MCID: MYP091
MIFTS: 41

Myopathy, Congenital, with Fiber-Type Disproportion

Categories: Genetic 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 57 75
Myopathy, Congenital, with Fiber-Type Disproportion 1 57 13
Fiber-Type Disproportion Myopathy, Congenital 57 55
Cftdm 57 75
Cftd 57 75
Fiber-Type Disproportion Myopathy, Congenital; Cftdm 57
Congenital Fiber-Type Disproportion Myopathy 75

Characteristics:

OMIM:

57
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:

32
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 : 57 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, congenital, with fiber-type disproportion, x-linked. An important gene associated with Myopathy, Congenital, with Fiber-Type Disproportion is TPM3 (Tropomyosin 3), and among its related pathways/superpathways are Actin Nucleation by ARP-WASP Complex and Vascular smooth muscle contraction. Affiliated tissues include skeletal muscle, and related phenotypes are high palate and narrow face

UniProtKB/Swiss-Prot : 75 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

Symptoms via clinical synopsis from OMIM:

57
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

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

32 (show all 29)
# Description HPO Frequency HPO Source Accession
1 high palate 32 HP:0000218
2 narrow face 32 HP:0000275
3 long face 32 HP:0000276
4 ptosis 32 HP:0000508
5 ophthalmoplegia 32 very rare (1%) HP:0000602
6 bulbar palsy 32 HP:0001283
7 neonatal hypotonia 32 HP:0001319
8 congenital hip dislocation 32 very rare (1%) HP:0001374
9 failure to thrive 32 HP:0001508
10 decreased fetal movement 32 HP:0001558
11 weak cry 32 HP:0001612
12 dilated cardiomyopathy 32 HP:0001644
13 dysphagia 32 HP:0002015
14 respiratory insufficiency 32 HP:0002093
15 scoliosis 32 very rare (1%) HP:0002650
16 respiratory insufficiency due to muscle weakness 32 HP:0002747
17 lumbar hyperlordosis 32 HP:0002938
18 limb joint contracture 32 very rare (1%) HP:0003121
19 generalized muscle weakness 32 HP:0003324
20 centrally nucleated skeletal muscle fibers 32 HP:0003687
21 proximal muscle weakness 32 HP:0003701
22 type 1 fibers relatively smaller than type 2 fibers 32 HP:0003755
23 facial palsy 32 HP:0010628
24 feeding difficulties 32 HP:0011968
25 pectus excavatum 32 frequent (33%) HP:0000767
26 muscular hypotonia 32 hallmark (90%) HP:0001252
27 reduced tendon reflexes 32 hallmark (90%) HP:0001315
28 recurrent respiratory infections 32 frequent (33%) HP:0002205
29 myopathy 32 hallmark (90%) HP:0003198

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

46
# 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:

41
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:

75 (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 92)
# Gene Variation Type Significance SNP ID Assembly Location
1 SELENON NM_020451.2(SELENON): c.713dupA (p.Asn238Lysfs) duplication Pathogenic rs368104077 GRCh38 Chromosome 1, 25808755: 25808755
2 SELENON NM_020451.2(SELENON): c.713dupA (p.Asn238Lysfs) duplication Pathogenic rs368104077 GRCh37 Chromosome 1, 26135246: 26135246
3 SELENON NM_020451.2(SELENON): c.943G> A (p.Gly315Ser) single nucleotide variant Pathogenic rs121908188 GRCh37 Chromosome 1, 26136244: 26136244
4 SELENON NM_020451.2(SELENON): c.943G> A (p.Gly315Ser) single nucleotide variant Pathogenic rs121908188 GRCh38 Chromosome 1, 25809753: 25809753
5 TPM3 NM_152263.3(TPM3): c.503G> A (p.Arg168His) single nucleotide variant Pathogenic rs121964852 GRCh37 Chromosome 1, 154145447: 154145447
6 TPM3 NM_152263.3(TPM3): c.503G> A (p.Arg168His) single nucleotide variant Pathogenic rs121964852 GRCh38 Chromosome 1, 154172971: 154172971
7 TPM3 NM_152263.3(TPM3): c.298C> A (p.Leu100Met) single nucleotide variant Pathogenic rs121964853 GRCh37 Chromosome 1, 154148670: 154148670
8 TPM3 NM_152263.3(TPM3): c.298C> A (p.Leu100Met) single nucleotide variant Pathogenic rs121964853 GRCh38 Chromosome 1, 154176194: 154176194
9 TPM3 NM_152263.3(TPM3): c.502C> G (p.Arg168Gly) single nucleotide variant Pathogenic/Likely pathogenic rs121964854 GRCh37 Chromosome 1, 154145448: 154145448
10 TPM3 NM_152263.3(TPM3): c.502C> G (p.Arg168Gly) single nucleotide variant Pathogenic/Likely pathogenic rs121964854 GRCh38 Chromosome 1, 154172972: 154172972
11 TPM3 NM_152263.3(TPM3): c.502C> T (p.Arg168Cys) single nucleotide variant Pathogenic rs121964854 GRCh37 Chromosome 1, 154145448: 154145448
12 TPM3 NM_152263.3(TPM3): c.502C> T (p.Arg168Cys) single nucleotide variant Pathogenic rs121964854 GRCh38 Chromosome 1, 154172972: 154172972
13 MYH7 NM_000257.3(MYH7): c.1207C> T (p.Arg403Trp) single nucleotide variant Pathogenic rs3218714 GRCh37 Chromosome 14, 23898488: 23898488
14 MYH7 NM_000257.3(MYH7): c.1207C> T (p.Arg403Trp) single nucleotide variant Pathogenic rs3218714 GRCh38 Chromosome 14, 23429279: 23429279
15 ACTA1 NM_001100.3(ACTA1): c.881A> T (p.Asp294Val) single nucleotide variant Pathogenic rs121909529 GRCh37 Chromosome 1, 229567577: 229567577
16 ACTA1 NM_001100.3(ACTA1): c.881A> T (p.Asp294Val) single nucleotide variant Pathogenic rs121909529 GRCh38 Chromosome 1, 229431830: 229431830
17 ACTA1 NM_001100.3(ACTA1): c.668T> C (p.Leu223Pro) single nucleotide variant Pathogenic rs121909530 GRCh37 Chromosome 1, 229567881: 229567881
18 ACTA1 NM_001100.3(ACTA1): c.668T> C (p.Leu223Pro) single nucleotide variant Pathogenic rs121909530 GRCh38 Chromosome 1, 229432134: 229432134
19 ACTA1 NM_001100.3(ACTA1): c.1000C> T (p.Pro334Ser) single nucleotide variant Pathogenic rs121909531 GRCh37 Chromosome 1, 229567380: 229567380
20 ACTA1 NM_001100.3(ACTA1): c.1000C> T (p.Pro334Ser) single nucleotide variant Pathogenic rs121909531 GRCh38 Chromosome 1, 229431633: 229431633
21 MYH7 NM_000257.3(MYH7): c.5186_5188delAGA (p.Lys1729del) deletion Pathogenic rs367543052 GRCh37 Chromosome 14, 23884685: 23884687
22 MYH7 NM_000257.3(MYH7): c.5186_5188delAGA (p.Lys1729del) deletion Pathogenic rs367543052 GRCh38 Chromosome 14, 23415476: 23415478
23 MYH7 NM_000257.3(MYH7): c.5807A> G (p.Ter1936Trp) single nucleotide variant Pathogenic rs367543053 GRCh37 Chromosome 14, 23882064: 23882064
24 MYH7 NM_000257.3(MYH7): c.5807A> G (p.Ter1936Trp) single nucleotide variant Pathogenic rs367543053 GRCh38 Chromosome 14, 23412855: 23412855
25 RYR1 NM_000540.2(RYR1): c.1205T> C (p.Met402Thr) single nucleotide variant Pathogenic rs118192117 GRCh37 Chromosome 19, 38942486: 38942486
26 RYR1 NM_000540.2(RYR1): c.1205T> C (p.Met402Thr) single nucleotide variant Pathogenic rs118192117 GRCh38 Chromosome 19, 38451846: 38451846
27 RYR1 NM_000540.2(RYR1): c.13480G> T (p.Glu4494Ter) single nucleotide variant Pathogenic rs143849895 GRCh37 Chromosome 19, 39057593: 39057593
28 RYR1 NM_000540.2(RYR1): c.13480G> T (p.Glu4494Ter) single nucleotide variant Pathogenic rs143849895 GRCh38 Chromosome 19, 38566953: 38566953
29 RYR1 NM_000540.2(RYR1): c.5333C> A (p.Ser1778Ter) single nucleotide variant Pathogenic rs367543055 GRCh37 Chromosome 19, 38976628: 38976628
30 RYR1 NM_000540.2(RYR1): c.5333C> A (p.Ser1778Ter) single nucleotide variant Pathogenic rs367543055 GRCh38 Chromosome 19, 38485988: 38485988
31 RYR1 NM_000540.2(RYR1): c.6104A> T (p.His2035Leu) single nucleotide variant Pathogenic rs367543056 GRCh37 Chromosome 19, 38981349: 38981349
32 RYR1 NM_000540.2(RYR1): c.6104A> T (p.His2035Leu) single nucleotide variant Pathogenic rs367543056 GRCh38 Chromosome 19, 38490709: 38490709
33 RYR1 NM_000540.2(RYR1): c.738T> G (p.Tyr246Ter) single nucleotide variant Pathogenic rs367543054 GRCh37 Chromosome 19, 38937346: 38937346
34 RYR1 NM_000540.2(RYR1): c.738T> G (p.Tyr246Ter) single nucleotide variant Pathogenic rs367543054 GRCh38 Chromosome 19, 38446706: 38446706
35 RYR1 NM_000540.2(RYR1): c.9000+1G> T single nucleotide variant Pathogenic rs111364670 GRCh37 Chromosome 19, 39001206: 39001206
36 RYR1 NM_000540.2(RYR1): c.9000+1G> T single nucleotide variant Pathogenic rs111364670 GRCh38 Chromosome 19, 38510566: 38510566
37 RYR1 NM_000540.2(RYR1): c.9978C> A (p.Asn3326Lys) single nucleotide variant Pathogenic rs367543057 GRCh37 Chromosome 19, 39008291: 39008291
38 RYR1 NM_000540.2(RYR1): c.9978C> A (p.Asn3326Lys) single nucleotide variant Pathogenic rs367543057 GRCh38 Chromosome 19, 38517651: 38517651
39 ACTA1 NM_001100.3(ACTA1): c.143G> A (p.Gly48Asp) single nucleotide variant Pathogenic rs367543049 GRCh37 Chromosome 1, 229568614: 229568614
40 ACTA1 NM_001100.3(ACTA1): c.143G> A (p.Gly48Asp) single nucleotide variant Pathogenic rs367543049 GRCh38 Chromosome 1, 229432867: 229432867
41 ACTA1 NM_001100.3(ACTA1): c.16G> A (p.Glu6Lys) single nucleotide variant Pathogenic rs367543048 GRCh37 Chromosome 1, 229568847: 229568847
42 ACTA1 NM_001100.3(ACTA1): c.16G> A (p.Glu6Lys) single nucleotide variant Pathogenic rs367543048 GRCh38 Chromosome 1, 229433100: 229433100
43 ACTA1 NM_001100.3(ACTA1): c.621G> C (p.Glu207Asp) single nucleotide variant Pathogenic rs367543050 GRCh37 Chromosome 1, 229567928: 229567928
44 ACTA1 NM_001100.3(ACTA1): c.621G> C (p.Glu207Asp) single nucleotide variant Pathogenic rs367543050 GRCh38 Chromosome 1, 229432181: 229432181
45 ACTA1 NM_001100.3(ACTA1): c.727G> A (p.Glu243Lys) single nucleotide variant Pathogenic rs367543051 GRCh37 Chromosome 1, 229567822: 229567822
46 ACTA1 NM_001100.3(ACTA1): c.727G> A (p.Glu243Lys) single nucleotide variant Pathogenic rs367543051 GRCh38 Chromosome 1, 229432075: 229432075
47 TPM3 NM_152263.3(TPM3): c.11C> T (p.Ala4Val) single nucleotide variant Pathogenic rs199474711 GRCh37 Chromosome 1, 154164484: 154164484
48 TPM3 NM_152263.3(TPM3): c.11C> T (p.Ala4Val) single nucleotide variant Pathogenic rs199474711 GRCh38 Chromosome 1, 154192008: 154192008
49 TPM3 NM_152263.3(TPM3): c.272G> C (p.Arg91Pro) single nucleotide variant Pathogenic rs199474713 GRCh37 Chromosome 1, 154148696: 154148696
50 TPM3 NM_152263.3(TPM3): c.272G> C (p.Arg91Pro) single nucleotide variant Pathogenic rs199474713 GRCh38 Chromosome 1, 154176220: 154176220

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
12.27 ACTA1 INSR MYH7
2
Show member pathways
11.97 INSR MYH7 RYR1
3 10.85 MYH7 TPM3
4 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 muscle contraction GO:0006936 8.92 ACTA1 MYH7 RYR1 TPM3

Sources for Myopathy, Congenital, with Fiber-Type Disproportion

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
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30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
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44 MeSH
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58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
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74 UMLS via Orphanet
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