Human Phenotype Ontology 
Grandparent Node:
expandAbnormal muscle fiber morphology (HP:0004303)help
Parent Node:
expandMuscle fiber atrophy (HP:0100295)help
..Starting node
..expandType 2 muscle fiber atrophy (HP:0003554)help
Term ID: 3554
Name: Type 2 muscle fiber atrophy
Synonym: Type 2 fiber atrophy; Type 2 fibre atrophy; Type 2 muscle fibre atrophy
Definition: Atrophy (wasting) affecting primary type 2 muscle fibers. This feature in general can only be observed on muscle biopsy.
Comments:
Reference: HP:0003554
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandType 1 muscle fiber atrophy (HP:0011807) 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:0003554HP:0003554Type 2 muscle fiber atrophy0ALG14 CL E G H19985728287OMIM:619036MYOPATHY, EPILEPSY, AND PROGRESSIVE CEREBRAL ATROPHY; MEPCA12
HP:0003554HP:0003554Type 2 muscle fiber atrophy0CASQ1 CL E G H8441512ORPHA:2593Tubular aggregate myopathyHP:0040283 - Occasional5
HP:0003554HP:0003554Type 2 muscle fiber atrophy0CHAT CL E G H11031912OMIM:254210Myasthenic syndrome, congenital, 6, presynaptic.65
HP:0003554HP:0003554Type 2 muscle fiber atrophy0CHRNA1 CL E G H11341955OMIM:601462Myasthenic syndrome, congenital, 1A, slow-channel.74
HP:0003554HP:0003554Type 2 muscle fiber atrophy0CHRNA1 CL E G H11341955OMIM:608930Myasthenic syndrome, congenital, 1B, fast-channel.74
HP:0003554HP:0003554Type 2 muscle fiber atrophy0CHRNE CL E G H11451966OMIM:605809Myasthenic syndrome, congenital, 4A, slow-channel.139
HP:0003554HP:0003554Type 2 muscle fiber atrophy0CHRNE CL E G H11451966OMIM:608931Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency.139
HP:0003554HP:0003554Type 2 muscle fiber atrophy0CNBP CL E G H755513164OMIM:602668Dystrophia myotonica 2.1
HP:0003554HP:0003554Type 2 muscle fiber atrophy0COLQ CL E G H82922226OMIM:603034Myasthenic syndrome, congenital, 5.90
HP:0003554HP:0003554Type 2 muscle fiber atrophy0COLQ CL E G H82922226ORPHA:98915Synaptic congenital myasthenic syndromesHP:0040284 - Very rare90
HP:0003554HP:0003554Type 2 muscle fiber atrophy0COX1 CL E G H45127419ORPHA:99845Genetic recurrent myoglobinuria
HP:0003554HP:0003554Type 2 muscle fiber atrophy0COX3 CL E G H45147422ORPHA:99845Genetic recurrent myoglobinuria
HP:0003554HP:0003554Type 2 muscle fiber atrophy0GFPT1 CL E G H26734241OMIM:608931Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency.128
HP:0003554HP:0003554Type 2 muscle fiber atrophy0LAMB2 CL E G H39136487ORPHA:98915Synaptic congenital myasthenic syndromesHP:0040284 - Very rare92
HP:0003554HP:0003554Type 2 muscle fiber atrophy0LPIN1 CL E G H2317513345ORPHA:99845Genetic recurrent myoglobinuria95
HP:0003554HP:0003554Type 2 muscle fiber atrophy0ORAI1 CL E G H8487625896ORPHA:2593Tubular aggregate myopathyHP:0040283 - Occasional19
HP:0003554HP:0003554Type 2 muscle fiber atrophy0PNPT1 CL E G H8717823166ORPHA:319514Combined oxidative phosphorylation defect type 13HP:0040283 - Occasional60
HP:0003554HP:0003554Type 2 muscle fiber atrophy0SARS2 CL E G H5493817697OMIM:613845Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis syndrome.60
HP:0003554HP:0003554Type 2 muscle fiber atrophy0SPTBN4 CL E G H5773114896OMIM:617519Neurodevelopmental disorder with hypotonia, neuropathy, and deafness3
HP:0003554HP:0003554Type 2 muscle fiber atrophy0STIM1 CL E G H678611386OMIM:160565Myopathy, tubular aggregate, 1.31
HP:0003554HP:0003554Type 2 muscle fiber atrophy0STIM1 CL E G H678611386ORPHA:2593Tubular aggregate myopathyHP:0040283 - Occasional31


Genes (17) :ALG14 CASQ1 CHAT CHRNA1 CHRNE CNBP COLQ COX1 COX3 GFPT1 LAMB2 LPIN1 ORAI1 PNPT1 SARS2 SPTBN4 STIM1

Diseases (15) :OMIM:619036 ORPHA:2593 OMIM:254210 OMIM:601462 OMIM:608930 OMIM:605809 OMIM:608931 OMIM:602668 OMIM:603034 ORPHA:98915 ORPHA:99845 ORPHA:319514 OMIM:613845 OMIM:617519 OMIM:160565
 

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