Human Phenotype
Ontology
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Grandparent Node: Abnormality of the musculature of the hand (HP:0001421) | Grandparent Node: Distal upper limb amyotrophy (HP:0007149) | Parent Node: Hand muscle atrophy (HP:0009130) | ..Starting node ..Thenar muscle atrophy (HP:0003393)
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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: |
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Reference: |
HP:0003393 |
Genes and Diseases: | | Child Nodes: | Sister Nodes: | ..Intrinsic hand muscle atrophy (HP:0008954)
| Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | HGNC ID | DiseaseId | DiseaseName | Frequency | Onset | HGMD variants | ClinVar variants |
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HPO disease - gene - phenotype typical associations: | HPO disease - gene - phenotype less frequent non-typical associations: | HP:0003393 | HP:0003393 | Thenar muscle atrophy | 0 | BSCL2 CL E G H | 26580 | 15832 | ORPHA:139536 | Distal hereditary motor neuropathy type 5 | HP:0040282 - Frequent | | | 105 | | | HP:0003393 | HP:0003393 | Thenar muscle atrophy | 0 | BSCL2 CL E G H | 26580 | 15832 | OMIM:619112 | NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VC; HMN5C | | | | 105 | | | HP:0003393 | HP:0003393 | Thenar muscle atrophy | 0 | BSCL2 CL E G H | 26580 | 15832 | OMIM:270685 | Spastic paraplegia 17 | . | | | 105 | | | HP:0003393 | HP:0003393 | Thenar muscle atrophy | 0 | COMP CL E G H | 1311 | 2227 | OMIM:619161 | CARPAL TUNNEL SYNDROME 2; CTS2 | | | | 89 | | | HP:0003393 | HP:0003393 | Thenar muscle atrophy | 0 | GARS1 CL E G H | 2617 | 4162 | OMIM:601472 | Charcot-Marie-Tooth disease, axonal, type 2D | . | | | | | | HP:0003393 | HP:0003393 | Thenar muscle atrophy | 0 | GARS1 CL E G H | 2617 | 4162 | ORPHA:139536 | Distal hereditary motor neuropathy type 5 | HP:0040282 - Frequent | | | | | | HP:0003393 | HP:0003393 | Thenar muscle atrophy | 0 | GARS1 CL E G H | 2617 | 4162 | OMIM:600794 | Neuronopathy, distal hereditary motor, type VA | . | | | | | | HP:0003393 | HP:0003393 | Thenar muscle atrophy | 0 | GBF1 CL E G H | 8729 | 4181 | OMIM:606483 | Charcot-Marie-Tooth disease, dominant intermediate A | | | | | | | HP:0003393 | HP:0003393 | Thenar muscle atrophy | 0 | IDUA CL E G H | 3425 | 5391 | OMIM:607015 | Hurler-Scheie syndrome | | | | 115 | | | HP:0003393 | HP:0003393 | Thenar muscle atrophy | 0 | NEB CL E G H | 4703 | 7720 | OMIM:256030 | Nemaline myopathy 2, autosomal recessive | | | | 745 | | | HP:0003393 | HP:0003393 | Thenar muscle atrophy | 0 | PDK3 CL E G H | 5165 | 8811 | ORPHA:352675 | X-linked Charcot-Marie-Tooth disease type 6 | HP:0040282 - Frequent | | | 4 | | | HP:0003393 | HP:0003393 | Thenar muscle atrophy | 0 | PLOD3 CL E G H | 8985 | 9083 | OMIM:612394 | Bone fragility with contractures, arterial rupture, and deafness | . | | | 5 | | | HP:0003393 | HP:0003393 | Thenar muscle atrophy | 0 | REEP1 CL E G H | 65055 | 25786 | ORPHA:139536 | Distal hereditary motor neuropathy type 5 | HP:0040282 - Frequent | | | 87 | | | HP:0003393 | HP:0003393 | Thenar muscle atrophy | 0 | SLC39A13 CL E G H | 91252 | 20859 | OMIM:612350 | Ehlers-Danlos syndrome, spondylodysplastic type, 3 | . | | | 24 | | | HP:0003393 | HP:0003393 | Thenar muscle atrophy | 0 | SLC39A13 CL E G H | 91252 | 20859 | ORPHA:157965 | SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome | HP:0040282 - Frequent | | | 24 | | | HP:0003393 | HP:0003393 | Thenar muscle atrophy | 0 | SLC5A6 CL E G H | 8884 | 11041 | OMIM:619903 | | | | | | | | HP:0003393 | HP:0003393 | Thenar muscle atrophy | 0 | SPG11 CL E G H | 80208 | 11226 | OMIM:604360 | Spastic 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.
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