About: Infantile Refsum disease

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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.

Attributes	Values
rdf:type	Thing Disease yago:WikicatAutosomalRecessiveDisorders yago:WikicatNeurodegenerativeDisorders yago:Abstraction100002137 yago:Attribute100024264 yago:Condition113920835 yago:Disease114070360 yago:Disorder114052403 yago:IllHealth114052046 yago:Illness114061805 yago:PathologicalState114051917 yago:PhysicalCondition114034177 disease yago:State100024720 yago:WikicatPeroxisomalDisorders
rdfs:label	Infantile Refsum disease (en)
rdfs:comment	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. (en)
foaf:name	Infantile Refsum disease (en)
name	Infantile Refsum disease (en)
foaf:depiction
dcterms:subject	Autosomal recessive disorders Genodermatoses Rare diseases Neurodegenerative disorders Peroxisomal disorders
Wikipage page ID	12212335 (xsd:integer)
Wikipage revision ID	1092047054 (xsd:integer)
Link from a Wikipage to another Wikipage	Pristanic acid Beta-oxidation Blood plasma Leukodystrophy Peroxisomal disorder Autosomal recessive disorders Peroxisome biogenesis disorders Autosomal recessive Genodermatoses Central nervous system Refsum disease Rare diseases Neurodegenerative disorders Hypotonia Peroxisomal disorders Hepatomegaly Zellweger syndrome Dominance (genetics) Autosome Phytanic acid Pneumonia Neonatal adrenoleukodystrophy Catabolism Congenital abnormality Myelin Plasmalogen Peroxisome Very long chain fatty acid Alpha-oxidation Plasmalogens Very long chain fatty acids
Link from a Wikipage to an external page	https://www.ncbi.nlm.nih.gov/books/NBK1448/
sameAs	Infantile Refsum disease Infantile Refsum disease Infantile Refsum disease Infantile Refsum disease
dbp:wikiPageUsesTemplate	dbt:Citation_needed dbt:Cite_journal dbt:Cn dbt:Infobox_medical_condition_(new) dbt:Medical_resources dbt:Refbegin dbt:Refend dbt:Reflist dbt:OMIM dbt:Peroxisomal_disorders
thumbnail	wiki-commons:Special:FilePath/Phytanic_acid.png?width=300
DiseasesDB	14248 (xsd:integer)
ICD	G60.1 (en)
MeshID	D052919 (en)
OMIM	266510 (xsd:integer)
Orphanet	772 (xsd:integer)
caption	Phytanic acid
synonyms	Infantile phytanic acid storage disease' (en)
has abstract	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. (en)
gold:hypernym	Disorder
MeSH ID	D052919
prov:wasDerivedFrom	wikipedia-en:Infantile_Refsum_disease?oldid=1092047054&ns=0
page length (characters) of wiki page	9780 (xsd:nonNegativeInteger)
DiseasesDB	14248
ICD10	G60.1
OMIM id	266510 (xsd:integer)
ORPHA	772
foaf:isPrimaryTopicOf	wikipedia-en:Infantile_Refsum_disease
is Link from a Wikipage to another Wikipage of	List of abbreviations for diseases and disorders Peroxisomal disorder PEX6 Glossary of medicine Refsum disease Zellweger spectrum disorders Zellweger syndrome Pipecolic acidemia

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