Human Phenotype Ontology 
Grandparent Node:
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Muscle weakness (HP:0001324)help
Parent Node:
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Abnormality of the upper limb (HP:0002817)help
Parent Node:
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Distal muscle weakness (HP:0002460)help
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Distal upper limb muscle weakness (HP:0008959)help
Term ID: 8959
Name: Distal upper limb muscle weakness
Synonym:
Definition: Reduced strength of the distal musculature of the arms.
Comments:
Reference: HP:0008959
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandDistal lower limb muscle weakness (HP:0009053) help
..expandFirst dorsal interossei muscle weakness (HP:0003392) help
..expandLate-onset distal muscle weakness (HP:0003810) help
..expandParesis of extensor muscles of the big toe (HP:0002601) help
..expandProgressive distal muscle weakness (HP:0009063) 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:0008959HP:0008959Distal upper limb muscle weakness0ADSS1 CL E G H12262220093ORPHA:482601Adenylosuccinate synthetase-like 1-related distal myopathyHP:0040282 - Frequent
HP:0008959HP:0008959Distal upper limb muscle weakness0ATP1A2 CL E G H477800ORPHA:569Familial or sporadic hemiplegic migraineHP:0040283 - Occasional239
HP:0008959HP:0008959Distal upper limb muscle weakness0CACNA1A CL E G H7731388ORPHA:569Familial or sporadic hemiplegic migraineHP:0040283 - Occasional449
HP:0008959HP:0008959Distal upper limb muscle weakness0CADM3 CL E G H5786317601OMIM:619519CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2FF; CMT2FF1
HP:0008959HP:0008959Distal upper limb muscle weakness0DDHD2 CL E G H2325929106OMIM:615033Spastic paraplegia 54, autosomal recessive29
HP:0008959HP:0008959Distal upper limb muscle weakness0DYSF CL E G H82913097ORPHA:268Dysferlin-related limb-girdle muscular dystrophy R2HP:0040284 - Very rare600
HP:0008959HP:0008959Distal upper limb muscle weakness0FBLN5 CL E G H105163602OMIM:619764CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1H; CMT1H63
HP:0008959HP:0008959Distal upper limb muscle weakness0FLNC CL E G H23183756ORPHA:63273Distal myopathy with posterior leg and anterior hand involvementHP:0040283 - Occasional197
HP:0008959HP:0008959Distal upper limb muscle weakness0GDAP1 CL E G H5433215968ORPHA:101097Autosomal recessive Charcot-Marie-Tooth disease with hoarseness108
HP:0008959HP:0008959Distal upper limb muscle weakness0GIPC1 CL E G H107551226ORPHA:98897Oculopharyngodistal myopathyHP:0040283 - Occasional
HP:0008959HP:0008959Distal upper limb muscle weakness0GMPPB CL E G H2992522932ORPHA:363623GMPPB-related limb-girdle muscular dystrophy R19HP:0040283 - Occasional34
HP:0008959HP:0008959Distal upper limb muscle weakness0HARS1 CL E G H30354816ORPHA:488333Autosomal dominant Charcot-Marie-Tooth disease type 2WHP:0040281 - Very frequent
HP:0008959HP:0008959Distal upper limb muscle weakness0HK1 CL E G H30984922ORPHA:99953Charcot-Marie-Tooth disease type 4GHP:0040282 - Frequent11
HP:0008959HP:0008959Distal upper limb muscle weakness0HSPB3 CL E G H89885248OMIM:613376Neuronopathy, distal hereditary motor, type IIC.13
HP:0008959HP:0008959Distal upper limb muscle weakness0JAG2 CL E G H37146189OMIM:619566MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 27; LGMDR271
HP:0008959HP:0008959Distal upper limb muscle weakness0LMNA CL E G H40006636ORPHA:98856Charcot-Marie-Tooth disease type 2B1645
HP:0008959HP:0008959Distal upper limb muscle weakness0MLIP CL E G H9052321355OMIM:620138
HP:0008959HP:0008959Distal upper limb muscle weakness0MME CL E G H43117154ORPHA:497764Spinocerebellar ataxia type 43HP:0040281 - Very frequent18
HP:0008959HP:0008959Distal upper limb muscle weakness0MORC2 CL E G H2288023573ORPHA:466768Autosomal dominant Charcot-Marie-Tooth disease type 2ZHP:0040283 - Occasional8
HP:0008959HP:0008959Distal upper limb muscle weakness0NDRG1 CL E G H103977679ORPHA:99950Charcot-Marie-Tooth disease type 4DHP:0040283 - Occasional82
HP:0008959HP:0008959Distal upper limb muscle weakness0NEFL CL E G H47477739OMIM:607684Charcot-Marie-Tooth disease, axonal, type 2E118
HP:0008959HP:0008959Distal upper limb muscle weakness0NOTCH2NLC CL E G H10099671753924ORPHA:98897Oculopharyngodistal myopathyHP:0040283 - Occasional
HP:0008959HP:0008959Distal upper limb muscle weakness0PRRT2 CL E G H11247630500ORPHA:569Familial or sporadic hemiplegic migraineHP:0040283 - Occasional94
HP:0008959HP:0008959Distal upper limb muscle weakness0RYR1 CL E G H626110483ORPHA:178145Moderate multiminicore disease with hand involvementHP:0040282 - Frequent1200
HP:0008959HP:0008959Distal upper limb muscle weakness0SBF2 CL E G H818462135ORPHA:99956Charcot-Marie-Tooth disease type 4B2180
HP:0008959HP:0008959Distal upper limb muscle weakness0SCN1A CL E G H632310585ORPHA:569Familial or sporadic hemiplegic migraineHP:0040283 - Occasional1053
HP:0008959HP:0008959Distal upper limb muscle weakness0SMPX CL E G H2367611122OMIM:301075MYOPATHY, DISTAL, 7, ADULT-ONSET, X-LINKED; MPD712
HP:0008959HP:0008959Distal upper limb muscle weakness0SORD CL E G H665211184OMIM:618912SORBITOL DEHYDROGENASE DEFICIENCY WITH PERIPHERAL NEUROPATHY; SORDD
HP:0008959HP:0008959Distal upper limb muscle weakness0SPTLC2 CL E G H951711278OMIM:613640Neuropathy, hereditary sensory and autonomic, type IC149
HP:0008959HP:0008959Distal upper limb muscle weakness0SQSTM1 CL E G H887811280ORPHA:603Distal myopathy, Welander typeHP:0040281 - Very frequent62
HP:0008959HP:0008959Distal upper limb muscle weakness0TIA1 CL E G H707211802ORPHA:603Distal myopathy, Welander typeHP:0040281 - Very frequent5
HP:0008959HP:0008959Distal upper limb muscle weakness0TNR CL E G H714311953OMIM:619653NEURODEVELOPMENTAL DISORDER, NONPROGRESSIVE, WITH SPASTICITY AND TRANSIENT OPISTHOTONUS; NEDSTO7
HP:0008959HP:0008959Distal upper limb muscle weakness0TRPV4 CL E G H5934118083OMIM:606071Hereditary motor and sensory neuropathy, type IIC214
HP:0008959HP:0008959Distal upper limb muscle weakness0TTN CL E G H727312403ORPHA:609Tibial muscular dystrophyHP:0040284 - Very rare7128
HP:0008959HP:0008959Distal upper limb muscle weakness0VCP CL E G H741512666ORPHA:435387Autosomal dominant Charcot-Marie-Tooth disease type 2YHP:0040282 - Frequent63
HP:0008959HP:0008959Distal upper limb muscle weakness0VWA1 CL E G H6485630910OMIM:619216NEUROPATHY, HEREDITARY MOTOR, WITH MYOPATHIC FEATURES; HMNMYO


Genes (36) :ADSS1 ATP1A2 CACNA1A CADM3 DDHD2 DYSF FBLN5 FLNC GDAP1 GIPC1 GMPPB HARS1 HK1 HSPB3 JAG2 LMNA MLIP MME MORC2 NDRG1 NEFL NOTCH2NLC PRRT2 RYR1 SBF2 SCN1A SMPX SORD SPTLC2 SQSTM1 TIA1 TNR TRPV4 TTN VCP VWA1

Diseases (31) :ORPHA:482601 ORPHA:569 OMIM:619519 OMIM:615033 ORPHA:268 OMIM:619764 ORPHA:63273 ORPHA:101097 ORPHA:98897 ORPHA:363623 ORPHA:488333 ORPHA:99953 OMIM:613376 OMIM:619566 ORPHA:98856 OMIM:620138 ORPHA:497764 ORPHA:466768 ORPHA:99950 OMIM:607684 ORPHA:178145 ORPHA:99956 OMIM:301075 OMIM:618912 OMIM:613640 ORPHA:603 OMIM:619653 OMIM:606071 ORPHA:609 ORPHA:435387 OMIM:619216
 

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