All individuals with variants in gene ACOX1

42 entries on 1 page. Showing entries 1 - 42.
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00459525 - - family, affected son/father M - - (not applicable) white - - - - ? HP:000408, HP:0001251, HP:0002321, HP:0004324, HP:0000771, HP:0031843, HP:0008299, HP:0007006 1 2 Marketa Wayhelova
00459974 FamPat1/2 PubMed: Poll-The 1988, PubMed: Fournier 1994 2-generation family, affected sister/brother, unaffected heterozygous carrier parents F;M yes France - - - - - ALD see paper; ..., severe hypotonia, intellectual disability, seizures, no dysmorphic features; enlarged hepatic peroxisomes 1 1 Johan den Dunnen
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 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) 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) 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 1 1 Johan den Dunnen
00459979 patient PubMed: Ferdinandusse 2007 - - - - - - - - - peroxisomal acyl-CoA - 2 1 Johan den Dunnen
00459980 patient PubMed: Ferdinandusse 2007 - - - - - - - - - peroxisomal acyl-CoA - 2 1 Johan den Dunnen
00459981 patient PubMed: Ferdinandusse 2007 - - - - - - - - - peroxisomal acyl-CoA - 1 1 Johan den Dunnen
00459982 patient PubMed: Ferdinandusse 2007 - - - - - - - - - peroxisomal acyl-CoA - 1 1 Johan den Dunnen
00459983 patient PubMed: Ferdinandusse 2007 - - - - - - - - - peroxisomal acyl-CoA - 1 1 Johan den Dunnen
00459984 patient PubMed: Ferdinandusse 2007 - - - - - - - - - peroxisomal acyl-CoA - 1 1 Johan den Dunnen
00459985 patient PubMed: Ferdinandusse 2007 - - - - - - - - - peroxisomal acyl-CoA - 1 1 Johan den Dunnen
00459986 patient PubMed: Ferdinandusse 2007 - - - - - - - - - peroxisomal acyl-CoA - 1 1 Johan den Dunnen
00459987 patient PubMed: Ferdinandusse 2007 - - - - - - - - - peroxisomal acyl-CoA - 1 1 Johan den Dunnen
00459988 patient PubMed: Ferdinandusse 2007 - - - - - - - - - peroxisomal acyl-CoA - 1 1 Johan den Dunnen
00459989 patient PubMed: Ferdinandusse 2007 - - - - - - - - - peroxisomal acyl-CoA - 1 1 Johan den Dunnen
00459990 patient PubMed: Ferdinandusse 2007 - - - - - - - - - peroxisomal acyl-CoA - 1 1 Johan den Dunnen
00459991 patient PubMed: Ferdinandusse 2007 - - - - - - - - - peroxisomal acyl-CoA - 1 1 Johan den Dunnen
00459992 patient PubMed: Ferdinandusse 2007 - - - - - - - - - peroxisomal acyl-CoA - 1 1 Johan den Dunnen
00459993 patient PubMed: Ferdinandusse 2007 - - - - - - - - - peroxisomal acyl-CoA - 1 1 Johan den Dunnen
00459994 patient PubMed: Ferdinandusse 2007 - - - - - - - - - peroxisomal acyl-CoA - 1 1 Johan den Dunnen
00459995 patient PubMed: Ferdinandusse 2007 - - - - - - - - - peroxisomal acyl-CoA - 1 1 Johan den Dunnen
00459996 patient PubMed: Ferdinandusse 2007 - - - - - - - - - peroxisomal acyl-CoA - 1 1 Johan den Dunnen
00459997 patient PubMed: Ferdinandusse 2007 - - - - - - - - - peroxisomal acyl-CoA - 1 1 Johan den Dunnen
00459998 patient PubMed: Ferdinandusse 2007 - - - - - - - - - peroxisomal acyl-CoA - 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 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 2 1 Johan den Dunnen
00460001 Pat1 PubMed: Chung 2020 2-generation family, 1 affected, unaffected non carrier parents - - United States - 19y - - - neuropathy see paper; ..., 19y-deceased; progressive neuropathy; no inflammatory response; very-long-chain fatty acid normal; normal to abnormal white matter demyelination; decreased sensorimotor polyneuropathy; normal to decreased cognition; ataxia; chronic axon loss 1 1 Johan den Dunnen
00460002 Pat2 PubMed: Chung 2020 2-generation family, 1 affected, unaffected non carrier parents - - - - - - - - neuropathy see paper; ..., 15y-coma; progressive neuropathy; no inflammatory response; very-long-chain fatty acid normal; normal to abnormal white matter demyelination; decreased sensorimotor polyneuropathy; normal to decreased cognition; ataxia; ongoing and chronic axon loss 1 1 Johan den Dunnen
00460003 Pat3 PubMed: Chung 2020 2-generation family, 1 affected, unaffected non carrier parents - - - - - - - - neuropathy see paper; ..., 19y-deceased; progressive neuropathy; no inflammatory response; very-long-chain fatty acid normal; normal to abnormal white matter demyelination; decreased sensorimotor polyneuropathy; decreased cognition; ataxia; ongoing and chronic axon loss 1 1 Johan den Dunnen
00460004 patient PubMed: Masson 2016 2-generation family, 1 affected, unaffected heterozygous carrier parents/relatives M yes Pakistan - - - - - NDD see paper; ..., birth hypotonia; seizures; developmental delay, progressive neurological deterioration; 3y-onset severe seizures; MRI brain 5d-normal, 20d-bilateral hyperintensity deep cerebellar nuclei 1 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 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 2 1 Johan den Dunnen
00460007 patient PubMed: Shen 2023 2-generation family, 1 affected, unaffected non carrier parents F - China - - - - - MITCH see paper; ..., 7y-diffuse desquamatory rash, gait instability, ptosis with photophobia, hearing loss, abdominal pain, diarrhea, nausea, dysuria 1 1 Johan den Dunnen
00460008 patient PubMed: Jafarpour 2022 - F - United States - - - - - ? see paper; ..., 14y-sensory ataxia; seizures; hearing loss; keratitis, corneal scarring; ichthyosiform rash; no intellectual disability, progression waxing and waning; MRI brain few scattered T2 hyperintensities in frontal lobes; axonal polyneuropathy 1 1 Johan den Dunnen
00460009 patient Swartwood 2021 acc. to PubMed: Shen 2023 - - - - - - - - - MITCH - 1 1 Johan den Dunnen
00460010 Pat1 PubMed: Thiels 2024 2-generation family, 1 affected, unaffected non carrier parents M - Germany - 16y - - - NDD see paper; ..., 16y-deceased; 4y-progressive hearing loss; spinal MRI extensive myelitis longitudinal extensive intramedullary T2 lesion entire myelon, centrally located with swelling spinal cord; MRI-brain 5y-normal; polyneuropathy; 9y-subacute ataxia; speech delay; seizures; sensorineural hearing loss; subepithelial clouding, subepithelial chalk deposition, corneal degeneration, amaurosis; dry/scaling skin, ichthyosis; anti-MOG-antibody-associated myelitis 1 1 Johan den Dunnen
00460011 Pat2 PubMed: Thiels 2024 - M - Germany - 08y - - - NDD see paper; ..., 8y-deceased; 3y-recurrent eye problems; MRI brain 5y-normal; polyneuropathy; ataxia; no intellectual disability, no developmental delay; no seizures; sensorineural hearing loss; tinging pain, photophobia, conjunctivitis, follicular hyperkeratosis, optic atrophy, amaurosis; follicular hyperkeratosis; left ventricular dilative cardiomyopathy; neurogenic bladder; intermittently elevated blood lactate 1 1 Johan den Dunnen
00460013 Pat1 PubMed: Gong 2024 2-generation family, 1 affected, unaffected non carrier parents M - China Han - - - - MITCH see paper; ..., diffused erythroderma with whitish fine scales, hyperkeratosis plaques with brown coarse scales, pruritus; no alopecia; hearing loss; reduced visual acuity; ataxia; polyneuropathy; normal to impaired cognition; no gastrointestinal symptoms; no dysuria; normal white matter demyelination 1 1 Johan den Dunnen
00460014 Pat2 PubMed: Gong 2024 2-generation family, 1 affected, unaffected non carrier parents F - China Han - - - - MITCH see paper; ..., erythema, hyperkeratosis with gray-to-brown scales, fissures, follicular papules, pruritus; no alopecia; hearing loss; allergic conjunctivitis; ataxia; polyneuropathy; normal to impaired cognition; seizures; no gastrointestinal symptoms; no dysuria 1 1 Johan den Dunnen
00460015 patient PubMed: Filippi 2024 2-generation family, 1 affected, unaffected non carrier father F - Italy - - - - - MITCH see paper; ..., ,progressive sensorineural deafness visual abnormalities, skin ichthyosis; infantile age gait ataxia, progressive worsening, 10y-loss of walking 1 1 Johan den Dunnen
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