Risk Factors
Clinical
Lab
Diagnostic
Diseases
Classification
Treatment

Disease Comparison Results (show all mode) For:

Start Over

Marfan's syndrome

Found: 112 | Differences: 102

Alpha 1 antitrypsin deficiency

Found: 81 | Differences: 71

Alpha 1 antitrypsin deficiency and Marfan's syndrome sharing 10 common findings. ( show all, show common, show differences)

Demographics & Risk Factors
- Population Group
  - Population/Pediatrics population
- Family History
  - Family history/Aortic aneurysm
  - Family history/Heart disease
  - Family history/Skeletal malformations
- Event, Activity, Behavioral & Seasonal Factors
  - Activity/Sports/athletic competition/contact event
- Sex & Age Groups
  - Population/Child
  - Population/Children/all
Clinical Manifestations
- Typical Clinical Presentation
  - Presentation/Non diabetic ketoacidosis kids/infants
  - Stroke syndrome kids/metabolic causes
- Disease Progression
  - Course/Chronic disorder
  - Course/Chronic only
- Signs & Symptoms
  - Heart murmur
  - Right-sided parasternal AI murmur radiation
  - High arched palate
  - Hyperextensible digits
  - Long arms
  - Long legs
  - Decreased AP diameter/chest
  - Flat AP chest diameter/sign
  - Arms carried out from body/abducted
  - Arms too long for body
  - Cubitus valgus/sign
  - Genu valgus/knockneed/sign
  - High arches/foot/sign
  - Hyperextensible joints/laxity/instability
  - Long thin fingers/toes (arachnodactyly)
  - Marfans thumb/little finger-wrist sign
  - Marfans thumb/palm sign
  - Pubis-heel distance/more than half height
  - Sternum deformities
  - Tall child
  - Tips fingers distance (span) more than height
  - Toeing In/Child
  - Child
  - Dysmorphic appearance/face
  - Ectomorph habitus
  - Tall patient
  - Tall/thin habitus/long body/Marfanoid
  - Blue sclera sign
  - Iridodonesis/Iris trembling sign
  - Visual symptoms
Laboratory Tests
- Abnormal Lab Findings (Non Measured)
  - DNA/Test specific/genetics laboratory/abnormality (Lab)
Diagnostic Test Results
- CT Scan
  - CT/Dexa-Scan Bone density Abnormal
- X-RAY
  - Xray/Aorta/ectasia ascending/knob dilated/Chest
  - Xray/Chest abnormal
  - Xray/Chest/Lung fields/Abnormal
  - Xray/Long index fingers
  - Xray/Ribs inferior bone resorption
  - Xray/Ribs, notching margins
Associated Diseases & Rule outs
- Associated Disease & Complications - Rule Outs
  - Ehlers-Danlos syndrome
  - Homocystinuria/homocystinemia
- Associated Disease & Complications - Causes
  - Aneurysm, pulmonary artery
  - Aorta cystic medial necrosis/degeneration
  - Aorta rupture, thoracic spontaneous
  - Aorta, rupture, traumatic
  - Aortic dilatation/ectasia
  - Aortic regurgitation
  - Aortic rupture, spontaneous
  - Aortic stenosis, supravalvular
  - Atlanto/axial injury
  - Atlanto/odontoid dislocation/fracture
  - Blindness
  - Blindness in Children
  - Carotid artery dissection/aneurysm
  - Cataract
  - Congenital heart disease
  - Death/Sudden death
  - Dissecting aortic aneurysm
  - Flat feet/pes planus
  - Glaucoma
  - Hand anomalies
  - Kyphoscoliosis
  - Lateral scoliosis/Rotosclerosis
  - Lens dislocation
  - Lens dislocation, acquired
  - Lens subluxation
  - Male osteoporosis syndrome
  - Malrotation/colon, congenital
  - Marfans syndrome
  - Mitral regurgitation
  - Mitral valve prolapse syndrome
  - Myopia
  - Osteoporosis/osteopenia
  - Pathologic fractures
  - Pectus carinatum/pigeon chest
  - Pectus excavatum
  - Pes cavus
  - Pulmonic valve, regurgitation
  - Retina detachment
  - Scoliosis
  - Stroke Syndromes/Atypical causes
  - Sudden death/Child
  - Thoracic aneurysm/dilated aorta/ectasia
  - Valvular heart disease
Disease Mechanism & Classification
- Class
  - CLASS/Skeletal (category)
  - CLASS/Connective tissue/Mesenchyme matrix disorder
  - CLASS/Lens involvement/disorder (ex)
- Pathophysiology
  - Pathophysiology/Gene locus 15q21.1
  - Pathophysiology/Gene locus Chromosome 15
  - Pathophysiology/Gene Locus Identified/OMIM database
  - Pathophysiology/Genomic indentifiers (polymorphism/snip/mutations)
  - Pathophysiology/Mutations fibrillin-1 gene/FBN1
  - Pathophysiology/Myxomatous degeneration heart valve
  - Pathophysiology/Fibrillin-1 protein defect/connective tissue
  - Pathophysiology/FBN1 gene
- Process
  - PROCESS/Autosomal dominant hereditary disease (ex).
  - PROCESS/Eponymic (category)
  - PROCESS/Genetic disorder/Spontaneous mutations/sporadic
  - PROCESS/Hereditary dominance/incomplete penetrance (ex).
  - PROCESS/Hereditofamilial (category)
  - PROCESS/Multiple dysmorphic syndrome (ex)
Treatment
- Drug Therapy
  - RX/Losartan (Cozaar)

Demographics & Risk Factors
- Population Group
  - Population/Pediatrics population
- Family History
  - Family history/Liver disease
  - Family history/Lung disease
  - Family history/Lung disease/unusual type
  - Family history/Parental consanguinity
- Sex & Age Groups
  - Population/Adult/all
  - Population/Adult-Aged Only
  - Population/Child
  - Population/Children/all
  - Population/Fifties adult
  - Population/Middle-aged adult
Clinical Manifestations
- Typical Clinical Presentation
  - Presentation/Childhood cirrhosis/liver disease
  - Presentation/Cirrhosis/emphysema combined
  - Presentation/Cirrhosis/non-alcoholic
  - Presentation/Emphysema/young
  - Presentation/Liver/lung disease in young person
- Disease Progression
  - Course/Chronic disorder
  - Course/Chronic only
- Signs & Symptoms
  - Choluria/Biliuria in Children
  - Choluria/Biliuria in Elderly
  - Hepatomegaly
  - Jaundice of newborn
  - Bronchospasm signs
  - Lung signs/abnormality
  - Rales
  - Wheezing
  - Wheezing in Elderly
  - Child
Laboratory Tests
- Abnormal Lab Findings (Non Measured)
  - Anti-elastase low serum level (Lab)
  - Chromosomal/Karyotype analysis abnormality (Lab)
  - Protein electrophoresis/serum (SEP/SPE)abnormal (Lab)
- Abnormal Lab Findings - Decreased
  - Alpha globulin, serum (Lab)
  - Alpha-1-antitrypsin globulin level (Lab)
- Abnormal Lab Findings - Increased
  - Bilirubin, serum (Lab)
  - Direct bilirubin (Lab)
Diagnostic Test Results
- Other Tests & Procedures
  - Gastroscopy/Esophageal varices
  - PFT/Abnormal pulmonary function tests
- Pathology
  - BX/Liver biopsy/Bile ducts/inspissated mucus/material
  - BX/Liver biopsy/Diagnostic
  - BX/Liver biopsy/PAS positive inclusion bodies/hepatocyte
  - BX/Liver/Diastase resistant PAS/inclusion bodies
- X-RAY
  - Xray/Chest abnormal
  - Xray/Chest/Lung fields/Abnormal
  - Xray/Hyperaeration/lung/Chest
  - Xray/Hypovascular lung bases/Chest
  - Xray/Infiltrate, pulmonary/Chest
  - Xray/Lower lung disease/bases
- X-RAY With contrast
  - UGI/Esophageal varices
Associated Diseases & Rule outs
- Associated Disease & Complications - Rule Outs
  - Hepatic vein thrombosis (Budd-Chiari)
  - Primary biliary cirrhosis
- Associated Disease & Complications - Causes
  - Bronchiectasis
  - Bullous Emphysema Syndrome
  - Carcinoma, hepatocellular
  - Cholestasis/intrahepatic biliary obstruction
  - Cholestatic Jaundice Syndrome
  - Chronic hepatitis/Active
  - Chronic liver disease
  - Cirrhosis
  - Cirrhosis/complication/secondary
  - Emphysema/COPD/Chronic lung disease
  - Esophageal varices
  - Lung cystic disease/acquired
  - Neonatal hepatitis
  - Obstructive jaundice syndrome
  - Pancreatitis, chronic/recurrent
  - Presentation/Pancreatitis in kids/recurrent
  - Sinusitis
  - Sinusitis, chronic
Disease Mechanism & Classification
- Class
  - CLASS/Chronic liver disease (ex)
  - CLASS/Lung Disorder (ex)
  - CLASS/Pulmonic (category)
- Pathophysiology
  - Pathophysiology/Genomic indentifiers (polymorphism/snip/mutations)
  - Pathophysiology/Single gene locus indentified
  - Pathophysiology/Bleeding from Portal Veins
- Process
  - PROCESS/Autosomal recessive disorder (ex)
  - PROCESS/Enzyme defect/Metabolic disorder (ex)
  - PROCESS/Hereditofamilial (category)
  - PROCESS/Metabolic/storage disorder (category)
Treatment
- Drug Therapy
  - RX/Alpha-1-Antitrypsin treatment
  - RX/Danazol (Danocrine)
  - SX/Lung transplant

What is DiagnosisPro?

DiagnosisPro is a free, accurate and time saving differential diagnosis tool that reminds you instantly of diagnostic possibilities and minimizes medical errors.

Overview

Covering over 15,000 disease manifestations such as symptoms, labs, ECG, X-ray, CT-Scan, MRI, Ultrasound, pathology, microbiology results and more.
Compiled from hundreds of world's most respected medical resources covering internal medicine, emergency medicine, pediatrics, office OB-GYN and more.
Designed for physicians by physicians to enhance quality of care and prevent diagnostic errors.
Detailed disease information for more than 7000 diseases.
Disease comparison tool to compare any two diseases side by side.

Join Our Community

Suggest improvement to our data or add your interesting cases to share with tens of thousands of other physicians worldwide.

We comply with the HONcode standard for trustworthy health information: verify here.

This site is designed primarily as a reminder system for use by qualified physicians and other medical professionals. By using this site you understand and accept that DiagnosisPro.com shall not be used as a diagnostic decision-making system and must not be used to make a clinical diagnosis or replace or overrule a licensed health care professional's judgment or clinical diagnosis (full terms of use).