TAM1
MCID: MYP087
MIFTS: 53

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 56 73 29 6 71
Tubular Aggregate Myopathy 56 52 25 58 73 36 15 71
Myopathy, Tubular Aggregate 56 52 13
Tam 56 25 73
Myopathy with Tubular Aggregates 25 6
Tam1 56 73
Myopathy, Tubular Aggregates, Type 1 39
Myopathy, Tubular Aggregate; Tam 56
Tubular Aggregate Myopathy 1 12
Myopathy, Tubular Aggregates 39

Characteristics:

Orphanet epidemiological data:

58
tubular aggregate myopathy
Inheritance: Autosomal dominant;

OMIM:

56
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 56 160565
OMIM Phenotypic Series 56 PS160565
KEGG 36 H02258
MeSH 43 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

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. 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 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, eye and bone, and related phenotypes are myalgia and emg: myopathic abnormalities

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.

NIH Rare Diseases : 52 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 : 56 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)

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 171)
# Related Disease Score Top Affiliating Genes
1 stormorken syndrome 32.0 SYPL2 STIM2 STIM1 SARAF ORAI3 ORAI2
2 myopathy 30.0 STIM1 RYR1 ORAI1 GFPT1 DOK7 CASQ1
3 neuromuscular disease 29.8 RYR1 GFPT1 DOK7 ATP2A1
4 myeloproliferative syndrome, transient 12.3
5 skeletal muscle disease 10.4 RYR1 CASQ1
6 autoimmune disease 10.4
7 ichthyosis 10.3
8 dyslexia 10.3
9 nondisjunction 10.3
10 pityriasis versicolor 10.3
11 colorectal cancer 10.3
12 pik3ca-related overgrowth syndrome 10.3
13 amelogenesis imperfecta, type iiia 10.2 STIM2 STIM1 ORAI2
14 down syndrome 10.2
15 adenocarcinoma 10.2
16 glioma 10.2
17 glial tumor 10.2
18 muscular atrophy 10.2
19 periodic paralysis 10.2
20 thrombocytopenia 10.2
21 arrhythmogenic right ventricular dysplasia, familial, 2 10.2 TRDN RYR1
22 catecholaminergic polymorphic ventricular tachycardia 10.2 TRDN RYR1 CASQ1
23 breast cancer 10.2
24 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 10.2
25 gastric cancer 10.2
26 glioblastoma multiforme 10.2
27 malignant hyperthermia susceptibility 10.2 RYR1 CASQ1
28 myopathy, congenital 10.1
29 gyrate atrophy of choroid and retina 10.1
30 ptosis 10.1
31 dysphagia 10.1
32 myasthenic syndrome, congenital, 21, presynaptic 10.1 GFPT1 DOK7
33 kearns-sayre syndrome 10.1
34 atrophic muscular disease 10.1 RYR1 JSRP1 CASQ1 ATP2A1
35 pulmonary fibrosis, idiopathic 10.1
36 lung cancer 10.1
37 pancreatic cancer 10.1
38 leukemia 10.1
39 vaginal discharge 10.1
40 pulmonary fibrosis 10.1
41 myeloid leukemia 10.1
42 cytokine deficiency 10.1
43 combined t cell and b cell immunodeficiency 10.1 STIM2 STIM1 ORAI3 ORAI2 ORAI1
44 congenital fiber-type disproportion 10.0 TRDN RYR1 QDPR JSRP1
45 hepatocellular carcinoma 10.0
46 hair whorl 10.0
47 systemic lupus erythematosus 10.0
48 osteogenic sarcoma 10.0
49 leukemia, acute myeloid 10.0
50 endometrial cancer 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 myalgia 58 31 hallmark (90%) Very frequent (99-80%) HP:0003326
2 emg: myopathic abnormalities 58 31 hallmark (90%) Very frequent (99-80%) HP:0003458
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 flexion contracture 31 occasional (7.5%) HP:0001371
10 respiratory insufficiency 31 occasional (7.5%) HP:0002093
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:

56
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

UMLS symptoms related to Myopathy, Tubular Aggregate, 1:


exercise-induced myalgia, muscular stiffness

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

45
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.73 ATP2A1 CASQ1 CRACR2A DOK7 GFPT1 JSRP1
2 muscle MP:0005369 9.32 ATP2A1 CASQ1 DOK7 GFPT1 JSRP1 RYR1

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, 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, Bone, Spleen, Skin

Publications for Myopathy, Tubular Aggregate, 1

Articles related to Myopathy, Tubular Aggregate, 1:

(show top 50) (show all 59)
# Title Authors PMID Year
1
Clinical, histological and genetic characterisation of patients with tubular aggregate myopathy caused by mutations in STIM1. 6 56 61
25326555 2014
2
Childhood onset tubular aggregate myopathy associated with de novo STIM1 mutations. 61 56 6
24570283 2014
3
Constitutive activation of the calcium sensor STIM1 causes tubular-aggregate myopathy. 61 56 6
23332920 2013
4
Dominantly inherited tubular aggregate myopathy. 61 56
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. 56
11547948 2001
11
On a dominantly inherited myopathy with tubular aggregates. 56
9447609 1997
12
Familial neuromuscular disease with tubular aggregates. 56
16758595 1985
13
Tubular aggregates: sarcoplasmic reticulum origin, calcium storage ability, and functional implications. 56
16758596 1985
14
A dominantly inherited myopathy with excessive tubular aggregates. 56
6681878 1983
15
MITOCHONDRIAL AGGREGATES IN MUSCLE DISEASE. 56
14187309 1964
16
Luminal STIM1 Mutants that Cause Tubular Aggregate Myopathy Promote Autophagic Processes. 61
32575830 2020
17
Chronic Thrombocytopenia as the Initial Manifestation of STIM1-Related Disorders. 61
32234795 2020
18
Cylindrical spirals in two families: Clinical and genetic investigations. 61
31952901 2020
19
Tubular aggregate myopathy and Stormorken syndrome: Mutation spectrum and genotype/phenotype correlation. 61
31448844 2020
20
A luminal EF-hand mutation in STIM1 in mice causes the clinical hallmarks of tubular aggregate myopathy. 61
31666234 2019
21
Sequential activation of STIM1 links Ca2+ with luminal domain unfolding. 61
31744929 2019
22
Sweat retention anhidrosis associated with tubular aggregate myopathy. 61
31145807 2019
23
CRAC channels and disease - From human CRAC channelopathies and animal models to novel drugs. 61
31009822 2019
24
STIM1 over-activation generates a multi-systemic phenotype affecting the skeletal muscle, spleen, eye, skin, bones and immune system in mice. 61
30576443 2019
25
ORAI1 channel gating and selectivity is differentially altered by natural mutations in the first or third transmembrane domain. 61
30382595 2019
26
Gain-of-function mutations in STIM1 and ORAI1 causing tubular aggregate myopathy and Stormorken syndrome. 61
30243034 2018
27
[Tubular aggregate myopathy and Stormorken syndrome]. 61
30418142 2018
28
Disturbed Ca2+ Homeostasis in Muscle-Wasting Disorders. 61
30390258 2018
29
CASQ1 mutations impair calsequestrin polymerization and cause tubular aggregate myopathy. 61
29039140 2018
30
Stormorken Syndrome Caused by a p.R304W STIM1 Mutation: The First Italian Patient and a Review of the Literature. 61
30374325 2018
31
Identification and characterization of three novel mutations in the CASQ1 gene in four patients with tubular aggregate myopathy. 61
28895244 2017
32
Complex phenotypes associated with STIM1 mutations in both coiled coil and EF-hand domains. 61
28624464 2017
33
Mutations in GFPT1-related congenital myasthenic syndromes are associated with synaptic morphological defects and underlie a tubular aggregate myopathy with synaptopathy. 61
28712002 2017
34
A novel gain-of-function mutation in ORAI1 causes late-onset tubular aggregate myopathy and congenital miosis. 61
27882542 2017
35
ORAI1 Mutations with Distinct Channel Gating Defects in Tubular Aggregate Myopathy. 61
28058752 2017
36
Tubular aggregate myopathy with features of Stormorken disease due to a new STIM1 mutation. 61
27876257 2017
37
Molecular Determinants for STIM1 Activation During Store- Operated Ca2+ Entry. 61
28231751 2017
38
Calcium Dyshomeostasis in Tubular Aggregate Myopathy. 61
27879676 2016
39
[Tubular aggregate myopathy: report of a case]. 61
27142922 2016
40
Tubular aggregate myopathy caused by a novel mutation in the cytoplasmic domain of STIM1. 61
27066587 2016
41
Use of Whole-Exome Sequencing for Diagnosis of Limb-Girdle Muscular Dystrophy: Outcomes and Lessons Learned. 61
26436962 2015
42
Muscle imaging in patients with tubular aggregate myopathy caused by mutations in STIM1. 61
26255678 2015
43
Diseases caused by mutations in ORAI1 and STIM1. 61
26469693 2015
44
50 years to diagnosis: Autosomal dominant tubular aggregate myopathy caused by a novel STIM1 mutation. 61
25953320 2015
45
Dominant mutations in ORAI1 cause tubular aggregate myopathy with hypocalcemia via constitutive activation of store-operated Ca²⁺ channels. 61
25227914 2015
46
A dominant STIM1 mutation causes Stormorken syndrome. 61
24619930 2014
47
Activating mutations in STIM1 and ORAI1 cause overlapping syndromes of tubular myopathy and congenital miosis. 61
24591628 2014
48
Muscle MR imaging in tubular aggregate myopathy. 61
24722334 2014
49
Tubular aggregate myopathy: a phenotypic spectrum and morphological study. 61
21045502 2010
50
Autosomal recessive tubular aggregate myopathy in an Indian family. 61
18684652 2009

Variations for Myopathy, Tubular Aggregate, 1

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

6 (show top 50) (show all 143) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 STIM1 NM_003156.3(STIM1):c.1452del (p.Ile484fs)deletion Pathogenic 572186 rs1565171115 11:4104705-4104705 11:4083475-4083475
2 STIM1 NM_003156.3(STIM1):c.700_707del (p.Asn234fs)deletion Pathogenic 643831 11:4091342-4091349 11:4070112-4070119
3 STIM1 NC_000011.10:g.(?_3856251)_(4091818_?)deldeletion Pathogenic 665042 11:3877481-4113048 11:3856251-4091818
4 STIM1 NC_000011.10:g.(?_4059271)_(4059406_?)deldeletion Pathogenic 832877 11:4080501-4080636
5 STIM1 NM_003156.3(STIM1):c.251A>G (p.Asp84Gly)SNV Pathogenic 41481 rs397514675 11:3988893-3988893 11:3967663-3967663
6 STIM1 NM_003156.3(STIM1):c.325C>A (p.His109Asn)SNV Pathogenic 41482 rs397514676 11:4045157-4045157 11:4023927-4023927
7 STIM1 NM_003156.3(STIM1):c.326A>G (p.His109Arg)SNV Pathogenic 41483 rs397514677 11:4045158-4045158 11:4023928-4023928
8 STIM1 NM_003156.3(STIM1):c.216C>A (p.His72Gln)SNV Pathogenic 41484 rs397515436 11:3988858-3988858 11:3967628-3967628
9 STIM1 NM_003156.3(STIM1):c.910C>T (p.Arg304Trp)SNV Pathogenic 132887 rs483352867 11:4095850-4095850 11:4074620-4074620
10 STIM1 NM_003156.3(STIM1):c.343A>T (p.Ile115Phe)SNV Pathogenic 143191 rs527236030 11:4045175-4045175 11:4023945-4023945
11 STIM1 NM_003156.3(STIM1):c.239A>C (p.Asn80Thr)SNV Likely pathogenic 189363 rs748277951 11:3988881-3988881 11:3967651-3967651
12 STIM1 NM_003156.3(STIM1):c.1571C>T (p.Ser524Phe)SNV Conflicting interpretations of pathogenicity 235347 rs141215990 11:4112541-4112541 11:4091311-4091311
13 STIM1 NM_003156.3(STIM1):c.1928G>A (p.Arg643His)SNV Conflicting interpretations of pathogenicity 258976 rs140080199 11:4112898-4112898 11:4091668-4091668
14 STIM1 NM_003156.3(STIM1):c.792-8C>TSNV Conflicting interpretations of pathogenicity 706301 11:4095724-4095724 11:4074494-4074494
15 STIM1 NM_003156.3(STIM1):c.1588C>T (p.Arg530Cys)SNV Conflicting interpretations of pathogenicity 461723 rs142239530 11:4112558-4112558 11:4091328-4091328
16 STIM1 NM_003156.3(STIM1):c.1291C>A (p.Gln431Lys)SNV Uncertain significance 530878 rs199666087 11:4104545-4104545 11:4083315-4083315
17 STIM1 NM_003156.3(STIM1):c.1382T>C (p.Met461Thr)SNV Uncertain significance 530879 rs1444907403 11:4104636-4104636 11:4083406-4083406
18 STIM1 NM_003156.3(STIM1):c.792-3deldeletion Uncertain significance 656457 11:4095723-4095723 11:4074493-4074493
19 STIM1 NM_003156.3(STIM1):c.818G>A (p.Arg273His)SNV Uncertain significance 657193 11:4095758-4095758 11:4074528-4074528
20 STIM1 NM_003156.3(STIM1):c.1337G>A (p.Gly446Asp)SNV Uncertain significance 643781 11:4104591-4104591 11:4083361-4083361
21 STIM1 NM_003156.3(STIM1):c.1504C>T (p.Arg502Cys)SNV Uncertain significance 665131 11:4107736-4107736 11:4086506-4086506
22 STIM1 NM_003156.3(STIM1):c.1556C>A (p.Ser519Tyr)SNV Uncertain significance 654839 11:4112526-4112526 11:4091296-4091296
23 STIM1 NM_003156.3(STIM1):c.1558G>A (p.Asp520Asn)SNV Uncertain significance 648477 11:4112528-4112528 11:4091298-4091298
24 STIM1 NM_003156.3(STIM1):c.1619T>C (p.Met540Thr)SNV Uncertain significance 658000 11:4112589-4112589 11:4091359-4091359
25 STIM1 NM_003156.3(STIM1):c.1636G>A (p.Glu546Lys)SNV Uncertain significance 647713 11:4112606-4112606 11:4091376-4091376
26 STIM1 NM_003156.3(STIM1):c.1664G>A (p.Gly555Asp)SNV Uncertain significance 641926 11:4112634-4112634 11:4091404-4091404
27 STIM1 NM_003156.3(STIM1):c.1668C>G (p.Ser556Arg)SNV Uncertain significance 658650 11:4112638-4112638 11:4091408-4091408
28 STIM1 NM_003156.3(STIM1):c.1745C>T (p.Ala582Val)SNV Uncertain significance 649175 11:4112715-4112715 11:4091485-4091485
29 STIM1 NM_003156.3(STIM1):c.1794G>C (p.Glu598Asp)SNV Uncertain significance 649990 11:4112764-4112764 11:4091534-4091534
30 STIM1 NM_003156.3(STIM1):c.1894G>A (p.Asp632Asn)SNV Uncertain significance 665790 11:4112864-4112864 11:4091634-4091634
31 STIM1 NM_003156.3(STIM1):c.1961C>T (p.Ala654Val)SNV Uncertain significance 645851 11:4112931-4112931 11:4091701-4091701
32 STIM1 NM_003156.3(STIM1):c.1581G>A (p.Met527Ile)SNV Uncertain significance 569772 rs146111967 11:4112551-4112551 11:4091321-4091321
33 STIM1 NM_003156.3(STIM1):c.1607A>G (p.Lys536Arg)SNV Uncertain significance 859464 rs140122024 11:4112577-4112577 11:4091347-4091347
34 STIM1 NM_003156.3(STIM1):c.1954G>T (p.Ala652Ser)SNV Uncertain significance 567939 rs201992816 11:4112924-4112924 11:4091694-4091694
35 STIM1 NM_003156.3(STIM1):c.1541+319G>ASNV Uncertain significance 626025 rs118128831 11:4108092-4108092 11:4086862-4086862
36 STIM1 NM_003156.3(STIM1):c.146G>A (p.Cys49Tyr)SNV Uncertain significance 645596 11:3988788-3988788 11:3967558-3967558
37 STIM1 NM_003156.3(STIM1):c.182A>G (p.Glu61Gly)SNV Uncertain significance 663469 11:3988824-3988824 11:3967594-3967594
38 STIM1 NM_003156.3(STIM1):c.196G>A (p.Glu66Lys)SNV Uncertain significance 666040 11:3988838-3988838 11:3967608-3967608
39 STIM1 NM_003156.3(STIM1):c.295C>G (p.His99Asp)SNV Uncertain significance 666068 11:4045127-4045127 11:4023897-4023897
40 STIM1 NM_003156.3(STIM1):c.392A>G (p.Asn131Ser)SNV Uncertain significance 646975 11:4076762-4076762 11:4055532-4055532
41 STIM1 NM_003156.3(STIM1):c.398C>T (p.Thr133Ile)SNV Uncertain significance 649321 11:4076768-4076768 11:4055538-4055538
42 STIM1 NM_003156.3(STIM1):c.406G>A (p.Glu136Lys)SNV Uncertain significance 649393 11:4076776-4076776 11:4055546-4055546
43 STIM1 NM_003156.3(STIM1):c.580G>T (p.Ala194Ser)SNV Uncertain significance 648646 11:4080593-4080593 11:4059363-4059363
44 STIM1 NM_003156.3(STIM1):c.1334C>T (p.Pro445Leu)SNV Uncertain significance 461719 rs925534511 11:4104588-4104588 11:4083358-4083358
45 STIM1 NM_003156.3(STIM1):c.340C>T (p.Leu114Phe)SNV Uncertain significance 461732 rs201767533 11:4045172-4045172 11:4023942-4023942
46 STIM1 NM_003156.3(STIM1):c.9A>G (p.Val3=)SNV Uncertain significance 530876 rs765248656 11:3877509-3877509 11:3856279-3856279
47 STIM1 NM_003156.3(STIM1):c.473A>C (p.Gln158Pro)SNV Uncertain significance 530881 rs899854132 11:4076843-4076843 11:4055613-4055613
48 STIM1 NM_003156.3(STIM1):c.1672C>T (p.Arg558Trp)SNV Uncertain significance 452077 rs747547917 11:4112642-4112642 11:4091412-4091412
49 STIM1 NM_003156.3(STIM1):c.57G>C (p.Gln19His)SNV Uncertain significance 461736 rs1554949765 11:3877557-3877557 11:3856327-3856327
50 STIM1 NM_003156.3(STIM1):c.488C>A (p.Ala163Asp)SNV Uncertain significance 461735 rs199893056 11:4076858-4076858 11:4055628-4055628

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
Show member pathways
12.36 TRDN STIM1 RYR1 ORAI2 ORAI1 ATP2A1
2
Show member pathways
12.15 TRPC4 TRPC3 TRDN RYR1 ATP2A1
3 11.73 TRPC3 RYR1 ATP2A1
4 11.68 STIM2 STIM1 RYR1
5
Show member pathways
11.63 TRPC3 STIM1 ORAI2 ORAI1 ATP2A1
6
Show member pathways
11.58 TRDN STIM2 STIM1 RYR1 ORAI3 ORAI2
7
Show member pathways
11.57 STIM1 ORAI2 ORAI1
8 10.85 TRPC4 TRPC3
9 10.4 RYR1 ATP2A1

GO Terms for Myopathy, Tubular Aggregate, 1

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

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 integral component of membrane GO:0016021 10.32 TRPC4 TRPC3 TRDN SYPL2 STIM2 STIM1
2 membrane GO:0016020 10.3 TRPC4 TRPC3 TRDN SYPL2 STIM2 STIM1
3 endoplasmic reticulum GO:0005783 10.03 TRDN STIM2 STIM1 SARAF JSRP1 ESYT1
4 endoplasmic reticulum membrane GO:0005789 10 STIM2 STIM1 SARAF JSRP1 ESYT1 ATP2A1
5 cell GO:0005623 9.97 TRPC4 TRPC3 TRDN SYPL2 STIM2 STIM1
6 integral component of endoplasmic reticulum membrane GO:0030176 9.71 STIM1 SARAF ESYT1
7 smooth endoplasmic reticulum GO:0005790 9.56 RYR1 CASQ1
8 I band GO:0031674 9.55 RYR1 CASQ1
9 cation channel complex GO:0034703 9.49 TRPC4 TRPC3
10 junctional sarcoplasmic reticulum membrane GO:0014701 9.48 TRDN RYR1
11 junctional membrane complex GO:0030314 9.46 TRDN RYR1
12 calcium channel complex GO:0034704 9.46 TRPC4 RYR1 ORAI1 ATP2A1
13 sarcoplasmic reticulum lumen GO:0033018 9.43 TRDN SRL CASQ1
14 sarcoplasmic reticulum membrane GO:0033017 9.43 TRDN STIM1 RYR1 JSRP1 CASQ1 ATP2A1
15 terminal cisterna GO:0014802 9.4 RYR1 CASQ1
16 sarcoplasmic reticulum GO:0016529 9.17 TRDN STIM1 SRL RYR1 JSRP1 CASQ1

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

(show all 18)
# Name GO ID Score Top Affiliating Genes
1 ion transport GO:0006811 10.01 TRPC4 TRPC3 STIM1 SARAF RYR1 ORAI1
2 ion transmembrane transport GO:0034220 9.85 TRDN RYR1 CASQ1 ATP2A1
3 calcium ion transport GO:0006816 9.76 TRPC4 TRPC3 STIM1 SARAF RYR1 ORAI1
4 cellular calcium ion homeostasis GO:0006874 9.73 TRDN SYPL2 STIM2 STIM1 RYR1 ATP2A1
5 regulation of cardiac conduction GO:1903779 9.72 TRDN STIM1 RYR1 CASQ1 ATP2A1
6 regulation of cytosolic calcium ion concentration GO:0051480 9.67 TRPC4 TRPC3 RYR1
7 positive regulation of calcium ion transport GO:0051928 9.65 STIM2 ORAI1 CRACR2A
8 calcium ion import GO:0070509 9.63 TRPC4 ORAI1 ATP2A1
9 regulation of store-operated calcium entry GO:2001256 9.61 STIM1 SARAF CASQ1
10 calcium ion transmembrane transport GO:0070588 9.61 TRPC4 TRPC3 STIM2 STIM1 RYR1 ORAI3
11 regulation of calcium ion transport GO:0051924 9.58 STIM1 ORAI1
12 regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum GO:0010880 9.57 TRDN CASQ1
13 regulation of release of sequestered calcium ion into cytosol GO:0051279 9.56 TRDN CASQ1
14 manganese ion transport GO:0006828 9.54 TRPC4 TRPC3
15 activation of store-operated calcium channel activity GO:0032237 9.54 STIM2 STIM1 CRACR2A
16 positive regulation of adenylate cyclase activity GO:0045762 9.52 STIM1 ORAI1
17 release of sequestered calcium ion into cytosol by sarcoplasmic reticulum GO:0014808 9.51 TRDN RYR1
18 store-operated calcium entry GO:0002115 9.1 STIM2 STIM1 ORAI3 ORAI2 ORAI1 CRACR2A

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 STIM2 STIM1 RYR1 ESYT1 CRACR2A CASQ1
2 calcium channel activity GO:0005262 9.46 TRPC4 TRPC3 RYR1 ORAI1
3 inositol 1,4,5 trisphosphate binding GO:0070679 9.26 TRPC4 TRPC3
4 store-operated calcium channel activity GO:0015279 9.17 TRPC4 TRPC3 STIM2 STIM1 ORAI3 ORAI2

Sources for Myopathy, Tubular Aggregate, 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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