Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2q disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

Sources

Aliases & Classifications for Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2q

MalaCards integrated aliases for Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2q:

Name: Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2q ¹¹ ²⁸ ⁵ ¹⁴

Autosomal Recessive Limb-Girdle Muscular Dystrophy Due to Plectin Deficiency ¹¹

Muscular Dystrophy, Limb-Girdle, Type 2q ¹¹

Lgmd2q ¹¹

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Metabolic diseases
Anatomical: Muscle diseases Neuronal diseases Respiratory diseases Cardiovascular diseases Oral diseases Mental diseases

See all MalaCards categories (disease lists)

ICD10: ³¹

Diseases of the nervous system

Diseases of myoneural junction and muscle

Primary disorders of muscles

Muscular dystrophy

External Ids:

Disease Ontology ¹¹ DOID:0110285

ICD10 ³¹ G71.0

Sources

Summaries for Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2q

Disease Ontology: ¹¹ An autosomal recessive limb-girdle muscular dystrophy that has material basis in homozygous mutation in the PLEC1 gene.

MalaCards based summary: Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2q, also known as autosomal recessive limb-girdle muscular dystrophy due to plectin deficiency, is related to muscular dystrophy, limb-girdle, autosomal recessive 17 and epithelial and subepithelial dystrophy, and has symptoms including generalized muscle weakness An important gene associated with Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2q is PLEC (Plectin). Affiliated tissues include lung, and related phenotype is muscle.

Sources

Related Diseases for Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2q

Diseases in the Limb-Girdle Muscular Dystrophy family:

Diseases related to Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2q via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 89)

#	Related Disease	Score	Top Affiliating Genes
1	muscular dystrophy, limb-girdle, autosomal recessive 17	11.6
2	epithelial and subepithelial dystrophy	10.2	SYNC PLEC
3	scapuloperoneal myopathy	10.2	PLEC MYOT
4	myopathy, myofibrillar, 4	10.1	TCAP MYOT
5	creatine phosphokinase, elevated serum	10.1	TCAP GMPPB
6	muscular dystrophy-dystroglycanopathy	10.1	GMPPB FKRP
7	epidermolysis bullosa simplex 5a, ogna type	10.1	SYNM SYNC PLEC
8	epithelial basement membrane dystrophy	10.1	SYNM SYNC PLEC
9	epidermolysis bullosa simplex 5b, with muscular dystrophy	10.1	SYNM SYNC PLEC
10	fatal infantile hypertonic myofibrillar myopathy	10.1	MYOT DNAJB6
11	epidermolysis bullosa simplex 2f, with mottled pigmentation	10.1	SYNM SYNC PLEC
12	myopathy, myofibrillar, 5	10.1	SYNC MYOT
13	muscular dystrophy-dystroglycanopathy , type c, 1	10.0	MYOT FKRP
14	congenital muscular dystrophy with intellectual disability	10.0	GMPPB FKRP
15	myopathy, distal, 4	10.0	SGCA DYSF
16	congenital muscular dystrophy with cerebellar involvement	10.0	GMPPB FKRP
17	muscular dystrophy, congenital, 1b	10.0	GMPPB FKRP
18	myopathy with extrapyramidal signs	10.0	SGCA DYSF
19	muscular dystrophy-dystroglycanopathy , type c, 2	10.0	GMPPB FKRP
20	cardiomyopathy, dilated, 3b	10.0	SGCA DYSF
21	left ventricular noncompaction	10.0	TCAP PLEC MYOT
22	myopathy, spheroid body	10.0	TCAP MYOT DNAJB6
23	myopathy, myofibrillar, 9, with early respiratory failure	10.0	TCAP MYOT DNAJB6
24	muscular dystrophy-dystroglycanopathy , type b, 1	9.9	GMPPB FKRP
25	myopathy, myofibrillar, 2	9.9	SYNC PLEC MYOT DNAJB6
26	muscular dystrophy-dystroglycanopathy , type a, 4	9.9	SGCA GMPPB FKRP
27	muscle eye brain disease	9.9	SGCA GMPPB FKRP
28	myopathy, distal, 1	9.9	MYOT DYSF
29	alexander disease	9.9	SYNM PLEC
30	muscular dystrophy, duchenne type	9.8	TCAP SGCA DYSF
31	muscular dystrophy, limb-girdle, autosomal recessive 8	9.8	TCAP FKRP DYSF
32	miyoshi muscular dystrophy 3	9.8	SGCA FKRP DYSF
33	emery-dreifuss muscular dystrophy 2, autosomal dominant	9.8	SGCA FKRP DYSF
34	glycogen storage disease ii	9.8	MYOT FKRP DYSF
35	ullrich congenital muscular dystrophy 1	9.7	SGCA FKRP DYSF
36	muscular dystrophy-dystroglycanopathy , type c, 14	9.7	TRAPPC11 LIMS2 GMPPB
37	muscular dystrophy-dystroglycanopathy , type c, 9	9.7	TRAPPC11 SGCA LIMS2
38	rippling muscle disease 2	9.7	FKRP DYSF
39	muscular dystrophy, limb-girdle, autosomal recessive 4	9.7	TCAP SGCA FKRP DYSF
40	muscular dystrophy, limb-girdle, autosomal recessive 6	9.7	TCAP SGCA FKRP DYSF
41	muscular dystrophy, becker type	9.7	SYNC SGCA FKRP DYSF
42	autosomal recessive limb-girdle muscular dystrophy type 2f	9.7	TCAP SGCA FKRP DYSF
43	muscular dystrophy-dystroglycanopathy , type c, 3	9.7	TRAPPC11 SGCA GMPPB FKRP
44	congenital muscular dystrophy-dystroglycanopathy type a	9.7	SGCA GMPPB FKRP DYSF
45	muscular disease	9.7	SGCA MYOT FKRP DYSF
46	muscular dystrophy, congenital merosin-deficient, 1a	9.7	SGCA GMPPB FKRP DYSF
47	limb-girdle muscular dystrophy type 1a	9.7	TCAP MYOT FKRP DYSF
48	muscular dystrophy, limb-girdle, autosomal recessive 7	9.7	TCAP MYOT FKRP DYSF
49	muscular dystrophy-dystroglycanopathy , type c, 4	9.7	MYOT GMPPB FKRP DYSF
50	autosomal recessive limb-girdle muscular dystrophy type 2l	9.6	SGCA MYOT FKRP DYSF

Graphical network of the top 20 diseases related to Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2q:

Sources

Symptoms & Phenotypes for Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2q

UMLS symptoms related to Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2q:

generalized muscle weakness

MGI Mouse Phenotypes related to Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2q:

⁴⁵

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	muscle	MP:0005369	9.23	DYSF FKRP LIMS2 PLEC SGCA SYNC

Sources

Drugs & Therapeutics for Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2q

Interventional clinical trials:

#	Name	Status	NCT ID	Phase	Drugs
1	Congenital Muscle Disease Patient and Proxy Reported Outcome Study	Recruiting	NCT01403402

Search NIH Clinical Center for Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2q

Sources

Genetic Tests for Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2q

Genetic tests related to Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2q:

#	Genetic test	Affiliating Genes
1	Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2q ²⁸	PLEC

Sources

Anatomical Context for Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2q

Organs/tissues related to Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2q:

MalaCards : Lung

Sources

Publications for Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2q

Articles related to Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2q:

(show all 27)

#	Title	Authors	PMID	Year
1	Glu20Ter Variant in PLEC 1f Isoform Causes Limb-Girdle Muscle Dystrophy with Lung Injury. ⁶² ⁵	Deev RV...Isaev AA	28824526	2017
2	Exome sequencing has higher diagnostic yield compared to simulated disease-specific panels in children with suspected monogenic disorders. ⁵	Dillon OJ...Tan TY	29453417	2018
3	A novel PLEC nonsense homozygous mutation (c.7159G > T; p.Glu2387*) causes epidermolysis bullosa simplex with muscular dystrophy and diffuse alopecia: a case report. ⁵	Argyropoulou Z...Mota-Vieira L	29352809	2018
4	Multigene Next-Generation Sequencing Panel Identifies Pathogenic Variants in Patients with Unknown Subtype of Epidermolysis Bullosa: Subclassification with Prognostic Implications. ⁵	Vahidnezhad H...Uitto J	28830826	2017
5	Epidermolysis Bullosa with Pyloric Atresia and Significant Urologic Involvement. ⁵	Walker GD...Levy ML	27813154	2017
6	Next-generation sequencing of duplication CNVs reveals that most are tandem and some create fusion genes at breakpoints. ⁵	Newman S...Rudd MK	25640679	2015
7	Epidermolysis bullosa simplex with PLEC mutations: new phenotypes and new mutations. ⁵	Charlesworth A...Meneguzzi G	23289980	2013
8	Epidermolysis bullosa simplex ogna revisited. ⁵	Kiritsi D...Has C	22854623	2013
9	Epidermolysis bullosa with late-onset muscular dystrophy and plectin deficiency. ⁵	Yiu EM...Murrell DF	21674528	2011
10	Mutation in exon 1f of PLEC, leading to disruption of plectin isoform 1f, causes autosomal-recessive limb-girdle muscular dystrophy. ⁵	Gundesli H...Dincer P	21109228	2010
11	Plectin deficiency leads to both muscular dystrophy and pyloric atresia in epidermolysis bullosa simplex. ⁵	Natsuga K...Shimizu H	20665883	2010
12	Epidermolysis bullosa simplex with muscular dystrophy. ⁵	Chiaverini C...Ortonne JP	20447487	2010
13	Plectin gene defects lead to various forms of epidermolysis bullosa simplex. ⁵	Rezniczek GA...Wiche G	19945614	2010
14	Epidermolysis Bullosa with Pyloric Atresia ⁵	Pfendner EG...Lucky AW	20301336	2008
15	Progress in epidermolysis bullosa: the phenotypic spectrum of plectin mutations. ⁵	Pfendner E...Uitto J	15810881	2005
16	Plectin deficient epidermolysis bullosa simplex with 27-year-history of muscular dystrophy. ⁵	Takahashi Y...Hashimoto T	15659326	2005
17	Plectin gene mutations can cause epidermolysis bullosa with pyloric atresia. ⁵	Pfendner E...Uitto J	15654962	2005
18	A site-specific plectin mutation causes dominant epidermolysis bullosa simplex Ogna: two identical de novo mutations. ⁵	Koss-Harnes D...Gedde-Dahl T	11851880	2002
19	Epidermolysis bullosa: novel and de novo premature termination codon and deletion mutations in the plectin gene predict late-onset muscular dystrophy. ⁵	Rouan F...Uitto J	10652002	2000
20	Homozygous deletion mutations in the plectin gene (PLEC1) in patients with epidermolysis bullosa simplex associated with late-onset muscular dystrophy. ⁵	Pulkkinen L...Uitto J	8894687	1996
21	Basic amino acid residue cluster within nuclear targeting sequence motif is essential for cytoplasmic plectin-vimentin network junctions. ⁵	Nikolic B...Wiche G	8830774	1996
22	Clinical, pathological, imaging, and genetic characterization in a Taiwanese cohort with limb-girdle muscular dystrophy. ⁶²	Liang WC...Wong LC	32576226	2020
23	[Research advances in limb-girdle muscular dystrophy type 2Q]. ⁶²	Zhang M...Lan D	31416513	2019
24	Novel compound heterozygous PLEC mutations lead to early‑onset limb‑girdle muscular dystrophy 2Q. ⁶²	Zhong J...Lan D	28447722	2017
25	Report of a patient with limb-girdle muscular dystrophy, ptosis and ophthalmoparesis caused by plectinopathy. ⁶²	Fattahi Z...Najmabadi H	25556389	2015
26	A defect in the RNA-processing protein HNRPDL causes limb-girdle muscular dystrophy 1G (LGMD1G). ⁶²	Vieira NM...Zatz M	24647604	2014
27	Genetic basis of limb-girdle muscular dystrophies: the 2014 update. ⁶²	Nigro V...Savarese M	24843229	2014

Sources

Genes for Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2q

Genes related to Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2q (1 elite genes):

(show all 14)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	PLEC	Plectin	Protein Coding	532.54	Pathogenic ⁵ Genetic Tests ²⁸ Likely pathogenic ⁵ DISEASES inferred ¹⁴	8830774 8894687 10652002 (more) 11851880 15654962 15659326 15810881 19945614 20301336 20447487 20665883 21109228 21674528 22854623 23289980 27813154 28824526 28830826 29352809 29453417 25640679
2	SYNC	Syncoilin, Intermediate Filament Protein	Protein Coding	6.21	DISEASES inferred ¹⁴
3	GMPPB	GDP-Mannose Pyrophosphorylase B	Protein Coding	6.14	DISEASES inferred ¹⁴
4	TCAP	Titin-Cap	Protein Coding	5.96	DISEASES inferred ¹⁴
5	SGCA	Sarcoglycan Alpha	Protein Coding	5.91	DISEASES inferred ¹⁴
6	MYOT	Myotilin	Protein Coding	5.83	DISEASES inferred ¹⁴
7	SYNM	Synemin	Protein Coding	5.76	DISEASES inferred ¹⁴
8	LINC01142	Long Intergenic Non-Protein Coding RNA 1142	RNA Gene	5.71	DISEASES inferred ¹⁴
9	TNPO3	Transportin 3	Protein Coding	5.57	DISEASES inferred ¹⁴
10	DNAJB6	DnaJ Heat Shock Protein Family (Hsp40) Member B6	Protein Coding	5.52	DISEASES inferred ¹⁴
11	DYSF	Dysferlin	Protein Coding	5.48	DISEASES inferred ¹⁴
12	FKRP	Fukutin Related Protein	Protein Coding	5.37	DISEASES inferred ¹⁴
13	LIMS2	LIM Zinc Finger Domain Containing 2	Protein Coding	5.34	DISEASES inferred ¹⁴
14	TRAPPC11	Trafficking Protein Particle Complex Subunit 11	Protein Coding	5.33	DISEASES inferred ¹⁴

Sources

Variations for Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2q

ClinVar genetic disease variations for Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2q:

⁵ (show top 50) (show all 3516)

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	Position
1	overlap with 54 genes	NC_000008.10:g.(?_144295143)_(145701139_?)del	DEL	Pathogenic	1454990		GRCh37: 8:144295143-145701139 GRCh38:
2	PLEC	NM_201384.3(PLEC):c.7504_7507del (p.Leu2502fs)	DEL	Pathogenic	538947	rs1554689309	GRCh37: 8:144996482-144996485 GRCh38: 8:143922314-143922317
3	PLEC	NM_201384.3(PLEC):c.8080_8084dup (p.Ser2696fs)	DUP	Pathogenic	840189	rs1186518181	GRCh37: 8:144995904-144995905 GRCh38: 8:143921736-143921737
4	PLEC	NM_201384.3(PLEC):c.12418C>T (p.Arg4140Ter)	SNV	Pathogenic	1069886		GRCh37: 8:144991571-144991571 GRCh38: 8:143917403-143917403
5	PLEC	NM_201384.3(PLEC):c.7336G>T (p.Glu2446Ter)	SNV	Pathogenic	1071954		GRCh37: 8:144996761-144996761 GRCh38: 8:143922593-143922593
6	PLEC	NM_201384.3(PLEC):c.13106C>A (p.Ser4369Ter)	SNV	Pathogenic	1073588		GRCh37: 8:144990883-144990883 GRCh38: 8:143916715-143916715
7	PLEC	NM_201384.3(PLEC):c.6510del (p.His2170fs)	DEL	Pathogenic	1074096		GRCh37: 8:144997587-144997587 GRCh38: 8:143923419-143923419
8	PLEC	NM_201384.3(PLEC):c.6874C>T (p.Arg2292Ter)	SNV	Pathogenic	30174	rs387906802	GRCh37: 8:144997223-144997223 GRCh38: 8:143923055-143923055
9	PLEC	NM_201384.3(PLEC):c.9004C>T (p.Arg3002Ter)	SNV	Pathogenic	8266	rs137853161	GRCh37: 8:144994985-144994985 GRCh38: 8:143920817-143920817
10	PLEC	NM_201384.3(PLEC):c.6910C>T (p.Gln2304Ter)	SNV	Pathogenic	620547	rs782107643	GRCh37: 8:144997187-144997187 GRCh38: 8:143923019-143923019
11	PLEC	NM_201384.3(PLEC):c.8149C>T (p.Gln2717Ter)	SNV	Pathogenic Likely Pathogenic	1251952		GRCh37: 8:144995840-144995840 GRCh38: 8:143921672-143921672
12	PLEC	NM_201384.3(PLEC):c.2551del (p.Val851fs)	DEL	Pathogenic	1385604		GRCh37: 8:145004373-145004373 GRCh38: 8:143930205-143930205
13	PLEC	NM_201384.3(PLEC):c.2503C>T (p.Gln835Ter)	SNV	Pathogenic	1427195		GRCh37: 8:145004421-145004421 GRCh38: 8:143930253-143930253
14	PLEC	NM_201384.3(PLEC):c.10573C>T (p.Gln3525Ter)	SNV	Pathogenic	1453848		GRCh37: 8:144993416-144993416 GRCh38: 8:143919248-143919248
15	PLEC	NM_201384.3(PLEC):c.12926dup (p.Arg4310fs)	DUP	Pathogenic	1454360		GRCh37: 8:144991062-144991063 GRCh38: 8:143916894-143916895
16	PLEC	NM_201384.3(PLEC):c.6664C>T (p.Gln2222Ter)	SNV	Pathogenic	1455035		GRCh37: 8:144997433-144997433 GRCh38: 8:143923265-143923265
17	PLEC	NM_201384.3(PLEC):c.5170C>T (p.Gln1724Ter)	SNV	Pathogenic	1459260		GRCh37: 8:144998927-144998927 GRCh38: 8:143924759-143924759
18	PLEC	NM_201384.3(PLEC):c.4468C>T (p.Arg1490Ter)	SNV	Pathogenic	1324937		GRCh37: 8:144999629-144999629 GRCh38: 8:143925461-143925461
19	PLEC	NM_201384.3(PLEC):c.9558_9559del (p.Glu3188fs)	DEL	Pathogenic	501798	rs1554681167	GRCh37: 8:144994430-144994431 GRCh38: 8:143920262-143920263
20	PLEC	NM_201384.3(PLEC):c.5917C>T (p.Arg1973Trp)	SNV	Pathogenic	8262	rs80338756	GRCh37: 8:144998180-144998180 GRCh38: 8:143924012-143924012
21	PLEC	NM_201384.3(PLEC):c.7078G>T (p.Glu2360Ter)	SNV	Pathogenic	1455166		GRCh37: 8:144997019-144997019 GRCh38: 8:143922851-143922851
22	PLEC	NM_201384.3(PLEC):c.4606C>T (p.Gln1536Ter)	SNV	Pathogenic	1459261		GRCh37: 8:144999491-144999491 GRCh38: 8:143925323-143925323
23	PLEC	NM_201378.4(PLEC):c.1_9del (p.Met1_Gly3del)	DEL	Pathogenic	30171	rs864309673	GRCh37: 8:145047632-145047640 GRCh38: 8:143973464-143973472
24	PLEC	NM_201384.3(PLEC):c.9022C>T (p.Arg3008Ter)	SNV	Pathogenic	1456758		GRCh37: 8:144994967-144994967 GRCh38: 8:143920799-143920799
25	PLEC	NM_201384.3(PLEC):c.3874C>T (p.Gln1292Ter)	SNV	Pathogenic	1456815		GRCh37: 8:145001216-145001216 GRCh38: 8:143927048-143927048
26	PLEC	NM_201384.3(PLEC):c.2587CAGGAGGCC[1] (p.863QEA[1])	MICROSAT	Pathogenic	8259	rs786205252	GRCh37: 8:145004320-145004328 GRCh38: 8:143930152-143930160
27	PLEC	NM_000445.5(PLEC):c.106_119dup (p.Gly44fs)	DUP	Pathogenic	1396569		GRCh37: 8:145049418-145049419 GRCh38: 8:143975250-143975251
28	PLEC	NM_201378.4(PLEC):c.66C>G (p.Tyr22Ter)	SNV	Likely Pathogenic Likely Benign	1251951		GRCh37: 8:145047575-145047575 GRCh38: 8:143973407-143973407
29	PLEC	NM_201384.3(PLEC):c.3261-1G>A	SNV	Likely Pathogenic	577780	rs111730406	GRCh37: 8:145002161-145002161 GRCh38: 8:143927993-143927993
30	PLEC	NM_201384.3(PLEC):c.11350C>T (p.Gln3784Ter)	SNV	Likely Pathogenic	538961	rs1554675388	GRCh37: 8:144992639-144992639 GRCh38: 8:143918471-143918471
31	PLEC	NM_201384.3(PLEC):c.1060C>T (p.Gln354Ter)	SNV	Likely Pathogenic	417887	rs1060499581	GRCh37: 8:145008595-145008595 GRCh38: 8:143934427-143934427
32	PLEC	NM_201384.3(PLEC):c.9000_9001delinsTT (p.Gln3001Ter)	INDEL	Likely Pathogenic	499702	rs1554683108	GRCh37: 8:144994988-144994989 GRCh38: 8:143920820-143920821
33	PLEC	NC_000008.10:g.(?_145008466)_(145012880_?)dup	DUP	Likely Pathogenic	1510440		GRCh37: 8:145008466-145012880 GRCh38:
34	PLEC and overlap with 1 gene(s)	NC_000008.10:g.(?_145008783)_(145018851_?)dup	DUP	Likely Pathogenic	658433		GRCh37: 8:145008783-145018851 GRCh38: 8:143934615-143944683
35	PLEC	NM_201384.3(PLEC):c.2613-7C>T	SNV	Uncertain Significance	659532	rs11990994	GRCh37: 8:145004237-145004237 GRCh38: 8:143930069-143930069
36	PLEC	NM_201384.3(PLEC):c.11006G>A (p.Gly3669Asp)	SNV	Uncertain Significance	538994	rs1554676292	GRCh37: 8:144992983-144992983 GRCh38: 8:143918815-143918815
37	PLEC	NM_201384.3(PLEC):c.5883C>T (p.Ser1961=)	SNV	Uncertain Significance	658078	rs1554695457	GRCh37: 8:144998214-144998214 GRCh38: 8:143924046-143924046
38	PLEC	NM_201384.3(PLEC):c.602+4C>G	SNV	Uncertain Significance	658112	rs1587163504	GRCh37: 8:145010012-145010012 GRCh38: 8:143935844-143935844
39	PLEC	NM_201384.3(PLEC):c.9874G>A (p.Val3292Met)	SNV	Uncertain Significance	471680	rs782650325	GRCh37: 8:144994115-144994115 GRCh38: 8:143919947-143919947
40	PLEC	NM_201384.3(PLEC):c.5727G>T (p.Gln1909His)	SNV	Uncertain Significance	658853	rs1586904636	GRCh37: 8:144998370-144998370 GRCh38: 8:143924202-143924202
41	PLEC	NM_201384.3(PLEC):c.7822G>A (p.Ala2608Thr)	SNV	Uncertain Significance	196858	rs199995144	GRCh37: 8:144996167-144996167 GRCh38: 8:143921999-143921999
42	PLEC	NM_201384.3(PLEC):c.13201G>A (p.Asp4401Asn)	SNV	Uncertain Significance	497165	rs782439392	GRCh37: 8:144990788-144990788 GRCh38: 8:143916620-143916620
43	PLEC	NM_201384.3(PLEC):c.7313G>A (p.Arg2438Gln)	SNV	Uncertain Significance	471642	rs781835780	GRCh37: 8:144996784-144996784 GRCh38: 8:143922616-143922616
44	PLEC	NM_201384.3(PLEC):c.13498G>A (p.Gly4500Ser)	SNV	Uncertain Significance	659257	rs567240737	GRCh37: 8:144990491-144990491 GRCh38: 8:143916323-143916323
45	PLEC	NM_201384.3(PLEC):c.5863G>A (p.Ala1955Thr)	SNV	Uncertain Significance	597551	rs200374705	GRCh37: 8:144998234-144998234 GRCh38: 8:143924066-143924066
46	PLEC	NM_201384.3(PLEC):c.11926G>A (p.Val3976Ile)	SNV	Uncertain Significance	471525	rs782422260	GRCh37: 8:144992063-144992063 GRCh38: 8:143917895-143917895
47	PLEC	NM_201384.3(PLEC):c.6632G>A (p.Arg2211Gln)	SNV	Uncertain Significance	655482	rs782310253	GRCh37: 8:144997465-144997465 GRCh38: 8:143923297-143923297
48	PLEC	NM_201384.3(PLEC):c.8371G>A (p.Ala2791Thr)	SNV	Uncertain Significance	471661	rs529109624	GRCh37: 8:144995618-144995618 GRCh38: 8:143921450-143921450
49	PLEC	NM_201384.3(PLEC):c.7106A>C (p.Glu2369Ala)	SNV	Uncertain Significance	655574	rs565837184	GRCh37: 8:144996991-144996991 GRCh38: 8:143922823-143922823
50	PLEC	NM_201384.3(PLEC):c.4640A>C (p.Glu1547Ala)	SNV	Uncertain Significance	655807	rs1554701799	GRCh37: 8:144999457-144999457 GRCh38: 8:143925289-143925289

Sources

Expression for Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2q

Search GEO for disease gene expression data for Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2q.

Sources

Pathways for Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2q

Sources

GO Terms for Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2q

Cellular components related to Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2q according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	Z disc	GO:0030018	9.65	TCAP SYNC PLEC MYOT DNAJB6
2	sarcolemma	GO:0042383	9.47	SYNM SYNC SGCA PLEC MYOT FKRP
3	costamere	GO:0043034	9.46	SYNM PLEC

Biological processes related to Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2q according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	intermediate filament cytoskeleton organization	GO:0045104	9.26	SYNM PLEC
2	cardiac muscle cell development	GO:0055013	8.92	TCAP PLEC

Molecular functions related to Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2q according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	dystroglycan binding	GO:0002162	9.26	PLEC FKRP
2	structural constituent of muscle	GO:0008307	9.23	TCAP SYNM PLEC MYOT

Sources

Sources for Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2q

¹ BitterDB

² CDC

³ Cell Signaling Technology

⁴ ClinicalTrials

⁵ ClinVar

⁶ CNVD

⁷ Cochrane Library

⁸ Cosmic

⁹ dbSNP

¹⁰ DGIdb

¹¹ Disease Ontology

¹² diseasecard

¹³ DiseaseEnhancer

¹⁴ DISEASES

¹⁵ DrugBank

¹⁶ EFO

¹⁷ ExPASy

¹⁸ FMA

¹⁹ GARD

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ GenomeRNAi

²⁶ GEO DataSets

²⁷ GO

²⁸ GTR

²⁹ HMDB

³⁰ HPO

³¹ ICD10

³² ICD10 via Orphanet

³³ ICD11

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ LifeMap

³⁷ LncRNADisease

³⁸ LOVD

³⁹ MalaCards

⁴⁰ MedGen

⁴¹ MedlinePlus

⁴² MedlinePlus Genetics

⁴³ MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

⁴⁸ NCI

⁴⁹ NCIt

⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NINDS

⁵³ Novoseek

⁵⁴ Novus Biologicals

⁵⁵ ODiseA

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 08-Dec-2022)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubChem

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ WikiPathways

⁷⁵ Wikipedia

MCID: ATS211 MIFTS: 36	Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2q Categories: Cardiovascular diseases, Genetic diseases, Mental diseases, Metabolic diseases, Muscle diseases, Neuronal diseases, Oral diseases, Rare diseases, Respiratory diseases	Data Licensing For inquiries, contact: [email protected]
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes Expand all tables