM52 607155
Disease Ontology11 DOID:0110299
ICD1030 G71.0
Orphanet54 ORPHA34515
ICD10 via Orphanet31 G71.0
MedGen37 C1846672
MeSH39 D049288

Summaries for Muscular Dystrophy-Dystroglycanopathy , Type C, 5

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NIH Rare Diseases:48 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 muscle cramp, muscle cramp and myalgia. An important gene associated with Muscular Dystrophy-Dystroglycanopathy , Type C, 5 is FKRP (Fukutin Related Protein), and among its related pathways are Mannose type O-glycan biosynthesis and 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:52 MDGDC5 is an autosomal recessive muscular dystrophy characterized by variable age at onset, normal cognition, and no... (607155) more...

UniProtKB/Swiss-Prot:70 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 48)
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
5sporadic hemiplegic migraine10.2CAPN3, FKRP
6myositis10.2
7rippling muscle disease10.2DYSF, FKRP
8cerebral hemorrhage10.1CAPN3, DYSF
9osteogenesis imperfecta with opalescent teeth, blue sclerae and wormian bones but without fractures10.1DYSF, FKRP
10deafness, autosomal recessive 18b10.1DYSF, FKRP
11pancreatic agenesis 110.1CAPN3, DYSF
12craniosynostosis with radiohumeral fusions and other skeletal and craniofacial anomalies10.1CAPN3, DYSF
13ehlers-danlos syndrome, kyphoscoliotic form10.1CAPN3, DYSF
14myopathy, spheroid body10.1CAPN3, FKRP, TRIM32
15asthma-related traits 610.1CAPN3, DYSF, FKRP
16autosomal recessive limb-girdle muscular dystrophy type 2x10.1CAPN3, DYSF, FKRP
17cone-rod dystrophy, prph2-related10.0FKRP, POMGNT2
18cardiomyopathy, dilated, 1aa, with or without lvnc10.0FKRP, LAMA2
19creatine phosphokinase, elevated serum10.0DYSF, TTN
20myopathy, early-onset, with fatal cardiomyopathy10.0CAPN3, FKRP, TTN
21myopathy9.9
22lyme disease9.9CAPN3, DYSF, TTN
23dermatofibrosarcoma protuberans9.9FKRP, LAMA2
24vulvar eccrine adenocarcinoma9.9CAPN3, DYSF, TTN
25thrombocytopenia, x-linked9.9DYSF, FKRP, LAMA2
26gabrg2-related generalized epilepsy with febrile seizures plus9.9FKRP, LAMA2, POMGNT2
27ullrich congenital muscular dystrophy 19.9CAPN3, DYSF, LAMA2
28glycogen storage disease 0, muscle9.8FKRP, LAMA2, POMGNT2
29myasthenia gravis, limb-girdle9.8FKRP, LAMA2, POMGNT2
30muscular dystrophy, limb-girdle, type 1b9.8FKRP, LAMA2, POMGNT2
31malignant hyperthermia susceptibility9.8CAPN3, DYSF, TCAP, TRIM32
32autosomal dominant nonsyndromic deafness9.8FKRP, LAMA2, POMGNT2
33cardiomyopathy, dilated, 1x9.8LAMA2, POMGNT2
34dystonia 279.8CAPN3, LAMA2
35muscular dystrophy, rigid spine, 19.8DYSF, LAMA2, TTN
36cerebral angioma9.7CAPN3, DYSF, FKRP, LAMA2
37neurodegeneration with brain iron accumulation 69.7CAPN3, DYSF, FKRP, TCAP, TRIM32
38autosomal recessive limb-girdle muscular dystrophy type 2w9.7CAPN3, DYSF, FKRP, TCAP, TRIM32
39cdkl5-related angelman-like syndrome9.6LAMA2, TCAP, TTN
40emery-dreifuss muscular dystrophy, dominant type9.6FKRP, LAMA2, TCAP, TTN
41congenital heart defects, multiple types, 39.5CAPN3, DYSF, FKRP, TCAP, TRIM32, TTN
42autosomal dominant limb-girdle muscular dystrophy type 1c9.5CAPN3, DYSF, FKRP, TCAP, TRIM32, TTN
43myopathy, distal, with anterior tibial onset9.5CAPN3, DYSF, FKRP, TCAP, TRIM32, TTN
44spinocerebellar ataxia 119.5CAPN3, DYSF, FKRP, TCAP, TRIM32, TTN
45hypereosinophilic syndrome, idiopathic, resistant to imatinib9.5CAPN3, DYSF, FKRP, TCAP, TRIM32, TTN
46autosomal recessive limb-girdle muscular dystrophy type 2h9.5CAPN3, DYSF, FKRP, TCAP, TRIM32, TTN
47central corneal ulcer9.4CAPN3, DYSF, FKRP, LAMA2, TCAP, TRIM32
48charcot-marie-tooth disease, type 2b28.9CAPN3, DYSF, FKRP, LAMA2, POMGNT2, TCAP

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

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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:

 64 (show all 25)
id Description HPO Frequency HPO Source Accession
1 macroglossia64 HP:0000158
2 dilated cardiomyopathy64 HP:0001644
3 achilles tendon contracture64 HP:0001771
4 restrictive deficit on pulmonary function testing64 HP:0002111
5 difficulty walking64 HP:0002355
6 frequent falls64 HP:0002359
7 waddling gait64 HP:0002515
8 scoliosis64 HP:0002650
9 kyphosis64 HP:0002808
10 nocturnal hypoventilation64 HP:0002877
11 vertebral fusion64 HP:0002948
12 elevated serum creatine phosphokinase64 HP:0003236
13 hyperlordosis64 HP:0003307
14 myalgia64 HP:0003326
15 muscle cramps64 HP:0003394
16 shoulder girdle muscle weakness64 HP:0003547
17 difficulty climbing stairs64 HP:0003551
18 proximal muscle weakness64 HP:0003701
19 thigh hypertrophy64 HP:0003733
20 congenital muscular dystrophy64 HP:0003741
21 pelvic girdle muscle weakness64 HP:0003749
22 left ventricular failure64 HP:0005162
23 exercise-induced myoglobinuria64 HP:0008305
24 calf muscle hypertrophy64 HP:0008981
25 toe walking64 HP:0040083

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 according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053868.1DYSF, FKRP, LAMA2, TCAP, TRIM32, TTN
2MP:00053767.1CAPN3, DYSF, FKRP, LAMA2, POMGNT2, TCAP
3MP:00053696.9CAPN3, DYSF, FKRP, LAMA2, TCAP, TRIM32

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 311783915-83-75362119
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 37443
3Trace ElementsPhase 2, Phase 36001
4UbiquinonePhase 2, Phase 3145
5VitaminsPhase 2, Phase 35282
6
protease inhibitorsPhase 2, Phase 35471
Synonyms:
 
protease inhibitors
7MicronutrientsPhase 2, Phase 36001
8Angiotensin-Converting Enzyme InhibitorsPhase 2, Phase 3724
9HIV Protease InhibitorsPhase 2, Phase 35470
10Antihypertensive AgentsPhase 2, Phase 34207
11
Coenzyme Q10experimental, NutraceuticalPhase 2, Phase 3121303-98-05281915
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 2264

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 C527
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:

36
Brain, Skeletal muscle, Testes

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:

70 (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 18)
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.826C> A (p.Leu276Ile)SNV, Phase unknownPathogenicrs28937900GRCh37Chr 19, 47259533: 47259533
3FKRPNM_ 024301.4(FKRP): c.545A> G (p.Tyr182Cys)SNVPathogenicrs543163491GRCh37Chr 19, 47259252: 47259252
4FKRPNM_ 024301.4(FKRP): c.313C> T (p.Gln105Ter)SNVPathogenicrs761821795GRCh37Chr 19, 47259020: 47259020
5FKRPNM_ 024301.4(FKRP): c.1269_ 1270insT (p.Asn424Terfs)insertionPathogenicrs772950604GRCh37Chr 19, 47259976: 47259977
6FKRPNM_ 024301.4(FKRP): c.1267delC (p.Arg423Alafs)deletionPathogenicrs886044083GRCh37Chr 19, 47259974: 47259974
7FKRPNM_ 024301.4(FKRP): c.1141delG (p.Ala381Glnfs)deletionPathogenicrs886044134GRCh37Chr 19, 47259848: 47259848
8FKRPNM_ 024301.4(FKRP): c.970G> T (p.Glu324Ter)SNVPathogenic/ Likely pathogenicrs886044183GRCh37Chr 19, 47259677: 47259677
9FKRPNM_ 024301.4(FKRP): c.738_ 749delCCCGCTGGCCAC (p.Pro247_ Thr250del)deletionLikely pathogenicrs886044496GRCh37Chr 19, 47259445: 47259456
10FKRPNM_ 024301.4(FKRP): c.387_ 390dupACCT (p.Asp131Thrfs)duplicationPathogenicrs587777823GRCh38Chr 19, 46755837: 46755840
11FKRPNM_ 024301.4(FKRP): c.1486T> A (p.Ter496Arg)SNVPathogenicrs104894682GRCh37Chr 19, 47260193: 47260193
12FKRPNM_ 024301.4(FKRP): c.1364C> A (p.Ala455Asp)SNVPathogenicrs28937903GRCh37Chr 19, 47260071: 47260071
13FKRPNM_ 024301.4(FKRP): c.160C> T (p.Arg54Trp)SNVPathogenicrs28937905GRCh37Chr 19, 47258867: 47258867
14FKRPNM_ 024301.4(FKRP): c.764G> A (p.Trp255Ter)SNVPathogenicrs104894689GRCh37Chr 19, 47259471: 47259471
15FKRPNM_ 024301.4(FKRP): c.400C> T (p.Arg134Trp)SNVPathogenicrs104894690GRCh37Chr 19, 47259107: 47259107
16FKRPNM_ 024301.4(FKRP): c.899T> C (p.Val300Ala)SNVPathogenicrs104894691GRCh37Chr 19, 47259606: 47259606
17FKRPNM_ 024301.4(FKRP): c.919T> A (p.Tyr307Asn)SNVPathogenicrs104894692GRCh37Chr 19, 47259626: 47259626
18FKRPNM_ 024301.4(FKRP): c.1387A> G (p.Asn463Asp)SNVPathogenicrs121908110GRCh37Chr 19, 47260094: 47260094

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
19.6FKRP, POMGNT2
29.3TCAP, 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:003031510.2CAPN3, DYSF
2I bandGO:00316749.9TCAP, TTN
3sarcolemmaGO:00423839.4DYSF, FKRP, LAMA2
4Z discGO:00300189.0CAPN3, TCAP, TTN

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

(show all 15)
idNameGO IDScoreTop Affiliating Genes
1muscle cell cellular homeostasisGO:004671610.3CAPN3, TRIM32
2positive regulation of proteolysisGO:004586210.2CAPN3, TRIM32
3protein O-linked mannosylationGO:003526910.1FKRP, POMGNT2
4cardiac muscle contractionGO:00600489.9TCAP, TTN
5response to calcium ionGO:00515929.9CAPN3, TTN
6cardiac muscle fiber developmentGO:00487399.9TCAP, TTN
7cardiac muscle hypertrophyGO:00033009.9TCAP, TTN
8cardiac muscle tissue morphogenesisGO:00550089.9TCAP, TTN
9cardiac myofibril assemblyGO:00550039.9TCAP, TTN
10detection of muscle stretchGO:00359959.9TCAP, TTN
11muscle filament slidingGO:00300499.9TCAP, TTN
12sarcomerogenesisGO:00487699.5TCAP, TTN
13skeletal muscle myosin thick filament assemblyGO:00302419.4TCAP, TTN
14skeletal muscle thin filament assemblyGO:00302409.3TCAP, TTN
15sarcomere organizationGO:00452149.2CAPN3, TCAP, TTN

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

idNameGO IDScoreTop Affiliating Genes
1protein self-associationGO:00436219.9TRIM32, TTN
2titin bindingGO:00314329.6CAPN3, TCAP
3structural constituent of muscleGO:00083079.3CAPN3, TCAP, TTN

Sources for Muscular Dystrophy-Dystroglycanopathy , Type C, 5

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet