AL amyloidosis

A plasma cell disorder characterized by the aggregation and deposition of insoluble amyloid fibrils derived from misfolding of monoclonal immunoglobulin light chains usually produced by a plasma cell tumor. It usually presents as primary systemic amyloidosis (PSA) with multiple organ involvement and less frequently as primary localized amyloidosis (PLA) restricted to a single organ.



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Narrow down the case reports



Total: 646 (papers)

  


(per page)
Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)
PMID
(PMCID)
1
(55.1%)
11793099
Glomerular involvement in myelodysplastic syndromes.
Bogdanovic R, Kuzmanovic M, Markovic-Lipkovski J, Ognjanovic M, Micic D, Stankovic I, Stajic N, Nikolic V, Bunjevacki G.
Pediatr Nephrol. 2001;16(12):1053-7.
Proteinuria Hepatosplenomegaly Anemia
Child Females Glucocorticoids Homo sapiens Infant Kidney Glomerulus Nephrotic Syndrome
2
(50.7%)
20139056
Systemic amyloidosis presenting as mucocutaneous bullous lesions.
Ahmad QM, Sultan SJ, Shah IH, Sameem F.
Hematol Oncol Stem Cell Ther. 2009;2(3):418-21.
Purpura Anemia Hepatomegaly
Amyloidosis Bulla Congo Red Differential Diagnosis Homo sapiens Male Mucous Membrane Skin Diseases, Vesiculobullous
3
(50.0%)
19280544
Splenic rupture in systemic amyloidosis - case presentation and review of the literature.
Skok P, Knehtl M, Ceranic D, Glumbic I.
Z Gastroenterol. 2009;47(3):292-5.
Splenomegaly Anemia
Amyloidosis Differential Diagnosis Fatal Outcome Hemoperitoneum Homo sapiens Liver Male Middle Aged Rupture, Spontaneous Spleen Splenic Diseases Splenic Rupture
4
(48.9%)
7696926
Chronic myelomonocytic leukemia associated with primary amyloidosis.
Cohen AM, Mittelman M, Gal R, Halperin M, Djaldetti M.
Leuk Lymphoma. 1994;16(1-2):183-7.
Xanthelasma Hepatosplenomegaly Macrocytic anemia
Adult Amyloidosis Chromosome Deletion Chromosomes, Human, Pair 21 Females Homo sapiens Leukemia, Myelomonocytic, Chronic
5
(48.3%)
28892914
Primary Amyloidosis - In a Case with Normal Plasma Cell Counts.
Trehan P, Gouri M, Wilfred C, Rashmi K, Mysorekar V.
J Clin Diagn Res. 2017;11(7):ED21-ED23.
Abdominal pain Hepatomegaly Erythroid hyperplasia
6
(46.0%)
18398581
Systemic AL amyloidosis with disseminated intravascular coagulation associated with hyperfibrinolysis.
Takahashi T, Suzukawa M, Akiyama M, Hatao K, Nakamura Y.
Int J Hematol. 2008;87(4):371-374.
Purpura Hepatosplenomegaly Macroscopic hematuria
Amyloidosis Biopsy Blood Coagulation Disorders Females Fibrinolysis Homo sapiens Middle Aged X-Ray Computed Tomography
7
(45.3%)
15657277
Systemic AL amyloidosis associated with multiple myeloma in a horse.
Kim DY, Taylor HW, Eades SC, Cho DY.
Vet Pathol. 2005;42(1):81-4.
Edema Splenomegaly Gastrointestinal hemorrhage
Amyloidosis Animals Bone Marrow Equus caballus Fatal Outcome Histocytochemistry Horse Diseases Jejunum Male Multiple Myeloma Spleen Transmission Electron Microscopy
8
(44.2%)
12577674
[Corticoid-sensitive nephrotic syndrome in children with myelodysplastic syndromes].
Bogdanovic R, Kuzmanovic M, Markovic-Lipkovski J, Ognjanovic M, Micic D, Stankovic I, Stajic N, Nikolic V, Bunjevacki G.
Srp Arh Celok Lek. 2002;130(9-10):323-8.
Proteinuria Hepatosplenomegaly Pancytopenia
Child Child, Preschool Females Glucocorticoids Homo sapiens Nephrotic Syndrome Primary Myelofibrosis
9
(43.7%)
30232705
Chronic intestinal pseudo-obstruction due to al amyloidosis: a case report and literature review.
Iida T, Hirayama D, Sudo G, Mitsuhashi K, Igarashi H, Yamashita K, Yamano H, Nakase H.
Clin J Gastroenterol. 2019;12(2):176-181.
Edema Anemia Nausea
Biopsy Endoscopy, Gastrointestinal Fatal Outcome Females Homo sapiens Intestinal Mucosa Intestinal Pseudo-Obstruction Middle Aged Rectum
9
(43.7%)
24474901
(3901606)
Primary systemic amyloidosis with extensive gastrointestinal involvement.
Gaduputi V, Badipatla K, Patel H, Tariq H, Ihimoyan A.
Case Rep Gastroenterol. 2013;7(3):511-5.
Anemia Vomiting Nephrotic range proteinuria
        

Phenotype(s) retrieved from Orphanet

    Total: 59

HPO ID Term Frequency
HP:0001639 Hypertrophic cardiomyopathy Very frequent (99-80%)
HP:0010702 Increased antibody level in blood Very frequent (99-80%)
HP:0012378 Fatigue Very frequent (99-80%)
HP:0000083 Renal insufficiency Frequent (79-30%)
HP:0000093 Proteinuria Frequent (79-30%)
HP:0000100 Nephrotic syndrome Frequent (79-30%)
HP:0000105 Enlarged kidney Frequent (79-30%)
HP:0000112 Nephropathy Frequent (79-30%)
HP:0001635 Congestive heart failure Frequent (79-30%)
HP:0002019 Constipation Frequent (79-30%)
HP:0002094 Dyspnea Frequent (79-30%)
HP:0002240 Hepatomegaly Frequent (79-30%)
HP:0002716 Lymphadenopathy Frequent (79-30%)
HP:0002829 Arthralgia Frequent (79-30%)
HP:0002916 Abnormality of chromosome segregation Frequent (79-30%)
HP:0003040 Arthropathy Frequent (79-30%)
HP:0003115 Abnormal EKG Frequent (79-30%)
HP:0003155 Elevated alkaline phosphatase Frequent (79-30%)
HP:0005508 Monoclonal immunoglobulin M proteinemia Frequent (79-30%)
HP:0006530 Interstitial pulmonary abnormality Frequent (79-30%)
HP:0006775 Multiple myeloma Frequent (79-30%)
HP:0010741 Pedal edema Frequent (79-30%)
HP:0011675 Arrhythmia Frequent (79-30%)
HP:0011949 Acute infectious pneumonia Frequent (79-30%)
HP:0012450 Chronic constipation Frequent (79-30%)
HP:0100598 Pulmonary edema Frequent (79-30%)
HP:0000158 Macroglossia Occasional (29-5%)
HP:0000217 Xerostomia Occasional (29-5%)
HP:0000790 Hematuria Occasional (29-5%)
HP:0000822 Hypertension Occasional (29-5%)
HP:0000846 Adrenal insufficiency Occasional (29-5%)
HP:0000853 Goiter Occasional (29-5%)
HP:0000979 Purpura Occasional (29-5%)
HP:0001097 Keratoconjunctivitis sicca Occasional (29-5%)
HP:0001271 Polyneuropathy Occasional (29-5%)
HP:0001662 Bradycardia Occasional (29-5%)
HP:0001746 Asplenia Occasional (29-5%)
HP:0002024 Malabsorption Occasional (29-5%)
HP:0002202 Pleural effusion Occasional (29-5%)
HP:0002239 Gastrointestinal hemorrhage Occasional (29-5%)
HP:0002271 obsolete Autonomic dysregulation Occasional (29-5%)
HP:0002579 Gastrointestinal dysmotility Occasional (29-5%)
HP:0002616 Aortic root aneurysm Occasional (29-5%)
HP:0002758 Osteoarthritis Occasional (29-5%)
HP:0002781 Upper airway obstruction Occasional (29-5%)
HP:0003712 Skeletal muscle hypertrophy Occasional (29-5%)
HP:0004313 Decreased antibody level in blood Occasional (29-5%)
HP:0004417 Intermittent claudication Occasional (29-5%)
HP:0004926 Orthostatic hypotension due to autonomic dysfunction Occasional (29-5%)
HP:0005341 Autonomic bladder dysfunction Occasional (29-5%)
HP:0005561 Abnormality of bone marrow cell morphology Occasional (29-5%)
HP:0008066 Abnormal blistering of the skin Occasional (29-5%)
HP:0010287 Abnormality of the submandibular glands Occasional (29-5%)
HP:0010676 Mechanical ileus Occasional (29-5%)
HP:0011857 Plasmacytoma Occasional (29-5%)
HP:0012115 Hepatitis Occasional (29-5%)
HP:0030164 Jaw claudication Occasional (29-5%)
HP:0200034 Papule Occasional (29-5%)
HP:0200036 Skin nodule Occasional (29-5%)


Phenotype(s) retrieved from case reports

    Total: 132

HPO ID Term # of case reports
HP:0000100 Nephrotic syndrome 30
HP:0000093 Proteinuria 12
HP:0030731 Carcinoma 11
HP:0003198 Myopathy 10
HP:0001638 Cardiomyopathy 9
HP:0001635 Congestive heart failure 8
HP:0012223 Splenic rupture 8
HP:0001271 Polyneuropathy 7
HP:0001396 Cholestasis 7
HP:0001399 Hepatic failure 7
HP:0001406 Intrahepatic cholestasis 7
HP:0000099 Glomerulonephritis 6
HP:0000112 Nephropathy 6
HP:0001409 Portal hypertension 6
HP:0002202 Pleural effusion 6
HP:0002716 Lymphadenopathy 6
HP:0002835 Aspiration 6
HP:0009830 Peripheral neuropathy 6
HP:0000790 Hematuria 5
HP:0000853 Goiter 4
HP:0000952 Jaundice 4
HP:0001370 Rheumatoid arthritis 4
HP:0001824 Weight loss 4
HP:0003040 Arthropathy 4
HP:0004389 Intestinal pseudo-obstruction 4
HP:0005523 Lymphoproliferative disorder 4
HP:0000969 Edema 3
HP:0001695 Cardiac arrest 3
HP:0001909 Leukemia 3
HP:0002014 Diarrhea 3
HP:0002027 Abdominal pain 3
HP:0002094 Dyspnea 3
HP:0002239 Gastrointestinal hemorrhage 3
HP:0002240 Hepatomegaly 3
HP:0012578 Membranous nephropathy 3
HP:0030164 Jaw claudication 3
HP:0000123 Nephritis 2
HP:0000793 Membranoproliferative glomerulonephritis 2
HP:0000822 Hypertension 2
HP:0000979 Purpura 2
HP:0001278 Orthostatic hypotension 2
HP:0001279 Syncope 2
HP:0001541 Ascites 2
HP:0001645 Sudden cardiac death 2
HP:0001658 Myocardial infarction 2
HP:0001903 Anemia 2
HP:0002015 Dysphagia 2
HP:0002028 Chronic diarrhea 2
HP:0002573 Hematochezia 2
HP:0002578 Gastroparesis 2
HP:0002592 Gastric ulcer 2
HP:0002615 Hypotension 2
HP:0002953 Vertebral compression fractures 2
HP:0003072 Hypercalcemia 2
HP:0003701 Proximal muscle weakness 2
HP:0011675 Arrhythmia 2
HP:0011900 Hypofibrinogenemia 2
HP:0012115 Hepatitis 2
HP:0000081 Duplicated collecting system 1
HP:0000083 Renal insufficiency 1
HP:0000126 Hydronephrosis 1
HP:0000486 Strabismus 1
HP:0000819 Diabetes mellitus 1
HP:0000836 Hyperthyroidism 1
HP:0000872 Hashimoto thyroiditis 1
HP:0001138 Optic neuropathy 1
HP:0001289 Confusion 1
HP:0001324 Muscle weakness 1
HP:0001347 Hyperreflexia 1
HP:0001369 Arthritis 1
HP:0001433 Hepatosplenomegaly 1
HP:0001618 Dysphonia 1
HP:0001647 Bicuspid aortic valve 1
HP:0001678 Atrioventricular block 1
HP:0001698 Pericardial effusion 1
HP:0001933 Subcutaneous hemorrhage 1
HP:0001945 Fever 1
HP:0001970 Tubulointerstitial nephritis 1
HP:0002040 Esophageal varix 1
HP:0002099 Asthma 1
HP:0002104 Apnea 1
HP:0002105 Hemoptysis 1
HP:0002157 Azotemia 1
HP:0002204 Pulmonary embolism 1
HP:0002315 Headache 1
HP:0002380 Fasciculations 1
HP:0002583 Colitis 1
HP:0002584 Intestinal bleeding 1
HP:0002586 Peritonitis 1
HP:0002829 Arthralgia 1
HP:0002902 Hyponatremia 1
HP:0003073 Hypoalbuminemia 1
HP:0003074 Hyperglycemia 1
HP:0004308 Ventricular arrhythmia 1
HP:0004395 Malnutrition 1
HP:0004396 Poor appetite 1
HP:0004890 Elevated pulmonary artery pressure 1
HP:0005521 Disseminated intravascular coagulation 1
HP:0005943 Respiratory arrest 1
HP:0006515 Interstitial pneumonitis 1
HP:0008200 Primary hyperparathyroidism 1
HP:0008404 Nail dystrophy 1
HP:0008940 Generalized lymphadenopathy 1
HP:0009831 Mononeuropathy 1
HP:0010310 Chylothorax 1
HP:0011704 Sick sinus syndrome 1
HP:0011854 Hemoperitoneum 1
HP:0011921 Exudative pleural effusion 1
HP:0012126 Stomach cancer 1
HP:0012378 Fatigue 1
HP:0012418 Hypoxemia 1
HP:0012473 Tongue atrophy 1
HP:0012579 Minimal change glomerulonephritis 1
HP:0012593 Nephrotic range proteinuria 1
HP:0012735 Cough 1
HP:0025168 Left ventricular diastolic dysfunction 1
HP:0025552 Periorbital purpura 1
HP:0030151 Cholangitis 1
HP:0031047 Paraproteinemia 1
HP:0031364 Ecchymosis 1
HP:0031500 Abdominal mass 1
HP:0032018 Multiple mononeuropathy 1
HP:0032445 Pulmonary cyst 1
HP:0040075 Hypopituitarism 1
HP:0040313 Oligoarthritis 1
HP:0100279 Ulcerative colitis 1
HP:0100699 Scarring 1
HP:0100721 Mediastinal lymphadenopathy 1
HP:0100726 Kaposi's sarcoma 1
HP:0100727 Histiocytosis 1
HP:0100806 Sepsis 1
HP:0410019 Epigastric pain 1


Causative gene(s) retrieved from Orphanet

    Total: 0

Gene Symbol Gene Name Entrez Gene ID