MCID: OCL063
MIFTS: 26

Oculopharyngodistal Myopathy

Categories: Rare diseases, Neuronal diseases, Eye diseases

Aliases & Classifications for Oculopharyngodistal Myopathy

MalaCards integrated aliases for Oculopharyngodistal Myopathy:

Name: Oculopharyngodistal Myopathy 54 50 56 29 69
Oculopharyngeal Distal Myopathy 50 56
Opdm 50 56

Characteristics:

Orphanet epidemiological data:

56
oculopharyngodistal myopathy
Inheritance: Autosomal dominant,Autosomal recessive;

OMIM:

54
Inheritance:
autosomal dominant
autosomal recessive

Miscellaneous:
slowly progressive disorder
mean age at onset 22 years (range 7 to 50 years)
ptosis is usually presenting feature
other muscle become involved about 5 years after onset
highly variable severity of muscle weakness
both autosomal dominant and autosomal recessive inheritance have been described


HPO:

32
oculopharyngodistal myopathy:
Onset and clinical course slow progression
Inheritance autosomal recessive inheritance autosomal dominant inheritance


Classifications:



Summaries for Oculopharyngodistal Myopathy

OMIM : 54
Oculopharyngodistal myopathy (OPDM) is characterized by adult-onset of eye and facial muscle weakness, distal muscle weakness and atrophy, and pharyngeal involvement, resulting in dysphagia and dysarthria. There are variable manifestations of the disorder regarding muscle involvement and severity. Both autosomal recessive and autosomal dominant inheritance have been reported. OPDM is considered distinct from oculopharyngeal muscular dystrophy (OPMD; 164300), which is caused by mutation in the PABPN1 gene (602279) (summary by Durmus et al., 2011). (164310)

MalaCards based summary : Oculopharyngodistal Myopathy, also known as oculopharyngeal distal myopathy, is related to myopathy and oculopharyngeal muscular dystrophy, and has symptoms including dysphagia, dysarthria and ptosis. An important gene associated with Oculopharyngodistal Myopathy is GNE (Glucosamine (UDP-N-Acetyl)-2-Epimerase/N-Acetylmannosamine Kinase). Affiliated tissues include eye and tongue.

Related Diseases for Oculopharyngodistal Myopathy

Diseases related to Oculopharyngodistal Myopathy via text searches within MalaCards or GeneCards Suite gene sharing:

id Related Disease Score Top Affiliating Genes
1 myopathy 10.5
2 oculopharyngeal muscular dystrophy 10.0
3 muscular dystrophy 10.0
4 cardiomyopathy 9.9
5 intestinal pseudo-obstruction 9.9
6 corneal dystrophy, subepithelial mucinous 9.5 GNE PABPN1
7 clear cell sarcoma 9.5 GNE PABPN1
8 eosinophilic variant of chromophobe renal cell carcinoma 9.4 GNE PABPN1
9 spongiotic dermatitis 9.2 GNE PABPN1

Graphical network of the top 20 diseases related to Oculopharyngodistal Myopathy:



Diseases related to Oculopharyngodistal Myopathy

Symptoms & Phenotypes for Oculopharyngodistal Myopathy

Symptoms via clinical synopsis from OMIM:

54

Head And Neck- Mouth:
high-arched palate
tongue weakness

Voice:
dysarthria
nasal voice

Neurologic- Peripheral Nervous System:
areflexia

Respiratory:
respiratory insufficiency due to muscle weakness
restrictive ventilatory defect
recurrent pneumonia due to aspiration

Respiratory- Larynx:
bowing of the vocal cords
laryngeal weakness

Head And Neck- Ears:
hearing loss, sensorineural (less common)

Laboratory- Abnormalities:
serum creatine kinase may be normal or increased

Abdomen- Gastroin testinal:
dysphagia

Head And Neck- Eyes:
ptosis
external ophthalmoplegia

Muscle Soft Tissue:
foot drop
distal muscle weakness
proximal muscle weakness
rimmed vacuoles
difficulty walking
more
Head And Neck- Face:
facial muscle weakness
myopathic face
facial muscle atrophy

Respiratory- Nasopharynx:
pharyngeal weakness

Growth- Weight:
weight loss due to dysphagia


Clinical features from OMIM:

164310

Human phenotypes related to Oculopharyngodistal Myopathy:

32 (show all 21)
id Description HPO Frequency HPO Source Accession
1 dysphagia 32 HP:0002015
2 dysarthria 32 HP:0001260
3 ptosis 32 HP:0000508
4 myopathic facies 32 HP:0002058
5 areflexia 32 HP:0001284
6 respiratory insufficiency due to muscle weakness 32 HP:0002747
7 distal muscle weakness 32 HP:0002460
8 high palate 32 HP:0000218
9 proximal muscle weakness 32 HP:0003701
10 nasal speech 32 HP:0001611
11 rimmed vacuoles 32 HP:0003805
12 difficulty walking 32 HP:0002355
13 sensorineural hearing impairment 32 occasional (7.5%) HP:0000407
14 external ophthalmoplegia 32 HP:0000544
15 distal amyotrophy 32 HP:0003693
16 facial palsy 32 HP:0010628
17 bowing of the vocal cords 32 HP:0008756
18 elevated serum creatine phosphokinase 32 occasional (7.5%) HP:0003236
19 increased variability in muscle fiber diameter 32 HP:0003557
20 foot dorsiflexor weakness 32 HP:0009027
21 emg 32 HP:0003458

UMLS symptoms related to Oculopharyngodistal Myopathy:


facial paresis

Drugs & Therapeutics for Oculopharyngodistal Myopathy

Search Clinical Trials , NIH Clinical Center for Oculopharyngodistal Myopathy

Genetic Tests for Oculopharyngodistal Myopathy

Genetic tests related to Oculopharyngodistal Myopathy:

id Genetic test Affiliating Genes
1 Oculopharyngodistal Myopathy 29

Anatomical Context for Oculopharyngodistal Myopathy

MalaCards organs/tissues related to Oculopharyngodistal Myopathy:

39
Eye, Tongue

Publications for Oculopharyngodistal Myopathy

Articles related to Oculopharyngodistal Myopathy:

(show all 14)
id Title Authors Year
1
Clinical and muscle imaging findings in 14 mainland chinese patients with oculopharyngodistal myopathy. ( 26039504 )
2015
2
Surgical treatment of severe blepharoptosis and facial palsy caused by oculopharyngodistal myopathy. ( 23602269 )
2013
3
The first Italian patient with oculopharyngodistal myopathy: case report and considerations on differential diagnosis. ( 22652077 )
2012
4
Oculopharyngodistal myopathy--a possible association with cardiomyopathy. ( 21041087 )
2011
5
Oculopharyngodistal myopathy is a distinct entity: clinical and genetic features of 47 patients. ( 21242490 )
2011
6
Oculopharyngodistal myopathy and acquired noncompaction. ( 21600770 )
2011
7
The clinical and myopathological features of oculopharyngodistal myopathy in a Chinese family. ( 18503509 )
2008
8
Autosomal recessive oculopharyngodistal myopathy: a distinct phenotypical, histological, and genetic entity. ( 15377709 )
2004
9
Oculopharyngodistal myopathy in a Thai family. ( 15822551 )
2004
10
Oculopharyngodistal myopathy is genetically heterogeneous and most cases are distinct from oculopharyngeal muscular dystrophy. ( 11595511 )
2001
11
Autosomal recessive oculopharyngodistal myopathy in light of distal myopathy with rimmed vacuoles and oculopharyngeal muscular dystrophy. ( 9608566 )
1998
12
Childhood-onset oculopharyngodistal myopathy with chronic intestinal pseudo-obstruction. ( 7630344 )
1995
13
Oculopharyngodistal myopathy. ( 836191 )
1977
14
Oculopharyngodistal myopathy with early onset and neurogenic features. ( 216518 )
1977

Variations for Oculopharyngodistal Myopathy

Expression for Oculopharyngodistal Myopathy

Search GEO for disease gene expression data for Oculopharyngodistal Myopathy.

Pathways for Oculopharyngodistal Myopathy

GO Terms for Oculopharyngodistal Myopathy

Sources for Oculopharyngodistal Myopathy

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 HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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