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	limb-girdle muscular dystrophies

Disease ID	801
Disease	limb-girdle muscular dystrophies
Definition	A group of autosomal recessive and less frequently autosomal dominant muscular dystrophies affecting the muscles of the hips and shoulders.
Synonym	dystrophies girdle limb muscular leyden-mÃ¶bius muscular dystrophy limb girdle muscular dystrophies limb girdle muscular dystrophy limb-girdle muscular dystrophy limb-girdle muscular dystrophy (disorder) limb-girdle syndrome muscular dystrophies, limb girdle muscular dystrophies, limb-girdle muscular dystrophies, limb-girdle [disease/finding] muscular dystrophy limb-girdle muscular dystrophy, limb girdle muscular dystrophy, limb girdle type muscular dystrophy, limb-girdle myopathic limb-girdle syndrome
Orphanet	ORPHANET:263
DOID	DOID:11724
UMLS	C0686353
MeSH	D049288
SNOMED-CT	SNOMEDCT_US_2016_09_01:93153005
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:9) C0878544 \| cardiomyopathy \| 3 C0007193 \| dilated cardiomyopathy \| 1 C0338451 \| frontotemporal dementia \| 1 C0497327 \| dementia \| 1 C0017921 \| pompe disease \| 1 C0028754 \| obesity \| 1 C0085655 \| polymyositis \| 1 C0026846 \| muscle atrophy \| 1 C0024437 \| macular dystrophy \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:30) 56983 \| POGLUT1 \| UniProtKB-KW 5339 \| PLEC \| UniProtKB-KW 859 \| CAV3 \| CLINVAR;CTD_human;UniProtKB-KW;GHR 9499 \| MYOT \| UniProtKB-KW;GHR 55624 \| POMGNT1 \| UniProtKB-KW;GHR 55679 \| LIMS2 \| UniProtKB-KW 1674 \| DES \| UniProtKB-KW 79147 \| FKRP \| UniProtKB-KW;GHR 6444 \| SGCD \| UniProtKB-KW;GHR 6443 \| SGCB \| UniProtKB-KW;GHR 8557 \| TCAP \| UniProtKB-KW;GHR 29925 \| GMPPB \| UniProtKB-KW 825 \| CAPN3 \| UniProtKB-KW;GHR 8291 \| DYSF \| UniProtKB-KW;GHR 729920 \| ISPD \| UniProtKB-KW 203859 \| ANO5 \| UniProtKB-KW;GHR 6445 \| SGCG \| UniProtKB-KW;GHR 1605 \| DAG1 \| UniProtKB-KW 10049 \| DNAJB6 \| CTD_human;UniProtKB-KW 10585 \| POMT1 \| UniProtKB-KW;GHR 29954 \| POMT2 \| UniProtKB-KW;GHR 60684 \| TRAPPC11 \| UniProtKB-KW 23534 \| TNPO3 \| UniProtKB-KW 4000 \| LMNA \| CTD_human;UniProtKB-KW;GHR 7273 \| TTN \| UniProtKB-KW;GHR 22954 \| TRIM32 \| UniProtKB-KW;GHR 2218 \| FKTN \| UniProtKB-KW;GHR 6442 \| SGCA \| UniProtKB-KW;GHR 11149 \| BVES \| UniProtKB-KW 26092 \| TOR1AIP1 \| UniProtKB-KW
Inferring Gene	Entrez_id \| Symbol \| Resource(Total Genes:14) 2027 \| ENO3 \| CIPHER 2318 \| FLNC \| CIPHER 3895 \| KTN1 \| CIPHER 11155 \| LDB3 \| CIPHER 58529 \| MYOZ1 \| CIPHER 51778 \| MYOZ2 \| CIPHER 91977 \| MYOZ3 \| CIPHER 140825 \| NEURL2 \| CIPHER 137868 \| SGCZ \| CIPHER 81559 \| TRIM11 \| CIPHER 51127 \| TRIM17 \| CIPHER 4000 \| LMNA \| CTD_human 10049 \| DNAJB6 \| CTD_human 859 \| CAV3 \| CTD_human
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:110) 88 \| ACTN2 \| 1.386 \| DISEASES 146 \| ADRA1D \| 1.038 \| DISEASES 375790 \| AGRN \| 2.204 \| DISEASES 79026 \| AHNAK \| 3.698 \| DISEASES 27063 \| ANKRD1 \| 2.246 \| DISEASES 23245 \| ASTN2 \| 1.664 \| DISEASES 487 \| ATP2A1 \| 1.12 \| DISEASES 550 \| AUP1 \| 3.533 \| DISEASES 148789 \| B3GALNT2 \| 2.125 \| DISEASES 9531 \| BAG3 \| 1.433 \| DISEASES 801 \| CALM1 \| 1.033 \| DISEASES 11132 \| CAPN10 \| 2.176 \| DISEASES 825 \| CAPN3 \| 7.862 \| DISEASES 831 \| CAST \| 1.284 \| DISEASES 857 \| CAV1 \| 1.484 \| DISEASES 859 \| CAV3 \| 6.41 \| DISEASES 9635 \| CLCA2 \| 1.806 \| DISEASES 22802 \| CLCA4 \| 1.904 \| DISEASES 8418 \| CMAHP \| 2.047 \| DISEASES 202333 \| CMYA5 \| 1.984 \| DISEASES 1291 \| COL6A1 \| 3.51 \| DISEASES 1639 \| DCTN1 \| 1.915 \| DISEASES 1756 \| DMD \| 6.09 \| DISEASES 1760 \| DMPK \| 1.646 \| DISEASES 3301 \| DNAJA1 \| 1.006 \| DISEASES 1785 \| DNM2 \| 2.509 \| DISEASES 285489 \| DOK7 \| 1.819 \| DISEASES 22845 \| DOLK \| 1.667 \| DISEASES 1798 \| DPAGT1 \| 1.847 \| DISEASES 8818 \| DPM2 \| 1.935 \| DISEASES 54344 \| DPM3 \| 2.15 \| DISEASES 84062 \| DTNBP1 \| 1.399 \| DISEASES 8291 \| DYSF \| 7.773 \| DISEASES 161582 \| DYX1C1 \| 1.368 \| DISEASES 2010 \| EMD \| 4.536 \| DISEASES 51725 \| FBXO40 \| 2.603 \| DISEASES 654463 \| FER1L6 \| 3.029 \| DISEASES 2246 \| FGF1 \| 1.259 \| DISEASES 79147 \| FKRP \| 7.025 \| DISEASES 2318 \| FLNC \| 3.592 \| DISEASES 2595 \| GANC \| 1.541 \| DISEASES 10020 \| GNE \| 3.317 \| DISEASES 2882 \| GPX7 \| 1.418 \| DISEASES 392862 \| GRID2IP \| 2.236 \| DISEASES 3181 \| HNRNPA2B1 \| 1.403 \| DISEASES 24138 \| IFIT5 \| 1.807 \| DISEASES 9235 \| IL32 \| 1.125 \| DISEASES 9670 \| IPO13 \| 1.62 \| DISEASES 729920 \| ISPD \| 3.679 \| DISEASES 26548 \| ITGB1BP2 \| 2.952 \| DISEASES 80333 \| KCNIP4 \| 1.468 \| DISEASES 3768 \| KCNJ12 \| 1.494 \| DISEASES 3895 \| KTN1 \| 1.533 \| DISEASES 3908 \| LAMA2 \| 4.618 \| DISEASES 3920 \| LAMP2 \| 1.026 \| DISEASES 11155 \| LDB3 \| 4.126 \| DISEASES 55679 \| LIMS2 \| 3.081 \| DISEASES 4000 \| LMNA \| 5.233 \| DISEASES 84823 \| LMNB2 \| 1.306 \| DISEASES 9782 \| MATR3 \| 1.349 \| DISEASES 4205 \| MEF2A \| 1.194 \| DISEASES 4208 \| MEF2C \| 1.289 \| DISEASES 25834 \| MGAT4C \| 1.558 \| DISEASES 221938 \| MMD2 \| 2.188 \| DISEASES 4534 \| MTM1 \| 1.304 \| DISEASES 4625 \| MYH7 \| 1.127 \| DISEASES 4637 \| MYL6 \| 1.596 \| DISEASES 93649 \| MYOCD \| 1.541 \| DISEASES 26509 \| MYOF \| 4.989 \| DISEASES 127294 \| MYOM3 \| 3.218 \| DISEASES 58529 \| MYOZ1 \| 3.598 \| DISEASES 84665 \| MYPN \| 1.825 \| DISEASES 4712 \| NDUFB6 \| 2.082 \| DISEASES 4703 \| NEB \| 1.707 \| DISEASES 4842 \| NOS1 \| 1.135 \| DISEASES 84033 \| OBSCN \| 2.491 \| DISEASES 23363 \| OBSL1 \| 2.015 \| DISEASES 29780 \| PARVB \| 2.7 \| DISEASES 5081 \| PAX7 \| 2.18 \| DISEASES 5339 \| PLEC \| 2.554 \| DISEASES 55624 \| POMGNT1 \| 4.306 \| DISEASES 10585 \| POMT1 \| 5.072 \| DISEASES 5532 \| PPP3CB \| 1.511 \| DISEASES 284119 \| PTRF \| 1.799 \| DISEASES 6261 \| RYR1 \| 1.985 \| DISEASES 54549 \| SDK2 \| 2.738 \| DISEASES 6443 \| SGCB \| 4.995 \| DISEASES 6444 \| SGCD \| 6.511 \| DISEASES 8910 \| SGCE \| 3.617 \| DISEASES 137868 \| SGCZ \| 2.337 \| DISEASES 375484 \| SIMC1 \| 2.799 \| DISEASES 6547 \| SLC8A3 \| 1.389 \| DISEASES 23347 \| SMCHD1 \| 1.515 \| DISEASES 55234 \| SMU1 \| 2.092 \| DISEASES 84258 \| SYT3 \| 2.471 \| DISEASES 54843 \| SYTL2 \| 2.423 \| DISEASES 26092 \| TOR1AIP1 \| 2.158 \| DISEASES 60684 \| TRAPPC11 \| 3.86 \| DISEASES 22954 \| TRIM32 \| 5.553 \| DISEASES 84676 \| TRIM63 \| 1.45 \| DISEASES 131405 \| TRIM71 \| 1.96 \| DISEASES 7273 \| TTN \| 5.183 \| DISEASES 7278 \| TUBA3C \| 2.483 \| DISEASES 113457 \| TUBA3D \| 1.155 \| DISEASES 7322 \| UBE2D2 \| 1.24 \| DISEASES 7323 \| UBE2D3 \| 1.688 \| DISEASES 7402 \| UTRN \| 3.242 \| DISEASES 7415 \| VCP \| 2.493 \| DISEASES 8565 \| YARS \| 2.859 \| DISEASES 7753 \| ZNF202 \| 2.025 \| DISEASES
Locus	(Waiting for update.)

Disease ID	801
Disease	limb-girdle muscular dystrophies
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:14) HP:0001638 \| Cardiomyopathy \| 3 HP:0002015 \| Swallowing difficulty \| 1 HP:0030046 \| Hypoglycosylation of alpha-dystroglycan \| 1 HP:0002145 \| Frontotemporal dementia \| 1 HP:0100022 \| Movement disorder \| 1 HP:0001513 \| Obesity \| 1 HP:0100295 \| Muscle fibre atrophy \| 1 HP:0003202 \| Neurogenic muscle atrophy, especially in the lower limbs \| 1 HP:0012531 \| Pain \| 1 HP:0000726 \| Dementia \| 1 HP:0003326 \| Muscle pain \| 1 HP:0003560 \| Muscular dystrophy \| 1 HP:0007754 \| Macular dystrophy \| 1 HP:0001644 \| Congestive cardiomyopathy \| 1

Disease ID	801
Disease	limb-girdle muscular dystrophies
Manually Symptom	(Waiting for update.)
Text Mined Symptom	UMLS \| Name \| Sentences' Count(Total Symptoms:1) C0878544 \| cardiomyopathy \| 1

Manually Genotype(Total Text Mining Genotypes:0)
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Text Mining Genotype(Total Genotypes:0)
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All Snps(Total Genotypes:20)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs104894423	24534832	6445	SGCG	umls:C0686353	BeFree	We describe 2 siblings who are homozygous for the G787A mutation in the γ-sarcoglycan gene (SGCG), who presented with a severe childhood onset limb-girdle muscular dystrophy, and share a similar clinical phenotype and disease course consistent with LGMD 2C.	0.009248887	2014	SGCG	13	23324452	G	A
rs111033570	17994549	51750	RTEL1	umls:C0686353	BeFree	A homozygous mutation at the third NHL repeat (D487N) has been found in patients with limb girdle muscular dystrophy 2H (LGMD2H).	0.000271442	2008	TRIM32;ASTN2	9	116699201	G	A
rs116840776	NA	859	CAV3	umls:C0686353	CLINVAR	NA	0.251139048	NA	CAV3;SSUH2	3	8745627	C	G
rs116840778	12939441	859	CAV3	umls:C0686353	BeFree	Limb-girdle muscular dystrophy in a 71-year-old woman with an R27Q mutation in the CAV3 gene.	0.251139048	2003	CAV3;SSUH2	3	8733956	G	A,C
rs116840799	14672715	859	CAV3	umls:C0686353	BeFree	It was observed that the Thr63Ser mutation reduced the cell surface expression of caveolin-3, albeit the change was mild as compared with the LGMD mutations.	0.251139048	2004	CAV3;SSUH2	3	8745599	C	G
rs116840805	14645200	859	CAV3	umls:C0686353	BeFree	The current study characterized the biochemical and cardiac parameters of P104L mutant caveolin-3 transgenic mice, a model of an autosomal dominant limb-girdle muscular dystrophy (LGMD1C).	0.251139048	2004	CAV3;SSUH2	3	8745725	C	T
rs116840805	18509671	859	CAV3	umls:C0686353	BeFree	Here, we explored the functional consequences of a Cav-3 mutation (P104L) inducing the 1C type limb-girdle muscular dystrophy (LGMD 1C) in human on intracellular Ca(2+) regulation of adult skeletal muscle fibres.	0.251139048	2008	CAV3;SSUH2	3	8745725	C	T
rs116840805	22584670	859	CAV3	umls:C0686353	BeFree	Skeletal muscle expressing Pro104Leu mutant caveolin 3 (CAV3(P104L)) in mouse becomes atrophied and serves as a model of autosomal dominant limb-girdle muscular dystrophy 1C.	0.251139048	2012	CAV3;SSUH2	3	8745725	C	T
rs121908960	17287450	8291	DYSF	umls:C0686353	BeFree	His brother was diagnosed with limb girdle muscular dystrophy 2B with two mutations in the dysferlin gene (D625Y and E1734G).	0.023383727	2007	DYSF	2	71553131	G	A,T
rs121908961	17287450	8291	DYSF	umls:C0686353	BeFree	His brother was diagnosed with limb girdle muscular dystrophy 2B with two mutations in the dysferlin gene (D625Y and E1734G).	0.023383727	2007	DYSF	2	71667376	A	G
rs143570936	24565866	6442	SGCA	umls:C0686353	BeFree	Notably, we show that the pharmacological inhibition of HRD1 activity rescues the expression of V247-α-sarcoglycan both in a heterologous cell model and in myotubes derived from a LGMD-2D patient carrying the L31P/V247M mutations.	0.006795978	2015	SGCA	17	50169246	G	A
rs143570936	24565866	84447	SYVN1	umls:C0686353	BeFree	Notably, we show that the pharmacological inhibition of HRD1 activity rescues the expression of V247-α-sarcoglycan both in a heterologous cell model and in myotubes derived from a LGMD-2D patient carrying the L31P/V247M mutations.	0.000271442	2015	SGCA	17	50169246	G	A
rs199806879	15843148	825	CAPN3	umls:C0686353	BeFree	Limb girdle muscular dystrophy in a sibling pair with a homozygous Ser606Leu mutation in the alternatively spliced IS2 region of calpain 3.	0.035909779	2005	CAPN3	15	42408227	C	T
rs267607045	19259135	6444	SGCD	umls:C0686353	BeFree	We identified a novel missense mutation in exon 6 (p.A131P) of the delta-sarcoglycan gene, which in a homozygous state leads to the clinical picture of a limb girdle muscular dystrophy.	0.006524536	2009	SGCD	5	156594940	G	C
rs28937900	16786213	79147	FKRP	umls:C0686353	BeFree	The C826A mutation in the fukutin-related protein (FKRP) gene is typically associated with autosomal recessive limb-girdle muscular dystrophy 2I (LGMD2I) but oligosymptomatic phenotypes and patients with predominant cardiac involvement are also described.	0.029656685	2006	FKRP	19	46756276	C	A
rs387907046	22334415	10049	DNAJB6	umls:C0686353	BeFree	Linkage analysis excluded all variants except a Phe93Leu mutation in the G/F domain of the DNAJB6 gene, which resides within the LGMD locus at 7q36.	0.121900093	2012	DNAJB6;LOC105375608	7	157367414	T	C
rs58327533	20092787	4000	LMNA	umls:C0686353	BeFree	R25G mutation in exon 1 of LMNA gene is associated with dilated cardiomyopathy and limb-girdle muscular dystrophy 1B.	0.13387333	2009	LMNA	1	156114991	C	G,T
rs59914820	23746545	4000	LMNA	umls:C0686353	BeFree	Multisystem disorder and limb girdle muscular dystrophy caused by LMNA p.R28W mutation.	0.13387333	2013	LMNA	1	156115000	C	G,T
rs72546667	NA	859	CAV3	umls:C0686353	CLINVAR	NA	0.251139048	NA	CAV3;SSUH2	3	8745577	G	A
rs80338800	17702496	825	CAPN3	umls:C0686353	BeFree	The CAPN3 gene mutation c.550delA is rather frequently observed in German patients with LGMD2, but also occasionally in cases with isolated hyperCKemia.	0.035909779	2007	CAPN3;LOC105370794	15	42387804	A	-

GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)

GWASdb Snp Trait(Total Genotypes:0)
(Waiting for update.)

Mapped by lexical matching(Total Items:0)
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Mapped by homologous gene(Total Items:0)
(Waiting for update.)

Disease ID	801
Disease	limb-girdle muscular dystrophies
Case	(Waiting for update.)