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Details on Person autosomal recessive congenital ichthyosis

Class:IdDisease:5602266
_displayNameautosomal recessive congenital ichthyosis
_timestamp2023-04-07 10:50:52
created[InstanceEdit:5602279] Jassal, Bijay, 2014-06-23
identifier0060655
modified[InstanceEdit:9832764] Orlic-Milacic, Marija, 2023-04-07
nameautosomal recessive congenital ichthyosis
referenceDatabase[ReferenceDatabase:1247631] DOID
synonymlamellar ichthyosis
Ichthyosiform erythroderma
Alligator skin
nonbullous congenital ichthyosiform erythroderma
Congenital non bullous ichthyosiform erythroderma
(disease)[Pathway:5579005] Defective CYP4F22 causes ARCI5 [Homo sapiens]
[FailedReaction:5602272] Defective CYP4F22 does not 20-hydroxylate TrXA3 [Homo sapiens]
[Pathway:5682294] Defective ABCA12 causes ARCI4B [Homo sapiens]
[FailedReaction:5682311] Defective ABCA12 does not transport lipids from cytosol to extracellular region [Homo sapiens]
[DefinedSet:5602265] CYP4F22 mutants [endoplasmic reticulum membrane] [Homo sapiens]
[EntityWithAccessionedSequence:5602276] CYP4F22 H436D [endoplasmic reticulum membrane] [Homo sapiens]
[EntityWithAccessionedSequence:5602287] CYP4F22 H435Y [endoplasmic reticulum membrane] [Homo sapiens]
[EntityWithAccessionedSequence:5602291] CYP4F22 W521* [endoplasmic reticulum membrane] [Homo sapiens]
[EntityWithAccessionedSequence:5602296] CYP4F22 R243H [endoplasmic reticulum membrane] [Homo sapiens]
[EntityWithAccessionedSequence:5682291] ABCA12 D2363N [plasma membrane] [Homo sapiens]
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No pathways have been reviewed or authored by autosomal recessive congenital ichthyosis (5602266)