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Peroxisomal Disorders
Peroxisomal disorders represent a class of medical conditions caused by defects in peroxisome functions. This may be due to defects in single enzymes important for peroxisome function or in peroxins, proteins encoded by ''PEX'' genes that are critical for normal peroxisome assembly and biogenesis. Peroxisome biogenesis disorders Peroxisome biogenesis disorders (PBDs) include the Zellweger syndrome spectrum (PBD-ZSD) and rhizomelic chondrodysplasia punctata type 1 (RCDP1). PBD-ZSD represents a continuum of disorders including infantile Refsum disease, neonatal adrenoleukodystrophy, and Zellweger syndrome. Collectively, PBDs are autosomal recessive developmental brain disorders that also result in skeletal and craniofacial dysmorphism, liver dysfunction, progressive sensorineural hearing loss, and retinopathy. PBD-ZSD is most commonly caused by mutations in the ''PEX1'', ''PEX6'', ''PEX10'', ''PEX12'', and ''PEX26'' genes. This results in the over-accumulation of very long chain fatt ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Medical Genetics
Medical genetics is the branch tics in that human genetics is a field of scientific research that may or may not apply to medicine, while medical genetics refers to the application of genetics to medical care. For example, research on the causes and inheritance of genetic disorders would be considered within both human genetics and medical genetics, while the diagnosis, management, and counselling people with genetic disorders would be considered part of medical genetics. In contrast, the study of typically non-medical phenotypes such as the genetics of eye color would be considered part of human genetics, but not necessarily relevant to medical genetics (except in situations such as albinism). ''Genetic medicine'' is a newer term for medical genetics and incorporates areas such as gene therapy, personalized medicine, and the rapidly emerging new medical specialty, predictive medicine. Scope Medical genetics encompasses many different areas, including clinical practice of ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
PEX6
Peroxisome assembly factor 2 is a protein that in humans is encoded by the ''PEX6'' gene. PEX6 is an AAA ATPase that localizes to the peroxisome. PEX6 forms a hexamer with PEX1 and is recruited to the membrane by PEX26. Function From yeast to plants to humans, there is only one verified function of PEX6; PEX6 (and PEX1) removes PEX5 from the peroxisomal membrane so that PEX5 may do additional rounds of peroxisomal import. Human PEX6 can genetically complement plant ''pex6'' mutants, which highlights functional conservation. Work with ''pex6'' mutants in '' Arabidopsis thaliana'' has shown that PEX6 may have a role in consuming oil body (plant-specific lipid droplets). Work with yeast ''pex6'' mutants has shown that PEX6 is a key player in the autophagy of peroxisomes called pexophagy. Related diseases Mutations in the genes encoding PEX6, along with PEX1, are the leading causes of peroxisomal biogenesis disorders, such as Zellweger Syndrome spectrum, infantile Refsum dise ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
PHYH
In enzymology, a phytanoyl-CoA dioxygenase () is an enzyme that catalyzes the chemical reaction :phytanoyl-CoA + 2-oxoglutarate + O2 \rightleftharpoons 2-hydroxyphytanoyl-CoA + succinate + CO2 The three substrates of this enzyme are phytanoyl-CoA, 2-oxoglutarate (2OG), and O2, whereas its three products are 2-hydroxyphytanoyl-CoA, succinate, and CO2. This enzyme belongs to the family of iron(II)-dependent oxygenases, which typically incorporate one atom of dioxygen into the substrate and one atom into the succinate carboxylate group. The mechanism is complex, but is believed to involve ordered binding of 2-oxoglutarate to the iron(II) containing enzyme followed by substrate. Binding of substrate causes displacement of a water molecule from the iron(II) cofactor, leaving a vacant coordination position to which dioxygen binds. A rearrangement occurs to form a high energy iron-oxygen species (which is generally thought to be an iron(IV)=O species) that performs the actua ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Pipecolic Acidemia
Pipecolic acidemia is a very rare autosomal recessive metabolic disorder that is caused by a peroxisomal defect. Pipecolic acidemia can also be an associated component of Refsum disease with increased pipecolic acidemia (RDPA), as well as other peroxisomal disorders, including both infantile and adult Refsum disease, and Zellweger syndrome. The disorder is characterized by an increase in pipecolic acid levels in the blood, leading to neuropathy and hepatomegaly. See also * AASDHPPT * PHYH In enzymology, a phytanoyl-CoA dioxygenase () is an enzyme that catalyzes the chemical reaction :phytanoyl-CoA + 2-oxoglutarate + O2 \rightleftharpoons 2-hydroxyphytanoyl-CoA + succinate + CO2 The three substrates of this enzyme are phyta ... References External links Amino acid metabolism disorders Autosomal recessive disorders Rare diseases {{genetic-disorder-stub ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
ICD-10 NA
ICD-10 is the 10th revision of the International Statistical Classification of Diseases and Related Health Problems (ICD), a medical classification list by the World Health Organization (WHO). It contains codes for diseases, signs and symptoms, abnormal findings, complaints, social circumstances, and external causes of injury or diseases. Work on ICD-10 began in 1983, became endorsed by the Forty-third World Health Assembly in 1990, and was first used by member states in 1994. It was replaced by ICD-11 on January 1, 2022. While WHO manages and publishes the base version of the ICD, several member states have modified it to better suit their needs. In the base classification, the code set allows for more than 14,000 different codes and permits the tracking of many new diagnoses compared to the preceding ICD-9. Through the use of optional sub-classifications, ICD-10 allows for specificity regarding the cause, manifestation, location, severity, and type of injury or disease. The ad ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Heimler Syndrome
Heimler syndrome is a rare autosomal recessive condition characterized by sensorineural hearing loss, amelogenesis imperfecta, nail abnormalities and occasional or late-onset retinal pigmentation Signs/symptoms This condition is characterised by sensorineural hearing loss, enamel hypoplasia of the secondary dentition, nail abnormalities and occasional or late-onset retinal pigmentation abnormalities. Genetics This condition is caused by mutations in peroxisomal biogenesis factor 1 (PEX1) or peroxisomal biogenesis factor 6 (PEX6) genes.Ratbi I, Falkenberg KD, Sommen M, Al-Sheqaih N, Guaoua S, Vandeweyer G, Urquhart JE, Chandler KE, Williams SG, Roberts NA, El Alloussi M, Black GC, Ferdinandusse S, Ramdi H, Heimler A, Fryer A, Lynch SA, Cooper N, Ong KR, Smith CE, Inglehearn CF, Mighell AJ, Elcock C, Poulter JA, Tischkowitz M, Davies SJ, Sefiani A, Mironov AA, Newman WG, Waterham HR, Van Camp G (2015) Heimler syndrome is caused by hypomorphic mutations in the peroxisome-biogenes ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
PEX7
Peroxin-7 is a receptor associated with Refsum's disease and rhizomelic chondrodysplasia punctata type 1. See also * Peroxin Peroxins (or peroxisomal/peroxisome biogenesis factors) represent several protein families found in peroxisomes. Deficiencies are associated with several peroxisomal disorders. Peroxins serve several functions including the recognition of ... External links GeneReviews/NCBI/NIH/UW entry on Refsum Disease GeneReviews/NIH/NCBI/UW entry on Rhizomelic Chondrodysplasia Punctata Type 1 * {{biochem-stub ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Rhizomelic Chondrodysplasia Punctata
Rhizomelic chondrodysplasia punctata is a rare developmental brain disorder characterized by systemic shortening of the proximal bones (i.e. rhizomelia), seizures, recurrent respiratory tract infections and congenital cataracts. The affected individuals have low levels of plasmalogens. Signs and symptoms Rhizomelic chondrodysplasia punctata has the following symptoms: * Bilateral shortening of the femur * Post-natal growth problems (deficiency) * Cataracts * Intellectual disability * Possible seizures * Possible infections of respiratory tract Genetics This condition is a consequence of mutations in the PEX7 gene, the GNPAT gene (which is located on chromosome 1) or the AGPS gene. The condition is acquired in an autosomal recessive manner. Pathophysiology The mechanism of rhizomelic chondrodysplasia punctata in the case of ''type 1'' of this condition one finds that peroxisome objective is PEX7, in peroxisome assembly. There are 3 pathways that ''count on'' PEX7 and are: :::: ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
PEX13
Peroxisomal membrane protein PEX13 is a protein that in humans is encoded by the ''PEX13'' gene. It located on chromosome 2 next to KIAA1841 Interactions PEX13 has been shown to interact with PEX14, PEX5 and PEX19 Peroxisomal biogenesis factor 19 is a protein that in humans is encoded by the ''PEX19'' gene. Interactions PEX19 has been shown to Protein-protein interaction, interact with: * ABCD1, * ABCD2, * ABCD3, * PEX10, * PEX11B, * PEX12, * PEX .... References Further reading * * * * * * * * * * * * * * * External links GeneReviews/NCBI/NIH/UW entry on Peroxisome Biogenesis Disorders, Zellweger Syndrome SpectrumOMIM entries on Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum {{gene-2-stub ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
PEX10
Peroxisome biogenesis factor 10 is a protein that in humans is encoded by the ''PEX10'' gene. Alternative splicing results in two transcript variants encoding different isoforms. Function Peroxisome biogenesis factor 10 is involved in import of peroxisomal matrix proteins. This protein localizes to the peroxisomal membrane. Clinical significance Mutations in this gene result in phenotypes within the Zellweger spectrum of peroxisomal biogenesis disorders, ranging from neonatal adrenoleukodystrophy to Zellweger syndrome. Interactions PEX10 has been shown to interact with PEX12 and PEX19 Peroxisomal biogenesis factor 19 is a protein that in humans is encoded by the ''PEX19'' gene. Interactions PEX19 has been shown to Protein-protein interaction, interact with: * ABCD1, * ABCD2, * ABCD3, * PEX10, * PEX11B, * PEX12, * PEX .... References Further reading * * * * * * * * * * * * * * External links GeneReviews/NCBI/NIH/UW entry on Peroxisome Biogenesis Disord ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Neonatal Adrenoleukodystrophy
Neonatal adrenoleukodystrophy is an inborn error of peroxisome biogenesis. It is part of the Zellweger spectrum. It has been linked with multiple genes (at least five) associated with peroxisome biogenesis, and has an autosomal recessive In genetics, dominance is the phenomenon of one variant (allele) of a gene on a chromosome masking or overriding the effect of a different variant of the same gene on the other copy of the chromosome. The first variant is termed dominant and t ... pattern of inheritance. References External links {{Peroxisomal disorders Leukodystrophies Peroxisomal disorders Neonatology ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Infantile Refsum Disease
Infantile Refsum disease (IRD) is a rare autosomal recessive congenital peroxisomal biogenesis disorder within the Zellweger spectrum. These are disorders of the peroxisomes that are clinically similar to Zellweger syndrome and associated with mutations in the ''PEX'' family of genes. IRD is associated with deficient phytanic acid catabolism, as is adult Refsum disease, but they are different disorders that should not be confused. Presentation Infantile Refsum disease is one of three peroxisome biogenesis disorders which belong to the Zellweger spectrum of peroxisome biogenesis disorders (PBD-ZSD). The other two disorders are Zellweger syndrome (ZS) and neonatal adrenoleukodystrophy (NALD). Although they share a similar molecular basis for disease, Infantile Refsum disease is less severe than Zellweger syndrome. Infantile Refsum disease is a developmental brain disorder. In addition, patients can show a reduction in central nervous system (CNS) myelin (particularly cerebral), ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
