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2,043 Possible Causes for Corneal Opacity, Early-Onset Coronary Artery Stenosis, Heat Intolerance

  • Fabry Disease

    intolerance (71%), and abdominal pain (57%).[ncbi.nlm.nih.gov] Heterozygous females are usually asymptomatic but may have an attenuated form of disease often characterized by corneal opacities.[merckmanuals.com] Only his 11-year-old daughter - showing acroparaesthesias and heat intolerance with reduced enzymatic activity - had the same mutation.[ncbi.nlm.nih.gov]

    Missing: Early-Onset Coronary Artery Stenosis
  • Autonomic Neuropathy

    The symptoms depend upon what organs are affected and may include abdominal swelling, heat intolerance, nausea, vomiting, impotence, diarrhea , constipation , dizziness with[medicinenet.com] They consist of skin lesions (angiokeratomas), corneal opacities, cardiac hypertrophy and rhythm disturbances, renal failure, acroparesthesias, defective sweating (hypo- or[bmcneurol.biomedcentral.com] Symptoms of Autonomic Neuropathy General symptoms of this condition may include: Inability to sweat properly, leading to heat intolerance Loss of bladder control, leading[stanfordhealthcare.org]

    Missing: Early-Onset Coronary Artery Stenosis
  • Isolated Congenital Sclerocornea

    intolerance Concave nasal ridge Agammaglobulinemia Anhidrosis Hypohidrosis Sparse scalp hair Ectodermal dysplasia Duane anomaly Parietal foramina Single transverse palmar[mendelian.co] Causes of congenital corneal opacities may be classified as primary corneal disease or secondary corneal disease.[emedicine.medscape.com] PETER’S ANOMALY Classification Type I Corneal Opacity Iridocorneal Adhesions Type II Corneal Opacity Iridocorneal Adhesions Lens abnormality Unilateral involvement Frequently[slideshare.net]

    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] 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] Ophthalmologic findings include corneal opacities on slit-lamp examination noted as diffuse stromal granularities.[emedicine.medscape.com]

    Missing: Heat Intolerance
  • Erythromelalgia

    Heat intolerance (and aggravation of symptoms with standing or exercise) and relief of symptoms with cooling (and elevation of the affected body part and rest) are hallmarks[accessanesthesiology.mhmedical.com] opacity: Cornea verticillata Conjunctival & Retinal vessels: Tortuous Systemic, Other Episodic fever: 20 years Edema (50%) Hypothyroid Prognosis Survival Median: 50 years[neuromuscular.wustl.edu] intolerance, and relief with cooling Course: The prognosis and course vary widely.[drpribut.com]

    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: Heat Intolerance
  • 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: Heat Intolerance
  • Lamellar Ichthyosis

    We report a 42-year-old man with generalized thick brownish scales and severe thermodysregulation leading to heat intolerance.[ncbi.nlm.nih.gov] At 12-month follow-up, the child was doing well, with no ectropion or corneal opacity.[ncbi.nlm.nih.gov] […] days to weeks of life Child/Adult Generalized large, dark, platelike scale increased in flexures; erythroderma; ectropion; palmoplantar keratoderma; decreased sweating with heat[cram.com]

    Missing: Early-Onset Coronary Artery Stenosis
  • X-Linked Ichthyosis

    intolerance: Skin is a very important organ to maintain the body temperature.[dovemed.com] Characteristic corneal opacities are small punctate or filiform lesions and are located in the deep corneal stroma.[ncbi.nlm.nih.gov] intolerance Alopecia *Congenital ichthyosiform erythroderma (an autosomal recessive congenital ichthyosis) Autosomal dominant (mutations spontaneous in about 50% of cases[merckmanuals.com]

    Missing: Early-Onset Coronary Artery Stenosis
  • Ichthyosis Vulgaris

    Family 1 had seven individuals with IV, severe heat intolerance and epidermis with 1-3 granular layers (consistent with normal epidermal histology).[ncbi.nlm.nih.gov] PLATANUS OCCIDENTALIS 30 —Platanus occidentalis is prescribed for X linked ichthyosis with corneal opacity and cataract .[ks-gopi.blogspot.com] In more severe disease, scaling extends to large areas of the trunk, scalp, forehead and cheeks, and there may be itchiness and heat intolerance.[genedx.com]

    Missing: Early-Onset Coronary Artery Stenosis

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