MPD4
MCID: MYP095
MIFTS: 25

Myopathy, Distal, 4 (MPD4) malady

Categories: Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Myopathy, Distal, 4

Aliases & Descriptions for Myopathy, Distal, 4:

Name: Myopathy, Distal, 4 54 66 13 69
Williams Distal Myopathy 24 66
Distal Myopathy 4 24 29
Mpd4 24 66
Distal Myopathy with Posterior Leg and Anterior Hand Involvement 56
Distal Abd-Filaminopathy 56

Characteristics:

Orphanet epidemiological data:

56
distal myopathy with posterior leg and anterior hand involvement
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent,Adult;

HPO:

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


Classifications:

Orphanet: 56  
Rare neurological diseases


External Ids:

OMIM 54 614065
Orphanet 56 ORPHA63273
ICD10 via Orphanet 34 G71.0
MedGen 40 C3279722
MeSH 42 D049310

Summaries for Myopathy, Distal, 4

OMIM : 54 Williams distal myopathy is an autosomal dominant slowly progressive muscular disorder characterized by distal muscle... (614065) more...

MalaCards based summary : Myopathy, Distal, 4, is also known as williams distal myopathy, and has symptoms including muscle weakness, myopathy and cardiomyopathy. An important gene associated with Myopathy, Distal, 4 is FLNC (Filamin C). The drugs Tacrolimus and Calcineurin Inhibitors have been mentioned in the context of this disorder.

UniProtKB/Swiss-Prot : 66 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 by clinical synopsis from OMIM:

614065

Clinical features from OMIM:

614065

Human phenotypes related to Myopathy, Distal, 4:

32 (show all 8)
id 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 mildly elevated creatine phosphokinase 32 HP:0008180
6 distal lower limb amyotrophy 32 HP:0008944
7 distal upper limb amyotrophy 32 HP:0007149
8 abnormality of the calf musculature 32 HP:0001430

UMLS symptoms related to Myopathy, Distal, 4:


calf muscle weakness

Drugs & Therapeutics for Myopathy, Distal, 4

Drugs for Myopathy, Distal, 4 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 29)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Tacrolimus Approved, Investigational Phase 3 104987-11-3 445643 439492
2 Calcineurin Inhibitors Phase 3
3 Immunosuppressive Agents Phase 3
4
Salicylic acid Approved, Vet_approved Phase 1, Phase 2 69-72-7 338
5
Coal tar Approved Phase 2 8007-45-2
6
Halofuginone Investigational, Vet_approved Phase 2 55837-20-2 62894
7
Alginic acid Phase 1, Phase 2 9005-32-7
8 Angiogenesis Inhibitors Phase 2
9 Angiogenesis Modulating Agents Phase 2
10 Anti-Infective Agents Phase 2
11 Antiparasitic Agents Phase 2
12 Antiprotozoal Agents Phase 2
13
Cyproheptadine Approved 129-03-3 2913
14
Histamine Approved, Investigational 75614-87-8, 51-45-6 774
15
Benzocaine Approved 1994-09-7, 94-09-7 2337
16 tannic acid Approved, Nutraceutical
17 Anesthetics
18 Anti-Allergic Agents
19 Antipruritics
20 Chelating Agents
21 Dermatologic Agents
22 Gastrointestinal Agents
23 Histamine Antagonists
24 Histamine H1 Antagonists
25
Histamine Phosphate 51-74-1 65513
26 Neurotransmitter Agents
27
Serotonin 50-67-9 5202
28 Serotonin Agents
29 Serotonin Antagonists

Interventional clinical trials:

(show all 13)
id Name Status NCT ID Phase
1 Chronic Insertional Achilles Tendonitis Treated With or Without Flexor Hallucis Longus Tendon Transfer Completed NCT00950053 Phase 4
2 FK506 Phase 3 Study: a Study for Steroid Non-resistant Myasthenia Gravis (MG) Patients Completed NCT00309088 Phase 3
3 Phase 3 Randomized, Double-Blind, Placebo-Controlled Study to Evaluate Sialic Acid in Patients With GNE Myopathy (GNEM) or Hereditary Inclusion Body Myopathy (HIBM) Active, not recruiting NCT02377921 Phase 3
4 Study to Evaluate the Safety and Efficacy of Ace-ER Tablets in Patients With GNE Myopathy or Hereditary Inclusion Body Myopathy Enrolling by invitation NCT02736188 Phase 3
5 Treatment Outcomes for Temporomandibular Disorders (TMD) Via the Clayton Intra-aural Device (CID) Clinical Trial Completed NCT00815776 Phase 1, Phase 2
6 HT-100 Long-term Study in DMD Patients Who Completed HALO-DMD-02 Enrolling by invitation NCT02525302 Phase 2
7 Phase I Clinical Trial of ManNAc in Patients With GNE Myopathy or Hereditary Inclusion Body Myopathy (HIBM) Completed NCT01634750 Phase 1
8 Safety and Pharmacokinetics of Sialic Acid Tables in Patients With Hereditary Inclusion Body Myopathy (HIBM) Completed NCT01359319 Phase 1
9 Neuromuscular Transmission in Amyotrophic Lateral Sclerosis Completed NCT00847847
10 Stimulating Self Management in Patients With Fibromyalgia Through Web-based Situational Feedback Completed NCT01236209
11 Altering Activation Patterns Post-stroke Recruiting NCT02418949
12 The Effect Of Stretching Exercise on Pectoralis Minor Myofascial Latent Trigger Points Enrolling by invitation NCT02699294
13 Graded Motor Imagery for Women at Risk for Developing Type I CRPS Following Closed Treatment of Distal Radius Fractures Not yet recruiting NCT02957240

Search NIH Clinical Center for Myopathy, Distal, 4

Genetic Tests for Myopathy, Distal, 4

Genetic tests related to Myopathy, Distal, 4:

id Genetic test Affiliating Genes
1 Myopathy, Distal, 4 29
2 Distal Myopathy 4 24 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:

66
id 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
id 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.577G> A (p.Ala193Thr) single nucleotide variant Pathogenic/Likely pathogenic rs387906587 GRCh37 Chromosome 7, 128475604: 128475604

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
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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