Disease #02032 (peroxisomal acyl-CoA (peroxisomal acyl-CoA oxidase deficiency), OMIM:264470)

Official abbreviation peroxisomal acyl-CoA
Name peroxisomal acyl-CoA oxidase deficiency
OMIM ID 264470
Human Phenotype Ontology Project (HPO) HPO
Inheritance Digenic
Individuals reported having this disease 28
Phenotype entries for this disease 28
Associated with 1 gene ACOX1
Associated tissues -
Disease features 12/13 hypotonia (HP:0001252 ), 10/11 seizures (HP:0001250, 3/8 failure to thrive (HP:0001508), 7/9 2m-visual system failure (nystagmus, strabismus, failure to fixate objects, 3/8 impaired vision (HP:0000505), 10/13 hearing impairment (HP:0000365), 10/12 loss of motor achievements (HP:0033044), 5/10 hepatomegaly (HP:0002240), 5/10 external dysmorphia, 12/12 white matter abnormalities (HP:0002500), retinal pigmentary changes (HP:0007703)/retinal degeneration (HP:0000546), osteopenia (HP:0000938), 28m-mean age of regression(range 4-42m), 5y-mean age of death (range 4-10y)
Remarks -
Date created 2014-09-25 23:29:40 +02:00 (CEST)
Date last edited 2025-01-15 11:04:25 +01:00 (CET)


Individuals

28 entries on 1 page. Showing entries 1 - 28.
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00459975 FamPat1 PubMed: Suzuki 2002 2-generation family, affected brother/sister, unaffected heterozygous carrier parents M yes Japan - - - - - peroxisomal acyl-CoA see paper; ..., 32m-walk, 34m-regression; 11y-deaf, tube feeding ACOX1 ACOX1 1 2 Johan den Dunnen
00459976 FamPat2 PubMed: Suzuki 2002 sister F yes Japan - 04y - - - peroxisomal acyl-CoA see paper; ..., 22m-walk with support, speech few words, 26m-regression; 4y-deceased (respiratory problems) ACOX1 ACOX1 1 1 Johan den Dunnen
00459977 Pat3 PubMed: Suzuki 2002 2-generation family, 1 affected, unaffected heterozygous carrier parents F yes Japan - 03y06m - - - peroxisomal acyl-CoA see paper; ..., neonatal mild hypotonia, horizontal nystagmus; 2m-convulsions; 7m-head control, 10m-roll ove, 18m-speech few words, 24m-crawl, not sitting; 28m-regression, severe hypotonia, dysphagia, increased tendon reflexes lower extremities, positive Babinski reflex; 37m-retinal degeneration; no dysmorphic features, no hepatosplenomegaly; 42m-deceased (respiratory failure) ACOX1 ACOX1 1 1 Johan den Dunnen
00459978 patient PubMed: Rosewich 2006 2-generation family, 1 affected, unaffected heterozygous carrier parents M no Germany - - - - - peroxisomal acyl-CoA see paper; ..., deceased; 2m-psychomotor retardation, severe axial/peripheral muscular hypotonia, poor feeding; MRI brain pachygyria, perisylvian polymicrogyria, cerebral/ cerebellar white matter abnormalities; facial dysmorphism; progressive psychomotor retardation; deafness; retinopathy; peripheral neuropathy; infantile seizures ACOX1 ACOX1 1 1 Johan den Dunnen
00459979 patient PubMed: Ferdinandusse 2007 - - - - - - - - - peroxisomal acyl-CoA - ACOX1 ACOX1 2 1 Johan den Dunnen
00459980 patient PubMed: Ferdinandusse 2007 - - - - - - - - - peroxisomal acyl-CoA - ACOX1 ACOX1 2 1 Johan den Dunnen
00459981 patient PubMed: Ferdinandusse 2007 - - - - - - - - - peroxisomal acyl-CoA - ACOX1 ACOX1 1 1 Johan den Dunnen
00459982 patient PubMed: Ferdinandusse 2007 - - - - - - - - - peroxisomal acyl-CoA - ACOX1 ACOX1 1 1 Johan den Dunnen
00459983 patient PubMed: Ferdinandusse 2007 - - - - - - - - - peroxisomal acyl-CoA - ACOX1 ACOX1 1 1 Johan den Dunnen
00459984 patient PubMed: Ferdinandusse 2007 - - - - - - - - - peroxisomal acyl-CoA - ACOX1 ACOX1 1 1 Johan den Dunnen
00459985 patient PubMed: Ferdinandusse 2007 - - - - - - - - - peroxisomal acyl-CoA - ACOX1 ACOX1 1 1 Johan den Dunnen
00459986 patient PubMed: Ferdinandusse 2007 - - - - - - - - - peroxisomal acyl-CoA - ACOX1 ACOX1 1 1 Johan den Dunnen
00459987 patient PubMed: Ferdinandusse 2007 - - - - - - - - - peroxisomal acyl-CoA - ACOX1 ACOX1 1 1 Johan den Dunnen
00459988 patient PubMed: Ferdinandusse 2007 - - - - - - - - - peroxisomal acyl-CoA - ACOX1 ACOX1 1 1 Johan den Dunnen
00459989 patient PubMed: Ferdinandusse 2007 - - - - - - - - - peroxisomal acyl-CoA - ACOX1 ACOX1 1 1 Johan den Dunnen
00459990 patient PubMed: Ferdinandusse 2007 - - - - - - - - - peroxisomal acyl-CoA - ACOX1 ACOX1 1 1 Johan den Dunnen
00459991 patient PubMed: Ferdinandusse 2007 - - - - - - - - - peroxisomal acyl-CoA - ACOX1 ACOX1 1 1 Johan den Dunnen
00459992 patient PubMed: Ferdinandusse 2007 - - - - - - - - - peroxisomal acyl-CoA - ACOX1 ACOX1 1 1 Johan den Dunnen
00459993 patient PubMed: Ferdinandusse 2007 - - - - - - - - - peroxisomal acyl-CoA - ACOX1 ACOX1 1 1 Johan den Dunnen
00459994 patient PubMed: Ferdinandusse 2007 - - - - - - - - - peroxisomal acyl-CoA - ACOX1 ACOX1 1 1 Johan den Dunnen
00459995 patient PubMed: Ferdinandusse 2007 - - - - - - - - - peroxisomal acyl-CoA - ACOX1 ACOX1 1 1 Johan den Dunnen
00459996 patient PubMed: Ferdinandusse 2007 - - - - - - - - - peroxisomal acyl-CoA - ACOX1 ACOX1 1 1 Johan den Dunnen
00459997 patient PubMed: Ferdinandusse 2007 - - - - - - - - - peroxisomal acyl-CoA - ACOX1 ACOX1 1 1 Johan den Dunnen
00459998 patient PubMed: Ferdinandusse 2007 - - - - - - - - - peroxisomal acyl-CoA - ACOX1 ACOX1 1 1 Johan den Dunnen
00459999 Pat1 PubMed: Carrozzo 2008 2-generation family, 1 affected, unaffected heterozygous first-cousin carrier parents M yes Italy - - - - - peroxisomal acyl-CoA see paper;, birth 33w-cesarean section, weight 2,000g, severe generalized hypotonia; 1m-generalized epileptic seizures; 6m-tonic–clonic seizures, myoclonic jerks with emporary remissions; severely delayed, no postural control; 4y-spastic tetraplegia, severe intellectual disability, poor response to visua/auditory stimuli ACOX1 ACOX1 1 1 Johan den Dunnen
00460000 patient PubMed: Carrozzo 2008 2-generation family, 1 affected, unaffected parents M - Italy - - - - - peroxisomal acyl-CoA see paper; .., birt at term, weight 3750g, length 54cm, OFC 34cm; neonatal hypotonia, partial seizures; 4m-severe hypotonia, no active posture, decreased tendon reflezes; no craniofacial dysmorphism, psychomotor retardation, no retinopathy/optic atrophy, no white matter demyelination, no impaired hearing; 1y-polymicrogyria;2.6y-walk with support, psychomotor delay, mildly deaf ACOX1 ACOX1 2 1 Johan den Dunnen
00460005 patient PubMed: Morita 2021 2-generation family, affected sister/brother, unaffected heterozygous carrier parents F no Japan - - - - - peroxisomal acyl-CoA see paper; ..., mild language disorder; white matter abnormalities; 6y2m-seizures; dysmorphism; 5y10m regression - ACOX1 2 2 Johan den Dunnen
00460006 FamPat2 PubMed: Morita 2021 brother M no Japan - - - - - peroxisomal acyl-CoA see paper; ..., white matter abnormalities; 3m-seizures; dysmorphism; 5y6m regression - ACOX1 2 1 Johan den Dunnen
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