CFTDX
MCID: MYP039
MIFTS: 15

Myopathy, Congenital, with Fiber-Type Disproportion, X-Linked (CFTDX)

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

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

Name: Myopathy, Congenital, with Fiber-Type Disproportion, X-Linked 58 30 13 74
Cftdx 58

Characteristics:

OMIM:

58
Inheritance:
x-linked dominant

Miscellaneous:
most affected males die of respiratory failure within the first months of life
obligate female carriers may show mild signs of muscle weakness, especially of the face
genetic heterogeneity (see cftd1, )


HPO:

33
myopathy, congenital, with fiber-type disproportion, x-linked:
Inheritance heterogeneous x-linked dominant inheritance


Summaries for Myopathy, Congenital, with Fiber-Type Disproportion, X-Linked

MalaCards based summary : Myopathy, Congenital, with Fiber-Type Disproportion, X-Linked, also known as cftdx, is related to myopathy, congenital, with fiber-type disproportion, and has symptoms including facial paresis An important gene associated with Myopathy, Congenital, with Fiber-Type Disproportion, X-Linked is CFTDX (Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked). Affiliated tissues include lung, and related phenotypes are ptosis and facial palsy

Description from OMIM: 300580

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

Diseases related to Myopathy, Congenital, with Fiber-Type Disproportion, X-Linked via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 myopathy, congenital, with fiber-type disproportion 11.1

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

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

33 (show all 15)
# Description HPO Frequency HPO Source Accession
1 ptosis 33 HP:0000508
2 facial palsy 33 HP:0010628
3 short stature 33 HP:0004322
4 myopathy 33 HP:0003198
5 respiratory insufficiency due to muscle weakness 33 HP:0002747
6 micrognathia 33 HP:0000347
7 respiratory distress 33 HP:0002098
8 dilated cardiomyopathy 33 HP:0001644
9 polyhydramnios 33 HP:0001561
10 decreased body weight 33 HP:0004325
11 weak cry 33 HP:0001612
12 poor suck 33 HP:0002033
13 generalized neonatal hypotonia 33 HP:0008935
14 frontalis muscle weakness 33 HP:0004661
15 type 1 fibers relatively smaller than type 2 fibers 33 HP:0003755

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
ptosis

Head And Neck Face:
micrognathia
frontalis muscle weakness
facial weakness
horizontal smile

Respiratory:
weak cry
respiratory distress due to muscle weakness, often fatal
respiratory muscle weakness, severe

Growth Weight:
low weight

Cardiovascular Heart:
dilated cardiomyopathy (reported in 1 patient)

Respiratory Lung:
lung hypoplasia at birth

Growth Height:
short stature

Prenatal Manifestations Amniotic Fluid:
polyhydramnios

Abdomen Gastrointestinal:
poor suck

Growth Other:
poor growth

Muscle Soft Tissue:
type 1 fibers are at least 12% smaller than type 2 fibers
hypotonia, neonatal, generalized
relatively preserved limb strength
muscle biopsy shows fiber type disproportion
muscle biopsy shows no dystrophic changes

Clinical features from OMIM:

300580

UMLS symptoms related to Myopathy, Congenital, with Fiber-Type Disproportion, X-Linked:


facial paresis

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

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

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

Genetic tests related to Myopathy, Congenital, with Fiber-Type Disproportion, X-Linked:

# Genetic test Affiliating Genes
1 Myopathy, Congenital, with Fiber-Type Disproportion, X-Linked 30

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

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

42
Lung

Publications for Myopathy, Congenital, with Fiber-Type Disproportion, X-Linked

Variations for Myopathy, Congenital, with Fiber-Type Disproportion, X-Linked

Expression for Myopathy, Congenital, with Fiber-Type Disproportion, X-Linked

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

Pathways for Myopathy, Congenital, with Fiber-Type Disproportion, X-Linked

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

Sources for Myopathy, Congenital, with Fiber-Type Disproportion, X-Linked

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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