MSeqDR Mitochondrial Disease Portal


 
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Disease Browser
Parent Node:
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Muscular Dystrophies (D009136)
..Starting node
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Muscular Dystrophy, Oculopharyngeal (D039141)

       Child Nodes:
........expandVisceral myopathy familial external ophthalmoplegia (C536350)



 Sister Nodes: 
..expandAlpha-B Crystallinopathy with Cataract (C563849)
..expandAmino Aciduria with Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, and Acidosis (C565960)
..expandBassoe syndrome (C537661)
..expandBethlem myopathy (C535436)
..expandDistal Myopathies (D049310) Child11
..expandFilaminopathy, autosomal dominant (C537932)
..expandGlycogen Storage Disease Type VII (D006014)
..expandMuscular Dystrophies, Limb-Girdle (D049288) Child33
..expandMuscular dystrophy congenital, merosin negative (C537384)
..expandMuscular Dystrophy, Adult-Onset, with Leukoencephalopathy (C565361)
..expandMuscular Dystrophy, Barnes Type (C563558)
..expandMuscular Dystrophy, Cardiac Type (C563247)
..expandMuscular Dystrophy, Congenital, 1B (C565748)
..expandMuscular Dystrophy, Congenital, 1C (C564691)
..expandMuscular Dystrophy, Congenital, associated with Calf Hypertrophy, Microcephaly, and Severe Mental Retardation (C565506)
..expandMuscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency (C567709)
..expandMuscular Dystrophy, Congenital, due to Partial LAMA2 Deficiency (C564317)
..expandMuscular dystrophy, congenital, infantile with cataract and hypogonadism (C537385)
..expandMuscular Dystrophy, Congenital, Lmna-Related (C567708)
..expandMuscular Dystrophy, Congenital, Megaconial Type (C566527)  LSDB  L: 00415;
..expandMuscular Dystrophy, Congenital, Merosin-Positive (C563716)
..expandMuscular Dystrophy, Congenital, plus Mental Retardation (C565505)
..expandMuscular Dystrophy, Congenital, Producing Arthrogryposis (C564985)
..expandMuscular Dystrophy, Congenital, Type 1D (C563844)
..expandMuscular Dystrophy, Congenital, With Cerebellar Atrophy (C566392)
..expandMuscular Dystrophy, Congenital, with Rapid Progression (C564983)
..expandMuscular Dystrophy, Congenital, with Severe Central Nervous System Atrophy and Absence of Large Myelinated Fibers (C563378)
..expandMuscular Dystrophy, Duchenne (D020388) Child1
..expandMuscular Dystrophy, Emery-Dreifuss (D020389) Child10
..expandMuscular Dystrophy, Facioscapulohumeral (D020391) Child4
..expandMuscular Dystrophy, Mabry Type (C564096)
..expandMuscular Dystrophy, Oculopharyngeal (D039141) Child1
..expandMuscular Dystrophy, Progressive Pectorodorsal (C564095)
..expandMuscular Dystrophy, Pseudohypertrophic, With Internalized Capillaries (C563554)
..expandMUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1 (OMIM:613155)
..expandMUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 2 (OMIM:613156)
..expandMUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 3 (OMIM:613151)
..expandMUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 6 (OMIM:608840)
..expandMUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH OR WITHOUT MENTAL RETARDATION), TYPE B, 5 (OMIM:606612)
..expandMUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITHOUT MENTAL RETARDATION), TYPE B, 4 (OMIM:613152)
..expandMyopathy with Abnormal Lipid Metabolism (C562935)
..expandMyopathy, Myofibrillar, Desmin-Related (C563319)
..expandMyopathy, Myofibrillar, Zasp-Related (C563718)
..expandMYOPATHY, SCAPULOHUMEROPERONEAL (OMIM:616852)
..expandMyotonic Dystrophy (D009223) Child1
..expandOculopharyngodistal Myopathy (C563508)
..expandRigid spine syndrome (C535683)
..expandScleroatonic muscular dystrophy (C537521)
..expandVacuolar Neuromyopathy (C566617)
..expandWalker-Warburg Syndrome (D058494) Child7
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM,ClinVar, CTD
Term ID:8362
Name:Muscular Dystrophy, Oculopharyngeal
Definition:An autosomal dominant hereditary disease that presents in late in life and is characterized by DYSPHAGIA and progressive ptosis of the eyelids. Mutations in the gene for POLY(A)-BINDING PROTEIN II have been associated with oculopharyngeal muscular dystrophy.
Alternative IDs:DO:DOID:11719|OMIM:164300
ParentIDs:MESH:D009136
TreeNumbers:C05.651.534.500.450 |C10.668.491.175.500.450 |C16.320.577.450
Synonyms:Dystrophies, Oculopharyngeal Muscular |Dystrophy, Oculopharyngeal Muscular |Muscular Dystrophies, Oculopharyngeal |MUSCULAR DYSTROPHY, OCULOPHARYNGEAL |Oculopharyngeal Dystrophy |Oculopharyngeal Muscular Dystrophies |Oculopharyngeal Muscular Dystrophy |OPMD |Pro
Slim Mappings:Genetic disease (inborn)|Musculoskeletal disease|Nervous system disease
Reference: MedGen: D039141
MeSH: D039141
OMIM: 164300;
MSeqDR LSDB:  
Genes: PABPN1;
Phenotypes
1 HP:0000006Autosomal dominant inheritance
2 HP:0003581Adult onset
3 HP:0002460Distal muscle weakness
NAMDC:  Muscle weakness: distal
4 HP:0001260Dysarthria
NAMDC:  Dysarthria
5 HP:0002015Dysphagia
NAMDC:  Dysphagia
6 HP:0010628Facial palsy
7 HP:0001288Gait disturbance Late onset
8 HP:0003690Limb muscle weakness
9 HP:0000298Mask-like facies
10 HP:0000467Neck muscle weakness
11 HP:0003676Progressive
12 HP:0007838Progressive ptosis
13 HP:0003701Proximal muscle weakness
NAMDC:  Muscle weakness: proximal
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NM_004643.3(PABPN1):c.3GGC[10] (p.Ala9_Ala11dup)8106PABPN1Pathogenic/Likely pathogenicrs193922941RCV000360117|RCV000851331; NMedGen:CN517202|MONDO:MONDO:0008116,MedGen:C0270952,OMIM:164300, Orphanet:270142379068023790681TTGGCGGCGGC14:g.23790680_23790681insGGCGGCGGCClinGen:CA10603299
NM_004643.4(PABPN1):c.3GGC[9] (p.Ala10_Ala11dup)8106PABPN1Pathogenicrs193922941RCV000288768|RCV001782771; NMedGen:CN517202|MONDO:MONDO:0008116,MedGen:C0270952,OMIM:164300, Orphanet:270142379068023790681TTGGCGGC14:g.23790680_23790681insGGCGGCClinGen:CA10603306CN517202 not provided;
NM_004643.4(PABPN1):c.3_23= (p.Met1_Ala8=)8106PABPN1Pathogenicrs193922941RCV000007792; NMONDO:MONDO:0008116,MedGen:C0270952,OMIM:164300, Orphanet:270142379068123790701GGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC14:g.23790682_23790701delOMIM:602279.0002
NM_004643.3(PABPN1):c.3GGC[11] (p.Ala11_Gly12insAlaAlaAlaAla)8106PABPN1Pathogenicrs193922941RCV000599541|RCV000989180; NMedGen:CN517202|MONDO:MONDO:0008116,MedGen:C0270952,OMIM:164300, Orphanet:270142379069023790701TTGGCGGCGGCGGC14:g.23790680_23790681insGGCGGCGGCGGCClinGen:CA658798194CN517202 not provided;
NM_004643.4(PABPN1):c.15_26dup (p.Ala8_Ala11dup)8106PABPN1Pathogenicrs1594987281RCV000989181; NMONDO:MONDO:0008116,MedGen:C0270952,OMIM:164300, Orphanet:270142379069023790691GGGCGGCGGCGGCA14:g.23790690_23790691insGCGGCGGCGGCA-
NM_004643.4(PABPN1):c.18_26dup (p.Ala9_Ala11dup)8106PABPN1Likely pathogenicrs1888252890RCV001268333|RCV001780224; NMedGen:CN517202|MONDO:MONDO:0008116,MedGen:C0270952,OMIM:164300, Orphanet:270142379069323790694GGGCGGCGGCA14:g.23790693_23790694insGCGGCGGCA-
NM_004643.4(PABPN1):c.35G>C (p.Gly12Ala)8106PABPN1Pathogenicrs104894466RCV000007793; NMONDO:MONDO:0008116,MedGen:C0270952,OMIM:164300, Orphanet:270142379071323790713GC14:g.23790713G>CClinGen:CA254158,OMIM:602279.0003C0270952 164300 Oculopharyngeal muscular dystrophy;
MSeqDR Portal