MCID: DST024
MIFTS: 19

Distal Myopathy 4 malady

Genetic diseases, Neuronal diseases, Rare diseases, Muscle diseases categories

Summaries for Distal Myopathy 4

About this section
Sources:
48OMIM, 34MalaCards
See all sources

Fully expand this MalaCard

Download this MalaCard
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:48 614065

Aliases & Classifications for Distal Myopathy 4

About this section
Sources:
63UMLS, 21GeneTests, 23GTR, 48OMIM, 50Orphanet, 27ICD10 via Orphanet
See all sources

Classifications:

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


Characteristics (Orphanet epidemiological data):

50
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 21 23
distal myopathy with posterior leg and anterior hand involvement 50
athabaskan brainstem dysgenesis 63
distal muscular dystrophies 63
distal abd-filaminopathy 50
myopathy, distal, 4 48


External Ids:

OMIM48 614065
ICD10 via Orphanet27 G71.0

Related Diseases for Distal Myopathy 4

About this section

Symptoms for Distal Myopathy 4

About this section
Sources:
48OMIM
See all sources

Symptoms by clinical synopsis from OMIM:

614065

Clinical features from OMIM:

614065

Drugs & Therapeutics for Distal Myopathy 4

About this section
Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
See all sources

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

About this section
Sources:
21GeneTests, 23GTR
See all sources

Genetic tests related to Distal Myopathy 4:

id Genetic test Affiliating Genes
1 Distal Myopathy 421 FLNC
2 Myopathy, Distal, 423

Anatomical Context for Distal Myopathy 4

About this section

Animal Models for Distal Myopathy 4 or affiliated genes

About this section

Publications for Distal Myopathy 4

About this section

Variations for Distal Myopathy 4

About this section
Sources:
65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
See all sources

UniProtKB/Swiss-Prot genetic disease variations for Distal Myopathy 4:

65
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

About this section
Sources:
2BioGPS, 16Gene Expression Omnibus DataSets
See all sources
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

About this section

Compounds for genes affiliated with Distal Myopathy 4

About this section

GO Terms for genes affiliated with Distal Myopathy 4

About this section

Products for genes affiliated with Distal Myopathy 4

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Distal Myopathy 4

About this section
4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet