Disease Comparison Results (show all mode) for Fabry disease crisis/syndrome and Pitt syndrome (4p16.3)

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Pitt syndrome (4p16.3)

Found: 45 | Differences: 37

Fabry disease crisis/syndrome

Found: 62 | Differences: 54

Fabry disease crisis/syndrome and Pitt syndrome (4p16.3) sharing 8 common findings. (show all, show common, show differences)

Clinical Manifestations
Signs & Symptoms
Particular physiognomy/Odd looking kids
Craniofacial Abnormalities/Congenital
Facies particular
Poor weight gain/child
Mental Deficiency Child
Seizures
Dysmorphic dwarfism/short stature
Dysmorphic appearance/face
Short stature
Short stature Child
Clinical Presentation & Variations
Presentation/Multiple deformities newborn (odd look)
Disease Progression
Course/Chronic disorder
Course/Chronic only
Demographics & Risk Factors
Population Group
Child
Population/Pediatrics population
Sex & Age Groups
Population/Child
Population/Child-Infant Only
Population/Children/all
Laboratory Tests
Abnormal Lab Findings (Non Measured)
DNATest specific/genetics laboratory/abnormality (Lab)
Specific Single Nucleotide Polymorphism/SNIP genome type
Associated Diseases & Rule outs
Associated Disease & Complications
Dwarfism
Fetal anomaly
Growth retardation/failure
Hypertelorism/Wide Spaced Eyes
Mental retardation
Nanism/dwarfism
Disease Mechanism & Classification
Class
CLASS/Pediatric disorders (ex)
Pathophysiology
Pathophysiology/Chromosome 4 deletion short arm (4p-)
Pathophysiology/Chromosome 4/Monosomy short arm p/partial
Pathophysiology/Chromosome gene/segment deletion (ex)
Pathophysiology/Gene locus/Chromosome 4
Pathophysiology/Genomic indentifiers (polymorphism/snip/mutations)
Pathophysiology/Maternal Chromosome mutation
Process
PROCESS/Chromosomal disorder (ex)
PROCESS/Congenital/developmental (category)
PROCESS/Eponymic (category)
PROCESS/Eponymic/Esoteric/Not yet integrated into database
PROCESS/Genetic disorder/Spontaneous mutations/sporadic
PROCESS/Hereditary Multiple anomalies syndrome [EX]
PROCESS/Hereditofamilial (category)
PROCESS/INCIDENCE/Esoteric disease (example)
PROCESS/INCIDENCE/Extremely rare disease
PROCESS/Dystostosis/craniofacial (ex)
Synonyms
Synonym
Synonym/4p- syndrome, partial
Synonym/Wolf-Hirschorn chromosome region deletion
Clinical Manifestations
Signs & Symptoms
High blood pressure child
High blood pressure/sign
Acute abdomen with no signs
Acroparesthesias Acral Paresthesias
Finger Pain
Pain in Extremities/Melalgias
Painful hands and feet
Painful/finger tips
Loss of pain of temperature sensation
Moro Reflex unilateral Abnormal
Stroke Syndrome Child
Stroke Syndrome/Hereditary Disease
Uhthoff phenomenon Heat-trigger Weakness
Acutely ill patient/signs
Constitutional symptoms
Episodic symptoms/events
Fever in kids
Heat intolerance/Warm all the time
Spells/Episodes of weakness
Typical Clinical Presentation
Stroke syndrome kids/metabolic causes
Clinical Presentation & Variations
Presentation/Non diabetic Ketoacidosis Kids infants
Presentation/Painful peripheral neuropathy Boys Recurrent
Disease Progression
Course/Acute
Course/Acute only
Course/Chronic disease crisis/flare/attacks
Demographics & Risk Factors
Established Disease Population
Patient/Fabrys disease
Population Group
Child
Population/Pediatrics population
Young Adult
Sex & Age Groups
Population/Adult/all
Population/Boy patient
Population/Child
Population/Child-Infant Only
Population/Children/all
Population/Male
Population/Young adult
Associated Diseases & Rule outs
Associated Disease & Complications
Fabry disease crisis/syndrome
Hypertension in a child
Painful neuropathy
Peripheral neuropathy
Polyneuritis
Sensory neuropathy
Stroke /Young adult
Stroke/Child
Polyneuropathy
Disease Synergy
Synergy/Fever
Synergy/Heat stress
Disease Mechanism & Classification
Class
CLASS/Pediatric disorders (ex)
CLASS/Vasculopathy disorder (ex).
Pathophysiology
Pathophysiology/Gene locus Chromosome X.
Pathophysiology/Genomic indentifiers (polymorphism/snip/mutations)
Pathophysiology/Lysosome storage disorder (ex)
Pathophysiology/Hereditary deafness
Process
PROCESS/Hereditofamilial (category)
PROCESS/Metabolic/storage disorder (category)
PROCESS/Sex-linked (X-linked) recessive inheritance (ex)
Synonyms
Synonym
Synonym/GLA Deficiency (Fabry)
Synonym/Thesaurismosis hereditaria lipidica (Fabry)
Synonym/Thesaurismosis lipoidica (Fabry)
Treatment
Drug Therapy
RX/Directed Enzyme Replacement
Other Treatments
TX/Medical emergency
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