Disease Info Card

Infantile Refsum Disease (disorder)

Information about Infantile Refsum Disease (disorder): characteristics, related genes and pathways, plus antibodies you can use for research. This page is being enriched constantly, if you see some information you would like this page to include please send your suggestions to us.

Overview of Infantile Refsum Disease (disorder)

Most recent studies have shown that Infantile Refsum Disease (disorder) shares some biological mechanisms with acidemia, adrenoleukodystrophy, adrenoleukodystrophy-neonatal, chondrodysplasia-punctata, chondrodysplasia-punctata-rhizomelic, diffuse-cerebral-sclerosis-of-schilder, disorders-of-peroxisome-biogenesis, hepatomegaly, hereditary-diseases, hyperpipecolatemia, inborn-errors-of-metabolism, liver-diseases, muscle-hypotonia, peroxisomal-disorders, refsum-disease, retinal-diseases, retinitis-pigmentosa, storage-disease, zellweger-syndrome.

Among the many pathways, these few ones have gauged particular interests from scientists studying Infantile Refsum Disease (disorder), and have been seen in publications frequently: Cell Adhesion, Cell Cycle, Cholesterol Esterification, Excretion, Fatty Acid Beta-oxidation, Fatty Acid Elongation, Fatty Acid Oxidation, Liver Development, Localization, Membrane Biogenesis, Myelination, Organelle Assembly, Pathogenesis, Peroxisome Inheritance, Pigmentation, Protein Import, Protein Transport, Translation, Transport, Urea Cycle

Quite a number of genes have been found to play important roles in Infantile Refsum Disease (disorder), such as AAAS, ABCD1, APP, CAT, EPB41L4B, GNPAT, HSD17B4, MAMLD1, PEX1, PEX10, PEX13, PEX2, PEX6, PEX7, PHEX, PHYH, ZNF260. See what Boster has to offer for the research of these genes by clicking the gene name links below and view a more detailed info card/product listing for that gene.

In a later update, we will include information such as current drugs and therapy solutions as well as on-going and past clinical trials for this disease. Plesae stay updated.

Infantile Refsum Disease (disorder) Related Genes

click to see detail information for each gene

AAAS ABCD1 APP
CAT EPB41L4B GNPAT
HSD17B4 MAMLD1 PEX1
PEX10 PEX13 PEX2
PEX6 PEX7 PHEX
PHYH ZNF260