31501 to 31600 most common queries

List represents a sample of symptoms, diseases, and other queries. Updated weekly.

• See Also Erythrocytosis Type 1
• Oxygen Affinity of Hemoglobin Normal
• Increased Red Blood Cell Mass
• Erythropoietin Normal
• Excessive Postsurgical Blood Loss
• Excessive Posttraumatic Blood Loss
• Mutation in the P2RY12 Gene
• Platelets Show Normal ADP-Induced Shape Change
• Platelets May Show Reduced ADP-Binding Activity
• Platelets Fail to Inhibit the Rise of cAMP Levels in Response to ADP
• Platelets Show Impaired Aggregation in Response to ADP
• Early Death due to Sepsis
• Peripheral Blood Monocytes Increased
• Monocyte Motility Impaired
• No Dentinogenesis Imperfecta
• Birth Length Normal
• Fracture Frequency Decreased Post Puberty
• Moderate-Severe Bone Fragility
• Onset in 1st to 3rd Decade of Life
• Onset in Infancy or Childhood
• Mutation in the Phospholipase C Epsilon 1 Gene
• Mutation in the Collagen IX Alpha 1 Polypeptide Gene
• Irregular Epiphyses
• Anterior Osteophytes of Thoracic and Lumbar Vertebrae
• Absent CH50 Activity in Complete C4 Deficiency
• Most Remit by 6 Weeks
• Drug-Resistent Seizures
• Epileptic Encephalopathy with Psychomotor Retardation
• Motor Automatisms
• Start with Tonic Posturing
• Most Remit by Age 2 Months
• Onset of Seizures at Age 2-8 Days
• Mutation in the KCNQ3 Gene
• Risk of Seizures in Childhood or Adulthood Increased
• Mutation in the Phosphatidylinositol 3 Phosphate 5 Kinase Type 3 Gene
• Speckled Corneal Dystrophy
• Absent Peripapillary Choriocapillaris
• Hypesthetic Cornea
• Low Weight < 3rd Percentile
• Sclerotic Calvarium
• Bony Paranasal Bossing that Often Regresses with Age
• Mutation in the Fibroblast Growth Factor Receptor 2 Gene
• Fusion of Tarsal Bones
• Medially Deviated Broad Great Toes
• 15% Cases Are Familial
• Mean Survival Time: 5 Months
• Mean Age at Onset for Variant CJD is 29 Years
• Mean Age at Onset for Sporadic CJD is 60 Years
• Mutations in the PRNP Gene
• Occasionally Mild Elevation of Cerebrospinal Fluid Protein
• Cerebrospinal Fluid Normal
• Characteristic Periodic EEG Complexes (Sporadic and Familial CJD Not vCJD)
• Brain PrP-Immunoreactive Amyloid Plaques
• Diminished Visual Activity
• Associated with Increased Paternal Age
• Anomalies of Cervical Vertebrae
• Lateral Palatal Swellings
• Exposure Conjunctivitis and/or Keratitis
• Occasional Mental Retardation
• Early Death in Patients with Cloverleaf Skull
• Increased Paternal Age
• Preauricular Skin Furrow
• Prominent Umbilical Stump
• Normal Intrauterine Growth
• Rugose Labia Majora
• Coagulation Defect due to Decreased Liver Function
• Complex III Activity in Liver Tissue Decreased
• Fibrosis On Biopsy
• Poor Postnatal Growth
• Itch Pain and Often Body Malodor
• Acral Hemorrhagic Variant
• Age of Onset 6-20 Years
• Distal V-Shaped Notching
• Longitudinal White or Red Subungual Streaks
• Fingernails Involved More Often than Toenails
• Acrokeratosis Verruciformis-Like Lesions on Dorsum of Hands
• Hemorrhagic Palmar and Plantar Macules
• Keratotic Plaques of Palms
• Odoriferous Hypertrophic Plaques
• Recurrent Parotid Gland Swelling
• See Also Optic Atrophy Type 1 - an Allelic Disorder without Deafness
• Possibly Ophthalmoplegia in Middle-Aged Patients
• Mutation in the OPA1 Gene
• Absent or Decreased Auditory Brainstem Responses
• Asymptomatic Heterozygotes Susceptible to Lead Toxicity
• Urine Delta-Aminolevulinic Acid and Porphyrins Increased
• Erythrocyte Delta Aminolevulinate Dehydratase Deficiency
• Early-Onset Strokes in 43% of Patients
• Complete Penetrance at 30-40 Years of Age
• Death Usually in Sixth Decade of Life
• Adult Onset - Third Decade
• Affected Arteries Show Loss of Smooth Muscle Cells
• Long Perforating Arteries of the Brain Are Affected
• Vasculopathy of the Small Arteries Penetrating the White Matter
• Microbleeds Occur after Age 40 Years
• Lesions in the Internal Capsule after Age 40 Years
• Lacunar Infarcts Develop after Age 40 Years
• Subcortical Lacunar Lesions Seen Early in Disease
• Progressive Subcortical Dementia
• Phenotypic Heterogeneity