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

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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 ⁵⁷ ⁷²

Muscular Dystrophy, Limb-Girdle, Type 2g ⁵⁷ ²⁰ ⁷² ¹³ ⁷⁰

Lgmd2g ⁵⁷ ²⁰ ⁵⁸ ⁷² ⁵⁴

Limb-Girdle Muscular Dystrophy, Type 2g ²⁰ ⁶

Lgmdr7 ⁵⁷ ⁷²

Limb-Girdle Muscular Dystrophy Due to Telethonin Deficiency ⁵⁸

Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2g ⁵⁸

Telethonin-Related Limb-Girdle Muscular Dystrophy R7 ⁵⁸

Muscular Dystrophy, Limb-Girdle, Type 2g; Lgmd2g ⁵⁷

Dystrophy, Muscular, Limb-Girdle, Type 2g ³⁹

Limb-Girdle Muscular Dystrophy Type 2g ⁵⁸

Lgmd Due to Telethonin Deficiency ⁵⁸

Limb-Girdle Muscular Dystrophy 2g ⁷²

Telethonin-Related Lgmd R7 ⁵⁸

Lgmd Type 2g ⁵⁸

Characteristics:

Orphanet epidemiological data:

⁵⁸

telethonin-related limb-girdle muscular dystrophy r7
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent,Childhood,Infancy;

OMIM®:

⁵⁷ (Updated 05-Apr-2021)

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:

³¹

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 Respiratory diseases

See all MalaCards categories (disease lists)

ICD10: ³³

Diseases of the nervous system

Diseases of myoneural junction and muscle

Primary disorders of muscles

Muscular dystrophy

Orphanet: ⁵⁸

Rare neurological diseases

External Ids:

OMIM® ⁵⁷ 601954

OMIM Phenotypic Series ⁵⁷ PS253600

MeSH ⁴⁴ D049288

ICD10 via Orphanet ³³ G71.0

UMLS via Orphanet ⁷¹ C1866008

Orphanet ⁵⁸ ORPHA34514

MedGen ⁴¹ C1866008

SNOMED-CT via HPO ⁶⁸ 193225000 228158008 258211005 more

UMLS ⁷⁰ C1866008

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

GARD : ²⁰ The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 34514 Definition A 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.

MalaCards based summary : Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7, also known as muscular dystrophy, limb-girdle, type 2g, is related to autosomal recessive limb-girdle muscular dystrophy type 2g and foot drop. 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. Affiliated tissues include skeletal muscle, and related phenotypes are elevated serum creatine kinase and rimmed vacuoles

UniProtKB/Swiss-Prot : ⁷² 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.

More information from OMIM: 601954 PS253600

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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 94)

#	Related Disease	Score	Top Affiliating Genes
1	autosomal recessive limb-girdle muscular dystrophy type 2g	30.6	TTN TCAP MYOT FKRP DYSF CAPN3
2	foot drop	29.9	TTN MYOT DYSF
3	cardiomyopathy, familial hypertrophic, 1	29.8	TTN TCAP DMD
4	muscular dystrophy, duchenne type	29.3	TTN TCAP DMD
5	muscle hypertrophy	29.1	TTN FKRP DMD
6	dilated cardiomyopathy	29.0	TTN TCAP MYOT FKRP DMD
7	muscular dystrophy, congenital, lmna-related	28.3	TTN TCAP MYOT FKRP DYSF DMD
8	muscular dystrophy, limb-girdle, autosomal recessive 4	28.3	TTN TRIM32 TCAP FKRP DYSF CAPN3
9	muscular dystrophy, limb-girdle, autosomal recessive 8	28.3	TTN TRIM32 TCAP FKRP DYSF CAPN3
10	limb-girdle muscular dystrophy	28.1	TTN TRIM32 TCAP MYOT FKRP DYSF
11	muscular dystrophy, limb-girdle, autosomal recessive 6	27.9	TTN TRIM32 TCAP FKRP DYSF DMD
12	muscular dystrophy	27.7	TTN TRIM32 TCAP MYOT FKRP DYSF
13	autosomal recessive limb-girdle muscular dystrophy	27.5	TTN TRIM32 TCAP MYOT FKRP DYSF
14	myopathy	27.5	TTN TRIM32 TCAP MYOT FKRP DYSF
15	muscular dystrophy, limb-girdle, autosomal recessive 2	27.4	TTN TRIM32 TCAP MYOT FKRP DYSF
16	cardiomyopathy, familial hypertrophic, 25	10.3
17	hypertrophic cardiomyopathy	10.3
18	autosomal recessive limb-girdle muscular dystrophy type 2q	10.1	TCAP MYOT
19	localized lipodystrophy	10.1	DYSF DMD
20	dysferlinopathy	10.1	DYSF CAPN3
21	myopathy, spheroid body	10.1	TCAP MYOT
22	miyoshi muscular dystrophy 3	10.0	DYSF CAPN3
23	autosomal recessive limb-girdle muscular dystrophy type 2x	10.0	MYOT DYSF
24	cardiomyopathy, dilated, 3b	10.0	DYSF DMD
25	limb-girdle muscular dystrophy type 1c	10.0	FKRP DYSF
26	paresthesia	10.0	FKRP CAPN3
27	muscular dystrophy-dystroglycanopathy , type c, 2	10.0	FKRP CAPN3
28	muscular dystrophy-dystroglycanopathy , type c, 1	9.9	MYOT FKRP
29	cobblestone lissencephaly	9.9	FKRP DMD
30	muscular dystrophy, limb-girdle, autosomal recessive 1	9.9
31	muscular dystrophy, limb-girdle, autosomal recessive 5	9.9
32	muscular dystrophy, limb-girdle, autosomal recessive 3	9.9
33	autosomal dominant limb-girdle muscular dystrophy	9.9	TCAP MYOT CAPN3
34	congenital muscular dystrophy-dystroglycanopathy type a	9.9	FKRP DMD
35	muscular dystrophy, limb-girdle, autosomal dominant 1	9.8	MYOT DYSF CAPN3
36	cardioneuromyopathy with hyaline masses and nemaline rods	9.8	TTN DMD
37	reducing body myopathy	9.8	TTN DMD
38	muscular dystrophy-dystroglycanopathy , type a, 4	9.8	FKRP DMD
39	muscular dystrophy-dystroglycanopathy	9.8	FKRP DYSF DMD
40	hyaline body myopathy	9.8	TTN MYOT
41	cardiomyopathy, familial hypertrophic, 4	9.8	TTN DMD
42	congenital structural myopathy	9.8	TTN MYOT
43	muscular dystrophy, congenital merosin-deficient, 1a	9.8	FKRP DYSF DMD
44	polyglucosan body myopathy 1 with or without immunodeficiency	9.7	FKRP DMD CAPN3
45	glycogen storage disease ii	9.7	FKRP DMD CAPN3
46	creatine phosphokinase, elevated serum	9.7	TRIM32 TCAP DMD CAPN3
47	myoglobinuria	9.7	FKRP DMD
48	myopathy, myofibrillar, 4	9.7	TTN TCAP MYOT
49	intrinsic cardiomyopathy	9.7	TTN TCAP DMD
50	cardiomyopathy, dilated, 1a	9.6	TTN MYOT

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:

³¹ (show all 16)

#	Description	HPO Source Accession
1	elevated serum creatine kinase ³¹	HP:0003236
2	rimmed vacuoles ³¹	HP:0003805
3	proximal upper limb amyotrophy ³¹	HP:0008948
4	proximal muscle weakness in lower limbs ³¹	HP:0008994
5	proximal muscle weakness in upper limbs ³¹	HP:0008997
6	distal lower limb muscle weakness ³¹	HP:0009053
7	muscular dystrophy ³¹	HP:0003560
8	calf muscle hypertrophy ³¹	HP:0008981
9	difficulty walking ³¹	HP:0002355
10	increased variability in muscle fiber diameter ³¹	HP:0003557
11	foot dorsiflexor weakness ³¹	HP:0009027
12	distal lower limb amyotrophy ³¹	HP:0008944
13	difficulty climbing stairs ³¹	HP:0003551
14	increased connective tissue ³¹	HP:0009025
15	areflexia of lower limbs ³¹	HP:0002522
16	difficulty running ³¹	HP:0009046

Symptoms via clinical synopsis from OMIM®:

⁵⁷ (Updated 05-Apr-2021)

Muscle Soft Tissue:
rimmed vacuoles
proximal muscle weakness in lower limbs
proximal muscle weakness in upper limbs
difficulty climbing stairs
increased connective tissue
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 (Updated 05-Apr-2021)

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

⁴⁶

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

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

Search Clinical Trials , 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

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

MalaCards organs/tissues related to Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7:

⁴⁰

Skeletal Muscle

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

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

(show all 28)

#	Title	Authors	PMID	Year
1	Limb-girdle muscular dystrophy type 2G is caused by mutations in the gene encoding the sarcomeric protein telethonin. ⁶ ⁵⁷	Moreira ES...Jenne DE	10655062	2000
2	Functional muscle analysis of the Tcap knockout mouse. ⁵⁷ ⁵⁴ ⁶¹	Markert CD...Childers MK	20233748	2010
3	Depletion of zebrafish Tcap leads to muscular dystrophy via disrupting sarcomere-membrane interaction, not sarcomere assembly. ⁵⁷ ⁵⁴ ⁶¹	Zhang R...Xu X	19679566	2009
4	The seventh form of autosomal recessive limb-girdle muscular dystrophy is mapped to 17q11-12. ⁶¹ ⁵⁷	Moreira ES...Passos-Bueno MR	9245996	1997
5	229th ENMC international workshop: Limb girdle muscular dystrophies - Nomenclature and reformed classification Naarden, the Netherlands, 17-19 March 2017. ⁵⁷	Straub V...LGMD workshop study group	30055862	2018
6	Transcription-terminating mutation in telethonin causing autosomal recessive muscular dystrophy type 2G in a European patient. ⁵⁴ ⁶¹	Olive M...Ferrer I	18948002	2008
7	TCAP knockdown by RNA interference inhibits myoblast differentiation in cultured skeletal muscle cells. ⁵⁴ ⁶¹	Markert CD...Childers MK	18440815	2008
8	[Limb girdle muscular dystrophies]. ⁵⁴ ⁶¹	Finsterer J	15316618	2004
9	Molecular bases of autosomal recessive limb-girdle muscular dystrophies. ⁵⁴ ⁶¹	Nigro V	14959561	2003
10	Telethonin protein expression in neuromuscular disorders. ⁵⁴ ⁶¹	Vainzof M...Zatz M	12379311	2002
11	Dysferlin protein analysis in limb-girdle muscular dystrophies. ⁶¹ ⁵⁴	Vainzof M...Zatz M	11665864	2001
12	Seven autosomal recessive limb-girdle muscular dystrophies in the Brazilian population: from LGMD2A to LGMD2G. ⁶¹ ⁵⁴	Passos-Bueno MR...Zatz M	10069710	1999
13	Distal myopathy due to TCAP variants in four unrelated Chinese patients. ⁶¹	Lv X...Yan C	32761539	2021
14	Clinicogenetic lessons from 370 patients with autosomal recessive limb-girdle muscular dystrophy. ⁶¹	Winckler PB...Saute JA	31268554	2019
15	Precise therapeutic gene correction by a simple nuclease-induced double-stranded break. ⁶¹	Iyer S...Wolfe SA	30944467	2019
16	Limb girdle muscular dystrophy 2G in a religious minority of Bulgarian Muslims homozygous for the c.75G>A, p.Trp25X mutation. ⁶¹	Chamova T...Tournev I	29935994	2018
17	Corrigendum to 'Rare diagnosis of telethoninopathy (LGMD2G) in a Turkish patient' [Neuromuscular Disorders 27 (2017) 856-860]. ⁶¹	Ikenberg E...Walter MC	29074295	2017
18	Rare diagnosis of telethoninopathy (LGMD2G) in a Turkish patient. ⁶¹	Ikenberg E...Walter MC	28666572	2017
19	Clinical applications of next-generation sequencing-based gene panel in patients with muscular dystrophy: Korean experience. ⁶¹	Seong MW...Chae JH	26060040	2016
20	A prospective study on the immunophenotypic characterization of limb girdle muscular dystrophies 2 in India. ⁶¹	Nalini A...Preethish-Kumar V	26238890	2015
21	Conserved expression of truncated telethonin in a patient with limb-girdle muscular dystrophy 2G. ⁶¹	Barresi R...Straub V	25724973	2015
22	Genetic basis of limb-girdle muscular dystrophies: the 2014 update. ⁶¹	Nigro V...Savarese M	24843229	2014
23	Novel TCAP mutation c.32C>A causing limb girdle muscular dystrophy 2G. ⁶¹	Francis A...Thangaraj K	25055047	2014
24	Limb girdle muscular dystrophy type 2G with myopathic-neurogenic motor unit potentials and a novel muscle image pattern. ⁶¹	Cotta A...Vainzof M	25298746	2014
25	Muscle phenotypic variability in limb girdle muscular dystrophy 2 G. ⁶¹	Paim JF...Vainzof M	23479141	2013
26	A human skeletal muscle interactome centered on proteins involved in muscular dystrophies: LGMD interactome. ⁶¹	Blandin G...Richard I	23414517	2013
27	Transcriptional analysis of the titin cap gene. ⁶¹	Zhang S...Davie JK	21305318	2011
28	[LGMD2G]. ⁶¹	Matsumura K	11556000	2001

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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	PubMed IDs
1	TCAP	Titin-Cap	Protein Coding	1295.08	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative germline mutation ⁵⁸ Likely pathogenic ⁶ Novoseek inferred ⁵⁴ GeneCards inferred via : Disorders (show sections)	10655062 20301582 10069710 (more) 11665864 20233748 14959561 18440815 19679566 18948002 15316618 12379311
2	TRIM32	Tripartite Motif Containing 32	Protein Coding	11.77	Novoseek inferred ⁵⁴	14959561 15316618 11665864
3	DYSF	Dysferlin	Protein Coding	11.39	Novoseek inferred ⁵⁴	11665864 14959561 15316618 (more) 10069710
4	CAPN3	Calpain 3	Protein Coding	11.32	Novoseek inferred ⁵⁴	11665864 14959561 15316618
5	MYOT	Myotilin	Protein Coding	10.92	Novoseek inferred ⁵⁴	15316618 12379311
6	FKRP	Fukutin Related Protein	Protein Coding	10.79	Novoseek inferred ⁵⁴	14959561 15316618
7	TTN	Titin	Protein Coding	9.85	Novoseek inferred ⁵⁴	14959561 15316618 12379311
8	DMD	Dystrophin	Protein Coding	7.95	Novoseek inferred ⁵⁴	11665864

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

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

⁶ (show all 30)

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	Position
1	TCAP	NM_003673.3(TCAP):c.110_110+1del	Deletion	Pathogenic	5526	rs786205076	GRCh37: 17:37821720-37821721 GRCh38: 17:39665467-39665468
2	TCAP	NM_003673.4(TCAP):c.157C>T (p.Gln53Ter)	SNV	Pathogenic	5525	rs104894655	GRCh37: 17:37822015-37822015 GRCh38: 17:39665762-39665762
3	TCAP	NM_003673.4(TCAP):c.75G>A (p.Trp25Ter)	SNV	Likely pathogenic	813977	rs778851652	GRCh37: 17:37821687-37821687 GRCh38: 17:39665434-39665434
4	TCAP	NM_003673.3(TCAP):c.32C>A (p.Ser11Ter)	SNV	Likely pathogenic	140582	rs45495192	GRCh37: 17:37821644-37821644 GRCh38: 17:39665391-39665391
5	TCAP	NM_003673.3(TCAP):c.25_31dup (p.Ser11Ter)	Duplication	Likely pathogenic	217014	rs863224933	GRCh37: 17:37821636-37821637 GRCh38: 17:39665383-39665384
6	TCAP	NM_003673.3(TCAP):c.34dup (p.Glu12fs)	Duplication	Likely pathogenic	522598	rs1555606959	GRCh37: 17:37821644-37821645 GRCh38: 17:39665391-39665392
7	TCAP	NM_003673.4(TCAP):c.*54G>A	SNV	Uncertain significance	889706		GRCh37: 17:37822416-37822416 GRCh38: 17:39666163-39666163
8	TCAP	NM_003673.4(TCAP):c.*128G>A	SNV	Uncertain significance	889707		GRCh37: 17:37822490-37822490 GRCh38: 17:39666237-39666237
9	TCAP	NM_003673.4(TCAP):c.*199G>T	SNV	Uncertain significance	889708		GRCh37: 17:37822561-37822561 GRCh38: 17:39666308-39666308
10	TCAP	NM_003673.4(TCAP):c.*395C>T	SNV	Uncertain significance	891260		GRCh37: 17:37822757-37822757 GRCh38: 17:39666504-39666504
11	TCAP	NM_003673.3(TCAP):c.282C>T (p.Phe94=)	SNV	Uncertain significance	464947	rs749565002	GRCh37: 17:37822140-37822140 GRCh38: 17:39665887-39665887
12	TCAP	NM_003673.4(TCAP):c.*418C>T	SNV	Uncertain significance	892449		GRCh37: 17:37822780-37822780 GRCh38: 17:39666527-39666527
13	TCAP	NM_003673.4(TCAP):c.32C>T (p.Ser11Leu)	SNV	Uncertain significance	177939	rs45495192	GRCh37: 17:37821644-37821644 GRCh38: 17:39665391-39665391
14	TCAP	NM_003673.3(TCAP):c.313G>A (p.Glu105Lys)	SNV	Uncertain significance	288969	rs146906267	GRCh37: 17:37822171-37822171 GRCh38: 17:39665918-39665918
15	TCAP	NM_003673.4(TCAP):c.60C>G (p.Ala20=)	SNV	Uncertain significance	44714	rs146502276	GRCh37: 17:37821672-37821672 GRCh38: 17:39665419-39665419
16	TCAP	NM_003673.3(TCAP):c.113G>T (p.Cys38Phe)	SNV	Uncertain significance	202108	rs375310569	GRCh37: 17:37821971-37821971 GRCh38: 17:39665718-39665718
17	TCAP	NM_003673.4(TCAP):c.313G>C (p.Glu105Gln)	SNV	Uncertain significance	191776	rs146906267	GRCh37: 17:37822171-37822171 GRCh38: 17:39665918-39665918
18	TCAP	NM_003673.3(TCAP):c.111-13C>T	SNV	Uncertain significance	323046	rs773913117	GRCh37: 17:37821956-37821956 GRCh38: 17:39665703-39665703
19	TCAP	NM_003673.3(TCAP):c.*76G>T	SNV	Uncertain significance	323047	rs45506294	GRCh37: 17:37822438-37822438 GRCh38: 17:39666185-39666185
20	TCAP	NM_003673.3(TCAP):c.*292G>A	SNV	Uncertain significance	323048	rs185210946	GRCh37: 17:37822654-37822654 GRCh38: 17:39666401-39666401
21	TCAP	NM_003673.3(TCAP):c.*297C>T	SNV	Uncertain significance	323049	rs772638575	GRCh37: 17:37822659-37822659 GRCh38: 17:39666406-39666406
22	TCAP	NM_003673.4(TCAP):c.388C>T (p.Arg130Cys)	SNV	Uncertain significance	44708	rs374886575	GRCh37: 17:37822246-37822246 GRCh38: 17:39665993-39665993
23	TCAP	NM_003673.3(TCAP):c.223G>A (p.Gly75Ser)	SNV	Uncertain significance	202111	rs753744791	GRCh37: 17:37822081-37822081 GRCh38: 17:39665828-39665828
24	TCAP	NM_003673.3(TCAP):c.389G>A (p.Arg130His)	SNV	Uncertain significance	195199	rs147503632	GRCh37: 17:37822247-37822247 GRCh38: 17:39665994-39665994
25	TCAP	NM_003673.4(TCAP):c.458G>A (p.Arg153His)	SNV	Uncertain significance	44710	rs149585781	GRCh37: 17:37822316-37822316 GRCh38: 17:39666063-39666063
26	TCAP	NM_003673.3(TCAP):c.111-13C>A	SNV	Uncertain significance	323045	rs773913117	GRCh37: 17:37821956-37821956 GRCh38: 17:39665703-39665703
27	TCAP	NM_003673.4(TCAP):c.316C>T (p.Arg106Cys)	SNV	Benign	44706	rs45578741	GRCh37: 17:37822174-37822174 GRCh38: 17:39665921-39665921
28	TCAP	NM_003673.4(TCAP):c.453A>C (p.Ala151=)	SNV	Benign	44709	rs1053651	GRCh37: 17:37822311-37822311 GRCh38: 17:39666058-39666058
29	TCAP	NM_003673.3(TCAP):c.*377G>C	SNV	Benign	323050	rs3194794	GRCh37: 17:37822739-37822739 GRCh38: 17:39666486-39666486
30	TCAP	NM_003673.3(TCAP):c.421C>G (p.Pro141Ala)	SNV	not provided	180535	rs45509691	GRCh37: 17:37822279-37822279 GRCh38: 17:39666026-39666026

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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 ⁶⁵ Show member pathways Classical Kir channels ⁶⁵ Ion homeostasis ⁶⁵ Ion transport by P-type ATPases ⁶⁵ Muscle contraction ⁶⁵ Phase 1 - inactivation of fast Na+ channels ⁶⁵ Phase 3 - rapid repolarisation ⁶⁵ Phase 4 - resting membrane potential ⁶⁵ Physiological factors ⁶⁵ Tandem of pore domain in a weak inwardly rectifying K+ channels (TWIK) ⁶⁵ Tandem pore domain halothane-inhibited K+ channel (THIK) ⁶⁵ Tandem pore domain potassium channels ⁶⁵ TWIK related potassium channel (TREK) ⁶⁵ TWIK-related alkaline pH activated K+ channel (TALK) ⁶⁵ TWIK-related spinal cord K+ channel (TRESK) ⁶⁵ TWIK-releated acid-sensitive K+ channel (TASK) ⁶⁵	11.98	TTN TCAP DYSF DMD
2	Striated Muscle Contraction ⁶⁵ ¹	10.66	TTN TCAP DMD

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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	T-tubule	GO:0030315	9.32	DYSF CAPN3
2	myofibril	GO:0030016	9.26	DMD CAPN3
3	sarcolemma	GO:0042383	9.26	MYOT FKRP DYSF DMD
4	I band	GO:0031674	9.16	TTN TCAP
5	Z disc	GO:0030018	9.02	TTN TCAP MYOT DMD CAPN3

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

(show all 16)

#	Name	GO ID	Score	Top Affiliating Genes
1	muscle contraction	GO:0006936	9.65	TTN MYOT DYSF
2	response to calcium ion	GO:0051592	9.56	TTN CAPN3
3	positive regulation of proteolysis	GO:0045862	9.55	TRIM32 CAPN3
4	response to muscle stretch	GO:0035994	9.54	TCAP DMD
5	cardiac muscle tissue morphogenesis	GO:0055008	9.52	TTN TCAP
6	cardiac myofibril assembly	GO:0055003	9.51	TTN TCAP
7	cardiac muscle hypertrophy	GO:0003300	9.49	TTN TCAP
8	cardiac muscle fiber development	GO:0048739	9.46	TTN TCAP
9	detection of muscle stretch	GO:0035995	9.43	TTN TCAP
10	cardiac muscle contraction	GO:0060048	9.43	TTN TCAP DMD
11	skeletal muscle thin filament assembly	GO:0030240	9.4	TTN TCAP
12	sarcomerogenesis	GO:0048769	9.37	TTN TCAP
13	muscle filament sliding	GO:0030049	9.33	TTN TCAP DMD
14	skeletal muscle myosin thick filament assembly	GO:0030241	9.32	TTN TCAP
15	sarcomere organization	GO:0045214	9.13	TTN TCAP CAPN3
16	muscle cell cellular homeostasis	GO:0046716	8.8	TRIM32 DMD CAPN3

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	TTN TRIM32
2	myosin binding	GO:0017022	9.26	TRIM32 DMD
3	titin binding	GO:0031432	9.16	TCAP CAPN3
4	structural constituent of muscle	GO:0008307	9.02	TTN TCAP MYOT DMD CAPN3
5	dystroglycan binding	GO:0002162	8.96	FKRP DMD

Sources

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

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⁷⁰ UMLS

⁷¹ UMLS via Orphanet

⁷² UniProtKB/Swiss-Prot

⁷³ 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:

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Orphanet epidemiological data:

OMIM®:

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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:

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

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

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