DMDA2
MCID: ATS277
MIFTS: 43

Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2d (DMDA2)

Categories: Genetic diseases, Metabolic diseases, Muscle diseases, Neuronal diseases, Rare diseases, Respiratory diseases

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

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

Name: Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2d 12 29 6 15
Duchenne-Like Autosomal Recessive Muscular Dystrophy Type 2 12
Muscular Dystrophy, Limb-Girdle, Type 2d 12
Alpha-Sarcoglycanopathy 12
Primary Adhalinopathy 12
Lgmd2d 12
Dmda2 12

Classifications:



External Ids:

Disease Ontology 12 DOID:0110278
ICD10 32 G71.0

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

Disease Ontology : 12 An autosomal recessive limb-girdle muscular dystrophy that has material basis in homozygous or compound heterozygous mutation in the alpha-sarcoglycan gene (SGCA) on chromosome 17q.

MalaCards based summary : Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2d, also known as duchenne-like autosomal recessive muscular dystrophy type 2, is related to muscular dystrophy, limb-girdle, autosomal recessive 3 and dystrophinopathies. An important gene associated with Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2d is SGCA (Sarcoglycan Alpha), and among its related pathways/superpathways are Allograft rejection and Dilated cardiomyopathy. Affiliated tissues include skeletal muscle, and related phenotypes are Decreased viability and Decreased viability

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

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 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
Limb-Girdle Muscular Dystrophy Type 1c Pomgnt2-Related Limb-Girdle Muscular Dystrophy R24

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

(show top 50) (show all 129)
# Related Disease Score Top Affiliating Genes
1 muscular dystrophy, limb-girdle, autosomal recessive 3 32.9 TUBA1A SGCA
2 dystrophinopathies 30.4 UTRN DMD
3 muscular dystrophy, limb-girdle, autosomal recessive 4 29.8 TCAP SGCB SGCA FKRP DYSF CAPN3
4 muscular dystrophy, limb-girdle, autosomal recessive 6 29.3 TCAP SGCG SGCD SGCB SGCA FKRP
5 muscular dystrophy, duchenne type 28.3 UTRN TCAP SGCD SGCB SGCA LAMA2
6 limb-girdle muscular dystrophy 27.9 TCAP SGCG SGCD SGCB SGCA MYOT
7 autosomal recessive limb-girdle muscular dystrophy type 2c 27.8 TCAP SSPN SGCG SGCD SGCB SGCA
8 bethlem myopathy 1 27.1 SSPN SGCG SGCD SGCA MYOT LMNA
9 myopathy 26.7 UTRN TCAP SGCG SGCD SGCB SGCA
10 muscular dystrophy, congenital, lmna-related 26.6 TCAP SSPN SGCB MYOT LMNA LAMA2
11 muscular dystrophy 26.3 UTRN TCAP SSPN SGCG SGCE SGCD
12 autosomal recessive limb-girdle muscular dystrophy 25.7 UTRN TUBA1A TCAP SSPN SGCG SGCE
13 progressive muscular dystrophy 10.3 SGCA DMD
14 paresthesia 10.3 FKRP CAPN3
15 localized lipodystrophy 10.3 DYSF DMD
16 mcleod syndrome 10.3 SGCA DMD
17 foot drop 10.3 MYOT DYSF
18 congenital muscular dystrophy-dystroglycanopathy type a5 10.3 FKRP DAG1
19 cytoplasmic body myopathy 10.3 UTRN DMD
20 autosomal dominant distal myopathy 10.3 MYOT DMD
21 dysferlinopathy 10.3 SGCA DYSF CAPN3
22 congenital muscular dystrophy-dystroglycanopathy a14 10.2 LAMA2 DAG1
23 qualitative or quantitative defects of sarcoglycan 10.2
24 polyglucosan body myopathy 1 with or without immunodeficiency 10.2 FKRP DMD CAPN3
25 muscular dystrophy-dystroglycanopathy , type c, 9 10.2 SGCB MYOT DAG1
26 muscular dystrophy, limb-girdle, type 1h 10.2 MYOT CAV3
27 muscular dystrophy, limb-girdle, autosomal recessive 5 10.2
28 cardiomyopathy, dilated, 1d 10.1 LAMA2 FKRP DAG1
29 maternal uniparental disomy 10.1 SGCE SGCB
30 myoglobinuria 10.1
31 muscular dystrophy, limb-girdle, autosomal dominant 3 10.1 MYOT CAV3
32 myopathy, myofibrillar, 9, with early respiratory failure 10.1 TCAP MYOT CAPN3
33 limb-girdle muscular dystrophy type 1c 10.1 FKRP DYSF CAV3
34 muscular dystrophy-dystroglycanopathy , type c, 14 10.1 DAG1 ANO5
35 miyoshi muscular dystrophy 3 10.1 DYSF CAPN3 ANO5
36 autosomal recessive limb-girdle muscular dystrophy type 2w 10.1 SGCB MYOT ANO5
37 rippling muscle disease 2 10.1 SSPN DYSF CAV3
38 myopathy, spheroid body 10.1 TCAP MYOT
39 muscular dystrophy, limb-girdle, autosomal recessive 8 10.0 TCAP FKRP DYSF CAPN3
40 centronuclear myopathy 10.0 DYSF DMD CAV3
41 x-linked monogenic disease 10.0 UTRN SGCA DMD DAG1
42 congenital muscular dystrophy without intellectual disability 10.0 FKTN FKRP
43 limb-girdle muscular dystrophy type 1b 10.0 LMNA CAV3
44 muscular dystrophy, limb-girdle, autosomal dominant 1 10.0 MYOT DYSF CAV3 CAPN3
45 muscular dystrophy, limb-girdle, autosomal recessive 1 10.0
46 metabolic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration 10.0
47 encephalopathy, progressive, early-onset, with episodic rhabdomyolysis 10.0
48 cardiomyopathy, dilated, 1x 10.0 FKTN DAG1
49 congenital muscular dystrophy-dystroglycanopathy a7 9.9 FKTN FKRP
50 myositis 9.9 DYSF DMD CAPN3

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



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

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

GenomeRNAi Phenotypes related to Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2d according to GeneCards Suite gene sharing:

26 (show all 11)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00055-A-1 10.03 CAPN3
2 Decreased viability GR00055-A-2 10.03 CAPN3
3 Decreased viability GR00055-A-3 10.03 CAPN3
4 Decreased viability GR00221-A-4 10.03 DYSF
5 Decreased viability GR00240-S-1 10.03 LMNA TCAP
6 Decreased viability GR00249-S 10.03 DAG1 FKTN LMNA SGCA SGCE TCAP
7 Decreased viability GR00301-A 10.03 DYSF
8 Decreased viability GR00381-A-1 10.03 FKRP LAMA2 SGCA
9 Decreased viability GR00386-A-1 10.03 DAG1 LMNA TUBA1A
10 Decreased viability GR00402-S-2 10.03 DMD SGCA SGCB TCAP
11 Increased gamma-H2AX phosphorylation GR00053-A 9.23 ANO5 DMD DYSF LAMA2 LMNA SGCA

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

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.28 ANO5 DAG1 DMD DYSF FKRP FKTN
2 cardiovascular system MP:0005385 10.28 ANO5 CAPN3 CAV3 DAG1 DMD FKRP
3 homeostasis/metabolism MP:0005376 10.21 ANO5 CAPN3 CAV3 DAG1 DMD DYSF
4 growth/size/body region MP:0005378 10.2 ANO5 CAPN3 CAV3 DAG1 DMD FKRP
5 cellular MP:0005384 10.15 ANO5 CAV3 DAG1 DMD FKRP FKTN
6 immune system MP:0005387 9.93 ANO5 CAV3 DMD DYSF FKRP FKTN
7 muscle MP:0005369 9.91 ANO5 CAPN3 CAV3 DAG1 DMD DYSF
8 skeleton MP:0005390 9.28 ANO5 DMD FKRP LAMA2 LMNA SGCG

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

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Phase I/IIa Gene Transfer Clinical Trial for LGMD2D (Alpha-sarcoglycan Deficiency) Using scAAVrh74.tMCK.hSGCA Completed NCT01976091 Phase 1, Phase 2 scAAVrh74.tMCK.hSGCA
2 Phase I Gene Transfer of rAAV1.tMCK.Human-alpha-sarcoglycan for Limb Girdle Muscular Dystrophy Type 2D (LGMD2D) Completed NCT00494195 Phase 1
3 Journey: A Global, Multicenter, Longitudinal Study of the Natural History of Subjects With Limb Girdle Muscular Dystrophy (LGMD) Type 2E (LGMD2E/R4), Type 2D (LGMD2D/R3), and Type 2C (LGMD2C/R5) Recruiting NCT04475926

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

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

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

# Genetic test Affiliating Genes
1 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2d 29 SGCA

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

MalaCards organs/tissues related to Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2d:

40
Skeletal Muscle

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

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

(show top 50) (show all 62)
# Title Authors PMID Year
1
Primary adhalinopathy (alpha-sarcoglycanopathy): clinical, pathologic, and genetic correlation in 20 patients with autosomal recessive muscular dystrophy. 61 6
9153448 1997
2
Primary adhalinopathy: a common cause of autosomal recessive muscular dystrophy of variable severity. 61 6
7663524 1995
3
Autosomal recessive limb-girdle and Miyoshi muscular dystrophies in the Netherlands: The clinical and molecular spectrum of 244 patients. 6
30919934 2019
4
Clinical and genetic spectrum of sarcoglycanopathies in a large cohort of Chinese patients. 6
30764848 2019
5
[Variant analysis for a pedigree affected with limb-girdle muscular dystrophy type 2D]. 6
30703231 2019
6
Impact of PYROXD1 deficiency on cellular respiration and correlations with genetic analyses of limb-girdle muscular dystrophy in Saudi Arabia and Sudan. 6
30345904 2018
7
The clinical spectrum and genetic variability of limb-girdle muscular dystrophy in a cohort of Chinese patients. 6
30107846 2018
8
Repairing folding-defective α-sarcoglycan mutants by CFTR correctors, a potential therapy for limb-girdle muscular dystrophy 2D. 6
29351619 2018
9
Mutational spectrum of Chinese LGMD patients by targeted next-generation sequencing. 6
28403181 2017
10
Homozygous nonsense mutation in SGCA is a common cause of limb-girdle muscular dystrophy in Assiut, Egypt. 6
26934379 2016
11
Precise Correction of Disease Mutations in Induced Pluripotent Stem Cells Derived From Patients With Limb Girdle Muscular Dystrophy. 6
26916285 2016
12
Probable high prevalence of limb-girdle muscular dystrophy type 2D in Taiwan. 6
26944168 2016
13
Natural History of Cardiac and Respiratory Involvement, Prognosis and Predictive Factors for Long-Term Survival in Adult Patients with Limb Girdle Muscular Dystrophies Type 2C and 2D. 6
27120200 2016
14
Alpha-sarcoglycanopathy presenting as exercise intolerance and rhabdomyolysis in two adults. 6
26453141 2015
15
ISPD mutations account for a small proportion of Italian Limb Girdle Muscular Dystrophy cases. 6
26404900 2015
16
Left ventricular function in alpha-sarcoglycanopathy and gamma-sarcoglycanopathy. 6
24464767 2014
17
Exome sequencing as a second-tier diagnostic approach for clinically suspected dysferlinopathy patients. 6
25046369 2014
18
MotorPlex provides accurate variant detection across large muscle genes both in single myopathic patients and in pools of DNA samples. 6
25214167 2014
19
Autosomal recessive limb-girdle muscular dystrophies in the Czech Republic. 6
25135358 2014
20
Unveiling the degradative route of the V247M α-sarcoglycan mutant responsible for LGMD-2D. 6
24565866 2014
21
Sarcolemmal alpha and gamma sarcoglycan protein deficiencies in Turkish siblings with a novel missense mutation in the alpha sarcoglycan gene. 6
24742800 2014
22
Rescue of sarcoglycan mutations by inhibition of endoplasmic reticulum quality control is associated with minimal structural modifications. 6
22095924 2012
23
Founder mutation for α-sarcoglycan-LGMD2D in a Magdalen Islands Acadian cluster. 6
21856579 2011
24
The first case of primary alpha-sarcoglycanopathy identified in Albania, in two siblings with homozygous alpha-sarcoglycan mutation. 6
22303798 2011
25
Limb-girdle muscular dystrophy type 2D gene therapy restores alpha-sarcoglycan and associated proteins. 6
19798725 2009
26
Sarcoglycanopathies: can muscle immunoanalysis predict the genotype? 6
18996010 2008
27
Revised spectrum of mutations in sarcoglycanopathies. 6
18285821 2008
28
Inhibition of proteasome activity promotes the correct localization of disease-causing alpha-sarcoglycan mutants in HEK-293 cells constitutively expressing beta-, gamma-, and delta-sarcoglycan. 6
18535179 2008
29
Mannosidase I inhibition rescues the human alpha-sarcoglycan R77C recurrent mutation. 6
18252745 2008
30
Clinical, molecular, and protein correlations in a large sample of genetically diagnosed Italian limb girdle muscular dystrophy patients. 6
17994539 2008
31
Alpha vs. gamma sarcoglycanopathy: DNA tests solve a case from Argentina. 6
18421900 2007
32
Limb-girdle muscular dystrophy in the Netherlands: gene defect identified in half the families. 6
17562833 2007
33
Alpha-sarcoglycan is recycled from the plasma membrane in the absence of sarcoglycan complex assembly. 6
16787395 2006
34
Sarcoglycanopathies: a multiplex molecular analysis for the most common mutations. 6
16778590 2006
35
Genetic heterogeneity within a consanguineous family involving the LGMD 2D and the LGMD 2C genes. 6
16616845 2006
36
Splicing in action: assessing disease causing sequence changes. 6
16199547 2005
37
Proteolysis of beta-dystroglycan in muscular diseases. 6
15833425 2005
38
Enrichment of the R77C alpha-sarcoglycan gene mutation in Finnish LGMD2D patients. 6
15736300 2005
39
Respiratory insufficiency as a presenting symptom of LGMD2D in adulthood. 6
15298081 2004
40
On symptomatic heterozygous alpha-sarcoglycan gene mutation carriers. 6
14595658 2003
41
Novel sarcoglycan gene mutations in a large cohort of Italian patients. 6
12746421 2003
42
Genotype-phenotype correlations in 35 Brazilian families with sarcoglycanopathies including the description of three novel mutations. 6
12566530 2003
43
Alpha-sarcoglycan deficiency featuring exercise intolerance and myoglobinuria. 6
12075495 2002
44
Alpha-sarcoglycanopathy previously misdiagnosed as Duchenne muscular dystrophy: implications for current diagnostics and patient care. 6
11475588 2001
45
Molecular diagnosis and counseling in a family presenting compound heterozygosity for autosomal recessive limb-girdle muscular dystrophy. 6
11693784 2001
46
Expression profiling in the muscular dystrophies: identification of novel aspects of molecular pathophysiology. 6
11121445 2000
47
Sarcoglycanopathies in Dutch patients with autosomal recessive limb girdle muscular dystrophy. 6
10993494 2000
48
Partial alpha-sarcoglycan deficiency with retention of the dystrophin-glycoprotein complex in a LGMD2D family. 6
10842281 2000
49
Homozygous alpha-sarcoglycan mutation in two siblings: one asymptomatic and one steroid-responsive mild limb-girdle muscular dystrophy patient. 6
9585331 1998
50
New missense mutation in the alpha-sarcoglycan gene in a Japanese patient with severe childhood autosomal recessive muscular dystrophy with incomplete alpha-sarcoglycan deficiency. 6
9455986 1997

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

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

6 (show top 50) (show all 189)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SGCA NM_000023.4(SGCA):c.402C>G (p.Tyr134Ter) SNV Pathogenic 284945 rs780264754 GRCh37: 17:48245751-48245751
GRCh38: 17:50168390-50168390
2 SGCA NM_000023.4(SGCA):c.524T>C (p.Val175Ala) SNV Pathogenic 9436 rs137852622 GRCh37: 17:48245873-48245873
GRCh38: 17:50168512-50168512
3 SGCA NM_000023.4(SGCA):c.410A>G (p.Glu137Gly) SNV Pathogenic 9438 rs397514451 GRCh37: 17:48245759-48245759
GRCh38: 17:50168398-50168398
4 SGCA SGCA, TYR134TER Variation Pathogenic 9440 GRCh37:
GRCh38:
5 SGCA NM_000023.4(SGCA):c.157G>A (p.Ala53Thr) SNV Pathogenic 281859 rs60407644 GRCh37: 17:48244848-48244848
GRCh38: 17:50167487-50167487
6 SGCA NM_000023.4(SGCA):c.348_352dup (p.Gln118fs) Duplication Pathogenic 471332 rs752640127 GRCh37: 17:48245341-48245342
GRCh38: 17:50167980-50167981
7 SGCA NM_000023.4(SGCA):c.322_325dup (p.Asn109fs) Duplication Pathogenic 497103 rs1555568518 GRCh37: 17:48245316-48245317
GRCh38: 17:50167955-50167956
8 SGCA NM_000023.4(SGCA):c.233_234delinsGA (p.Tyr78Ter) Indel Pathogenic 639468 rs1598265248 GRCh37: 17:48245018-48245019
GRCh38: 17:50167657-50167658
9 SGCA NM_000023.4(SGCA):c.585-2A>C SNV Pathogenic 573660 rs1555568965 GRCh37: 17:48246451-48246451
GRCh38: 17:50169090-50169090
10 SGCA NM_000023.4(SGCA):c.236_237insA (p.Gln80fs) Insertion Pathogenic 581361 rs1567739339 GRCh37: 17:48245021-48245022
GRCh38: 17:50167660-50167661
11 SGCA NM_000023.4(SGCA):c.186C>G (p.Tyr62Ter) SNV Pathogenic 582221 rs766400853 GRCh37: 17:48244971-48244971
GRCh38: 17:50167610-50167610
12 SGCA NM_000023.4(SGCA):c.658_659del (p.Ala220fs) Deletion Pathogenic 836857 GRCh37: 17:48246525-48246526
GRCh38: 17:50169164-50169165
13 SGCA NM_000023.4(SGCA):c.724G>T (p.Val242Phe) SNV Pathogenic 471337 rs200166783 GRCh37: 17:48246592-48246592
GRCh38: 17:50169231-50169231
14 SGCA NM_000023.4(SGCA):c.26dup (p.Leu10fs) Duplication Pathogenic 843937 GRCh37: 17:48243425-48243426
GRCh38: 17:50166064-50166065
15 SGCA NM_000023.4(SGCA):c.790_791dup (p.Gly265fs) Duplication Pathogenic 847583 GRCh37: 17:48247543-48247544
GRCh38: 17:50170182-50170183
16 SGCA NM_000023.4(SGCA):c.801dup (p.Ile268fs) Duplication Pathogenic 852690 GRCh37: 17:48247554-48247555
GRCh38: 17:50170193-50170194
17 SGCA NM_000023.4(SGCA):c.905T>G (p.Leu302Arg) SNV Pathogenic 857216 GRCh37: 17:48247661-48247661
GRCh38: 17:50170300-50170300
18 SGCA NM_000023.4(SGCA):c.408del (p.Glu137fs) Deletion Pathogenic 858005 GRCh37: 17:48245756-48245756
GRCh38: 17:50168395-50168395
19 SGCA NM_000023.4(SGCA):c.86dup (p.His29fs) Duplication Pathogenic 861179 GRCh37: 17:48244776-48244777
GRCh38: 17:50167415-50167416
20 SGCA NM_000023.4(SGCA):c.157+1G>A SNV Pathogenic 847344 GRCh37: 17:48244849-48244849
GRCh38: 17:50167488-50167488
21 SGCA NM_000023.4(SGCA):c.100C>T (p.Arg34Cys) SNV Pathogenic 217250 rs758647756 GRCh37: 17:48244791-48244791
GRCh38: 17:50167430-50167430
22 SGCA NM_000023.4(SGCA):c.292C>T (p.Arg98Cys) SNV Pathogenic 284708 rs138945081 GRCh37: 17:48245077-48245077
GRCh38: 17:50167716-50167716
23 SGCA NM_000023.4(SGCA):c.391del (p.Leu131fs) Deletion Pathogenic 418990 rs144356125 GRCh37: 17:48245736-48245736
GRCh38: 17:50168375-50168375
24 SGCA NM_000023.4(SGCA):c.229C>T (p.Arg77Cys) SNV Pathogenic 9437 rs28933693 GRCh37: 17:48245014-48245014
GRCh38: 17:50167653-50167653
25 SGCA NM_000023.4(SGCA):c.574C>T (p.Arg192Ter) SNV Pathogenic 37202 rs387907298 GRCh37: 17:48245923-48245923
GRCh38: 17:50168562-50168562
26 SGCA NM_000023.4(SGCA):c.101G>A (p.Arg34His) SNV Pathogenic 92301 rs371675217 GRCh37: 17:48244792-48244792
GRCh38: 17:50167431-50167431
27 TUBA1A NM_006009.4(TUBA1A):c.1204C>T (p.Arg402Cys) SNV Pathogenic 160146 rs587784483 GRCh37: 12:49578945-49578945
GRCh38: 12:49185162-49185162
28 SGCA NM_000023.4(SGCA):c.293G>A (p.Arg98His) SNV Pathogenic/Likely pathogenic 9435 rs137852621 GRCh37: 17:48245078-48245078
GRCh38: 17:50167717-50167717
29 SGCA NM_000023.4(SGCA):c.739G>A (p.Val247Met) SNV Pathogenic/Likely pathogenic 167677 rs143570936 GRCh37: 17:48246607-48246607
GRCh38: 17:50169246-50169246
30 SGCA NM_000023.4(SGCA):c.409G>A (p.Glu137Lys) SNV Pathogenic/Likely pathogenic 286049 rs372210292 GRCh37: 17:48245758-48245758
GRCh38: 17:50168397-50168397
31 SGCA NM_000023.4(SGCA):c.850C>T (p.Arg284Cys) SNV Pathogenic/Likely pathogenic 9439 rs137852623 GRCh37: 17:48247606-48247606
GRCh38: 17:50170245-50170245
32 SGCA NM_000023.4(SGCA):c.371T>C (p.Ile124Thr) SNV Pathogenic/Likely pathogenic 188733 rs768814872 GRCh37: 17:48245366-48245366
GRCh38: 17:50168005-50168005
33 SGCA NM_000023.4(SGCA):c.220C>T (p.Arg74Trp) SNV Pathogenic/Likely pathogenic 188811 rs757888349 GRCh37: 17:48245005-48245005
GRCh38: 17:50167644-50167644
34 SGCA NM_000023.4(SGCA):c.92T>C (p.Leu31Pro) SNV Pathogenic/Likely pathogenic 550333 rs903823830 GRCh37: 17:48244783-48244783
GRCh38: 17:50167422-50167422
35 SGCA NM_000023.4(SGCA):c.584+1del Deletion Likely pathogenic 550424 rs1555568876 GRCh37: 17:48245932-48245932
GRCh38: 17:50168571-50168571
36 SGCA NM_000023.4(SGCA):c.1054G>T (p.Glu352Ter) SNV Likely pathogenic 550601 rs763372958 GRCh37: 17:48252688-48252688
GRCh38: 17:50175327-50175327
37 SGCA NM_000023.4(SGCA):c.585-2A>T SNV Likely pathogenic 550629 rs1555568965 GRCh37: 17:48246451-48246451
GRCh38: 17:50169090-50169090
38 SGCA NM_000023.4(SGCA):c.313_319del (p.Val105Profs) Deletion Likely pathogenic 551197 GRCh37: 17:48245304-48245311
GRCh38: 17:50167944-50167950
39 SGCA NM_000023.4(SGCA):c.290A>G (p.Asp97Gly) SNV Likely pathogenic 549996 rs1555568396 GRCh37: 17:48245075-48245075
GRCh38: 17:50167714-50167714
40 SGCA NM_000023.4(SGCA):c.748-2A>T SNV Likely pathogenic 553104 rs1412537279 GRCh37: 17:48247502-48247502
GRCh38: 17:50170141-50170141
41 SGCA NM_000023.4(SGCA):c.956+2_956+19del Deletion Likely pathogenic 554218 rs1555569342 GRCh37: 17:48247709-48247726
GRCh38: 17:50170348-50170365
42 SGCA NM_000023.4(SGCA):c.403C>T (p.Gln135Ter) SNV Likely pathogenic 285818 rs886043221 GRCh37: 17:48245752-48245752
GRCh38: 17:50168391-50168391
43 SGCA NM_000023.4(SGCA):c.559del (p.Leu187fs) Deletion Likely pathogenic 370946 rs1057516888 GRCh37: 17:48245904-48245904
GRCh38: 17:50168543-50168543
44 SGCA NM_000023.4(SGCA):c.754_755del (p.Lys252fs) Deletion Likely pathogenic 371575 rs1057517377 GRCh37: 17:48247510-48247511
GRCh38: 17:50170149-50170150
45 SGCA NM_000023.4(SGCA):c.158-2A>G SNV Likely pathogenic 370189 rs1057516300 GRCh37: 17:48244941-48244941
GRCh38: 17:50167580-50167580
46 SGCA NM_000023.4(SGCA):c.313-2A>G SNV Likely pathogenic 370642 rs1057516650 GRCh37: 17:48245306-48245306
GRCh38: 17:50167945-50167945
47 SGCA NM_000023.4(SGCA):c.511C>T (p.Gln171Ter) SNV Likely pathogenic 370112 rs1057516242 GRCh37: 17:48245860-48245860
GRCh38: 17:50168499-50168499
48 SGCA NM_000023.4(SGCA):c.755del (p.Lys252fs) Deletion Likely pathogenic 370513 rs1057516548 GRCh37: 17:48247510-48247510
GRCh38: 17:50170149-50170149
49 SGCA NM_000023.4(SGCA):c.-1_9del (p.Met1fs) Deletion Likely pathogenic 371228 rs1057517107 GRCh37: 17:48243401-48243410
GRCh38: 17:50166040-50166049
50 SGCA NM_000023.4(SGCA):c.489del (p.Leu164fs) Deletion Likely pathogenic 290625 rs753650776 GRCh37: 17:48245838-48245838
GRCh38: 17:50168477-50168477

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

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

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

Pathways related to Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2d according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.54 SGCG SGCD SGCB SGCA LAMA2 DMD
2
Show member pathways
11.83 SGCG SGCD SGCB SGCA LMNA LAMA2
3 11.41 SGCG SGCD SGCB SGCA LMNA LAMA2
4 11.25 UTRN LAMA2 DAG1
5 10.74 SSPN LAMA2 DMD DAG1
6 10.73 FKTN FKRP

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

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

(show all 17)
# Name GO ID Score Top Affiliating Genes
1 membrane GO:0016020 10.44 UTRN SSPN SGCG SGCE SGCD SGCB
2 cytoplasm GO:0005737 10.37 UTRN TUBA1A TCAP SGCG SGCE SGCD
3 plasma membrane GO:0005886 10.28 UTRN SSPN SGCG SGCE SGCD SGCB
4 cytoskeleton GO:0005856 10.02 UTRN TUBA1A SGCG SGCE SGCD SGCB
5 membrane raft GO:0045121 9.85 TUBA1A SGCA DMD DAG1 CAV3
6 postsynaptic membrane GO:0045211 9.83 UTRN SSPN DMD DAG1
7 Z disc GO:0030018 9.77 TCAP MYOT DMD CAV3 CAPN3
8 neuromuscular junction GO:0031594 9.73 UTRN TUBA1A LAMA2 CAV3
9 filopodium GO:0030175 9.72 UTRN DMD DAG1
10 T-tubule GO:0030315 9.65 DYSF CAV3 CAPN3
11 dystrophin-associated glycoprotein complex GO:0016010 9.61 UTRN SSPN SGCE SGCD SGCB SGCA
12 costamere GO:0043034 9.57 DMD DAG1
13 filopodium membrane GO:0031527 9.56 UTRN DMD
14 sarcoglycan complex GO:0016012 9.55 SGCG SGCE SGCD SGCB SGCA
15 contractile ring GO:0070938 9.51 UTRN DAG1
16 sarcolemma GO:0042383 9.47 UTRN SSPN SGCG SGCE SGCD SGCB
17 dystroglycan complex GO:0016011 9.43 SGCB SGCA DAG1

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

(show all 19)
# Name GO ID Score Top Affiliating Genes
1 muscle contraction GO:0006936 9.63 UTRN SSPN SGCA MYOT DYSF CAV3
2 cardiac muscle tissue development GO:0048738 9.58 SGCG SGCD
3 regulation of sodium ion transmembrane transporter activity GO:2000649 9.58 UTRN CAV3
4 protein O-linked mannosylation GO:0035269 9.57 FKTN FKRP
5 response to muscle stretch GO:0035994 9.56 TCAP DMD
6 heart contraction GO:0060047 9.55 SGCG SGCD
7 muscle fiber development GO:0048747 9.54 SGCB DMD
8 positive regulation of cell-matrix adhesion GO:0001954 9.54 UTRN DMD DAG1
9 plasma membrane repair GO:0001778 9.52 DYSF CAV3
10 cardiac muscle cell development GO:0055013 9.51 SGCB CAV3
11 skeletal muscle tissue regeneration GO:0043403 9.5 SGCA DMD DAG1
12 T-tubule organization GO:0033292 9.49 DYSF CAV3
13 Schwann cell differentiation GO:0014037 9.48 LAMA2 DAG1
14 nucleus localization GO:0051647 9.46 DMD CAV3
15 detection of muscle stretch GO:0035995 9.43 TCAP CAV3
16 muscle cell cellular homeostasis GO:0046716 9.43 DMD CAV3 CAPN3
17 regulation of skeletal muscle contraction GO:0014819 9.4 DMD CAV3
18 muscle organ development GO:0007517 9.4 UTRN SGCG SGCE SGCD SGCB SGCA
19 response to denervation involved in regulation of muscle adaptation GO:0014894 9.26 UTRN SGCA DMD DAG1

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

# Name GO ID Score Top Affiliating Genes
1 alpha-actinin binding GO:0051393 9.37 MYOT DAG1
2 vinculin binding GO:0017166 9.33 UTRN DMD DAG1
3 nitric-oxide synthase binding GO:0050998 9.32 DMD CAV3
4 titin binding GO:0031432 9.26 TCAP CAPN3
5 dystroglycan binding GO:0002162 9.13 FKRP DMD DAG1
6 structural constituent of muscle GO:0008307 9.02 TCAP MYOT DMD DAG1 CAPN3

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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