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 74 72
Tubular Aggregate Myopathy 57 12 53 25 59 74 37 15 72
Myopathy with Tubular Aggregates 25 29 6
Myopathy, Tubular Aggregate 57 53 13
Tam 57 25 74
Tam1 57 74
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:
Inheritance autosomal dominant inheritance
Onset and clinical course adult onset slow progression


Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0080089
KEGG 37 H02258
MeSH 44 D020914
ICD10 via Orphanet 34 G71.2
UMLS via Orphanet 73 C0410207
Orphanet 59 ORPHA2593
UMLS 72 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 ptosis and neuromuscular 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, skin and bone, and related phenotypes are fatiguable weakness of proximal limb muscles and myalgia

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 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)

KEGG : 37
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 : 74 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 169)
# Related Disease Score Top Affiliating Genes
1 ptosis 30.3 RYR1 PABPN1 DOK7
2 neuromuscular disease 30.1 RYR1 PABPN1 EMD
3 myopathy 29.9 STIM1 RYR1 FLNC EMD ACTA1
4 stormorken syndrome 29.8 STIM2 STIM1 ORAI1 CASQ1
5 congenital myasthenic syndrome 29.7 RYR1 GFPT1 DOK7
6 myeloproliferative syndrome, transient 12.3
7 atrophic muscular disease 10.4 RYR1 ATP2A1
8 myopathy, congenital, bailey-bloch 10.4 RYR1 QDPR
9 central core myopathy 10.4 RYR1 QDPR
10 autoimmune disease 10.4
11 familial periodic paralysis 10.3 RYR1 QDPR
12 myopathy, proximal, and ophthalmoplegia 10.3 RYR1 EMD
13 brody myopathy 10.3 RYR1 ATP2A1
14 malignant hyperthermia 10.3 RYR1 QDPR CASQ1
15 nondisjunction 10.3
16 pityriasis versicolor 10.3
17 down syndrome 10.2
18 adenocarcinoma 10.2
19 glioblastoma multiforme 10.2
20 glioblastoma 10.2
21 glioma 10.2
22 glial tumor 10.2
23 pik3ca-related overgrowth syndrome 10.2
24 muscular atrophy 10.2
25 periodic paralysis 10.2
26 thrombocytopenia 10.2
27 ichthyosis 10.2
28 dyslexia 10.2
29 breast cancer 10.2
30 colorectal cancer 10.2
31 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 10.2
32 gastric cancer 10.2
33 leukemia 10.2
34 congenital structural myopathy 10.2 RYR1 ACTA1
35 muscle tissue disease 10.1 RYR1 PABPN1 EMD
36 autosomal dominant limb-girdle muscular dystrophy 10.1 FLNC EMD
37 myopathy, congenital 10.1
38 gyrate atrophy of choroid and retina 10.1
39 dysphagia 10.1
40 kearns-sayre syndrome 10.1
41 pulmonary fibrosis, idiopathic 10.1
42 pancreatic cancer 10.1
43 idiopathic interstitial pneumonia 10.1
44 vaginal discharge 10.1
45 pulmonary fibrosis 10.1
46 cytokine deficiency 10.1
47 congenital fiber-type disproportion 10.1 RYR1 EMD ACTA1
48 catecholaminergic polymorphic ventricular tachycardia 10.0 TRDN RYR1 CALR
49 myopathy, myofibrillar, 2 10.0 FLNC ACTA1
50 hair whorl 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:

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

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

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 9.77 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

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, Skin, Bone, Spleen, Eye

Publications for Myopathy, Tubular Aggregate, 1

Articles related to Myopathy, Tubular Aggregate, 1:

(show top 50) (show all 53)
# Title Authors PMID Year
1
Clinical, histological and genetic characterisation of patients with tubular aggregate myopathy caused by mutations in STIM1. 38 8 71
25326555 2014
2
Childhood onset tubular aggregate myopathy associated with de novo STIM1 mutations. 38 8 71
24570283 2014
3
Constitutive activation of the calcium sensor STIM1 causes tubular-aggregate myopathy. 38 8 71
23332920 2013
4
Dominantly inherited tubular aggregate myopathy. 38 8
1484321 1992
5
York platelet syndrome is a CRAC channelopathy due to gain-of-function mutations in STIM1. 71
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. 71
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. 71
12944248 2003
8
Giant electron-dense chains, clusters and granules in megakaryocytes and platelets with normal dense bodies: an inherited thrombocytopenic disorder. 71
12745453 2003
9
Giant electron-dense chains, clusters and granules in megakaryocytes and platelets with normal dense bodies: an inherited thrombocytopenic disorder I. Megakaryocytes. 71
12623447 2003
10
Dominantly inherited myopathy with novel tubular aggregates containing 1-21 tubulofilamentous structures. 8
11547948 2001
11
On a dominantly inherited myopathy with tubular aggregates. 8
9447609 1997
12
Familial neuromuscular disease with tubular aggregates. 8
16758595 1985
13
Tubular aggregates: sarcoplasmic reticulum origin, calcium storage ability, and functional implications. 8
16758596 1985
14
A dominantly inherited myopathy with excessive tubular aggregates. 8
6681878 1983
15
MITOCHONDRIAL AGGREGATES IN MUSCLE DISEASE. 8
14187309 1964
16
CRAC channels and disease - From human CRAC channelopathies and animal models to novel drugs. 38
31009822 2019
17
STIM1 over-activation generates a multi-systemic phenotype affecting the skeletal muscle, spleen, eye, skin, bones and immune system in mice. 38
30576443 2019
18
Sweat retention anhidrosis associated with tubular aggregate myopathy. 38
31145807 2019
19
ORAI1 channel gating and selectivity is differentially altered by natural mutations in the first or third transmembrane domain. 38
30382595 2019
20
Gain-of-function mutations in STIM1 and ORAI1 causing tubular aggregate myopathy and Stormorken syndrome. 38
30243034 2018
21
[Tubular aggregate myopathy and Stormorken syndrome]. 38
30418142 2018
22
Disturbed Ca2+ Homeostasis in Muscle-Wasting Disorders. 38
30390258 2018
23
CASQ1 mutations impair calsequestrin polymerization and cause tubular aggregate myopathy. 38
29039140 2018
24
Stormorken Syndrome Caused by a p.R304W STIM1 Mutation: The First Italian Patient and a Review of the Literature. 38
30374325 2018
25
Identification and characterization of three novel mutations in the CASQ1 gene in four patients with tubular aggregate myopathy. 38
28895244 2017
26
Complex phenotypes associated with STIM1 mutations in both coiled coil and EF-hand domains. 38
28624464 2017
27
Mutations in GFPT1-related congenital myasthenic syndromes are associated with synaptic morphological defects and underlie a tubular aggregate myopathy with synaptopathy. 38
28712002 2017
28
A novel gain-of-function mutation in ORAI1 causes late-onset tubular aggregate myopathy and congenital miosis. 38
27882542 2017
29
ORAI1 Mutations with Distinct Channel Gating Defects in Tubular Aggregate Myopathy. 38
28058752 2017
30
Tubular aggregate myopathy with features of Stormorken disease due to a new STIM1 mutation. 38
27876257 2017
31
Molecular Determinants for STIM1 Activation During Store- Operated Ca2+ Entry. 38
28231751 2017
32
Calcium Dyshomeostasis in Tubular Aggregate Myopathy. 38
27879676 2016
33
[Tubular aggregate myopathy: report of a case]. 38
27142922 2016
34
Tubular aggregate myopathy caused by a novel mutation in the cytoplasmic domain of STIM1. 38
27066587 2016
35
Use of Whole-Exome Sequencing for Diagnosis of Limb-Girdle Muscular Dystrophy: Outcomes and Lessons Learned. 38
26436962 2015
36
Diseases caused by mutations in ORAI1 and STIM1. 38
26469693 2015
37
Muscle imaging in patients with tubular aggregate myopathy caused by mutations in STIM1. 38
26255678 2015
38
50 years to diagnosis: Autosomal dominant tubular aggregate myopathy caused by a novel STIM1 mutation. 38
25953320 2015
39
Dominant mutations in ORAI1 cause tubular aggregate myopathy with hypocalcemia via constitutive activation of store-operated Ca²⁺ channels. 38
25227914 2015
40
A dominant STIM1 mutation causes Stormorken syndrome. 38
24619930 2014
41
Activating mutations in STIM1 and ORAI1 cause overlapping syndromes of tubular myopathy and congenital miosis. 38
24591628 2014
42
Muscle MR imaging in tubular aggregate myopathy. 38
24722334 2014
43
Tubular aggregate myopathy: a phenotypic spectrum and morphological study. 38
21045502 2010
44
Autosomal recessive tubular aggregate myopathy in an Indian family. 38
18684652 2009
45
Tubular aggregate myopathy: a rare form of myopathy. 38
18824361 2008
46
Tubular aggregate myopathy associated with retinal degeneration. 38
18443606 2008
47
Tubular aggregate myopathy presenting with acute type II respiratory failure and severe orthopnoea. 38
16396955 2006
48
The origin of tubular aggregates in human myopathies. 38
16178054 2005
49
Familial myopathy with tubular aggregates associated with abnormal pupils. 38
15452313 2004
50
Tubular aggregates are from whole sarcoplasmic reticulum origin: alterations in calcium binding protein expression in mouse skeletal muscle during aging. 38
15036331 2004

Variations for Myopathy, Tubular Aggregate, 1

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

6 (show top 50) (show all 99)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 STIM1 NM_003156.3(STIM1): c.251A> G (p.Asp84Gly) single nucleotide variant Pathogenic rs397514675 11:3988893-3988893 11:3967663-3967663
2 STIM1 NM_003156.3(STIM1): c.325C> A (p.His109Asn) single nucleotide variant Pathogenic rs397514676 11:4045157-4045157 11:4023927-4023927
3 STIM1 NM_003156.3(STIM1): c.326A> G (p.His109Arg) single nucleotide variant Pathogenic rs397514677 11:4045158-4045158 11:4023928-4023928
4 STIM1 NM_003156.3(STIM1): c.216C> A (p.His72Gln) single nucleotide variant Pathogenic rs397515436 11:3988858-3988858 11:3967628-3967628
5 STIM1 NM_003156.3(STIM1): c.910C> T (p.Arg304Trp) single nucleotide variant Pathogenic rs483352867 11:4095850-4095850 11:4074620-4074620
6 STIM1 NM_003156.3(STIM1): c.343A> T (p.Ile115Phe) single nucleotide variant Pathogenic rs527236030 11:4045175-4045175 11:4023945-4023945
7 STIM1 NM_003156.3(STIM1): c.239A> C (p.Asn80Thr) single nucleotide variant Pathogenic rs748277951 11:3988881-3988881 11:3967651-3967651
8 STIM1 NM_003156.3(STIM1): c.1452del (p.Ile484fs) deletion Pathogenic 11:4104706-4104706 11:4083476-4083476
9 STIM1 NM_003156.3(STIM1): c.700_707del (p.Asn234fs) deletion Pathogenic 11:4091342-4091349 11:4070112-4070119
10 STIM1 NC_000011.9: g.(?_3877481)_(4113048_?)del deletion Pathogenic 11:3877481-4113048 11:3856251-4091818
11 STIM1 NM_003156.3(STIM1): c.1928G> A (p.Arg643His) single nucleotide variant Conflicting interpretations of pathogenicity rs140080199 11:4112898-4112898 11:4091668-4091668
12 STIM1 NM_003156.3(STIM1): c.1571C> T (p.Ser524Phe) single nucleotide variant Conflicting interpretations of pathogenicity rs141215990 11:4112541-4112541 11:4091311-4091311
13 STIM1 NM_003156.3(STIM1): c.1588C> T (p.Arg530Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs142239530 11:4112558-4112558 11:4091328-4091328
14 STIM1 NM_003156.3(STIM1): c.9A> G (p.Val3=) single nucleotide variant Uncertain significance rs765248656 11:3877509-3877509 11:3856279-3856279
15 STIM1 NM_003156.3(STIM1): c.1334C> T (p.Pro445Leu) single nucleotide variant Uncertain significance rs925534511 11:4104588-4104588 11:4083358-4083358
16 STIM1 NM_003156.3(STIM1): c.340C> T (p.Leu114Phe) single nucleotide variant Uncertain significance rs201767533 11:4045172-4045172 11:4023942-4023942
17 STIM1 NM_003156.3(STIM1): c.1672C> T (p.Arg558Trp) single nucleotide variant Uncertain significance rs747547917 11:4112642-4112642 11:4091412-4091412
18 STIM1 NM_003156.3(STIM1): c.57G> C (p.Gln19His) single nucleotide variant Uncertain significance rs1554949765 11:3877557-3877557 11:3856327-3856327
19 STIM1 NM_003156.3(STIM1): c.488C> A (p.Ala163Asp) single nucleotide variant Uncertain significance rs199893056 11:4076858-4076858 11:4055628-4055628
20 STIM1 NM_003156.3(STIM1): c.1712A> G (p.Lys571Arg) single nucleotide variant Uncertain significance rs1554972161 11:4112682-4112682 11:4091452-4091452
21 STIM1 NM_003156.3(STIM1): c.1763A> G (p.His588Arg) single nucleotide variant Uncertain significance rs1176059435 11:4112733-4112733 11:4091503-4091503
22 STIM1 NM_003156.3(STIM1): c.1844G> A (p.Arg615His) single nucleotide variant Uncertain significance rs145197758 11:4112814-4112814 11:4091584-4091584
23 STIM1 NM_003156.3(STIM1): c.458C> T (p.Thr153Ile) single nucleotide variant Uncertain significance rs144602692 11:4076828-4076828 11:4055598-4055598
24 STIM1 NM_003156.3(STIM1): c.100A> T (p.Thr34Ser) single nucleotide variant Uncertain significance 11:3877600-3877600 11:3856370-3856370
25 STIM1 NM_003156.3(STIM1): c.149G> A (p.Arg50Gln) single nucleotide variant Uncertain significance 11:3988791-3988791 11:3967561-3967561
26 STIM1 NM_003156.3(STIM1): c.1754C> T (p.Ala585Val) single nucleotide variant Uncertain significance 11:4112724-4112724 11:4091494-4091494
27 STIM1 NM_003156.3(STIM1): c.498-4A> C single nucleotide variant Uncertain significance 11:4080507-4080507 11:4059277-4059277
28 STIM1 NM_003156.3(STIM1): c.725_727AGA[1] (p.Lys243del) short repeat Uncertain significance 11:4091370-4091372 11:4070140-4070142
29 STIM1 NM_003156.3(STIM1): c.1025A> G (p.Tyr342Cys) single nucleotide variant Uncertain significance 11:4103469-4103469 11:4082239-4082239
30 STIM1 NM_003156.3(STIM1): c.1508T> C (p.Leu503Pro) single nucleotide variant Uncertain significance 11:4107740-4107740 11:4086510-4086510
31 STIM1 NM_003156.3(STIM1): c.1562C> T (p.Ser521Leu) single nucleotide variant Uncertain significance 11:4112532-4112532 11:4091302-4091302
32 STIM1 NM_003156.3(STIM1): c.1819G> A (p.Gly607Ser) single nucleotide variant Uncertain significance 11:4112789-4112789 11:4091559-4091559
33 STIM1 NM_003156.3(STIM1): c.1867G> A (p.Asp623Asn) single nucleotide variant Uncertain significance 11:4112837-4112837 11:4091607-4091607
34 STIM1 NM_003156.3(STIM1): c.1969G> A (p.Asp657Asn) single nucleotide variant Uncertain significance 11:4112939-4112939 11:4091709-4091709
35 STIM1 NM_003156.3(STIM1): c.2012G> A (p.Arg671Gln) single nucleotide variant Uncertain significance 11:4112982-4112982 11:4091752-4091752
36 STIM1 NM_003156.3(STIM1): c.454G> A (p.Glu152Lys) single nucleotide variant Uncertain significance 11:4076824-4076824 11:4055594-4055594
37 STIM1 NM_003156.3(STIM1): c.1541+1G> T single nucleotide variant Uncertain significance 11:4107774-4107774 11:4086544-4086544
38 STIM1 NM_003156.3(STIM1): c.1589G> A (p.Arg530His) single nucleotide variant Uncertain significance 11:4112559-4112559 11:4091329-4091329
39 STIM1 NM_003156.3(STIM1): c.1601C> T (p.Ala534Val) single nucleotide variant Uncertain significance 11:4112571-4112571 11:4091341-4091341
40 STIM1 NM_003156.3(STIM1): c.1625G> A (p.Arg542His) single nucleotide variant Uncertain significance 11:4112595-4112595 11:4091365-4091365
41 STIM1 NM_003156.3(STIM1): c.1184A> G (p.His395Arg) single nucleotide variant Uncertain significance 11:4104158-4104158 11:4082928-4082928
42 STIM1 NM_003156.3(STIM1): c.1377C> G (p.Ser459Arg) single nucleotide variant Uncertain significance 11:4104631-4104631 11:4083401-4083401
43 STIM1 NM_003156.3(STIM1): c.1581G> A (p.Met527Ile) single nucleotide variant Uncertain significance 11:4112551-4112551 11:4091321-4091321
44 STIM1 NM_003156.3(STIM1): c.1954G> T (p.Ala652Ser) single nucleotide variant Uncertain significance 11:4112924-4112924 11:4091694-4091694
45 STIM1 NM_003156.3(STIM1): c.1541+319G> A single nucleotide variant Uncertain significance 11:4108092-4108092 11:4086862-4086862
46 STIM1 NM_003156.3(STIM1): c.146G> A (p.Cys49Tyr) single nucleotide variant Uncertain significance 11:3988788-3988788 11:3967558-3967558
47 STIM1 NM_003156.3(STIM1): c.182A> G (p.Glu61Gly) single nucleotide variant Uncertain significance 11:3988824-3988824 11:3967594-3967594
48 STIM1 NM_003156.3(STIM1): c.196G> A (p.Glu66Lys) single nucleotide variant Uncertain significance 11:3988838-3988838 11:3967608-3967608
49 STIM1 NM_003156.3(STIM1): c.295C> G (p.His99Asp) single nucleotide variant Uncertain significance 11:4045127-4045127 11:4023897-4023897
50 STIM1 NM_003156.3(STIM1): c.392A> G (p.Asn131Ser) single nucleotide variant Uncertain significance 11:4076762-4076762 11:4055532-4055532

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

74 (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:

37
# 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 9.97 TRDN STIM2 STIM1 SDF4 EMD CASQ1
2 Z disc GO:0030018 9.67 RYR1 FLNC CASQ1
3 sarcolemma GO:0042383 9.65 RYR1 FLNC CASQ1
4 sarcoplasmic reticulum membrane GO:0033017 9.55 TRDN STIM1 RYR1 CASQ1 ATP2A1
5 I band GO:0031674 9.52 RYR1 CASQ1
6 calcium channel complex GO:0034704 9.51 RYR1 ATP2A1
7 junctional sarcoplasmic reticulum membrane GO:0014701 9.46 TRDN RYR1
8 junctional membrane complex GO:0030314 9.43 TRDN RYR1
9 smooth endoplasmic reticulum GO:0005790 9.43 RYR1 CASQ1 CALR
10 cortical endoplasmic reticulum GO:0032541 9.4 STIM1 EMD
11 terminal cisterna GO:0014802 9.32 RYR1 CASQ1
12 sarcoplasmic reticulum lumen GO:0033018 9.26 TRDN SRL CASQ1 CALR
13 sarcoplasmic reticulum GO:0016529 9.17 TRDN STIM1 SRL RYR1 CASQ1 CALR

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 STIM2 STIM1 RYR1 ORAI1 ATP2A1
2 ion transmembrane transport GO:0034220 9.8 TRDN RYR1 CASQ1 ATP2A1
3 calcium ion transport GO:0006816 9.77 STIM2 STIM1 RYR1 ORAI1 ATP2A1
4 calcium ion transmembrane transport GO:0070588 9.72 STIM2 STIM1 RYR1 ORAI1 ATP2A1
5 muscle contraction GO:0006936 9.65 TRDN RYR1 PABPN1 EMD ACTA1
6 regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum GO:0010880 9.58 TRDN CHD7 CASQ1
7 regulation of calcium ion transport GO:0051924 9.56 STIM1 ORAI1
8 positive regulation of calcium ion transport GO:0051928 9.55 STIM2 ORAI1
9 skeletal muscle fiber development GO:0048741 9.54 RYR1 ACTA1
10 calcium ion import GO:0070509 9.52 ORAI1 ATP2A1
11 regulation of store-operated calcium entry GO:2001256 9.48 STIM1 CASQ1
12 release of sequestered calcium ion into cytosol by sarcoplasmic reticulum GO:0014808 9.46 TRDN RYR1
13 activation of store-operated calcium channel activity GO:0032237 9.43 STIM2 STIM1
14 cellular calcium ion homeostasis GO:0006874 9.43 TRDN STIM2 STIM1 RYR1 CALR ATP2A1
15 store-operated calcium entry GO:0002115 9.33 STIM2 STIM1 ORAI1
16 regulation of cardiac conduction GO:1903779 9.02 TRDN STIM1 RYR1 CASQ1 ATP2A1

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 SDF4 RYR1 CASQ1 CALR
2 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
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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