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Disease Comparison Results (show differences mode) for Black hellebore herbal/intake and Fucosidosis (Anderson-Fabry)

Clinical
Demographics
Lab
Diagnostic
Diseases
Classification
Synonyms
Treatment
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Found: 176 | Differences: 175

Found: 44 | Differences: 43

Black hellebore herbal/intake and Fucosidosis (Anderson-Fabry) sharing one common finding. (show all, show common, show differences)

Clinical Manifestations
Signs & Symptoms: Particular physiognomy/Odd looking kids; Craniofacial Abnormalities/Congenital; Facies particular; Gargoylism-type facies; Acrocyanosis/Cyanosis extremities; Cardiomegaly/Heart dilatation; Angiokeratosis/skin; Coarsening skin; Excess Sweating Children; Hyperhidrosis/Chronic sweating excess; Sweating Excess Perspiration; Sweating infant syndrome; Anorexia in Infant; Failure to Thrive; Failure to Thrive Child; Failure to thrive/infant sign; Feeding/Apetite Problems Child; Poor weight gain/child; Weight loss in Children; Large tongue/macroglossia; Hepatosplenomegaly; Palpable Liver/Hepatomegaly; Hypotonia; Muscle spasticity; Muscle weakness; Decerebrate posture; Delayed speech/language development; Development Motor Skills (Milestones) Delayed; Developmental milestones delayed; Dystonia; Dystonia, acquired; Idiocy/signs; Intellectual Decline Children; Mental Deficiency Child; Odd body posturing; Psychomotor regression/infant/child; Seizures; Slow Motor Development; Recurrent chest infections/bronchitis/sign; Psychomotor retardation; Snoring; Splenomegaly; Coarsened facial features; Short stature; Short stature Child; Weakness; Weight Loss
Typical Clinical Presentation: Presentation/Death in childhood
Clinical Presentation & Variations: Presentation/Multiple deformities newborn (odd look); Presentation/Mental Retardation Progressive
Disease Progression: Course/Chronic disorder; Course/Chronic only; Course/Lethal possible/not usual; Onset 10 to 18 months; Onset infancy/worst variant

Demographics & Risk Factors
Ethnic or Racial Factors: Italian population/ethnic
Population Group: Child; Infant; Population/Pediatrics population
Family History: Family history/Childhood CNS degenerating disease/death; Family history/Dementia; Family history/Nerve disease; Family history/Skeletal malformations
Sex & Age Groups: Population/Child; Population/Child-Infant Only; Population/Children/all; Population/Infant; Population/Male

Laboratory Tests
Abnormal Lab Findings (Non Measured): Alpha-fucosidase decreased/serum (Lab); Chromosomal abnormality (Lab); Cultured fibroblast enzyme assay abnormal (Lab); Cultured Fibroblasts/Alpha-Fucosidase enzyme deficient (Lab); Enzyme Assay plasma/tissue/fibroblast abnormal; Hypoelectrolytemia; WBC/Alpha-fucosidase assay/deficient (Lab)
Abnormal Lab Findings: SWEAT Chloride; SWEAT Sodium; Fucose (Lab); SALIVA Sodium

Diagnostic Test Results
Other Tests & Procedures: TEST/Sweat test abnormal
Pathology: PATH/Incidental myocardial involvement; BX/Skin biopsy/eosinophilic material/above dermis; BX/Skin fibroblasts enzyme assay abnormal; BX/Liver biopsy/Balloon/pseudogargoyl cells; PATH/Cerebral demyelination/biopsy/path; PATH/Visceromegaly
CT Scan: CT Scan/Head Cerebral/Cerebellar atrophy; MRI/Head Brain Abnormal; MRI/Head Cerebellar atrophy; MRI/Head Cerebral/Cerebellar atrophy; MRI/Head Low T2 intensity/basal ganglia; MRI/Head Scan Abnormal
X-RAY: Xray/Large heart shadow/Chest; Xray/Beaking anterior vertebrae; Xray/Dysostosis multiplex findings; Xray/Frontal bossing, infant/Skull; Xray/Parietal bossing/Skull
X-RAY With contrast: GBS/Non-visualization of gallbladder (Xray)

Associated Diseases & Rule outs
Associated Disease & Complications - Rule Outs: Hurler's mucopolysaccharidosis syndrome; Myocarditis, viral
Associated Disease & Complications - Causes: Amyotrophy/secondary; Brachycephaly; Cachexia/inanition/wasting; Carpal tunnel syndrome; Cholelithiasis; Convulsions (grand mal); Dementia; Developmental neurologic degeneration/child; Dwarfism; Dysostosis multiplex; Electrolyte imbalance; Fucosidosis; Growth retardation/failure; Hyponatremia; Joint contractures; Kyphosis; Lower respiratory infection; Mental retardation; Multiple Congenital Anomalies; Multiple congenital anomalies/Mental retardation; Myocarditis; Myocarditis, acute; Neurodevelopmental disorders; Skeletal dysplasia; Skeletal/bone malformations; Vertebral/Spinal hypoplasia; Heart Failure in a Child

Disease Mechanism & Classification
Class: CLASS/Jablonski/NIH Archive Anomalies Database; CLASS/Pediatric disorders (ex)
Pathophysiology: Pathophysiology/22 mutations of gene locus identified; Pathophysiology/Alpha-1-fucosidase deficiency; Pathophysiology/Alpha-L-fucosidase deficiency; Pathophysiology/Fucose accumulation/tissue/effect; Pathophysiology/Fucose-glycosphinglipids/glycoprotein accumulate; Pathophysiology/Gene locus 1p36; Pathophysiology/Gene locus 1p36.1; Pathophysiology/Gene locus 1p36.1-p34.1; Pathophysiology/Gene locus Chromosome 1; Pathophysiology/Gene locus Chromosome 1 (1p24); Pathophysiology/Gene locus Chromosome X.; Pathophysiology/Gene Locus Identified/OMIM database; Pathophysiology/Genomic indentifiers (polymorphism/snip/mutations); Pathophysiology/Juvenile disease milder than infantile; Pathophysiology/Lysosome storage disorder (ex); Pathophysiology/Nonsense mutations seen; Pathophysiology/Specific lipid accumulation tissues; Pathophysiology/Subset juvenile form/variant occurs; Pathophysiology/salivary gland involvement; Pathophysiology/Hereditary disease renal effect; Pathophysiology/Maternal Chromosome mutation
Process: PROCESS/Autosomal recessive disorder (ex); PROCESS/Disease with many subtypes (ex); PROCESS/Enzyme defect/Metabolic disorder (ex); PROCESS/Genetic disorder/Spontaneous mutations/sporadic; PROCESS/Genetic expressivity variable (ex); PROCESS/Hereditofamilial (category); PROCESS/INCIDENCE/Extremely rare disease; PROCESS/INCIDENCE/Rare disease (ex); PROCESS/Lipidosis/storage disorder (ex); PROCESS/Metabolic/storage disorder (category); PROCESS/Sex-linked (X-linked) recessive inheritance (ex); PROCESS/Storage disorder (ex); PROCESS/Two/multiple subsets/disease pattern; PROCESS/Developmental degenerative neurological disorder (ex); PROCESS/Dystostosis/craniofacial (ex)

Synonyms
Synonym: Synonym/Alpha-fucosidosis; Synonym/Alpha-fucosidosis type 1 and type 2; Synonym/Alpha-L-fucosidase (FUCA) deficiency; Synonym/Anderson-Fabry disease; Synonym/Angiokeratoma corporis diffusa/fucosidosis; Synonym/Mucopolysaccharidosis F

Treatment
Other Treatments: TX/Constitutional/No definitive treatment

Clinical Manifestations
Signs & Symptoms: Dizzy on Standing/Giddy Response; Orthostatic drop in blood pressure; Cold clammy skin; Abdominal Pain; Abdominal Pain Crampy; Bloody diarrhea; Diarrhea; Diarrhea, explosive; Diarrhea, fulminant; Nausea; Stool color/appearance abnormal; Vomiting; Mouth/tongue/lips burning pain; Palate edema/Soft palate; Palate Erythema/Soft Palate; Pharyngeal edema/throat swelling; Cold clammy pale status; Collapse/Prostration
Disease Progression: Course/Acute; Course/Acute only

Laboratory Tests
Abnormal Lab Findings: STOOL Erythrocytes/RBCs

Associated Diseases & Rule outs
Associated Disease & Complications: Acute gastroenteritis; Cardiac arrest; Chemical/caustic oral burn; Chemical/toxic stomatitis; Dehydration; Enteritis, secondary; Gastritis, erosive/corrosive; Hypovolemia; Orthostatic syncope Hypotension; Toxic Enteritis/Corrosive mucositis/hemorrhagic

Disease Mechanism & Classification
Pathophysiology: Pathophysiology/Blood volume/decrease/low; Pathophysiology/Cardiac Stroke volume decreased
Process: PROCESS/Poison/specific (category)
Toxin: TOXIN/ Delay/Slow curve fast break/hours; TOXIN/Contains Helleborein/Hellebrin/Protoamemonie; TOXIN/Contains Saponins alkaloids; TOXIN/Lethal possible; TOXIN/Onset 30 minutes; TOXIN/Plant Circulatory collapse toxin; TOXIN/Poison/Botanical/alkaloids/plant toxins (category)

Synonyms
Synonym: Herbal name Helleborus niger; Herbal synonym Christmas rose

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