MCID: DST024
MIFTS: 19

Distal Myopathy 4 malady

Genetic diseases, Neuronal diseases, Rare diseases, Muscle diseases categories
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Summaries for Distal Myopathy 4

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Sources:
47OMIM, 33MalaCards
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MalaCards: Distal Myopathy 4, is also known as distal myopathy with posterior leg and anterior hand involvement An important gene associated with Distal Myopathy 4 is FLNC (filamin C, gamma).

Description from OMIM:47 614065

Aliases & Classifications for Distal Myopathy 4

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Sources:
62UMLS, 20GeneTests, 22GTR, 47OMIM, 49Orphanet, 26ICD10 via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

49
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 49
athabaskan brainstem dysgenesis 62
distal muscular dystrophies 62
distal abd-filaminopathy 49
myopathy, distal, 4 47


External Ids:

OMIM47 614065
ICD10 via Orphanet26 G71.0

Related Diseases for Distal Myopathy 4

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Symptoms for Distal Myopathy 4

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Sources:
47OMIM
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Symptoms by clinical synopsis from OMIM:

614065

Clinical features from OMIM:

614065

Drugs & Therapeutics for Distal Myopathy 4

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Sources:
42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

Search ClinicalTrials for Distal Myopathy 4

Search NIH Clinical Center 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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Variations for Distal Myopathy 4

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Sources:
64UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
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UniProtKB/Swiss-Prot genetic disease variations for Distal Myopathy 4:

64
id Symbol AA change Variation ID SNP ID
1FLNCp.Ala193ThrVAR_066212
2FLNCp.Met251ThrVAR_066213

Clinvar genetic disease variations for Distal Myopathy 4:

1
id Gene Name Type Significance SNP ID Assembly Location
1HOXA1NM_005522.4(HOXA1): c.76C> T (p.Arg26Ter)single nucleotide variantPathogenicrs104894018GRCh37Chr 7, 27135456: 27135456
2FLNCNM_001458.4(FLNC): c.752T> C (p.Met251Thr)single nucleotide variantPathogenicrs387906586GRCh37Chr 7, 128477504: 128477504
3FLNCNM_001458.4(FLNC): c.577G> A (p.Ala193Thr)single nucleotide variantPathogenicrs387906587GRCh37Chr 7, 128475604: 128475604

Expression for genes affiliated with Distal Myopathy 4

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Sources:
2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Distal Myopathy 4

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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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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet