TAM1
MCID: MYP087
MIFTS: 49

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 73 29 6 71
Tubular Aggregate Myopathy 57 20 43 58 73 36 71
Myopathy with Tubular Aggregates 43 29 6
Myopathy, Tubular Aggregate 57 20 13
Tam 57 43 73
Tubular Aggregate Myopathy 1 12 15
Tam1 57 73
Myopathy, Tubular Aggregates, Type 1 39
Myopathy, Tubular Aggregate; Tam 57
Myopathy, Tubular Aggregates 39

Characteristics:

Orphanet epidemiological data:

58
tubular aggregate myopathy
Inheritance: Autosomal dominant;

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
autosomal dominant

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


HPO:

31
myopathy, tubular aggregate, 1:
Inheritance autosomal dominant inheritance
Onset and clinical course adult onset slow progression


Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0080089
OMIM® 57 160565
OMIM Phenotypic Series 57 PS160565
KEGG 36 H02258
MeSH 44 D020914
ICD10 via Orphanet 33 G71.2
UMLS via Orphanet 72 C0410207
Orphanet 58 ORPHA2593
UMLS 71 C0410207 C4011726

Summaries for Myopathy, Tubular Aggregate, 1

MedlinePlus Genetics : 43 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.Skeletal muscles are normally made up of two types of fibers, called type I and type II fibers, in approximately equal quantities. Type I fibers, also called slow twitch fibers, are used for long, sustained activity, such as walking long distances. Type II fibers, also known as fast twitch fibers, are used for short bursts of strength, which are needed for activities such as running up stairs or sprinting. In people with tubular aggregate myopathy, type II fibers waste away (atrophy), so affected individuals have mostly type I fibers. In addition, proteins build up abnormally in both type I and type II fibers, forming clumps of tube-like structures called tubular aggregates. Tubular aggregates can occur in other muscle disorders, but they are the primary muscle cell abnormality in tubular aggregate myopathy.

MalaCards based summary : Myopathy, Tubular Aggregate, 1, also known as tubular aggregate myopathy, is related to stormorken syndrome and von willebrand's disease, 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, eye and spleen, and related phenotypes are emg: myopathic abnormalities and myalgia

Disease Ontology : 12 A myopathy that is characterized by the presence of tubular aggregates in myofibrils and has material basis in heterozygous mutation in the STIM1 gene on chromosome 11p15.

GARD : 20 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 or ORAI1 genes. It is usually inherited in an autosomal dominant manner, but autosomal recessive inheritance has also been reported.

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) (Updated 05-Mar-2021)

KEGG : 36 Tubular aggregate myopathy (TAM) is a hereditary muscle disorder characterized by the presence of tubular aggregates, abnormal structures in the skeletal muscle. It has been reported that activating mutations in STIM1 and ORAI1 cause TAM. ORAI1 encodes a subunit of calcium release-activated calcium (CRAC) channel, and STIM1 encodes a Ca2+ sensor that controls CRAC channels.

UniProtKB/Swiss-Prot : 73 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 166)
# Related Disease Score Top Affiliating Genes
1 stormorken syndrome 32.1 STIM2 STIM1 ORAI1 LOC112081391 CASQ1
2 von willebrand's disease 29.7 SELP GP9
3 myeloproliferative syndrome, transient 11.4
4 myopathy 10.8
5 thrombocytopenia 10.4
6 ichthyosis 10.4
7 dyslexia 10.4
8 muscular atrophy 10.3
9 periodic paralysis 10.3
10 batten-turner congenital myopathy 10.2
11 gyrate atrophy of choroid and retina 10.2
12 ptosis 10.2
13 dysphagia 10.2
14 kearns-sayre syndrome 10.2
15 autoimmune disease 10.2
16 breast cancer 10.2
17 fibrosis of extraocular muscles, congenital, 1 10.2
18 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 10.1
19 glioblastoma 10.1
20 down syndrome 10.1
21 pik3ca-related overgrowth syndrome 10.1
22 anemia, autoimmune hemolytic 10.1 STIM2 STIM1
23 alcohol dependence 10.1
24 atrial standstill 1 10.1
25 hyperkalemic periodic paralysis 10.1
26 miyoshi muscular dystrophy 10.1
27 myoglobinuria 10.1
28 hypertrophic cardiomyopathy 10.1
29 myotonia congenita 10.1
30 progressive muscular atrophy 10.1
31 neuromuscular disease 10.1
32 necrotizing autoimmune myopathy 10.1
33 myotonia 10.1
34 microcoria, congenital 10.0
35 scoliosis 10.0
36 combined immunodeficiency 10.0
37 microphthalmia 10.0
38 anhidrosis 10.0
39 congenital myasthenic syndrome 10.0
40 mitochondrial myopathy 10.0
41 posttransplant acute limbic encephalitis 10.0
42 combined immunodeficiency due to crac channel dysfunction 10.0 STIM1 ORAI1 LOC112081391
43 t cell and nk cell immunodeficiency 10.0 STIM2 STIM1 ORAI1
44 colorectal cancer 10.0
45 systemic lupus erythematosus 10.0
46 pulmonary fibrosis, idiopathic 10.0
47 small cell cancer of the lung 10.0
48 osteogenic sarcoma 10.0
49 leukemia 10.0
50 squamous cell carcinoma 10.0

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:

58 31 (show all 26)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 emg: myopathic abnormalities 58 31 hallmark (90%) Very frequent (99-80%) HP:0003458
2 myalgia 58 31 hallmark (90%) Very frequent (99-80%) HP:0003326
3 muscle spasm 58 31 hallmark (90%) Very frequent (99-80%) HP:0003394
4 fatiguable weakness of proximal limb muscles 58 31 hallmark (90%) Very frequent (99-80%) HP:0030200
5 muscle fiber tubular inclusions 58 31 hallmark (90%) Very frequent (99-80%) HP:0100301
6 increased variability in muscle fiber diameter 58 31 frequent (33%) Frequent (79-30%) HP:0003557
7 centrally nucleated skeletal muscle fibers 58 31 frequent (33%) Frequent (79-30%) HP:0003687
8 type 2 muscle fiber atrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0003554
9 respiratory insufficiency 31 occasional (7.5%) HP:0002093
10 flexion contracture 31 occasional (7.5%) HP:0001371
11 abnormal pupil morphology 31 occasional (7.5%) HP:0000615
12 nyctalopia 31 occasional (7.5%) HP:0000662
13 external ophthalmoplegia 31 occasional (7.5%) HP:0000544
14 myopathy 31 HP:0003198
15 elevated serum creatine kinase 31 HP:0003236
16 easy fatigability 31 HP:0003388
17 muscle stiffness 31 HP:0003552
18 proximal amyotrophy 31 HP:0007126
19 proximal muscle weakness 31 HP:0003701
20 frequent falls 31 HP:0002359
21 fatigable weakness 58 Very frequent (99-80%)
22 exercise-induced myalgia 31 HP:0003738
23 areflexia of lower limbs 31 HP:0002522
24 hyporeflexia of lower limbs 31 HP:0002600
25 difficulty running 31 HP:0009046
26 weakness of the intrinsic hand muscles 31 HP:0009005

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Muscle Soft Tissue:
easy fatigability
muscle stiffness
proximal muscle weakness
frequent falls
exercise-induced myalgia
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 (Updated 05-Mar-2021)

UMLS symptoms related to Myopathy, Tubular Aggregate, 1:


exercise-induced myalgia, muscular stiffness

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
2 Myopathy, Tubular Aggregate, 1 29 STIM1

Anatomical Context for Myopathy, Tubular Aggregate, 1

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

40
Skeletal Muscle, Eye, Spleen, Skin

Publications for Myopathy, Tubular Aggregate, 1

Articles related to Myopathy, Tubular Aggregate, 1:

(show top 50) (show all 63)
# Title Authors PMID Year
1
Clinical, histological and genetic characterisation of patients with tubular aggregate myopathy caused by mutations in STIM1. 61 57 6
25326555 2014
2
Childhood onset tubular aggregate myopathy associated with de novo STIM1 mutations. 61 6 57
24570283 2014
3
Constitutive activation of the calcium sensor STIM1 causes tubular-aggregate myopathy. 57 61 6
23332920 2013
4
Dominantly inherited tubular aggregate myopathy. 61 57
1484321 1992
5
York platelet syndrome is a CRAC channelopathy due to gain-of-function mutations in STIM1. 6
25577287 2015
6
Giant electron dense chains, clusters and granules in megakaryocytes and platelets with normal dense bodies: an inherited thrombocytopenic disorder III. Platelet analytical electron microscopy. 6
12944247 2003
7
Giant electron dense chains, clusters and granules in megakaryocytes and platelets with normal dense bodies: an inherited thrombocytopenic disorder IV. Ultrastructural cytochemistry and analytical electron microscopy. 6
12944248 2003
8
Giant electron-dense chains, clusters and granules in megakaryocytes and platelets with normal dense bodies: an inherited thrombocytopenic disorder. 6
12745453 2003
9
Giant electron-dense chains, clusters and granules in megakaryocytes and platelets with normal dense bodies: an inherited thrombocytopenic disorder I. Megakaryocytes. 6
12623447 2003
10
Dominantly inherited myopathy with novel tubular aggregates containing 1-21 tubulofilamentous structures. 57
11547948 2001
11
On a dominantly inherited myopathy with tubular aggregates. 57
9447609 1997
12
Familial neuromuscular disease with tubular aggregates. 57
16758595 1985
13
Tubular aggregates: sarcoplasmic reticulum origin, calcium storage ability, and functional implications. 57
16758596 1985
14
A dominantly inherited myopathy with excessive tubular aggregates. 57
6681878 1983
15
MITOCHONDRIAL AGGREGATES IN MUSCLE DISEASE. 57
14187309 1964
16
Functional analyses of STIM1 mutations reveal a common pathomechanism for tubular aggregate myopathy and Stormorken syndrome. 61
33073872 2020
17
Clinical and muscle MRI features in a family with tubular aggregate myopathy and novel STIM1 mutation. 61
32893083 2020
18
Calcium entry units (CEUs): perspectives in skeletal muscle function and disease. 61
32812118 2020
19
Luminal STIM1 Mutants that Cause Tubular Aggregate Myopathy Promote Autophagic Processes. 61
32575830 2020
20
Chronic Thrombocytopenia as the Initial Manifestation of STIM1-Related Disorders. 61
32234795 2020
21
Cylindrical spirals in two families: Clinical and genetic investigations. 61
31952901 2020
22
STIM1/ORAI1 Loss-of-Function and Gain-of-Function Mutations Inversely Impact on SOCE and Calcium Homeostasis and Cause Multi-Systemic Mirror Diseases. 61
33250786 2020
23
Tubular aggregate myopathy and Stormorken syndrome: Mutation spectrum and genotype/phenotype correlation. 61
31448844 2020
24
A luminal EF-hand mutation in STIM1 in mice causes the clinical hallmarks of tubular aggregate myopathy. 61
31666234 2019
25
Sweat retention anhidrosis associated with tubular aggregate myopathy. 61
31145807 2019
26
Sequential activation of STIM1 links Ca2+ with luminal domain unfolding. 61
31744929 2019
27
CRAC channels and disease - From human CRAC channelopathies and animal models to novel drugs. 61
31009822 2019
28
STIM1 over-activation generates a multi-systemic phenotype affecting the skeletal muscle, spleen, eye, skin, bones and immune system in mice. 61
30576443 2019
29
ORAI1 channel gating and selectivity is differentially altered by natural mutations in the first or third transmembrane domain. 61
30382595 2019
30
Gain-of-function mutations in STIM1 and ORAI1 causing tubular aggregate myopathy and Stormorken syndrome. 61
30243034 2018
31
[Tubular aggregate myopathy and Stormorken syndrome]. 61
30418142 2018
32
Stormorken Syndrome Caused by a p.R304W STIM1 Mutation: The First Italian Patient and a Review of the Literature. 61
30374325 2018
33
CASQ1 mutations impair calsequestrin polymerization and cause tubular aggregate myopathy. 61
29039140 2018
34
Disturbed Ca2+ Homeostasis in Muscle-Wasting Disorders. 61
30390258 2018
35
Identification and characterization of three novel mutations in the CASQ1 gene in four patients with tubular aggregate myopathy. 61
28895244 2017
36
Complex phenotypes associated with STIM1 mutations in both coiled coil and EF-hand domains. 61
28624464 2017
37
Mutations in GFPT1-related congenital myasthenic syndromes are associated with synaptic morphological defects and underlie a tubular aggregate myopathy with synaptopathy. 61
28712002 2017
38
A novel gain-of-function mutation in ORAI1 causes late-onset tubular aggregate myopathy and congenital miosis. 61
27882542 2017
39
ORAI1 Mutations with Distinct Channel Gating Defects in Tubular Aggregate Myopathy. 61
28058752 2017
40
Molecular Determinants for STIM1 Activation During Store- Operated Ca2+ Entry. 61
28231751 2017
41
Tubular aggregate myopathy with features of Stormorken disease due to a new STIM1 mutation. 61
27876257 2017
42
Calcium Dyshomeostasis in Tubular Aggregate Myopathy. 61
27879676 2016
43
[Tubular aggregate myopathy: report of a case]. 61
27142922 2016
44
Tubular aggregate myopathy caused by a novel mutation in the cytoplasmic domain of STIM1. 61
27066587 2016
45
Use of Whole-Exome Sequencing for Diagnosis of Limb-Girdle Muscular Dystrophy: Outcomes and Lessons Learned. 61
26436962 2015
46
Diseases caused by mutations in ORAI1 and STIM1. 61
26469693 2015
47
Muscle imaging in patients with tubular aggregate myopathy caused by mutations in STIM1. 61
26255678 2015
48
50 years to diagnosis: Autosomal dominant tubular aggregate myopathy caused by a novel STIM1 mutation. 61
25953320 2015
49
Dominant mutations in ORAI1 cause tubular aggregate myopathy with hypocalcemia via constitutive activation of store-operated Ca²⁺ channels. 61
25227914 2015
50
A dominant STIM1 mutation causes Stormorken syndrome. 61
24619930 2014

Variations for Myopathy, Tubular Aggregate, 1

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

6 (show top 50) (show all 185)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 STIM1 NM_003156.3(STIM1):c.251A>G (p.Asp84Gly) SNV Pathogenic 41481 rs397514675 11:3988893-3988893 11:3967663-3967663
2 STIM1 NM_003156.3(STIM1):c.325C>A (p.His109Asn) SNV Pathogenic 41482 rs397514676 11:4045157-4045157 11:4023927-4023927
3 STIM1 NM_003156.3(STIM1):c.326A>G (p.His109Arg) SNV Pathogenic 41483 rs397514677 11:4045158-4045158 11:4023928-4023928
4 STIM1 NM_003156.3(STIM1):c.216C>A (p.His72Gln) SNV Pathogenic 41484 rs397515436 11:3988858-3988858 11:3967628-3967628
5 STIM1 NM_003156.3(STIM1):c.343A>T (p.Ile115Phe) SNV Pathogenic 143191 rs527236030 11:4045175-4045175 11:4023945-4023945
6 STIM1 NM_003156.3(STIM1):c.239A>C (p.Asn80Thr) SNV Pathogenic 189363 rs748277951 11:3988881-3988881 11:3967651-3967651
7 STIM1 NM_003156.3(STIM1):c.343A>T (p.Ile115Phe) SNV Pathogenic 143191 rs527236030 11:4045175-4045175 11:4023945-4023945
8 STIM1 NM_003156.3(STIM1):c.910C>T (p.Arg304Trp) SNV Pathogenic 132887 rs483352867 11:4095850-4095850 11:4074620-4074620
9 STIM1 NM_003156.3(STIM1):c.1452del (p.Ile484fs) Deletion Pathogenic 572186 rs1565171115 11:4104705-4104705 11:4083475-4083475
10 STIM1 NM_003156.3(STIM1):c.700_707del (p.Asn234fs) Deletion Pathogenic 643831 rs1590688717 11:4091342-4091349 11:4070112-4070119
11 LOC112081391 NC_000011.10:g.(?_3856251)_(4091818_?)del Deletion Pathogenic 665042 11:3877481-4113048 11:3856251-4091818
12 STIM1 NM_003156.3(STIM1):c.326A>G (p.His109Arg) SNV Pathogenic 41483 rs397514677 11:4045158-4045158 11:4023928-4023928
13 STIM1 NC_000011.10:g.(?_4059271)_(4059406_?)del Deletion Pathogenic 832877 11:4080501-4080636
14 STIM1 NM_003156.3(STIM1):c.239A>C (p.Asn80Thr) SNV Likely pathogenic 189363 rs748277951 11:3988881-3988881 11:3967651-3967651
15 STIM1 NM_003156.3(STIM1):c.1378T>G (p.Trp460Gly) SNV Uncertain significance 863348 11:4104632-4104632 11:4083402-4083402
16 STIM1 NM_003156.3(STIM1):c.1808C>T (p.Ala603Val) SNV Uncertain significance 864286 11:4112778-4112778 11:4091548-4091548
17 STIM1 NC_000011.10:g.(?_3967532)_(4091818_?)dup Duplication Uncertain significance 831765 11:3988762-4113048
18 STIM1 NC_000011.10:g.(?_3856251)_(4091818_?)dup Duplication Uncertain significance 832904 11:3877481-4113048
19 STIM1 NC_000011.10:g.(?_3856251)_(3856429_?)dup Duplication Uncertain significance 833057 11:3877481-3877659
20 STIM1 NM_003156.3(STIM1):c.658A>G (p.Ile220Val) SNV Uncertain significance 834741 11:4091300-4091300 11:4070070-4070070
21 STIM1 NM_003156.3(STIM1):c.1355C>G (p.Ala452Gly) SNV Uncertain significance 835703 11:4104609-4104609 11:4083379-4083379
22 STIM1 NM_003156.3(STIM1):c.623A>G (p.His208Arg) SNV Uncertain significance 836604 11:4091265-4091265 11:4070035-4070035
23 STIM1 NM_003156.3(STIM1):c.792-3C>A SNV Uncertain significance 836980 11:4095729-4095729 11:4074499-4074499
24 STIM1 NM_003156.3(STIM1):c.1252G>A (p.Glu418Lys) SNV Uncertain significance 837525 11:4104506-4104506 11:4083276-4083276
25 STIM1 NM_003156.3(STIM1):c.1901G>A (p.Arg634Gln) SNV Uncertain significance 838190 11:4112871-4112871 11:4091641-4091641
26 STIM1 NM_003156.3(STIM1):c.1582A>G (p.Ser528Gly) SNV Uncertain significance 842745 11:4112552-4112552 11:4091322-4091322
27 STIM1 NM_003156.3(STIM1):c.1594C>T (p.Arg532Cys) SNV Uncertain significance 847477 11:4112564-4112564 11:4091334-4091334
28 STIM1 NM_003156.3(STIM1):c.872A>G (p.Asn291Ser) SNV Uncertain significance 847753 11:4095812-4095812 11:4074582-4074582
29 STIM1 NM_003156.3(STIM1):c.304A>G (p.Thr102Ala) SNV Uncertain significance 848609 11:4045136-4045136 11:4023906-4023906
30 STIM1 NM_003156.3(STIM1):c.1137+3G>A SNV Uncertain significance 849348 11:4103584-4103584 11:4082354-4082354
31 STIM1 NM_003156.3(STIM1):c.1510A>G (p.Thr504Ala) SNV Uncertain significance 374632 rs200528072 11:4107742-4107742 11:4086512-4086512
32 STIM1 NM_003156.3(STIM1):c.1393C>T (p.Arg465Cys) SNV Uncertain significance 849806 11:4104647-4104647 11:4083417-4083417
33 STIM1 NM_003156.3(STIM1):c.239A>G (p.Asn80Ser) SNV Uncertain significance 849947 11:3988881-3988881 11:3967651-3967651
34 STIM1 NM_003156.3(STIM1):c.1505G>A (p.Arg502His) SNV Uncertain significance 852471 11:4107737-4107737 11:4086507-4086507
35 STIM1 NM_003156.3(STIM1):c.1927C>T (p.Arg643Cys) SNV Uncertain significance 855253 11:4112897-4112897 11:4091667-4091667
36 STIM1 NM_003156.3(STIM1):c.1285C>T (p.Arg429Cys) SNV Uncertain significance 41464 rs397514671 11:4104539-4104539 11:4083309-4083309
37 STIM1 NM_003156.3(STIM1):c.767A>G (p.Gln256Arg) SNV Uncertain significance 806603 rs201576757 11:4091409-4091409 11:4070179-4070179
38 STIM1 NM_003156.3(STIM1):c.1501C>A (p.Gln501Lys) SNV Uncertain significance 857902 11:4107733-4107733 11:4086503-4086503
39 STIM1 NM_003156.3(STIM1):c.1447G>A (p.Glu483Lys) SNV Uncertain significance 858407 11:4104701-4104701 11:4083471-4083471
40 STIM1 NM_003156.3(STIM1):c.1607A>G (p.Lys536Arg) SNV Uncertain significance 859464 11:4112577-4112577 11:4091347-4091347
41 STIM1 NM_003156.3(STIM1):c.1459C>T (p.Pro487Ser) SNV Uncertain significance 860737 11:4104713-4104713 11:4083483-4083483
42 STIM1 NM_003156.3(STIM1):c.1780C>T (p.His594Tyr) SNV Uncertain significance 860940 11:4112750-4112750 11:4091520-4091520
43 STIM1 NM_003156.3(STIM1):c.1619T>C (p.Met540Thr) SNV Uncertain significance 658000 rs1390592487 11:4112589-4112589 11:4091359-4091359
44 STIM1 NM_003156.3(STIM1):c.1668C>G (p.Ser556Arg) SNV Uncertain significance 658650 rs201543900 11:4112638-4112638 11:4091408-4091408
45 STIM1 NM_003156.3(STIM1):c.182A>G (p.Glu61Gly) SNV Uncertain significance 663469 rs202160755 11:3988824-3988824 11:3967594-3967594
46 STIM1 NM_003156.3(STIM1):c.1504C>T (p.Arg502Cys) SNV Uncertain significance 665131 rs149456514 11:4107736-4107736 11:4086506-4086506
47 STIM1 NM_003156.3(STIM1):c.1894G>A (p.Asp632Asn) SNV Uncertain significance 665790 rs369549218 11:4112864-4112864 11:4091634-4091634
48 STIM1 NM_003156.3(STIM1):c.196G>A (p.Glu66Lys) SNV Uncertain significance 666040 rs199799231 11:3988838-3988838 11:3967608-3967608
49 STIM1 NM_003156.3(STIM1):c.295C>G (p.His99Asp) SNV Uncertain significance 666068 rs1440304974 11:4045127-4045127 11:4023897-4023897
50 STIM1 NM_001382567.1(STIM1):c.1186G>A (p.Val396Met) SNV Uncertain significance 934559 11:4104160-4104160 11:4082930-4082930

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

73 (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

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:

36
# Name Kegg Source Accession
1 Calcium signaling pathway hsa04020
2 Platelet activation hsa04611

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

# Super pathways Score Top Affiliating Genes
1 11.3 STIM2 STIM1 ORAI1 CASQ1
2 11.23 STIM1 ORAI1 GP9

GO Terms for Myopathy, Tubular Aggregate, 1

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

# Name GO ID Score Top Affiliating Genes
1 sarcoplasmic reticulum membrane GO:0033017 9.16 STIM1 CASQ1
2 plasma membrane raft GO:0044853 8.96 STIM1 ORAI1
3 smooth endoplasmic reticulum GO:0005790 8.62 PPIB CASQ1

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

# Name GO ID Score Top Affiliating Genes
1 calcium ion transport GO:0006816 9.54 STIM2 STIM1 ORAI1
2 calcium ion transmembrane transport GO:0070588 9.5 STIM2 STIM1 ORAI1
3 regulation of calcium ion transport GO:0051924 9.43 STIM1 ORAI1
4 positive regulation of calcium ion transport GO:0051928 9.4 STIM2 ORAI1
5 regulation of store-operated calcium entry GO:2001256 9.26 STIM1 CASQ1
6 positive regulation of adenylate cyclase activity GO:0045762 9.16 STIM1 ORAI1
7 activation of store-operated calcium channel activity GO:0032237 8.96 STIM2 STIM1
8 store-operated calcium entry GO:0002115 8.8 STIM2 STIM1 ORAI1

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

# Name GO ID Score Top Affiliating Genes
1 metal ion binding GO:0046872 9.61 ZNF629 ZNF569 ZNF501 ZNF44 ZNF436 STIM2
2 calcium channel regulator activity GO:0005246 9.16 STIM2 STIM1
3 store-operated calcium channel activity GO:0015279 8.8 STIM2 STIM1 ORAI1

Sources for Myopathy, Tubular Aggregate, 1

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-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....