Disease: Congenital Fiber-Type Disproportion Myopathy

Name Congenital Fiber-Type Disproportion Myopathy

Synonyms -

Classification genetic, neurological

Phenotypes Ankle flexion contracture; Calf muscle hypertrophy; Congenital hip dislocation; Cryptorchidism; Decreased fetal movement; Dilated cardiomyopathy; EMG: myopathic abnormalities; Elbow flexion contracture; Failure to thrive; Fatigable weakness of bulbar muscles; Flexion contracture of finger; Generalized muscle weakness; High palate; Hip contracture; Hyperlordosis; Intellectual disability; Joint laxity; Knee flexion contracture; Kyphoscoliosis; Long face; Micrognathia; Mildly elevated creatine kinase; Motor delay; Muscular hypotonia; Ophthalmoplegia; Pectus excavatum; Polyhydramnios; Poor suck; Ptosis; Pulmonary hypoplasia; Recurrent respiratory infections; Reduced tendon reflexes; Reduced vital capacity; Respiratory insufficiency due to muscle weakness; Scapular winging; Short stature; Talipes equinovarus; Tented upper lip vermilion; Type 1 muscle fiber atrophy; Waddling gait; Weak cry

Associated Genes TPM3 (Withdrawn symbols: NEM1, TRK ) , TPM2 (Withdrawn symbols: AMCD1, DA1, NEM4 ) , HACD1 (Withdrawn symbols: CAP, PTPLA ) , MAP3K20 (Withdrawn symbols: MLK7, MLTK, MLTKalpha, MLTKbeta, MRK, ZAK ) , MYL2 (Withdrawn symbols: CMH10 ) , ACTA1 (Withdrawn symbols: ACTA, NEM3 ) , ITGA7 , SELENON (Withdrawn symbols: MDRS1, RSMD1, RSS, SELN, SEPN1 )

Mouse Orthologs Tpm3 (Withdrawn symbols: Tpm-5, Tpm5, Trop-5 ) , Tpm2 (Withdrawn symbols: Tpm-2, Trop-2 ) , Hacd1 (Withdrawn symbols: Ptpla ) , Map3k20 (Withdrawn symbols: AV006891, B230120H23Rik, Zak ) , Myl2 (Withdrawn symbols: Mylpc ) , Acta1 (Withdrawn symbols: AA959943, Acta-2, Acts, Actsk-1 ) , Itga7 , Selenon (Withdrawn symbols: 1110019I12Rik, AI414492, Sepn1 )

Source ORPHA:2020 (names, synonyms, disease associated genes),
Orphanet (disease classes),
HGNC, Ensembl, MGI (gene symbols, gene orthology)
HPO (phenotypes)

Mouse Model: phenotype-based associations

Disease phenotypes are compared with mouse phenotypes, with each mouse model contributing one point to the diagram. Scores are computed according to phenotype specificity and cross-species similarity. X-axis shows the score of the single phenotype that contributes most. Y-axis shows an average among all phenotype matches. The curved line designates a visualization threshold; models below threshold are omitted, except when their genotype matches a disease-associated gene.

Mouse Models

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