32801 to 32900 most common queries

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

• Mutation in the NKX2E Gene
• Free T3 : Free T4 Decreased
• Hypoplastic Thyroid Gland
• Mutation in the Procollagen-Lysine, 2-Oxoglutarate 5-Dioxygenase Gene
• Partial Cleft Lip
• Partially Congenital Absence of Skin
• Mucosal Lesions
• Severe Atrophic Scarring
• Anemia due to Poor Nutrition
• Digital Fusion
• Lingual Adhesions
• Oral Blisters
• Anal Blisters
• Esophageal Blisters
• Poor Growth due to Poor Nutrition
• See Also the Non-Herlitz Type of JEB - a Less Severe Disorder
• Rare Survival to Teens
• Often Lethal in Infancy
• Lesions Apparent at Birth
• Caused by Mutation in the Laminin Gamma-2 Gene
• Caused by Mutation in the Laminin Beta-3 Gene
• Hemidesmosomal Abnormalities
• Absence of Immunostaining to Laminin 5 Subunits
• Skin Cleavage in the Lamina Lucida
• Perinasal or Perioral Nonhealing Crusting of the Skin
• Severe Bullous Blistering Lesions
• Syndactyly Does Not Occur
• See Also EB Simplex with Pyloric Atresia
• Caused by Mutation in the Integrin Alpha 6 Gene
• Mutation in the ITGB4 Gene
• Cleavage within the Lamina Lucida
• Stenosis at the Ureterovesical Junctions
• Urethrovesical Occlusion
• Intrathoracic Stomach
• Heterozygotes Usually Asymptomatic
• Prolonged Bleeding
• Bleeding Episodes (Epistaxis, Menorrhagia, Ecchymosis)
• Sorbitol and Glycerol Intolerance
• Episodes Triggered by Fasting Illness Fever
• Onset in Newborns or Infants
• Mutation in the FBP1 Gene
• FBP1 Enzyme Activity Decreased
• Increased Urinary Glycerol
• Distinct Disorder from Galactosemia
• Caused by Mutation in the Galactokinase 1 Gene
• Galactokinase Activity Decreased
• Patients with Later Onset Have Better Prognosis
• Caused by Mutation in the Alpha-1,4-Glucosidase Gene
• Abnormal Brain Myelination
• Mutation in the RAG1 Gene
• Residual RAG1 and RAG2 Activity
• Defective T Cell Function
• Number of T Cells Decreased
• Number of B Cells Decreased
• Lack of Thymus on Ultrasound
• Granulomas on Skin or Tongue, in Lungs or other Tissues
• Non-Infectious Granulomas
• See Also Facial Hemihypertrophy
• May Be due to Imprinting Defect
• Hemihyperplasia of Hands
• Hemihyperplasia of Limbs
• Increased Risk of Wilms Tumor
• Increased Risk for Embryonal Tumors
• Isolated Asymmetric Growth Involving 1 or More Body Parts
• Displaced Nipple Due to Chest Asymmetry
• Mutation in the AKR1D1 Gene
• Liver Failure before Adulthood
• Giant Cell Transformation on Biopsy
• Can be Effectively Treated with N-Carbamylglutamate
• Variable Phenotype Depending on Residual Enzyme Activity
• Urine Orotic Acid Normal
• Glutamine Increased
• Neurobehavioral Changes Associated with Hyperammonemia
• Prevalence in the French-Canadian Population Increased
• Onset in First Months or Years of Life
• Coagulopathy due to Liver Dysfunction
• Homocitrullinuria
• Subcortical White Matter Abnormalities
• Buccolingofacial Dyspraxia
• Episodic Confusion
• Caused by Mutation in the Proline Dehydrogenase Gene
• Susceptibility to Schizophrenia Increased
• Variable Frequency and Severity
• Episodic Intrahepatic Cholestasis
• Severe Eczema
• Impaired T Cell Immunity
• Recurrent Staphylococcus Aureus Infections
• Long Columella
• Coloboma - Iris and Retina
• Heterotopic Kidney
• Contiguous Gene Syndrome due to Deletion of the LIS1 Gene
• Caused by Mutation in the Claudin 19 Gene
• Incomplete Distal Renal Tubular Acidosis
• Hypercalciuria and/or Nephrolithiasis in Heterozygotes
• Caused by Mutation in the Claudin 16 Gene (CLDN16 603959-0001)
• Abacterial Leukocyturia
• Mutation in the MANBA Gene
• Disease Course Depends on Age at Onset
• Variable Age at Onset - Infant to Adult
• Mutation in the PSAP Gene