Human Phenotype Ontology 
Grandparent Node:
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Abnormality of the musculature (HP:0003011)help
Parent Node:
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Abnormal skeletal muscle morphology (HP:0011805)help
..Starting node
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Decreased muscle mass (HP:0003199)help
Term ID: 3199
Name: Decreased muscle mass
Synonym: Decreased muscle mass
Definition:
Comments:
Reference: HP:0003199
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandAbnormal muscle fiber morphology (HP:0004303) help
..expandAbnormality of muscle size (HP:0030236) help
..expandCalcinosis (HP:0003761) help
..expandFatty replacement of skeletal muscle (HP:0012548) help
..expandFirm muscles (HP:0003725) help
..expandFlexion contracture (HP:0001371) help
..expandGeneralized muscular appearance from birth (HP:0003716) help
..expandIntramuscular hematoma (HP:0012233) help
..expandLevator palpebrae superioris atrophy (HP:0012241) help
..expandMuscular dystrophy (HP:0003560) help
..expandMuscular edema (HP:0100748) help
..expandMyopathy (HP:0003198) help
..expandMyositis (HP:0100614) help
..expandRhabdomyolysis (HP:0003201) help
..expandSkeletal muscle fibrosis (HP:0030951) 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:0003199HP:0003199Decreased muscle mass0AKT1 CL E G H207391ORPHA:744Proteus syndromeHP:0040281 - Very frequent54
HP:0003199HP:0003199Decreased muscle mass0ALDOA CL E G H226414ORPHA:57Glycogen storage disease due to aldolase A deficiencyHP:0040283 - Occasional50
HP:0003199HP:0003199Decreased muscle mass0AP4E1 CL E G H23431573OMIM:613744Spastic paraplegia 51, autosomal recessive.48
HP:0003199HP:0003199Decreased muscle mass0ATP6V0A2 CL E G H2354518481ORPHA:357074Autosomal recessive cutis laxa type 2, classic typeHP:0040281 - Very frequent140
HP:0003199HP:0003199Decreased muscle mass0ATP6V0A2 CL E G H2354518481ORPHA:2834Wrinkly skin syndromeHP:0040281 - Very frequent140
HP:0003199HP:0003199Decreased muscle mass0ATP6V1A CL E G H523851ORPHA:357074Autosomal recessive cutis laxa type 2, classic typeHP:0040281 - Very frequent3
HP:0003199HP:0003199Decreased muscle mass0ATP6V1E1 CL E G H529857ORPHA:357074Autosomal recessive cutis laxa type 2, classic typeHP:0040281 - Very frequent2
HP:0003199HP:0003199Decreased muscle mass0BMP6 CL E G H6541073ORPHA:465508Symptomatic form of hemochromatosis type 1HP:0040282 - Frequent
HP:0003199HP:0003199Decreased muscle mass0CHRNE CL E G H11451966OMIM:608931Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency.139
HP:0003199HP:0003199Decreased muscle mass0CHST14 CL E G H11318924464ORPHA:2953Musculocontractural Ehlers-Danlos syndromeHP:0040281 - Very frequent27
HP:0003199HP:0003199Decreased muscle mass0COL12A1 CL E G H13032188ORPHA:536516Myopathic Ehlers-Danlos syndromeHP:0040283 - Occasional65
HP:0003199HP:0003199Decreased muscle mass0COLQ CL E G H82922226OMIM:603034Myasthenic syndrome, congenital, 5.90
HP:0003199HP:0003199Decreased muscle mass0CPLX1 CL E G H108152309OMIM:194190Wolf-Hirschhorn syndrome1
HP:0003199HP:0003199Decreased muscle mass0CTBP1 CL E G H14872494OMIM:194190Wolf-Hirschhorn syndrome2
HP:0003199HP:0003199Decreased muscle mass0DSE CL E G H2994021144ORPHA:2953Musculocontractural Ehlers-Danlos syndromeHP:0040281 - Very frequent13
HP:0003199HP:0003199Decreased muscle mass0ECEL1 CL E G H94273147OMIM:615065Arthrogryposis, distal, type 5D.37
HP:0003199HP:0003199Decreased muscle mass0FARSA CL E G H21933592OMIM:619013RAJAB INTERSTITIAL LUNG DISEASE WITH BRAIN CALCIFICATIONS 2; RILDBC2
HP:0003199HP:0003199Decreased muscle mass0FBN1 CL E G H22003603OMIM:154700Marfan syndrome.1361
HP:0003199HP:0003199Decreased muscle mass0FGFRL1 CL E G H538343693OMIM:194190Wolf-Hirschhorn syndrome
HP:0003199HP:0003199Decreased muscle mass0FSHB CL E G H24883964OMIM:229070Hypogonadotropic hypogonadism 24 without anosmiaHP:0040283 - Occasional23
HP:0003199HP:0003199Decreased muscle mass0FUCA1 CL E G H25174006ORPHA:349FucosidosisHP:0040282 - Frequent43
HP:0003199HP:0003199Decreased muscle mass0FUZ CL E G H8019926219ORPHA:3027Caudal regression sequenceHP:0040281 - Very frequent3
HP:0003199HP:0003199Decreased muscle mass0G6PC1 CL E G H25384056OMIM:232200Glycogen storage disease ia.
HP:0003199HP:0003199Decreased muscle mass0GFPT1 CL E G H26734241OMIM:608931Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency.128
HP:0003199HP:0003199Decreased muscle mass0GRB10 CL E G H28874564ORPHA:96182Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7HP:0040283 - Occasional
HP:0003199HP:0003199Decreased muscle mass0GYG1 CL E G H29924699ORPHA:263297Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiencyHP:0040282 - Frequent18
HP:0003199HP:0003199Decreased muscle mass0HERC2 CL E G H89244868OMIM:176270Prader-Willi syndrome38
HP:0003199HP:0003199Decreased muscle mass0HFE CL E G H30774886ORPHA:465508Symptomatic form of hemochromatosis type 1HP:0040282 - Frequent38
HP:0003199HP:0003199Decreased muscle mass0HSD17B4 CL E G H32955213OMIM:261515D-bifunctional protein deficiency.98
HP:0003199HP:0003199Decreased muscle mass0IPW CL E G H36536109OMIM:176270Prader-Willi syndrome
HP:0003199HP:0003199Decreased muscle mass0LETM1 CL E G H39546556OMIM:194190Wolf-Hirschhorn syndrome2
HP:0003199HP:0003199Decreased muscle mass0LIG3 CL E G H39806600ORPHA:298Mitochondrial neurogastrointestinal encephalomyopathyHP:0040283 - Occasional1
HP:0003199HP:0003199Decreased muscle mass0LMX1B CL E G H40106654ORPHA:2614Nail-patella syndromeHP:0040282 - Frequent165
HP:0003199HP:0003199Decreased muscle mass0MAGEL2 CL E G H545516814OMIM:176270Prader-Willi syndrome63
HP:0003199HP:0003199Decreased muscle mass0MAP3K7 CL E G H68856859OMIM:617137Frontometaphyseal dysplasia 2HP:0040283 - Occasional11
HP:0003199HP:0003199Decreased muscle mass0MKRN3 CL E G H76817114OMIM:176270Prader-Willi syndrome5
HP:0003199HP:0003199Decreased muscle mass0MKRN3-AS1 CL E G H10108OMIM:176270Prader-Willi syndrome
HP:0003199HP:0003199Decreased muscle mass0NPAP1 CL E G H237421190OMIM:176270Prader-Willi syndrome1
HP:0003199HP:0003199Decreased muscle mass0NSD2 CL E G H746812766OMIM:194190Wolf-Hirschhorn syndrome118
HP:0003199HP:0003199Decreased muscle mass0PANK2 CL E G H8002515894OMIM:234200Neurodegeneration with brain iron accumulation 1.55
HP:0003199HP:0003199Decreased muscle mass0PIEZO2 CL E G H6389526270OMIM:114300Arthrogryposis, distal, type 3.77
HP:0003199HP:0003199Decreased muscle mass0PIEZO2 CL E G H6389526270OMIM:108145Arthrogryposis, distal, type 5.77
HP:0003199HP:0003199Decreased muscle mass0PIEZO2 CL E G H6389526270ORPHA:376Gordon syndromeHP:0040282 - Frequent77
HP:0003199HP:0003199Decreased muscle mass0PIEZO2 CL E G H6389526270OMIM:248700Marden-Walker syndrome.77
HP:0003199HP:0003199Decreased muscle mass0PLOD1 CL E G H53519081ORPHA:1900Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiencyHP:0040283 - Occasional105
HP:0003199HP:0003199Decreased muscle mass0POLG CL E G H54289179ORPHA:298Mitochondrial neurogastrointestinal encephalomyopathyHP:0040283 - Occasional464
HP:0003199HP:0003199Decreased muscle mass0PTEN CL E G H57289588ORPHA:744Proteus syndromeHP:0040281 - Very frequent948
HP:0003199HP:0003199Decreased muscle mass0PWAR1 CL E G H14562430089OMIM:176270Prader-Willi syndrome
HP:0003199HP:0003199Decreased muscle mass0PWRN1 CL E G H79111433235OMIM:176270Prader-Willi syndrome
HP:0003199HP:0003199Decreased muscle mass0PYCR1 CL E G H58319721OMIM:612940Cutis laxa, autosomal recessive, type IIB53
HP:0003199HP:0003199Decreased muscle mass0RAB18 CL E G H2293114244OMIM:614222Warburg micro syndrome 3.85
HP:0003199HP:0003199Decreased muscle mass0RRM2B CL E G H5048417296ORPHA:298Mitochondrial neurogastrointestinal encephalomyopathyHP:0040283 - Occasional125
HP:0003199HP:0003199Decreased muscle mass0RUSC2 CL E G H985323625OMIM:617773Mental retardation, autosomal recessive 61.
HP:0003199HP:0003199Decreased muscle mass0SLC9A6 CL E G H1047911079ORPHA:85278Christianson syndromeHP:0040283 - Occasional93
HP:0003199HP:0003199Decreased muscle mass0SMS CL E G H661111123OMIM:309583Mental retardation, X-linked, syndromic, Snyder-Robinson type.19
HP:0003199HP:0003199Decreased muscle mass0SMS CL E G H661111123ORPHA:3063X-linked intellectual disability, Snyder typeHP:0040282 - Frequent19
HP:0003199HP:0003199Decreased muscle mass0SNORD115-1 CL E G H33843333020OMIM:176270Prader-Willi syndrome
HP:0003199HP:0003199Decreased muscle mass0SNORD116-1 CL E G H10003341333067OMIM:176270Prader-Willi syndrome
HP:0003199HP:0003199Decreased muscle mass0SPARC CL E G H667811219OMIM:616507Osteogenesis imperfecta, type XVII.2
HP:0003199HP:0003199Decreased muscle mass0STRADA CL E G H9233530172ORPHA:500533Polyhydramnios-megalencephaly-symptomatic epilepsy syndromeHP:0040283 - Occasional6
HP:0003199HP:0003199Decreased muscle mass0TBC1D20 CL E G H12863716133OMIM:615663Warburg micro syndrome 415
HP:0003199HP:0003199Decreased muscle mass0TGFB3 CL E G H704311769OMIM:615582LOEYS-DIETZ SYNDROME 5; LDS585
HP:0003199HP:0003199Decreased muscle mass0TRIM2 CL E G H2332115974OMIM:615490Charcot-Marie-Tooth disease, axonal, type 2R.3
HP:0003199HP:0003199Decreased muscle mass0TYMP CL E G H18903148ORPHA:298Mitochondrial neurogastrointestinal encephalomyopathyHP:0040283 - Occasional138
HP:0003199HP:0003199Decreased muscle mass0VANGL1 CL E G H8183915512ORPHA:3027Caudal regression sequenceHP:0040281 - Very frequent111


Genes (60) :AKT1 ALDOA AP4E1 ATP6V0A2 ATP6V1A ATP6V1E1 BMP6 CHRNE CHST14 COL12A1 COLQ CPLX1 CTBP1 DSE ECEL1 FARSA FBN1 FGFRL1 FSHB FUCA1 FUZ G6PC1 GFPT1 GRB10 GYG1 HERC2 HFE HSD17B4 IPW LETM1 LIG3 LMX1B MAGEL2 MAP3K7 MKRN3 MKRN3-AS1 NPAP1 NSD2 PANK2 PIEZO2 PLOD1 POLG PTEN PWAR1 PWRN1 PYCR1 RAB18 RRM2B RUSC2 SLC9A6 SMS SNORD115-1 SNORD116-1 SPARC STRADA TBC1D20 TGFB3 TRIM2 TYMP VANGL1

Diseases (42) :ORPHA:744 ORPHA:57 OMIM:613744 ORPHA:357074 ORPHA:2834 ORPHA:465508 OMIM:608931 ORPHA:2953 ORPHA:536516 OMIM:603034 OMIM:194190 OMIM:615065 OMIM:619013 OMIM:154700 OMIM:229070 ORPHA:349 ORPHA:3027 OMIM:232200 ORPHA:96182 ORPHA:263297 OMIM:176270 OMIM:261515 ORPHA:298 ORPHA:2614 OMIM:617137 OMIM:234200 OMIM:114300 OMIM:108145 ORPHA:376 OMIM:248700 ORPHA:1900 OMIM:612940 OMIM:614222 OMIM:617773 ORPHA:85278 OMIM:309583 ORPHA:3063 OMIM:616507 ORPHA:500533 OMIM:615663 OMIM:615582 OMIM:615490
 

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