Human Phenotype Ontology 
Grandparent Node:
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Areflexia of lower limbs (HP:0002522)help
Parent Node:
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Decreased/absent ankle reflexes (HP:0200101)help
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Absent Achilles reflex (HP:0003438)help
Term ID: 3438
Name: Absent Achilles reflex
Synonym: Absent ankle reflexes
Definition: Absence of the Achilles reflex (also known as the ankle jerk reflex), which can normally be elicited by tapping the tendon is tapped while the foot is dorsiflexed.
Comments:
Reference: HP:0003438
Genes and Diseases:
 
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InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0003438HP:0003438Absent Achilles reflex0AARS1 CL E G H1620OMIM:613287Charcot-Marie-Tooth disease, axonal, type 2N
HP:0003438HP:0003438Absent Achilles reflex0ALDH18A1 CL E G H58329722ORPHA:447757Autosomal dominant spastic paraplegia type 9BHP:0040283 - Occasional89
HP:0003438HP:0003438Absent Achilles reflex0ALDH18A1 CL E G H58329722ORPHA:447760Autosomal recessive spastic paraplegia type 9BHP:0040283 - Occasional89
HP:0003438HP:0003438Absent Achilles reflex0ARL6IP1 CL E G H23204697OMIM:615685Spastic paraplegia 61, autosomal recessive.1
HP:0003438HP:0003438Absent Achilles reflex0ATP6AP2 CL E G H1015918305ORPHA:93952X-linked intellectual disability, Hedera typeHP:0040283 - Occasional36
HP:0003438HP:0003438Absent Achilles reflex0ATXN3 CL E G H42877106OMIM:109150Machado-Joseph disease.14
HP:0003438HP:0003438Absent Achilles reflex0C19ORF12 CL E G H8363625443ORPHA:320370Autosomal recessive spastic paraplegia type 43HP:0040282 - Frequent114
HP:0003438HP:0003438Absent Achilles reflex0CADM3 CL E G H5786317601OMIM:619519CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2FF; CMT2FF1
HP:0003438HP:0003438Absent Achilles reflex0DYSF CL E G H82913097ORPHA:178400Distal myopathy with anterior tibial onsetHP:0040283 - Occasional600
HP:0003438HP:0003438Absent Achilles reflex0GBE1 CL E G H26324180OMIM:263570Polyglucosan body neuropathy, adult form86
HP:0003438HP:0003438Absent Achilles reflex0GJB1 CL E G H27054283OMIM:302800Charcot-Marie-Tooth neuropathy, X-linked dominant, 1107
HP:0003438HP:0003438Absent Achilles reflex0GNE CL E G H1002023657ORPHA:602GNE myopathyHP:0040282 - Frequent173
HP:0003438HP:0003438Absent Achilles reflex0HARS1 CL E G H30354816ORPHA:488333Autosomal dominant Charcot-Marie-Tooth disease type 2WHP:0040283 - Occasional
HP:0003438HP:0003438Absent Achilles reflex0HARS1 CL E G H30354816OMIM:616625Charcot-Marie-Tooth disease, axonal, type 2W
HP:0003438HP:0003438Absent Achilles reflex0HINT1 CL E G H30944912ORPHA:324442Autosomal recessive axonal neuropathy with neuromyotoniaHP:0040282 - Frequent12
HP:0003438HP:0003438Absent Achilles reflex0HSPB3 CL E G H89885248OMIM:613376Neuronopathy, distal hereditary motor, type IIC13
HP:0003438HP:0003438Absent Achilles reflex0KLC2 CL E G H6483720716OMIM:609541Spastic paraplegia, optic atrophy, and neuropathy1
HP:0003438HP:0003438Absent Achilles reflex0KLHL9 CL E G H5595818732ORPHA:399081KLHL9-related early-onset distal myopathyHP:0040283 - Occasional3
HP:0003438HP:0003438Absent Achilles reflex0MFN2 CL E G H992716877ORPHA:99947Autosomal dominant Charcot-Marie-Tooth disease type 2A2HP:0040281 - Very frequent203
HP:0003438HP:0003438Absent Achilles reflex0MORC2 CL E G H2288023573OMIM:616688Charcot-Marie-Tooth disease, axonal, type 2Z8
HP:0003438HP:0003438Absent Achilles reflex0MRE11 CL E G H43617230ORPHA:251347Ataxia-telangiectasia-like disorderHP:0040282 - Frequent532
HP:0003438HP:0003438Absent Achilles reflex0MYOT CL E G H949912399OMIM:182920Myopathy, spheroid body.75
HP:0003438HP:0003438Absent Achilles reflex0OPA1 CL E G H49768140ORPHA:1215Autosomal dominant optic atrophy plus syndromeHP:0040283 - Occasional214
HP:0003438HP:0003438Absent Achilles reflex0OPA3 CL E G H802078142ORPHA:67036Autosomal dominant optic atrophy and cataractHP:0040283 - Occasional163
HP:0003438HP:0003438Absent Achilles reflex0PDK3 CL E G H51658811ORPHA:352675X-linked Charcot-Marie-Tooth disease type 6HP:0040281 - Very frequent4
HP:0003438HP:0003438Absent Achilles reflex0PEX10 CL E G H51928851OMIM:614871Peroxisome biogenesis disorder 6B75
HP:0003438HP:0003438Absent Achilles reflex0PLEKHG4 CL E G H2589424501ORPHA:98765Spinocerebellar ataxia type 4HP:0040281 - Very frequent4
HP:0003438HP:0003438Absent Achilles reflex0PMP2 CL E G H53759117OMIM:618279Charcot-Marie-Tooth disease, demyelinating, type 1G1
HP:0003438HP:0003438Absent Achilles reflex0POLG CL E G H54289179ORPHA:254892Autosomal dominant progressive external ophthalmoplegiaHP:0040284 - Very rare464
HP:0003438HP:0003438Absent Achilles reflex0POLG CL E G H54289179OMIM:607459Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis464
HP:0003438HP:0003438Absent Achilles reflex0POLG2 CL E G H112329180ORPHA:254892Autosomal dominant progressive external ophthalmoplegiaHP:0040284 - Very rare45
HP:0003438HP:0003438Absent Achilles reflex0RAB7A CL E G H78799788OMIM:600882Charcot-Marie-Tooth disease, axonal, type 2B50
HP:0003438HP:0003438Absent Achilles reflex0REEP1 CL E G H6505525786OMIM:62001187
HP:0003438HP:0003438Absent Achilles reflex0RRM2B CL E G H5048417296ORPHA:254892Autosomal dominant progressive external ophthalmoplegiaHP:0040284 - Very rare125
HP:0003438HP:0003438Absent Achilles reflex0SACS CL E G H2627810519ORPHA:98Autosomal recessive spastic ataxia of Charlevoix-SaguenayHP:0040283 - Occasional309
HP:0003438HP:0003438Absent Achilles reflex0SACS CL E G H2627810519OMIM:270550Spastic ataxia, Charlevoix-Saguenay type309
HP:0003438HP:0003438Absent Achilles reflex0SLC25A4 CL E G H29110990ORPHA:254892Autosomal dominant progressive external ophthalmoplegiaHP:0040284 - Very rare68
HP:0003438HP:0003438Absent Achilles reflex0SMN1 CL E G H660611117OMIM:253400Spinal muscular atrophy, type III22
HP:0003438HP:0003438Absent Achilles reflex0SMN2 CL E G H660711118OMIM:253400Spinal muscular atrophy, type III1
HP:0003438HP:0003438Absent Achilles reflex0SQSTM1 CL E G H887811280OMIM:617158MYOPATHY, DISTAL, WITH RIMMED VACUOLES; DMRV62
HP:0003438HP:0003438Absent Achilles reflex0TOR1A CL E G H18613098OMIM:128100Dystonia 1, torsion, autosomal dominant47
HP:0003438HP:0003438Absent Achilles reflex0TWNK CL E G H566521160ORPHA:254892Autosomal dominant progressive external ophthalmoplegiaHP:0040284 - Very rare113
HP:0003438HP:0003438Absent Achilles reflex0TWNK CL E G H566521160OMIM:607459Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis113
HP:0003438HP:0003438Absent Achilles reflex0VCP CL E G H741512666ORPHA:435387Autosomal dominant Charcot-Marie-Tooth disease type 2YHP:0040282 - Frequent63
HP:0003438HP:0003438Absent Achilles reflex0VPS13A CL E G H232301908ORPHA:2388ChoreoacanthocytosisHP:0040282 - Frequent130
HP:0003438HP:0003438Absent Achilles reflex0XK CL E G H750412811OMIM:300842Mcleod syndrome8


Genes (41) :AARS1 ALDH18A1 ARL6IP1 ATP6AP2 ATXN3 C19ORF12 CADM3 DYSF GBE1 GJB1 GNE HARS1 HINT1 HSPB3 KLC2 KLHL9 MFN2 MORC2 MRE11 MYOT OPA1 OPA3 PDK3 PEX10 PLEKHG4 PMP2 POLG POLG2 RAB7A REEP1 RRM2B SACS SLC25A4 SMN1 SMN2 SQSTM1 TOR1A TWNK VCP VPS13A XK

Diseases (40) :OMIM:613287 ORPHA:447757 ORPHA:447760 OMIM:615685 ORPHA:93952 OMIM:109150 ORPHA:320370 OMIM:619519 ORPHA:178400 OMIM:263570 OMIM:302800 ORPHA:602 ORPHA:488333 OMIM:616625 ORPHA:324442 OMIM:613376 OMIM:609541 ORPHA:399081 ORPHA:99947 OMIM:616688 ORPHA:251347 OMIM:182920 ORPHA:1215 ORPHA:67036 ORPHA:352675 OMIM:614871 ORPHA:98765 OMIM:618279 ORPHA:254892 OMIM:607459 OMIM:600882 OMIM:620011 ORPHA:98 OMIM:270550 OMIM:253400 OMIM:617158 OMIM:128100 ORPHA:435387 ORPHA:2388 OMIM:300842
 

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