Human Phenotype Ontology 
Grandparent Node:
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Muscle weakness (HP:0001324)help
Parent Node:
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Distal muscle weakness (HP:0002460)help
..Starting node
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Progressive distal muscle weakness (HP:0009063)help
Term ID: 9063
Name: Progressive distal muscle weakness
Synonym: Muscle weakness, distal, progressive; Muscle weakness, progressive, distal
Definition: Progressively reduced strength of the distal musculature.
Comments:
Reference: HP:0009063
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandDistal lower limb muscle weakness (HP:0009053) help
..expandDistal upper limb muscle weakness (HP:0008959) 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
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0009063HP:0009063Progressive distal muscle weakness0CAV3 CL E G H8591529ORPHA:488650Distal myopathy, Tateyama typeHP:0040282 - Frequent148
HP:0009063HP:0009063Progressive distal muscle weakness0CRYAB CL E G H14102389ORPHA:399058Alpha-B crystallin-related late-onset myopathyHP:0040281 - Very frequent46
HP:0009063HP:0009063Progressive distal muscle weakness0GIPC1 CL E G H107551226ORPHA:98897Oculopharyngodistal myopathyHP:0040282 - Frequent
HP:0009063HP:0009063Progressive distal muscle weakness0HADHA CL E G H30304801ORPHA:746Mitochondrial trifunctional protein deficiencyHP:0040282 - Frequent99
HP:0009063HP:0009063Progressive distal muscle weakness0HADHB CL E G H30324803ORPHA:746Mitochondrial trifunctional protein deficiencyHP:0040282 - Frequent60
HP:0009063HP:0009063Progressive distal muscle weakness0KLHL9 CL E G H5595818732ORPHA:399081KLHL9-related early-onset distal myopathyHP:0040281 - Very frequent3
HP:0009063HP:0009063Progressive distal muscle weakness0LDB3 CL E G H1115515710OMIM:609452Myopathy, myofibrillar, 4.286
HP:0009063HP:0009063Progressive distal muscle weakness0MYH14 CL E G H7978423212ORPHA:397744Peripheral neuropathy-myopathy-hoarseness-hearing loss syndromeHP:0040282 - Frequent227
HP:0009063HP:0009063Progressive distal muscle weakness0MYOT CL E G H949912399ORPHA:98911Distal myotilinopathyHP:0040281 - Very frequent75
HP:0009063HP:0009063Progressive distal muscle weakness0MYOT CL E G H949912399OMIM:609200MYOTILINOPATHY.75
HP:0009063HP:0009063Progressive distal muscle weakness0NEB CL E G H47037720ORPHA:399103Distal nebulin myopathyHP:0040282 - Frequent745
HP:0009063HP:0009063Progressive distal muscle weakness0NOTCH2NLC CL E G H10099671753924ORPHA:98897Oculopharyngodistal myopathyHP:0040282 - Frequent
HP:0009063HP:0009063Progressive distal muscle weakness0PNPLA2 CL E G H5710430802ORPHA:98908Neutral lipid storage myopathyHP:0040283 - Occasional65
HP:0009063HP:0009063Progressive distal muscle weakness0TRPV4 CL E G H5934118083OMIM:181405Scapuloperoneal spinal muscular atrophy.214


Genes (13) :CAV3 CRYAB GIPC1 HADHA HADHB KLHL9 LDB3 MYH14 MYOT NEB NOTCH2NLC PNPLA2 TRPV4

Diseases (12) :ORPHA:488650 ORPHA:399058 ORPHA:98897 ORPHA:746 ORPHA:399081 OMIM:609452 ORPHA:397744 ORPHA:98911 OMIM:609200 ORPHA:399103 ORPHA:98908 OMIM:181405
 

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