MCID: DST024
MIFTS: 18

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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MalaCards based summary: Distal Myopathy 4, is also known as distal myopathy with posterior leg and anterior hand involvement and has symptoms including 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:
20GeneTests, 22GTR, 46OMIM, 48Orphanet, 62UMLS, 26ICD10 via Orphanet
See all sources

Distal Myopathy 4, Aliases & Descriptions:

Name: Distal Myopathy 4 20 22
Distal Myopathy with Posterior Leg and Anterior Hand Involvement 48
Distal Muscular Dystrophies 62
 
Distal Abd-Filaminopathy 48
Myopathy, Distal, 4 46


Classifications:

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


External Ids:

OMIM46 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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Symptoms by clinical synopsis from OMIM:

614065

Clinical features from OMIM:

614065

HPO human phenotypes related to Distal Myopathy 4:

(show all 9)
id Description Frequency HPO Source Accession
1 autosomal dominant inheritance HP:0000006
2 hyporeflexia HP:0001265
3 muscle weakness HP:0001324
4 abnormality of the calf musculature HP:0001430
5 myopathy HP:0003198
6 slow progression HP:0003677
7 distal upper limb amyotrophy HP:0007149
8 mildly elevated creatine phosphokinase HP:0008180
9 distal lower limb amyotrophy HP:0008944

Drugs & Therapeutics for Distal Myopathy 4

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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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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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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:

6
id Gene Name Type Significance SNP ID Assembly Location
1FLNCNM_001458.4(FLNC): c.752T> C (p.Met251Thr)single nucleotide variantPathogenicrs387906586GRCh37Chr 7, 128477504: 128477504
2FLNCNM_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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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

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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet