Human Phenotype Ontology 
Grandparent Node:
expand
Lipid accumulation in hepatocytes (HP:0006561)help
Parent Node:
expand
Hepatic steatosis (HP:0001397)help
..Starting node
..expand
Microvesicular hepatic steatosis (HP:0001414)help
Term ID: 1414
Name: Microvesicular hepatic steatosis
Synonym: Microvesicular steatosis
Definition: A form of hepatic steatosis characterized by the presence of small, lipid-laden vesicles in the affected hepatocytes.
Comments:
Reference: HP:0001414
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandAcute hepatic steatosis (HP:0006573) help
..expandDiffuse hepatic steatosis (HP:0006555) help
..expandMacrovesicular hepatic steatosis (HP:0001403) 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:0001414HP:0001414Microvesicular hepatic steatosis0ACAD9 CL E G H2897621497OMIM:611126Mitochondrial complex I deficiency due to acad9 deficiency.98
HP:0001414HP:0001414Microvesicular hepatic steatosis0BCS1L CL E G H6171020OMIM:124000Mitochondrial complex III deficiency, nuclear type 1.72
HP:0001414HP:0001414Microvesicular hepatic steatosis0CARS2 CL E G H7958725695OMIM:616672Combined oxidative phosphorylation deficiency 27.35
HP:0001414HP:0001414Microvesicular hepatic steatosis0DNAJC19 CL E G H13111830528OMIM:6101983-@methylglutaconic aciduria, type V.25
HP:0001414HP:0001414Microvesicular hepatic steatosis0DNAJC19 CL E G H13111830528ORPHA:66634Dilated cardiomyopathy with ataxiaHP:0040283 - Occasional25
HP:0001414HP:0001414Microvesicular hepatic steatosis0LRPPRC CL E G H1012815714OMIM:220111Leigh syndrome, french Canadian type.191
HP:0001414HP:0001414Microvesicular hepatic steatosis0LYRM4 CL E G H5712821365OMIM:615595Combined oxidative phosphorylation deficiency 194
HP:0001414HP:0001414Microvesicular hepatic steatosis0MPV17 CL E G H43587224OMIM:256810Navajo neurohepatopathy.56
HP:0001414HP:0001414Microvesicular hepatic steatosis0MRPL44 CL E G H6508016650OMIM:615395Combined oxidative phosphorylation deficiency 16.13
HP:0001414HP:0001414Microvesicular hepatic steatosis0NAA10 CL E G H826018704OMIM:300855Ogden syndrome23
HP:0001414HP:0001414Microvesicular hepatic steatosis0NGLY1 CL E G H5576817646ORPHA:404454Alacrimia-choreoathetosis-liver dysfunction syndromeHP:0040283 - Occasional32
HP:0001414HP:0001414Microvesicular hepatic steatosis0NHLRC2 CL E G H37435424731OMIM:618278Fibrosis, neurodegeneration, and cerebral angiomatosis
HP:0001414HP:0001414Microvesicular hepatic steatosis0PIGA CL E G H52778957OMIM:300868Multiple congenital anomalies-hypotonia-seizures syndrome 246
HP:0001414HP:0001414Microvesicular hepatic steatosis0POLG CL E G H54289179OMIM:203700Mitochondrial DNA depletion syndrome 4A (Alpers type).464
HP:0001414HP:0001414Microvesicular hepatic steatosis0SLC22A5 CL E G H658410969OMIM:212140Carnitine deficiency, systemic primary207
HP:0001414HP:0001414Microvesicular hepatic steatosis0TFAM CL E G H701911741OMIM:617156Mitochondrial DNA depletion syndrome 15 (hepatocerebral type).1
HP:0001414HP:0001414Microvesicular hepatic steatosis0TRMU CL E G H5568725481OMIM:613070Liver failure, infantile, transient.101
HP:0001414HP:0001414Microvesicular hepatic steatosis0UNC45A CL E G H5589830594OMIM:619377OSTEOOTOHEPATOENTERIC SYNDROME; OOHE
HP:0001414HP:0001414Microvesicular hepatic steatosis0VPS4A CL E G H2718313488OMIM:619273CIMDAG SYNDROME; CIMDAG1
HP:0001414HP:0001414Microvesicular hepatic steatosis0YARS1 CL E G H856512840OMIM:619418NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET 2; IMNEPD2


Genes (19) :ACAD9 BCS1L CARS2 DNAJC19 LRPPRC LYRM4 MPV17 MRPL44 NAA10 NGLY1 NHLRC2 PIGA POLG SLC22A5 TFAM TRMU UNC45A VPS4A YARS1

Diseases (20) :OMIM:611126 OMIM:124000 OMIM:616672 OMIM:610198 ORPHA:66634 OMIM:220111 OMIM:615595 OMIM:256810 OMIM:615395 OMIM:300855 ORPHA:404454 OMIM:618278 OMIM:300868 OMIM:203700 OMIM:212140 OMIM:617156 OMIM:613070 OMIM:619377 OMIM:619273 OMIM:619418
 

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