MPD5
MCID: MYP116
MIFTS: 24

Myopathy, Distal, 5 (MPD5)

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

Aliases & Classifications for Myopathy, Distal, 5

MalaCards integrated aliases for Myopathy, Distal, 5:

Name: Myopathy, Distal, 5 56 73 29 6
Mpd5 56 73
Adenylosuccinate Synthetase-Like 1-Related Distal Myopathy 58
Adssl1-Related Distal Myopathy 58

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
slowly progressive
onset in adolescence (13 to 15 years)
patients remain ambulatory even after long disease duration
two unrelated korean families have been reported (last curated july 2016)


HPO:

31
myopathy, distal, 5:
Inheritance autosomal recessive inheritance
Onset and clinical course slow progression


Classifications:

Orphanet: 58  
Rare neurological diseases


Summaries for Myopathy, Distal, 5

OMIM : 56 Distal myopathy-5 is an autosomal recessive, slowly progressive muscle disorder characterized by adolescent onset of distal muscle weakness and atrophy predominantly affecting the lower limbs. Other features include facial weakness and hyporeflexia. Patients remain ambulatory even after long disease duration (summary by Park et al., 2016). (617030)

MalaCards based summary : Myopathy, Distal, 5, also known as mpd5, is related to polycythemia vera and polycythemia. An important gene associated with Myopathy, Distal, 5 is ADSS1 (Adenylosuccinate Synthase 1). Affiliated tissues include bone, and related phenotypes are unsteady gait and foot dorsiflexor weakness

UniProtKB/Swiss-Prot : 73 Myopathy, distal, 5: A form of distal myopathy, a group of muscular disorders characterized by progressive muscular weakness and muscle atrophy beginning in the hands, the legs or the feet. MPD5 is an autosomal recessive form, predominantly affecting the lower limbs.

Related Diseases for Myopathy, Distal, 5

Symptoms & Phenotypes for Myopathy, Distal, 5

Human phenotypes related to Myopathy, Distal, 5:

58 31 (show all 30)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 unsteady gait 58 31 hallmark (90%) Very frequent (99-80%) HP:0002317
2 foot dorsiflexor weakness 58 31 frequent (33%) Frequent (79-30%) HP:0009027
3 distal lower limb muscle weakness 58 31 frequent (33%) Frequent (79-30%) HP:0009053
4 difficulty climbing stairs 58 31 frequent (33%) Frequent (79-30%) HP:0003551
5 difficulty running 58 31 frequent (33%) Frequent (79-30%) HP:0009046
6 quadriceps muscle weakness 58 31 frequent (33%) Frequent (79-30%) HP:0003731
7 distal upper limb muscle weakness 58 31 frequent (33%) Frequent (79-30%) HP:0008959
8 quadriceps muscle atrophy 58 31 frequent (33%) Frequent (79-30%) HP:0009050
9 distal lower limb amyotrophy 58 31 frequent (33%) Frequent (79-30%) HP:0008944
10 weakness of facial musculature 58 31 frequent (33%) Frequent (79-30%) HP:0030319
11 upper limb amyotrophy 58 31 frequent (33%) Frequent (79-30%) HP:0009129
12 tip-toe gait 58 31 frequent (33%) Frequent (79-30%) HP:0030051
13 triceps weakness 58 31 frequent (33%) Frequent (79-30%) HP:0031108
14 inability to walk 58 31 occasional (7.5%) Occasional (29-5%) HP:0002540
15 frequent falls 58 31 occasional (7.5%) Occasional (29-5%) HP:0002359
16 steppage gait 58 31 occasional (7.5%) Occasional (29-5%) HP:0003376
17 decreased achilles reflex 58 31 occasional (7.5%) Occasional (29-5%) HP:0009072
18 impaired mastication 58 31 very rare (1%) Very rare (<4-1%) HP:0005216
19 pseudobulbar signs 58 31 very rare (1%) Very rare (<4-1%) HP:0002200
20 facial palsy 31 HP:0010628
21 myopathy 31 HP:0003198
22 reduced tendon reflexes 58 Frequent (79-30%)
23 rimmed vacuoles 31 HP:0003805
24 proximal muscle weakness in lower limbs 58 Frequent (79-30%)
25 distal amyotrophy 31 HP:0003693
26 muscle fiber splitting 31 HP:0003555
27 sensory impairment 58 Excluded (0%)
28 lower limb amyotrophy 58 Frequent (79-30%)
29 hyporeflexia of lower limbs 31 HP:0002600
30 mildly elevated creatine kinase 31 HP:0008180

Symptoms via clinical synopsis from OMIM:

56
Laboratory Abnormalities:
mildly increased serum creatine kinase

Muscle Soft Tissue:
type 1 fiber predominance
fiber splitting
variation in fiber size
internal nuclei
dystrophic changes seen on muscle biopsy
more
Head And Neck Face:
facial weakness

Neurologic Peripheral Nervous System:
hyporeflexia, lower limbs

Clinical features from OMIM:

617030

Drugs & Therapeutics for Myopathy, Distal, 5

Search Clinical Trials , NIH Clinical Center for Myopathy, Distal, 5

Genetic Tests for Myopathy, Distal, 5

Genetic tests related to Myopathy, Distal, 5:

# Genetic test Affiliating Genes
1 Myopathy, Distal, 5 29 ADSS1

Anatomical Context for Myopathy, Distal, 5

MalaCards organs/tissues related to Myopathy, Distal, 5:

40
Bone

Publications for Myopathy, Distal, 5

Articles related to Myopathy, Distal, 5:

# Title Authors PMID Year
1
ADSSL1 mutation relevant to autosomal recessive adolescent onset distal myopathy. 56 6
26506222 2016
2
A novel unconventional antigen MPD5 elicits anti-tumor humoral immune responses in a subset of patients with polycythemia vera. 61
17624250 2007

Variations for Myopathy, Distal, 5

ClinVar genetic disease variations for Myopathy, Distal, 5:

6 ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 ADSS1 NM_152328.4(ADSS1):c.919del (p.Ile307fs)deletion Pathogenic 243026 rs559454746 14:105208310-105208310 14:104741973-104741973
2 ADSS1 NM_152328.4(ADSS1):c.781G>A (p.Asp261Asn)SNV Pathogenic/Likely pathogenic 243025 rs140614802 14:105207568-105207568 14:104741231-104741231
3 ADSS1 NM_152328.4(ADSS1):c.36dup (p.Gly13fs)duplication Uncertain significance 634635 rs781559734 14:105190637-105190638 14:104724300-104724301

UniProtKB/Swiss-Prot genetic disease variations for Myopathy, Distal, 5:

73
# Symbol AA change Variation ID SNP ID
1 ADSS1 p.Asp261Asn VAR_076998 rs140614802

Expression for Myopathy, Distal, 5

Search GEO for disease gene expression data for Myopathy, Distal, 5.

Pathways for Myopathy, Distal, 5

GO Terms for Myopathy, Distal, 5

Sources for Myopathy, Distal, 5

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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