32301 to 32400 most common queries

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

• Mucosal PXE Lesions (Inner Aspect of Lower Lip, Cheeks, Palate)
• Mutation in the SLC34A2 Gene
• Possibly Progressive Fibrosis
• Pulmonary Function Tests Show Restrictive Deficit
• Diffuse Bilateral Medial and Basal Lung Involvement
• Intraalveolar Nodular Calcifications ('Microliths')
• Often Fatal in Utero
• Mild Bronchodysplasia
• Pleural Membrane Thickening
• Interstitial Markings On X-Ray
• Episodic Lymphangitis
• Edema Reoccurs with Infections
• Edema Is Present at Birth and Then Slowly Decreases
• Subcutaneous Generalized Edema
• Mild Growth Retardation
• Mutations in the Cathepsin K Gene
• Flattened Nails
• Wrinkled Skin over Dorsa of Fingers
• Narrow Ilia
• Dense Skull
• Susceptibility to Fracture
• Frontal and Occipital Prominence
• Adult Height: <150 cm
• Aplasia of Clavicle
• Abnormal IGFR1 Function
• Number of IGF1 Receptors on Cell Surface Decreased
• Secretion of IGF1 in Response to Growth Hormone Decreased
• Insulin-Like Growth Factor 1 Decreased
• Average Adult Female Height 135 cm
• Average Adult Male Height 142 Cm (4'8")
• Short Stature from Birth
• No Growth Response to Exogenous Growth Hormone
• Mild Supraorbital Hyperplasia
• Thickened Medial Ends of Clavicle
• Responsive to Pyridoxine
• Prenatal or Neonatal Onset
• Mutation in the ALDH7A1 Gene
• Cerebrospinal Fluid and Serum Levels of Pipecolic Acid Increased
• Abnormal Prenatal Movement
• Delayed Psychomotor Development (Mild to Severe)
• Group C: Relatively Benign
• Group B Patients Die by 3 Months of Age
• Can Be Categorized into 3 Groups
• Possibly Responsive to Thiamine
• Onset at Birth or Early Infancy
• Mutation in the PC Gene
• A Subset of Group B Patients Have Absence of PC Protein and mRNA
• Presence of PC-mRNA
• Immunoreactive PC Protein
• Acetoacetate : Beta-Hydroxybutyrate Ratio Increased
• Lactate/Pyruvate Ratio Increased (Group B)
• Intracellular Redox Disturbance
• Lysine Increased
• Pyruvate Carboxylase Activity Decreased
• Cystic Lesions Consistent with Leigh Syndrome
• Mutations in the PKRL Gene
• Erythrocyte Osmotic Fragility Increased
• Severity of Anemia Can Range from Mild to Life Threatening
• Erythrocyte Pyruvate Kinase Activity Decreased
• Frequency of Infections Decreases after 3 Years of Age
• Lewis A and B Negative Cells
• Red Blood Cells Lack H-Antigen
• Bombay Blood Phenotype
• Neutrophilia - Both Basal and during Infections
• Absence of Pus Formation at Site of Infection
• Absent Sialyl-Lewis X Ligand Expression
• Neutrophil Adherence Mildly Decreased
• Neutrophil Motility Markedly Reduced
• Angiokeratomas of Soles
• Telangiectasia (Soles)
• Gingival Biopsy Shows Hyperkeratosis Acanthosis Papillomatosis
• Gingival Fibromatosis
• Fibroepithelial Hyperplasia of Labia Minora
• Death in the First Few Weeks of Life
• Absent Bone Marrow Myeloid Elements
• Absent Humoral Immunity
• Lymphoid Hypoplasia
• Pleocytosis in Cerebrospinal Fluid Especially Lymphocytes
• Reduced T Cell Cytotoxicity
• NK Cell Cytotoxicity Decreased
• Activated HLA DR+ T Cells in Peripheral Blood
• Subependymal Heterotopic Nodules
• Insulin Receptor Binding Decreased
• Sparse Fine Hair
• Ridged Fingernails
• Bilateral Subretinal Masses
• Mutation in the ESCO2 Gene
• Silvery Blonde Scalp Hair
• Nuclear Morphology Abnormal
• Reduction in Number of Toes
• Absence or Reduction in Length of Femur Tibia or Fibula
• Absence or Reduction in Length of Humerus, Radius or Ulna
• Tetraphocomelia
• Hypomelia
• Narrow Naris
• Postnatal Growth Deficiency
• Birth Weight 1.5 - 2.2 kg
• Birth Length Less than 40 cm
• Labia Minora Enlarged
• Epiglottis Absent or Abnormal