31801 to 31900 most common queries

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

• Glycine Decreased to Normal
• PHGDH Activity in Fibroblasts Decreased
• Plasma Serine Decreased - Fasting
• Hypsarrhythmia or Severe Multifocal Epileptic Abnormalities with Poor Background Activity
• Caused by a Defect in Bile Acid Transport
• Bridging Fibrosis Shown on Biopsy
• Biopsy Shows Giant Cell Transformation
• Intracanalicular Cholestasis (Biopsy)
• Caused by Mutations in the Sequestosome 1 Gene
• Allelic to Autosomal Recessive Deafness Type 23
• Beta-Cell Dysfunction of Varying Degrees
• Variable Insulin Resistance
• HLA Class II Alleles Specify Ketosis-Prone Diabetes Subgroup
• Susceptibility Conferred by Mutation in the Paired Box Gene 4
• Autoimmunity to Pancreatic Beta Cells
• Allelic to Spastic Paraplegia Type 13
• Exacerbation during Febrile Episodes
• Usually Fatal in First 2 Decades
• Onset between Birth and 3 Months of Age
• Lactate May Be Increased during Encephalopathic Exacerbations
• Intermittent Increase of Urinary Ethylmalonic Acid
• Hypomyelinating Leukodystrophy
• Abnormal Myelination (MRI)
• No Head Control
• Gamma-GGT Increased
• End Stage Liver Disease before Adulthood
• Portal Fibrosis (Biopsy)
• Severe Hypovolemia
• Mutation in the Eyes Absent Protein 1 Gene
• Hypoplasia of the Cochlea
• Unconnected or Fused Stapes and Incus
• Hyperkeratotic Plaques
• Bilateral Parietal Foramina
• Craniosynostosis - Coronal Lamboid Sagittal
• Large Anterior and Posterior Fontanels
• Pruritus (Major Feature)
• Endocrine Abnormalities Confined to Kidney
• Caused by Mutation in the Syntaxin 16 Gene (STX16)
• Mutation in the GNAS-AS1 Gene
• Symmetric Spastic Diplegia
• Patients of Brazilian Origin Have a Pure Cerebellar Atrophy
• Pentanucleotide Repeat Expansion in the ATXN10 Gene
• Platelet Glycoprotein Ib Decreased
• Absence of Sialyl-Lewis X from Neutrophil Membranes
• Abnormal Platelets with Giant Morphology
• Recurrent Hemorrhagic Events
• Transferrin Isoelectric Profile Normal
• See Also Dominant DEB - an Allelic Disorder with a Similar Phenotype
• Blistering Frequency May Decrease with Age
• Blistering and Erosions on Extensor Surfaces or Over Bony Prominences
• Blisters Are Precipitated by Minor Skin Trauma
• Mutation in the Collagen Type 7 Alpha 1 Gene
• Decreased Staining for Collagen VII
• Hypotrophic Anchoring Fibrils
• Number of Anchoring Fibrils at Dermal-Epidermal Junction Decreased
• Tissue Separation below Lamina densa of Basal Membrane
• Albopapuloid Lesions May Occur
• Lichenified Lesions
• Intense Pruritis
• Recurrent Blistering
• Mutation in the Coiled Coil and C2 Domains Containing Protein 2A
• Mutation in the Solute Carrier Family 34 Member 1 Gene
• Increased Serum 1,25-Dihydroxyvitamin D
• Severe to Profound Prelingual Hearing Loss
• Incomplete Atretic Plate
• Malformed Ossicular Chain
• Near Stenosis of Bony Portion of Auditory Canal
• Severe Narrowing of Cartilagenous Auditory Canal
• Mutation in the Homeobox A2 Gene
• See also Autosomal Dominant Form (176860)
• Occasional Late Onset of Symptoms with Homozygosity
• May be Lethal in Infancy if Untreated
• Mutation in the Protein C Gene
• Intraabdominal Venous Thrombosis
• Slow Progression
• Mean Age of Onset 16 to 19 Years
• Caused by Mutation in the Protein S Gene
• Some Patients Show Rapid Disease Progression
• Onset in Third to Fifth Decade of Life
• Mutation in the PI12 Gene
• Neuronal Inclusion Bodies Stain for Neuroserpin
• Collins Bodies in Neurons of the Cerebral Cortex
• Visuospatial Skills Impaired
• Most Patients Wheelchair-Bound from 2nd-4th Decade of Life
• Mutation in the SGCB Gene
• Skeletal Muscle Shows Decreased Sarcoglycan Proteins
• Skeletal Muscle Shows Dystrophic Changes
• Proximal Muscle Weakness (Limb Girdle)
• Caused by Mutation in the Spatacsin Gene
• Atrophy of the Thenar and Hypothenar Muscles
• Loss of Myelinated Fibers (Nerve Biopsy)
• Peripheral Motor and Distal Sensory Neuropathy
• Allelic to Infantile Sialic Acid Storage Disorder
• Painful Muscle Cramps
• Loss of Peripheral Nerve Axons
• Loss of Dorsal Root Ganglion Cells
• Tetraplegia in Advanced Disease
• Mild Loss of Touch and Temperature
• Hypo or Areflexia
• Allelic to Marshall Syndrome