KEGG   DISEASE: Congenital fiber type disproportionHelp
Entry
H00701                      Disease                                

Name
Congenital fiber type disproportion
Description
Congenital fiber type disproportion (CFTD) is a relatively rare subtype of congenital myopathy characterized by hypotonia and generalized muscle weakness. Pathologic diagnosis of CFTD is based on the presence of type 1 fiber hypotrophy of at least 12% in the absence of other notable pathological findings, in addition to a clinical presentation typical of congenital myopathies. CFTD is a genetically heterogenous condition with X-linked, autosomal dominant, and autosomal recessive inheritance patterns. Mutations of the ACTA1 and SEPN1 genes have been identified in a small percentage of CFTD cases, and recently mutations in the TPM3 gene were also found to cause CFTD.
Category
Nervous system disease; Musculoskeletal disease
Brite
Human diseases [BR:br08402]
 Musculoskeletal diseases
  Muscular diseases
   H00701  Congenital fiber type disproportion
Human diseases in ICD-11 classification [BR:br08403]
 08 Diseases of the nervous system
  Diseases of neuromuscular junction or muscle
   Primary disorders of muscles
    8C72  Congenital myopathies
     H00701  Congenital fiber type disproportion
BRITE hierarchy
Pathway
hsa04260  Cardiac muscle contraction
Gene
ACTA1 [HSA:58] [KO:K10354]
SEPN1 [HSA:57190] [KO:K19874]
TRM3 [HSA:7170] [KO:K09290]
Other DBs
ICD-11: 8C72.1
ICD-10: G71.2
MeSH: C567594
OMIM: 255310
Reference
  Authors
Clarke NF, Kolski H, Dye DE, Lim E, Smith RL, Patel R, Fahey MC, Bellance R, Romero NB, Johnson ES, Labarre-Vila A, Monnier N, Laing NG, North KN
  Title
Mutations in TPM3 are a common cause of congenital fiber type disproportion.
  Journal
Ann Neurol 63:329-37 (2008)
DOI:10.1002/ana.21308
Reference
  Authors
Lawlor MW, Dechene ET, Roumm E, Geggel AS, Moghadaszadeh B, Beggs AH
  Title
Mutations of tropomyosin 3 (TPM3) are common and associated with type 1 myofiber hypotrophy in congenital fiber type disproportion.
  Journal
Hum Mutat 31:176-83 (2010)
DOI:10.1002/humu.21157

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