MCID: DST024
MIFTS: 21

Distal Myopathy 4 malady

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

Summaries for Distal Myopathy 4

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OMIM:46 Williams distal myopathy is an autosomal dominant slowly progressive muscular disorder characterized by distal muscle...614065 more...

MalaCards based summary: Distal Myopathy 4, is also known as distal myopathy with posterior leg and anterior hand involvement, and has symptoms including autosomal dominant inheritance, hyporeflexia and muscle weakness. An important gene associated with Distal Myopathy 4 is FLNC (filamin C, gamma).

Aliases & Classifications for Distal Myopathy 4

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Sources:
21GeneTests, 23GTR, 46OMIM, 48Orphanet, 61UMLS, 27ICD10 via Orphanet
See all sources

Distal Myopathy 4, Aliases & Descriptions:

Name: Distal Myopathy 4 21 23
Distal Myopathy with Posterior Leg and Anterior Hand Involvement 48
Distal Muscular Dystrophies 61
 
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 Orphanet27 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 421 FLNC
2 Myopathy, Distal, 423

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:

63
id Symbol AA change Variation ID SNP ID
1FLNCp.Ala193ThrVAR_066212
2FLNCp.Met251ThrVAR_066213

Clinvar genetic disease variations for Distal Myopathy 4:

7
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
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Distal Myopathy 4

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
29IUPHAR
30KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet