Disease #01959

Official abbreviation CFTD
Name myopathy, congenital, with fiber type disproportion (CFTD)
OMIM ID 255310
Human Phenotype Ontology Project (HPO) HPO
Inheritance -
Individuals reported having this disease 47
Phenotype entries for this disease 46
Associated with 6 genes ACTA1, MYH7, RYR1, SEPN1, TPM2, TPM3
Associated tissues -
Disease features -
Remarks -


Individuals

47 entries on 1 page. Showing entries 1 - 47.
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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 Nigel Laing & Kristen Nowak
00106190 - PubMed: Laing et al, 2009 - - - (Australia) - - 0 - - CFTD - ACTA1 ACTA1 1 1 Nigel Laing & 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 Nigel Laing & Kristen Nowak
00106272 - PubMed: Laing et al, 2004, OMIM:var0012 - - - (Japan) - - 0 - - CFTD deceased from hepatic encephalopathy ACTA1 ACTA1 1 1 Nigel Laing & Kristen Nowak
00106314 - PubMed: Laing et al, 2004, OMIM:var0011 - - - (Australia) - - 0 - - CFTD deceased from respiratory complications ACTA1 ACTA1 1 1 Nigel Laing & 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 Nigel Laing & 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 Nigel Laing & 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 PubMed: Clarke 2012, Journal: Clarke 2015 - 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 Nigel Laing & 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
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