Human Phenotype Ontology 
Grandparent Node:
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Abnormality of the musculature of the lower limbs (HP:0001437)help
Parent Node:
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Abnormality of the calf musculature (HP:0001430)help
..Starting node
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Calf muscle pseudohypertrophy (HP:0003707)help
Term ID: 3707
Name: Calf muscle pseudohypertrophy
Synonym: Pseudohypertrophy of the calves
Definition: Enlargement of the muscles of the calf due to their replacement by connective tissue or fat.
Comments:
Reference: HP:0003707
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandCalf muscle hypertrophy (HP:0008981) help
..expandCalf muscle hypoplasia (HP:0008962) help
..expandPeroneal muscle atrophy (HP:0009049) help
..expandScapuloperoneal myopathy (HP:0009054) 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:0003707HP:0003707Calf muscle pseudohypertrophy0ANO5 CL E G H20385927337ORPHA:399096Distal anoctaminopathyHP:0040283 - Occasional304
HP:0003707HP:0003707Calf muscle pseudohypertrophy0CAV3 CL E G H8591529ORPHA:488650Distal myopathy, Tateyama typeHP:0040282 - Frequent148
HP:0003707HP:0003707Calf muscle pseudohypertrophy0CRPPA CL E G H72992037276ORPHA:352479ISPD-related limb-girdle muscular dystrophy R20HP:0040282 - Frequent
HP:0003707HP:0003707Calf muscle pseudohypertrophy0DAG1 CL E G H16052666ORPHA:280333Alpha-dystroglycan-related limb-girdle muscular dystrophy R16HP:0040283 - Occasional108
HP:0003707HP:0003707Calf muscle pseudohypertrophy0DMD CL E G H17562928OMIM:310200Duchenne muscular dystrophy.1496
HP:0003707HP:0003707Calf muscle pseudohypertrophy0DMD CL E G H17562928OMIM:300376Muscular dystrophy, Becker type.1496
HP:0003707HP:0003707Calf muscle pseudohypertrophy0FKRP CL E G H7914717997ORPHA:370959Congenital muscular dystrophy with cerebellar involvementHP:0040282 - Frequent157
HP:0003707HP:0003707Calf muscle pseudohypertrophy0GMPPB CL E G H2992522932ORPHA:370959Congenital muscular dystrophy with cerebellar involvementHP:0040282 - Frequent34
HP:0003707HP:0003707Calf muscle pseudohypertrophy0MYH7 CL E G H46257577OMIM:608358Myopathy, myosin storage.1269
HP:0003707HP:0003707Calf muscle pseudohypertrophy0NEB CL E G H47037720OMIM:256030Nemaline myopathy 2, autosomal recessive745
HP:0003707HP:0003707Calf muscle pseudohypertrophy0POMGNT1 CL E G H5562419139ORPHA:370959Congenital muscular dystrophy with cerebellar involvementHP:0040282 - Frequent180
HP:0003707HP:0003707Calf muscle pseudohypertrophy0POMK CL E G H8419726267ORPHA:370959Congenital muscular dystrophy with cerebellar involvementHP:0040282 - Frequent18
HP:0003707HP:0003707Calf muscle pseudohypertrophy0POMT1 CL E G H105859202ORPHA:370959Congenital muscular dystrophy with cerebellar involvementHP:0040282 - Frequent213
HP:0003707HP:0003707Calf muscle pseudohypertrophy0POMT2 CL E G H2995419743ORPHA:370959Congenital muscular dystrophy with cerebellar involvementHP:0040282 - Frequent221
HP:0003707HP:0003707Calf muscle pseudohypertrophy0PPARG CL E G H54689236ORPHA:79083PPARG-related familial partial lipodystrophyHP:0040283 - Occasional42
HP:0003707HP:0003707Calf muscle pseudohypertrophy0SGCA CL E G H644210805ORPHA:62Alpha-sarcoglycan-related limb-girdle muscular dystrophy R3HP:0040282 - Frequent132
HP:0003707HP:0003707Calf muscle pseudohypertrophy0SGCB CL E G H644310806OMIM:604286Muscular dystrophy, limb-girdle, type 2E.113
HP:0003707HP:0003707Calf muscle pseudohypertrophy0SGCG CL E G H644510809ORPHA:353Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5HP:0040282 - Frequent83
HP:0003707HP:0003707Calf muscle pseudohypertrophy0SGCG CL E G H644510809OMIM:253700Muscular dystrophy, limb-girdle, type 2C.83
HP:0003707HP:0003707Calf muscle pseudohypertrophy0TRIM32 CL E G H2295416380OMIM:254110Muscular dystrophy, limb-girdle, type 2H.108


Genes (18) :ANO5 CAV3 CRPPA DAG1 DMD FKRP GMPPB MYH7 NEB POMGNT1 POMK POMT1 POMT2 PPARG SGCA SGCB SGCG TRIM32

Diseases (15) :ORPHA:399096 ORPHA:488650 ORPHA:352479 ORPHA:280333 OMIM:310200 OMIM:300376 ORPHA:370959 OMIM:608358 OMIM:256030 ORPHA:79083 ORPHA:62 OMIM:604286 ORPHA:353 OMIM:253700 OMIM:254110
 

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