Disease #01959 (CFTD (myopathy, congenital, with fiber type disproportion (CFTD)), OMIM:255310)

Official abbreviation CFTD
Name myopathy, congenital, with fiber type disproportion (CFTD)
OMIM ID 255310
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal dominant, Autosomal recessive
Individuals reported having this disease 55
Phenotype entries for this disease 52
Associated with 6 genes ACTA1, MYH7, RYR1, SEPN1, TPM2, TPM3
Associated tissues -
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Remarks -


Individuals

55 entries on 1 page. Showing entries 1 - 55.
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00104285 FamPatA1/Pat1 PubMed: Clarke 2006, PubMed: O'Grady 2016 2-generation family, 2 affected sisters, , unaffected heterozygous carrier parents F - Australia - - 0 - - CFTD gross motor delay, deterioration with loss of ambulation, severe scoliosis; normal CK SEPN1 SEPN1 2 2 Johan den Dunnen
00104287 FamPatA2 PubMed: Clarke 2006 sister FamPatA1 F - Australia - - 0 - - CFTD WB SEPN1 normal SEPN1 SEPN1 2 1 Johan den Dunnen
00104369 ? - - F - (United States) - - 0 - - CFTD - SEPN1 SEPN1 2 1 Tom Winder
00104372 ? - - - - United States - - 0 - - CFTD - SEPN1 SEPN1 2 1 Tom Winder
00106172 - PubMed: Laing et al, 2009 - - - (United Kingdom (Great Britain)) - - 0 - - CFTD - ACTA1 ACTA1 1 1 Kristen Nowak
00106190 - PubMed: Laing et al, 2009 - - - (Australia) - - 0 - - CFTD - ACTA1 ACTA1 1 1 Kristen Nowak
00106270 - PubMed: Laing et al, 2009 father of proband carries variant and shows histopathological changes in muscle biopsy, although clinically unaffected - - (United Kingdom (Great Britain)) - - 0 - - CFTD - ACTA1 ACTA1 1 1 Kristen Nowak
00106272 - PubMed: Laing et al, 2004, OMIM:var0012 - - - (Japan) - - 0 - - CFTD deceased from hepatic encephalopathy ACTA1 ACTA1 1 1 Kristen Nowak
00106314 - PubMed: Laing et al, 2004, OMIM:var0011 - - - (Australia) - - 0 - - CFTD deceased from respiratory complications ACTA1 ACTA1 1 1 Kristen Nowak
00106315 - PubMed: Laing et al, 2004, OMIM:var0013 - - - (Japan) - - 0 - - CFTD no head control, and could move their distal limbs weakly, continuously ventilated by tracheostomy ACTA1 ACTA1 1 1 Kristen Nowak
00106441 - - - - - United States - - 0 - - CFTD - ACTA1 ACTA1 1 1 Tom Winder
00106442 - - - - - United States - - 0 - - CFTD - ACTA1 ACTA1 1 1 Tom Winder
00106451 - - - F - United States Hispanic - 0 - - CFTD - ACTA1 ACTA1 1 1 Tom Winder
00106464 - - - F no United Kingdom (Great Britain) White British - 0 - - CFTD EM: CFTD with possible minicores, decreased fetal movements, hypotonia, joint laxity, ambulant and able to climb stairs; CPK: 53 ACTA1 ACTA1 1 1 Thomas Cullup
00106482 - - - M - United States - - 0 - - CFTD - ACTA1 ACTA1 1 1 Tom Winder
00106492 - PubMed: Kajino 2014 - - - Japan - - 0 - - CFTD - ACTA1 ACTA1 1 1 Kristen Nowak
00163746 BOS1053 Congenital fiber type disproportion with cardiomyopathy associated with variants in MYL2 and NEB Marttila, M., Al Ghamdi, F., Abdel-Hamid, H., Lacomis, D., Beggs, A. H. - M no United States - - 0 - - CFTD CFTD with ilated cardiomyopathy (HP:0001644), congenital MYL2, NEB MYL2, NEB 2 1 Minttu Marttila
00213526 - - - F - United States - - 0 - - CFTD hypotonia, difficulty swallowing, ptosis, contractures, scoliosis. TPM2 TPM2 1 1 Tom Winder
00213540 Fam26 (20-393) - - M - - - - 0 - - CFTD scoliosis, mild weakness of neck flexors, deltoids, finger extensors of hands, minimal contractures of fingers and Achilles tendons; walk-2y TPM2 TPM2 1 1 Minttu Marttila
00213541 Fam29 - - M - - - - 0 - - CFTD facial weakness, high-arched palate TPM2 TPM2 1 1 Minttu Marttila
00213545 Pat1/Pat2 PubMed: Clarke 2012, Journal: Clarke 2015, PubMed: Punetha 2016 - M - - - - 0 - - CFTD see paper; ...; CPK normal TPM2 TPM2 1 1 Jaya Punetha
00213546 22832343-Pat2 PubMed: Clarke 2012, Journal: Clarke 2015 2-generation family, 1 affected, unaffected non-carreir parents - no - white - 0 - - CFTD see paper; ... TPM2 TPM2 1 1 Johan den Dunnen
00213554 - PubMed: Ottenheijm 2011 consanguinity 3 generations removed, unaffected carrier relatives F yes (United States) Mexico >9y6m 0 - - CFTD severe; LE initially weaker than UE; 2.3y-marked pectus excavatum; 9.5y-facial weakness, significant dysarthria, scoliosis, severe weakness of upper and lower limbs; 2.5y-ventilator dependent, G-tube; never walked; wheelchair bound allways; no intellectual disability TPM3 TPM3 2 1 Alan Beggs
00213558 - - - F - United States white - 0 - - CFTD - TPM3 TPM3 1 1 Tom Winder
00213560 - PubMed: Lawlor 2009 - F - United Kingdom (Great Britain) - - 0 - - CFTD mild; 18y-myopathic facies, scoliosis, fatigue, difficulty with weight gain, finger/heel cord contractures, mild to moderate weakness of axial/proximal muscles; neck flexors and axial muscles particularly weak; 12y-nocturnal bipap; occasional difficulty chewing and swallowing; walk-18m; able to run; no intellectual disability TPM3 TPM3 1 1 Alan Beggs
00213562 18300303.c PubMed: Clarke 2008 3 generation family, 4 affecteds - - Martinique - - 0 - - CFTD - TPM3 TPM3 1 4 Johan den Dunnen
00213564 20951040-Cas1 PubMed: Munot 2010 - F no United Kingdom (Great Britain) - - 0 - - CFTD - TPM3 TPM3 1 1 Johan den Dunnen
00213565 18300303.F4 PubMed: Clarke 2008 3 generation family, 4 affecteds - - - - - 0 - - CFTD - TPM3 TPM3 1 4 Johan den Dunnen
00213566 18300303.F3 PubMed: Clarke 2008 - - - - - - 0 - - CFTD - TPM3 TPM3 1 1 Johan den Dunnen
00213569 - - - F - United States - - 0 - - CFTD hypotonia, axial weakness, FTT, muscle biopsy shows CFTD TPM3 TPM3 1 1 Tom Winder
00213571 18300303.F5 PubMed: Clarke 2008 - - - - - - 0 - - CFTD - TPM3 TPM3 1 1 Johan den Dunnen
00213573 20179953-PatTPM3-1 PubMed: Tominaga 2010 - - - Japan - - 0 - - CFTD - TPM3 TPM3 1 1 Johan den Dunnen
00213574 20179953-PatTPM3-2 PubMed: Tominaga 2010 - - - Japan - - 0 - - CFTD - TPM3 TPM3 1 1 Johan den Dunnen
00213576 18300303.F2 PubMed: Clarke 2008 - - - - - - 0 - - CFTD - TPM3 TPM3 1 1 Johan den Dunnen
00213577 18300303.F1 PubMed: Clarke 2008 - - - - - - 0 - - CFTD - TPM3 TPM3 1 1 Johan den Dunnen
00213581 - PubMed: Lawlor 2009 - M - (United States) - - 0 - - CFTD history of cryptorchidism, PDD/ADHD and verbal learning disorder; 5.5y-facial weakness, but relatively normal tone and strength; able to run, current ability unknown; walk-18m; run TPM3 TPM3 1 1 Alan Beggs
00213582 - PubMed: Lawlor 2009 - F - United States - - 0 - - CFTD retrospectively recalls: always slow runner, poor strength, history of myalgia with exertion and distal parathesias; 33y-remature ventricular contractions; 39y-ptosis, myopathic facies, diffuse mild weakness; occasional difficulty with chewing and swallowing; slow feeder, no known respiratory issues; walk-39y; no intellectual disability TPM3 TPM3 1 1 Alan Beggs
00213583 - PubMed: Ottenheijm 2011 - F - (United States) - - 0 - - CFTD moderate; 8.75y-facial weakness, ptosis, dysarthria, diffuse muscle weakness (especially axial), and lordosis; 8y-nocturnal bi-pap; walk-5y; never run; no intellectual disability TPM3 TPM3 1 1 Alan Beggs
00213584 - PubMed: Ottenheijm 2011 - F - (United States) - - 0 - - CFTD poor weight gain/suck as infant; 14m-dysarthria, no head/neck control, not ambulatory, moderate diffuse weakness TPM3 TPM3 1 1 Alan Beggs
00213587 20951040-Cas2 PubMed: Munot 2010 - M no United Kingdom (Great Britain) - - 0 - - CFTD - TPM3 TPM3 1 1 Johan den Dunnen
00213588 - - - M - United States - - 0 - - CFTD - TPM3 TPM3 1 1 Tom Winder
00213589 - - - F - United States - - 0 - - CFTD - TPM3 TPM3 1 1 Tom Winder
00213596 Fam7 - affected mother/daughter F - - - - 0 - - CFTD mild proximal weakness involving trunk, shoulder and hip girdle, minimal involvement of facial and neck muscles, no progression, reflexes absent apart from ankle jerks (1/4), high-arched palate; walk-2y; run-2y TPM3 TPM3 1 2 Minttu Marttila
00218030 - - - F - United States - - 0 - - CFTD - RYR1 RYR1 2 1 Tom Winder
00227770 - {PMID30195123: Tadokoro et al 2018} Patient diagnosed with congenital fibre type disproportion (CFTD), and dilated cardiomyopathy, no nemaline bodies seen, first seen at age 6. M ? Japan - - 0 - - CFTD - ACTA1 ACTA1 1 1 Kristen Nowak
00229642 - - - F yes Brazil - - 0 - - CFTD Mild proximal weakness, myopathic face, high arched palate, scapula winging - TPM3 1 1 Cristiane Moreno
00265821 PatC11 PubMed: Cummings 2017 - M - - - - 0 - - CFTD - RYR1 RYR1 2 1 Johan den Dunnen
00288968 Pat22 PubMed: Punetha 2016 analysis 94 myopathy cases - - - - - 0 - - CFTD - RYR1 RYR1 1 1 Johan den Dunnen
00288970 Pat24 PubMed: Punetha 2016 analysis 94 myopathy cases - - - - - 0 - - CFTD - RYR1 LAMA2, RYR1 2 1 Johan den Dunnen
00288973 Pat27 PubMed: Punetha 2016 analysis 94 myopathy cases - - - - - 0 - - CFTD - RYR1 RYR1 1 1 Johan den Dunnen
00288977 Pat31 PubMed: Punetha 2016 analysis 94 myopathy cases - - - - - 0 - - CFTD - TPM3 TPM3 1 1 Johan den Dunnen
00288996 Pat50 PubMed: Punetha 2016 analysis 94 myopathy cases - - - - - 0 - - CFTD - RYR1 RYR1 1 1 Johan den Dunnen
00329115 - - congenital myopathy M - France - - - - - CFTD - SEPN1 SEPN1 1 1 Svetlana Gorokhova
00411323 - - - M no Thailand - - - - - CFTD - - RYR1 2 1 Ponghatai Damrongphol
00411347 - - - M no Thailand - - - - - CFTD - - RYR1 2 1 Ponghatai Damrongphol
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