MCID: MYP039
MIFTS: 15

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

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 57 29 13 73
Cftdx 57

Characteristics:

OMIM:

57
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:

32
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 micrognathia and ptosis

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 10.9

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

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
ptosis

Head And Neck Face:
micrognathia
facial weakness
frontalis muscle 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

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

32 (show all 15)
# Description HPO Frequency HPO Source Accession
1 micrognathia 32 HP:0000347
2 ptosis 32 HP:0000508
3 polyhydramnios 32 HP:0001561
4 weak cry 32 HP:0001612
5 dilated cardiomyopathy 32 HP:0001644
6 poor suck 32 HP:0002033
7 respiratory distress 32 HP:0002098
8 respiratory insufficiency due to muscle weakness 32 HP:0002747
9 myopathy 32 HP:0003198
10 type 1 fibers relatively smaller than type 2 fibers 32 HP:0003755
11 short stature 32 HP:0004322
12 decreased body weight 32 HP:0004325
13 frontalis muscle weakness 32 HP:0004661
14 generalized neonatal hypotonia 32 HP:0008935
15 facial palsy 32 HP:0010628

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 29

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

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

41
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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....