MCID: MSC036
MIFTS: 28

Muscular Dystrophy-Dystroglycanopathy , Type C, 5 malady

Genetic diseases (common), Muscle diseases, Neuronal diseases, Mental diseases categories

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

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

Name: Muscular Dystrophy-Dystroglycanopathy , Type C, 5 45 10
 
Limb-Girdle Muscular Dystrophy Type 2i 30 20


Classifications:



External Ids:

OMIM45 607155

Summaries for Muscular Dystrophy-Dystroglycanopathy , Type C, 5

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OMIM:45 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 limb-girdle muscular dystrophy type 2i, is related to limb-girdle muscular dystrophy and 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). Affiliated tissues include brain and skin.

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, 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:

idRelated DiseaseScoreTop Affiliating Genes
1limb-girdle muscular dystrophy11.0
2muscular dystrophy11.0
3autosomal recessive limb-girdle muscular dystrophy type 2i10.7
4myositis10.5

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 26)
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

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

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Drug clinical trials:

Search ClinicalTrials for Muscular Dystrophy-Dystroglycanopathy , Type C, 5

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 2i20

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

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

31
Brain, Skin

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

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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:

62 (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:

6
id Gene Variation Type Significance SNP ID Assembly Location
1FKRPNM_024301.4(FKRP): c.826C> A (p.Leu276Ile)single nucleotide variantPathogenicrs28937900GRCh37Chr 19, 47259533: 47259533
2FKRPFKRP, 4-BP INS, NT390insertionPathogenic
3FKRPNM_024301.4(FKRP): c.1486T> A (p.Ter496Arg)single nucleotide variantPathogenicrs104894682GRCh37Chr 19, 47260193: 47260193
4FKRPNM_024301.4(FKRP): c.160C> T (p.Arg54Trp)single nucleotide variantPathogenicrs28937905GRCh37Chr 19, 47258867: 47258867
5FKRPNM_024301.4(FKRP): c.235G> A (p.Val79Met)single nucleotide variantPathogenicrs104894683GRCh37Chr 19, 47258942: 47258942
6FKRPNM_024301.4(FKRP): c.764G> A (p.Trp255Ter)single nucleotide variantPathogenicrs104894689GRCh37Chr 19, 47259471: 47259471
7FKRPNM_024301.4(FKRP): c.400C> T (p.Arg134Trp)single nucleotide variantPathogenicrs104894690GRCh37Chr 19, 47259107: 47259107
8FKRPNM_024301.4(FKRP): c.899T> C (p.Val300Ala)single nucleotide variantPathogenicrs104894691GRCh37Chr 19, 47259606: 47259606
9FKRPNM_024301.4(FKRP): c.919T> A (p.Tyr307Asn)single nucleotide variantPathogenicrs104894692GRCh37Chr 19, 47259626: 47259626

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

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LifeMap Discovery
Genes differentially expressed in tissues of Muscular Dystrophy-Dystroglycanopathy , Type C, 5 patients vs. healthy controls: 30 (show all 46)
id Gene Description Tissue Up/Dn Fold Change (log2) P value
1DDX3YDEAD (Asp-Glu-Ala-Asp) box helicase 3, Y-linkedAmnion-8.640.000
2RPS4Y1ribosomal protein S4, Y-linked 1Amnion-7.410.000
3EIF1AYeukaryotic translation initiation factor 1A, Y-linkedAmnion-7.250.000
4THBS1thrombospondin 1Amnion-4.680.000
5SLC1A6solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6Amnion-4.170.010
6OVOL1ovo-like zinc finger 1Amnion-4.150.000
7NRTNneurturinAmnion-4.130.016
8KRT24keratin 24Amnion-4.120.000
9TXLNG2Ptaxilin gamma 2, pseudogeneAmnion-3.960.003
10NKX2-3NK2 homeobox 3Amnion-3.920.000
11MXD1MAX dimerization protein 1Amnion-3.830.015
12AP1S3adaptor-related protein complex 1, sigma 3 subunitAmnion-3.780.000
13ETNPPLethanolamine-phosphate phospho-lyaseAmnion-3.730.005
14KANK4KN motif and ankyrin repeat domains 4Amnion-3.690.002
15KCNC2potassium voltage-gated channel, Shaw-related subfamily, member 2Amnion-3.670.031
16ZFYzinc finger protein, Y-linkedAmnion-3.670.005
17SLC7A2solute carrier family 7 (cationic amino acid transporter, y+ system), member 2Amnion-3.660.023
18MFAP5microfibrillar associated protein 5Amnion-3.610.004
19KCTD7potassium channel tetramerization domain containing 7Amnion-3.590.000
20MUC15mucin 15, cell surface associatedAmnion-3.530.043
21GPX8glutathione peroxidase 8 (putative)Amnion-3.470.003
22ARHGEF28Rho guanine nucleotide exchange factor (GEF) 28Amnion-3.400.000
23PDZRN3PDZ domain containing ring finger 3Amnion-3.400.026
24CAB39Lcalcium binding protein 39-likeAmnion-3.360.023
25MYSM1Myb-like, SWIRM and MPN domains 1Amnion-3.350.007
26EDN1endothelin 1Amnion-3.340.001
27KRT40keratin 40Amnion-3.330.001
28AOX1aldehyde oxidase 1Amnion-3.320.007
29KIAA1432KIAA1432Amnion-3.280.001
30SERPINB13serpin peptidase inhibitor, clade B (ovalbumin), member 13Amnion-3.270.001
31GJB6gap junction protein, beta 6, 30kDaAmnion-3.230.021
32CD99P1CD99 molecule pseudogene 1Amnion-3.220.001
33ZNF556zinc finger protein 556Amnion-3.220.024
34IGFBP3insulin-like growth factor binding protein 3Amnion-3.210.012
35KDM5Dlysine (K)-specific demethylase 5DAmnion-3.190.003
36ZNF555zinc finger protein 555Amnion-3.170.034
37RGS9BPregulator of G protein signaling 9 binding proteinAmnion-3.170.001
38ACTR3CARP3 actin-related protein 3 homolog C (yeast)Amnion-3.170.000
39EMX2empty spiracles homeobox 2Amnion-3.150.009
40GPR39G protein-coupled receptor 39Amnion-3.110.043
41SOS2son of sevenless homolog 2 (Drosophila)Amnion-3.110.003
42CLCA4chloride channel accessory 4Amnion-3.100.023
43SYNGR3synaptogyrin 3Amnion-3.090.028
44NCRNA00185non-protein coding RNA 185Amnion-3.060.007
45SGMS2sphingomyelin synthase 2Amnion-3.020.006
46KRTDAPkeratinocyte differentiation-associated proteinAmnion-3.010.039

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

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

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

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Sources for Muscular Dystrophy-Dystroglycanopathy , Type C, 5

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet