Human Phenotype Ontology 
Grandparent Node:
expandAbnormal muscle fiber morphology (HP:0004303)help
Parent Node:
expandAbnormal muscle fiber protein expression (HP:0030089)help
..Starting node
..expandAbnormal muscle fiber lamin A/C (HP:0030123)help
Term ID: 30123
Name: Abnormal muscle fiber lamin A/C
Synonym: Abnormal muscle fibre lamin A/C
Definition: A deviation from the normal amount of lamin A/C in muscle tissue. The LMNA gene gives rise to at least three splicing isoforms including the two main isoforms, lamin A and lamin C. These are constitutive components of the fibrous nuclear lamina and have different roles, ranging from mechanical nuclear membrane maintenance to gene regulation.
Comments:
Reference: HP:0030123
Genes and Diseases:
 
       Child Nodes:
........expandReduced muscle fiber lamin A/C (HP:0030124) help

 Sister Nodes: 
..expandAbnormal muscle fiber alpha dystroglycan (HP:0030112) help
..expandAbnormal muscle fiber alpha sarcoglycan (HP:0030100) help
..expandAbnormal muscle fiber beta sarcoglycan (HP:0030103) help
..expandAbnormal muscle fiber calpain-3 (HP:0030119) help
..expandAbnormal muscle fiber delta sarcoglycan (HP:0030105) help
..expandAbnormal muscle fiber desmin (HP:0030224) help
..expandAbnormal muscle fiber dysferlin (HP:0030113) help
..expandAbnormal muscle fiber dystrophin expression (HP:0030096) help
..expandAbnormal muscle fiber emerin (HP:0030116) help
..expandAbnormal muscle fiber gamma sarcoglycan (HP:0030104) help
..expandAbnormal muscle fiber laminin beta 1 (HP:0030093) help
..expandAbnormal muscle fiber merosin expression (HP:0030090) help
..expandAbnormal muscle fiber myotilin (HP:0030226) help
..expandAbnormal muscle fiber valosin-containing protein (HP:0030228) help
..expandReduced muscle collagen VI (HP:0030095) help
..expandReduced muscle fiber perlecan (HP:0030122) 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:0030123HP:0030123Abnormal muscle fiber lamin A/C0 CL E G H
HP:0030123HP:0030124Reduced muscle fiber lamin A/C1 CL E G H


Genes (0) :

Diseases (0) :
 

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