Gene Summary

carboxypeptidase A1, pancreatic

IMPC Data Collections

IMPC Phenotype Summary

Not Significant
Not tested


The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
increased leukocyte cell number Cpa1em1(IMPC)Marc HOM Early adult 8.09×10-06
increased mean corpuscular hemoglobin Cpa1em1(IMPC)Marc HOM Early adult 1.92×10-10
decreased red blood cell distribution width Cpa1em1(IMPC)Marc HOM Early adult 1.32×10-05
increased mean corpuscular volume Cpa1em1(IMPC)Marc HOM Early adult 1.09×10-06
increased lymphocyte cell number Cpa1em1(IMPC)Marc HOM Early adult 1.05×10-11

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lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Cpa1 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Cpa1 by orthology or direct annotation.

Disease Similarity of
Matching phenotypes Source
Hereditary Chronic Pancreatitis
Elevated circulating C-reactive protein concentration, Jaundice, Pancreatic calcification, Recurr... ORPHA:676

The table below shows human diseases predicted to be associated to Cpa1 by phenotypic similarity.

Disease Similarity of
Matching phenotypes Source
Cramps, Familial Adolescent
Elevated circulating creatine kinase concentration OMIM:218050
Muscle Cramps, Familial
Elevated circulating creatine kinase concentration OMIM:158400
Plasma Fibronectin Deficiency
Reduced circulating fibronectin level OMIM:614101
Hemoglobin D Disease
Abnormal hemoglobin, Anemia, Decreased mean corpuscular volume, HbS hemoglobin, Decreased mean co... ORPHA:90039
Atr-16 syndrome
Abnormal erythrocyte morphology DECIPHER:65
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Increased mean corpuscular volume, Thrombocytopenia, Acute myeloid leukemia OMIM:252270
Hemoglobin E-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin ORPHA:231249
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Sideroblastic anemia, Decreased mean corpuscular volume, Hypochromia, Anemia OMIM:205950
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Abnormality of circulating enzyme level, Abnormal circulating carbohydrate concentration ORPHA:2843
Diamond-Blackfan Anemia-Like
Steroid-responsive anemia, Pure red cell aplasia OMIM:617911
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Hyperlipoproteinemia, Recurrent pancreatitis, Splenomegaly OMIM:118830
Diamond-Blackfan Anemia 19
Steroid-responsive anemia, Erythroid hypoplasia, Anemia OMIM:618312
Diamond-Blackfan Anemia 3
Persistence of hemoglobin F, Reticulocytopenia, Macrocytic anemia, Increased mean corpuscular vol... OMIM:610629
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Anemia, Neutropenia, Increased mean corpuscular volume, Thrombocytopenia, Pancytopenia, Acute mye... OMIM:619041
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Anisocytosis, Poikilocytosis, Anemia of inadequate production, Oval macrocytosis OMIM:603529
Transient Erythroblastopenia Of Childhood
Anemia, Transient erythroblastopenia OMIM:227050
Acetophenetidin Sensitivity
Methemoglobinemia, Hemolytic anemia OMIM:200300
Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231237
Hemoglobin E Disease
Increased red blood cell count, Abnormal hemoglobin, Decreased mean corpuscular volume, Hypochrom... ORPHA:2133
Anemia, Sideroblastic, 4
Sideroblastic anemia, Abnormal erythrocyte morphology OMIM:182170
Bone Marrow Failure And Diabetes Mellitus Syndrome
Increased mean corpuscular volume, Pancytopenia, T-cell acute lymphoblastic leukemias OMIM:620044
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Splenomegaly, Microcytic anemia, Abnormal hemoglobin ORPHA:231242
Hemoglobin H Disease
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hemolytic anemia, Splenomegaly OMIM:613978
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Thrombocytopenia 2
Thrombocytopenia, Leukocytosis OMIM:188000
Hyperinsulinemic Hypoglycemia, Familial, 2
Pancreatic islet-cell hyperplasia, Nesidioblastosis OMIM:601820
Thrombocytopenia 5
Anemia, Increased mean corpuscular volume, Thrombocytopenia, B Acute Lymphoblastic Leukemia, Neut... OMIM:616216
Intrinsic Factor Deficiency
Increased mean corpuscular volume, Increased RBC distribution width, Megaloblastic erythroid hype... OMIM:261000
Beta-Thalassemia, Dominant Inclusion Body Type
Erythrocyte inclusion bodies, Persistence of hemoglobin F, Microcytic anemia, Increased HbA2 hemo... OMIM:603902
Lipase Deficiency, Combined
Hypertriglyceridemia, Pancreatitis OMIM:246650
Dehydrated Hereditary Stomatocytosis 2
Anisopoikilocytosis, Reticulocytosis, Increased mean corpuscular hemoglobin concentration, Hemoly... OMIM:616689
Diamond-Blackfan Anemia 8
Increased mean corpuscular volume, Macrocytic anemia, Neutropenia OMIM:612563
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Leukocytosis, Anemia OMIM:619398
Myeloproliferative Syndrome, Transient
Transient myeloproliferative syndrome, Leukocytosis OMIM:159595
Pancreatic Agenesis 1
Pancreatic hypoplasia, Exocrine pancreatic insufficiency, Reduced C-peptide level, Pancreatic apl... OMIM:260370
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal hemoglobin, Thrombocytopenia, Splenomegaly, Anemia ORPHA:231393
Congenital Pancreatic Cyst
Pancreatitis, Jaundice ORPHA:313906
Bone Marrow Failure Syndrome 6
Anemia, Persistence of hemoglobin F, Lymphopenia, Increased mean corpuscular volume, Neutropenia OMIM:618849
Overhydrated Hereditary Stomatocytosis
Anisocytosis, Reticulocytosis, Hemolytic anemia, Abnormal mean corpuscular volume, Stomatocytosis... ORPHA:3203
Tn Polyagglutination Syndrome
Abnormal erythrocyte morphology OMIM:300622
Anemia, Hypochromic Microcytic, With Iron Overload 1
Decreased mean corpuscular volume, Hypochromia, Erythroid hyperplasia, Anemia OMIM:206100
Isolated Asymptomatic Elevation Of Creatine Phosphokinase
Elevated creatine kinase after exercise, Elevated circulating creatine kinase concentration ORPHA:206599
Iron-Refractory Iron Deficiency Anemia
Hypochromic microcytic anemia, Anisocytosis, Poikilocytosis OMIM:206200
Familial Pseudohyperkalemia
Episodic hemolytic anemia, Stomatocytosis, Reticulocytosis, Increased mean corpuscular volume ORPHA:90044
Sickle Cell Anemia
Reticulocytosis, Leukocytosis, Hemolytic anemia, Hypochromic anemia, Persistence of hemoglobin F,... ORPHA:232
Pancreatic Agenesis 2
Pancreatic hypoplasia, Steatorrhea, Exocrine pancreatic insufficiency, Pancreatic aplasia OMIM:615935
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Splenomegaly, Anemia ORPHA:46532
Cholestasis, Benign Recurrent Intrahepatic, 1
Intermittent jaundice, Intrahepatic cholestasis with episodic jaundice, Pancreatitis, Hepatomegal... OMIM:243300
Alpha-Thalassemia Myelodysplasia Syndrome
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:300448
Eosinophilia, Familial
Thrombocytopenia, Leukocytosis, Eosinophilia, Anemia OMIM:131400
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome
Aplasia/Hypoplasia of the pancreas ORPHA:65288
Oslam Syndrome
Increased mean corpuscular volume, Abnormality of neutrophils ORPHA:2760
Chylous Ascites
Pancreatitis, Abnormal intestine morphology ORPHA:1160
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Increased mean corpuscular volume, Elevated red cell adenosine deaminase level, Persistence of he... OMIM:300946
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Macrothrombocytopenia, Anisocytosis, Hypochromic anemia, Anemia of inadequate production, Poikilo... ORPHA:67044
Diamond-Blackfan Anemia 18
Steroid-responsive anemia, Erythroid hypoplasia, Neutropenia OMIM:618310
Neutrophil Immunodeficiency Syndrome
Leukocytosis, Abnormality of neutrophil physiology ORPHA:183707
Martinez-Frias Syndrome
Pancreatic hypoplasia, Extrahepatic biliary duct atresia, Intestinal hypoplasia, Duodenal atresia... OMIM:601346
Combined Oxidative Phosphorylation Deficiency 52
Pancreatitis, Hyperalaninemia, Elevated circulating creatine kinase concentration, Adrenal insuff... OMIM:619386
Mahvash Disease
Pancreatic alpha-cell hyperplasia, Recurrent pancreatitis OMIM:619290
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Reduced red cell pyruvate kinase level, Anisocytosis, Reticulocytosis, Anemia, Abnormal erythrocy... ORPHA:766
Citrullinemia, Type Ii, Adult-Onset
Hepatocellular carcinoma, Hyperammonemia, Pancreatitis, Portal inflammation, Hepatic fibrosis, El... OMIM:603471
Anemia, Congenital Dyserythropoietic, Type Ib
Anisocytosis, Reticulocytosis, Anemia, Anemia of inadequate production, Erythroid hyperplasia, Po... OMIM:615631
Elliptocytosis 3
Decreased mean corpuscular volume, Pyropoikilocytosis, Elliptocytosis, Chronic hemolytic anemia OMIM:617948
Hereditary Chronic Pancreatitis
Elevated circulating C-reactive protein concentration, Jaundice, Pancreatic calcification, Recurr... ORPHA:676
Vacuolar Myopathy With Sarcoplasmic Reticulum Protein Aggregates
Elevated circulating creatine kinase concentration ORPHA:88635
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Anisocytosis, Leukopenia, Abnormal erythrocyte morphology, Macrocytic anemia, Abnormality of neut... ORPHA:86841
Heinz Body Anemias
Heinz body anemia, Heinz bodies, Nonspherocytic hemolytic anemia OMIM:140700
Mitchell-Riley Syndrome
Pancreatic hypoplasia, Anteriorly placed anus, Duodenal atresia, Cholestasis, Malabsorption, Jeju... OMIM:615710
Cyanosis, Transient Neonatal
Reticulocytosis, Methemoglobinemia, Anemia OMIM:613977
Familial Partial Lipodystrophy, Köbberling Type
Pancreatitis, Polycystic ovaries, Hepatomegaly, Hepatic steatosis ORPHA:79084
Congenital Amegakaryocytic Thrombocytopenia
Abnormal hemoglobin, Thrombocytopenia, Anemia ORPHA:3319
Congenital Dyserythropoietic Anemia Type Iii
Anisocytosis, Abnormal erythrocyte morphology, Anemia, Increased mean corpuscular volume, Poikilo... ORPHA:98870
Pancreatitis, Hereditary
Pancreatic calcification, Pancreatitis, Steatorrhea, Pancreatic pseudocyst, Exocrine pancreatic i... OMIM:167800
Hypochromic microcytic anemia, Reduced beta/alpha synthesis ratio OMIM:613985
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio OMIM:604131
Dehydrated Hereditary Stomatocytosis
Increased hemoglobin concentration, Reticulocytosis, Polycythemia, Hemolytic anemia, Increased me... ORPHA:3202
Mitochondrial Complex Iii Deficiency, Nuclear Type 11
Pancreatitis, Hyperammonemia OMIM:620137
Persistent Polyclonal B-Cell Lymphocytosis
Lymphocytosis, Splenomegaly OMIM:606445
Apolipoprotein C-Ii Deficiency
Pancreatitis, Hepatomegaly, Splenomegaly, Hypertriglyceridemia, Decreased circulating apolipoprot... OMIM:207750
Overhydrated Hereditary Stomatocytosis
Reticulocytosis, Hemolytic anemia, Increased mean corpuscular volume, Stomatocytosis, Splenomegaly OMIM:185000
Triokinase And Fmn Cyclase Deficiency Syndrome
Pancreatitis, Hepatomegaly, Hepatic steatosis, Hypoalbuminemia OMIM:618805
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Anisocytosis, Elliptocytosis, Abnormal reticulocyte morphology, Macrocytic anemia, Thrombocytopen... OMIM:300835
Mitochondrial Complex I Deficiency, Nuclear Type 8
Pancreatitis OMIM:618230
Aicardi-Goutieres Syndrome 2
Lymphocytosis OMIM:610181
Acute Myelomonocytic Leukemia
Thrombocytopenia, Leukocytosis, Eosinophilia, Anemia ORPHA:517
Tropical Calcific Pancreatitis
Chronic pancreatitis, Neoplasm of the pancreas, Pancreatic calcification OMIM:608189
Benign Recurrent Intrahepatic Cholestasis
Hepatocellular carcinoma, Jaundice, Cholestatic liver disease, Pancreatitis, Cirrhosis, Cholelith... ORPHA:65682
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hepatosplenomegaly, Anisocytosis, Anemia, Decreased mean corpuscular volume, Hypochromia, Erythro... OMIM:616860
Gallbladder Disease 1
Cholangitis, Jaundice, Cholestasis, Pancreatitis, Bile duct proliferation, Hepatic fibrosis, Chol... OMIM:600803
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Reticulocytosis, Asplenia, Persistence of hemoglobin F, HbS hemoglobin, Hypochromic microcytic an... ORPHA:251380
Hyperparathyroidism 2 With Jaw Tumors
Parathyroid carcinoma, Recurrent pancreatitis, Hyperparathyroidism, Pancreatic adenocarcinoma, Hy... OMIM:145001
Alpha-Thalassemia-Myelodysplastic Syndrome
HbH hemoglobin, Microcytic anemia, Thrombocytopenia, Acute leukemia, Splenomegaly, Neutropenia ORPHA:231401
Hyperlipoproteinemia, Type Id
Recurrent pancreatitis, Pancreatitis, Decreased LDL cholesterol concentration, Hyperlipoproteinem... OMIM:615947
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Increased mean corpuscular volume, Thrombocytopenia, Pancytopenia, Megaloblastic anemia OMIM:613839
Tropical Pancreatitis
Jaundice, Chronic calcifying pancreatitis, Pancreatic calcification, Pancreatic adenocarcinoma, A... ORPHA:103918
Annular Pancreas
High intestinal obstruction, Duodenal stenosis, Annular pancreas ORPHA:675
Pancreas, Annular
High intestinal obstruction, Duodenal stenosis, Annular pancreas OMIM:167750
Hemolytic anemia, Abnormal hemoglobin, Anemia, Microcytic anemia, Hypersplenism, Splenomegaly ORPHA:846
Lipodystrophy, Familial Partial, Type 1
Hypertriglyceridemia, Acute pancreatitis, Hepatomegaly OMIM:608600
Diamond-Blackfan Anemia 6
Increased mean corpuscular volume, Persistence of hemoglobin F, Macrocytic anemia OMIM:612561
Hyperinsulinemic Hypoglycemia, Familial, 6
Asymptomatic hyperammonemia, Abnormality of the pancreatic islet cells OMIM:606762
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Fava bean-induced hemolytic anemia, Anisocytosis, Heinz bodies, Leukocytosis, Reticulocytosis, Po... OMIM:300908
Ras-Associated Autoimmune Leukoproliferative Disorder
Hemolytic anemia, Leukemia, Autoimmune thrombocytopenia, Pancytopenia, Lymphocytosis, Monocytosis... OMIM:614470
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Extramedullary hematopoiesis, Anemia, Increased mean corpuscular volume, Sideroblastic anemia, Th... OMIM:617021
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Pancreatitis, Hepatomegaly, Hyperammonemia ORPHA:289916
Immunodeficiency 96
Increased mean corpuscular volume, Increased proportion of gamma-delta T cells OMIM:619774
Majeed Syndrome
Hepatosplenomegaly, Decreased mean corpuscular volume, Anemia of inadequate production, Microcyti... OMIM:609628
Anemia, Congenital Dyserythropoietic, Type Ia
Anisocytosis, Bite cells, Reticulocytosis, Hemolytic anemia, Anemia of inadequate production, Ery... OMIM:224120
Immunodeficiency 69
Hepatosplenomegaly, Leukocytosis, Anemia, Pancytopenia, Thrombocytosis, Splenomegaly OMIM:618963
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Pancreatitis, Hepatomegaly, Splenomegaly, Hyperammonemia ORPHA:79312
Anemia, Hypochromic Microcytic, With Iron Overload 2
Anemia, Decreased mean corpuscular volume, Hypochromia, Poikilocytosis, Splenomegaly OMIM:615234
Duodenal Atresia
Annular pancreas, Duodenal atresia, Abnormality of the pancreas ORPHA:1203
Anemia, Congenital Dyserythropoietic, Type Iv
Hepatosplenomegaly, Anisocytosis, Reticulocytosis, Hemolytic anemia, Anemia, Reduced hematocrit, ... OMIM:613673
Low Phospholipid-Associated Cholelithiasis
Hepatocellular carcinoma, Cholangitis, Liver abscess, Neoplasm of the liver, Intrahepatic cholest... ORPHA:69663
Hypocalciuric Hypercalcemia, Familial, Type I
Hyperparathyroidism, Pancreatitis, Hypermagnesemia, Hypercalcemia, Parathyroid adenoma OMIM:145980
Dietary Iron Overload Disease
Peritonitis, Hepatocellular carcinoma, Elevated transferrin saturation, Hepatic bridging fibrosis... ORPHA:139507
Hypocalciuric Hypercalcemia, Familial, Type Ii
Peptic ulcer, Pancreatitis, Hypermagnesemia, Primary hyperparathyroidism, Hypercalcemia OMIM:145981
Maple Syrup Urine Disease
Pancreatitis, Elevated circulating L-alloisoleucine concentration, Elevated circulating branched ... OMIM:248600
Cidec-Related Familial Partial Lipodystrophy
Pancreatitis, Polycystic ovaries, Hepatomegaly, Hypertriglyceridemia, Hyperlipidemia, Hepatic ste... ORPHA:435651
Matthew-Wood Syndrome
Cryptorchidism, Abnormal spleen morphology, Duodenal stenosis, Annular pancreas, Aplasia/Hypoplas... ORPHA:2470
Woronets Trait
Red blood cell keratocytosis OMIM:194320
Juvenile Arthritis
Leukocytosis, Thrombocytosis OMIM:618795
Hyperlipoproteinemia, Type I
Hepatosplenomegaly, Jaundice, Hypercholesterolemia, Pancreatitis, Hyperlipidemia, Increased circu... OMIM:238600
Vitamin B12-Unresponsive Methylmalonic Acidemia
Pancreatitis, Hepatomegaly, Hyperammonemia ORPHA:27
Adenosine Triphosphate, Elevated, Of Erythrocytes
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia OMIM:102900
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Pancreatic hypoplasia, Cholestasis, Hiatus hernia, Hepatic fibrosis, Hepatomegaly, Decreased circ... OMIM:610199
Pancreatic hypoplasia, Hepatocellular adenoma, Abnormal circulating C-peptide concentration, Elev... ORPHA:552
Acute Lung Injury
Acute pancreatitis, Elevated circulating C-reactive protein concentration, Pneumonia, Increased c... ORPHA:178320
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency
Aspiration pneumonia, Pancreatitis, Hyperlysinemia, Decreased plasma carnitine, Abnormal circulat... ORPHA:431361
Refractory Anemia With Excess Blasts
Leukocytosis, Abnormal mean corpuscular volume, Anemia of inadequate production, Thrombocytopenia... ORPHA:86839
Erythrocyte Lactate Transporter Defect
Elevated circulating creatine kinase concentration OMIM:245340
Methylcobalamin Deficiency Type Cble
Increased mean corpuscular volume, Pancytopenia, Macrocytic anemia, Neutropenia ORPHA:2169
Propionic Acidemia
Hyperammonemia, Pancreatitis, Hepatomegaly, Eczema, Hyperglycinemia, Hyperglycinuria OMIM:606054
Retinitis Pigmentosa And Erythrocytic Microcytosis
Anisocytosis, Elliptocytosis, Anemia, Decreased mean corpuscular volume, Poikilocytosis OMIM:616959
Acquired Idiopathic Sideroblastic Anemia
Hyposegmentation of neutrophil nuclei, Leukocytosis, Normocytic anemia, Hypochromic anemia, Neutr... ORPHA:75564
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Hyperammonemia, Tubulointerstitial nephritis, Methylmalonic acidemia, Pancreatitis, Hepatomegaly,... OMIM:251000
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Hepatosplenomegaly, Decreased mean corpuscular volume, Reticulocytosis, Hemolytic anemia OMIM:611590
Orotic Aciduria
Anisocytosis, Pyrimidine-responsive megaloblastic anemia, Folate-unresponsive megaloblastic anemi... OMIM:258900
Citrullinemia Type Ii
Hepatocellular carcinoma, Hypoproteinemia, Pancreatitis, Acute hyperammonemia, Hepatic fibrosis, ... ORPHA:247585
Polycythemia Vera
Leukocytosis, Increased red blood cell mass, Splenomegaly, Thrombocytopenia, Increased hematocrit... OMIM:263300
Anemia, Sideroblastic, 5
Anemia, Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia OMIM:619523
Pancreatic hypoplasia, Abnormality of abdominal situs, Abnormality of the spleen, Intestinal malr... ORPHA:1666
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
High palate, Pancreatitis, Hypermethioninemia, Homocystinuria, Hyperhomocystinemia, Hepatic steat... OMIM:236200
Cach Syndrome
Hepatosplenomegaly, Pancreatitis, Nonketotic hyperglycinemia, Optic neuritis ORPHA:135
Primary Lipodystrophy
Pancreatitis, Polycystic ovaries, Cirrhosis, Hyperlipidemia, Hepatic steatosis, Splenomegaly ORPHA:90970
Dyskeratosis Congenita, Autosomal Dominant 1
Leukopenia, Aplastic anemia, Anemia, Lymphopenia, Increased mean corpuscular volume, Thrombocytop... OMIM:127550
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Increased mean corpuscular volume, Megaloblastic anemia OMIM:277410
Asplenia, Isolated Congenital
Howell-Jolly bodies, Asplenia, Thrombocytosis OMIM:271400
Adult Acute Respiratory Distress Syndrome
Pancreatitis, Pneumonia ORPHA:70578
Spherocytosis, Type 5
Reticulocytosis, Hemolytic anemia, Abnormal platelet count, Abnormal leukocyte count, Spherocytos... OMIM:612690
Glycogen Storage Disease Ib
Hepatocellular carcinoma, Inflammation of the large intestine, Gout, Hyperuricemia, Pancreatitis,... OMIM:232220
Familial Partial Lipodystrophy, Dunnigan Type
Pancreatitis, Polycystic ovaries, Hepatomegaly, Hypertriglyceridemia, Hepatic steatosis, Splenome... ORPHA:2348
Pparg-Related Familial Partial Lipodystrophy
Hyperuricemia, Polycystic ovaries, Pancreatitis, Hepatomegaly, Cirrhosis, Hypertriglyceridemia, H... ORPHA:79083
Chronic Myeloid Leukemia
Myeloproliferative disorder, Leukocytosis, Abnormal granulocyte morphology, Thrombocytopenia, Abn... ORPHA:521
Hjv Or Hamp-Related Hemochromatosis
Elevated transferrin saturation, Congenital hepatic fibrosis, Abnormality of iron homeostasis, In... ORPHA:79230
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Jaundice, Hyperuricemia, Pyloric stenosis, Arthritis, Abnormality of exocrine pancreas physiology... ORPHA:93111
Rh Deficiency Syndrome
Hepatosplenomegaly, Anisocytosis, Reticulocytosis, Hemolytic anemia, Hypochromia, Macrocytic anem... ORPHA:71275
Diamond-Blackfan Anemia 7
Increased mean corpuscular volume, Macrocytic anemia, Neutropenia OMIM:612562
Perlman Syndrome
Cryptorchidism, Hepatomegaly, Abnormal pancreas morphology, High, narrow palate ORPHA:2849
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Hepatosplenomegaly, Anal fissure, Ulcerative colitis, Lymphadenitis, Acute pancreatitis, Recurren... OMIM:618935
Hypocalciuric Hypercalcemia, Familial, Type Iii
Peptic ulcer, Hypophosphatemia, Pancreatitis, Hypermagnesemia, Primary hyperparathyroidism, Hyper... OMIM:600740
Legionnaires Disease
Myocarditis, Jaundice, Endocarditis, Pancreatitis, Hyponatremia, Hepatitis, Infectious encephalit... ORPHA:549
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease
Abnormal liver parenchyma morphology, Hepatomegaly, Aplasia/Hypoplasia of the pancreas, Hypothyro... ORPHA:456312
Pigmented Nodular Adrenocortical Disease, Primary, 2
Pancreatitis, Ovarian cyst, Primary hypercortisolism, Increased circulating cortisol level OMIM:610475
Mirizzi Syndrome
Gallbladder perforation, Jaundice, Pancreatitis, Abnormality of the ductus choledochus, Cholester... ORPHA:521219
Rat-Bite Fever
Myocarditis, Morbilliform rash, Maculopapular exanthema, Oligoarthritis, Endocarditis, Skin rash,... ORPHA:31205
Bone Marrow Failure Syndrome 3
Aplastic anemia, Anemia, Persistence of hemoglobin F, Neutropenia, Increased mean corpuscular vol... OMIM:617052
Peripheral Primitive Neuroectodermal Tumor
Jaundice, Neoplasm of the pancreas, Pancreatitis, Elevated circulating alpha-fetoprotein concentr... ORPHA:370348
Juvenile Temporal Arteritis
Leukocytosis, Eosinophilia ORPHA:26137
Increased LDL cholesterol concentration, Gout, Hepatomegaly, Hypertriglyceridemia, Acute pancreat... ORPHA:412
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Methemoglobinemia, Polycythemia OMIM:250800
Microscopic Polyangiitis
Peritonitis, Skin rash, Pancreatitis, Uveitis, Arthritis, Episcleritis, Sinusitis, Increased infl... ORPHA:727
Systemic Capillary Leak Syndrome
Myocarditis, Pancreatitis, Pericarditis ORPHA:188
Nephronophthisis-Like Nephropathy 1
Chronic pancreatitis, Pancreatic cysts OMIM:613159
Primary Familial Polycythemia
Polycythemia, Abnormal hemoglobin ORPHA:90042
Pancreatic Agenesis-Holoprosencephaly Syndrome
High palate, Pancreatic aplasia, Absent gallbladder, Reduced C-peptide level, Hypoamylasemia ORPHA:556955
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Hepatosplenomegaly, Anisopoikilocytosis, Anemia, Decreased mean corpuscular volume, Reticulocytop... ORPHA:300298
Familial Chylomicronemia Syndrome
Hepatosplenomegaly, Jaundice, Recurrent pancreatitis, Hypertriglyceridemia, Acute pancreatitis, H... ORPHA:444490
Beta-Thalassemia Intermedia
Hepatosplenomegaly, Leukocytosis, Extramedullary hematopoiesis, Decreased mean corpuscular volume... ORPHA:231222
Hb Bart'S Hydrops Fetalis
Abnormal hemoglobin, Splenomegaly, Anemia ORPHA:163596
Pancreatic And Cerebellar Agenesis
Pancreatic hypoplasia, Pancreatic aplasia OMIM:609069
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Leukocytosis, Reduction of neutrophil motility, Impaired oxidative burst, Macrocytic anemia, Impa... OMIM:608203
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Peritonitis, Acute colitis, Pancreatitis, Hypokalemia, Unconjugated hyperbilirubinemia, Intussusc... ORPHA:90038
Renal Cysts And Diabetes Syndrome
Pancreatic hypoplasia, Biliary tract abnormality, Exocrine pancreatic insufficiency, Gout, Hyperu... OMIM:137920
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To
Reticulocytosis, Hemolytic anemia, Reduced erythrocyte adenosine triphosphate concentration, Stom... OMIM:301083
Shwachman-Diamond Syndrome
Normocytic anemia, Aplastic anemia, Leukopenia, Anemia, Leukemia, Chronic neutropenia, Neutropeni... ORPHA:811
Caroli Syndrome
Cholangitis, Jaundice, Liver abscess, Intrahepatic cholestasis, Pancreatitis, Abnormality of the ... ORPHA:480520
Acute Monoblastic/Monocytic Leukemia
Leukocytosis, Acute monocytic leukemia, Anemia, Hypochromic anemia, Lymphocytosis ORPHA:514
Diamond-Blackfan Anemia
Leukopenia, Pure red cell aplasia, Persistence of hemoglobin F, Neutropenia, Reticulocytopenia, I... ORPHA:124
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency
Pancreatitis, Iridocyclitis, Hypothyroidism ORPHA:412057
Igg4-Related Thyroid Disease
Graves disease, Goiter, Abnormality of the pituitary gland, Nodular goiter, Hypothyroidism, Hashi... ORPHA:64744
Acquired Generalized Lipodystrophy
Abnormal circulating lipid concentration, Polycystic ovaries, Hepatomegaly, Cirrhosis, Hypertrigl... ORPHA:79086
Acquired Partial Lipodystrophy
Lymphocytosis ORPHA:79087
Abnormal hemoglobin, Anemia, Microcytic anemia, Thrombocytopenia, Splenomegaly ORPHA:848
17Q12 Microdeletion Syndrome
Cryptorchidism, Pancreatic aplasia ORPHA:261265
Campomelia, Cumming Type
Pancreatic cysts, Polycystic liver disease, Polysplenia OMIM:211890
Glycogen Storage Disease Ia
Hepatocellular carcinoma, Gout, Hyperuricemia, Pancreatitis, Hepatomegaly, Hyperlipidemia OMIM:232200
Mccune-Albright Syndrome
Goiter, Elevated circulating growth hormone concentration, Hypophosphatemia, Hepatocellular adeno... ORPHA:562
Stomatocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia OMIM:185020
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction
Elevated hemoglobin A1c, Exocrine pancreatic insufficiency OMIM:609812
16Q24.3 Microdeletion Syndrome
Increased mean corpuscular volume, Thrombocytopenia ORPHA:261250
Lysinuric Protein Intolerance
Hyperlysinuria, Hyperalaninemia, Hepatomegaly, Argininuria, Hepatosplenomegaly, Increased LDL cho... ORPHA:470
Cystic Fibrosis
Hepatosplenomegaly, Ileus, Chronic sinusitis, Steatorrhea, Pancreatitis, Meconium ileus, Hepatome... OMIM:219700
Unclassified Myelodysplastic Syndrome
Leukocytosis, Acute myeloid leukemia ORPHA:98827
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis
Elliptocytosis, Anemia of inadequate production, Hemolytic anemia OMIM:166910
Peritonitis, Myocarditis, Abnormality of the spleen, Endocarditis, Lymphadenitis, Sinusitis, Kera... ORPHA:2552
Primary Triglyceride Deposit Cardiomyovasculopathy
Inflammatory abnormality of the skin, Pancreatitis, Hepatomegaly, Elevated circulating creatine k... ORPHA:565612
Lysinuric Protein Intolerance
Hyperammonemia, Hyperlysinuria, Pancreatitis, Hepatomegaly, Intraalveolar phospholipid accumulati... OMIM:222700
Erythrocytosis, Familial, 8
Increased hematocrit, Polycythemia, Increased hemoglobin, Splenomegaly OMIM:222800
Isolated Permanent Neonatal Diabetes Mellitus
Pancreatic hypoplasia, Reduced pancreatic beta cells ORPHA:99885
Multiple Acyl-Coa Dehydrogenase Deficiency
Hyperammonemia, Elevated circulating acylcarnitine concentration, Hepatomegaly, Elevated circulat... ORPHA:26791
Erythrocytosis, Familial, 3
Increased hematocrit, Increased hemoglobin, Increased red blood cell mass OMIM:609820
Igg4-Related Pachymeningitis
Pancreatitis, Lymphadenitis, Parotitis, Sinusitis, Elevated circulating C-reactive protein concen... ORPHA:449427
Diamond-Blackfan Anemia 1
Persistence of hemoglobin F, Reticulocytopenia, Macrocytic anemia, Increased mean corpuscular vol... OMIM:105650
Histiocytosis-Lymphadenopathy Plus Syndrome
Hepatosplenomegaly, Pancreatic hypoplasia, Retroperitoneal fibrosis, Hepatomegaly, Decreased resp... OMIM:602782
Pyropoikilocytosis, Hereditary
Microspherocytosis, Pyropoikilocytosis, Elliptocytosis, Hemolytic anemia OMIM:266140
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Hepatosplenomegaly, Decreased proportion of CD3-positive T cells, Autoimmune thrombocytopenia, Ne... ORPHA:169154
Immunodeficiency 14B, Autosomal Recessive
Leukocytosis, B lymphocytopenia, Thrombocytosis, Neutrophilia, Monocytosis OMIM:619281
Spherocytosis, Type 3
Spherocytosis, Hemolytic anemia OMIM:270970
Familial Mediterranean Fever
Peritonitis, Oral leukoplakia, Orchitis, Skin rash, Malabsorption, Pancreatitis, Erysipelas, Inte... ORPHA:342
Seckel Syndrome 10
Elevated circulating follicle stimulating hormone level, Hypertriglyceridemia, Acute pancreatitis... OMIM:617253
Aicardi-Goutieres Syndrome 9
Hepatosplenomegaly, Hepatic fibrosis, Hepatomegaly, Chilblains, Acute pancreatitis, Portal hypert... OMIM:619487
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
Anisocytosis OMIM:604273
Primary Sclerosing Cholangitis
Cholestasis, Hepatomegaly, Abnormal biliary tract morphology, Cholelithiasis, Hepatosplenomegaly,... ORPHA:171
Schimke Immuno-Osseous Dysplasia
Abnormal intestine morphology, Pancreatitis, Hyperlipidemia, Abnormality of thyroid physiology, M... ORPHA:1830
Erythrocytosis, Familial, 6
Increased hematocrit, Increased hemoglobin, Polycythemia OMIM:617980
Erythrocytosis, Familial, 7
Increased hematocrit, Polycythemia OMIM:617981
Pauci-Immune Glomerulonephritis
Glomerulonephritis, Tubulointerstitial nephritis, Crescentic glomerulonephritis, Scleritis, Pancr... ORPHA:93126
Liver Disease, Severe Congenital
Peritonitis, Elevated circulating alpha-fetoprotein concentration, Hyperalaninemia, Protein-losin... OMIM:619991
Ebola Hemorrhagic Fever
Hepatitis, Acute pancreatitis, Maculopapular exanthema ORPHA:319218
Dominant Beta-Thalassemia
Hepatosplenomegaly, Anisocytosis, Extramedullary hematopoiesis, Decreased mean corpuscular volume... ORPHA:231226
Visceral Myopathy 1
Megaduodenum, Pancreatitis, Aganglionic megacolon, Intestinal pseudo-obstruction, Microcolon OMIM:155310
Familial Hypocalciuric Hypercalcemia
Renal hypophosphatemia, Peptic ulcer, Pancreatitis, Hypocalcemic seizures, Hypermagnesemia, Hyper... ORPHA:405
Hepatic fibrosis, Decreased circulating copper concentration, Cirrhosis, Abnormal pancreas morpho... ORPHA:48818
Bardet-Biedl Syndrome 20
Pancreatitis, Bilateral cryptorchidism, Hypercholesterolemia OMIM:619471
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hepatosplenomegaly, Anisocytosis, Reticulocytosis, Leukocytosis, Hemolytic anemia, Elliptocytosis... OMIM:618278
Familial Adenomatous Polyposis
Goiter, Biliary tract obstruction, Colon cancer, Adenocarcinoma of the small intestine, Multiple ... ORPHA:733
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Pancreatitis, Polycystic ovaries, Hepatomegaly, Hypertriglyceridemia, Decreased HDL cholesterol c... ORPHA:280365
Pancreatic Colipase Deficiency
Steatorrhea, Cholelithiasis, Fat malabsorption, Exocrine pancreatic insufficiency ORPHA:309108
Igg4-Related Ophthalmic Disease
Cholangitis, Orchitis, Abnormality of the anterior pituitary, Colon cancer, Pancreatitis, Retrope... ORPHA:449563
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hepatocellular carcinoma, Inflammation of the large intestine, Hepatocellular adenoma, Gout, Hype... ORPHA:79259
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Pancreatic hypoplasia, Aplasia/Hypoplasia of the gallbladder, Anterior pituitary agenesis, Congen... ORPHA:2255
Lymphoproliferative Syndrome, X-Linked, 1
Aplastic anemia, Hemophagocytosis, Thrombocytopenia, Pancytopenia, Lymphocytosis, Splenomegaly, N... OMIM:308240
Hyperparathyroidism-Jaw Tumor Syndrome
Hypercalcemia, Peptic ulcer, Hypophosphatemia, Pancreatitis, Pancreatic adenocarcinoma, Abnormali... ORPHA:99880
Ovalocytosis, Southeast Asian
Elliptocytosis, Hemolytic anemia OMIM:166900
Leukocyte Adhesion Deficiency, Type Iii
Hepatosplenomegaly, Leukocytosis, Extramedullary hematopoiesis, Anemia, Splenomegaly OMIM:612840
Acute Panmyelosis With Myelofibrosis
Lymphocytosis, Pancytopenia, Acute myelomonocytic leukemia, Splenomegaly, Acute myeloid leukemia ORPHA:86843
Igg4-Related Kidney Disease
Chronic sinusitis, Inflammatory abnormality of the skin, Abnormality of mesentery morphology, Scl... ORPHA:449395
Immunodeficiency 27A
Hepatosplenomegaly, Leukocytosis, Anemia, Histiocytosis, Thrombocytosis, Splenomegaly OMIM:209950
Beta-Thalassemia Major
Hepatosplenomegaly, Anisopoikilocytosis, Extramedullary hematopoiesis, Decreased mean corpuscular... ORPHA:231214
Parathyroid Carcinoma
Hypercalcemia, Peptic ulcer, Parathyroid carcinoma, Hypophosphatemia, Pancreatitis, Pancreatic ad... ORPHA:143
Alpha-Fetoprotein, Hereditary Persistence Of
Elevated circulating alpha-fetoprotein concentration OMIM:615970
Feingold Syndrome
Esophageal atresia, Duodenal atresia, Annular pancreas, Abnormality of the spleen ORPHA:1305
Elliptocytosis 2
Reticulocytosis, Hemolytic anemia, Elliptocytosis OMIM:130600
Pancreatic insufficiency, combined exocrine
Hypoproteinemia, Anal atresia, Exocrine pancreatic insufficiency OMIM:260450
Immunodeficiency 92
Decreased proportion of class-switched memory B cells, Leukocytosis, B lymphocytopenia, Lymphocyt... OMIM:619652
Lipodystrophy, Familial Partial, Type 2
Polycystic ovaries, Hepatomegaly, Hypertriglyceridemia, Acute pancreatitis, Decreased HDL cholest... OMIM:151660
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Pancreatic hypoplasia, Superficial dermal perivascular inflammatory infiltrate, Cryptorchidism, P... ORPHA:83617
Renal-Hepatic-Pancreatic Dysplasia 1
Biliary cirrhosis, Asplenia, Cholestasis, Bile duct proliferation, Hepatic fibrosis, Hepatomegaly... OMIM:208540
Peritonitis, Myocarditis, Endocarditis, Pancreatitis, Colitis, Gastritis, Hepatitis, Sinusitis, I... ORPHA:73263
Behçet Disease
Orchitis, Optic neuritis, Endocarditis, Malabsorption, Pancreatitis, Recurrent aphthous stomatiti... ORPHA:117
Trichohepatoneurodevelopmental Syndrome
Macroglossia, High palate, Recurrent pancreatitis, Hypoplastic nipples, Steatorrhea, Hepatomegaly... OMIM:618268
Cinca Syndrome
Hepatosplenomegaly, Leukocytosis, Eosinophilia, Anemia OMIM:607115
Igg4-Related Submandibular Gland Disease
Cholangitis, Abnormality of the submandibular glands, Abnormal salivary gland morphology, Xerosto... ORPHA:449432
Glycogen Storage Disease Ic
Chronic pancreatitis, Hepatocellular carcinoma, Inflammation of the large intestine, Stomatitis, ... OMIM:232240
Yellow Fever
Jaundice, Skin rash, Elevated circulating creatine kinase concentration, Hyperbilirubinemia, Acut... ORPHA:99829
Holoprosencephaly 12 With Or Without Pancreatic Agenesis
Absent gallbladder, High palate, Pancreatic aplasia, Exocrine pancreatic insufficiency OMIM:618500
Granulomatosis With Polyangiitis
Chronic otitis media, Pericarditis, Skin rash, Pancreatitis, Intestinal obstruction, Sinusitis, I... ORPHA:900
3-Hydroxy-3-Methylglutaric Aciduria
Jaundice, Hyperammonemia, Hyperuricemia, Hepatomegaly, Acute pancreatitis, Lipid accumulation in ... ORPHA:20
Peritonitis, Morbilliform rash, Abnormality of the liver, Skin rash, Pancreatitis, Arthritis, Pne... ORPHA:228123
Marburg Hemorrhagic Fever
Jaundice, Orchitis, Maculopapular exanthema, Hyperammonemia, Skin rash, Pancreatitis, Uveitis, Hy... ORPHA:99826
Hereditary Methemoglobinemia
Methemoglobinemia ORPHA:621
Multiple Endocrine Neoplasia Type 4
Pituitary prolactin cell adenoma, Elevated circulating growth hormone concentration, Peptic ulcer... ORPHA:276152
Heart Defects, Congenital, And Other Congenital Anomalies
Pancreatic hypoplasia, Colon perforation, Biliary atresia, Absent gallbladder, Intestinal malrota... OMIM:600001
Nephronophthisis 13
Intrahepatic bile duct dilatation, Pancreatic cysts, Hepatic cysts OMIM:614377
Toxic Epidermal Necrolysis
Malabsorption, Pancreatitis, Intestinal perforation, Tracheoesophageal fistula, Conjunctivitis ORPHA:537
Congenital Alveolar Capillary Dysplasia
Anal atresia, Intestinal malrotation, Asplenia, Volvulus, Aganglionic megacolon, Absent gallbladd... ORPHA:210122
Infection-Related Hemolytic Uremic Syndrome
Myocarditis, Acute colitis, Pancreatitis, Hyperkalemia, Septic arthritis, Intussusception, Pneumo... ORPHA:544482
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Leukocytosis, Splenomegaly OMIM:618042
Jaundice, Pancreatic calcification, Elevated maternal serum alpha-fetoprotein ORPHA:677
Neutral Lipid Storage Myopathy
Chronic pancreatitis, Hepatomegaly, Abnormal circulating creatine kinase concentration, Hypertrig... ORPHA:98908
Methemoglobinemia And Ambiguous Genitalia
Methemoglobinemia OMIM:250790
Primary Myelofibrosis
Hepatosplenomegaly, Leukocytosis, Extramedullary hematopoiesis, Anemia, Thrombocytopenia, Pancyto... ORPHA:824
Glycerol Kinase Deficiency
Chronic pancreatitis, Cryptorchidism, Hypertriglyceridemia, Adrenal insufficiency, Hyperglycerolemia OMIM:307030
Stevens-Johnson Syndrome
Pancreatitis, Conjunctivitis, Esophageal stricture ORPHA:36426
Idiopathic Hypereosinophilic Syndrome
Hepatosplenomegaly, Cholangitis, Inflammatory abnormality of the skin, Chronic hepatitis, Malabso... ORPHA:3260
Senior-Loken Syndrome 8
Intrahepatic bile duct dilatation, Pancreatic cysts, Hepatic cysts OMIM:616307
Combined Immunodeficiency Due To Zap70 Deficiency
Hepatosplenomegaly, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Eosinophilia, Lymph... ORPHA:911
Shwachman-Diamond Syndrome 2
High palate, Steatorrhea, Hepatomegaly, Hyperechogenic pancreas, Exocrine pancreatic insufficiency OMIM:617941
Red Cell Permeability Defect
Elliptocytosis OMIM:179650
Acrocephalopolydactylous Dysplasia
Hepatic fibrosis, Hepatomegaly, Polysplenia, Hypoplastic colon, Pancreatic fibrosis, Hypoplasia o... OMIM:200995
Lipodystrophy, Congenital Generalized, Type 1
Polycystic ovaries, Hepatomegaly, Cirrhosis, Hypertriglyceridemia, Acute pancreatitis, Hepatic st... OMIM:608594
Lipodystrophy, Congenital Generalized, Type 2
Polycystic ovaries, Hepatomegaly, Cirrhosis, Hypertriglyceridemia, Acute pancreatitis, Hepatic st... OMIM:269700
Onychotrichodysplasia And Neutropenia
Chronic neutropenia, Lymphocytosis, Neutropenia OMIM:258360
Pseudo-Torch Syndrome 3
Congenital thrombocytopenia, Leukocytosis, Anemia OMIM:618886
Castleman Disease
Decreased mean corpuscular volume, Thrombocytopenia, Anemia ORPHA:160
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
HbH hemoglobin, Microcytic anemia ORPHA:98791
Eosinophilic Gastroenteritis
Leukocytosis, Eosinophilia, Anemia ORPHA:2070
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Pancreatic fibrosis OMIM:615503
Sickle Cell Disease
Leukocytosis, Target cells, Hemolytic anemia, Splenic infarction, Splenomegaly, Increased red cel... OMIM:603903
Hypoparathyroidism, Intestinal pseudo-obstruction, Recurrent pancreatitis, Hypothyroidism ORPHA:550
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Jaundice, Nephritis, Bile duct proliferation, Hepatic fibrosis, Conjugated hyperbilirubinemia, Pa... OMIM:208500
Atelosteogenesis Type I
Malrotation of colon, Abnormal pancreatic duct morphology, Cleft palate ORPHA:1190
Crimean-Congo Hemorrhagic Fever
Myocarditis, Morbilliform rash, Jaundice, Orchitis, Hepatomegaly, Elevated circulating creatine k... ORPHA:99827
Acquired Methemoglobinemia
Methemoglobinemia ORPHA:464453
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1
Hypothyroidism, Steatorrhea, Hepatic fibrosis, Hepatomegaly, Hepatic steatosis, Pancreatic fibros... OMIM:616263
Scorpion Envenomation
Myocarditis, Increased circulating creatine kinase MB isoform, Increased circulating NT-proBNP co... ORPHA:466677
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Decreased proportion of memory B cells, Reduced natural killer cell count, Perianal abscess, Lymp... OMIM:301074
Systemic Mastocytosis With Associated Hematologic Neoplasm
Myeloproliferative disorder, Leukocytosis, Myeloid leukemia, Normocytic anemia, Chronic myelomono... ORPHA:98849
Spondyloepimetaphyseal Dysplasia, Krakow Type
Eczema, High palate, Allergic rhinitis, Annular pancreas OMIM:618162
Autosomal Dominant Polycystic Kidney Disease
Pyelonephritis, Pancreatic cysts, Polycystic liver disease, Pituitary growth hormone cell adenoma... ORPHA:730
Pearson Marrow-Pancreas Syndrome
Malabsorption, Steatorrhea, Villous atrophy, Hepatomegaly, Macronodular cirrhosis, Punctate kerat... OMIM:557000
Meckel Syndrome, Type 7
Hepatosplenomegaly, Cholestasis, Bile duct proliferation, Portal hypertension, Pancreatic cysts, ... OMIM:267010
Diffuse Cutaneous Mastocytosis
Myeloproliferative disorder, Lymphocytosis, Abnormality of the spleen ORPHA:79456
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin
Persistence of hemoglobin F OMIM:617101
Congenital Erythropoietic Porphyria
Anisocytosis, Reticulocytosis, Leukopenia, Hemolytic anemia, Thrombocytopenia, Erythroid hyperpla... ORPHA:79277
Eisenmenger Syndrome
Hypochromic microcytic anemia, Iron deficiency anemia, Increased mean corpuscular volume, Brain a... ORPHA:97214
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatic fibrosis, Hepatomegaly, Periportal fibrosis, Esophageal varix, Portal hypertension, Pancr... OMIM:263200
Shwachman-Diamond Syndrome 1
Anemia, Persistence of hemoglobin F, Neutropenia, Thrombocytopenia, Pancytopenia, Acute myeloid l... OMIM:260400
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Persistence of hemoglobin F OMIM:619769
Wolcott-Rallison Syndrome
Iron deficiency anemia, Lymphocytosis, Neutropenia ORPHA:1667
Autoimmune Lymphoproliferative Syndrome
Neutropenia in presence of anti-neutropil antibodies, Reticulocytosis, Abnormal proportion of CD4... ORPHA:3261
Imbalanced hemoglobin synthesis, Leukemia, Aplastic anemia, Pure red cell aplasia ORPHA:99867
X-Linked Lymphoproliferative Disease
Hepatosplenomegaly, Absent natural killer cells, Aplastic anemia, Hemophagocytosis, Granulomatosi... ORPHA:2442
Bohring-Opitz Syndrome
Unilateral cleft palate, Supernumerary nipple, Narrow palate, Bilateral cleft palate, Hyperechoge... OMIM:605039
Pearson Syndrome
Hypoplastic spleen, Hypophosphatemia, Abnormality of the liver, Median cleft lip and palate, Hypo... ORPHA:699
Von Hippel-Lindau Syndrome
Neoplasm of the pancreas, Hepatic hemangioma, Pheochromocytoma, Pancreatic cysts OMIM:193300
Beckwith-Wiedemann Syndrome
Macroglossia, Cryptorchidism, Hepatomegaly, Hepatoblastoma, Pancreatic hyperplasia OMIM:130650
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome
HbH hemoglobin ORPHA:423479
Feingold Syndrome 1
Esophageal atresia, High palate, Asplenia, Duodenal atresia, Jejunal atresia, Polysplenia, Access... OMIM:164280
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Hepatic fibrosis, Cleft palate, Hamartoma of tongue, Microglossia, Pancreatic fibrosis, Intestina... OMIM:263520
Drug Reaction With Eosinophilia And Systemic Symptoms
Lymphocytosis, Eosinophilia ORPHA:139402
Lead Poisoning
Anemia, Imbalanced hemoglobin synthesis, Abnormal T cell morphology ORPHA:330015
Meckel Syndrome
Cryptorchidism, Aplasia/Hypoplasia of the tongue, Asplenia, Congenital hepatic fibrosis, Cleft pa... ORPHA:564
Lipodystrophy, Familial Partial, Type 7
Hypertriglyceridemia, Recurrent pancreatitis, Hypercholesterolemia OMIM:606721
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Thrombocytopenia, Lymphocytosis, Decreased mean platelet volume OMIM:617718
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder
Ankyloglossia, Annular pancreas, Cleft palate ORPHA:488642
Cogan Syndrome
Thrombocytosis, Leukocytosis, Anemia ORPHA:1467
Recurrent cutaneous abscess formation, Leukocytosis ORPHA:764
Beckwith-Wiedemann Syndrome
Macroglossia, Cryptorchidism, Elevated circulating alpha-fetoprotein concentration, Pseudohypopar... ORPHA:116
Jacobsen Syndrome
Cryptorchidism, Annular pancreas, Pyloric stenosis OMIM:147791
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Abnormal hemoglobin, Anemia ORPHA:847
Rothmund-Thomson Syndrome, Type 2
Anteriorly placed anus, High palate, Cryptorchidism, Annular pancreas OMIM:268400
Distal Deletion 12Q
Esophageal atresia, Late onset atopic dermatitis, Pyloric stenosis, Duodenal atresia, High, narro... ORPHA:96149
Fanconi Anemia, Complementation Group D2
Tracheoesophageal fistula, Esophageal atresia, Cryptorchidism, Annular pancreas OMIM:227646
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:301040
Trisomy 8P
Aplasia/Hypoplasia of the gallbladder, Cryptorchidism, Bifid uvula, Cleft palate, Malrotation of ... ORPHA:264450
Jacobsen Syndrome
Cryptorchidism, Duodenal atresia, Pyloric stenosis, Abnormality of the anus, Eczema, Ectopic anus... ORPHA:2308
Fryns Syndrome
Esophageal atresia, Cryptorchidism, Anal atresia, Duodenal atresia, Polysplenia, Cleft palate, Ag... OMIM:229850
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
High palate, Cryptorchidism, Duodenal atresia, Furrowed tongue, Annular pancreas OMIM:616975
Bohring-Opitz Syndrome
Cholelithiasis, Annular pancreas, Cleft palate ORPHA:97297
Alström Syndrome
Hepatomegaly, Elevated circulating thyroid-stimulating hormone concentration, Hepatosplenomegaly,... ORPHA:64
Kikuchi-Fujimoto Disease
Leukopenia, Anemia, Thrombocytopenia, Lymphocytosis, Splenomegaly, Neutropenia ORPHA:50918
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Congenital shortened small intestine, Esophageal atresia, Anal atresia, Asplenia, Duodenal atresi... OMIM:265380
Alpha-Fetoprotein Deficiency
Decreased circulating alpha-fetoprotein concentration OMIM:615969
Schinzel-Giedion Syndrome
Macroglossia, High palate, Anteriorly placed anus, Central hypothyroidism, Aganglionic megacolon,... ORPHA:798
1P36 Deletion Syndrome
Cryptorchidism, Abnormal intestine morphology, Pyloric stenosis, Abnormality of the liver, Abnorm... ORPHA:1606


Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Cpa1

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Cpa1.

No publications found that use IMPC mice or data for Cpa1.

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MGI Allele Allele Type Produced
Cpa1tm1e(KOMP)Mbp Targeted, non-conditional allele ES Cells
Cpa1tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Cpa1em1(IMPC)Marc Deletion Mice
Cpa1tm1a(KOMP)Mbp KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Cpa1tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells

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