Human Phenotype Ontology 
Grandparent Node:
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Abnormal morphology of myocardial trabeculae (HP:0030681)help
Parent Node:
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Abnormal morphology of left ventricular trabeculae (HP:0031192)help
..Starting node
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Left ventricular noncompaction (HP:0030682)help
Term ID: 30682
Name: Left ventricular noncompaction
Synonym:
Definition: Left ventricular noncompaction (LVNC) is defined by 3 markers: prominent left ventricular (LV) trabeculae, deep intertrabecular recesses, and the thin compacted layer.
Comments:
Reference: HP:0030682
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandApical hypertrabeculation of the left ventricle (HP:0031195) help
..expandIncreased density of left ventricular trabeculae (HP:0031194) help
..expandThin myocardium compact layer (HP:0031196) 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:0030682HP:0030682Left ventricular noncompaction0ACTC1 CL E G H70143OMIM:613424Cardiomyopathy, dilated, 1RHP:0040283 - Occasional208
HP:0030682HP:0030682Left ventricular noncompaction0ACTN2 CL E G H88164OMIM:612158Cardiomyopathy, dilated, 1aa, with or without left ventricular noncompactionHP:0040283 - Occasional307
HP:0030682HP:0030682Left ventricular noncompaction0CALM2 CL E G H8051445OMIM:616249Long QT syndrome 1513
HP:0030682HP:0030682Left ventricular noncompaction0COA6 CL E G H38875318025OMIM:616501CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME c OXIDASE DEFICIENCY 4; CEMCOX48
HP:0030682HP:0030682Left ventricular noncompaction0DTNA CL E G H18373057OMIM:604169Left ventricular noncompaction 1.163
HP:0030682HP:0030682Left ventricular noncompaction0HCN4 CL E G H1002116882OMIM:163800Sick sinus syndrome 2HP:0040283 - Occasional185
HP:0030682HP:0030682Left ventricular noncompaction0LDB3 CL E G H1115515710OMIM:601493Cardiomyopathy, dilated, 1C, with or without left ventricular noncompactionHP:0040283 - Occasional286
HP:0030682HP:0030682Left ventricular noncompaction0MIB1 CL E G H5753421086OMIM:615092Left ventricular noncompaction 7.28
HP:0030682HP:0030682Left ventricular noncompaction0MIPEP CL E G H42857104OMIM:617228Combined oxidative phosphorylation deficiency 31.7
HP:0030682HP:0030682Left ventricular noncompaction0MYBPC3 CL E G H46077551OMIM:615396Left ventricular noncompaction 10.1143
HP:0030682HP:0030682Left ventricular noncompaction0MYH7 CL E G H46257577OMIM:613426Cardiomyopathy, dilated, 1SHP:0040283 - Occasional1269
HP:0030682HP:0030682Left ventricular noncompaction0NONO CL E G H48417871OMIM:300967MENTAL RETARDATION, X-LINKED, SYNDROMIC 34; MRXS3410
HP:0030682HP:0030682Left ventricular noncompaction0NPPA CL E G H48787939ORPHA:1344Atrial standstillHP:0040282 - Frequent13
HP:0030682HP:0030682Left ventricular noncompaction0PRDM16 CL E G H6397614000OMIM:615373Left ventricular noncompaction 8.148
HP:0030682HP:0030682Left ventricular noncompaction0SCN5A CL E G H633110593ORPHA:1344Atrial standstillHP:0040282 - Frequent1134
HP:0030682HP:0030682Left ventricular noncompaction0SDHA CL E G H638910680OMIM:613642Cardiomyopathy, dilated, 1gg304
HP:0030682HP:0030682Left ventricular noncompaction0SDHA CL E G H638910680OMIM:252011Mitochondrial complex II deficiency.304
HP:0030682HP:0030682Left ventricular noncompaction0SDHD CL E G H639210683OMIM:619167MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 3; MC2DN3129
HP:0030682HP:0030682Left ventricular noncompaction0TNNT2 CL E G H713911949OMIM:601494Cardiomyopathy, dilated, 1DHP:0040283 - Occasional248
HP:0030682HP:0030682Left ventricular noncompaction0VARS2 CL E G H5717621642OMIM:615917Combined oxidative phosphorylation deficiency 2056


Genes (19) :ACTC1 ACTN2 CALM2 COA6 DTNA HCN4 LDB3 MIB1 MIPEP MYBPC3 MYH7 NONO NPPA PRDM16 SCN5A SDHA SDHD TNNT2 VARS2

Diseases (19) :OMIM:613424 OMIM:612158 OMIM:616249 OMIM:616501 OMIM:604169 OMIM:163800 OMIM:601493 OMIM:615092 OMIM:617228 OMIM:615396 OMIM:613426 OMIM:300967 ORPHA:1344 OMIM:615373 OMIM:613642 OMIM:252011 OMIM:619167 OMIM:601494 OMIM:615917
 

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