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8,665 Possible Causes for Anemia, Corneal Opacity, Early-Onset Coronary Artery Stenosis

  • Fabry Disease

    Mild anemia is probably due to decreased RBC survival. Poor heat and exercise tolerance is commonly observed in patients.[emedicine.medscape.com] Heterozygous females are usually asymptomatic but may have an attenuated form of disease often characterized by corneal opacities.[merckmanuals.com] […] hepatosplenomegaly and skeletal deformities; the neuronopathic forms are divided into infantile and juvenile forms; the infantile form presents at 4-5 months of age with anemia[icd9data.com]

    Missing: Early-Onset Coronary Artery Stenosis
  • Gaucher Disease

    [emedicine.medscape.com] Entire Body System Anemia PATIENT CONCERNS: A patient known for hepatosplenomegaly with hyperferritinemia, anemia, and thrombocytopenia was admitted[symptoma.com] Ophthalmic evaluation in a 57-year-old white patient demonstrated corneal opacities scattered throughout the cornea.[ncbi.nlm.nih.gov] CONCLUSION: This mutation results in calcified heart valves, corneal opacities, alteration of oculomotricity and hydrocephalus.[ncbi.nlm.nih.gov]

    Missing: Early-Onset Coronary Artery Stenosis
  • Lecithin Acyltransferase Deficiency

    Renal function generally stabilized or improved and the anemia improved.[ncbi.nlm.nih.gov] Both have corneal opacity, splenomegaly and mild hemolytic anemia. The brother, the older of the 2, also has significant proteinuria.[ncbi.nlm.nih.gov] Absence of this enzyme can result in a rare syndrome that includes diffuse corneal opacities, normocytic normochromic anemia, proteinuria, renal failure, and premature arteriosclerosis[ncbi.nlm.nih.gov]

    Missing: Early-Onset Coronary Artery Stenosis
  • Congenital Syphilis

    Anemia and thrombocytopenia are common hematological findings.[ncbi.nlm.nih.gov] Eyes revealed dense corneal opacities with complete loss of vision in right eye. Left eye was normal. Patient was edentulous.[ijdvl.com] Saddle-nose, saber-tibia, corneal scarring or opacities, Hutchinson’s incisers, nerve deafness, rhagades, Clutton’s joints and nodular or gummatous lesions of the skin etc[stdpioneer.org]

    Missing: Early-Onset Coronary Artery Stenosis
  • Riboflavin Deficiency

    Severity of anemia was no different between the two anemic groups either.[ncbi.nlm.nih.gov] Other signs include corneal opacity, lenticular cataracts, hemorrhagic adrenals, fatty degeneration of the kidney and liver, and inflammation of the mucous membrane of the[en.wikipedia.org] Riboflavin deficiency also alters your iron balance, and can contribute to iron deficiency anemia – so symptoms associated with anemia are often signs that you might also[stop-being-tired.com]

    Missing: Early-Onset Coronary Artery Stenosis
  • 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] […] hepatosplenomegaly and skeletal deformities; the neuronopathic forms are divided into infantile and juvenile forms; the infantile form presents at 4-5 months of age with anemia[icd9data.com] 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]

  • 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] E70-E88 Metabolic disorders Type 1 Excludes androgen insensitivity syndrome ( E34.5- ) congenital adrenal hyperplasia ( E25.0 ) Ehlers-Danlos syndrome ( Q79.6 ) hemolytic anemias[icd10data.com] Corneal opacity is seen between two and four years of age and requires keratoplasty to restore sight.[orpha.net]

  • Mucopolysaccharidosis 1H

    onset severe regurgitation and stenosis coronary artery disease cardiomegaly: initially hypertrophic then dilated Other features include prominent perivascular spaces hepatosplenomegaly[radiopaedia.org] E70-E88 Metabolic disorders Type 1 Excludes androgen insensitivity syndrome ( E34.5- ) congenital adrenal hyperplasia ( E25.0 ) Ehlers-Danlos syndrome ( Q79.6 ) hemolytic anemias[icd10data.com] Hurler syndrome patients have progressive mental degeneration, a broad forehead with heavy eyebrows, enlarged and deformed skull, small stature, corneal opacities, hepatosplenomegaly[medicinenet.com]

  • Late Congenital Syphilis

    Common features: stillbirth prematurity, low birth weight, IUGR hepatomegaly, splenomegaly skeletal abnormalities skin lesions pneumonia hyperbilirubinemia anemia snuffles[johnsarm.net] Stigmata due to late congenital syphilis are perforation of palate, corneal opacities, optic atrophy and periosteal changes of tibia. [6] The transmission of infection to[ijstd.org] Eyes revealed dense corneal opacities with complete loss of vision in right eye. Left eye was normal. Patient was edentulous.[ijdvl.com]

    Missing: Early-Onset Coronary Artery Stenosis
  • Mucolipidosis Type 4

    All had a constitutive achlorhydria with elevated plasma gastrin level, and 12 had iron deficiency or anemia.[ncbi.nlm.nih.gov] It is a progressive disease that usually presents during the first year of life with mental retardation, corneal opacities, and delayed motor milestones.[ingentaconnect.com] For instance, anemia is treated by iron supplements. Some of the movement deficiencies may be corrected with orthopedic intervention.[en.wikipedia.org]

    Missing: Early-Onset Coronary Artery Stenosis

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