Human Phenotype Ontology 
Grandparent Node:
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Abnormal muscle physiology (HP:0011804)help
Parent Node:
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Muscle weakness (HP:0001324)help
..Starting node
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Progressive muscle weakness (HP:0003323)help
Term ID: 3323
Name: Progressive muscle weakness
Synonym: Muscle weakness, progressive; Progressive muscular weakness
Definition:
Comments:
Reference: HP:0003323
Genes and Diseases:
 
       Child Nodes:
........expandProgressive proximal muscle weakness (HP:0009073) help

 Sister Nodes: 
..expandAbdominal wall muscle weakness (HP:0009023) help
..expandAnkle weakness (HP:0031374) help
..expandAxial muscle weakness (HP:0003327) help
..expandBulbar palsy (HP:0001283) help
..expandCold paresis (HP:0031372) help
..expandDiaphragmatic weakness (HP:0009113) help
..expandDistal muscle weakness (HP:0002460) help
..expandFacial palsy (HP:0010628) help
..expandFatigable weakness (HP:0003473) help
..expandGeneralized muscle weakness (HP:0003324) help
..expandIntercostal muscle weakness (HP:0004878) help
..expandLimb muscle weakness (HP:0003690) help
..expandLimb-girdle muscle weakness (HP:0003325) help
..expandMuscle flaccidity (HP:0010547) help
..expandNeck muscle weakness (HP:0000467) help
..expandPoor head control (HP:0002421) help
..expandProximal muscle weakness (HP:0003701) help
..expandScapuloperoneal weakness (HP:0003704) help
..expandWeakness of muscles of respiration (HP:0004347) help
..expandWeakness of orbicularis oculi muscle (HP:0012507) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0003323HP:0003323Progressive muscle weakness0ABHD5 CL E G H5109921396ORPHA:98907Neutral lipid storage disease with ichthyosis90
HP:0003323HP:0003323Progressive muscle weakness0ACTA1 CL E G H58129ORPHA:2020Congenital fiber-type disproportion myopathyHP:0040281 - Very frequent96
HP:0003323HP:0003323Progressive muscle weakness0ACTA1 CL E G H58129OMIM:616852Myopathy, scapulohumeroperoneal96
HP:0003323HP:0003323Progressive muscle weakness0ANO5 CL E G H20385927337ORPHA:399096Distal anoctaminopathyHP:0040281 - Very frequent304
HP:0003323HP:0003323Progressive muscle weakness0BIN1 CL E G H2741052ORPHA:169186Autosomal recessive centronuclear myopathyHP:0040282 - Frequent99
HP:0003323HP:0003323Progressive muscle weakness0COL12A1 CL E G H13032188ORPHA:610Bethlem myopathy65
HP:0003323HP:0003323Progressive muscle weakness0COL6A1 CL E G H12912211ORPHA:610Bethlem myopathy442
HP:0003323HP:0003323Progressive muscle weakness0COL6A2 CL E G H12922212ORPHA:610Bethlem myopathy478
HP:0003323HP:0003323Progressive muscle weakness0COL6A3 CL E G H12932213ORPHA:610Bethlem myopathy702
HP:0003323HP:0003323Progressive muscle weakness0COQ2 CL E G H2723525223OMIM:607426Coenzyme Q10 deficiency, primary, 1.54
HP:0003323HP:0003323Progressive muscle weakness0CRYAB CL E G H14102389ORPHA:399058Alpha-B crystallin-related late-onset myopathy46
HP:0003323HP:0003323Progressive muscle weakness0DES CL E G H16742770ORPHA:98909DesminopathyHP:0040281 - Very frequent263
HP:0003323HP:0003323Progressive muscle weakness0DMD CL E G H17562928ORPHA:98896Duchenne muscular dystrophyHP:0040281 - Very frequent1496
HP:0003323HP:0003323Progressive muscle weakness0DOLK CL E G H2284523406ORPHA:91131DK1-CDG55
HP:0003323HP:0003323Progressive muscle weakness0DYSF CL E G H82913097ORPHA:178400Distal myopathy with anterior tibial onset600
HP:0003323HP:0003323Progressive muscle weakness0GGPS1 CL E G H94534249OMIM:619518MUSCULAR DYSTROPHY, CONGENITAL HEARING LOSS, AND OVARIAN INSUFFICIENCY SYNDROME; MDHLO
HP:0003323HP:0003323Progressive muscle weakness0GIPC1 CL E G H107551226ORPHA:98897Oculopharyngodistal myopathy
HP:0003323HP:0003323Progressive muscle weakness0HACD1 CL E G H92009639ORPHA:2020Congenital fiber-type disproportion myopathyHP:0040281 - Very frequent2
HP:0003323HP:0003323Progressive muscle weakness0ITGA7 CL E G H36796143ORPHA:2020Congenital fiber-type disproportion myopathyHP:0040281 - Very frequent127
HP:0003323HP:0003323Progressive muscle weakness0LDB3 CL E G H1115515710ORPHA:98912Late-onset distal myopathy, Markesbery-Griggs type286
HP:0003323HP:0003323Progressive muscle weakness0LDB3 CL E G H1115515710OMIM:609452Myopathy, myofibrillar, 4.286
HP:0003323HP:0003323Progressive muscle weakness0LTBP4 CL E G H84256717ORPHA:98896Duchenne muscular dystrophyHP:0040281 - Very frequent92
HP:0003323HP:0003323Progressive muscle weakness0MAP3K20 CL E G H5177617797ORPHA:2020Congenital fiber-type disproportion myopathyHP:0040281 - Very frequent2
HP:0003323HP:0003323Progressive muscle weakness0MIEF2 CL E G H12517017920OMIM:619024COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 49; COXPD49
HP:0003323HP:0003323Progressive muscle weakness0MLIP CL E G H9052321355OMIM:620138
HP:0003323HP:0003323Progressive muscle weakness0MPV17 CL E G H43587224OMIM:256810Navajo neurohepatopathy56
HP:0003323HP:0003323Progressive muscle weakness0MYH7 CL E G H46257577ORPHA:59135Laing early-onset distal myopathyHP:0040282 - Frequent1269
HP:0003323HP:0003323Progressive muscle weakness0MYL2 CL E G H46337583ORPHA:2020Congenital fiber-type disproportion myopathyHP:0040281 - Very frequent131
HP:0003323HP:0003323Progressive muscle weakness0MYOT CL E G H949912399ORPHA:98911Distal myotilinopathy75
HP:0003323HP:0003323Progressive muscle weakness0NEB CL E G H47037720ORPHA:399103Distal nebulin myopathy745
HP:0003323HP:0003323Progressive muscle weakness0NOTCH2NLC CL E G H10099671753924ORPHA:98897Oculopharyngodistal myopathy
HP:0003323HP:0003323Progressive muscle weakness0PCNA CL E G H51118729OMIM:615919Ataxia-Telangiectasia-Like disorder 2.1
HP:0003323HP:0003323Progressive muscle weakness0PEX1 CL E G H51898850ORPHA:772Infantile Refsum diseaseHP:0040281 - Very frequent169
HP:0003323HP:0003323Progressive muscle weakness0PEX10 CL E G H51928851ORPHA:772Infantile Refsum diseaseHP:0040281 - Very frequent75
HP:0003323HP:0003323Progressive muscle weakness0PEX11B CL E G H87998853ORPHA:772Infantile Refsum diseaseHP:0040281 - Very frequent4
HP:0003323HP:0003323Progressive muscle weakness0PEX12 CL E G H51938854ORPHA:772Infantile Refsum diseaseHP:0040281 - Very frequent65
HP:0003323HP:0003323Progressive muscle weakness0PEX13 CL E G H51948855ORPHA:772Infantile Refsum diseaseHP:0040281 - Very frequent66
HP:0003323HP:0003323Progressive muscle weakness0PEX13 CL E G H51948855OMIM:614885Peroxisome biogenesis disorder 11B.66
HP:0003323HP:0003323Progressive muscle weakness0PEX14 CL E G H51958856ORPHA:772Infantile Refsum diseaseHP:0040281 - Very frequent46
HP:0003323HP:0003323Progressive muscle weakness0PEX16 CL E G H94098857ORPHA:772Infantile Refsum diseaseHP:0040281 - Very frequent59
HP:0003323HP:0003323Progressive muscle weakness0PEX19 CL E G H58249713ORPHA:772Infantile Refsum diseaseHP:0040281 - Very frequent62
HP:0003323HP:0003323Progressive muscle weakness0PEX2 CL E G H58289717ORPHA:772Infantile Refsum diseaseHP:0040281 - Very frequent82
HP:0003323HP:0003323Progressive muscle weakness0PEX26 CL E G H5567022965ORPHA:772Infantile Refsum diseaseHP:0040281 - Very frequent106
HP:0003323HP:0003323Progressive muscle weakness0PEX3 CL E G H85048858ORPHA:772Infantile Refsum diseaseHP:0040281 - Very frequent47
HP:0003323HP:0003323Progressive muscle weakness0PEX5 CL E G H58309719ORPHA:772Infantile Refsum diseaseHP:0040281 - Very frequent99
HP:0003323HP:0003323Progressive muscle weakness0PEX6 CL E G H51908859ORPHA:772Infantile Refsum diseaseHP:0040281 - Very frequent98
HP:0003323HP:0003323Progressive muscle weakness0PHKA2 CL E G H52568926ORPHA:264580Glycogen storage disease due to liver phosphorylase kinase deficiencyHP:0040283 - Occasional54
HP:0003323HP:0003323Progressive muscle weakness0PHKB CL E G H52578927ORPHA:79240Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency101
HP:0003323HP:0003323Progressive muscle weakness0PHKG2 CL E G H52618931ORPHA:264580Glycogen storage disease due to liver phosphorylase kinase deficiencyHP:0040283 - Occasional48
HP:0003323HP:0003323Progressive muscle weakness0PLEC CL E G H53399069ORPHA:254361Plectin-related limb-girdle muscular dystrophy R17759
HP:0003323HP:0003323Progressive muscle weakness0PNPLA2 CL E G H5710430802ORPHA:98908Neutral lipid storage myopathy65
HP:0003323HP:0003323Progressive muscle weakness0POLG CL E G H54289179OMIM:157640Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1.464
HP:0003323HP:0003323Progressive muscle weakness0POLG2 CL E G H112329180OMIM:610131Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4.45
HP:0003323HP:0003323Progressive muscle weakness0PRPS1 CL E G H56319462OMIM:301835Arts syndrome.49
HP:0003323HP:0003323Progressive muscle weakness0PUS1 CL E G H8032415508OMIM:600462Myopathy, lactic acidosis, and sideroblastic anemia 1.57
HP:0003323HP:0003323Progressive muscle weakness0PYGM CL E G H58379726ORPHA:368Glycogen storage disease due to muscle glycogen phosphorylase deficiency166
HP:0003323HP:0003323Progressive muscle weakness0RYR1 CL E G H626110483ORPHA:169186Autosomal recessive centronuclear myopathyHP:0040282 - Frequent1200
HP:0003323HP:0003323Progressive muscle weakness0SELENON CL E G H5719015999ORPHA:2020Congenital fiber-type disproportion myopathyHP:0040281 - Very frequent144
HP:0003323HP:0003323Progressive muscle weakness0SIL1 CL E G H6437424624OMIM:248800Marinesco-Sjogren syndrome.67
HP:0003323HP:0003323Progressive muscle weakness0SPEG CL E G H1029016901ORPHA:169186Autosomal recessive centronuclear myopathyHP:0040282 - Frequent20
HP:0003323HP:0003323Progressive muscle weakness0TBCK CL E G H9362728261ORPHA:488632TBCK-related intellectual disability syndromeHP:0040281 - Very frequent13
HP:0003323HP:0003323Progressive muscle weakness0TK2 CL E G H708411831ORPHA:254875Mitochondrial DNA depletion syndrome, myopathic form103
HP:0003323HP:0003323Progressive muscle weakness0TNNT1 CL E G H713811948ORPHA:98902Amish nemaline myopathyHP:0040282 - Frequent37
HP:0003323HP:0003323Progressive muscle weakness0TNNT1 CL E G H713811948OMIM:605355NEMALINE MYOPATHY 5; NEM537
HP:0003323HP:0003323Progressive muscle weakness0TPI1 CL E G H716712009OMIM:615512Triosephosphate isomerase deficiency.28
HP:0003323HP:0003323Progressive muscle weakness0TPM2 CL E G H716912011ORPHA:2020Congenital fiber-type disproportion myopathyHP:0040281 - Very frequent54
HP:0003323HP:0003323Progressive muscle weakness0TPM3 CL E G H717012012ORPHA:2020Congenital fiber-type disproportion myopathyHP:0040281 - Very frequent108
HP:0003323HP:0003323Progressive muscle weakness0TRAPPC11 CL E G H6068425751ORPHA:369847Intellectual disability-hyperkinetic movement-truncal ataxia syndrome27
HP:0003323HP:0003323Progressive muscle weakness0TRNE CL E G H45567479ORPHA:2596Myopathy and diabetes mellitus
HP:0003323HP:0003323Progressive muscle weakness0TRNL1 CL E G H45677490ORPHA:663Mitochondrial DNA-related progressive external ophthalmoplegia
HP:0003323HP:0003323Progressive muscle weakness0TRNL2 CL E G H45687491ORPHA:663Mitochondrial DNA-related progressive external ophthalmoplegia
HP:0003323HP:0003323Progressive muscle weakness0TRNN CL E G H45707493ORPHA:663Mitochondrial DNA-related progressive external ophthalmoplegia
HP:0003323HP:0003323Progressive muscle weakness0TRNS1 CL E G H45747497ORPHA:663Mitochondrial DNA-related progressive external ophthalmoplegia
HP:0003323HP:0003323Progressive muscle weakness0TTN CL E G H727312403ORPHA:169186Autosomal recessive centronuclear myopathyHP:0040282 - Frequent7128
HP:0003323HP:0003323Progressive muscle weakness0TWNK CL E G H566521160OMIM:609286Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3.113
HP:0003323HP:0003323Progressive muscle weakness0VAPB CL E G H921712649OMIM:608627Amyotrophic lateral sclerosis 8116
HP:0003323HP:0003323Progressive muscle weakness0VCP CL E G H741512666OMIM:167320Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 163
HP:0003323HP:0003323Progressive muscle weakness0YARS2 CL E G H5106724249OMIM:613561Myopathy, lactic acidosis, and sideroblastic anemia 2.45
HP:0003323HP:0009073Progressive proximal muscle weakness1ABHD5 CL E G H5109921396ORPHA:98907Neutral lipid storage disease with ichthyosisHP:0040281 - Very frequent90
HP:0003323HP:0009073Progressive proximal muscle weakness1ANO5 CL E G H20385927337ORPHA:399096Distal anoctaminopathyHP:0040283 - Occasional304
HP:0003323HP:0009073Progressive proximal muscle weakness1COL12A1 CL E G H13032188ORPHA:610Bethlem myopathyHP:0040281 - Very frequent65
HP:0003323HP:0009073Progressive proximal muscle weakness1COL6A1 CL E G H12912211ORPHA:610Bethlem myopathyHP:0040281 - Very frequent442
HP:0003323HP:0009073Progressive proximal muscle weakness1COL6A2 CL E G H12922212ORPHA:610Bethlem myopathyHP:0040281 - Very frequent478
HP:0003323HP:0009073Progressive proximal muscle weakness1COL6A3 CL E G H12932213ORPHA:610Bethlem myopathyHP:0040281 - Very frequent702
HP:0003323HP:0009073Progressive proximal muscle weakness1CRYAB CL E G H14102389ORPHA:399058Alpha-B crystallin-related late-onset myopathyHP:0040283 - Occasional46
HP:0003323HP:0009073Progressive proximal muscle weakness1DYSF CL E G H82913097ORPHA:178400Distal myopathy with anterior tibial onsetHP:0040282 - Frequent600
HP:0003323HP:0009073Progressive proximal muscle weakness1GIPC1 CL E G H107551226ORPHA:98897Oculopharyngodistal myopathyHP:0040283 - Occasional
HP:0003323HP:0009073Progressive proximal muscle weakness1LDB3 CL E G H1115515710ORPHA:98912Late-onset distal myopathy, Markesbery-Griggs typeHP:0040282 - Frequent286
HP:0003323HP:0009073Progressive proximal muscle weakness1LDB3 CL E G H1115515710OMIM:609452Myopathy, myofibrillar, 4.286
HP:0003323HP:0009073Progressive proximal muscle weakness1MLIP CL E G H9052321355OMIM:620138
HP:0003323HP:0009073Progressive proximal muscle weakness1MYOT CL E G H949912399ORPHA:98911Distal myotilinopathyHP:0040283 - Occasional75
HP:0003323HP:0009073Progressive proximal muscle weakness1NEB CL E G H47037720ORPHA:399103Distal nebulin myopathyHP:0040283 - Occasional745
HP:0003323HP:0009073Progressive proximal muscle weakness1NOTCH2NLC CL E G H10099671753924ORPHA:98897Oculopharyngodistal myopathyHP:0040283 - Occasional
HP:0003323HP:0009073Progressive proximal muscle weakness1PLEC CL E G H53399069ORPHA:254361Plectin-related limb-girdle muscular dystrophy R17HP:0040281 - Very frequent759
HP:0003323HP:0009073Progressive proximal muscle weakness1PNPLA2 CL E G H5710430802ORPHA:98908Neutral lipid storage myopathyHP:0040281 - Very frequent65
HP:0003323HP:0009073Progressive proximal muscle weakness1PYGM CL E G H58379726ORPHA:368Glycogen storage disease due to muscle glycogen phosphorylase deficiencyHP:0040283 - Occasional166
HP:0003323HP:0009073Progressive proximal muscle weakness1TK2 CL E G H708411831ORPHA:254875Mitochondrial DNA depletion syndrome, myopathic formHP:0040282 - Frequent103
HP:0003323HP:0009073Progressive proximal muscle weakness1TRAPPC11 CL E G H6068425751ORPHA:369847Intellectual disability-hyperkinetic movement-truncal ataxia syndromeHP:0040282 - Frequent27
HP:0003323HP:0009073Progressive proximal muscle weakness1TRNE CL E G H45567479ORPHA:2596Myopathy and diabetes mellitusHP:0040282 - Frequent
HP:0003323HP:0009073Progressive proximal muscle weakness1TRNL1 CL E G H45677490ORPHA:663Mitochondrial DNA-related progressive external ophthalmoplegiaHP:0040282 - Frequent
HP:0003323HP:0009073Progressive proximal muscle weakness1TRNL2 CL E G H45687491ORPHA:663Mitochondrial DNA-related progressive external ophthalmoplegiaHP:0040282 - Frequent
HP:0003323HP:0009073Progressive proximal muscle weakness1TRNN CL E G H45707493ORPHA:663Mitochondrial DNA-related progressive external ophthalmoplegiaHP:0040282 - Frequent
HP:0003323HP:0009073Progressive proximal muscle weakness1TRNS1 CL E G H45747497ORPHA:663Mitochondrial DNA-related progressive external ophthalmoplegiaHP:0040282 - Frequent
HP:0003323HP:0009073Progressive proximal muscle weakness1VCP CL E G H741512666OMIM:167320Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 163


Genes (74) :ABHD5 ACTA1 ANO5 BIN1 COL12A1 COL6A1 COL6A2 COL6A3 COQ2 CRYAB DES DMD DOLK DYSF GGPS1 GIPC1 HACD1 ITGA7 LDB3 LTBP4 MAP3K20 MIEF2 MLIP MPV17 MYH7 MYL2 MYOT NEB NOTCH2NLC PCNA PEX1 PEX10 PEX11B PEX12 PEX13 PEX14 PEX16 PEX19 PEX2 PEX26 PEX3 PEX5 PEX6 PHKA2 PHKB PHKG2 PLEC PNPLA2 POLG POLG2 PRPS1 PUS1 PYGM RYR1 SELENON SIL1 SPEG TBCK TK2 TNNT1 TPI1 TPM2 TPM3 TRAPPC11 TRNE TRNL1 TRNL2 TRNN TRNS1 TTN TWNK VAPB VCP YARS2

Diseases (47) :ORPHA:98907 ORPHA:2020 OMIM:616852 ORPHA:399096 ORPHA:169186 ORPHA:610 OMIM:607426 ORPHA:399058 ORPHA:98909 ORPHA:98896 ORPHA:91131 ORPHA:178400 OMIM:619518 ORPHA:98897 ORPHA:98912 OMIM:609452 OMIM:619024 OMIM:620138 OMIM:256810 ORPHA:59135 ORPHA:98911 ORPHA:399103 OMIM:615919 ORPHA:772 OMIM:614885 ORPHA:264580 ORPHA:79240 ORPHA:254361 ORPHA:98908 OMIM:157640 OMIM:610131 OMIM:301835 OMIM:600462 ORPHA:368 OMIM:248800 ORPHA:488632 ORPHA:254875 ORPHA:98902 OMIM:605355 OMIM:615512 ORPHA:369847 ORPHA:2596 ORPHA:663 OMIM:609286 OMIM:608627 OMIM:167320 OMIM:613561
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.