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33701 to 33800 most common queries

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Allelic Disorder to Potassium-Aggravated Myotonia Acetazolamide Often Effective Hyperkalemia during Attacks Myopathic Findings on Biopsy Have Been Occasionally Reported Myotonia Is Present in Majority of Cases Attacks Precipitated by Potassium Attacks Precipitated by Cold Temperature Attacks Precipitated by Rest after Exercise Muscle Weakness, Predominantly of Extremities and Tongue Episodic Weakness or Flaccid Paralysis Mutation in the CTSC Gene No Palmoplantar Keratosis Swollen Achromatic Cells (Pick Cells) Argyrophilic Hyperphosphorylated Tau-Positive Inclusions - Pick Bodies Atrophy Possibly More Severe in Left Hemisphere Frontotemporal Lobar Atrophy with Knife Edge Distinction Majority of Cases Are Sporadic - Often in Tall Thin Men Mutation in the Folliculin Gene Subpleural Blebs Telangiectases Persist in Adulthood Caused by Mutations in the Kindlin 1 Gene (KIND1) Diffuse Skin Wrinkling (Especially Dorsa of Hands and Feet) Telangiectases in Sun-Exposed and Non-Exposed Skin Diffuse Skin Atrophy (Especially Dorsa of Hands and Feet) Neonatal Acral Blistering Pseudoainhum of Toes Digital Webbing Autosomal Dominant Inheritance Reported Occurs on Right Side in 75% of Cases All Features Are Unilateral Hypoplasia of Supraspinatus Muscle Hypoplasia of Infraspinatus Muscle Unilateral Syndactyly Unilateral Absence of Breast Unilateral Hypoplasia or Absence of Areola Unilateral Hypoplasia or Absence of Nipple Unilateral Hypoplasia or Absence of Pectoralis Major Muscle Rarely Compression of Inferior Vena Cava and Secondary Edema Lower Total Cholesterol Total Bilirubin Increase May Occur Slightly Increased Alkaline Phosphatase May Occur Back Pain due to Mass Effect of Liver Early Satiety due to Mass Effect of Liver Rare Obstruction of Hepatic Venous Outflow (Ascites) Rarely Rupture of Cysts Rare Infection of Cysts Rare Hemorrhage from Cysts Cysts of Biliary Epithelial Origin Multiple Fluid-Filled Cysts throughout the Liver No Evidence of Renal Cysts Absence of Cerebral Aneurysms Cranial Foramen Impingement Spots in 95% of Patients Mutations in the Serine-Threonine Protein Kinase 11 Gene Hyperpigmented Macules of Buccal Mucosa Hyperpigmented Macules of Lips Recurrent Colicky Abdominal Pain Hamartomatous Polyps - Stomach to Rectum Gynecomastia with Sertoli Cell Tumors Typical Onset in Adulthood Diminution of Sense of Taste Gastrointestinal Hamartomatous Polyps Decreased Penetrance Neuropsychologic Cognitive Abnormalities PBG Deaminase Deficiency Possibly Clinically Asymptomatic (90%) Attacks More Common in Women Acute Attacks Rarely Occur before Puberty Urine Occasionally Port Wine in Color Secondary to Porphobilinogen During Acute Attacks, Urine δ-ALA and PBG Increased Erythrocyte Porphobilinogen Deaminase Deficiency Motor Sensory or Autonomic Neuropathy More Common in Men than Women Most Common Form of Porphyria Liver and Red Cell Uroporphyrinogen Decarboxylase Reduced Incidence of Hepatocellular Carcinoma Increased Skin Manifestation Less Frequently Observed in Cold Climates Attacks Often Drug-Induced Protoporphyrinogen Oxidase Activity Decreased (50%) Increased Urine Porphyrins At Times Fecal Protoporphyrin and Coproporphyrin Increased Cone-Shaped Epiphyses (2nd-4th) Normal Tarsal Bones Absent Fifth Metatarsal Absent 5th Phalanges Lunate Triquetral Fusion Aplasia of the 5th Metacarpal Partial Complete Absence of 5th Phalanges Normal Ulnae Mild Radial Bowing Distinct from Premature Centromere Division Possible Increase of Aneuploidy in Offspring Fertility Reduced Affected Females May Have Increased Spontaneous Abortions Individuals with the PCS Trait Are Phenotypically Normal Shortened Metaphase PCS Involves Most of All Chromosomes of a Metaphase Bifid Sacrum Hemisacrum S2-S5 Preserved Vertebra S1 Perianal Abscess or Sepsis