Human Phenotype Ontology 
Grandparent Node:
expandAbnormality of the musculature of the hand (HP:0001421)help
Grandparent Node:
expandDistal upper limb amyotrophy (HP:0007149)help
Parent Node:
expandHand muscle atrophy (HP:0009130)help
..Starting node
..expandThenar muscle atrophy (HP:0003393)help
Term ID: 3393
Name: Thenar muscle atrophy
Synonym: Thenar atrophy
Definition: Wasting of thenar muscles, which are located on palm of the hand at the base of the thumb.
Comments:
Reference: HP:0003393
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandIntrinsic hand muscle atrophy (HP:0008954) 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:0003393HP:0003393Thenar muscle atrophy0BSCL2 CL E G H2658015832ORPHA:139536Distal hereditary motor neuropathy type 5HP:0040282 - Frequent105
HP:0003393HP:0003393Thenar muscle atrophy0BSCL2 CL E G H2658015832OMIM:619112NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VC; HMN5C105
HP:0003393HP:0003393Thenar muscle atrophy0BSCL2 CL E G H2658015832OMIM:270685Spastic paraplegia 17.105
HP:0003393HP:0003393Thenar muscle atrophy0COMP CL E G H13112227OMIM:619161CARPAL TUNNEL SYNDROME 2; CTS289
HP:0003393HP:0003393Thenar muscle atrophy0GARS1 CL E G H26174162OMIM:601472Charcot-Marie-Tooth disease, axonal, type 2D.
HP:0003393HP:0003393Thenar muscle atrophy0GARS1 CL E G H26174162ORPHA:139536Distal hereditary motor neuropathy type 5HP:0040282 - Frequent
HP:0003393HP:0003393Thenar muscle atrophy0GARS1 CL E G H26174162OMIM:600794Neuronopathy, distal hereditary motor, type VA.
HP:0003393HP:0003393Thenar muscle atrophy0GBF1 CL E G H87294181OMIM:606483Charcot-Marie-Tooth disease, dominant intermediate A
HP:0003393HP:0003393Thenar muscle atrophy0IDUA CL E G H34255391OMIM:607015Hurler-Scheie syndrome115
HP:0003393HP:0003393Thenar muscle atrophy0NEB CL E G H47037720OMIM:256030Nemaline myopathy 2, autosomal recessive745
HP:0003393HP:0003393Thenar muscle atrophy0PDK3 CL E G H51658811ORPHA:352675X-linked Charcot-Marie-Tooth disease type 6HP:0040282 - Frequent4
HP:0003393HP:0003393Thenar muscle atrophy0PLOD3 CL E G H89859083OMIM:612394Bone fragility with contractures, arterial rupture, and deafness.5
HP:0003393HP:0003393Thenar muscle atrophy0REEP1 CL E G H6505525786ORPHA:139536Distal hereditary motor neuropathy type 5HP:0040282 - Frequent87
HP:0003393HP:0003393Thenar muscle atrophy0SLC39A13 CL E G H9125220859OMIM:612350Ehlers-Danlos syndrome, spondylodysplastic type, 3.24
HP:0003393HP:0003393Thenar muscle atrophy0SLC39A13 CL E G H9125220859ORPHA:157965SLC39A13-related spondylodysplastic Ehlers-Danlos syndromeHP:0040282 - Frequent24
HP:0003393HP:0003393Thenar muscle atrophy0SLC5A6 CL E G H888411041OMIM:619903
HP:0003393HP:0003393Thenar muscle atrophy0SPG11 CL E G H8020811226OMIM:604360Spastic paraplegia 11, autosomal recessive.287


Genes (12) :BSCL2 COMP GARS1 GBF1 IDUA NEB PDK3 PLOD3 REEP1 SLC39A13 SLC5A6 SPG11

Diseases (15) :ORPHA:139536 OMIM:619112 OMIM:270685 OMIM:619161 OMIM:601472 OMIM:600794 OMIM:606483 OMIM:607015 OMIM:256030 ORPHA:352675 OMIM:612394 OMIM:612350 ORPHA:157965 OMIM:619903 OMIM:604360
 

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