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1,448 Possible Causes for Corneal Opacity, Early-Onset Coronary Artery Stenosis, Mutation in the GNPTAB Gene

  • Pseudo-Hurler Polydystrophy

    onset severe regurgitation and stenosis coronary artery disease cardiomegaly: initially hypertrophic then dilated Other features include prominent perivascular spaces hepatosplenomegaly[radiopaedia.org] Over 125 mutations in the GNPTAB gene and 24 mutations in the GNPTG gene have been identified to date.[fis-uke.de] opacity 0007957 Hyperlordosis Prominent swayback 0003307 Inguinal hernia 0000023 5%-29% of people have these symptoms Abnormal aortic valve morphology 0001646 Cleft palate[rarediseases.info.nih.gov]

  • Mucolipidosis

    Using targeted next-generation sequencing genetic analysis, we located two homozygous nonsense mutations in the GNPTAB gene, c.1071G A (p.W357X) and c.1090C T (p.R364X).[ncbi.nlm.nih.gov] Central dense corneal opacity typical of Peters anomaly. B .[aao.org] Recessive mutations in the GNPTAB gene have been associated with MLIIIalpha/beta.[ncbi.nlm.nih.gov]

    Missing: Early-Onset Coronary Artery Stenosis
  • Mucopolysaccharidosis 1 H-S

    onset severe regurgitation and stenosis coronary artery disease cardiomegaly: initially hypertrophic then dilated Other features include prominent perivascular spaces hepatosplenomegaly[radiopaedia.org] Corneal opacity is seen between two and four years of age and requires keratoplasty to restore sight.[orpha.net] Typical symptoms include stiff joints, corneal opacities, carpal tunnel syndrome and mild skeletal changes.[cags.org.ae]

    Missing: Mutation in the GNPTAB Gene
  • Mucopolysaccharidosis 1H

    onset severe regurgitation and stenosis coronary artery disease cardiomegaly: initially hypertrophic then dilated Other features include prominent perivascular spaces hepatosplenomegaly[radiopaedia.org] Hurler syndrome patients have progressive mental degeneration, a broad forehead with heavy eyebrows, enlarged and deformed skull, small stature, corneal opacities, hepatosplenomegaly[medicinenet.com] There is dwarfism, many skeletal deformities, corneal opacity, heart abnormalities, mental retardation and early death. The condition was once known as ‘gargoylism’.[medical-dictionary.thefreedictionary.com]

    Missing: Mutation in the GNPTAB Gene
  • Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum

    Girisha, KM and Satyamoorthy, K (2012) Mucolipidosis Type II a/b With a Homozygous Missense Mutation in the GNPTAB Gene.[eprints.manipal.edu] Other features of MONA can include clouding of the clear front covering of the eye (corneal opacity), excess hair growth (hypertrichosis), overgrowth of the gums, heart abnormalities[ncbi.nlm.nih.gov] Various additional features including coarse face, corneal opacities, gum hypertrophy, and EKG changes have been reported.[malacards.org]

    Missing: Early-Onset Coronary Artery Stenosis
  • Keratitis

    opacity were noted after topical and oral antibiotic treatment for 6 months.[ncbi.nlm.nih.gov] His final visual acuity was 20/200 in the right eye and 20/60 in the left eye because of the remaining central corneal opacity.[ncbi.nlm.nih.gov] Liu, 54 percent of the patient group developed a central corneal opacity and 28 percent developed a change in their astigmatism of greater than 2 D.[reviewofophthalmology.com]

    Missing: Early-Onset Coronary Artery Stenosis Mutation in the GNPTAB Gene
  • Mucolipidosis Type 1

    […] in the GNPTAB gene.[ldnz.org.nz] Both exhibited classic cherry-red macular abnormalities, and the patient who would permit complete ophthalmologic examination had both corneal and lenticular opacities.[scholars.northwestern.edu] Color vision progressively diminishes while night blindness appears and, in some cases, corneal opacities and nystagmus are present. Intellectual capacity is normal.[orpha.net]

    Missing: Early-Onset Coronary Artery Stenosis
  • Winchester Syndrome

    The syndrome is characterized by short stature, coarse face, corneal opacities, generalized osteolysis and progressive painful arthropathy with joint stiffness and contractures[ncbi.nlm.nih.gov] Abstract The Winchester syndrome, a rare inherited disorder, is characterized by dwarfism, carpal-tarsal osteolysis, rheumatoid-like small joint destruction, corneal opacities[ncbi.nlm.nih.gov] The syndrome is characterized by dissolution of carpal and tarsal bones with generalized osteoporosis, progressive joint contractures, short stature, peripheral corneal opacities[ncbi.nlm.nih.gov]

    Missing: Early-Onset Coronary Artery Stenosis Mutation in the GNPTAB Gene
  • Diabetic Cataract

    […] a distance of around 30 cm from the affected eye through the use of an ophthalmoscope will confirm the presence of corneal opacities.[symptoma.com] […] lens cloudiness or opacity corneal opacity retinal opacity Answer: A What is the symptom of cataract? pain blurring of vision squint Answer: B How do we treat cataract?[pendidikanpesakit.myhealth.gov.my] Cataracts can be confirmed by a slit-lamp examination that will identify yellow, gray or white opacities in the lens.[symptoma.com]

    Missing: Early-Onset Coronary Artery Stenosis Mutation in the GNPTAB Gene
  • Fabry Disease

    Heterozygous females are usually asymptomatic but may have an attenuated form of disease often characterized by corneal opacities.[merckmanuals.com] opacity, lysosomal disease with restrictive cardiomyopathy, lysosomal disease with hypertrophic cardiomyopathy, rare hereditary metabolic disease with peripheral neuropathy[commons.wikimedia.org] opacities, and recurrent febrile episodes.[merckmanuals.com]

    Missing: Early-Onset Coronary Artery Stenosis Mutation in the GNPTAB Gene

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