CFTD
MCID: MYP091
MIFTS: 42

Myopathy, Congenital, with Fiber-Type Disproportion (CFTD)

Categories: Bone diseases, Genetic diseases, Neuronal diseases

Aliases & Classifications for Myopathy, Congenital, with Fiber-Type Disproportion

MalaCards integrated aliases for Myopathy, Congenital, with Fiber-Type Disproportion:

Name: Myopathy, Congenital, with Fiber-Type Disproportion 58 76
Myopathy, Congenital, with Fiber-Type Disproportion 1 58 13
Fiber-Type Disproportion Myopathy, Congenital 58 56
Cftdm 58 76
Cftd 58 76
Fiber-Type Disproportion Myopathy, Congenital; Cftdm 58
Congenital Fiber-Type Disproportion Myopathy 76

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive
autosomal dominant

Miscellaneous:
variable severity
genetic heterogeneity
onset usually at birth
approximately 25% have a severe course and die of respiratory failure
usually follows a static course or is slowly progressive
allelic disorder to rigid spine muscular dystrophy (rsmd1, )


HPO:

33
myopathy, congenital, with fiber-type disproportion:
Onset and clinical course variable expressivity congenital onset
Inheritance heterogeneous autosomal recessive inheritance autosomal dominant inheritance


Classifications:



Summaries for Myopathy, Congenital, with Fiber-Type Disproportion

OMIM : 58 Congenital fiber-type disproportion (CFTD) myopathy is a genetically heterogeneous disorder in which there is relative hypotrophy of type 1 muscle fibers compared to type 2 fibers on skeletal muscle biopsy. However, these findings are not specific and can be found in many different myopathic and neuropathic conditions. Clarke and North (2003) stated that the diagnosis of 'congenital fiber-type disproportion' as a disease entity is one of exclusion. They also suggested that the nonspecific histologic findings should be termed 'fiber size disproportion,' thus reserving the term CFTD for those cases in which no secondary cause can be found. (255310)

MalaCards based summary : Myopathy, Congenital, with Fiber-Type Disproportion, also known as myopathy, congenital, with fiber-type disproportion 1, is related to congenital fiber-type disproportion and myopathy. An important gene associated with Myopathy, Congenital, with Fiber-Type Disproportion is TPM3 (Tropomyosin 3), and among its related pathways/superpathways are Vascular smooth muscle contraction and Cardiac muscle contraction. Affiliated tissues include skeletal muscle, and related phenotypes are muscular hypotonia and generalized muscle weakness

UniProtKB/Swiss-Prot : 76 Myopathy, congenital, with fiber-type disproportion: A genetically heterogeneous disorder in which there is relative hypotrophy of type 1 muscle fibers compared to type 2 fibers on skeletal muscle biopsy. However, these findings are not specific and can be found in many different myopathic and neuropathic conditions.

Related Diseases for Myopathy, Congenital, with Fiber-Type Disproportion

Graphical network of the top 20 diseases related to Myopathy, Congenital, with Fiber-Type Disproportion:



Diseases related to Myopathy, Congenital, with Fiber-Type Disproportion

Symptoms & Phenotypes for Myopathy, Congenital, with Fiber-Type Disproportion

Human phenotypes related to Myopathy, Congenital, with Fiber-Type Disproportion:

33 (show top 50) (show all 54)
# Description HPO Frequency HPO Source Accession
1 muscular hypotonia 33 hallmark (90%) HP:0001252
2 generalized muscle weakness 33 hallmark (90%) HP:0003324
3 reduced tendon reflexes 33 hallmark (90%) HP:0001315
4 pectus excavatum 33 frequent (33%) HP:0000767
5 high palate 33 frequent (33%) HP:0000218
6 failure to thrive 33 frequent (33%) HP:0001508
7 recurrent respiratory infections 33 frequent (33%) HP:0002205
8 respiratory insufficiency due to muscle weakness 33 frequent (33%) HP:0002747
9 waddling gait 33 frequent (33%) HP:0002515
10 emg: myopathic abnormalities 33 frequent (33%) HP:0003458
11 type 1 muscle fiber atrophy 33 frequent (33%) HP:0011807
12 motor delay 33 frequent (33%) HP:0001270
13 joint laxity 33 frequent (33%) HP:0001388
14 fatigable weakness of bulbar muscles 33 frequent (33%) HP:0030192
15 long face 33 frequent (33%) HP:0000276
16 decreased fetal movement 33 frequent (33%) HP:0001558
17 tented upper lip vermilion 33 frequent (33%) HP:0010804
18 hip contracture 33 frequent (33%) HP:0003273
19 weak cry 33 frequent (33%) HP:0001612
20 reduced vital capacity 33 frequent (33%) HP:0002792
21 ankle contracture 33 frequent (33%) HP:0006466
22 poor suck 33 frequent (33%) HP:0002033
23 mildly elevated creatine kinase 33 frequent (33%) HP:0008180
24 ptosis 33 occasional (7.5%) HP:0000508
25 hyperlordosis 33 occasional (7.5%) HP:0003307
26 short stature 33 occasional (7.5%) HP:0004322
27 micrognathia 33 occasional (7.5%) HP:0000347
28 elbow flexion contracture 33 occasional (7.5%) HP:0002987
29 scapular winging 33 occasional (7.5%) HP:0003691
30 congenital hip dislocation 33 very rare (1%) HP:0001374
31 talipes equinovarus 33 occasional (7.5%) HP:0001762
32 kyphoscoliosis 33 occasional (7.5%) HP:0002751
33 ophthalmoplegia 33 very rare (1%) HP:0000602
34 polyhydramnios 33 occasional (7.5%) HP:0001561
35 pulmonary hypoplasia 33 occasional (7.5%) HP:0002089
36 calf muscle hypertrophy 33 occasional (7.5%) HP:0008981
37 knee flexion contracture 33 occasional (7.5%) HP:0006380
38 flexion contracture of finger 33 occasional (7.5%) HP:0012785
39 intellectual disability 33 very rare (1%) HP:0001249
40 scoliosis 33 very rare (1%) HP:0002650
41 cryptorchidism 33 very rare (1%) HP:0000028
42 dilated cardiomyopathy 33 very rare (1%) HP:0001644
43 limb joint contracture 33 very rare (1%) HP:0003121
44 dysphagia 33 HP:0002015
45 respiratory insufficiency 33 HP:0002093
46 facial palsy 33 HP:0010628
47 neonatal hypotonia 33 HP:0001319
48 feeding difficulties 33 HP:0011968
49 narrow face 33 HP:0000275
50 proximal muscle weakness 33 HP:0003701

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
ptosis
ophthalmoplegia (in 20%)

Muscle Soft Tissue:
generalized muscle weakness
proximal muscle weakness
hypotonia, neonatal
bulbar weakness
muscle biopsy shows hypotrophy of type 1 muscle fibers
more
Prenatal Manifestations Movement:
decreased fetal movement

Head And Neck Mouth:
high-arched palate

Abdomen Gastrointestinal:
poor feeding
poor swallowing

Cardiovascular Heart:
dilated cardiomyopathy has been reported in 1 patient

Skeletal Limbs:
limb contractures (in 25%)

Growth Other:
failure to thrive

Head And Neck Face:
long face
facial muscle weakness
thin face

Respiratory:
weak cry
respiratory distress due to muscle weakness
decreased forced vital capacity
mechanical ventilation required in severe cases

Skeletal Spine:
lumbar lordosis
scoliosis (in 25%)

Skeletal:
contractures

Skeletal Pelvis:
congenital dislocation of the hips (in 13%)

Clinical features from OMIM:

255310

MGI Mouse Phenotypes related to Myopathy, Congenital, with Fiber-Type Disproportion:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 muscle MP:0005369 9.17 ACTA1 HACD1 INSR MYH7 RYR1 SELENON

Drugs & Therapeutics for Myopathy, Congenital, with Fiber-Type Disproportion

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Molecular and Genetic Studies of Congenital Myopathies Recruiting NCT00272883
2 Congenital Muscle Disease Study of Patient and Family Reported Medical Information Recruiting NCT01403402

Search NIH Clinical Center for Myopathy, Congenital, with Fiber-Type Disproportion

Genetic Tests for Myopathy, Congenital, with Fiber-Type Disproportion

Anatomical Context for Myopathy, Congenital, with Fiber-Type Disproportion

MalaCards organs/tissues related to Myopathy, Congenital, with Fiber-Type Disproportion:

42
Skeletal Muscle

Publications for Myopathy, Congenital, with Fiber-Type Disproportion

Articles related to Myopathy, Congenital, with Fiber-Type Disproportion:

(show all 11)
# Title Authors Year
1
Congenital fiber type disproportion myopathy caused by LMNA mutations. ( 24642510 )
2014
2
Comparison of clinical characteristics between congenital fiber type disproportion myopathy and congenital myopathy with type 1 fiber predominance. ( 16941741 )
2006
3
Congenital fiber-type disproportion myopathy with type I fiber predominance and type II fiber smallness and atrophy--a sterological analysis. ( 15696781 )
2005
4
A girl with 1p36 deletion syndrome and congenital fiber type disproportion myopathy. ( 12376748 )
2002
5
Cardiac manifestations of congenital fiber-type disproportion myopathy. ( 10073429 )
1999
6
Alternative splicing of exon 17 and a missense mutation in exon 20 of the insulin receptor gene in two brothers with a novel syndrome of insulin resistance (congenital fiber-type disproportion myopathy). ( 10844410 )
1999
7
Craniofacial abnormalities associated with congenital fiber type disproportion myopathy. ( 9484111 )
1997
8
Severe central nervous system involvement in a patient with congenital fiber-type disproportion myopathy. ( 8745394 )
1996
9
Early predictors of poor outcome in congenital fiber-type disproportion myopathy. ( 1524518 )
1992
10
Congenital fiber type disproportion myopathy in Lowe syndrome. ( 2604802 )
1989
11
Congenital fiber type disproportion myopathy. Report of a case with late onset and myalgia. ( 3978981 )
1985

Variations for Myopathy, Congenital, with Fiber-Type Disproportion

UniProtKB/Swiss-Prot genetic disease variations for Myopathy, Congenital, with Fiber-Type Disproportion:

76 (show all 15)
# Symbol AA change Variation ID SNP ID
1 ACTA1 p.Leu223Pro VAR_032917 rs121909530
2 ACTA1 p.Asp294Val VAR_032918 rs121909529
3 ACTA1 p.Pro334Ser VAR_032919 rs121909531
4 SELENON p.Gly315Ser VAR_019637 rs121908188
5 TPM3 p.Leu100Met VAR_070066 rs121964853
6 TPM3 p.Arg168Cys VAR_070067 rs121964854
7 TPM3 p.Arg168Gly VAR_070068 rs121964854
8 TPM3 p.Arg168His VAR_070069 rs121964852
9 TPM3 p.Lys169Glu VAR_070070 rs199474715
10 TPM3 p.Arg245Gly VAR_070071 rs199474718
11 TPM3 p.Ala4Val VAR_071499 rs199474711
12 TPM3 p.Arg91Pro VAR_071502 rs199474713
13 TPM3 p.Leu100Val VAR_071503
14 TPM3 p.Glu174Ala VAR_071506 rs199474716
15 TPM3 p.Glu241Lys VAR_071507 rs199474717

ClinVar genetic disease variations for Myopathy, Congenital, with Fiber-Type Disproportion:

6 (show top 50) (show all 108)
# Gene Variation Type Significance SNP ID Assembly Location
1 MYH7 NM_000257.3(MYH7): c.2788G> C (p.Glu930Gln) single nucleotide variant Pathogenic/Likely pathogenic rs397516171 GRCh37 Chromosome 14, 23893250: 23893250
2 MYH7 NM_000257.3(MYH7): c.2788G> C (p.Glu930Gln) single nucleotide variant Pathogenic/Likely pathogenic rs397516171 GRCh38 Chromosome 14, 23424041: 23424041
3 TPM3 NM_152263.3(TPM3): c.92A> C (p.Lys31Thr) single nucleotide variant Benign/Likely benign rs62000429 GRCh37 Chromosome 1, 154164403: 154164403
4 TPM3 NM_152263.3(TPM3): c.92A> C (p.Lys31Thr) single nucleotide variant Benign/Likely benign rs62000429 GRCh38 Chromosome 1, 154191927: 154191927
5 SELENON NM_020451.2(SELENON): c.827_829dupCCT (p.Ala276_Cys277insSer) duplication Likely pathogenic rs797045950 GRCh38 Chromosome 1, 25809105: 25809107
6 SELENON NM_020451.2(SELENON): c.827_829dupCCT (p.Ala276_Cys277insSer) duplication Likely pathogenic rs797045950 GRCh37 Chromosome 1, 26135596: 26135598
7 RYR1 NM_000540.2(RYR1): c.2654G> A (p.Arg885His) single nucleotide variant Conflicting interpretations of pathogenicity rs370634440 GRCh38 Chromosome 19, 38463499: 38463499
8 RYR1 NM_000540.2(RYR1): c.2654G> A (p.Arg885His) single nucleotide variant Conflicting interpretations of pathogenicity rs370634440 GRCh37 Chromosome 19, 38954139: 38954139
9 SELENON NM_020451.2(SELENON): c.713dupA (p.Asn238Lysfs) duplication Pathogenic rs368104077 GRCh38 Chromosome 1, 25808755: 25808755
10 SELENON NM_020451.2(SELENON): c.713dupA (p.Asn238Lysfs) duplication Pathogenic rs368104077 GRCh37 Chromosome 1, 26135246: 26135246
11 SELENON NM_020451.2(SELENON): c.943G> A (p.Gly315Ser) single nucleotide variant Pathogenic rs121908188 GRCh37 Chromosome 1, 26136244: 26136244
12 SELENON NM_020451.2(SELENON): c.943G> A (p.Gly315Ser) single nucleotide variant Pathogenic rs121908188 GRCh38 Chromosome 1, 25809753: 25809753
13 TPM3 NM_152263.3(TPM3): c.857A> C (p.Ter286Ser) single nucleotide variant Uncertain significance rs199474720 GRCh37 Chromosome 1, 154140414: 154140414
14 TPM3 NM_152263.3(TPM3): c.857A> C (p.Ter286Ser) single nucleotide variant Uncertain significance rs199474720 GRCh38 Chromosome 1, 154167938: 154167938
15 TPM3 NM_152263.3(TPM3): c.855-1G> A single nucleotide variant Uncertain significance rs113605263 GRCh37 Chromosome 1, 154140417: 154140417
16 TPM3 NM_152263.3(TPM3): c.855-1G> A single nucleotide variant Uncertain significance rs113605263 GRCh38 Chromosome 1, 154167941: 154167941
17 TPM3 NM_152263.3(TPM3): c.503G> A (p.Arg168His) single nucleotide variant Pathogenic rs121964852 GRCh37 Chromosome 1, 154145447: 154145447
18 TPM3 NM_152263.3(TPM3): c.503G> A (p.Arg168His) single nucleotide variant Pathogenic rs121964852 GRCh38 Chromosome 1, 154172971: 154172971
19 TPM3 NM_152263.3(TPM3): c.298C> A (p.Leu100Met) single nucleotide variant Pathogenic rs121964853 GRCh37 Chromosome 1, 154148670: 154148670
20 TPM3 NM_152263.3(TPM3): c.298C> A (p.Leu100Met) single nucleotide variant Pathogenic rs121964853 GRCh38 Chromosome 1, 154176194: 154176194
21 TPM3 NM_152263.3(TPM3): c.502C> G (p.Arg168Gly) single nucleotide variant Pathogenic/Likely pathogenic rs121964854 GRCh37 Chromosome 1, 154145448: 154145448
22 TPM3 NM_152263.3(TPM3): c.502C> G (p.Arg168Gly) single nucleotide variant Pathogenic/Likely pathogenic rs121964854 GRCh38 Chromosome 1, 154172972: 154172972
23 TPM3 NM_152263.3(TPM3): c.502C> T (p.Arg168Cys) single nucleotide variant Pathogenic rs121964854 GRCh37 Chromosome 1, 154145448: 154145448
24 TPM3 NM_152263.3(TPM3): c.502C> T (p.Arg168Cys) single nucleotide variant Pathogenic rs121964854 GRCh38 Chromosome 1, 154172972: 154172972
25 MYH7 NM_000257.4(MYH7): c.1207C> T (p.Arg403Trp) single nucleotide variant Pathogenic rs3218714 GRCh37 Chromosome 14, 23898488: 23898488
26 MYH7 NM_000257.4(MYH7): c.1207C> T (p.Arg403Trp) single nucleotide variant Pathogenic rs3218714 GRCh38 Chromosome 14, 23429279: 23429279
27 ACTA1 NM_001100.3(ACTA1): c.881A> T (p.Asp294Val) single nucleotide variant Pathogenic rs121909529 GRCh37 Chromosome 1, 229567577: 229567577
28 ACTA1 NM_001100.3(ACTA1): c.881A> T (p.Asp294Val) single nucleotide variant Pathogenic rs121909529 GRCh38 Chromosome 1, 229431830: 229431830
29 ACTA1 NM_001100.3(ACTA1): c.668T> C (p.Leu223Pro) single nucleotide variant Pathogenic rs121909530 GRCh37 Chromosome 1, 229567881: 229567881
30 ACTA1 NM_001100.3(ACTA1): c.668T> C (p.Leu223Pro) single nucleotide variant Pathogenic rs121909530 GRCh38 Chromosome 1, 229432134: 229432134
31 ACTA1 NM_001100.3(ACTA1): c.1000C> T (p.Pro334Ser) single nucleotide variant Pathogenic rs121909531 GRCh37 Chromosome 1, 229567380: 229567380
32 ACTA1 NM_001100.3(ACTA1): c.1000C> T (p.Pro334Ser) single nucleotide variant Pathogenic rs121909531 GRCh38 Chromosome 1, 229431633: 229431633
33 MYH7 NM_000257.3(MYH7): c.5186_5188delAGA (p.Lys1729del) deletion Pathogenic rs367543052 GRCh37 Chromosome 14, 23884685: 23884687
34 MYH7 NM_000257.3(MYH7): c.5186_5188delAGA (p.Lys1729del) deletion Pathogenic rs367543052 GRCh38 Chromosome 14, 23415476: 23415478
35 MYH7 NM_000257.3(MYH7): c.5807A> G (p.Ter1936Trp) single nucleotide variant Uncertain significance rs367543053 GRCh37 Chromosome 14, 23882064: 23882064
36 MYH7 NM_000257.3(MYH7): c.5807A> G (p.Ter1936Trp) single nucleotide variant Uncertain significance rs367543053 GRCh38 Chromosome 14, 23412855: 23412855
37 RYR1 NM_000540.2(RYR1): c.10204T> G (p.Cys3402Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs367543058 GRCh37 Chromosome 19, 39010039: 39010039
38 RYR1 NM_000540.2(RYR1): c.10204T> G (p.Cys3402Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs367543058 GRCh38 Chromosome 19, 38519399: 38519399
39 RYR1 NM_000540.2(RYR1): c.1205T> C (p.Met402Thr) single nucleotide variant Pathogenic rs118192117 GRCh37 Chromosome 19, 38942486: 38942486
40 RYR1 NM_000540.2(RYR1): c.1205T> C (p.Met402Thr) single nucleotide variant Pathogenic rs118192117 GRCh38 Chromosome 19, 38451846: 38451846
41 RYR1 NM_000540.2(RYR1): c.13480G> T (p.Glu4494Ter) single nucleotide variant Pathogenic rs143849895 GRCh37 Chromosome 19, 39057593: 39057593
42 RYR1 NM_000540.2(RYR1): c.13480G> T (p.Glu4494Ter) single nucleotide variant Pathogenic rs143849895 GRCh38 Chromosome 19, 38566953: 38566953
43 RYR1 NM_000540.2(RYR1): c.5333C> A (p.Ser1778Ter) single nucleotide variant Pathogenic rs367543055 GRCh37 Chromosome 19, 38976628: 38976628
44 RYR1 NM_000540.2(RYR1): c.5333C> A (p.Ser1778Ter) single nucleotide variant Pathogenic rs367543055 GRCh38 Chromosome 19, 38485988: 38485988
45 RYR1 NM_000540.2(RYR1): c.6104A> T (p.His2035Leu) single nucleotide variant Pathogenic rs367543056 GRCh37 Chromosome 19, 38981349: 38981349
46 RYR1 NM_000540.2(RYR1): c.6104A> T (p.His2035Leu) single nucleotide variant Pathogenic rs367543056 GRCh38 Chromosome 19, 38490709: 38490709
47 RYR1 NM_000540.2(RYR1): c.738T> G (p.Tyr246Ter) single nucleotide variant Pathogenic rs367543054 GRCh37 Chromosome 19, 38937346: 38937346
48 RYR1 NM_000540.2(RYR1): c.738T> G (p.Tyr246Ter) single nucleotide variant Pathogenic rs367543054 GRCh38 Chromosome 19, 38446706: 38446706
49 RYR1 NM_000540.2(RYR1): c.9000+1G> T single nucleotide variant Pathogenic rs111364670 GRCh37 Chromosome 19, 39001206: 39001206
50 RYR1 NM_000540.2(RYR1): c.9000+1G> T single nucleotide variant Pathogenic rs111364670 GRCh38 Chromosome 19, 38510566: 38510566

Expression for Myopathy, Congenital, with Fiber-Type Disproportion

Search GEO for disease gene expression data for Myopathy, Congenital, with Fiber-Type Disproportion.

Pathways for Myopathy, Congenital, with Fiber-Type Disproportion

Pathways related to Myopathy, Congenital, with Fiber-Type Disproportion according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.99 INSR MYH7 RYR1
2 10.85 MYH7 TPM3
3 10.48 ACTA1 TPM3

GO Terms for Myopathy, Congenital, with Fiber-Type Disproportion

Cellular components related to Myopathy, Congenital, with Fiber-Type Disproportion according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 actin filament GO:0005884 9.16 ACTA1 TPM3
2 sarcomere GO:0030017 8.96 ACTA1 MYH7
3 stress fiber GO:0001725 8.8 ACTA1 MYH7 TPM3

Biological processes related to Myopathy, Congenital, with Fiber-Type Disproportion according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 muscle filament sliding GO:0030049 9.33 ACTA1 MYH7 TPM3
2 skeletal muscle fiber development GO:0048741 9.13 ACTA1 RYR1 SELENON
3 cellular response to caffeine GO:0071313 8.96 RYR1
4 muscle contraction GO:0006936 8.92 ACTA1 MYH7 RYR1 TPM3

Sources for Myopathy, Congenital, with Fiber-Type Disproportion

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