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

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Fucosidosis (Anderson-Fabry)

Found: 176 | Differences: 175

Black hellebore herbal/intake

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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