MCID: LMB036
MIFTS: 19

Limb-Girdle Muscular Dystrophy Type 2i malady

Genetic diseases, Muscle diseases, Rare diseases, Neuronal diseases categories

Summaries for Limb-Girdle Muscular Dystrophy Type 2i

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MalaCards based summary: Limb-Girdle Muscular Dystrophy Type 2i is related to limb-girdle muscular dystrophy and muscular dystrophy. An important gene associated with Limb-Girdle Muscular Dystrophy Type 2i is FKRP (fukutin related protein). Affiliated tissues include skeletal muscle.

Aliases & Classifications for Limb-Girdle Muscular Dystrophy Type 2i

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Limb-Girdle Muscular Dystrophy Type 2i, Aliases & Descriptions:

Name: Limb-Girdle Muscular Dystrophy Type 2i 31 21


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Muscle diseases, Neuronal diseases


Related Diseases for Limb-Girdle Muscular Dystrophy Type 2i

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Symptoms for Limb-Girdle Muscular Dystrophy Type 2i

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Drugs & Therapeutics for Limb-Girdle Muscular Dystrophy Type 2i

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Drug clinical trials:

Search ClinicalTrials for Limb-Girdle Muscular Dystrophy Type 2i

Search NIH Clinical Center for Limb-Girdle Muscular Dystrophy Type 2i

Genetic Tests for Limb-Girdle Muscular Dystrophy Type 2i

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Genetic tests related to Limb-Girdle Muscular Dystrophy Type 2i:

id Genetic test Affiliating Genes
1 Limb-Girdle Muscular Dystrophy Type 2i21

Anatomical Context for Limb-Girdle Muscular Dystrophy Type 2i

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MalaCards organs/tissues related to Limb-Girdle Muscular Dystrophy Type 2i:

32
Skeletal muscle

Animal Models for Limb-Girdle Muscular Dystrophy Type 2i or affiliated genes

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Publications for Limb-Girdle Muscular Dystrophy Type 2i

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Articles related to Limb-Girdle Muscular Dystrophy Type 2i:

(show all 12)
idTitleAuthorsYear
1
Protein turnover and cellular stress in mildly and severely affected muscles from patients with limb girdle muscular dystrophy type 2I. (23840556)
2013
2
Limb-girdle muscular dystrophy type 2I is not rare in Taiwan. (23800702)
2013
3
Inflammatory Changes in Limb Girdle Muscular Dystrophy Type 2I. (24257234)
2013
4
Level of muscle regeneration in limb-girdle muscular dystrophy type 2I relates to genotype and clinical severity. (21970816)
2011
5
Cardiac pathology exceeds skeletal muscle pathology in two cases of limb-girdle muscular dystrophy type 2I. (19705481)
2009
6
Clinical and mutational spectrum of limb-girdle muscular dystrophy type 2I in 11 French patients. (19917824)
2009
7
High prevalence and phenotype-genotype correlations of limb girdle muscular dystrophy type 2I in Denmark. (16634037)
2006
8
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)
2006
9
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)
2005
10
Clinical and molecular characterization of patients with limb-girdle muscular dystrophy type 2I. (16344347)
2005
11
The clinical spectrum of limb-girdle muscular dystrophies type 2I in cases of a mutation in the "fukutin-related- protein"-gene]. (15221067)
2004
12
The phenotype of limb-girdle muscular dystrophy type 2I. (12707425)
2003

Variations for Limb-Girdle Muscular Dystrophy Type 2i

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Expression for genes affiliated with Limb-Girdle Muscular Dystrophy Type 2i

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Sources:
2BioGPS, 16Gene Expression Omnibus DataSets, 31LifeMap Discovery®
See all sources
LifeMap Discovery
Genes differentially expressed in tissues of Limb-Girdle Muscular Dystrophy Type 2i patients vs. healthy controls: 31 (show all 146)
id Gene Description Tissue Up/Dn Fold Change (log2) P value
1LYZlysozymeSkeletal Muscle+2.450.000
2MYH3myosin, heavy chain 3, skeletal muscle, embryonicSkeletal Muscle+2.250.000
3S100A4S100 calcium binding protein A4Skeletal Muscle+2.170.000
4HLA-DPB1major histocompatibility complex, class II, DP beta 1Skeletal Muscle+2.070.000
5CD44CD44 molecule (Indian blood group)Skeletal Muscle+1.990.000
6FOSFBJ murine osteosarcoma viral oncogene homologSkeletal Muscle+1.970.000
7COL1A1collagen, type I, alpha 1Skeletal Muscle+1.910.000
8HLA-DRAmajor histocompatibility complex, class II, DR alphaSkeletal Muscle+1.870.000
9HLA-DPA1major histocompatibility complex, class II, DP alpha 1Skeletal Muscle+1.850.000
10PPP1R3Aprotein phosphatase 1, regulatory subunit 3ASkeletal Muscle-1.810.000
11ACTC1actin, alpha, cardiac muscle 1Skeletal Muscle+1.780.000
12HLA-DRB1major histocompatibility complex, class II, DR beta 1Skeletal Muscle+1.770.000
13COL3A1collagen, type III, alpha 1Skeletal Muscle+1.740.000
14CMYA5cardiomyopathy associated 5Skeletal Muscle-1.700.000
15COL1A2collagen, type I, alpha 2Skeletal Muscle+1.690.000
16TTNtitinSkeletal Muscle-1.640.000
17TIMP1TIMP metallopeptidase inhibitor 1Skeletal Muscle+1.630.000
18DCLK1doublecortin-like kinase 1Skeletal Muscle+1.630.000
19C1QCcomplement component 1, q subcomponent, C chainSkeletal Muscle+1.620.000
20C1Scomplement component 1, s subcomponentSkeletal Muscle+1.590.000
21PPIBpeptidylprolyl isomerase B (cyclophilin B)Skeletal Muscle+1.570.000
22S100A6S100 calcium binding protein A6Skeletal Muscle+1.550.000
23WISP2WNT1 inducible signaling pathway protein 2Skeletal Muscle+1.500.000
24CTGFconnective tissue growth factorSkeletal Muscle+1.500.000
25SAT1spermidine/spermine N1-acetyltransferase 1Skeletal Muscle+1.500.000
26C1QBcomplement component 1, q subcomponent, B chainSkeletal Muscle+1.490.000
27CD14CD14 moleculeSkeletal Muscle+1.490.000
28COL6A2collagen, type VI, alpha 2Skeletal Muscle+1.480.000
29ANXA1annexin A1Skeletal Muscle+1.470.000
30BTN3A2butyrophilin, subfamily 3, member A2Skeletal Muscle+1.470.000
31TYROBPTYRO protein tyrosine kinase binding proteinSkeletal Muscle+1.450.000
32C1QAcomplement component 1, q subcomponent, A chainSkeletal Muscle+1.420.000
33C3complement component 3Skeletal Muscle+1.410.000
34TUBA1Atubulin, alpha 1aSkeletal Muscle+1.390.000
35DPTdermatopontinSkeletal Muscle+1.390.000
36MYL5myosin, light chain 5, regulatorySkeletal Muscle+1.390.000
37S100A11S100 calcium binding protein A11Skeletal Muscle+1.390.000
38RARRES3retinoic acid receptor responder (tazarotene induced) 3Skeletal Muscle+1.380.000
39PRUNE2prune homolog 2 (Drosophila)Skeletal Muscle+1.360.000
40CD163CD163 moleculeSkeletal Muscle+1.350.000
41PLTPphospholipid transfer proteinSkeletal Muscle+1.350.000
42S100A10S100 calcium binding protein A10Skeletal Muscle+1.350.000
43THBS4thrombospondin 4Skeletal Muscle+1.340.000
44EMP3epithelial membrane protein 3Skeletal Muscle+1.340.000
45ANXA2annexin A2Skeletal Muscle+1.330.000
46MAP4microtubule-associated protein 4Skeletal Muscle-1.330.000
47HLA-DQB1major histocompatibility complex, class II, DQ beta 1Skeletal Muscle+1.320.000
48SNX7sorting nexin 7Skeletal Muscle+1.320.000
49ZYG11Bzyg-11 family member B, cell cycle regulatorSkeletal Muscle-1.310.000
50TUBB6tubulin, beta 6 class VSkeletal Muscle+1.300.000
51CD74CD74 molecule, major histocompatibility complex, class II invariant chainSkeletal Muscle+1.290.000
52HLA-DMAmajor histocompatibility complex, class II, DM alphaSkeletal Muscle+1.290.000
53HLA-Emajor histocompatibility complex, class I, ESkeletal Muscle+1.290.000
54EFEMP1EGF containing fibulin-like extracellular matrix protein 1Skeletal Muscle+1.290.000
55SSPNsarcospanSkeletal Muscle-1.290.000
56KCTD12potassium channel tetramerization domain containing 12Skeletal Muscle+1.270.000
57MGPmatrix Gla proteinSkeletal Muscle+1.270.000
58NESnestinSkeletal Muscle+1.270.000
59C1Rcomplement component 1, r subcomponentSkeletal Muscle+1.260.000
60PSMB8proteasome (prosome, macropain) subunit, beta type, 8Skeletal Muscle+1.250.000
61USO1USO1 vesicle transport factorSkeletal Muscle-1.250.000
62CCDC80coiled-coil domain containing 80Skeletal Muscle+1.250.000
63MLECmalectinSkeletal Muscle-1.250.000
64TMSB10thymosin beta 10Skeletal Muscle+1.250.000
65ZFP36L2ZFP36 ring finger protein-like 2Skeletal Muscle+1.230.000
66MRC1mannose receptor, C type 1Skeletal Muscle+1.230.000
67NRAPnebulin-related anchoring proteinSkeletal Muscle-1.230.000
68LGALS3BPlectin, galactoside-binding, soluble, 3 binding proteinSkeletal Muscle+1.220.000
69ABI3BPABI family, member 3 (NESH) binding proteinSkeletal Muscle+1.220.000
70NNMTnicotinamide N-methyltransferaseSkeletal Muscle+1.220.000
71GBP2guanylate binding protein 2, interferon-inducibleSkeletal Muscle+1.200.000
72MYOFmyoferlinSkeletal Muscle+1.200.000
73F13A1coagulation factor XIII, A1 polypeptideSkeletal Muscle+1.190.000
74ABLIM1actin binding LIM protein 1Skeletal Muscle+1.190.000
75GPSM2G-protein signaling modulator 2Skeletal Muscle+1.190.000
76CLIC4chloride intracellular channel 4Skeletal Muscle+1.190.000
77LUMlumicanSkeletal Muscle+1.190.000
78CILPcartilage intermediate layer protein, nucleotide pyrophosphohydrolaseSkeletal Muscle+1.180.000
79IGFBP5insulin-like growth factor binding protein 5Skeletal Muscle-1.180.000
80HLA-Fmajor histocompatibility complex, class I, FSkeletal Muscle+1.180.000
81RNASE1ribonuclease, RNase A family, 1 (pancreatic)Skeletal Muscle+1.180.000
82SONSON DNA binding proteinSkeletal Muscle-1.180.000
83COL6A3collagen, type VI, alpha 3Skeletal Muscle+1.170.000
84KLHL24kelch-like family member 24Skeletal Muscle-1.170.000
85GPNMBglycoprotein (transmembrane) nmbSkeletal Muscle+1.160.000
86SH3BGRL3SH3 domain binding glutamate-rich protein like 3Skeletal Muscle+1.160.000
87DUSP1dual specificity phosphatase 1Skeletal Muscle+1.160.000
88MXRA5matrix-remodelling associated 5Skeletal Muscle+1.160.000
89VCANversicanSkeletal Muscle+1.160.000
90LAPTM5lysosomal protein transmembrane 5Skeletal Muscle+1.150.000
91NXPE3neurexophilin and PC-esterase domain family, member 3Skeletal Muscle-1.150.000
92ADIPOQadiponectin, C1Q and collagen domain containingSkeletal Muscle+1.140.000
93GPAMglycerol-3-phosphate acyltransferase, mitochondrialSkeletal Muscle-1.140.000
94GBP1guanylate binding protein 1, interferon-inducibleSkeletal Muscle+1.130.000
95CFHcomplement factor HSkeletal Muscle+1.130.000
96MYH8myosin, heavy chain 8, skeletal muscle, perinatalSkeletal Muscle+1.130.000
97SH3BGRLSH3 domain binding glutamate-rich protein likeSkeletal Muscle+1.120.000
98STAT1signal transducer and activator of transcription 1, 91kDaSkeletal Muscle+1.120.000
99CSF1Rcolony stimulating factor 1 receptorSkeletal Muscle+1.110.000
100EMP1epithelial membrane protein 1Skeletal Muscle+1.110.000
101MLLT11myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 11Skeletal Muscle+1.110.000
102ARHGAP36Rho GTPase activating protein 36Skeletal Muscle+1.100.000
103BTG1B-cell translocation gene 1, anti-proliferativeSkeletal Muscle+1.100.000
104VIMvimentinSkeletal Muscle+1.100.000
105MYBPHmyosin binding protein HSkeletal Muscle+1.090.000
106LPIN1lipin 1Skeletal Muscle-1.090.000
107TGFBItransforming growth factor, beta-induced, 68kDaSkeletal Muscle+1.080.000
108SMG8SMG8 nonsense mediated mRNA decay factorSkeletal Muscle+1.070.000
109FSTL1follistatin-like 1Skeletal Muscle+1.070.000
110RGS2regulator of G-protein signaling 2, 24kDaSkeletal Muscle+1.070.000
111CHRNA1cholinergic receptor, nicotinic, alpha 1 (muscle)Skeletal Muscle+1.070.000
112TAGLNtransgelinSkeletal Muscle+1.070.000
113IFI16interferon, gamma-inducible protein 16Skeletal Muscle+1.070.000
114MLF1myeloid leukemia factor 1Skeletal Muscle-1.060.000
115PTGDSprostaglandin D2 synthase 21kDa (brain)Skeletal Muscle+1.060.000
116ADIRFadipogenesis regulatory factorSkeletal Muscle+1.060.000
117DPYSL2dihydropyrimidinase-like 2Skeletal Muscle+1.050.000
118COG5component of oligomeric golgi complex 5Skeletal Muscle-1.050.000
119COTL1coactosin-like F-actin binding protein 1Skeletal Muscle+1.050.000
120HIPK3homeodomain interacting protein kinase 3Skeletal Muscle-1.050.000
121PDP1pyruvate dehyrogenase phosphatase catalytic subunit 1Skeletal Muscle-1.050.000
122DCNdecorinSkeletal Muscle+1.040.000
123MFAP5microfibrillar associated protein 5Skeletal Muscle+1.040.000
124RBM3RNA binding motif (RNP1, RRM) protein 3Skeletal Muscle+1.040.000
125TIMP3TIMP metallopeptidase inhibitor 3Skeletal Muscle+1.040.000
126ARPC1Bactin related protein 2/3 complex, subunit 1B, 41kDaSkeletal Muscle+1.040.000
127ANKRD2ankyrin repeat domain 2 (stretch responsive muscle)Skeletal Muscle+1.030.000
128YWHABtyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, betaSkeletal Muscle-1.030.000
129LGMNlegumainSkeletal Muscle+1.030.000
130CYR61cysteine-rich, angiogenic inducer, 61Skeletal Muscle+1.030.000
131RPL3ribosomal protein L3Skeletal Muscle+1.030.000
132FBN1fibrillin 1Skeletal Muscle+1.030.000
133IFI27interferon, alpha-inducible protein 27Skeletal Muscle+1.030.000
134CD9CD9 moleculeSkeletal Muscle+1.030.000
135MTUS1microtubule associated tumor suppressor 1Skeletal Muscle-1.020.000
136PPP1R12Bprotein phosphatase 1, regulatory subunit 12BSkeletal Muscle-1.020.000
137ICMTisoprenylcysteine carboxyl methyltransferaseSkeletal Muscle+1.010.000
138AQP4aquaporin 4Skeletal Muscle-1.010.000
139MYADMmyeloid-associated differentiation markerSkeletal Muscle+1.010.000
140SPARCsecreted protein, acidic, cysteine-rich (osteonectin)Skeletal Muscle+1.010.000
141SERPING1serpin peptidase inhibitor, clade G (C1 inhibitor), member 1Skeletal Muscle+1.010.000
142DAB2Dab, mitogen-responsive phosphoprotein, homolog 2 (Drosophila)Skeletal Muscle+1.010.000
143ANGPTL2angiopoietin-like 2Skeletal Muscle+1.010.000
144SRGNserglycinSkeletal Muscle+1.010.000
145FN1fibronectin 1Skeletal Muscle+1.000.000
146CDC42SE1CDC42 small effector 1Skeletal Muscle+1.000.000

Expression patterns in normal tissues for genes affiliated with Limb-Girdle Muscular Dystrophy Type 2i

Search GEO for disease gene expression data for Limb-Girdle Muscular Dystrophy Type 2i.

Pathways for genes affiliated with Limb-Girdle Muscular Dystrophy Type 2i

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Compounds for genes affiliated with Limb-Girdle Muscular Dystrophy Type 2i

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GO Terms for genes affiliated with Limb-Girdle Muscular Dystrophy Type 2i

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Products for genes affiliated with Limb-Girdle Muscular Dystrophy Type 2i

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  • Antibodies
  • Proteins
  • Lysates
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  • Proteins
  • Kits and Assays

Sources for Limb-Girdle Muscular Dystrophy Type 2i

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
29IUPHAR
30KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet