MCID: MYP095
MIFTS: 19

Myopathy, Distal, 4

Categories: Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Myopathy, Distal, 4

MalaCards integrated aliases for Myopathy, Distal, 4:

Name: Myopathy, Distal, 4 57 75 29 13 6 73
Williams Distal Myopathy 57 75
Mpd4 57 75
Distal Myopathy with Posterior Leg and Anterior Hand Involvement 59
Distal Abd-Filaminopathy 59
Myopathy, Distal, Type 4 40

Characteristics:

Orphanet epidemiological data:

59
distal myopathy with posterior leg and anterior hand involvement
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent,Adult;

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
slowly progressive
patients remain ambulatory
variable age at onset, mostly in third decade (range teenage years to fourth decade)
two families have been reported (as of 6/2011)


HPO:

32
myopathy, distal, 4:
Onset and clinical course slow progression
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

OMIM 57 614065
Orphanet 59 ORPHA63273
ICD10 via Orphanet 34 G71.0
MedGen 42 C3279722
MeSH 44 D049310
UMLS 73 C3279722

Summaries for Myopathy, Distal, 4

OMIM : 57 Williams distal myopathy is an autosomal dominant slowly progressive muscular disorder characterized by distal muscle weakness and atrophy affecting the upper and lower limbs. Onset occurs around the third to fourth decades of life, and patients remain ambulatory even after long disease duration. Muscle biopsy shows nonspecific changes with no evidence of rods, necrosis, or inflammation (summary by Duff et al., 2011). Mutation in the FLNC gene can also cause myofibrillar myopathy-5 (MFM5; 609524), which shows a different pattern of muscle involvement and different histologic changes. (614065)

MalaCards based summary : Myopathy, Distal, 4, is also known as williams distal myopathy, and has symptoms including calf muscle weakness An important gene associated with Myopathy, Distal, 4 is FLNC (Filamin C). Related phenotypes are hyporeflexia and muscle weakness

UniProtKB/Swiss-Prot : 75 Myopathy, distal, 4: A slowly progressive muscular disorder characterized by distal muscle weakness and atrophy affecting the upper and lower limbs. Onset occurs around the third to fourth decades of life, and patients remain ambulatory even after long disease duration. Muscle biopsy shows non- specific changes with no evidence of rods, necrosis, or inflammation.

Related Diseases for Myopathy, Distal, 4

Symptoms & Phenotypes for Myopathy, Distal, 4

Symptoms via clinical synopsis from OMIM:

57
Muscle Soft Tissue:
type 1 fiber predominance
calf muscle weakness
muscle weakness, distal upper and lower limbs
muscle atrophy, distal upper and lower limbs
sparing of the anterior tibial compartment
more
Cardiovascular Heart:
cardiomyopathy (in 2 of 4 patients from 1 family)

Laboratory Abnormalities:
normal or mildly increased serum creatine kinase

Neurologic Peripheral Nervous System:
hyporeflexia in the lower limbs


Clinical features from OMIM:

614065

Human phenotypes related to Myopathy, Distal, 4:

32 (show all 8)
# Description HPO Frequency HPO Source Accession
1 hyporeflexia 32 HP:0001265
2 muscle weakness 32 HP:0001324
3 abnormality of the calf musculature 32 HP:0001430
4 cardiomyopathy 32 HP:0001638
5 myopathy 32 HP:0003198
6 distal upper limb amyotrophy 32 HP:0007149
7 mildly elevated creatine phosphokinase 32 HP:0008180
8 distal lower limb amyotrophy 32 HP:0008944

UMLS symptoms related to Myopathy, Distal, 4:


calf muscle weakness

Drugs & Therapeutics for Myopathy, Distal, 4

Search Clinical Trials , NIH Clinical Center for Myopathy, Distal, 4

Genetic Tests for Myopathy, Distal, 4

Genetic tests related to Myopathy, Distal, 4:

# Genetic test Affiliating Genes
1 Myopathy, Distal, 4 29 FLNC

Anatomical Context for Myopathy, Distal, 4

Publications for Myopathy, Distal, 4

Variations for Myopathy, Distal, 4

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

75
# Symbol AA change Variation ID SNP ID
1 FLNC p.Ala193Thr VAR_066212 rs387906587
2 FLNC p.Met251Thr VAR_066213 rs387906586

ClinVar genetic disease variations for Myopathy, Distal, 4:

6
(show top 50) (show all 1053)
# Gene Variation Type Significance SNP ID Assembly Location
1 FLNC NM_001458.4(FLNC): c.752T> C (p.Met251Thr) single nucleotide variant Pathogenic rs387906586 GRCh37 Chromosome 7, 128477504: 128477504
2 FLNC NM_001458.4(FLNC): c.752T> C (p.Met251Thr) single nucleotide variant Pathogenic rs387906586 GRCh38 Chromosome 7, 128837450: 128837450
3 FLNC NM_001458.4(FLNC): c.1600G> A (p.Glu534Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs201905890 GRCh37 Chromosome 7, 128480652: 128480652
4 FLNC NM_001458.4(FLNC): c.1600G> A (p.Glu534Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs201905890 GRCh38 Chromosome 7, 128840598: 128840598
5 FLNC NM_001458.4(FLNC): c.1577G> A (p.Arg526Gln) single nucleotide variant Benign rs34932223 GRCh37 Chromosome 7, 128480629: 128480629
6 FLNC NM_001458.4(FLNC): c.1577G> A (p.Arg526Gln) single nucleotide variant Benign rs34932223 GRCh38 Chromosome 7, 128840575: 128840575
7 FLNC NM_001458.4(FLNC): c.1698C> T (p.Ser566=) single nucleotide variant Conflicting interpretations of pathogenicity rs112194548 GRCh37 Chromosome 7, 128480909: 128480909
8 FLNC NM_001458.4(FLNC): c.1698C> T (p.Ser566=) single nucleotide variant Conflicting interpretations of pathogenicity rs112194548 GRCh38 Chromosome 7, 128840855: 128840855
9 FLNC NM_001458.4(FLNC): c.1902G> A (p.Glu634=) single nucleotide variant Benign rs12536635 GRCh37 Chromosome 7, 128481312: 128481312
10 FLNC NM_001458.4(FLNC): c.1902G> A (p.Glu634=) single nucleotide variant Benign rs12536635 GRCh38 Chromosome 7, 128841258: 128841258
11 FLNC NM_001458.4(FLNC): c.2008-7C> T single nucleotide variant Conflicting interpretations of pathogenicity rs767576240 GRCh37 Chromosome 7, 128481501: 128481501
12 FLNC NM_001458.4(FLNC): c.2008-7C> T single nucleotide variant Conflicting interpretations of pathogenicity rs767576240 GRCh38 Chromosome 7, 128841447: 128841447
13 FLNC NM_001458.4(FLNC): c.597C> T (p.Ala199=) single nucleotide variant Benign/Likely benign rs143942649 GRCh37 Chromosome 7, 128475624: 128475624
14 FLNC NM_001458.4(FLNC): c.597C> T (p.Ala199=) single nucleotide variant Benign/Likely benign rs143942649 GRCh38 Chromosome 7, 128835570: 128835570
15 FLNC NM_001458.4(FLNC): c.3054C> T (p.Gly1018=) single nucleotide variant Uncertain significance rs769624093 GRCh37 Chromosome 7, 128484182: 128484182
16 FLNC NM_001458.4(FLNC): c.3054C> T (p.Gly1018=) single nucleotide variant Uncertain significance rs769624093 GRCh38 Chromosome 7, 128844128: 128844128
17 FLNC NM_001458.4(FLNC): c.3243G> A (p.Ala1081=) single nucleotide variant Conflicting interpretations of pathogenicity rs534482249 GRCh37 Chromosome 7, 128484762: 128484762
18 FLNC NM_001458.4(FLNC): c.3243G> A (p.Ala1081=) single nucleotide variant Conflicting interpretations of pathogenicity rs534482249 GRCh38 Chromosome 7, 128844708: 128844708
19 FLNC NM_001458.4(FLNC): c.3966C> T (p.Gly1322=) single nucleotide variant Conflicting interpretations of pathogenicity rs200237564 GRCh37 Chromosome 7, 128486356: 128486356
20 FLNC NM_001458.4(FLNC): c.3966C> T (p.Gly1322=) single nucleotide variant Conflicting interpretations of pathogenicity rs200237564 GRCh38 Chromosome 7, 128846302: 128846302
21 FLNC NM_001458.4(FLNC): c.4022G> A (p.Arg1341Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs149641783 GRCh37 Chromosome 7, 128486412: 128486412
22 FLNC NM_001458.4(FLNC): c.4022G> A (p.Arg1341Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs149641783 GRCh38 Chromosome 7, 128846358: 128846358
23 FLNC NM_001458.4(FLNC): c.4553A> G (p.Lys1518Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs201635205 GRCh37 Chromosome 7, 128488095: 128488095
24 FLNC NM_001458.4(FLNC): c.4553A> G (p.Lys1518Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs201635205 GRCh38 Chromosome 7, 128848041: 128848041
25 FLNC NM_001458.4(FLNC): c.4737+9_4737+10delCT deletion Benign rs794727437 GRCh37 Chromosome 7, 128488780: 128488781
26 FLNC NM_001458.4(FLNC): c.4737+9_4737+10delCT deletion Benign rs794727437 GRCh38 Chromosome 7, 128848726: 128848727
27 FLNC NM_001458.4(FLNC): c.4928-7T> C single nucleotide variant Benign rs201957008 GRCh37 Chromosome 7, 128489228: 128489228
28 FLNC NM_001458.4(FLNC): c.4928-7T> C single nucleotide variant Benign rs201957008 GRCh38 Chromosome 7, 128849174: 128849174
29 FLNC NM_001458.4(FLNC): c.5042C> G (p.Thr1681Arg) single nucleotide variant Benign/Likely benign rs193159707 GRCh37 Chromosome 7, 128489475: 128489475
30 FLNC NM_001458.4(FLNC): c.5042C> G (p.Thr1681Arg) single nucleotide variant Benign/Likely benign rs193159707 GRCh38 Chromosome 7, 128849421: 128849421
31 FLNC NM_001458.4(FLNC): c.5375C> T (p.Ala1792Val) single nucleotide variant Uncertain significance rs200233856 GRCh37 Chromosome 7, 128490514: 128490514
32 FLNC NM_001458.4(FLNC): c.5375C> T (p.Ala1792Val) single nucleotide variant Uncertain significance rs200233856 GRCh38 Chromosome 7, 128850460: 128850460
33 FLNC NM_001458.4(FLNC): c.5578C> T (p.Arg1860Cys) single nucleotide variant Benign rs181067717 GRCh37 Chromosome 7, 128491324: 128491324
34 FLNC NM_001458.4(FLNC): c.5578C> T (p.Arg1860Cys) single nucleotide variant Benign rs181067717 GRCh38 Chromosome 7, 128851270: 128851270
35 FLNC NM_001458.4(FLNC): c.6005-9T> C single nucleotide variant Benign rs118124743 GRCh37 Chromosome 7, 128492873: 128492873
36 FLNC NM_001458.4(FLNC): c.6005-9T> C single nucleotide variant Benign rs118124743 GRCh38 Chromosome 7, 128852819: 128852819
37 FLNC NM_001458.4(FLNC): c.6309C> T (p.Thr2103=) single nucleotide variant Benign/Likely benign rs376992044 GRCh37 Chromosome 7, 128493623: 128493623
38 FLNC NM_001458.4(FLNC): c.6309C> T (p.Thr2103=) single nucleotide variant Benign/Likely benign rs376992044 GRCh38 Chromosome 7, 128853569: 128853569
39 FLNC NM_001458.4(FLNC): c.6441C> T (p.Ile2147=) single nucleotide variant Conflicting interpretations of pathogenicity rs762017885 GRCh37 Chromosome 7, 128493848: 128493848
40 FLNC NM_001458.4(FLNC): c.6441C> T (p.Ile2147=) single nucleotide variant Conflicting interpretations of pathogenicity rs762017885 GRCh38 Chromosome 7, 128853794: 128853794
41 FLNC NM_001458.4(FLNC): c.6459C> T (p.Thr2153=) single nucleotide variant Benign rs113618587 GRCh37 Chromosome 7, 128493866: 128493866
42 FLNC NM_001458.4(FLNC): c.6459C> T (p.Thr2153=) single nucleotide variant Benign rs113618587 GRCh38 Chromosome 7, 128853812: 128853812
43 FLNC NM_001458.4(FLNC): c.7091G> A (p.Arg2364His) single nucleotide variant Benign/Likely benign rs201672146 GRCh37 Chromosome 7, 128494922: 128494922
44 FLNC NM_001458.4(FLNC): c.7091G> A (p.Arg2364His) single nucleotide variant Benign/Likely benign rs201672146 GRCh38 Chromosome 7, 128854868: 128854868
45 FLNC NM_001458.4(FLNC): c.6998-5C> T single nucleotide variant Conflicting interpretations of pathogenicity rs139030003 GRCh37 Chromosome 7, 128494824: 128494824
46 FLNC NM_001458.4(FLNC): c.6998-5C> T single nucleotide variant Conflicting interpretations of pathogenicity rs139030003 GRCh38 Chromosome 7, 128854770: 128854770
47 FLNC NM_001458.4(FLNC): c.7289C> T (p.Ala2430Val) single nucleotide variant Uncertain significance rs200516164 GRCh37 Chromosome 7, 128496609: 128496609
48 FLNC NM_001458.4(FLNC): c.7289C> T (p.Ala2430Val) single nucleotide variant Uncertain significance rs200516164 GRCh38 Chromosome 7, 128856555: 128856555
49 FLNC NM_001458.4(FLNC): c.7862G> A (p.Arg2621Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs201636548 GRCh37 Chromosome 7, 128498143: 128498143
50 FLNC NM_001458.4(FLNC): c.7862G> A (p.Arg2621Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs201636548 GRCh38 Chromosome 7, 128858089: 128858089

Expression for Myopathy, Distal, 4

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

Pathways for Myopathy, Distal, 4

GO Terms for Myopathy, Distal, 4

Sources for Myopathy, Distal, 4

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69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
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74 UMLS via Orphanet
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