Human Phenotype Ontology 
Grandparent Node:
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Abnormality of the hand (HP:0001155)help
Grandparent Node:
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Abnormality of the musculature of the upper limbs (HP:0001446)help
Parent Node:
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Abnormality of the musculature of the hand (HP:0001421)help
..Starting node
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Weakness of the intrinsic hand muscles (HP:0009005)help
Term ID: 9005
Name: Weakness of the intrinsic hand muscles
Synonym: Intrinsic hand muscle weakness
Definition:
Comments:
Reference: HP:0009005
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandAbnormality of the hypothenar eminence (HP:0010486) help
..expandAbnormality of the thenar eminence (HP:0001227) help
..expandHand muscle atrophy (HP:0009130) help
..expandHand muscle weakness (HP:0030237) help
..expandHypotrophy of the small hand muscles (HP:0006006) 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:0009005HP:0009005Weakness of the intrinsic hand muscles0AGRN CL E G H375790329ORPHA:98913Postsynaptic congenital myasthenic syndromesHP:0040282 - Frequent127
HP:0009005HP:0009005Weakness of the intrinsic hand muscles0AK9 CL E G H22126433814ORPHA:98913Postsynaptic congenital myasthenic syndromesHP:0040282 - Frequent1
HP:0009005HP:0009005Weakness of the intrinsic hand muscles0CADM3 CL E G H5786317601OMIM:619519CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2FF; CMT2FF1
HP:0009005HP:0009005Weakness of the intrinsic hand muscles0CAV3 CL E G H8591529ORPHA:488650Distal myopathy, Tateyama typeHP:0040282 - Frequent148
HP:0009005HP:0009005Weakness of the intrinsic hand muscles0CHRNA1 CL E G H11341955ORPHA:98913Postsynaptic congenital myasthenic syndromesHP:0040282 - Frequent74
HP:0009005HP:0009005Weakness of the intrinsic hand muscles0CHRNB1 CL E G H11401961ORPHA:98913Postsynaptic congenital myasthenic syndromesHP:0040282 - Frequent53
HP:0009005HP:0009005Weakness of the intrinsic hand muscles0CHRND CL E G H11441965ORPHA:98913Postsynaptic congenital myasthenic syndromesHP:0040282 - Frequent88
HP:0009005HP:0009005Weakness of the intrinsic hand muscles0CHRNE CL E G H11451966ORPHA:98913Postsynaptic congenital myasthenic syndromesHP:0040282 - Frequent139
HP:0009005HP:0009005Weakness of the intrinsic hand muscles0COL13A1 CL E G H13052190ORPHA:98913Postsynaptic congenital myasthenic syndromesHP:0040282 - Frequent6
HP:0009005HP:0009005Weakness of the intrinsic hand muscles0DOK7 CL E G H28548926594ORPHA:98913Postsynaptic congenital myasthenic syndromesHP:0040282 - Frequent91
HP:0009005HP:0009005Weakness of the intrinsic hand muscles0DYSF CL E G H82913097ORPHA:178400Distal myopathy with anterior tibial onsetHP:0040283 - Occasional600
HP:0009005HP:0009005Weakness of the intrinsic hand muscles0FBXO38 CL E G H8154528844OMIM:615575Neuronopathy, distal hereditary motor, type IID.1
HP:0009005HP:0009005Weakness of the intrinsic hand muscles0HINT1 CL E G H30944912ORPHA:324442Autosomal recessive axonal neuropathy with neuromyotoniaHP:0040283 - Occasional12
HP:0009005HP:0009005Weakness of the intrinsic hand muscles0KLHL9 CL E G H5595818732ORPHA:399081KLHL9-related early-onset distal myopathyHP:0040281 - Very frequent3
HP:0009005HP:0009005Weakness of the intrinsic hand muscles0LDB3 CL E G H1115515710ORPHA:98912Late-onset distal myopathy, Markesbery-Griggs typeHP:0040283 - Occasional286
HP:0009005HP:0009005Weakness of the intrinsic hand muscles0LRP4 CL E G H40386696ORPHA:98913Postsynaptic congenital myasthenic syndromesHP:0040282 - Frequent124
HP:0009005HP:0009005Weakness of the intrinsic hand muscles0MUSK CL E G H45937525ORPHA:98913Postsynaptic congenital myasthenic syndromesHP:0040282 - Frequent72
HP:0009005HP:0009005Weakness of the intrinsic hand muscles0NEB CL E G H47037720ORPHA:399103Distal nebulin myopathyHP:0040282 - Frequent745
HP:0009005HP:0009005Weakness of the intrinsic hand muscles0RAPSN CL E G H59139863ORPHA:98913Postsynaptic congenital myasthenic syndromesHP:0040282 - Frequent73
HP:0009005HP:0009005Weakness of the intrinsic hand muscles0SCN4A CL E G H632910591ORPHA:98913Postsynaptic congenital myasthenic syndromesHP:0040282 - Frequent263
HP:0009005HP:0009005Weakness of the intrinsic hand muscles0STIM1 CL E G H678611386OMIM:160565Myopathy, tubular aggregate, 1.31
HP:0009005HP:0009005Weakness of the intrinsic hand muscles0VCP CL E G H741512666ORPHA:329478Adult-onset distal myopathy due to VCP mutationHP:0040282 - Frequent63


Genes (22) :AGRN AK9 CADM3 CAV3 CHRNA1 CHRNB1 CHRND CHRNE COL13A1 DOK7 DYSF FBXO38 HINT1 KLHL9 LDB3 LRP4 MUSK NEB RAPSN SCN4A STIM1 VCP

Diseases (11) :ORPHA:98913 OMIM:619519 ORPHA:488650 ORPHA:178400 OMIM:615575 ORPHA:324442 ORPHA:399081 ORPHA:98912 ORPHA:399103 OMIM:160565 ORPHA:329478
 

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