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 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 muscle weakness and myopathy

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 9)
# Description HPO Frequency HPO Source Accession
1 muscle weakness 32 HP:0001324
2 myopathy 32 HP:0003198
3 cardiomyopathy 32 HP:0001638
4 hyporeflexia 32 HP:0001265
5 proximal muscle weakness 32 HP:0003701
6 mildly elevated creatine phosphokinase 32 HP:0008180
7 distal lower limb amyotrophy 32 HP:0008944
8 abnormality of the calf musculature 32 HP:0001430
9 distal upper limb amyotrophy 32 HP:0007149

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 1393)
# 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.577G> A (p.Ala193Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs387906587 GRCh37 Chromosome 7, 128475604: 128475604
4 FLNC NM_001458.4(FLNC): c.577G> A (p.Ala193Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs387906587 GRCh38 Chromosome 7, 128835550: 128835550
5 FLNC NM_001458.4(FLNC): c.1374C> T (p.Pro458=) single nucleotide variant Benign rs115140972 GRCh37 Chromosome 7, 128478820: 128478820
6 FLNC NM_001458.4(FLNC): c.1374C> T (p.Pro458=) single nucleotide variant Benign rs115140972 GRCh38 Chromosome 7, 128838766: 128838766
7 FLNC NM_001458.4(FLNC): c.1614C> T (p.Tyr538=) single nucleotide variant Benign rs76046880 GRCh37 Chromosome 7, 128480666: 128480666
8 FLNC NM_001458.4(FLNC): c.1614C> T (p.Tyr538=) single nucleotide variant Benign rs76046880 GRCh38 Chromosome 7, 128840612: 128840612
9 FLNC NM_001458.4(FLNC): c.2501C> T (p.Thr834Met) single nucleotide variant Benign rs75133741 GRCh37 Chromosome 7, 128482959: 128482959
10 FLNC NM_001458.4(FLNC): c.2501C> T (p.Thr834Met) single nucleotide variant Benign rs75133741 GRCh38 Chromosome 7, 128842905: 128842905
11 FLNC NM_001458.4(FLNC): c.3624G> A (p.Ala1208=) single nucleotide variant Benign rs35281128 GRCh37 Chromosome 7, 128485143: 128485143
12 FLNC NM_001458.4(FLNC): c.3624G> A (p.Ala1208=) single nucleotide variant Benign rs35281128 GRCh38 Chromosome 7, 128845089: 128845089
13 FLNC NM_001458.4(FLNC): c.3757G> A (p.Val1253Ile) single nucleotide variant Benign rs117366477 GRCh37 Chromosome 7, 128485276: 128485276
14 FLNC NM_001458.4(FLNC): c.3757G> A (p.Val1253Ile) single nucleotide variant Benign rs117366477 GRCh38 Chromosome 7, 128845222: 128845222
15 FLNC NM_001458.4(FLNC): c.3838C> T (p.Leu1280=) single nucleotide variant Benign rs34180031 GRCh37 Chromosome 7, 128486091: 128486091
16 FLNC NM_001458.4(FLNC): c.3838C> T (p.Leu1280=) single nucleotide variant Benign rs34180031 GRCh38 Chromosome 7, 128846037: 128846037
17 FLNC NM_001458.4(FLNC): c.5592C> T (p.Ala1864=) single nucleotide variant Benign rs117517372 GRCh37 Chromosome 7, 128491338: 128491338
18 FLNC NM_001458.4(FLNC): c.5592C> T (p.Ala1864=) single nucleotide variant Benign rs117517372 GRCh38 Chromosome 7, 128851284: 128851284
19 FLNC NM_001458.4(FLNC): c.6771A> G (p.Pro2257=) single nucleotide variant Benign rs34422412 GRCh37 Chromosome 7, 128494510: 128494510
20 FLNC NM_001458.4(FLNC): c.6771A> G (p.Pro2257=) single nucleotide variant Benign rs34422412 GRCh38 Chromosome 7, 128854456: 128854456
21 FLNC NM_001458.4(FLNC): c.7780+10A> G single nucleotide variant Benign/Likely benign rs201149834 GRCh37 Chromosome 7, 128497400: 128497400
22 FLNC NM_001458.4(FLNC): c.7780+10A> G single nucleotide variant Benign/Likely benign rs201149834 GRCh38 Chromosome 7, 128857346: 128857346
23 FLNC NM_001458.4(FLNC): c.8118C> T (p.Leu2706=) single nucleotide variant Benign rs28379666 GRCh37 Chromosome 7, 128498517: 128498517
24 FLNC NM_001458.4(FLNC): c.8118C> T (p.Leu2706=) single nucleotide variant Benign rs28379666 GRCh38 Chromosome 7, 128858463: 128858463
25 FLNC NM_001458.4(FLNC): c.8121T> C (p.Ile2707=) single nucleotide variant Benign rs28437296 GRCh37 Chromosome 7, 128498520: 128498520
26 FLNC NM_001458.4(FLNC): c.8121T> C (p.Ile2707=) single nucleotide variant Benign rs28437296 GRCh38 Chromosome 7, 128858466: 128858466
27 FLNC NM_001458.4(FLNC): c.1600G> A (p.Glu534Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs201905890 GRCh37 Chromosome 7, 128480652: 128480652
28 FLNC NM_001458.4(FLNC): c.1600G> A (p.Glu534Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs201905890 GRCh38 Chromosome 7, 128840598: 128840598
29 FLNC NM_001458.4(FLNC): c.1577G> A (p.Arg526Gln) single nucleotide variant Benign rs34932223 GRCh37 Chromosome 7, 128480629: 128480629
30 FLNC NM_001458.4(FLNC): c.1577G> A (p.Arg526Gln) single nucleotide variant Benign rs34932223 GRCh38 Chromosome 7, 128840575: 128840575
31 FLNC NM_001458.4(FLNC): c.1698C> T (p.Ser566=) single nucleotide variant Conflicting interpretations of pathogenicity rs112194548 GRCh37 Chromosome 7, 128480909: 128480909
32 FLNC NM_001458.4(FLNC): c.1698C> T (p.Ser566=) single nucleotide variant Conflicting interpretations of pathogenicity rs112194548 GRCh38 Chromosome 7, 128840855: 128840855
33 FLNC NM_001458.4(FLNC): c.1902G> A (p.Glu634=) single nucleotide variant Benign rs12536635 GRCh37 Chromosome 7, 128481312: 128481312
34 FLNC NM_001458.4(FLNC): c.1902G> A (p.Glu634=) single nucleotide variant Benign rs12536635 GRCh38 Chromosome 7, 128841258: 128841258
35 FLNC NM_001458.4(FLNC): c.2008-7C> T single nucleotide variant Conflicting interpretations of pathogenicity rs767576240 GRCh37 Chromosome 7, 128481501: 128481501
36 FLNC NM_001458.4(FLNC): c.2008-7C> T single nucleotide variant Conflicting interpretations of pathogenicity rs767576240 GRCh38 Chromosome 7, 128841447: 128841447
37 FLNC NM_001458.4(FLNC): c.597C> T (p.Ala199=) single nucleotide variant Benign/Likely benign rs143942649 GRCh37 Chromosome 7, 128475624: 128475624
38 FLNC NM_001458.4(FLNC): c.597C> T (p.Ala199=) single nucleotide variant Benign/Likely benign rs143942649 GRCh38 Chromosome 7, 128835570: 128835570
39 FLNC NM_001458.4(FLNC): c.3054C> T (p.Gly1018=) single nucleotide variant Uncertain significance rs769624093 GRCh37 Chromosome 7, 128484182: 128484182
40 FLNC NM_001458.4(FLNC): c.3054C> T (p.Gly1018=) single nucleotide variant Uncertain significance rs769624093 GRCh38 Chromosome 7, 128844128: 128844128
41 FLNC NM_001458.4(FLNC): c.3243G> A (p.Ala1081=) single nucleotide variant Conflicting interpretations of pathogenicity rs534482249 GRCh37 Chromosome 7, 128484762: 128484762
42 FLNC NM_001458.4(FLNC): c.3243G> A (p.Ala1081=) single nucleotide variant Conflicting interpretations of pathogenicity rs534482249 GRCh38 Chromosome 7, 128844708: 128844708
43 FLNC NM_001458.4(FLNC): c.3966C> T (p.Gly1322=) single nucleotide variant Conflicting interpretations of pathogenicity rs200237564 GRCh37 Chromosome 7, 128486356: 128486356
44 FLNC NM_001458.4(FLNC): c.3966C> T (p.Gly1322=) single nucleotide variant Conflicting interpretations of pathogenicity rs200237564 GRCh38 Chromosome 7, 128846302: 128846302
45 FLNC NM_001458.4(FLNC): c.4022G> A (p.Arg1341Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs149641783 GRCh37 Chromosome 7, 128486412: 128486412
46 FLNC NM_001458.4(FLNC): c.4022G> A (p.Arg1341Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs149641783 GRCh38 Chromosome 7, 128846358: 128846358
47 FLNC NM_001458.4(FLNC): c.4553A> G (p.Lys1518Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs201635205 GRCh37 Chromosome 7, 128488095: 128488095
48 FLNC NM_001458.4(FLNC): c.4553A> G (p.Lys1518Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs201635205 GRCh38 Chromosome 7, 128848041: 128848041
49 FLNC NM_001458.4(FLNC): c.4737+9_4737+10delCT deletion Benign rs794727437 GRCh37 Chromosome 7, 128488780: 128488781
50 FLNC NM_001458.4(FLNC): c.4737+9_4737+10delCT deletion Benign rs794727437 GRCh38 Chromosome 7, 128848726: 128848727

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....