38401 to 38500 most common queries

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

• Untreated Neutropenia Facilitates Severe Infections
• Presentation at 3-6 Weeks of Age
• Unsaturated Cobalamin Binding Capacity Reduced
• Majority of Cases from Middle Eastern Countries
• Lipid Droplets in Basal Keratinocytes
• Lipid Droplets in Granulocytes
• Unusual Cabbage-Like Odor
• Abnormal Blood Coagulation Studies (Prolonged PT and PTT)
• Urine Delta-Aminolevulinic Acid Elevated
• Hepatic Transaminases Increased
• Plasma and Urine Succinylacetone Increased
• Deficient Hepatic 4 Hydroxyphenylpyruvate Dioxygenase
• Fumarylacetoacetate Hydrolase Deficiency
• Mutation in the 4-Hydroxyphenylpyruvate-Dioxygenase Gene
• 4-Hydroxyphenylacetic Aciduria
• 4-Hydroxyphenyllactic Aciduria
• 4-Hydroxyphenylpyruvic Aciduria
• 4-Hydroxyphenylpyruvic Acid Dioxygenase Deficiency
• Liver Function Normal
• Aplasia or Hypoplasia of the Phalanges of the Hand
• Bowed Short Femora
• Long Ear
• Vestibular Function Absent
• Accounts for 70% of All Cases of Usher Syndrome
• Caused by Mutation in the Usherin Gene
• Normal Vestibular Response
• USH3 Cases Account for 40% of all Usher Patients in Finland
• Caused by Mutation in the CLRN1 Gene
• Reduction of Central Visual Acuity
• Progressive Restriction of Visual Feilds
• Variable Vestibular Dysfunction
• First Described in Acadian Population of Louisiana
• Caused by Mutation in the 73 kD PDZ Domain Containing Protein
• Progressive Prepubertal Onset Retinitis Pigmentosa
• Profound Congenital Sensorineural Hearing Loss
• Preaxial or Postaxial Polydactyly
• Sublingual Nodules
• Lobed Tongue
• Intraoral Frenula
• See Also CblC
• Responsive to Vitamin B12
• Reticulate Pigmented Skin Abnormalities
• Free Cyanocobalamin in Fibroblasts Increased
• Activity of Methionine Synthase Decreased
• Activity of Methylmalonyl CoA Mutase Decreased
• See Also CblD
• Variable Response to Vitamin B12 Therapy
• Early Onset: More Severe Course and Early Death
• Onset Usually in First Year of Life
• Cobalamin Decreased in Liver, Kidney, and Cultured Fibroblasts
• Cobalamin Normal
• Large, Floppy Ears
• Thrombotic Microangiopathic Nephropathy
• Extrapyramidal Symptoms - Later Onset
• Confusion - Later Onset
• Decreased Cognition (Later Onset)
• Acute Neurologic Decompensation
• 'Variant 2' Has Isolated Methylmalonicaciduria and Decreased AdoCbl
• Cobalamin Normal or Mildly Reduced
• Methylcobalamin Decreased
• Adenosylcobalamin Decreased
• Methionine Decreased
• Caused by Mutations in the Vitamin D Receptor Gene
• Eyelashes May Be Spared
• Alopecia Appears within 12 Months of Age and Is Permanent
• Cysts Are Similar to Those Seen in 'Atrichia with Papular Lesions'
• Follicular Remnants in Cysts
• Absence of Normal Hair Follicles
• Cutaneous 0.5 to 1.0 cm Bluish and Flesh-Colored Papules
• Resistance to 1,25-Dihydroxyvitamin D3
• Subperiosteal Erosions due to Secondary Hyperparathyroidism
• Dental Caries by Age 2 Years
• Protuberant Abdomen due to Muscle Weakness
• 'Bulging' of the Costochondral Junction
• Death in Childhood May Occur
• Restlessness at Birth
• Mutation in the SOX10 Gene
• Caused by Mutation in the Endothelin-3 Gene
• A Subset of Patients Have Neurologic Abnormalities
• Coarse, Low-Pitched Voice
• Thin Deep Set Nails
• Prominent Toe Pads
• Flared Metaphyses - Especially Distal Femora and Humeri
• Dysharmonic Bone Age (Carpals More Advanced than Phalanges)
• Round Face in Infancy
• Weight More Increased than Height
• Prenatal or Postnatal Weight Increased
• Prenatal or Postnatal Length Increased
• Phenotypically Similar Autosomal Dominant Form:
• Rhizomelic Limb Shortening
• Broad Iliac Wings
• Bulbous Deformity of Ischial and Pubic Bone
• Normal Adult Height
• Thin, Sparse, Gray Hair
• Poor Mitogenic Response to Growth Factors
• Variegated Translocation Mosaicism in Cultured Fibroblasts
• Slender Limbs
• Osteosarcoma and Meningioma
• Malignancy in Approximately 10%
• Stocky Trunk