MCID: PRX034
MIFTS: 22

Peroxisome Disorders malady

Rare diseases, Endocrine diseases categories
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Summaries for Peroxisome Disorders

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Wikipedia:65 Peroxisomal disorders represent a class of medical conditions caused by defects in peroxisome functions.... more...

MalaCards based summary: Peroxisome Disorders, also known as peroxisomal disorders, is related to zellweger syndrome and adrenoleukodystrophy. Affiliated tissues include thyroid, liver and skin.

Aliases & Classifications for Peroxisome Disorders

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Sources:
42NIH Rare Diseases, 10DISEASES, 44Novoseek, 62UMLS
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Peroxisome Disorders, Aliases & Descriptions:

Name: Peroxisome Disorders 42
Peroxisomal Disorders 44 62
Peroxisomal Disease 10 62
Thyroid Hormone Plasma Membrane Transport Defect 62
 
Disorders of Peroxisomal Beta-Oxidation 42
Peroxisomal Diseases 62
Peroxisomal Defects 42
Peroxisome Diseases 42


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Rare diseases
Anatomical: Endocrine diseases


Related Diseases for Peroxisome Disorders

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Graphical network of the top 20 diseases related to Peroxisome Disorders:



Diseases related to peroxisome disorders

Symptoms for Peroxisome Disorders

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Drugs & Therapeutics for Peroxisome Disorders

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Drug clinical trials:

Search ClinicalTrials for Peroxisome Disorders

Search NIH Clinical Center for Peroxisome Disorders

Genetic Tests for Peroxisome Disorders

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Anatomical Context for Peroxisome Disorders

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MalaCards organs/tissues related to Peroxisome Disorders:

32
Thyroid, Liver, Skin

Animal Models for Peroxisome Disorders or affiliated genes

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Publications for Peroxisome Disorders

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Articles related to Peroxisome Disorders:

(show top 50)    (show all 51)
idTitleAuthorsYear
1
Defective lipid remodeling of GPI anchors in peroxisomal disorders, Zellweger syndrome, and rhizomelic chondrodysplasia punctata. (22253471)
2012
2
Phytanic acid and pristanic acid, branched-chain fatty acids associated with Refsum disease and other inherited peroxisomal disorders, mediate intracellular Ca2+ signaling through activation of free fatty acid receptor GPR40. (21570468)
2011
3
Visual follow-up in peroxisomal-disorder patients treated with docosahexaenoic Acid ethyl ester. (19933185)
2010
4
Investigational methods for peroxisomal disorders. (18633975)
2008
5
Peroxisomal disorders affecting phytanic acid alpha-oxidation: a review. (17956237)
2007
6
High incidence of hyperoxaluria in generalized peroxisomal disorders. (16621644)
2006
7
Combined liquid chromatography-tandem mass spectrometry as an analytical method for high throughput screening for X-linked adrenoleukodystrophy and other peroxisomal disorders: preliminary findings. (16828324)
2006
8
Peroxisomal disorders I: biochemistry and genetics of peroxisome biogenesis disorders. (15679822)
2005
9
Mulibrey nanism--a novel peroxisomal disorder. (14713209)
2003
10
The TRIM37 gene encodes a peroxisomal RING-B-box-coiled-coil protein: classification of mulibrey nanism as a new peroxisomal disorder. (11938494)
2002
11
Refsum's disease: a peroxisomal disorder affecting phytanic acid alpha-oxidation. (11948235)
2002
12
Stereochemistry of the peroxisomal branched-chain fatty acid alpha- and beta-oxidation systems in patients suffering from different peroxisomal disorders. (11893780)
2002
13
The neurobiology of X-linked adrenoleukodystrophy, a demyelinating peroxisomal disorder. (10088993)
1999
14
Immunological analyses of alkyl-dihydroxyacetone-phosphate synthase in human peroxisomal disorders. (10384985)
1999
15
X-linked dominant chondrodysplasia punctata: a peroxisomal disorder? (9677071)
1998
16
New insights in peroxisomal beta-oxidation. Implications for human peroxisomal disorders. (9803880)
1998
17
Cholesterol biosynthesis, peroxisomes and peroxisomal disorders: mevalonate kinase is not only deficient in Zellweger syndrome but also in rhizomelic chondrodysplasia punctata. (9686383)
1998
18
Characterization of phytanoyl-Coenzyme A hydroxylase in human liver and activity measurements in patients with peroxisomal disorders. (9565335)
1998
19
Developmental delay and growth failure caused by a peroxisomal disorder, dihydroxyacetonephosphate acyltransferase (DHAP-AT) deficiency. (9843043)
1998
20
Molecular analysis of peroxisomal disorders]. (9545777)
1998
21
Immunological localization and tissue distribution of alkyldihydroxyacetonephosphate synthase and deficiency of the enzyme in peroxisomal disorders. (9266692)
1997
22
D-3-hydroxyacyl-CoA dehydratase/D-3-hydroxyacyl-CoA dehydrogenase bifunctional protein deficiency: a newly identified peroxisomal disorder. (9345094)
1997
23
On the molecular etiology of decreased arachidonic (20:4n-6), docosapentaenoic (22:5n-6) and docosahexaenoic (22:6n-3) acids in Zellweger syndrome and other peroxisomal disorders. (9062899)
1997
24
Peroxisomal disorders: clinical aspects. (8993563)
1996
25
Infantile Refsum disease: neonatal cholestatic jaundice presentation of a peroxisomal disorder. (7533834)
1995
26
Immunolocalization of a 43 kDa peroxisomal membrane protein in the liver of patients with generalized peroxisomal disorders. (8521871)
1995
27
Human peroxisomal targeting signal-1 receptor restores peroxisomal protein import in cells from patients with fatal peroxisomal disorders. (7790377)
1995
28
Rhizomelic chondrodysplasia punctata: report of a case with review of the literature and correlation with other peroxisomal disorders. (8597837)
1995
29
Human alkyldihydroxyacetonephosphate synthase deficiency: a new peroxisomal disorder. (7807941)
1994
30
Peroxisome disorders and cutaneous manifestations. (8305747)
1994
31
A new type of peroxisomal disorder with variable expression in liver and fibroblasts. (7931872)
1994
32
Prenatal diagnosis of peroxisomal disorders. Biochemical and immunocytochemical studies on peroxisomes in human amniocytes. (8059925)
1994
33
Peroxisomal disorders in children: immunohistochemistry and neuropathology. (8463903)
1993
34
Lactic acidosis and mitochondrial dysfunction in two children with peroxisomal disorders. (8105143)
1993
35
Peroxisomal abnormality in fibroblasts from involved skin of CHILD syndrome. Case study and review of peroxisomal disorders in relation to skin disease. (1519936)
1992
36
Infantile refsum disease: gastrointestinal presentation of a peroxisomal disorder. (1374125)
1992
37
Very large peroxisomes in distinct peroxisomal disorders (rhizomelic chondrodysplasia punctata and acyl-CoA oxidase deficiency): novel data. (1750197)
1991
38
Fatty acid composition of human myelin proteolipid protein in peroxisomal disorders. (1704424)
1991
39
Analysis of very long-chain fatty acids and plasmalogen in the erythrocyte membrane: a simple method for the detection of peroxisomal disorders and discrimination between adrenoleukodystrophy and Zellweger syndrome. (2234315)
1990
40
Mitochondrial oxidation of phytanic acid in human and monkey liver: implication that Refsum's disease is not a peroxisomal disorder. (1690986)
1990
41
Pathology of hepatic peroxisomes and mitochondria in patients with peroxisomal disorders. (1689088)
1990
42
Genetic relationship between the Zellweger syndrome and other peroxisomal disorders characterized by an impairment in the assembly of peroxisomes. (2183242)
1990
43
A new peroxisomal disorder with enlarged peroxisomes and a specific deficiency of acyl-CoA oxidase (pseudo-neonatal adrenoleukodystrophy). (2894756)
1988
44
Molecular analysis of peroxisomal beta-oxidation enzymes in infants with Zellweger syndrome and Zellweger-like syndrome: further heterogeneity of the peroxisomal disorder. (2452040)
1988
45
Infantile Refsum disease: an inherited peroxisomal disorder. Comparison with Zellweger syndrome and neonatal adrenoleukodystrophy. (2445576)
1987
46
The cerebro-hepato-renal (Zellweger) syndrome and other peroxisomal disorders. (3319743)
1987
47
Peroxisomal fatty acid beta-oxidation in relation to the accumulation of very long chain fatty acids in cultured skin fibroblasts from patients with Zellweger syndrome and other peroxisomal disorders. (3680527)
1987
48
Peroxisomal very long-chain fatty acid beta-oxidation in human skin fibroblasts: activity in Zellweger syndrome and other peroxisomal disorders. (2441904)
1987
49
Prenatal diagnosis of Zellweger syndrome by measurement of very long chain fatty acid (C26:0) beta-oxidation in cultured chorionic villous fibroblasts: implications for early diagnosis of other peroxisomal disorders. (3652452)
1987
50
Rhizomelic chondrodysplasia punctata: another peroxisomal disorder. (4010717)
1985

Variations for Peroxisome Disorders

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Expression for genes affiliated with Peroxisome Disorders

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Search GEO for disease gene expression data for Peroxisome Disorders.

Pathways for genes affiliated with Peroxisome Disorders

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Compounds for genes affiliated with Peroxisome Disorders

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GO Terms for genes affiliated with Peroxisome Disorders

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Products for genes affiliated with Peroxisome Disorders

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Sources for Peroxisome Disorders

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet