TAM1
MCID: MYP087
MIFTS: 52

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 57 75 73
Tubular Aggregate Myopathy 57 12 53 25 59 75 15 73
Myopathy with Tubular Aggregates 25 29 6
Myopathy, Tubular Aggregate 57 53 13
Tam 57 25 75
Tam1 57 75
Myopathy, Tubular Aggregates, Type 1 40
Myopathy, Tubular Aggregate; Tam 57
Myopathy, Tubular Aggregates 40

Characteristics:

Orphanet epidemiological data:

59
tubular aggregate myopathy
Inheritance: Autosomal dominant;

OMIM:

57
Inheritance:
autosomal dominant

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


HPO:

32
myopathy, tubular aggregate, 1:
Onset and clinical course adult onset slow progression
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 59  
Rare neurological diseases


Summaries for Myopathy, Tubular Aggregate, 1

OMIM : 57 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 Cardiac conduction and Myometrial Relaxation and Contraction Pathways. Affiliated tissues include skeletal muscle, lung and kidney, and related phenotypes are myalgia and muscle cramps

Genetics Home Reference : 25 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 : 53 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 : 75 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 76)
# Related Disease Score Top Affiliating Genes
1 stormorken syndrome 32.6 STIM2 STIM1 ORAI1 CASQ1
2 myopathy 30.1 STIM1 RYR1 FLNC EMD ACTA1
3 myopathy, tubular aggregate, 2 12.7
4 myeloproliferative syndrome, transient 11.9
5 congenital myasthenic syndromes with glycosylation defect 10.2 GFPT1 DPAGT1
6 breast cancer 10.2
7 gastric cancer 10.2
8 atrophic muscular disease 10.2 RYR1 ATP2A1
9 myopathy, congenital, bailey-bloch 10.1 RYR1 QDPR
10 central core myopathy 10.1 RYR1 QDPR
11 myopathy, congenital 10.1
12 familial periodic paralysis 10.1 RYR1 QDPR
13 brody myopathy 10.1 RYR1 ATP2A1
14 sclerosteosis 2 10.1 DPAGT1 DOK7
15 myopathy, proximal, and ophthalmoplegia 10.1 RYR1 EMD
16 scapuloperoneal myopathy, x-linked dominant 10.1
17 degos 'en cocarde' erythrokeratoderma 10.1
18 pulmonary fibrosis, idiopathic 10.1
19 pulmonary fibrosis 10.1
20 adenocarcinoma 10.1
21 glioma 10.1
22 hypoxia 10.1
23 congenital structural myopathy 10.1 RYR1 ACTA1
24 muscle tissue disease 10.0 RYR1 PABPN1 EMD
25 ptosis 10.0 RYR1 PABPN1 DOK7
26 autosomal dominant limb-girdle muscular dystrophy 10.0 FLNC EMD
27 neuromuscular disease 10.0 RYR1 PABPN1 EMD
28 congenital fiber-type disproportion 10.0 RYR1 EMD ACTA1
29 mitochondrial myopathy 10.0
30 gyrate atrophy of choroid and retina 10.0
31 miyoshi muscular dystrophy 10.0
32 congenital myasthenic syndrome 10.0 RYR1 GFPT1 DPAGT1 DOK7
33 catecholaminergic polymorphic ventricular tachycardia 10.0 TRDN RYR1 CALR
34 autoimmune disease 10.0
35 systemic lupus erythematosus 10.0
36 lung cancer susceptibility 3 10.0
37 lupus erythematosus 10.0
38 respiratory failure 10.0
39 retinal degeneration 10.0
40 muscle disorders 10.0
41 myopathy, myofibrillar, 2 10.0 FLNC ACTA1
42 malignant hyperthermia susceptibility 10.0 RYR1 CASQ1
43 colorectal cancer 9.8
44 prostate cancer 9.8
45 down syndrome 9.8
46 lung cancer 9.8
47 autoimmune disease 1 9.8
48 endometrial cancer 9.8
49 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 9.8
50 microvascular complications of diabetes 3 9.8

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

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Myopathy, Tubular Aggregate, 1:

59 32 (show all 27)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 myalgia 59 32 hallmark (90%) Very frequent (99-80%) HP:0003326
2 muscle cramps 59 32 hallmark (90%) Very frequent (99-80%) HP:0003394
3 increased variability in muscle fiber diameter 59 32 frequent (33%) Frequent (79-30%) HP:0003557
4 fatiguable weakness of proximal limb muscles 59 32 hallmark (90%) Very frequent (99-80%) HP:0030200
5 centrally nucleated skeletal muscle fibers 59 32 frequent (33%) Frequent (79-30%) HP:0003687
6 muscle fiber tubular inclusions 59 32 hallmark (90%) Very frequent (99-80%) HP:0100301
7 type 2 muscle fiber atrophy 59 32 occasional (7.5%) Occasional (29-5%) HP:0003554
8 respiratory insufficiency 32 occasional (7.5%) HP:0002093
9 flexion contracture 32 occasional (7.5%) HP:0001371
10 myopathy 32 HP:0003198
11 elevated serum creatine phosphokinase 32 HP:0003236
12 areflexia of lower limbs 32 HP:0002522
13 emg: myopathic abnormalities 59 Very frequent (99-80%)
14 nyctalopia 32 occasional (7.5%) HP:0000662
15 easy fatigability 32 HP:0003388
16 muscle stiffness 32 HP:0003552
17 proximal muscle weakness 32 HP:0003701
18 frequent falls 32 HP:0002359
19 fatigable weakness 59 Very frequent (99-80%)
20 external ophthalmoplegia 32 occasional (7.5%) HP:0000544
21 proximal amyotrophy 32 HP:0007126
22 difficulty running 32 HP:0009046
23 exercise-induced myalgia 32 HP:0003738
24 hyporeflexia of lower limbs 32 HP:0002600
25 weakness of the intrinsic hand muscles 32 HP:0009005
26 emg 32 hallmark (90%) HP:0003458
27 abnormal pupil morphology 32 occasional (7.5%) HP:0000615

UMLS symptoms related to Myopathy, Tubular Aggregate, 1:


exercise-induced myalgia, muscular stiffness

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

46
# 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 9.8 ACTA1 ATP2A1 CALR CHD7 DOK7 DPAGT1
5 muscle MP:0005369 9.4 ACTA1 ATP2A1 CALR CASQ1 CHD7 DOK7

Drugs & Therapeutics for Myopathy, Tubular Aggregate, 1

Search Clinical Trials , 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 29 STIM1

Anatomical Context for Myopathy, Tubular Aggregate, 1

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

41
Skeletal Muscle, Lung, Kidney, Liver, Bone, Thyroid, Retina

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:

75 (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.251A> G (p.Asp84Gly) single nucleotide variant Pathogenic rs397514675 GRCh37 Chromosome 11, 3988893: 3988893
2 STIM1 NM_003156.3(STIM1): c.251A> G (p.Asp84Gly) single nucleotide variant Pathogenic rs397514675 GRCh38 Chromosome 11, 3967663: 3967663
3 STIM1 NM_003156.3(STIM1): c.325C> A (p.His109Asn) single nucleotide variant Pathogenic rs397514676 GRCh37 Chromosome 11, 4045157: 4045157
4 STIM1 NM_003156.3(STIM1): c.325C> A (p.His109Asn) single nucleotide variant Pathogenic rs397514676 GRCh38 Chromosome 11, 4023927: 4023927
5 STIM1 NM_003156.3(STIM1): c.326A> G (p.His109Arg) single nucleotide variant Pathogenic rs397514677 GRCh37 Chromosome 11, 4045158: 4045158
6 STIM1 NM_003156.3(STIM1): c.326A> G (p.His109Arg) single nucleotide variant Pathogenic rs397514677 GRCh38 Chromosome 11, 4023928: 4023928
7 STIM1 NM_003156.3(STIM1): c.216C> A (p.His72Gln) single nucleotide variant Pathogenic rs397515436 GRCh37 Chromosome 11, 3988858: 3988858
8 STIM1 NM_003156.3(STIM1): c.216C> A (p.His72Gln) single nucleotide variant Pathogenic rs397515436 GRCh38 Chromosome 11, 3967628: 3967628
9 STIM1 NM_003156.3(STIM1): c.910C> T (p.Arg304Trp) single nucleotide variant Pathogenic rs483352867 GRCh38 Chromosome 11, 4074620: 4074620
10 STIM1 NM_003156.3(STIM1): c.910C> T (p.Arg304Trp) single nucleotide variant Pathogenic rs483352867 GRCh37 Chromosome 11, 4095850: 4095850
11 STIM1 NM_003156.3(STIM1): c.343A> T (p.Ile115Phe) single nucleotide variant Pathogenic rs527236030 GRCh38 Chromosome 11, 4023945: 4023945
12 STIM1 NM_003156.3(STIM1): c.343A> T (p.Ile115Phe) single nucleotide variant Pathogenic rs527236030 GRCh37 Chromosome 11, 4045175: 4045175
13 STIM1 NM_003156.3(STIM1): c.239A> C (p.Asn80Thr) single nucleotide variant Pathogenic rs748277951 GRCh38 Chromosome 11, 3967651: 3967651
14 STIM1 NM_003156.3(STIM1): c.239A> C (p.Asn80Thr) single nucleotide variant Pathogenic rs748277951 GRCh37 Chromosome 11, 3988881: 3988881
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 Likely benign rs140080199 GRCh38 Chromosome 11, 4091668: 4091668
30 STIM1 NM_003156.3(STIM1): c.1928G> A (p.Arg643His) single nucleotide variant Likely benign rs140080199 GRCh37 Chromosome 11, 4112898: 4112898
31 STIM1 NM_003156.3(STIM1): c.1672C> T (p.Arg558Trp) single nucleotide variant Uncertain significance rs747547917 GRCh37 Chromosome 11, 4112642: 4112642
32 STIM1 NM_003156.3(STIM1): c.1672C> T (p.Arg558Trp) single nucleotide variant Uncertain significance rs747547917 GRCh38 Chromosome 11, 4091412: 4091412
33 STIM1 NM_003156.3(STIM1): c.57G> C (p.Gln19His) single nucleotide variant Uncertain significance GRCh37 Chromosome 11, 3877557: 3877557
34 STIM1 NM_003156.3(STIM1): c.57G> C (p.Gln19His) single nucleotide variant Uncertain significance GRCh38 Chromosome 11, 3856327: 3856327
35 STIM1 NM_003156.3(STIM1): c.488C> A (p.Ala163Asp) single nucleotide variant Uncertain significance rs199893056 GRCh37 Chromosome 11, 4076858: 4076858
36 STIM1 NM_003156.3(STIM1): c.488C> A (p.Ala163Asp) single nucleotide variant Uncertain significance rs199893056 GRCh38 Chromosome 11, 4055628: 4055628
37 STIM1 NM_003156.3(STIM1): c.597C> A (p.Leu199=) single nucleotide variant Benign/Likely benign rs189905382 GRCh37 Chromosome 11, 4080610: 4080610
38 STIM1 NM_003156.3(STIM1): c.597C> A (p.Leu199=) single nucleotide variant Benign/Likely benign rs189905382 GRCh38 Chromosome 11, 4059380: 4059380
39 STIM1 NM_003156.3(STIM1): c.1238+9C> T single nucleotide variant Likely benign rs375604403 GRCh38 Chromosome 11, 4082991: 4082991
40 STIM1 NM_003156.3(STIM1): c.1238+9C> T single nucleotide variant Likely benign rs375604403 GRCh37 Chromosome 11, 4104221: 4104221
41 STIM1 NM_003156.3(STIM1): c.1425C> T (p.Asp475=) single nucleotide variant Likely benign rs200776986 GRCh38 Chromosome 11, 4083449: 4083449
42 STIM1 NM_003156.3(STIM1): c.1425C> T (p.Asp475=) single nucleotide variant Likely benign rs200776986 GRCh37 Chromosome 11, 4104679: 4104679
43 STIM1 NM_003156.3(STIM1): c.1541+287G> A single nucleotide variant Benign rs562406813 GRCh37 Chromosome 11, 4108060: 4108060
44 STIM1 NM_003156.3(STIM1): c.1541+287G> A single nucleotide variant Benign rs562406813 GRCh38 Chromosome 11, 4086830: 4086830
45 STIM1 NM_003156.3(STIM1): c.1712A> G (p.Lys571Arg) single nucleotide variant Uncertain significance GRCh37 Chromosome 11, 4112682: 4112682
46 STIM1 NM_003156.3(STIM1): c.1712A> G (p.Lys571Arg) single nucleotide variant Uncertain significance GRCh38 Chromosome 11, 4091452: 4091452
47 STIM1 NM_003156.3(STIM1): c.2049T> A (p.Leu683=) single nucleotide variant Likely benign rs199935070 GRCh38 Chromosome 11, 4091789: 4091789
48 STIM1 NM_003156.3(STIM1): c.2049T> A (p.Leu683=) single nucleotide variant Likely benign rs199935070 GRCh37 Chromosome 11, 4113019: 4113019
49 STIM1 NM_003156.3(STIM1): c.234T> C (p.Asp78=) single nucleotide variant Benign rs146126071 GRCh38 Chromosome 11, 3967646: 3967646
50 STIM1 NM_003156.3(STIM1): c.234T> C (p.Asp78=) single nucleotide variant Benign rs146126071 GRCh37 Chromosome 11, 3988876: 3988876

Expression for Myopathy, Tubular Aggregate, 1

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

Pathways for Myopathy, Tubular Aggregate, 1

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 9.91 ATP2A1 CALR CASQ1 DPAGT1 EMD SDF4
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 smooth endoplasmic reticulum GO:0005790 9.5 CALR CASQ1 RYR1
8 junctional sarcoplasmic reticulum membrane GO:0014701 9.46 RYR1 TRDN
9 junctional membrane complex GO:0030314 9.43 RYR1 TRDN
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 17)
# Name GO ID Score Top Affiliating Genes
1 ion transport GO:0006811 9.92 ATP2A1 ORAI1 RYR1 STIM1 STIM2
2 ion transmembrane transport GO:0034220 9.81 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 muscle contraction GO:0006936 9.65 ACTA1 EMD PABPN1 RYR1 TRDN
6 regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum GO:0010880 9.58 CASQ1 CHD7 TRDN
7 regulation of calcium ion transport GO:0051924 9.57 ORAI1 STIM1
8 positive regulation of calcium ion transport GO:0051928 9.56 ORAI1 STIM2
9 skeletal muscle fiber development GO:0048741 9.55 ACTA1 RYR1
10 calcium ion import GO:0070509 9.54 ATP2A1 ORAI1
11 regulation of store-operated calcium entry GO:2001256 9.49 CASQ1 STIM1
12 release of sequestered calcium ion into cytosol by sarcoplasmic reticulum GO:0014808 9.48 RYR1 TRDN
13 UDP-N-acetylglucosamine metabolic process GO:0006047 9.46 DPAGT1 GFPT1
14 activation of store-operated calcium channel activity GO:0032237 9.43 STIM1 STIM2
15 cellular calcium ion homeostasis GO:0006874 9.43 ATP2A1 CALR RYR1 STIM1 STIM2 TRDN
16 store-operated calcium entry GO:0002115 9.33 ORAI1 STIM1 STIM2
17 regulation of cardiac conduction GO:1903779 9.02 ATP2A1 CASQ1 RYR1 STIM1 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

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