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
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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:



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Disease Ontology 11 DOID:0110285
ICD10 31 G71.0

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.

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

Diseases in the Limb-Girdle Muscular Dystrophy family:

Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 6 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3 Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10 Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 12 Muscular Dystrophy, Limb-Girdle, Type 1h
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 17 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 21
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2z Autosomal Dominant Limb-Girdle Muscular Dystrophy
Autosomal Recessive Limb-Girdle Muscular Dystrophy Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2a
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2b Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2c
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2d Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2f
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2g Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2h
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2j Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2l
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2q Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2w
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2x Limb-Girdle Muscular Dystrophy Type 1a
Limb-Girdle Muscular Dystrophy Type 1b Pomgnt2-Related Limb-Girdle Muscular Dystrophy R24

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:



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

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

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

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

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

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
28824526 2017
2
Exome sequencing has higher diagnostic yield compared to simulated disease-specific panels in children with suspected monogenic disorders. 5
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
29352809 2018
4
Multigene Next-Generation Sequencing Panel Identifies Pathogenic Variants in Patients with Unknown Subtype of Epidermolysis Bullosa: Subclassification with Prognostic Implications. 5
28830826 2017
5
Epidermolysis Bullosa with Pyloric Atresia and Significant Urologic Involvement. 5
27813154 2017
6
Next-generation sequencing of duplication CNVs reveals that most are tandem and some create fusion genes at breakpoints. 5
25640679 2015
7
Epidermolysis bullosa simplex with PLEC mutations: new phenotypes and new mutations. 5
23289980 2013
8
Epidermolysis bullosa simplex ogna revisited. 5
22854623 2013
9
Epidermolysis bullosa with late-onset muscular dystrophy and plectin deficiency. 5
21674528 2011
10
Mutation in exon 1f of PLEC, leading to disruption of plectin isoform 1f, causes autosomal-recessive limb-girdle muscular dystrophy. 5
21109228 2010
11
Plectin deficiency leads to both muscular dystrophy and pyloric atresia in epidermolysis bullosa simplex. 5
20665883 2010
12
Epidermolysis bullosa simplex with muscular dystrophy. 5
20447487 2010
13
Plectin gene defects lead to various forms of epidermolysis bullosa simplex. 5
19945614 2010
14
Epidermolysis Bullosa with Pyloric Atresia 5
20301336 2008
15
Progress in epidermolysis bullosa: the phenotypic spectrum of plectin mutations. 5
15810881 2005
16
Plectin deficient epidermolysis bullosa simplex with 27-year-history of muscular dystrophy. 5
15659326 2005
17
Plectin gene mutations can cause epidermolysis bullosa with pyloric atresia. 5
15654962 2005
18
A site-specific plectin mutation causes dominant epidermolysis bullosa simplex Ogna: two identical de novo mutations. 5
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
10652002 2000
20
Homozygous deletion mutations in the plectin gene (PLEC1) in patients with epidermolysis bullosa simplex associated with late-onset muscular dystrophy. 5
8894687 1996
21
Basic amino acid residue cluster within nuclear targeting sequence motif is essential for cytoplasmic plectin-vimentin network junctions. 5
8830774 1996
22
Clinical, pathological, imaging, and genetic characterization in a Taiwanese cohort with limb-girdle muscular dystrophy. 62
32576226 2020
23
[Research advances in limb-girdle muscular dystrophy type 2Q]. 62
31416513 2019
24
Novel compound heterozygous PLEC mutations lead to early‑onset limb‑girdle muscular dystrophy 2Q. 62
28447722 2017
25
Report of a patient with limb-girdle muscular dystrophy, ptosis and ophthalmoparesis caused by plectinopathy. 62
25556389 2015
26
A defect in the RNA-processing protein HNRPDL causes limb-girdle muscular dystrophy 1G (LGMD1G). 62
24647604 2014
27
Genetic basis of limb-girdle muscular dystrophies: the 2014 update. 62
24843229 2014

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

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.

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

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 for Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2q

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
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