Human Phenotype Ontology 
Grandparent Node:
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Abnormality of the musculature of the limbs (HP:0009127)help
Grandparent Node:
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Muscle weakness (HP:0001324)help
Parent Node:
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Abnormality of the hip-girdle musculature (HP:0001445)help
Parent Node:
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Limb-girdle muscle weakness (HP:0003325)help
..Starting node
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Pelvic girdle muscle weakness (HP:0003749)help
Term ID: 3749
Name: Pelvic girdle muscle weakness
Synonym: Hip girdle muscle weakness; Hip girdle weakness; Hip-girdle muscle weakness; Pelvic girdle weakness
Definition: Weakness of the muscles of the pelvic girdle (also known as the hip girdle), that is, lack of strength of the muscles around the pelvis.
Comments:
Reference: HP:0003749
Genes and Diseases:
 
       Child Nodes:
........expandHip flexor weakness (HP:0012515) help

 Sister Nodes: 
..expandShoulder girdle muscle weakness (HP:0003547) 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:0003749HP:0003749Pelvic girdle muscle weakness0ACTA1 CL E G H58129ORPHA:2020Congenital fiber-type disproportion myopathyHP:0040283 - Occasional96
HP:0003749HP:0003749Pelvic girdle muscle weakness0AGRN CL E G H375790329ORPHA:98913Postsynaptic congenital myasthenic syndromes127
HP:0003749HP:0003749Pelvic girdle muscle weakness0AK9 CL E G H22126433814ORPHA:98913Postsynaptic congenital myasthenic syndromes1
HP:0003749HP:0003749Pelvic girdle muscle weakness0ANO5 CL E G H20385927337OMIM:611307Muscular dystrophy, limb-girdle, type 2L.304
HP:0003749HP:0003749Pelvic girdle muscle weakness0CHRNA1 CL E G H11341955ORPHA:98913Postsynaptic congenital myasthenic syndromes74
HP:0003749HP:0003749Pelvic girdle muscle weakness0CHRNB1 CL E G H11401961ORPHA:98913Postsynaptic congenital myasthenic syndromes53
HP:0003749HP:0003749Pelvic girdle muscle weakness0CHRND CL E G H11441965ORPHA:98913Postsynaptic congenital myasthenic syndromes88
HP:0003749HP:0003749Pelvic girdle muscle weakness0CHRNE CL E G H11451966ORPHA:98913Postsynaptic congenital myasthenic syndromes139
HP:0003749HP:0003749Pelvic girdle muscle weakness0COL13A1 CL E G H13052190ORPHA:98913Postsynaptic congenital myasthenic syndromes6
HP:0003749HP:0003749Pelvic girdle muscle weakness0DGUOK CL E G H17162858ORPHA:329314Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiencyHP:0040283 - Occasional57
HP:0003749HP:0003749Pelvic girdle muscle weakness0DNAJB6 CL E G H1004914888OMIM:603511Muscular dystrophy, limb-girdle, type 1E.103
HP:0003749HP:0003749Pelvic girdle muscle weakness0DOK7 CL E G H28548926594ORPHA:98913Postsynaptic congenital myasthenic syndromes91
HP:0003749HP:0003749Pelvic girdle muscle weakness0DPM3 CL E G H543443007ORPHA:263494DPM3-CDGHP:0040282 - Frequent9
HP:0003749HP:0003749Pelvic girdle muscle weakness0DYSF CL E G H82913097ORPHA:45448Miyoshi myopathyHP:0040282 - Frequent600
HP:0003749HP:0003749Pelvic girdle muscle weakness0FKRP CL E G H7914717997ORPHA:34515FKRP-related limb-girdle muscular dystrophy R9HP:0040282 - Frequent157
HP:0003749HP:0003749Pelvic girdle muscle weakness0FKRP CL E G H7914717997OMIM:607155Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5.157
HP:0003749HP:0003749Pelvic girdle muscle weakness0FLNC CL E G H23183756ORPHA:63273Distal myopathy with posterior leg and anterior hand involvement197
HP:0003749HP:0003749Pelvic girdle muscle weakness0GNE CL E G H1002023657ORPHA:602GNE myopathy173
HP:0003749HP:0003749Pelvic girdle muscle weakness0GYG1 CL E G H29924699OMIM:616199Polyglucosan body myopathy 218
HP:0003749HP:0003749Pelvic girdle muscle weakness0HACD1 CL E G H92009639ORPHA:2020Congenital fiber-type disproportion myopathyHP:0040283 - Occasional2
HP:0003749HP:0003749Pelvic girdle muscle weakness0HNRNPDL CL E G H99875037OMIM:609115Limb-girdle muscular dystrophy, type 1G.5
HP:0003749HP:0003749Pelvic girdle muscle weakness0ITGA7 CL E G H36796143ORPHA:2020Congenital fiber-type disproportion myopathyHP:0040283 - Occasional127
HP:0003749HP:0003749Pelvic girdle muscle weakness0LRP4 CL E G H40386696ORPHA:98913Postsynaptic congenital myasthenic syndromes124
HP:0003749HP:0003749Pelvic girdle muscle weakness0MAP3K20 CL E G H5177617797ORPHA:2020Congenital fiber-type disproportion myopathyHP:0040283 - Occasional2
HP:0003749HP:0003749Pelvic girdle muscle weakness0MUSK CL E G H45937525ORPHA:98913Postsynaptic congenital myasthenic syndromes72
HP:0003749HP:0003749Pelvic girdle muscle weakness0MYH7 CL E G H46257577OMIM:608358Myopathy, myosin storage1269
HP:0003749HP:0003749Pelvic girdle muscle weakness0MYL2 CL E G H46337583ORPHA:2020Congenital fiber-type disproportion myopathyHP:0040283 - Occasional131
HP:0003749HP:0003749Pelvic girdle muscle weakness0MYOT CL E G H949912399ORPHA:266Autosomal dominant limb-girdle muscular dystrophy type 1AHP:0040281 - Very frequent75
HP:0003749HP:0003749Pelvic girdle muscle weakness0PHKA1 CL E G H52558925OMIM:300559Muscle glycogenosis, X-linked54
HP:0003749HP:0003749Pelvic girdle muscle weakness0PHKB CL E G H52578927ORPHA:79240Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency101
HP:0003749HP:0003749Pelvic girdle muscle weakness0PLEC CL E G H53399069ORPHA:254361Plectin-related limb-girdle muscular dystrophy R17HP:0040282 - Frequent759
HP:0003749HP:0003749Pelvic girdle muscle weakness0PNPLA2 CL E G H5710430802ORPHA:98908Neutral lipid storage myopathyHP:0040282 - Frequent65
HP:0003749HP:0003749Pelvic girdle muscle weakness0RAPSN CL E G H59139863ORPHA:98913Postsynaptic congenital myasthenic syndromes73
HP:0003749HP:0003749Pelvic girdle muscle weakness0RYR1 CL E G H626110483ORPHA:597Central core diseaseHP:0040282 - Frequent1200
HP:0003749HP:0003749Pelvic girdle muscle weakness0SCN4A CL E G H632910591ORPHA:98913Postsynaptic congenital myasthenic syndromes263
HP:0003749HP:0003749Pelvic girdle muscle weakness0SELENON CL E G H5719015999ORPHA:2020Congenital fiber-type disproportion myopathyHP:0040283 - Occasional144
HP:0003749HP:0003749Pelvic girdle muscle weakness0SGCB CL E G H644310806ORPHA:119Beta-sarcoglycan-related limb-girdle muscular dystrophy R4HP:0040282 - Frequent113
HP:0003749HP:0003749Pelvic girdle muscle weakness0SMCHD1 CL E G H2334729090OMIM:158901FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 2; FSHD2174
HP:0003749HP:0003749Pelvic girdle muscle weakness0SMN1 CL E G H660611117OMIM:253400Spinal muscular atrophy, type III22
HP:0003749HP:0003749Pelvic girdle muscle weakness0SMN2 CL E G H660711118OMIM:253400Spinal muscular atrophy, type III1
HP:0003749HP:0003749Pelvic girdle muscle weakness0TNPO3 CL E G H2353417103OMIM:608423Muscular dystrophy, limb-girdle, autosomal dominant 2.71
HP:0003749HP:0003749Pelvic girdle muscle weakness0TPM2 CL E G H716912011ORPHA:2020Congenital fiber-type disproportion myopathyHP:0040283 - Occasional54
HP:0003749HP:0003749Pelvic girdle muscle weakness0TPM3 CL E G H717012012ORPHA:2020Congenital fiber-type disproportion myopathyHP:0040283 - Occasional108
HP:0003749HP:0003749Pelvic girdle muscle weakness0TRIM32 CL E G H2295416380OMIM:254110Muscular dystrophy, limb-girdle, type 2H.108
HP:0003749HP:0003749Pelvic girdle muscle weakness0TRNE CL E G H45567479ORPHA:2596Myopathy and diabetes mellitusHP:0040283 - Occasional
HP:0003749HP:0003749Pelvic girdle muscle weakness0TTN CL E G H727312403OMIM:603689Myopathy, myofibrillar, 9, with early respiratory failure7128
HP:0003749HP:0003749Pelvic girdle muscle weakness0VCP CL E G H741512666OMIM:167320Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 1.63
HP:0003749HP:0033416Hip adductor weakness1 CL E G H
HP:0003749HP:0012515Hip flexor weakness1AGRN CL E G H375790329ORPHA:98913Postsynaptic congenital myasthenic syndromesHP:0040283 - Occasional127
HP:0003749HP:0012515Hip flexor weakness1AK9 CL E G H22126433814ORPHA:98913Postsynaptic congenital myasthenic syndromesHP:0040283 - Occasional1
HP:0003749HP:0012515Hip flexor weakness1CHRNA1 CL E G H11341955ORPHA:98913Postsynaptic congenital myasthenic syndromesHP:0040283 - Occasional74
HP:0003749HP:0012515Hip flexor weakness1CHRNB1 CL E G H11401961ORPHA:98913Postsynaptic congenital myasthenic syndromesHP:0040283 - Occasional53
HP:0003749HP:0012515Hip flexor weakness1CHRND CL E G H11441965ORPHA:98913Postsynaptic congenital myasthenic syndromesHP:0040283 - Occasional88
HP:0003749HP:0012515Hip flexor weakness1CHRNE CL E G H11451966ORPHA:98913Postsynaptic congenital myasthenic syndromesHP:0040283 - Occasional139
HP:0003749HP:0012515Hip flexor weakness1COL13A1 CL E G H13052190ORPHA:98913Postsynaptic congenital myasthenic syndromesHP:0040283 - Occasional6
HP:0003749HP:0012515Hip flexor weakness1DOK7 CL E G H28548926594ORPHA:98913Postsynaptic congenital myasthenic syndromesHP:0040283 - Occasional91
HP:0003749HP:0012515Hip flexor weakness1FLNC CL E G H23183756ORPHA:63273Distal myopathy with posterior leg and anterior hand involvementHP:0040282 - Frequent197
HP:0003749HP:0012515Hip flexor weakness1GNE CL E G H1002023657ORPHA:602GNE myopathyHP:0040282 - Frequent173
HP:0003749HP:0012515Hip flexor weakness1LRP4 CL E G H40386696ORPHA:98913Postsynaptic congenital myasthenic syndromesHP:0040283 - Occasional124
HP:0003749HP:0012515Hip flexor weakness1MUSK CL E G H45937525ORPHA:98913Postsynaptic congenital myasthenic syndromesHP:0040283 - Occasional72
HP:0003749HP:0012515Hip flexor weakness1MYOT CL E G H949912399ORPHA:266Autosomal dominant limb-girdle muscular dystrophy type 1AHP:0040282 - Frequent75
HP:0003749HP:0012515Hip flexor weakness1RAPSN CL E G H59139863ORPHA:98913Postsynaptic congenital myasthenic syndromesHP:0040283 - Occasional73
HP:0003749HP:0012515Hip flexor weakness1SCN4A CL E G H632910591ORPHA:98913Postsynaptic congenital myasthenic syndromesHP:0040283 - Occasional263


Genes (46) :ACTA1 AGRN AK9 ANO5 CHRNA1 CHRNB1 CHRND CHRNE COL13A1 DGUOK DNAJB6 DOK7 DPM3 DYSF FKRP FLNC GNE GYG1 HACD1 HNRNPDL ITGA7 LRP4 MAP3K20 MUSK MYH7 MYL2 MYOT PHKA1 PHKB PLEC PNPLA2 RAPSN RYR1 SCN4A SELENON SGCB SMCHD1 SMN1 SMN2 TNPO3 TPM2 TPM3 TRIM32 TRNE TTN VCP

Diseases (28) :ORPHA:2020 ORPHA:98913 OMIM:611307 ORPHA:329314 OMIM:603511 ORPHA:263494 ORPHA:45448 ORPHA:34515 OMIM:607155 ORPHA:63273 ORPHA:602 OMIM:616199 OMIM:609115 OMIM:608358 ORPHA:266 OMIM:300559 ORPHA:79240 ORPHA:254361 ORPHA:98908 ORPHA:597 ORPHA:119 OMIM:158901 OMIM:253400 OMIM:608423 OMIM:254110 ORPHA:2596 OMIM:603689 OMIM:167320
 

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