Alpha-1-antitrypsin deficiency

A hereditary disease that develops in adulthood and is characterized by chronic liver disorders (cirrhosis), respiratory disorders (emphysema), and rarely panniculitis.



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Narrow down the case reports



Total: 255 (papers)

   


(per page)
Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
1
(42.2%)		 7424954
 Low sweat electrolytes in a patient with cystic fibrosis.
Davis PB, Hubbard VS, Di Sant'Agnese PA.
Am J Med. 1980;69(4):643-6.
Sinusitis Nasal polyposis
SERPINA1
Adult Chlorides Cystic Fibrosis Electrolytes Females Homo sapiens Sweat
2
(40.9%)		 6971926
 Successful spleno-renal shunt and splenectomy in two patients with alpha-1-antitrypsin deficiency.
Sotos JF, Cutler EA, Romshe CA, Clatworthy HW Jr.
J Pediatr Surg. 1981;16(1):12-6.
Sinusitis
SERPINA1
Child, Preschool Females Homo sapiens Hypersplenism Infant, Newborn Liver Cirrhosis Male Phenotype Portal Hypertension Splenectomy Splenorenal Shunt, Surgical Surgical Portosystemic Shunt alpha 1-Antitrypsin Deficiency
2
(40.9%)		 4023992
 Bronchiectasis and oligospermia: two families.
Davis PB, Hubbard VS, Garvin AJ.
Thorax. 1985;40(5):376-9.
Sinusitis
SERPINA1
Adult Bronchi Bronchiectasis Cilia Females Homo sapiens Male Oligospermia Syndrome
4
(37.5%)		 11241486
 Non-bullous ichthyosiform erythroderma associated with retinitis pigmentosa.
Rajagopalan B.
Am J Med Genet. 2001;99(3):181-4.
Hypogonadism Arachnodactyly Thoracic kyphosis
SERPINA1
Adult Congenital Nonbullous Ichthyosiform Erythroderma Homo sapiens Male Retinitis Pigmentosa alpha 1-Antitrypsin Deficiency
5
(29.4%)		 6979967
 Chronic ulcerative conjunctivitis in a patient with alpha-1-antitrypsin deficiency.
Tabbara KF, Ostler HB, Biswell R, Daniels TE.
Ann Ophthalmol. 1982;14(3):280-2.
Conjunctivitis
ADRA1D SERPINA1
Conjunctival Diseases Conjunctivitis Females Homo sapiens Middle Aged Ulcer alpha 1-Antitrypsin Deficiency
6
(26.3%)		 23394514
 A 55-year-old man with severe persistent asthma poorly responsive to asthma therapy.
Ricketti PA, Ricketti AJ, Cleri DJ, Unkle DW, Vernaleo JR.
Allergy Asthma Proc. 2012;33(6):538-43.
Mitral stenosis Allergic rhinitis
SERPINA1
Anti-Asthmatic Agents Asthma Differential Diagnosis Homo sapiens Male Middle Aged Physical Examination Radiography, Thoracic Respiratory Function Tests Respiratory Sounds Severity of Illness Index X-Ray Computed Tomography
7
(21.2%)		 29950358
 Hidden burden of osteoporosis in alpha-1 antitrypsin deficiency.
Filipas E, Southern I, Khanna P, Banerjee R.
BMJ Case Rep. 2018;2018:.
Osteoporosis
SERPINA1
Chronic Obstructive Airway Disease Homo sapiens Male Middle Aged Osteoporosis Sex Hormone-Binding Globulin alpha 1-Antitrypsin Deficiency
7
(21.2%)		 19017039
 Syringotropic hypersensitivity reaction associated with infliximab and leflunomide combination therapy in a child with psoriatic arthritis.
Vesel T, Luzar B, Calonje E, Avcin T.
J Cutan Pathol. 2009;36(9):991-4.
Skin rash Arthritis
SERPINA1
Anti-Inflammatory Agents Arthritis, Psoriatic Combination Drug Therapy Drug Allergy Homo sapiens Isoxazoles Male Monoclonal Antibodies
7
(21.2%)		 7612033
 End-stage liver disease developing with the use of methotrexate in heterozygous alpha 1-antitrypsin deficiency.
Hilsden RJ, Urbanski SJ, Swain MG.
Arthritis Rheum. 1995;38(7):1014-8.
Rheumatoid arthritis
SERPINA1
Biopsy Heterozygote Homo sapiens Liver Liver Cirrhosis Liver Failure Male Phenotype Rheumatoid Arthritis alpha 1-Antitrypsin Deficiency
7
(21.2%)		 2784175
 [Early childhood oligoarthritis (antinuclear antibody positive) in alpha 1-antitrypsin deficiency of the PiIZ type].
Heyne K, Weidinger S.
Monatsschr Kinderheilkd. 1989;137(1):49-51.
Arthritis
SERPINA1
Antibodies, Antinuclear Females Genetic Carrier Screening Homo sapiens Infant Phenotype
        

Phenotype(s) retrieved from Orphanet

    Total: 6

HPO ID Term Frequency
HP:0001399 Hepatic failure Very frequent (99-80%)
HP:0002097 Emphysema Very frequent (99-80%)
HP:0000952 Jaundice Frequent (79-30%)
HP:0002240 Hepatomegaly Frequent (79-30%)
HP:0012115 Hepatitis Frequent (79-30%)
HP:0000100 Nephrotic syndrome Occasional (29-5%)


Phenotype(s) retrieved from case reports

    Total: 87

HPO ID Term # of case reports
HP:0002097 Emphysema 44
HP:0001394 Cirrhosis 35
HP:0012490 Panniculitis 20
HP:0002110 Bronchiectasis 9
HP:0001396 Cholestasis 7
HP:0002099 Asthma 7
HP:0012115 Hepatitis 6
HP:0005912 Biliary atresia 5
HP:0001409 Portal hypertension 3
HP:0001541 Ascites 3
HP:0002027 Abdominal pain 3
HP:0030731 Carcinoma 3
HP:0200123 Chronic hepatitis 3
HP:0000099 Glomerulonephritis 2
HP:0000793 Membranoproliferative glomerulonephritis 2
HP:0000822 Hypertension 2
HP:0000952 Jaundice 2
HP:0001718 Mitral stenosis 2
HP:0001733 Pancreatitis 2
HP:0002014 Diarrhea 2
HP:0002020 Gastroesophageal reflux 2
HP:0002204 Pulmonary embolism 2
HP:0002664 Neoplasm 2
HP:0002835 Aspiration 2
HP:0003124 Hypercholesterolemia 2
HP:0005206 Pancreatic pseudocyst 2
HP:0031801 Vocal cord dysfunction 2
HP:0000093 Proteinuria 1
HP:0000100 Nephrotic syndrome 1
HP:0000112 Nephropathy 1
HP:0000246 Sinusitis 1
HP:0000509 Conjunctivitis 1
HP:0000518 Cataract 1
HP:0000790 Hematuria 1
HP:0000939 Osteoporosis 1
HP:0000961 Cyanosis 1
HP:0001166 Arachnodactyly 1
HP:0001298 Encephalopathy 1
HP:0001342 Cerebral hemorrhage 1
HP:0001369 Arthritis 1
HP:0001370 Rheumatoid arthritis 1
HP:0001413 Micronodular cirrhosis 1
HP:0001635 Congestive heart failure 1
HP:0001735 Acute pancreatitis 1
HP:0001945 Fever 1
HP:0001971 Hypersplenism 1
HP:0002021 Pyloric stenosis 1
HP:0002024 Malabsorption 1
HP:0002107 Pneumothorax 1
HP:0002108 Spontaneous pneumothorax 1
HP:0002240 Hepatomegaly 1
HP:0002315 Headache 1
HP:0002586 Peritonitis 1
HP:0002592 Gastric ulcer 1
HP:0002647 Aortic dissection 1
HP:0002904 Hyperbilirubinemia 1
HP:0002908 Conjugated hyperbilirubinemia 1
HP:0002942 Thoracic kyphosis 1
HP:0002955 Granulomatosis 1
HP:0003072 Hypercalcemia 1
HP:0003193 Allergic rhinitis 1
HP:0005112 Abdominal aortic aneurysm 1
HP:0006280 Chronic pancreatitis 1
HP:0006521 Pulmonary lymphangiectasia 1
HP:0006562 Viral hepatitis 1
HP:0008200 Primary hyperparathyroidism 1
HP:0008682 Acute tubular necrosis 1
HP:0008755 Laryngotracheomalacia 1
HP:0009098 Chronic oral candidiasis 1
HP:0009830 Peripheral neuropathy 1
HP:0012159 Internal carotid artery dissection 1
HP:0012315 Histiocytoma 1
HP:0012393 Allergy 1
HP:0012444 Brain atrophy 1
HP:0012722 Heart block 1
HP:0031607 Pelvic organ prolapse 1
HP:0031972 Presyncope 1
HP:0040313 Oligoarthritis 1
HP:0100242 Sarcoma 1
HP:0100523 Liver abscess 1
HP:0100598 Pulmonary edema 1
HP:0100658 Cellulitis 1
HP:0100665 Angioedema 1
HP:0100749 Chest pain 1
HP:0100790 Hernia 1
HP:0200120 Chronic active hepatitis 1
HP:0410135 Cold urticaria 1


Causative gene(s) retrieved from Orphanet

    Total: 1

Gene Symbol Gene Name Entrez Gene ID
SERPINA1 serpin family A member 1 5265