MPD4
MCID: MYP095
MIFTS: 20

Myopathy, Distal, 4 (MPD4)

Categories: Genetic diseases, Muscle diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Myopathy, Distal, 4

MalaCards integrated aliases for Myopathy, Distal, 4:

Name: Myopathy, Distal, 4 58 76 30 13 6 74
Williams Distal Myopathy 58 76
Mpd4 58 76
Distal Myopathy with Posterior Leg and Anterior Hand Involvement 60
Distal Abd-Filaminopathy 60
Myopathy, Distal, Type 4 41

Characteristics:

Orphanet epidemiological data:

60
distal myopathy with posterior leg and anterior hand involvement
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent,Adult;

OMIM:

58
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:

33
myopathy, distal, 4:
Onset and clinical course slow progression
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 60  
Rare neurological diseases


External Ids:

OMIM 58 614065
MeSH 45 D049310
ICD10 via Orphanet 35 G71.0
Orphanet 60 ORPHA63273
MedGen 43 C3279722
UMLS 74 C3279722

Summaries for Myopathy, Distal, 4

OMIM : 58 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 muscle weakness and myopathy

UniProtKB/Swiss-Prot : 76 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

Human phenotypes related to Myopathy, Distal, 4:

33 (show all 9)
# Description HPO Frequency HPO Source Accession
1 muscle weakness 33 HP:0001324
2 myopathy 33 HP:0003198
3 cardiomyopathy 33 HP:0001638
4 hyporeflexia 33 HP:0001265
5 proximal muscle weakness 33 HP:0003701
6 distal lower limb amyotrophy 33 HP:0008944
7 abnormality of the calf musculature 33 HP:0001430
8 distal upper limb amyotrophy 33 HP:0007149
9 mildly elevated creatine kinase 33 HP:0008180

Symptoms via clinical synopsis from OMIM:

58
Muscle Soft Tissue:
calf muscle weakness
type 1 fiber predominance
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

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 30 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:

76
# 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 1401)
# Gene Variation Type Significance SNP ID Assembly Location
1 FLNC NM_001458.4(FLNC): c.1600G> A (p.Glu534Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs201905890 GRCh37 Chromosome 7, 128480652: 128480652
2 FLNC NM_001458.4(FLNC): c.1600G> A (p.Glu534Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs201905890 GRCh38 Chromosome 7, 128840598: 128840598
3 FLNC NM_001458.4(FLNC): c.1577G> A (p.Arg526Gln) single nucleotide variant Benign rs34932223 GRCh37 Chromosome 7, 128480629: 128480629
4 FLNC NM_001458.4(FLNC): c.1577G> A (p.Arg526Gln) single nucleotide variant Benign rs34932223 GRCh38 Chromosome 7, 128840575: 128840575
5 FLNC NM_001458.4(FLNC): c.1698C> T (p.Ser566=) single nucleotide variant Conflicting interpretations of pathogenicity rs112194548 GRCh37 Chromosome 7, 128480909: 128480909
6 FLNC NM_001458.4(FLNC): c.1698C> T (p.Ser566=) single nucleotide variant Conflicting interpretations of pathogenicity rs112194548 GRCh38 Chromosome 7, 128840855: 128840855
7 FLNC NM_001458.4(FLNC): c.1902G> A (p.Glu634=) single nucleotide variant Benign rs12536635 GRCh37 Chromosome 7, 128481312: 128481312
8 FLNC NM_001458.4(FLNC): c.1902G> A (p.Glu634=) single nucleotide variant Benign rs12536635 GRCh38 Chromosome 7, 128841258: 128841258
9 FLNC NM_001458.4(FLNC): c.2008-7C> T single nucleotide variant Conflicting interpretations of pathogenicity rs767576240 GRCh37 Chromosome 7, 128481501: 128481501
10 FLNC NM_001458.4(FLNC): c.2008-7C> T single nucleotide variant Conflicting interpretations of pathogenicity rs767576240 GRCh38 Chromosome 7, 128841447: 128841447
11 FLNC NM_001458.4(FLNC): c.597C> T (p.Ala199=) single nucleotide variant Benign/Likely benign rs143942649 GRCh37 Chromosome 7, 128475624: 128475624
12 FLNC NM_001458.4(FLNC): c.597C> T (p.Ala199=) single nucleotide variant Benign/Likely benign rs143942649 GRCh38 Chromosome 7, 128835570: 128835570
13 FLNC NM_001458.4(FLNC): c.3054C> T (p.Gly1018=) single nucleotide variant Uncertain significance rs769624093 GRCh37 Chromosome 7, 128484182: 128484182
14 FLNC NM_001458.4(FLNC): c.3054C> T (p.Gly1018=) single nucleotide variant Uncertain significance rs769624093 GRCh38 Chromosome 7, 128844128: 128844128
15 FLNC NM_001458.4(FLNC): c.3243G> A (p.Ala1081=) single nucleotide variant Conflicting interpretations of pathogenicity rs534482249 GRCh37 Chromosome 7, 128484762: 128484762
16 FLNC NM_001458.4(FLNC): c.3243G> A (p.Ala1081=) single nucleotide variant Conflicting interpretations of pathogenicity rs534482249 GRCh38 Chromosome 7, 128844708: 128844708
17 FLNC NM_001458.4(FLNC): c.3966C> T (p.Gly1322=) single nucleotide variant Conflicting interpretations of pathogenicity rs200237564 GRCh37 Chromosome 7, 128486356: 128486356
18 FLNC NM_001458.4(FLNC): c.3966C> T (p.Gly1322=) single nucleotide variant Conflicting interpretations of pathogenicity rs200237564 GRCh38 Chromosome 7, 128846302: 128846302
19 FLNC NM_001458.4(FLNC): c.4022G> A (p.Arg1341Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs149641783 GRCh37 Chromosome 7, 128486412: 128486412
20 FLNC NM_001458.4(FLNC): c.4022G> A (p.Arg1341Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs149641783 GRCh38 Chromosome 7, 128846358: 128846358
21 FLNC NM_001458.4(FLNC): c.4553A> G (p.Lys1518Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs201635205 GRCh37 Chromosome 7, 128488095: 128488095
22 FLNC NM_001458.4(FLNC): c.4553A> G (p.Lys1518Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs201635205 GRCh38 Chromosome 7, 128848041: 128848041
23 FLNC NM_001458.4(FLNC): c.4737+9_4737+10delCT deletion Benign rs794727437 GRCh37 Chromosome 7, 128488780: 128488781
24 FLNC NM_001458.4(FLNC): c.4737+9_4737+10delCT deletion Benign rs794727437 GRCh38 Chromosome 7, 128848726: 128848727
25 FLNC NM_001458.4(FLNC): c.4928-7T> C single nucleotide variant Benign rs201957008 GRCh37 Chromosome 7, 128489228: 128489228
26 FLNC NM_001458.4(FLNC): c.4928-7T> C single nucleotide variant Benign rs201957008 GRCh38 Chromosome 7, 128849174: 128849174
27 FLNC NM_001458.4(FLNC): c.5042C> G (p.Thr1681Arg) single nucleotide variant Benign/Likely benign rs193159707 GRCh37 Chromosome 7, 128489475: 128489475
28 FLNC NM_001458.4(FLNC): c.5042C> G (p.Thr1681Arg) single nucleotide variant Benign/Likely benign rs193159707 GRCh38 Chromosome 7, 128849421: 128849421
29 FLNC NM_001458.4(FLNC): c.5375C> T (p.Ala1792Val) single nucleotide variant Uncertain significance rs200233856 GRCh37 Chromosome 7, 128490514: 128490514
30 FLNC NM_001458.4(FLNC): c.5375C> T (p.Ala1792Val) single nucleotide variant Uncertain significance rs200233856 GRCh38 Chromosome 7, 128850460: 128850460
31 FLNC NM_001458.4(FLNC): c.5578C> T (p.Arg1860Cys) single nucleotide variant Benign/Likely benign rs181067717 GRCh37 Chromosome 7, 128491324: 128491324
32 FLNC NM_001458.4(FLNC): c.5578C> T (p.Arg1860Cys) single nucleotide variant Benign/Likely benign rs181067717 GRCh38 Chromosome 7, 128851270: 128851270
33 FLNC NM_001458.4(FLNC): c.6005-9T> C single nucleotide variant Benign rs118124743 GRCh37 Chromosome 7, 128492873: 128492873
34 FLNC NM_001458.4(FLNC): c.6005-9T> C single nucleotide variant Benign rs118124743 GRCh38 Chromosome 7, 128852819: 128852819
35 FLNC NM_001458.4(FLNC): c.6309C> T (p.Thr2103=) single nucleotide variant Benign/Likely benign rs376992044 GRCh37 Chromosome 7, 128493623: 128493623
36 FLNC NM_001458.4(FLNC): c.6309C> T (p.Thr2103=) single nucleotide variant Benign/Likely benign rs376992044 GRCh38 Chromosome 7, 128853569: 128853569
37 FLNC NM_001458.4(FLNC): c.6441C> T (p.Ile2147=) single nucleotide variant Conflicting interpretations of pathogenicity rs762017885 GRCh37 Chromosome 7, 128493848: 128493848
38 FLNC NM_001458.4(FLNC): c.6441C> T (p.Ile2147=) single nucleotide variant Conflicting interpretations of pathogenicity rs762017885 GRCh38 Chromosome 7, 128853794: 128853794
39 FLNC NM_001458.4(FLNC): c.6459C> T (p.Thr2153=) single nucleotide variant Benign rs113618587 GRCh37 Chromosome 7, 128493866: 128493866
40 FLNC NM_001458.4(FLNC): c.6459C> T (p.Thr2153=) single nucleotide variant Benign rs113618587 GRCh38 Chromosome 7, 128853812: 128853812
41 FLNC NM_001458.4(FLNC): c.7091G> A (p.Arg2364His) single nucleotide variant Benign/Likely benign rs201672146 GRCh37 Chromosome 7, 128494922: 128494922
42 FLNC NM_001458.4(FLNC): c.7091G> A (p.Arg2364His) single nucleotide variant Benign/Likely benign rs201672146 GRCh38 Chromosome 7, 128854868: 128854868
43 FLNC NM_001458.4(FLNC): c.6998-5C> T single nucleotide variant Conflicting interpretations of pathogenicity rs139030003 GRCh37 Chromosome 7, 128494824: 128494824
44 FLNC NM_001458.4(FLNC): c.6998-5C> T single nucleotide variant Conflicting interpretations of pathogenicity rs139030003 GRCh38 Chromosome 7, 128854770: 128854770
45 FLNC NM_001458.4(FLNC): c.7289C> T (p.Ala2430Val) single nucleotide variant Uncertain significance rs200516164 GRCh37 Chromosome 7, 128496609: 128496609
46 FLNC NM_001458.4(FLNC): c.7289C> T (p.Ala2430Val) single nucleotide variant Uncertain significance rs200516164 GRCh38 Chromosome 7, 128856555: 128856555
47 FLNC NM_001458.4(FLNC): c.7862G> A (p.Arg2621Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs201636548 GRCh37 Chromosome 7, 128498143: 128498143
48 FLNC NM_001458.4(FLNC): c.7862G> A (p.Arg2621Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs201636548 GRCh38 Chromosome 7, 128858089: 128858089
49 FLNC NM_001458.4(FLNC): c.8003T> C (p.Met2668Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs200502811 GRCh38 Chromosome 7, 128858348: 128858348
50 FLNC NM_001458.4(FLNC): c.8003T> C (p.Met2668Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs200502811 GRCh37 Chromosome 7, 128498402: 128498402

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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63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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