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Gene: Cpa1 MGI:88478

Gene Summary

Name:

carboxypeptidase A1, pancreatic

Synonyms:

0910001L12Rik

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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	Allele	Zyg	Life Stage	P Value
increased leukocyte cell number	Cpa1^{em1(IMPC)Marc}	HOM	Early adult	8.09×10^-06
increased mean corpuscular hemoglobin	Cpa1^{em1(IMPC)Marc}	HOM	Early adult	1.92×10^-10
decreased red blood cell distribution width	Cpa1^{em1(IMPC)Marc}	HOM	Early adult	1.32×10^-05
increased mean corpuscular volume	Cpa1^{em1(IMPC)Marc}	HOM	Early adult	1.09×10^-06
increased lymphocyte cell number	Cpa1^{em1(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.

Human diseases associated with Cpa1 (1 diseases)
Human diseases predicted to be associated with Cpa1 (362 diseases)

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

Disease	Similarity of phenotypes	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	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
Pentosuria	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
Delta-Beta-Thalassemia	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
Beta-Thalassemia	Hypochromic microcytic anemia, Reduced beta/alpha synthesis ratio	OMIM:613985
Alpha-Thalassemia	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
Alpha-Thalassemia	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
Mody	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
Dextrocardia	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
Dysbetalipoproteinemia	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
Beta-Thalassemia	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
Cryohydrocytosis	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
Microsporidiosis	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
Aceruloplasminemia	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
Zygomycosis	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
Coccidioidomycosis	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
Pancreatoblastoma	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
Melas	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
Thymoma	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
Pyomyositis	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

Histopathology

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.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele	Allele Type	Produced
Cpa1^{tm1e(KOMP)Mbp}	Targeted, non-conditional allele	ES Cells
Cpa1^{tm1a(KOMP)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Cpa1^{em1(IMPC)Marc}	Deletion	Mice
Cpa1^{tm1a(KOMP)Mbp}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Cpa1^{tm1e(KOMP)Wtsi}	Targeted, non-conditional allele	ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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