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Disease Info Card
Chondrodysplasia Punctata, Rhizomelic
Information about Chondrodysplasia Punctata, Rhizomelic: 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 Chondrodysplasia Punctata, Rhizomelic
Most recent studies have shown that Chondrodysplasia Punctata, Rhizomelic shares some biological mechanisms with acidemia, adrenoleukodystrophy, adrenoleukodystrophy-neonatal, adrenomyeloneuropathy, chondrodysplasia-punctata, disorders-of-peroxisome-biogenesis, dysplasia, hereditary-diseases, hyperoxaluria, hyperpipecolatemia, inborn-errors-of-metabolism, infantile-refsum-disease-(disorder), nervousness, peroxisomal-disorders, refsum-disease, skeletal-dysplasia, zellweger-syndrome.
Among the many pathways, these few ones have gauged particular interests from scientists studying Chondrodysplasia Punctata, Rhizomelic, and have been seen in publications frequently: Brain Development, Cholesterol Efflux, Endochondral Ossification, Excretion, Fatty Acid Beta-oxidation, Fatty Acid Oxidation, Keratinization, Lactate Oxidation, Localization, Myelination, Ossification, Oxidative Phosphorylation, Pathogenesis, Protein Import, Protein Targeting, Proteolysis, Reverse Transcription, Spermatogenesis, Transport, Urea Cycle
Quite a number of genes have been found to play important roles in Chondrodysplasia Punctata, Rhizomelic, such as ABCD1, ACAA1, ACOX1, AGPS, CAT, GNPAT, HSD17B4, PEX10, PEX13, PEX2, PEX5, PEX7, PHEX, PHYH, PTS, SCP2. 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.