Myopathy, Tubular Aggregate, 1 (TAM1)

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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 MedGen 41 C0410207 C4011726 SNOMED-CT via HPO 68 129565002 16046003 19373007 203598005 248268002 249939004 263681008 274093008 282479002 385522000 409623005 46252003 55033002 55300003 57048009 65194006 68962001 7890003 88565003 more UMLS 71 C0410207 C4011726

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.

Clinical features from OMIM®:

160565 (Updated 05-Mar-2021)

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