MCID: DST024
MIFTS: 24

Distal Myopathy 4 malady

Neuronal diseases, Muscle diseases categories

Summaries for Distal Myopathy 4

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Sources:
46OMIM, 32MalaCards
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MalaCards: Distal Myopathy 4, also known as distal myopathy with posterior leg and anterior hand involvement, is related to distal muscular dystrophy and athabaskan brainstem dysgenesis syndrome. An important gene associated with Distal Myopathy 4 is FLNC (filamin C, gamma).

Description from OMIM:46 614065

Aliases & Classifications for Distal Myopathy 4

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Sources:
60UMLS, 20GeneTests, 22GTR, 46OMIM, 48Orphanet, 26ICD10 via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Neuronal diseases, Muscle diseases


Characteristics (Orphanet epidemiological data):

48
distal myopathy with posterior leg and anterior hand involvement:
Inheritance: Autosomal dominant; Prevalence: <1/1000000; Age of onset: Adolescence / Young adulthood


Aliases & Descriptions:

distal myopathy 4 20 22
distal myopathy with posterior leg and anterior hand involvement 48
athabaskan brainstem dysgenesis 60
distal muscular dystrophies 60
distal abd-filaminopathy 48
myopathy, distal, 4 46


External Ids:

OMIM46 614065
ICD10 via Orphanet26 G71.0

Related Diseases for Distal Myopathy 4

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Sources:
17GeneCards, 18GeneDecks
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Diseases in the Distal Myopathy 4 family:

Cav3-Related Distal Myopathy Myopathy, Distal 3
Adult-Onset Distal Myopathy Due to Vcp Mutation

Diseases related to Distal Myopathy 4 via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1distal muscular dystrophy10.8
2athabaskan brainstem dysgenesis syndrome10.8
3muscular dystrophy10.8
4myopathy10.1
5dysferlinopathy10.1
6laing distal myopathy10.1
7distal myopathy with vocal cord weakness10.1
8distal myopathy markesbery-griggs type10.1
9miyoshi myopathy10.1

Graphical network of diseases related to Distal Myopathy 4:



Diseases related to distal myopathy 4

Clinical Features for Distal Myopathy 4

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Sources:
46OMIM
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Clinical features from OMIM:

614065

Clinical synopsis from OMIM:

614065

Drugs & Therapeutics for Distal Myopathy 4

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Distal Myopathy 4

Drug clinical trials:

Search ClinicalTrials for Distal Myopathy 4

Search NIH Clinical Center for Distal Myopathy 4

Search CenterWatch for Distal Myopathy 4

Genetic Tests for Distal Myopathy 4

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Sources:
20GeneTests, 22GTR
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Genetic tests related to Distal Myopathy 4:

id Genetic test Affiliating Genes
1 Distal Myopathy 420 FLNC
2 Myopathy, Distal, 422

Anatomical Context for Distal Myopathy 4

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Animal Models for Distal Myopathy 4 or affiliated genes

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Publications for Distal Myopathy 4

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Genetic Variations for Distal Myopathy 4

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Sources:
62UniProtKB/Swiss-Prot
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Genetic disease variations for Distal Myopathy 4:

62
id Symbol AA change Variation ID SNP ID
1FLNCp.Ala193ThrVAR_066212
2FLNCp.Met251ThrVAR_066213

Expression for genes affiliated with Distal Myopathy 4

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Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Distal Myopathy 4

Search GEO for disease gene expression data for Distal Myopathy 4.

Pathways for genes affiliated with Distal Myopathy 4

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Compounds for genes affiliated with Distal Myopathy 4

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GO Terms for genes affiliated with Distal Myopathy 4

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Products for genes affiliated with Distal Myopathy 4

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Distal Myopathy 4

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet