OPML1
MCID: OCL077
MIFTS: 12

Oculopharyngeal Myopathy with Leukoencephalopathy 1 (OPML1)

Categories: Genetic diseases

Aliases & Classifications for Oculopharyngeal Myopathy with Leukoencephalopathy 1

MalaCards integrated aliases for Oculopharyngeal Myopathy with Leukoencephalopathy 1:

Name: Oculopharyngeal Myopathy with Leukoencephalopathy 1 56 6
Opml1 56

Characteristics:

OMIM:

56
Miscellaneous:
adult onset
progressive disorder
one japanese family has been reported (last curated october 2019)

Inheritance:
autosomal dominant


Classifications:



External Ids:

OMIM 56 618637

Summaries for Oculopharyngeal Myopathy with Leukoencephalopathy 1

MalaCards based summary : Oculopharyngeal Myopathy with Leukoencephalopathy 1, is also known as opml1. An important gene associated with Oculopharyngeal Myopathy with Leukoencephalopathy 1 is NUTM2B-AS1 (NUTM2B Antisense RNA 1). Affiliated tissues include eye, brain and skeletal muscle.

More information from OMIM: 618637

Related Diseases for Oculopharyngeal Myopathy with Leukoencephalopathy 1

Symptoms & Phenotypes for Oculopharyngeal Myopathy with Leukoencephalopathy 1

Symptoms via clinical synopsis from OMIM:

56
Neurologic Central Nervous System:
brain atrophy
ataxia
dysarthria
tremor
leukoencephalopathy
more
Abdomen Gastrointestinal:
dysphagia
gastrointestinal dysmotility

Head And Neck Face:
facial muscle weakness

Cardiovascular Heart:
dilated cardiomyopathy (uncommon)

Head And Neck Eyes:
ptosis
external ophthalmoplegia
restricted eye movements

Muscle Soft Tissue:
limb muscle weakness
nonspecific myopathic changes on skeletal muscle biopsy

Respiratory:
respiratory failure (in some patients)

Genitourinary Bladder:
bladder disturbances

Clinical features from OMIM:

618637

Drugs & Therapeutics for Oculopharyngeal Myopathy with Leukoencephalopathy 1

Search Clinical Trials , NIH Clinical Center for Oculopharyngeal Myopathy with Leukoencephalopathy 1

Genetic Tests for Oculopharyngeal Myopathy with Leukoencephalopathy 1

Anatomical Context for Oculopharyngeal Myopathy with Leukoencephalopathy 1

MalaCards organs/tissues related to Oculopharyngeal Myopathy with Leukoencephalopathy 1:

40
Eye, Brain, Skeletal Muscle

Publications for Oculopharyngeal Myopathy with Leukoencephalopathy 1

Articles related to Oculopharyngeal Myopathy with Leukoencephalopathy 1:

# Title Authors PMID Year
1
Noncoding CGG repeat expansions in neuronal intranuclear inclusion disease, oculopharyngodistal myopathy and an overlapping disease. 6 56
31332380 2019

Variations for Oculopharyngeal Myopathy with Leukoencephalopathy 1

ClinVar genetic disease variations for Oculopharyngeal Myopathy with Leukoencephalopathy 1:

6 ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 NUTM2B-AS1 NUTM2B-AS1, (CCG)n REPEAT EXPANSIONundetermined variant Pathogenic 692219

Expression for Oculopharyngeal Myopathy with Leukoencephalopathy 1

Search GEO for disease gene expression data for Oculopharyngeal Myopathy with Leukoencephalopathy 1.

Pathways for Oculopharyngeal Myopathy with Leukoencephalopathy 1

GO Terms for Oculopharyngeal Myopathy with Leukoencephalopathy 1

Sources for Oculopharyngeal Myopathy with Leukoencephalopathy 1

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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