30701 to 30800 most common queries

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

• Mutation in the Phospholipase A2 Group VI Gene
• Diminished Social Interaction
• Lewy Bodies in the Substantia Nigra
• Axonal Swellings or Spheroids
• Rarely Onset at Age >30 Years
• Most Have Onset in First or Second Decade
• Bimodal Age of Onset
• Mostly Pure Spastic Paraplegia - sometimes Complicated Spastic Paraplegia
• Muscle Wasting Due to Chronic Denervation
• Peripheral Retinal Pigmentation
• Granular Fundus
• Severe Epiphora
• Progressive Loss of Color Vision
• Allelic to Retinitis Pigmentosa 35
• Neurologic Involvement Not in All Cases
• Mutation in the HAX1 Gene
• Increased Risk of Myelodysplastic Syndrome
• Recurrent Serous Otitis
• Centrally Located Liver
• Caused by Mutation in the Thioredoxin Domain-Containing 3 Gene
• Centrally Located Heart
• Brochiectasis due to Poor Ciliary Clearance
• Respiratory Cilia Have Shortened or Absent Outer Dynein Arms
• Recurrent Respiratory Infections due to Ciliary Dysfunction
• Recurrent Infections due to Ciliary Dysfunction
• Death due to Respiratory Failure or Infection
• Rare Spontaneous Improvement Occurs
• Associated with Smoking
• Usually Adult Onset
• Acquired Autoimmune Disorder
• Pulmonary Function Tests Show Restrictive Ventilatory Defect
• Radiology Suggestive of Pneumonia
• Inspiratory Crackles (50%)
• Accumulation of Surfactant Protein
• Cyanosis (25%)
• Digital Clubbing due to Chronic Hypoxia
• Opportunistic Infections Include Nocardia Asteroides - Mycobacterium Avium Complex
• Secondary Respiratory Infections
• Defective Neutrophil Function
• Defective Macrophage Function
• Favorable Response to Hydroxychloroquine Treatment
• Some Patients May Live to Adulthood
• Viral Respiratory Infection May Trigger Respiratory Distress
• Occurs in Full-Term Newborns
• Highly Variable Pathologic Phenotype
• Intraalveolar Accumulation of Abnormal Pro-SPC Protein
• Decreased or Absent Mature Surfactant C Protein
• Hazy, Ground Glass Interstitial Opacifications (X-Rays)
• Areas of Fibrosis May Develop with Longer Disease Duration
• Nonspecific Cellular Interstitial Pneumonitis
• Most Affected Infants Die in the First Month of Life
• Occurs in Full Term Infants
• Mutation in the ABCA3 Gene
• Surfactant Deficiency
• Interstitial Thickening
• Type 2 Pneumocytes Contain Abnormal Lamellar Bodies
• Type 2 Pneumocyte Hyperplasia
• Respiratory Distress Severe Neonatal
• Possibly Intracellular Accumulation of Material
• Possibly Normal Development until Onset of Disorder
• Rapid Cognitive Decline
• Male-to-Female Ratio = 1.8:1
• Asymptomatic Carriers of inv(8)(p11.2q22)
• Deep Plantar Furrows
• Misshapen Ears
• Wide Face
• Radiographic Studies Show a Single Ossification Center in the Sternum
• Progressive Pectus Excavatum
• Dilated Collecting Tubules
• Genitourinary Anomalies
• Polysaccharide Antibody Response Defect
• Some Patients May Have Isolated Cardiac Involvement
• High Frequency of De Novo Mutations
• Allelic Disorder to Early Onset Sarcoidosis
• Variable Manifestation of Features
• Onset in First 2 Decades of Life
• Mutation in the NOD2 Gene
• Cysts Over Wrist and Ankle Joints
• Skin Biopsy Shows Noncaseating Granulomas
• Granulomatous Synovitis
• Caused by Mutation in the Hamartin Gene (TSC1)
• Mild Upper Limb Spasticity
• Pontine Dysraphia
• May Be Triggered by Increased Practice
• May Be Progressive
• Focal Dystonia - Upper Limb
• Onset at Age 9-16 Years
• Generalized Polyspike-and-Slow-Wave Discharges (4-5 Hz)
• Noonan-Like Facies in a Minority of Patients
• Some Patients Do Not Have Dysmorphic Features
• Phenotypic Overlap with Neurofibromatosis Type 1
• No Neurofibromas
• Irregularly Placed Dentition
• Delayed Eruption of Deciduous Tooth
• Absence of the Olfactory Bulbs
• Bright Blue Eyes
• Absence of the Cochlear Nerves
• Caused by Mutation in the Sry Box 10 Gene (SOX10 602229-0005)
• Dilatation of the Vestibule
• Vestibular Malformation