Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

LGMDR7 MCID: MSC174 MIFTS: 42	Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7 (LGMDR7) Categories: Genetic diseases, Metabolic diseases, Muscle diseases, Neuronal diseases, Rare diseases
Genes Variations Related diseases Publications Pathways Symptoms & Phenotypes Expand all tables

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Aliases & Classifications for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7

MalaCards integrated aliases for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7:

Name: Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7 ⁵⁸ ⁷⁶

Lgmd2g ⁵⁸ ⁵⁴ ⁶⁰ ⁷⁶ ⁵⁶

Muscular Dystrophy, Limb-Girdle, Type 2g ⁵⁸ ⁵⁴ ⁷⁶ ¹³

Limb-Girdle Muscular Dystrophy, Type 2g ⁵⁴ ³⁰ ⁶

Lgmdr7 ⁵⁸ ⁷⁶

Limb-Girdle Muscular Dystrophy Due to Telethonin Deficiency ⁶⁰

Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2g ⁶⁰

Muscular Dystrophy, Limb-Girdle, Type 2g; Lgmd2g ⁵⁸

Dystrophy, Muscular, Limb-Girdle, Type 2g ⁴¹

Limb-Girdle Muscular Dystrophy 2g ⁷⁶

Characteristics:

Orphanet epidemiological data:

⁶⁰

autosomal recessive limb-girdle muscular dystrophy type 2g
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent,Childhood,Infancy;

OMIM:

⁵⁸

Inheritance:
autosomal recessive

Miscellaneous:
mean age at onset 12.5 years (range 2 to 15 years)
genetic heterogeneity, see lgmd2a
allelic disorder to dilated cardiomyopathy 1n (cmd1n, )

HPO:

³³

muscular dystrophy, limb-girdle, autosomal recessive 7:
Inheritance autosomal recessive inheritance

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Metabolic diseases
Anatomical: Neuronal diseases Muscle diseases

See all MalaCards categories (disease lists)

ICD10: ³⁵

Diseases of the nervous system

Diseases of myoneural junction and muscle

Primary disorders of muscles

Muscular dystrophy

Orphanet: ⁶⁰

Rare neurological diseases

External Ids:

OMIM ⁵⁸ 601954

MeSH ⁴⁵ D049288

ICD10 via Orphanet ³⁵ G71.0

UMLS via Orphanet ⁷⁵ C1866008

Orphanet ⁶⁰ ORPHA34514

MedGen ⁴³ C1866008

SNOMED-CT via HPO ⁷⁰ 193225000 228158008 258211005 more

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Summaries for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7

NIH Rare Diseases : ⁵⁴ The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 34514Disease definitionA mild subtype of autosomal recessive limb-girdle muscular dystrophy characterized by a variable onset (ranging from infancy to adolescence) of progressive proximal upper and lower limb muscle weakness and atrophy. Mild scapular winging, calf hypertrophy, and lack of respiratory and cardiac involvement are also observed.Visit the Orphanet disease page for more resources.

MalaCards based summary : Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7, also known as lgmd2g, is related to autosomal recessive limb-girdle muscular dystrophy type 2g and limb-girdle muscular dystrophy. An important gene associated with Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7 is TCAP (Titin-Cap), and among its related pathways/superpathways are Cardiac conduction and Striated Muscle Contraction. Related phenotypes are areflexia of lower limbs and rimmed vacuoles

UniProtKB/Swiss-Prot : ⁷⁶ Muscular dystrophy, limb-girdle, autosomal recessive 7: An autosomal recessive degenerative myopathy characterized by proximal and distal muscle weakness and atrophy in the limbs, dystrophic changes on muscle biopsy, and absence of telethonin. Cardiac muscle is involved in a subset of patients.

Description from OMIM: 601954

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Related Diseases for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7

Diseases in the Limb-Girdle Muscular Dystrophy family:

Diseases related to Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 53)

#	Related Disease	Score	Top Affiliating Genes
1	autosomal recessive limb-girdle muscular dystrophy type 2g	32.2	CAPN3 DYSF MYOT TCAP
2	limb-girdle muscular dystrophy	28.4	CAPN3 DMD DYSF FKRP MYOT TCAP
3	muscular dystrophy	27.7	CAPN3 DMD DYSF FKRP MYOT TCAP
4	autosomal recessive limb-girdle muscular dystrophy type 2f	10.2	CAPN3 DYSF
5	localized lipodystrophy	10.1	DMD DYSF
6	creatine phosphokinase, elevated serum	10.1	DMD TCAP
7	dysferlinopathy	10.1	CAPN3 DYSF
8	autosomal recessive limb-girdle muscular dystrophy type 2l	10.1	DYSF FKRP
9	stormorken syndrome	10.0	DMD DYSF
10	paresthesia	10.0	CAPN3 FKRP
11	muscular dystrophy, becker type	10.0	DMD DYSF
12	myopathy, myofibrillar, 2	10.0	DMD MYOT
13	muscular dystrophy, congenital, 1b	10.0	DMD FKRP
14	muscular dystrophy-dystroglycanopathy , type a, 1	9.9	DMD FKRP
15	muscular dystrophy-dystroglycanopathy , type a, 4	9.9	DMD FKRP
16	tibial muscular dystrophy	9.9	CAPN3 TTN
17	autosomal recessive limb-girdle muscular dystrophy type 2c	9.9	CAPN3 DMD DYSF
18	cardioneuromyopathy with hyaline masses and nemaline rods	9.9	DMD TTN
19	autosomal recessive limb-girdle muscular dystrophy type 2b	9.9	CAPN3 DMD DYSF
20	muscular dystrophy-dystroglycanopathy , type b, 6	9.9	DMD FKRP
21	bethlem myopathy 1	9.9	CAPN3 DMD DYSF
22	myopathy, myofibrillar, 3	9.9	MYOT TTN
23	myopathy, congenital	9.9	DMD DYSF
24	muscular dystrophy-dystroglycanopathy , type b, 5	9.9	DMD FKRP
25	reducing body myopathy	9.8	DMD TTN
26	autosomal recessive limb-girdle muscular dystrophy type 2d	9.8	CAPN3 DYSF FKRP
27	myopathy, spheroid body	9.8	MYOT TTN
28	polyglucosan body myopathy 1 with or without immunodeficiency	9.8	CAPN3 DMD FKRP
29	congenital fiber-type disproportion	9.7	DMD DYSF
30	centronuclear myopathy	9.7	DMD TTN
31	familial isolated dilated cardiomyopathy	9.7	DMD TCAP TTN
32	intrinsic cardiomyopathy	9.7	DMD TTN
33	left ventricular noncompaction	9.7	DMD TCAP TTN
34	rigid spine muscular dystrophy 1	9.7	DMD DYSF TTN
35	neuromuscular disease	9.6	DMD MYOT TTN
36	isolated hyperckemia	9.6	CAPN3 DMD FKRP TCAP
37	autosomal recessive limb-girdle muscular dystrophy type 2h	9.6	CAPN3 FKRP MYOT TRIM32
38	muscular dystrophy, congenital, lmna-related	9.5	DMD FKRP TTN
39	myofibrillar myopathy	9.4	DMD MYOT TCAP TTN
40	myopathy	9.4	CAPN3 DYSF MYOT TTN
41	myositis	9.4	CAPN3 DMD DYSF TTN
42	dilated cardiomyopathy	9.3	DMD FKRP TCAP TTN
43	autosomal recessive limb-girdle muscular dystrophy type 2j	9.3	CAPN3 FKRP MYOT TTN
44	atrial standstill 1	9.2	DMD FKRP MYOT TTN
45	muscle tissue disease	9.2	CAPN3 DMD DYSF FKRP MYOT
46	autosomal recessive limb-girdle muscular dystrophy	9.1	CAPN3 DMD DYSF FKRP TCAP TRIM32
47	miyoshi muscular dystrophy	9.1	CAPN3 DMD DYSF MYOT TTN
48	autosomal recessive limb-girdle muscular dystrophy type 2a	9.1	CAPN3 DYSF FKRP MYOT TTN
49	muscular dystrophy, limb-girdle, autosomal recessive 8	9.0	CAPN3 DYSF FKRP TCAP TRIM32 TTN
50	muscular dystrophy-dystroglycanopathy , type c, 5	9.0	CAPN3 DYSF FKRP TCAP TRIM32 TTN

Graphical network of the top 20 diseases related to Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7:

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Symptoms & Phenotypes for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7

Human phenotypes related to Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7:

³³ (show all 16)

#	Description	HPO Source Accession
1	areflexia of lower limbs ³³	HP:0002522
2	rimmed vacuoles ³³	HP:0003805
3	proximal upper limb amyotrophy ³³	HP:0008948
4	proximal muscle weakness in lower limbs ³³	HP:0008994
5	proximal muscle weakness in upper limbs ³³	HP:0008997
6	difficulty walking ³³	HP:0002355
7	increased connective tissue ³³	HP:0009025
8	increased variability in muscle fiber diameter ³³	HP:0003557
9	foot dorsiflexor weakness ³³	HP:0009027
10	distal lower limb muscle weakness ³³	HP:0009053
11	muscular dystrophy ³³	HP:0003560
12	difficulty climbing stairs ³³	HP:0003551
13	difficulty running ³³	HP:0009046
14	calf muscle hypertrophy ³³	HP:0008981
15	distal lower limb amyotrophy ³³	HP:0008944
16	elevated serum creatine kinase ³³	HP:0003236

Symptoms via clinical synopsis from OMIM:

⁵⁸

Muscle Soft Tissue:
rimmed vacuoles
proximal muscle weakness in lower limbs
proximal muscle weakness in upper limbs
increased connective tissue
difficulty climbing stairs
more

Cardiovascular Heart:
cardiac muscle is involved in a subset of patients

Laboratory Abnormalities:
increased serum creatine kinase
creatine kinase levels may normalize with disease progression

Clinical features from OMIM:

601954

MGI Mouse Phenotypes related to Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7:

⁴⁷

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	behavior/neurological	MP:0005386	9.73	DMD DYSF FKRP TCAP TRIM32 TTN
2	homeostasis/metabolism	MP:0005376	9.7	CAPN3 DMD DYSF FKRP TCAP TRIM32
3	muscle	MP:0005369	9.5	CAPN3 DMD DYSF FKRP TCAP TRIM32
4	normal	MP:0002873	9.02	CAPN3 DMD FKRP MYOT TTN

Sources

Drugs & Therapeutics for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7

Interventional clinical trials:

#	Name	Status	NCT ID	Phase	Drugs
1	Congenital Muscle Disease Study of Patient and Family Reported Medical Information	Recruiting	NCT01403402

Search NIH Clinical Center for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7

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Genetic Tests for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7

Genetic tests related to Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7:

#	Genetic test	Affiliating Genes
1	Limb-Girdle Muscular Dystrophy, Type 2g ³⁰	TCAP

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Anatomical Context for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7

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Publications for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7

Articles related to Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7:

#	Title	Authors	Year
1	Rare diagnosis of telethoninopathy (LGMD2G) in a Turkish patient. ( 28666572 )	Ikenberg E...Walter MC	2017
2	Corrigendum to 'Rare diagnosis of telethoninopathy (LGMD2G) in a Turkish patient' [Neuromuscular Disorders 27 (2017) 856-860]. ( 29074295 )	Ikenberg E...Walter MC	2017
3	Limb girdle muscular dystrophy type 2G with myopathic-neurogenic motor unit potentials and a novel muscle image pattern. ( 25298746 )	Cotta A...Vainzof M	2014
4	Limb-girdle muscular dystrophy type 2G is caused by mutations in the gene encoding the sarcomeric protein telethonin. ( 10655062 )	Moreira ES...Jenne DE	2000
5	Seven autosomal recessive limb-girdle muscular dystrophies in the Brazilian population: from LGMD2A to LGMD2G. ( 10069710 )	Passos-Bueno MR...Zatz M	1999

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Genes for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7

Genes related to Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	TCAP	Titin-Cap	Protein Coding	1380.46	Molecular basis known ⁵⁸ Pathogenic ⁶ Causative germline mutation ⁶⁰ Genetic Tests ³⁰ Novoseek inferred ⁵⁶ GeneCards inferred via : Disorders (show sections)	10655062 20301486 10069710 (more) 11665864 20233748 14959561 18440815 19679566 18948002 15316618 12379311
2	TRIM32	Tripartite Motif Containing 32	Protein Coding	21.77	Novoseek inferred ⁵⁶	14959561 15316618 11665864
3	DYSF	Dysferlin	Protein Coding	21.39	Novoseek inferred ⁵⁶	11665864 14959561 15316618 (more) 10069710
4	CAPN3	Calpain 3	Protein Coding	21.32	Novoseek inferred ⁵⁶	11665864 14959561 15316618
5	MYOT	Myotilin	Protein Coding	20.92	Novoseek inferred ⁵⁶	15316618 12379311
6	FKRP	Fukutin Related Protein	Protein Coding	20.79	Novoseek inferred ⁵⁶	14959561 15316618
7	TTN	Titin	Protein Coding	19.85	Novoseek inferred ⁵⁶	14959561 15316618 12379311
8	DMD	Dystrophin	Protein Coding	17.95	Novoseek inferred ⁵⁶	11665864

Sources

Variations for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7

ClinVar genetic disease variations for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7:

⁶ (show all 16)

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	TCAP	NM_003673.3(TCAP): c.157C> T (p.Gln53Ter)	single nucleotide variant	Likely pathogenic	rs104894655	GRCh37	Chromosome 17, 37822015: 37822015
2	TCAP	NM_003673.3(TCAP): c.157C> T (p.Gln53Ter)	single nucleotide variant	Likely pathogenic	rs104894655	GRCh38	Chromosome 17, 39665762: 39665762
3	TCAP	NM_003673.3(TCAP): c.109_110delGG (p.Gly37Leufs)	deletion	Pathogenic	rs786205076	GRCh37	Chromosome 17, 37821721: 37821722
4	TCAP	NM_003673.3(TCAP): c.109_110delGG (p.Gly37Leufs)	deletion	Pathogenic	rs786205076	GRCh38	Chromosome 17, 39665468: 39665469
5	TCAP	NM_003673.3(TCAP): c.458G> A (p.Arg153His)	single nucleotide variant	Uncertain significance	rs149585781	GRCh37	Chromosome 17, 37822316: 37822316
6	TCAP	NM_003673.3(TCAP): c.458G> A (p.Arg153His)	single nucleotide variant	Uncertain significance	rs149585781	GRCh38	Chromosome 17, 39666063: 39666063
7	TCAP	NM_003673.3(TCAP): c.32C> A (p.Ser11Ter)	single nucleotide variant	Likely pathogenic	rs45495192	GRCh37	Chromosome 17, 37821644: 37821644
8	TCAP	NM_003673.3(TCAP): c.32C> A (p.Ser11Ter)	single nucleotide variant	Likely pathogenic	rs45495192	GRCh38	Chromosome 17, 39665391: 39665391
9	TCAP	NM_003673.3(TCAP): c.113G> T (p.Cys38Phe)	single nucleotide variant	Uncertain significance	rs375310569	GRCh38	Chromosome 17, 39665718: 39665718
10	TCAP	NM_003673.3(TCAP): c.113G> T (p.Cys38Phe)	single nucleotide variant	Uncertain significance	rs375310569	GRCh37	Chromosome 17, 37821971: 37821971
11	TCAP	NM_003673.3(TCAP): c.24_25insGAGGTGT (p.Ser11Terfs)	insertion	Likely pathogenic	rs863224933	GRCh37	Chromosome 17, 37821636: 37821637
12	TCAP	NM_003673.3(TCAP): c.24_25insGAGGTGT (p.Ser11Terfs)	insertion	Likely pathogenic	rs863224933	GRCh38	Chromosome 17, 39665383: 39665384
13	TCAP	NM_003673.3(TCAP): c.43_49dupTGTGAGC (p.Arg17Leufs)	duplication	Likely pathogenic	rs886044421	GRCh37	Chromosome 17, 37821655: 37821661
14	TCAP	NM_003673.3(TCAP): c.43_49dupTGTGAGC (p.Arg17Leufs)	duplication	Likely pathogenic	rs886044421	GRCh38	Chromosome 17, 39665402: 39665408
15	TCAP	NM_003673.3(TCAP): c.34dup (p.Glu12Glyfs)	duplication	Likely pathogenic	rs1555606959	GRCh38	Chromosome 17, 39665393: 39665393
16	TCAP	NM_003673.3(TCAP): c.34dup (p.Glu12Glyfs)	duplication	Likely pathogenic	rs1555606959	GRCh37	Chromosome 17, 37821646: 37821646

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Expression for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7

Search GEO for disease gene expression data for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7.

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Pathways for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7

Pathways related to Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7 according to GeneCards Suite gene sharing:

#	Super pathways	Score	Top Affiliating Genes
1	Cardiac conduction ⁶⁷ Show member pathways Classical Kir channels ⁶⁷ Ion homeostasis ⁶⁷ Ion transport by P-type ATPases ⁶⁷ Muscle contraction ⁶⁷ Phase 1 - inactivation of fast Na+ channels ⁶⁷ Phase 3 - rapid repolarisation ⁶⁷ Phase 4 - resting membrane potential ⁶⁷ Physiological factors ⁶⁷ Tandem of pore domain in a weak inwardly rectifying K+ channels (TWIK) ⁶⁷ Tandem pore domain halothane-inhibited K+ channel (THIK) ⁶⁷ Tandem pore domain potassium channels ⁶⁷ TWIK related potassium channel (TREK) ⁶⁷ TWIK-related alkaline pH activated K+ channel (TALK) ⁶⁷ TWIK-related spinal cord K+ channel (TRESK) ⁶⁷ TWIK-releated acid-sensitive K+ channel (TASK) ⁶⁷	11.98	DMD DYSF TCAP TTN
2	Striated Muscle Contraction ¹ ⁶⁷	10.66	DMD TCAP TTN

Sources

GO Terms for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7

Cellular components related to Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	sarcomere	GO:0030017	9.4	TCAP TTN
2	myofibril	GO:0030016	9.37	CAPN3 DMD
3	T-tubule	GO:0030315	9.32	CAPN3 DYSF
4	I band	GO:0031674	9.26	TCAP TTN
5	sarcolemma	GO:0042383	9.26	DMD DYSF FKRP MYOT
6	Z disc	GO:0030018	9.02	CAPN3 DMD MYOT TCAP TTN
7	dystrophin-associated glycoprotein complex	GO:0016010	8.85	DMD

Biological processes related to Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7 according to GeneCards Suite gene sharing:

(show all 20)

#	Name	GO ID	Score	Top Affiliating Genes
1	regulation of catalytic activity	GO:0050790	9.59	CAPN3 TTN
2	fat cell differentiation	GO:0045444	9.58	DYSF TRIM32
3	response to calcium ion	GO:0051592	9.58	CAPN3 TTN
4	muscle contraction	GO:0006936	9.58	DYSF MYOT TTN
5	skeletal muscle tissue regeneration	GO:0043403	9.57	DMD DYSF
6	cardiac muscle tissue morphogenesis	GO:0055008	9.56	TCAP TTN
7	cardiac myofibril assembly	GO:0055003	9.55	TCAP TTN
8	positive regulation of proteolysis	GO:0045862	9.54	CAPN3 TRIM32
9	cardiac muscle fiber development	GO:0048739	9.52	TCAP TTN
10	response to muscle stretch	GO:0035994	9.51	DMD TCAP
11	skeletal muscle thin filament assembly	GO:0030240	9.49	TCAP TTN
12	muscle fiber development	GO:0048747	9.48	DMD DYSF
13	cardiac muscle hypertrophy	GO:0003300	9.46	TCAP TTN
14	skeletal muscle myosin thick filament assembly	GO:0030241	9.43	TCAP TTN
15	cardiac muscle contraction	GO:0060048	9.43	DMD TCAP TTN
16	detection of muscle stretch	GO:0035995	9.37	TCAP TTN
17	sarcomere organization	GO:0045214	9.33	CAPN3 TCAP TTN
18	sarcomerogenesis	GO:0048769	9.32	TCAP TTN
19	muscle filament sliding	GO:0030049	9.13	DMD TCAP TTN
20	muscle cell cellular homeostasis	GO:0046716	8.8	CAPN3 DMD TRIM32

Molecular functions related to Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	protein self-association	GO:0043621	9.32	TRIM32 TTN
2	myosin binding	GO:0017022	9.26	DMD TRIM32
3	titin binding	GO:0031432	9.16	CAPN3 TCAP
4	structural constituent of muscle	GO:0008307	9.02	CAPN3 DMD MYOT TCAP TTN
5	dystroglycan binding	GO:0002162	8.96	DMD FKRP

Sources

Sources for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

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¹⁶ DrugBank

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¹⁹ FDA Approved Drugs

²⁰ FMA

²¹ GeneAnalytics

²² GeneCards

²³ GeneGo (Thomson Reuters)

²⁴ GeneHancer via GeneCards

²⁵ GeneReviews

²⁶ Genetics Home Reference

²⁷ GenomeRNAi

²⁸ GEO DataSets

²⁹ GO

³⁰ GTR

³¹ HGMD

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³³ HPO

³⁴ ICD10

³⁵ ICD10 via Orphanet

³⁶ ICD9CM

³⁷ IUPHAR

³⁸ KEGG

³⁹ LifeMap

⁴⁰ LncRNADisease

⁴¹ LOVD

⁴² MalaCards

⁴³ MedGen

⁴⁴ MedlinePlus

⁴⁵ MeSH

⁴⁶ MESH via Orphanet

⁴⁷ MGI

⁴⁸ miR2Disease

⁴⁹ NCBI Bookshelf

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⁵¹ NCIt

⁵² NDF-RT

⁵³ NIH Clinical Center

⁵⁴ NIH Rare Diseases

⁵⁵ NINDS

⁵⁶ Novoseek

⁵⁷ Novus Biologicals

⁵⁸ OMIM

⁵⁹ OMIM via Orphanet

⁶⁰ Orphanet

⁶¹ PathCards

⁶² PharmGKB

⁶³ PubMed

⁶⁴ PubMed Health

⁶⁵ QIAGEN

⁶⁶ R&D Systems

⁶⁷ Reactome

⁶⁸ Sino Biological

⁶⁹ SNOMED-CT

⁷⁰ SNOMED-CT via HPO

⁷¹ SNOMED-CT via Orphanet

⁷² TGDB

⁷³ Tocris

⁷⁴ UMLS

⁷⁵ UMLS via Orphanet

⁷⁶ UniProtKB/Swiss-Prot

⁷⁷ Wikipedia

Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7 (LGMDR7)

Aliases & Classifications for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7

MalaCards integrated aliases for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7:

Characteristics:

Orphanet epidemiological data:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7

Related Diseases for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7

Diseases in the Limb-Girdle Muscular Dystrophy family:

Diseases related to Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7 via text searches within MalaCards or GeneCards Suite gene sharing:

Graphical network of the top 20 diseases related to Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7:

Symptoms & Phenotypes for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7

Human phenotypes related to Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7:

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

MGI Mouse Phenotypes related to Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7:

Drugs & Therapeutics for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7

Interventional clinical trials:

Genetic Tests for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7

Genetic tests related to Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7:

Anatomical Context for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7

Publications for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7

Articles related to Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7:

Genes for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7

Genes related to Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7 (1 elite genes):

Variations for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7

ClinVar genetic disease variations for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7:

Expression for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7

Pathways for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7

Pathways related to Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7 according to GeneCards Suite gene sharing:

GO Terms for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7

Cellular components related to Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7 according to GeneCards Suite gene sharing:

Biological processes related to Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7 according to GeneCards Suite gene sharing:

Molecular functions related to Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7 according to GeneCards Suite gene sharing:

Sources for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7