Human Phenotype Ontology 
Grandparent Node:
expand
Abnormality of the musculature of the lower limbs (HP:0001437)help
Grandparent Node:
expand
Skeletal muscle hypertrophy (HP:0003712)help
Parent Node:
expand
Abnormality of the calf musculature (HP:0001430)help
Parent Node:
expand
Muscle hypertrophy of the lower extremities (HP:0008968)help
..Starting node
..expand
Calf muscle hypertrophy (HP:0008981)help
Term ID: 8981
Name: Calf muscle hypertrophy
Synonym: Calf hypertrophy; Increased size of calf muscles; Muscular hypertrophy of the calf muscles
Definition: Muscle hypertrophy affecting the calf muscles.
Comments:
Reference: HP:0008981
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandThigh hypertrophy (HP:0003733) 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:0008981HP:0008981Calf muscle hypertrophy0ANO5 CL E G H20385927337ORPHA:206549Anoctamin-5-related limb-girdle muscular dystrophy R12HP:0040283 - Occasional304
HP:0008981HP:0008981Calf muscle hypertrophy0ANO5 CL E G H20385927337OMIM:613319Miyoshi muscular dystrophy 3.304
HP:0008981HP:0008981Calf muscle hypertrophy0ANO5 CL E G H20385927337OMIM:611307Muscular dystrophy, limb-girdle, type 2L.304
HP:0008981HP:0008981Calf muscle hypertrophy0AR CL E G H367644OMIM:313200Spinal and bulbar muscular atrophy, X-linked 1.125
HP:0008981HP:0008981Calf muscle hypertrophy0BIN1 CL E G H2741052ORPHA:169189Autosomal dominant centronuclear myopathyHP:0040283 - Occasional99
HP:0008981HP:0008981Calf muscle hypertrophy0CAPN3 CL E G H8251480ORPHA:267Calpain-3-related limb-girdle muscular dystrophy R1HP:0040282 - Frequent323
HP:0008981HP:0008981Calf muscle hypertrophy0CAV3 CL E G H8591529OMIM:614321Myopathy, distal, Tateyama type.148
HP:0008981HP:0008981Calf muscle hypertrophy0CHCHD10 CL E G H40091615559OMIM:615048Spinal muscular atrophy, Jokela typeHP:0040283 - Occasional11
HP:0008981HP:0008981Calf muscle hypertrophy0CIDEC CL E G H6392424229ORPHA:435651CIDEC-related familial partial lipodystrophyHP:0040281 - Very frequent8
HP:0008981HP:0008981Calf muscle hypertrophy0CRPPA CL E G H72992037276OMIM:616052Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7.
HP:0008981HP:0008981Calf muscle hypertrophy0DAG1 CL E G H16052666ORPHA:280333Alpha-dystroglycan-related limb-girdle muscular dystrophy R16HP:0040282 - Frequent108
HP:0008981HP:0008981Calf muscle hypertrophy0DHX16 CL E G H84492739OMIM:618733NEUROMUSCULAR OCULOAUDITORY SYNDROME; NMOAS
HP:0008981HP:0008981Calf muscle hypertrophy0DMD CL E G H17562928ORPHA:98896Duchenne muscular dystrophyHP:0040281 - Very frequent1496
HP:0008981HP:0008981Calf muscle hypertrophy0DMD CL E G H17562928OMIM:310200Duchenne muscular dystrophy1496
HP:0008981HP:0008981Calf muscle hypertrophy0DMD CL E G H17562928ORPHA:206546Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers1496
HP:0008981HP:0008981Calf muscle hypertrophy0DNM2 CL E G H17852974ORPHA:169189Autosomal dominant centronuclear myopathyHP:0040283 - Occasional167
HP:0008981HP:0008981Calf muscle hypertrophy0DPM3 CL E G H543443007ORPHA:263494DPM3-CDGHP:0040282 - Frequent9
HP:0008981HP:0008981Calf muscle hypertrophy0DYSF CL E G H82913097ORPHA:268Dysferlin-related limb-girdle muscular dystrophy R2HP:0040283 - Occasional600
HP:0008981HP:0008981Calf muscle hypertrophy0DYSF CL E G H82913097ORPHA:45448Miyoshi myopathyHP:0040283 - Occasional600
HP:0008981HP:0008981Calf muscle hypertrophy0FKRP CL E G H7914717997ORPHA:370968Congenital muscular dystrophy with intellectual disabilityHP:0040282 - Frequent157
HP:0008981HP:0008981Calf muscle hypertrophy0FKRP CL E G H7914717997ORPHA:34515FKRP-related limb-girdle muscular dystrophy R9HP:0040282 - Frequent157
HP:0008981HP:0008981Calf muscle hypertrophy0FKRP CL E G H7914717997OMIM:606612MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH OR WITHOUTMENTAL RETARDATION), TYPE B, 5.157
HP:0008981HP:0008981Calf muscle hypertrophy0FKRP CL E G H7914717997OMIM:607155Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5.157
HP:0008981HP:0008981Calf muscle hypertrophy0FKTN CL E G H22183622OMIM:611615Cardiomyopathy, dilated, 1X184
HP:0008981HP:0008981Calf muscle hypertrophy0FKTN CL E G H22183622OMIM:253800MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 4.184
HP:0008981HP:0008981Calf muscle hypertrophy0FRG1 CL E G H24833954OMIM:158900Facioscapulohumeral muscular dystrophy 1.1
HP:0008981HP:0008981Calf muscle hypertrophy0GMPPB CL E G H2992522932ORPHA:370968Congenital muscular dystrophy with intellectual disabilityHP:0040282 - Frequent34
HP:0008981HP:0008981Calf muscle hypertrophy0KCNA1 CL E G H37366218ORPHA:37612Episodic ataxia type 1HP:0040283 - Occasional145
HP:0008981HP:0008981Calf muscle hypertrophy0LAMA2 CL E G H39086482OMIM:618138MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 23; LGMDR23411
HP:0008981HP:0008981Calf muscle hypertrophy0LARGE1 CL E G H92156511ORPHA:370968Congenital muscular dystrophy with intellectual disabilityHP:0040282 - Frequent136
HP:0008981HP:0008981Calf muscle hypertrophy0LARGE1 CL E G H92156511OMIM:608840MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 6136
HP:0008981HP:0008981Calf muscle hypertrophy0LIMS2 CL E G H5567916084OMIM:616827Muscular dystrophy, limb-girdle, type 2W10
HP:0008981HP:0008981Calf muscle hypertrophy0LMNA CL E G H40006636ORPHA:79474Atypical Werner syndromeHP:0040281 - Very frequent645
HP:0008981HP:0008981Calf muscle hypertrophy0LTBP4 CL E G H84256717ORPHA:98896Duchenne muscular dystrophyHP:0040281 - Very frequent92
HP:0008981HP:0008981Calf muscle hypertrophy0MAP3K20 CL E G H5177617797OMIM:617760Myopathy, centronuclear, 6, with fiber-type disproportion.2
HP:0008981HP:0008981Calf muscle hypertrophy0MICU1 CL E G H103671530OMIM:615673Myopathy with extrapyramidal signs14
HP:0008981HP:0008981Calf muscle hypertrophy0MTMR14 CL E G H6441926190ORPHA:169189Autosomal dominant centronuclear myopathyHP:0040283 - Occasional7
HP:0008981HP:0008981Calf muscle hypertrophy0MYF6 CL E G H46187566ORPHA:169189Autosomal dominant centronuclear myopathyHP:0040283 - Occasional19
HP:0008981HP:0008981Calf muscle hypertrophy0MYH7 CL E G H46257577OMIM:255160Myopathy, myosin storage, autosomal recessive1269
HP:0008981HP:0008981Calf muscle hypertrophy0PLEC CL E G H53399069ORPHA:254361Plectin-related limb-girdle muscular dystrophy R17HP:0040283 - Occasional759
HP:0008981HP:0008981Calf muscle hypertrophy0PLIN1 CL E G H53469076ORPHA:280356PLIN1-related familial partial lipodystrophyHP:0040281 - Very frequent19
HP:0008981HP:0008981Calf muscle hypertrophy0PMP22 CL E G H53769118ORPHA:101081Charcot-Marie-Tooth disease type 1AHP:0040283 - Occasional79
HP:0008981HP:0008981Calf muscle hypertrophy0POMGNT1 CL E G H5562419139OMIM:613157Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3180
HP:0008981HP:0008981Calf muscle hypertrophy0POMGNT2 CL E G H8489225902OMIM:618135Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 8.33
HP:0008981HP:0008981Calf muscle hypertrophy0POMT1 CL E G H105859202ORPHA:370968Congenital muscular dystrophy with intellectual disabilityHP:0040282 - Frequent213
HP:0008981HP:0008981Calf muscle hypertrophy0POMT1 CL E G H105859202OMIM:613155MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1213
HP:0008981HP:0008981Calf muscle hypertrophy0POMT1 CL E G H105859202ORPHA:86812POMT1-related limb-girdle muscular dystrophy R11HP:0040282 - Frequent213
HP:0008981HP:0008981Calf muscle hypertrophy0POMT2 CL E G H2995419743ORPHA:370968Congenital muscular dystrophy with intellectual disabilityHP:0040282 - Frequent221
HP:0008981HP:0008981Calf muscle hypertrophy0POMT2 CL E G H2995419743ORPHA:206559POMT2-related limb-girdle muscular dystrophy R14HP:0040283 - Occasional221
HP:0008981HP:0008981Calf muscle hypertrophy0POPDC3 CL E G H6420817649OMIM:618848MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 26; LGMDR26
HP:0008981HP:0008981Calf muscle hypertrophy0RYR1 CL E G H626110483ORPHA:169189Autosomal dominant centronuclear myopathyHP:0040283 - Occasional1200
HP:0008981HP:0008981Calf muscle hypertrophy0SGCA CL E G H644210805OMIM:608099Muscular dystrophy, limb-girdle, type 2D.132
HP:0008981HP:0008981Calf muscle hypertrophy0SGCB CL E G H644310806ORPHA:119Beta-sarcoglycan-related limb-girdle muscular dystrophy R4HP:0040282 - Frequent113
HP:0008981HP:0008981Calf muscle hypertrophy0SGCD CL E G H644410807OMIM:601287Muscular dystrophy, limb-girdle, type 2F.223
HP:0008981HP:0008981Calf muscle hypertrophy0SGCG CL E G H644510809ORPHA:353Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5HP:0040282 - Frequent83
HP:0008981HP:0008981Calf muscle hypertrophy0SLC25A1 CL E G H657610979OMIM:618197Myasthenic syndrome, congenital, 23, presynaptic.28
HP:0008981HP:0008981Calf muscle hypertrophy0SMN1 CL E G H660611117OMIM:271150Spinal muscular atrophy, type IV22
HP:0008981HP:0008981Calf muscle hypertrophy0TCAP CL E G H855711610OMIM:601954Muscular dystrophy, limb-girdle, type 2G.78
HP:0008981HP:0008981Calf muscle hypertrophy0TTN CL E G H727312403ORPHA:178464Hereditary myopathy with early respiratory failureHP:0040283 - Occasional7128
HP:0008981HP:0008981Calf muscle hypertrophy0TTN CL E G H727312403OMIM:603689Myopathy, myofibrillar, 9, with early respiratory failure7128
HP:0008981HP:0008981Calf muscle hypertrophy0TTN CL E G H727312403OMIM:611705Salih myopathy.7128
HP:0008981HP:0008981Calf muscle hypertrophy0UNC45B CL E G H14686214304OMIM:619178MYOFIBRILLAR MYOPATHY 11; MFM111


Genes (47) :ANO5 AR BIN1 CAPN3 CAV3 CHCHD10 CIDEC CRPPA DAG1 DHX16 DMD DNM2 DPM3 DYSF FKRP FKTN FRG1 GMPPB KCNA1 LAMA2 LARGE1 LIMS2 LMNA LTBP4 MAP3K20 MICU1 MTMR14 MYF6 MYH7 PLEC PLIN1 PMP22 POMGNT1 POMGNT2 POMT1 POMT2 POPDC3 RYR1 SGCA SGCB SGCD SGCG SLC25A1 SMN1 TCAP TTN UNC45B

Diseases (53) :ORPHA:206549 OMIM:613319 OMIM:611307 OMIM:313200 ORPHA:169189 ORPHA:267 OMIM:614321 OMIM:615048 ORPHA:435651 OMIM:616052 ORPHA:280333 OMIM:618733 ORPHA:98896 OMIM:310200 ORPHA:206546 ORPHA:263494 ORPHA:268 ORPHA:45448 ORPHA:370968 ORPHA:34515 OMIM:606612 OMIM:607155 OMIM:611615 OMIM:253800 OMIM:158900 ORPHA:37612 OMIM:618138 OMIM:608840 OMIM:616827 ORPHA:79474 OMIM:617760 OMIM:615673 OMIM:255160 ORPHA:254361 ORPHA:280356 ORPHA:101081 OMIM:613157 OMIM:618135 OMIM:613155 ORPHA:86812 ORPHA:206559 OMIM:618848 OMIM:608099 ORPHA:119 OMIM:601287 ORPHA:353 OMIM:618197 OMIM:271150 OMIM:601954 ORPHA:178464 OMIM:603689 OMIM:611705 OMIM:619178
 

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