TAM1
MCID: MYP087
MIFTS: 50

Myopathy, Tubular Aggregate, 1 (TAM1)

Categories: Bone diseases, Genetic diseases, Muscle diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Myopathy, Tubular Aggregate, 1

MalaCards integrated aliases for Myopathy, Tubular Aggregate, 1:

Name: Myopathy, Tubular Aggregate, 1 58 76 74
Tubular Aggregate Myopathy 58 12 54 26 60 76 38 15 74
Myopathy with Tubular Aggregates 26 30 6
Myopathy, Tubular Aggregate 58 54 13
Tam 58 26 76
Tam1 58 76
Myopathy, Tubular Aggregates, Type 1 41
Myopathy, Tubular Aggregate; Tam 58
Myopathy, Tubular Aggregates 41

Characteristics:

Orphanet epidemiological data:

60
tubular aggregate myopathy
Inheritance: Autosomal dominant;

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
slowly progressive
some patients may be asymptomatic
childhood or young adult onset
mild phenotype


HPO:

33
myopathy, tubular aggregate, 1:
Onset and clinical course adult onset slow progression
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 60  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0080089
OMIM 58 160565
KEGG 38 H02258
MeSH 45 D020914
ICD10 via Orphanet 35 G71.2
UMLS via Orphanet 75 C0410207
Orphanet 60 ORPHA2593

Summaries for Myopathy, Tubular Aggregate, 1

OMIM : 58 Tubular aggregates in muscle, first described by Engel (1964), are structures of variable appearance consisting of an outer tubule containing either one or more microtubule-like structures or amorphous material. They are a nonspecific pathologic finding that may occur in a variety of circumstances, including alcohol- and drug-induced myopathies, exercise-induced cramps or muscle weakness, and inherited myopathies. Tubular aggregates are derived from the sarcoplasmic reticulum (Salviati et al., 1985) and are believed to represent an adaptive mechanism aimed at regulating an increased intracellular level of calcium in order to prevent the muscle fibers from hypercontraction and necrosis (Martin et al., 1997; Muller et al., 2001). (160565)

MalaCards based summary : Myopathy, Tubular Aggregate, 1, also known as tubular aggregate myopathy, is related to stormorken syndrome and myopathy, and has symptoms including exercise-induced myalgia and muscular stiffness. An important gene associated with Myopathy, Tubular Aggregate, 1 is STIM1 (Stromal Interaction Molecule 1), and among its related pathways/superpathways are Calcium signaling pathway and Platelet activation. Affiliated tissues include skeletal muscle, and related phenotypes are emg: myopathic abnormalities and myalgia

Genetics Home Reference : 26 Tubular aggregate myopathy is a disorder that primarily affects the skeletal muscles, which are muscles the body uses for movement. This disorder causes muscle pain, cramping, or weakness that begins in childhood and worsens over time. The muscles of the lower limbs are most often affected, although the upper limbs can also be involved. Affected individuals can have difficulty running, climbing stairs, or getting up from a squatting position. The weakness may also lead to an unusual walking style (gait). Some people with this condition develop joint deformities (contractures) in the arms and legs.

NIH Rare Diseases : 54 Tubular aggregate myopathy is a disorder that affects the skeletal muscles. Signs and symptoms typically begin in childhood and worsen over time. The leg muscles are most often affected, but the arm muscles may also be involved. Symptoms include muscle pain, cramping, weakness or stiffness; and exercise-induced muscle fatigue. Affected individuals may have an unusual walking style (gait) or difficulty running, climbing stairs, or getting up from a squatting position. Some individuals develop contractures. This condition may be caused by mutations in the STIM1 orĀ ORAI1 genes. It is usually inherited in an autosomal dominant manner, but autosomal recessive inheritance has also been reported.

UniProtKB/Swiss-Prot : 76 Myopathy, tubular aggregate, 1: A rare congenital myopathy characterized by regular arrays of membrane tubules on muscle biopsies without additional histopathological hallmarks. Tubular aggregates in muscle are structures of variable appearance consisting of an outer tubule containing either one or more microtubule-like structures or amorphous material. They may occur in a variety of circumstances, including inherited myopathies, alcohol- and drug-induced myopathies, exercise-induced cramps or muscle weakness.

Related Diseases for Myopathy, Tubular Aggregate, 1

Diseases in the Myopathy, Tubular Aggregate, 1 family:

Myopathy, Tubular Aggregate, 2

Diseases related to Myopathy, Tubular Aggregate, 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 90)
# Related Disease Score Top Affiliating Genes
1 stormorken syndrome 32.5 STIM2 STIM1 ORAI1 CASQ1
2 myopathy 30.0 STIM1 RYR1 FLNC EMD ACTA1
3 myopathy, tubular aggregate, 2 12.7
4 myeloproliferative syndrome, transient 11.9
5 breast cancer 10.3
6 myopathy, congenital, bailey-bloch 10.2 RYR1 QDPR
7 atrophic muscular disease 10.2 RYR1 ATP2A1
8 central core myopathy 10.2 RYR1 QDPR
9 familial periodic paralysis 10.2 RYR1 QDPR
10 gastric cancer 10.2
11 autosomal dominant limb-girdle muscular dystrophy 10.2 FLNC EMD
12 brody myopathy 10.1 RYR1 ATP2A1
13 myopathy, proximal, and ophthalmoplegia 10.1 RYR1 EMD
14 myopathy, congenital 10.1
15 malignant hyperthermia 10.1 RYR1 QDPR CASQ1
16 adenocarcinoma 10.1
17 myopathy, myofibrillar, 2 10.1 FLNC ACTA1
18 scapuloperoneal myopathy, x-linked dominant 10.1
19 bowenoid papulosis 10.1
20 degos 'en cocarde' erythrokeratoderma 10.1
21 pulmonary fibrosis, idiopathic 10.1
22 down syndrome 10.1
23 pulmonary fibrosis 10.1
24 glioma 10.1
25 hypoxia 10.1
26 congenital structural myopathy 10.1 RYR1 ACTA1
27 malignant hyperthermia susceptibility 10.0 RYR1 CASQ1
28 ptosis 10.0 RYR1 PABPN1 DOK7
29 muscle tissue disease 10.0 RYR1 PABPN1 EMD
30 neuromuscular disease 10.0 RYR1 PABPN1 EMD
31 gyrate atrophy of choroid and retina 10.0
32 miyoshi muscular dystrophy 10.0
33 von willebrand's disease 10.0
34 mitochondrial myopathy 10.0
35 hypertrophic cardiomyopathy 10.0
36 respiratory failure 10.0
37 retinal degeneration 10.0
38 muscle disorders 10.0
39 autoimmune disease 10.0
40 colorectal cancer 10.0
41 systemic lupus erythematosus 10.0
42 pancreatic cancer 10.0
43 lung cancer susceptibility 3 10.0
44 polyarteritis nodosa, childhood-onset 10.0
45 thyroid cancer 10.0
46 lupus erythematosus 10.0
47 distal trisomy 3p 10.0
48 sulfite oxidase deficiency due to molybdenum cofactor deficiency 10.0
49 congenital fiber-type disproportion 9.9 RYR1 EMD ACTA1
50 catecholaminergic polymorphic ventricular tachycardia 9.9 TRDN RYR1 CALR

Graphical network of the top 20 diseases related to Myopathy, Tubular Aggregate, 1:



Diseases related to Myopathy, Tubular Aggregate, 1

Symptoms & Phenotypes for Myopathy, Tubular Aggregate, 1

Human phenotypes related to Myopathy, Tubular Aggregate, 1:

60 33 (show all 27)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 emg: myopathic abnormalities 60 33 hallmark (90%) Very frequent (99-80%) HP:0003458
2 myalgia 60 33 hallmark (90%) Very frequent (99-80%) HP:0003326
3 fatiguable weakness of proximal limb muscles 60 33 hallmark (90%) Very frequent (99-80%) HP:0030200
4 muscle fiber tubular inclusions 60 33 hallmark (90%) Very frequent (99-80%) HP:0100301
5 muscle spasm 33 hallmark (90%) HP:0003394
6 increased variability in muscle fiber diameter 60 33 frequent (33%) Frequent (79-30%) HP:0003557
7 centrally nucleated skeletal muscle fibers 60 33 frequent (33%) Frequent (79-30%) HP:0003687
8 type 2 muscle fiber atrophy 60 33 occasional (7.5%) Occasional (29-5%) HP:0003554
9 respiratory insufficiency 33 occasional (7.5%) HP:0002093
10 flexion contracture 33 occasional (7.5%) HP:0001371
11 nyctalopia 33 occasional (7.5%) HP:0000662
12 external ophthalmoplegia 33 occasional (7.5%) HP:0000544
13 abnormal pupil morphology 33 occasional (7.5%) HP:0000615
14 myopathy 33 HP:0003198
15 areflexia of lower limbs 33 HP:0002522
16 easy fatigability 33 HP:0003388
17 muscle stiffness 33 HP:0003552
18 muscle cramps 60 Very frequent (99-80%)
19 proximal muscle weakness 33 HP:0003701
20 frequent falls 33 HP:0002359
21 fatigable weakness 60 Very frequent (99-80%)
22 proximal amyotrophy 33 HP:0007126
23 difficulty running 33 HP:0009046
24 exercise-induced myalgia 33 HP:0003738
25 weakness of the intrinsic hand muscles 33 HP:0009005
26 hyporeflexia of lower limbs 33 HP:0002600
27 elevated serum creatine kinase 33 HP:0003236

Symptoms via clinical synopsis from OMIM:

58
Muscle Soft Tissue:
easy fatigability
muscle stiffness
proximal muscle weakness
frequent falls
difficulty running
more
Head And Neck Eyes:
external ophthalmoplegia (in some patients)
pupillary abnormalities (reported in 1 family)
difficulties with night vision (reported in 1 family)

Skeletal:
contractures (in some patients)

Laboratory Abnormalities:
increased serum creatine kinase

Respiratory:
respiratory insufficiency (in some patients)

Clinical features from OMIM:

160565

UMLS symptoms related to Myopathy, Tubular Aggregate, 1:


exercise-induced myalgia, muscular stiffness

MGI Mouse Phenotypes related to Myopathy, Tubular Aggregate, 1:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.02 ACTA1 ATP2A1 CHD7 DOK7 EMD FLNC
2 growth/size/body region MP:0005378 10 ACTA1 CALR CASQ1 CHD7 DOK7 FLNC
3 homeostasis/metabolism MP:0005376 9.97 ACTA1 ATP2A1 CALR CASQ1 CHD7 EMD
4 mortality/aging MP:0010768 9.77 ACTA1 ATP2A1 CALR CHD7 DOK7 FLNC
5 muscle MP:0005369 9.4 ACTA1 ATP2A1 CALR CASQ1 CHD7 DOK7

Drugs & Therapeutics for Myopathy, Tubular Aggregate, 1

Interventional clinical trials:


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

Search NIH Clinical Center for Myopathy, Tubular Aggregate, 1

Genetic Tests for Myopathy, Tubular Aggregate, 1

Genetic tests related to Myopathy, Tubular Aggregate, 1:

# Genetic test Affiliating Genes
1 Myopathy with Tubular Aggregates 30

Anatomical Context for Myopathy, Tubular Aggregate, 1

MalaCards organs/tissues related to Myopathy, Tubular Aggregate, 1:

42
Skeletal Muscle

Publications for Myopathy, Tubular Aggregate, 1

Articles related to Myopathy, Tubular Aggregate, 1:

(show all 25)
# Title Authors Year
1
Gain-of-function mutations in STIM1 and ORAI1 causing tubular aggregate myopathy and Stormorken syndrome. ( 30243034 )
2018
2
CASQ1 mutations impair calsequestrin polymerization and cause tubular aggregate myopathy. ( 29039140 )
2018
3
ORAI1 Mutations with Distinct Channel Gating Defects in Tubular Aggregate Myopathy. ( 28058752 )
2017
4
A novel gain-of-function mutation in ORAI1 causes late-onset tubular aggregate myopathy and congenital miosis. ( 27882542 )
2017
5
Mutations in GFPT1-related congenital myasthenic syndromes are associated with synaptic morphological defects and underlie a tubular aggregate myopathy with synaptopathy. ( 28712002 )
2017
6
Identification and characterization of three novel mutations in the CASQ1 gene in four patients with tubular aggregate myopathy. ( 28895244 )
2017
7
Tubular aggregate myopathy with features of Stormorken disease due to a new STIM1 mutation. ( 27876257 )
2017
8
Calcium Dyshomeostasis in Tubular Aggregate Myopathy. ( 27879676 )
2016
9
Tubular aggregate myopathy caused by a novel mutation in the cytoplasmic domain of STIM1. ( 27066587 )
2016
10
Muscle imaging in patients with tubular aggregate myopathy caused by mutations in STIM1. ( 26255678 )
2015
11
50 years to diagnosis: Autosomal dominant tubular aggregate myopathy caused by a novel STIM1 mutation. ( 25953320 )
2015
12
Childhood onset tubular aggregate myopathy associated with de novo STIM1 mutations. ( 24570283 )
2014
13
Muscle MR imaging in tubular aggregate myopathy. ( 24722334 )
2014
14
Clinical, histological and genetic characterisation of patients with tubular aggregate myopathy caused by mutations in STIM1. ( 25326555 )
2014
15
Dominant mutations in ORAI1 cause tubular aggregate myopathy with hypocalcemia via constitutive activation of store-operated Ca2+ channels. ( 25227914 )
2014
16
Constitutive activation of the calcium sensor STIM1 causes tubular-aggregate myopathy. ( 23332920 )
2013
17
Tubular aggregate myopathy: a phenotypic spectrum and morphological study. ( 21045502 )
2010
18
Autosomal recessive tubular aggregate myopathy in an Indian family. ( 18684652 )
2009
19
Tubular aggregate myopathy: a rare form of myopathy. ( 18824361 )
2008
20
Tubular aggregate myopathy associated with retinal degeneration. ( 18443606 )
2008
21
Tubular aggregate myopathy presenting with acute type II respiratory failure and severe orthopnoea. ( 16396955 )
2006
22
Tubular aggregate myopathy: a case report. ( 12589105 )
2003
23
Tubular aggregate myopathy with abnormal pupils and skeletal deformities. ( 12185172 )
2002
24
Dominantly inherited tubular aggregate myopathy. ( 1484321 )
1992
25
Steroid-responsive tubular aggregate myopathy. ( 2041544 )
1991

Variations for Myopathy, Tubular Aggregate, 1

UniProtKB/Swiss-Prot genetic disease variations for Myopathy, Tubular Aggregate, 1:

76 (show all 13)
# Symbol AA change Variation ID SNP ID
1 CASQ1 p.Asp44Asn VAR_079704 rs140253806
2 CASQ1 p.Gly103Asp VAR_079705
3 CASQ1 p.Ile385Thr VAR_079706 rs371278891
4 STIM1 p.His72Gln VAR_069892 rs397515436
5 STIM1 p.Asp84Gly VAR_069893 rs397514675
6 STIM1 p.His109Asn VAR_069894 rs397514676
7 STIM1 p.His109Arg VAR_069895 rs397514677
8 STIM1 p.Ile115Phe VAR_074037 rs527236030
9 STIM1 p.Asn80Thr VAR_075619 rs748277951
10 STIM1 p.Gly81Asp VAR_075620
11 STIM1 p.Leu96Val VAR_075621
12 STIM1 p.Phe108Ile VAR_075622
13 STIM1 p.Phe108Leu VAR_075623

ClinVar genetic disease variations for Myopathy, Tubular Aggregate, 1:

6 (show top 50) (show all 148)
# Gene Variation Type Significance SNP ID Assembly Location
1 STIM1 NM_003156.3(STIM1): c.239A> C (p.Asn80Thr) single nucleotide variant Pathogenic rs748277951 GRCh38 Chromosome 11, 3967651: 3967651
2 STIM1 NM_003156.3(STIM1): c.239A> C (p.Asn80Thr) single nucleotide variant Pathogenic rs748277951 GRCh37 Chromosome 11, 3988881: 3988881
3 STIM1 NM_003156.3(STIM1): c.251A> G (p.Asp84Gly) single nucleotide variant Pathogenic rs397514675 GRCh37 Chromosome 11, 3988893: 3988893
4 STIM1 NM_003156.3(STIM1): c.251A> G (p.Asp84Gly) single nucleotide variant Pathogenic rs397514675 GRCh38 Chromosome 11, 3967663: 3967663
5 STIM1 NM_003156.3(STIM1): c.325C> A (p.His109Asn) single nucleotide variant Pathogenic rs397514676 GRCh37 Chromosome 11, 4045157: 4045157
6 STIM1 NM_003156.3(STIM1): c.325C> A (p.His109Asn) single nucleotide variant Pathogenic rs397514676 GRCh38 Chromosome 11, 4023927: 4023927
7 STIM1 NM_003156.3(STIM1): c.326A> G (p.His109Arg) single nucleotide variant Pathogenic rs397514677 GRCh37 Chromosome 11, 4045158: 4045158
8 STIM1 NM_003156.3(STIM1): c.326A> G (p.His109Arg) single nucleotide variant Pathogenic rs397514677 GRCh38 Chromosome 11, 4023928: 4023928
9 STIM1 NM_003156.3(STIM1): c.216C> A (p.His72Gln) single nucleotide variant Pathogenic rs397515436 GRCh37 Chromosome 11, 3988858: 3988858
10 STIM1 NM_003156.3(STIM1): c.216C> A (p.His72Gln) single nucleotide variant Pathogenic rs397515436 GRCh38 Chromosome 11, 3967628: 3967628
11 STIM1 NM_003156.3(STIM1): c.910C> T (p.Arg304Trp) single nucleotide variant Pathogenic rs483352867 GRCh38 Chromosome 11, 4074620: 4074620
12 STIM1 NM_003156.3(STIM1): c.910C> T (p.Arg304Trp) single nucleotide variant Pathogenic rs483352867 GRCh37 Chromosome 11, 4095850: 4095850
13 STIM1 NM_003156.3(STIM1): c.343A> T (p.Ile115Phe) single nucleotide variant Pathogenic rs527236030 GRCh38 Chromosome 11, 4023945: 4023945
14 STIM1 NM_003156.3(STIM1): c.343A> T (p.Ile115Phe) single nucleotide variant Pathogenic rs527236030 GRCh37 Chromosome 11, 4045175: 4045175
15 STIM1 NM_003156.3(STIM1): c.1571C> T (p.Ser524Phe) single nucleotide variant Conflicting interpretations of pathogenicity rs141215990 GRCh37 Chromosome 11, 4112541: 4112541
16 STIM1 NM_003156.3(STIM1): c.1571C> T (p.Ser524Phe) single nucleotide variant Conflicting interpretations of pathogenicity rs141215990 GRCh38 Chromosome 11, 4091311: 4091311
17 STIM1 NM_003156.3(STIM1): c.114C> G (p.Ala38=) single nucleotide variant Likely benign rs150033189 GRCh38 Chromosome 11, 3856384: 3856384
18 STIM1 NM_003156.3(STIM1): c.114C> G (p.Ala38=) single nucleotide variant Likely benign rs150033189 GRCh37 Chromosome 11, 3877614: 3877614
19 STIM1 NM_003156.3(STIM1): c.1138-9T> C single nucleotide variant Benign rs58461583 GRCh38 Chromosome 11, 4082873: 4082873
20 STIM1 NM_003156.3(STIM1): c.1138-9T> C single nucleotide variant Benign rs58461583 GRCh37 Chromosome 11, 4104103: 4104103
21 STIM1 NM_003156.3(STIM1): c.1302G> A (p.Glu434=) single nucleotide variant Benign rs116837894 GRCh38 Chromosome 11, 4083326: 4083326
22 STIM1 NM_003156.3(STIM1): c.1302G> A (p.Glu434=) single nucleotide variant Benign rs116837894 GRCh37 Chromosome 11, 4104556: 4104556
23 STIM1 NM_003156.3(STIM1): c.1518A> G (p.Pro506=) single nucleotide variant Benign/Likely benign rs199512211 GRCh37 Chromosome 11, 4107750: 4107750
24 STIM1 NM_003156.3(STIM1): c.1518A> G (p.Pro506=) single nucleotide variant Benign/Likely benign rs199512211 GRCh38 Chromosome 11, 4086520: 4086520
25 STIM1 NM_003156.3(STIM1): c.1612C> T (p.Pro538Ser) single nucleotide variant Benign rs35960304 GRCh38 Chromosome 11, 4091352: 4091352
26 STIM1 NM_003156.3(STIM1): c.1612C> T (p.Pro538Ser) single nucleotide variant Benign rs35960304 GRCh37 Chromosome 11, 4112582: 4112582
27 STIM1 NM_003156.3(STIM1): c.1803C> G (p.Pro601=) single nucleotide variant Benign rs61743670 GRCh37 Chromosome 11, 4112773: 4112773
28 STIM1 NM_003156.3(STIM1): c.1803C> G (p.Pro601=) single nucleotide variant Benign rs61743670 GRCh38 Chromosome 11, 4091543: 4091543
29 STIM1 NM_003156.3(STIM1): c.1928G> A (p.Arg643His) single nucleotide variant Conflicting interpretations of pathogenicity rs140080199 GRCh38 Chromosome 11, 4091668: 4091668
30 STIM1 NM_003156.3(STIM1): c.1928G> A (p.Arg643His) single nucleotide variant Conflicting interpretations of pathogenicity rs140080199 GRCh37 Chromosome 11, 4112898: 4112898
31 STIM1 NM_003156.3(STIM1): c.1672C> T (p.Arg558Trp) single nucleotide variant Uncertain significance rs747547917 GRCh38 Chromosome 11, 4091412: 4091412
32 STIM1 NM_003156.3(STIM1): c.1672C> T (p.Arg558Trp) single nucleotide variant Uncertain significance rs747547917 GRCh37 Chromosome 11, 4112642: 4112642
33 STIM1 NM_003156.3(STIM1): c.57G> C (p.Gln19His) single nucleotide variant Uncertain significance rs1554949765 GRCh38 Chromosome 11, 3856327: 3856327
34 STIM1 NM_003156.3(STIM1): c.57G> C (p.Gln19His) single nucleotide variant Uncertain significance rs1554949765 GRCh37 Chromosome 11, 3877557: 3877557
35 STIM1 NM_003156.3(STIM1): c.488C> A (p.Ala163Asp) single nucleotide variant Uncertain significance rs199893056 GRCh38 Chromosome 11, 4055628: 4055628
36 STIM1 NM_003156.3(STIM1): c.488C> A (p.Ala163Asp) single nucleotide variant Uncertain significance rs199893056 GRCh37 Chromosome 11, 4076858: 4076858
37 STIM1 NM_003156.3(STIM1): c.597C> A (p.Leu199=) single nucleotide variant Benign/Likely benign rs189905382 GRCh38 Chromosome 11, 4059380: 4059380
38 STIM1 NM_003156.3(STIM1): c.597C> A (p.Leu199=) single nucleotide variant Benign/Likely benign rs189905382 GRCh37 Chromosome 11, 4080610: 4080610
39 STIM1 NM_003156.3(STIM1): c.1238+9C> T single nucleotide variant Likely benign rs375604403 GRCh37 Chromosome 11, 4104221: 4104221
40 STIM1 NM_003156.3(STIM1): c.1238+9C> T single nucleotide variant Likely benign rs375604403 GRCh38 Chromosome 11, 4082991: 4082991
41 STIM1 NM_003156.3(STIM1): c.1425C> T (p.Asp475=) single nucleotide variant Likely benign rs200776986 GRCh37 Chromosome 11, 4104679: 4104679
42 STIM1 NM_003156.3(STIM1): c.1425C> T (p.Asp475=) single nucleotide variant Likely benign rs200776986 GRCh38 Chromosome 11, 4083449: 4083449
43 STIM1 NM_003156.3(STIM1): c.1541+287G> A single nucleotide variant Benign rs562406813 GRCh38 Chromosome 11, 4086830: 4086830
44 STIM1 NM_003156.3(STIM1): c.1541+287G> A single nucleotide variant Benign rs562406813 GRCh37 Chromosome 11, 4108060: 4108060
45 STIM1 NM_003156.3(STIM1): c.1712A> G (p.Lys571Arg) single nucleotide variant Uncertain significance rs1554972161 GRCh38 Chromosome 11, 4091452: 4091452
46 STIM1 NM_003156.3(STIM1): c.1712A> G (p.Lys571Arg) single nucleotide variant Uncertain significance rs1554972161 GRCh37 Chromosome 11, 4112682: 4112682
47 STIM1 NM_003156.3(STIM1): c.2049T> A (p.Leu683=) single nucleotide variant Likely benign rs199935070 GRCh37 Chromosome 11, 4113019: 4113019
48 STIM1 NM_003156.3(STIM1): c.2049T> A (p.Leu683=) single nucleotide variant Likely benign rs199935070 GRCh38 Chromosome 11, 4091789: 4091789
49 STIM1 NM_003156.3(STIM1): c.234T> C (p.Asp78=) single nucleotide variant Benign rs146126071 GRCh37 Chromosome 11, 3988876: 3988876
50 STIM1 NM_003156.3(STIM1): c.234T> C (p.Asp78=) single nucleotide variant Benign rs146126071 GRCh38 Chromosome 11, 3967646: 3967646

Expression for Myopathy, Tubular Aggregate, 1

Search GEO for disease gene expression data for Myopathy, Tubular Aggregate, 1.

Pathways for Myopathy, Tubular Aggregate, 1

Pathways related to Myopathy, Tubular Aggregate, 1 according to KEGG:

38
# Name Kegg Source Accession
1 Calcium signaling pathway hsa04020
2 Platelet activation hsa04611

GO Terms for Myopathy, Tubular Aggregate, 1

Cellular components related to Myopathy, Tubular Aggregate, 1 according to GeneCards Suite gene sharing:

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 endoplasmic reticulum GO:0005783 9.92 ATP2A1 CALR CASQ1 EMD SDF4 STIM1
2 Z disc GO:0030018 9.67 CASQ1 FLNC RYR1
3 sarcolemma GO:0042383 9.65 CASQ1 FLNC RYR1
4 sarcoplasmic reticulum membrane GO:0033017 9.55 ATP2A1 CASQ1 RYR1 STIM1 TRDN
5 calcium channel complex GO:0034704 9.52 ATP2A1 RYR1
6 I band GO:0031674 9.51 CASQ1 RYR1
7 junctional sarcoplasmic reticulum membrane GO:0014701 9.46 RYR1 TRDN
8 junctional membrane complex GO:0030314 9.43 RYR1 TRDN
9 smooth endoplasmic reticulum GO:0005790 9.43 CALR CASQ1 RYR1
10 cortical endoplasmic reticulum GO:0032541 9.4 EMD STIM1
11 terminal cisterna GO:0014802 9.37 CASQ1 RYR1
12 sarcoplasmic reticulum lumen GO:0033018 9.26 CALR CASQ1 SRL TRDN
13 sarcoplasmic reticulum GO:0016529 9.17 ATP2A1 CALR CASQ1 RYR1 SRL STIM1

Biological processes related to Myopathy, Tubular Aggregate, 1 according to GeneCards Suite gene sharing:

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 ion transport GO:0006811 9.91 ATP2A1 ORAI1 RYR1 STIM1 STIM2
2 ion transmembrane transport GO:0034220 9.8 ATP2A1 CASQ1 RYR1 TRDN
3 calcium ion transport GO:0006816 9.77 ATP2A1 ORAI1 RYR1 STIM1 STIM2
4 calcium ion transmembrane transport GO:0070588 9.72 ATP2A1 ORAI1 RYR1 STIM1 STIM2
5 regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum GO:0010880 9.58 CASQ1 CHD7 TRDN
6 regulation of calcium ion transport GO:0051924 9.56 ORAI1 STIM1
7 positive regulation of calcium ion transport GO:0051928 9.55 ORAI1 STIM2
8 muscle contraction GO:0006936 9.55 ACTA1 EMD PABPN1 RYR1 TRDN
9 skeletal muscle fiber development GO:0048741 9.54 ACTA1 RYR1
10 calcium ion import GO:0070509 9.52 ATP2A1 ORAI1
11 regulation of store-operated calcium entry GO:2001256 9.48 CASQ1 STIM1
12 release of sequestered calcium ion into cytosol by sarcoplasmic reticulum GO:0014808 9.46 RYR1 TRDN
13 activation of store-operated calcium channel activity GO:0032237 9.43 STIM1 STIM2
14 store-operated calcium entry GO:0002115 9.43 ORAI1 STIM1 STIM2
15 regulation of cardiac conduction GO:1903779 9.35 ATP2A1 CASQ1 RYR1 STIM1 TRDN
16 cellular calcium ion homeostasis GO:0006874 9.1 ATP2A1 CALR RYR1 STIM1 STIM2 TRDN

Molecular functions related to Myopathy, Tubular Aggregate, 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 calcium ion binding GO:0005509 9.5 ATP2A1 CALR CASQ1 RYR1 SDF4 STIM1
2 store-operated calcium channel activity GO:0015279 8.8 ORAI1 STIM1 STIM2

Sources for Myopathy, Tubular Aggregate, 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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