×
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
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