OPDM2
MCID: OCL080
MIFTS: 19

Oculopharyngodistal Myopathy 2 (OPDM2)

Categories: Eye diseases, Fetal diseases, Genetic diseases, Muscle diseases, Neuronal diseases, Rare diseases, Respiratory diseases

Aliases & Classifications for Oculopharyngodistal Myopathy 2

MalaCards integrated aliases for Oculopharyngodistal Myopathy 2:

Name: Oculopharyngodistal Myopathy 2 57 73 6
Opdm2 57 73
Myopathy, Oculopharyngodistal, Type 2 39

Characteristics:

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
autosomal dominant

Miscellaneous:
slowly progressive
onset in second or third decade


HPO:

31
oculopharyngodistal myopathy 2:
Inheritance autosomal dominant inheritance
Onset and clinical course young adult onset


Classifications:



External Ids:

OMIM® 57 618940
OMIM Phenotypic Series 57 PS164310
MeSH 44 D039141
MedGen 41 CN283268

Summaries for Oculopharyngodistal Myopathy 2

OMIM® : 57 Oculopharyngodistal myopathy-2 (OPDM2) is an autosomal dominant muscle disorder characterized by onset of distal muscle weakness, mainly of the lower limbs, and/or ophthalmoplegia in the second or third decades of life. The disorder is slowly progressive, and patients develop facial weakness, bulbar weakness, and difficulty walking or climbing stairs. Some patients may have upper limb involvement and subclinical respiratory insufficiency. Laboratory studies show increased serum creatine kinase; skeletal muscle biopsy shows myopathic changes with abnormal cytoplasmic and intranuclear inclusions (summary by Deng et al., 2020). For a discussion of genetic heterogeneity of OPDM, see OPDM1 (164310). (618940) (Updated 05-Mar-2021)

MalaCards based summary : Oculopharyngodistal Myopathy 2, is also known as opdm2. An important gene associated with Oculopharyngodistal Myopathy 2 is GIPC1 (GIPC PDZ Domain Containing Family Member 1). Affiliated tissues include skeletal muscle, and related phenotypes are ptosis and elevated serum creatine kinase

UniProtKB/Swiss-Prot : 73 Oculopharyngodistal myopathy 2: A form of oculopharyngodistal myopathy, a muscle disorder characterized by progressive ptosis, external ophthalmoplegia, and weakness of the masseter, facial, pharyngeal, and distal limb muscles. The myopathological features are presence of rimmed vacuoles in the muscle fibers and myopathic changes of differing severity. OPDM2 inheritance pattern is autosomal dominant.

Related Diseases for Oculopharyngodistal Myopathy 2

Diseases in the Oculopharyngodistal Myopathy 1 family:

Oculopharyngodistal Myopathy 2

Symptoms & Phenotypes for Oculopharyngodistal Myopathy 2

Human phenotypes related to Oculopharyngodistal Myopathy 2:

31 (show all 11)
# Description HPO Frequency HPO Source Accession
1 ptosis 31 very rare (1%) HP:0000508
2 elevated serum creatine kinase 31 very rare (1%) HP:0003236
3 emg: myopathic abnormalities 31 very rare (1%) HP:0003458
4 rimmed vacuoles 31 very rare (1%) HP:0003805
5 external ophthalmoplegia 31 very rare (1%) HP:0000544
6 distal muscle weakness 31 very rare (1%) HP:0002460
7 increased variability in muscle fiber diameter 31 very rare (1%) HP:0003557
8 bulbar palsy 31 very rare (1%) HP:0001283
9 fatty replacement of skeletal muscle 31 very rare (1%) HP:0012548
10 increased endomysial connective tissue 31 very rare (1%) HP:0100297
11 weakness of facial musculature 31 very rare (1%) HP:0030319

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Head And Neck Eyes:
ptosis
ophthalmoplegia

Muscle Soft Tissue:
myopathy
difficulty climbing stairs
muscle weakness, distal
fiber size variation
upper limbs affected
more
Head And Neck Face:
facial muscle weakness
bulbar muscle weakness
facial muscle atrophy

Voice:
nasal voice

Abdomen Gastrointestinal:
dysphagia

Respiratory:
velopharyngeal insufficiency
respiratory involvement (in some patients)
decreased forced vital capacity (in some patients)

Laboratory Abnormalities:
increased serum creatine kinase

Clinical features from OMIM®:

618940 (Updated 05-Mar-2021)

Drugs & Therapeutics for Oculopharyngodistal Myopathy 2

Search Clinical Trials , NIH Clinical Center for Oculopharyngodistal Myopathy 2

Genetic Tests for Oculopharyngodistal Myopathy 2

Anatomical Context for Oculopharyngodistal Myopathy 2

MalaCards organs/tissues related to Oculopharyngodistal Myopathy 2:

40
Skeletal Muscle

Publications for Oculopharyngodistal Myopathy 2

Articles related to Oculopharyngodistal Myopathy 2:

# Title Authors PMID Year
1
Expansion of GGC Repeat in GIPC1 Is Associated with Oculopharyngodistal Myopathy. 57
32413282 2020
2
Clinical and muscle imaging findings in 14 mainland chinese patients with oculopharyngodistal myopathy. 57
26039504 2015
3
The clinical and myopathological features of oculopharyngodistal myopathy in a Chinese family. 57
18503509 2008
4
GIPC, a PDZ domain containing protein, interacts specifically with the C terminus of RGS-GAIP. 6
9770488 1998

Variations for Oculopharyngodistal Myopathy 2

ClinVar genetic disease variations for Oculopharyngodistal Myopathy 2:

6
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 GIPC1 NM_005716.4:c.-211GGC[(73_?)] Microsatellite Pathogenic 972742

Expression for Oculopharyngodistal Myopathy 2

Search GEO for disease gene expression data for Oculopharyngodistal Myopathy 2.

Pathways for Oculopharyngodistal Myopathy 2

GO Terms for Oculopharyngodistal Myopathy 2

Sources for Oculopharyngodistal Myopathy 2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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