×
This website uses cookies to ensure you get the best experience on our website.
Privacy
Okay
Any Age
years old
years
Any Age
Newborn
Toddler
Child
Teenager
Adult
Senior
Any Sex
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