KEGG   DISEASE: Congenital fiber type disproportionHelp
H00701                      Disease                                

Congenital fiber type disproportion
Congenital myopathy [DS:H01810]
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.
Nervous system disease; Musculoskeletal disease
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
hsa04260  Cardiac muscle contraction
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
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
Mutations in TPM3 are a common cause of congenital fiber type disproportion.
Ann Neurol 63:329-37 (2008)
Lawlor MW, Dechene ET, Roumm E, Geggel AS, Moghadaszadeh B, Beggs AH
Mutations of tropomyosin 3 (TPM3) are common and associated with type 1 myofiber hypotrophy in congenital fiber type disproportion.
Hum Mutat 31:176-83 (2010)

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