TAM1
MCID: MYP087
MIFTS: 42

Myopathy, Tubular Aggregate, 1 (TAM1) malady

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

Aliases & Classifications for Myopathy, Tubular Aggregate, 1

Aliases & Descriptions for Myopathy, Tubular Aggregate, 1:

Name: Myopathy, Tubular Aggregate, 1 54 66 69
Tubular Aggregate Myopathy 12 50 25 56 66 14 69
Myopathy, Tubular Aggregate 50 24 13
Myopathy with Tubular Aggregates 25 29
Tam1 24 66
Tam 25 66
Tubular Aggregate Myopathy 1 24

Characteristics:

Orphanet epidemiological data:

56
tubular aggregate myopathy
Inheritance: Autosomal dominant;

HPO:

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


Classifications:

Orphanet: 56  
Rare neurological diseases


External Ids:

OMIM 54 160565
Disease Ontology 12 DOID:0080089
Orphanet 56 ORPHA2593
ICD10 via Orphanet 34 G71.2
UMLS via Orphanet 70 C0410207
MedGen 40 C0410207
MeSH 42 D020914

Summaries for Myopathy, Tubular Aggregate, 1

OMIM : 54 Tubular aggregates in muscle, first described by Engel (1964), are structures of variable appearance consisting of an... (160565) more...

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, respiratory insufficiency and flexion contracture. 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 Platelet homeostasis. Affiliated tissues include skeletal muscle, and related phenotypes are behavior/neurological and growth/size/body region

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 : 50 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. last updated: 12/27/2016

UniProtKB/Swiss-Prot : 66 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 all 36)
id Related Disease Score Top Affiliating Genes
1 stormorken syndrome 32.0 MIR4687 STIM1
2 myopathy 30.8 ACTA1 RYR1
3 myeloproliferative syndrome, transient 11.5
4 myopathy, tubular aggregate, 2 11.2
5 glaucoma 1, open angle, p 10.2 QDPR RYR1
6 fanconi anemia, complementation group n 10.2 ATP2A1 RYR1
7 raynaud disease 10.2 QDPR RYR1
8 arthrogryposis, distal, type 8 10.2 EMD RYR1
9 myopathy, congenital, with fiber-type disproportion 10.2 ACTA1 RYR1
10 malignant hyperthermia susceptibility 5 10.1 QDPR RYR1 TRDN
11 pediatric angiosarcoma 10.1 ATP2A1 RYR1
12 microcephaly and chorioretinopathy 2 10.1 ACTA1 EMD RYR1
13 autosomal dominant nocturnal frontal lobe epilepsy 2 10.1 CALR RYR1 TRDN
14 myopathy, myofibrillar, fatal infantile hypertrophy, alpha-b crystallin-related 10.1 ACTA1 FLNC
15 jph2-related familial hypertrophic cardiomyopathy 10.0 MIR4687 STIM1
16 autosomal recessive limb-girdle muscular dystrophy type 2f 10.0 EMD FLNC
17 breast cancer 9.9
18 gastric cancer 9.9
19 spindle cell sarcoma 9.9 ACTA1 EMD FLNC RYR1 STIM1
20 systemic lupus erythematosus 9.8
21 lupus erythematosus 9.8
22 hypoxia 9.8
23 retinitis 9.8
24 retinal degeneration 9.8
25 respiratory failure 9.8
26 ceroid lipofuscinosis, neuronal, 2 9.8 MIR4687 ORAI1 STIM1 STIM2
27 endometriosis 9.7
28 astrocytoma 9.7
29 myeloid leukemia 9.7
30 psoriasis 9.7
31 glioma 9.7
32 leukemia 9.7
33 lymphocytic choriomeningitis 9.7
34 down syndrome 9.7
35 ovarian cancer 9.7
36 segawa syndrome, recessive 8.0 ACTA1 ATP2A1 CALR CHD7 DOK7 EMD

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 by clinical synopsis from OMIM:

160565

Clinical features from OMIM:

160565

Human phenotypes related to Myopathy, Tubular Aggregate, 1:

32 (show all 20)
id Description HPO Frequency HPO Source Accession
1 exercise-induced myalgia 32 HP:0003738
2 respiratory insufficiency 32 HP:0002093
3 flexion contracture 32 HP:0001371
4 myopathy 32 HP:0003198
5 elevated serum creatine phosphokinase 32 HP:0003236
6 areflexia of lower limbs 32 HP:0002522
7 muscle cramps 32 HP:0003394
8 abnormality of the pupil 32 HP:0000615
9 external ophthalmoplegia 32 HP:0000544
10 proximal amyotrophy 32 HP:0007126
11 proximal muscle weakness 32 HP:0003701
12 increased variability in muscle fiber diameter 32 HP:0003557
13 muscle stiffness 32 HP:0003552
14 easy fatigability 32 HP:0003388
15 nyctalopia 32 HP:0000662
16 frequent falls 32 HP:0002359
17 hyporeflexia of lower limbs 32 HP:0002600
18 difficulty running 32 HP:0009046
19 type 2 muscle fiber atrophy 32 HP:0003554
20 weakness of the intrinsic hand muscles 32 HP:0009005

UMLS symptoms related to Myopathy, Tubular Aggregate, 1:


muscular stiffness, exercise-induced myalgia

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

44
id Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.97 CHD7 DOK7 EMD FLNC RYR1 STIM2
2 growth/size/body region MP:0005378 9.96 ACTA1 CALR CHD7 DOK7 FLNC ORAI1
3 mortality/aging MP:0010768 9.9 ACTA1 ATP2A1 CALR CHD7 DOK7 FLNC
4 muscle MP:0005369 9.65 DOK7 EMD FLNC RYR1 SRL TRDN
5 respiratory system MP:0005388 9.1 ATP2A1 CHD7 DOK7 FLNC RYR1 STIM1

Drugs & Therapeutics for Myopathy, Tubular Aggregate, 1

Interventional clinical trials:


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

Search NIH Clinical Center for Myopathy, Tubular Aggregate, 1

Genetic Tests for Myopathy, Tubular Aggregate, 1

Genetic tests related to Myopathy, Tubular Aggregate, 1:

id Genetic test Affiliating Genes
1 Myopathy with Tubular Aggregates 29
2 Tubular Aggregate Myopathy 1 24 STIM1

Anatomical Context for Myopathy, Tubular Aggregate, 1

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

39
Skeletal Muscle

Publications for Myopathy, Tubular Aggregate, 1

Variations for Myopathy, Tubular Aggregate, 1

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

66
id Symbol AA change Variation ID SNP ID
1 STIM1 p.His72Gln VAR_069892 rs397515436
2 STIM1 p.Asp84Gly VAR_069893 rs397514675
3 STIM1 p.His109Asn VAR_069894 rs397514676
4 STIM1 p.His109Arg VAR_069895 rs397514677
5 STIM1 p.Ile115Phe VAR_074037 rs527236030
6 STIM1 p.Asn80Thr VAR_075619 rs748277951
7 STIM1 p.Gly81Asp VAR_075620
8 STIM1 p.Leu96Val VAR_075621
9 STIM1 p.Phe108Ile VAR_075622
10 STIM1 p.Phe108Leu VAR_075623

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

6
id 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.325C> A (p.His109Asn) single nucleotide variant Pathogenic rs397514676 GRCh37 Chromosome 11, 4045157: 4045157
3 STIM1 NM_003156.3(STIM1): c.326A> G (p.His109Arg) single nucleotide variant Pathogenic rs397514677 GRCh37 Chromosome 11, 4045158: 4045158
4 STIM1 NM_003156.3(STIM1): c.216C> A (p.His72Gln) single nucleotide variant Pathogenic rs397515436 GRCh37 Chromosome 11, 3988858: 3988858
5 STIM1 NM_003156.3(STIM1): c.343A> T (p.Ile115Phe) single nucleotide variant Pathogenic rs527236030 GRCh38 Chromosome 11, 4023945: 4023945
6 STIM1 NM_003156.3(STIM1): c.239A> C (p.Asn80Thr) single nucleotide variant Pathogenic rs748277951 GRCh38 Chromosome 11, 3967651: 3967651

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 GeneCards Suite gene sharing:

id Super pathways Score Top Affiliating Genes
1
Show member pathways
12.16 ATP2A1 MIR4687 ORAI1 RYR1 STIM1 TRDN
2
Show member pathways
11.83 ATP2A1 MIR4687 ORAI1 STIM1
3
Show member pathways
11.57 MIR4687 ORAI1 STIM1
4 11.55 CALR RYR1 STIM1 STIM2
5
Show member pathways
11.29 ATP2A1 ORAI1 RYR1 STIM1 STIM2
6 10.4 ATP2A1 RYR1

GO Terms for Myopathy, Tubular Aggregate, 1

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

id Name GO ID Score Top Affiliating Genes
1 endoplasmic reticulum GO:0005783 9.88 ATP2A1 CALR EMD STIM1 STIM2 TRDN
2 smooth endoplasmic reticulum GO:0005790 9.37 CALR RYR1
3 sarcoplasmic reticulum lumen GO:0033018 9.33 CALR SRL TRDN
4 junctional sarcoplasmic reticulum membrane GO:0014701 9.32 RYR1 TRDN
5 junctional membrane complex GO:0030314 9.26 RYR1 TRDN
6 sarcoplasmic reticulum membrane GO:0033017 9.26 ATP2A1 RYR1 STIM1 TRDN
7 sarcoplasmic reticulum GO:0016529 9.1 ATP2A1 CALR RYR1 SRL STIM1 TRDN

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

(show all 13)
id Name GO ID Score Top Affiliating Genes
1 calcium ion transport GO:0006816 9.67 ATP2A1 RYR1 STIM1 STIM2
2 muscle contraction GO:0006936 9.62 ACTA1 EMD RYR1 TRDN
3 regulation of cardiac conduction GO:1903779 9.56 ATP2A1 RYR1 STIM1 TRDN
4 calcium ion transmembrane transport GO:0070588 9.55 ATP2A1 ORAI1 RYR1 STIM1 STIM2
5 regulation of calcium ion transport GO:0051924 9.52 ORAI1 STIM1
6 skeletal muscle fiber development GO:0048741 9.51 ACTA1 RYR1
7 positive regulation of calcium ion transport GO:0051928 9.49 ORAI1 STIM2
8 regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum GO:0010880 9.48 CHD7 TRDN
9 calcium ion import GO:0070509 9.46 ATP2A1 ORAI1
10 release of sequestered calcium ion into cytosol by sarcoplasmic reticulum GO:0014808 9.43 RYR1 TRDN
11 activation of store-operated calcium channel activity GO:0032237 9.4 STIM1 STIM2
12 store-operated calcium entry GO:0002115 9.13 ORAI1 STIM1 STIM2
13 cellular calcium ion homeostasis GO:0006874 9.02 CALR RYR1 STIM1 STIM2 TRDN

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

id Name GO ID Score Top Affiliating Genes
1 calcium ion binding GO:0005509 9.43 ATP2A1 CALR RYR1 SDF4 STIM1 STIM2
2 calcium channel regulator activity GO:0005246 9.16 STIM1 STIM2
3 store-operated calcium channel activity GO:0015279 8.8 ORAI1 STIM1 STIM2

Sources for Myopathy, Tubular Aggregate, 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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