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11 Possible Causes for Cataract, Mutation in the ALOX12B Gene, Palmar Hyperlinearity

  • Ichthyosis

    Autosomal recessive congenital ichthyosis- 1 (ARCI1) is caused by homozygous or compound heterozygous mutation in the TGM1 gene.[bredagenetics.com] Transglutaminase activity in normal human lenses and senile cataract. Ann Clin Lab Sci 1995; 25 : 236–240.[nature.com] Palms and soles show accentuated creases and when affecting the palms this sign is referred to as palmar hyperlinearity or as “ichthyosis palms”.[medizin.uni-muenster.de]

  • Congenital Non-Bullous Ichthyosiform Erythroderma ARCI2

    She was diagnosed with nonbullous CIE and WES uncovered a homozygous c.944T C (p.Leu315Pro) mutation in exon 8 of the ALOX12B gene.[cags.org.ae] Clinical characteristics are congenital generalized ichthyosis, vacuolated leukocytes, hepatomegaly, myopathy, cataracts, neurosensory hearing loss and developmental delay[nectarmutation.org] hyperlinearity were observed.[ncbi.nlm.nih.gov]

  • Inherited Ichthyosis

    […] in the ALOX12B gene.[oatext.com] Retinitis pigmentosa Peripheral neuropathy ataxia PAHX/Phytanol-CoA alpha-hydroxylase Elevation of plasma phytanic acid levels Dorfman Chanarin syndrome AR Hepatomegaly Myopathy Cataracts[dermquest.com] […] keratoderma in LK ( LOR ). ( f ) Palmar hyperlinearity in IV ( FLG ). ( g ) Generalized fine scaling phenotype with concomitant severe erythema in NS ( SPINK5 ). ( h ) Onychoschisis[nature.com]

  • Congenital Non-Bullous Ichthyosiform Erythroderma ARCI 10

    […] in the TGM1 gene, {6:Harting et al. (2008)} identified compound heterozygosity for mutations in the ALOX12B gene ({603741.0008}-{603741.0011}).[bio2rdf.org] 601718); cone–rod dystrophy 3 (CORD3; MIM 604116); macular degeneration age-related 2 (ARMD2; MIM 153800); ATP-binding cassette, subfamily A, member 4 (ABCA4; MIM 601691); cataract[hmg.oxfordjournals.org] When examined at 2–37 years of age, all patients exhibited skin xerosis, fine or focal scaling (Fig. 1c), palmar hyperlinearity or keratoderma, and frequent occurrence of[medicaljournals.se]

  • Microphthalmia - Ankyloblepharon - Intellectual Disability Syndrome

    CIE is due to mutations in several genes, including TGM1 and ALOX12B [ 45 ].[entokey.com] SYNDROME/Cataract, microcornea, microphakia, keratoconus, glaucoma, ptosis/AD/LMX1B/#161200 NANCE-HORAN SYNDROME/Congenital cataracts, glaucoma, microphthalmia, microcornea[eyewiki.org] SYNDROME Cataract, microcornea, microphakia, keratoconus, glaucoma, ptosis AD LMX1B #161200 NANCE-HORAN SYNDROME Congenital cataracts, glaucoma, microphthalmia, microcornea[eyewiki.aao.org]

  • Intellectual Disability - Spasticity - Ectrodactyly Syndrome

    CIE is due to mutations in several genes, including TGM1 and ALOX12B [ 45 ].[entokey.com] Arachnodactyly ataxia cataract aminoaciduria mental retardation 0 *Cataract *Intellectual Disability *Arachnodactyly. more...[reference.md] Hyperferritinemia cataract syndrome GM1 gangliosidosis type 2 Renal coloboma syndrome Multiple familial trichoepithelioma Ataxia with vitamin E deficiency Landau-Kleffner[checkrare.com]

  • Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome

    CIE is due to mutations in several genes, including TGM1 and ALOX12B [ 45 ].[entokey.com] […] and congenital ichthyosis 0 *Cataract *Ichthyosis.[reference.md] […] adrenoleukodystrophy (202370) Peroxin-1 PEX1 (7q21-q22)* Biochemical profile: Elevated very long-chain fatty acids Clinical features: Dolichocephaly, dysmorphic facies, cataracts[msdmanuals.com]

  • Autosomal Recessive Congenital Ichthyosis Type 4

    Bilateral Severe Ectropion and Mature Cataract in Lamellar ichthyosis. J North Zone Ophthalmolog Soc 2004;14:34-6. 3. Boparai MS, Dash RG, Sohi BK.[ojoonline.org] Harting et al. (28) later described two American cases of SHCB/SICI with novel mutations in the ALOX12B gene.[medicaljournals.se] . • Cataract. • Dehydration [ 5 ]. • Foot and hand poly dactyly [ 5 ]. • Malignant hyper thalamia. • Self injurious behaviour. • Sudden cardiac death.[skin-diseases-and-skin-care.imedpub.com]

  • Anonychia with Flexural Pigmentation

    ; keratin K1, K10 genes on Chromosome 12q, 17q respect AR; transglutaminase 1 (TGM1) gene on 14q11 Congenital Ichthyosiform Erythroderma (CIE) aka Nonbullous CIE AR; TGM1[cram.com] hyperlinearity, keratosis pilaris • Pityriasis alba • Nipple eczema • White dermatographism and delayed blanch response • Anterior subcapsular cataracts, keratoconus • Elevated[slideshare.net] Corneal dyskeratosis, cataracts 8. Hoarseness, deafness 9. Presence of teeth at birth 10. Short stature 11. Mental retardation 12. Steatocystoma multiplex 13.[sites.google.com]

  • Recessive X-Linked Ichthyosis without Steroid Sulfatase Deficiency

    Ocular changes including corneal ulceration, greatly reduced visual acuity, 18 and cataract 19 have been reported.[clinicalgate.com] Congenital Ichthyosiform Erythroderma (CIE) AR (some AD) TGM1 gene, few ALOXE3 or ALOX12B gene mutation (encode lipoxygenase 3 and 12R-lipoxygenase, respectively) 65.[slideshare.net] The proband (ǁǀ5) is a 9 year-old boy with generalized dry and grey brown scales, without involvement of the palms, soles and face, and no palmar hyperlinearity, accompanied[ijdvl.com]

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