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Gene: Pcsk2 MGI:97512

Gene Summary

Name:

proprotein convertase subtilisin/kexin type 2

Synonyms:

SPC2, Nec-2, 6330411F23Rik, prohormone convertase 2, Nec2, PC2, Phpp-2

Order Alleles

IMPC Data Collections

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
abnormal coat/ hair morphology	Pcsk2^em1(IMPC)H	HOM	Early adult	4.29×10^-05
preweaning lethality, incomplete penetrance	Pcsk2^em1(IMPC)H	HOM	Early adult	0.00
increased circulating alanine transaminase level	Pcsk2^em1(IMPC)H	HET	Early adult	3.58×10^-12
limb grasping	Pcsk2^em1(IMPC)H	HOM	Early adult	5.69×10^-07
increased circulating amylase level	Pcsk2^em1(IMPC)H	HOM	Early adult	4.56×10^-07
increased circulating iron level	Pcsk2^em1(IMPC)H	HOM	Early adult	0.00
increased circulating cholesterol level	Pcsk2^em1(IMPC)H	HOM	Early adult	4.16×10^-09
decreased circulating glucose level	Pcsk2^em1(IMPC)H	HOM	Early adult	7.67×10^-08
increased circulating HDL cholesterol level	Pcsk2^em1(IMPC)H	HOM	Early adult	1.38×10^-06
abnormal locomotor behavior	Pcsk2^em1(IMPC)H	HOM	Early adult	4.19×10^-06
increased mean corpuscular volume	Pcsk2^em1(IMPC)H	HOM	Early adult	2.03×10^-06

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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.

MicroCT E18.5

Embryo reconstruction

4 Images

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Human diseases caused by Pcsk2 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 Pcsk2 (0 diseases)
Human diseases predicted to be associated with Pcsk2 (395 diseases)

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Pcsk2 by phenotypic similarity.

Disease	Matching phenotypes	Source
Muscle Cramps, Familial	Elevated circulating creatine kinase concentration	OMIM:158400
Isolated Asymptomatic Elevation Of Creatine Phosphokinase	Elevated circulating creatine kinase concentration	ORPHA:206599
Cramps, Familial Adolescent	Elevated circulating creatine kinase concentration	OMIM:218050
Hyperinsulinemic Hypoglycemia, Familial, 2	Hypoglycemia, Hyperinsulinemic hypoglycemia, Nesidioblastosis, Pancreatic islet-cell hyperplasia	OMIM:601820
Gcgr-Related Hyperglucagonemia	Cholelithiasis, Glucagonoma, Abnormal biliary tract morphology, Neoplasm of the pancreas, Increas...	ORPHA:438274
Hyperinsulinemic Hypoglycemia, Familial, 7	Hypoglycemia, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia,...	OMIM:610021
Insulinomatosis And Diabetes Mellitus	Insulinoma, Multiple pancreatic beta-cell adenomas, Type II diabetes mellitus, Hyperinsulinemic h...	OMIM:147630
Pancreatic Cancer, Susceptibility To, 5	Pancreatic adenocarcinoma, Melanoma	OMIM:618680
Hyperinsulinemic Hypoglycemia, Familial, 1	Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia	OMIM:256450
Serrated Polyposis Syndrome	Biliary tract neoplasm, Neoplasm of the large intestine, Pancreatic adenocarcinoma, Schwannoma, P...	ORPHA:157798
Melanoma-Pancreatic Cancer Syndrome	Pancreatic adenocarcinoma, Oropharyngeal squamous cell carcinoma, Melanoma, Squamous cell carcino...	OMIM:606719
Hereditary Breast And/Or Ovarian Cancer Syndrome	Prostate cancer, Melanoma, Primary peritoneal carcinoma, Ovarian neoplasm, Neoplasm of the pancre...	ORPHA:145
Pancreatic Cancer	Increased level of L-fucose in urine, Neoplasm of the pancreas	OMIM:260350
Anemia, Sideroblastic, 2, Pyridoxine-Refractory	Increased circulating ferritin concentration, Sideroblastic anemia, Hypochromia, Anemia, Elevated...	OMIM:205950
Li-Fraumeni Syndrome	Choriocarcinoma, Acute leukemia, Osteosarcoma, Prostate cancer, Nephroblastoma, Lung adenocarcino...	OMIM:151623
Mahvash Disease	Pancreatic alpha-cell hyperplasia, Recurrent pancreatitis, Type II diabetes mellitus, Increased g...	OMIM:619290
Hyperparathyroidism 2 With Jaw Tumors	Hyperparathyroidism, Parathyroid carcinoma, Pancreatic adenocarcinoma, Papillary renal cell carci...	OMIM:145001
Pentosuria	Abnormal circulating carbohydrate concentration, Abnormal circulating enzyme concentration	ORPHA:2843
Tropical Calcific Pancreatitis	Pancreatic calcification, Insulin-dependent but ketosis-resistant diabetes, Chronic pancreatitis,...	OMIM:608189
Li-Fraumeni Syndrome	Choriocarcinoma, Colon cancer, Stomach cancer, Melanoma, Hodgkin lymphoma, Acute myeloid leukemia...	ORPHA:524
Familial Melanoma	Melanoma, Neoplasm of the stomach, Neoplasm of the breast, Neoplasm of the pancreas	ORPHA:618
Hyperinsulinemic Hypoglycemia, Familial, 6	Hypoglycemic seizures, Abnormality of the pancreatic islet cells, Hyperinsulinemic hypoglycemia	OMIM:606762
Pancreatic Cancer, Susceptibility To, 1	Pancreatic adenocarcinoma	OMIM:606856
Pancreatic Cancer, Susceptibility To, 2	Neoplasm of the pancreas	OMIM:613347
Nut Midline Carcinoma	Ewing sarcoma, Neoplasm, Oropharyngeal squamous cell carcinoma, Pancreatoblastoma, Squamous cell ...	ORPHA:443167
Cholesterol-Ester Transfer Protein Deficiency	Hypotriglyceridemia, Increased HDL cholesterol concentration, Hyperlipidemia, Hyperlipoproteinemi...	ORPHA:79506
Insulinoma Tumor Suppressor Gene Locus	Insulinoma	OMIM:606960
Tropical Pancreatitis	Insulin-dependent but ketosis-resistant diabetes, Pancreatic adenocarcinoma, Chronic calcifying p...	ORPHA:103918
Glycogen Storage Disease Vi	Hyperlipidemia, Hypertriglyceridemia, Hypoglycemia, Hypercholesterolemia	OMIM:232700
Hypertriglyceridemia 2	Hypercholesterolemia, Hypertriglyceridemia, Decreased HDL cholesterol concentration	OMIM:619324
Diabetes Mellitus, Ketosis-Prone	Insulin resistance, Diabetes mellitus, Beta-cell dysfunction	OMIM:612227
Familial Adenomatous Polyposis 3	Meningioma, Pancreatic adenocarcinoma, Endometrial carcinoma, Duodenal adenocarcinoma, Prostate c...	OMIM:616415
Familial Partial Lipodystrophy, Köbberling Type	Insulin resistance, Hyperinsulinemia, Hepatic steatosis, Polycystic ovaries, Pancreatitis, Hepato...	ORPHA:79084
Apc-Related Attenuated Familial Adenomatous Polyposis	Osteoma, Fibrosarcoma, Desmoid tumors, Adrenocortical adenoma, Medulloblastoma, Multiple gastric ...	ORPHA:247806
Nthl1-Related Attenuated Familial Adenomatous Polyposis	Neoplasm of the skin, Meningioma, Pancreatic adenocarcinoma, Endometrial carcinoma, Duodenal aden...	ORPHA:454840
Lynch Syndrome 5	Hereditary nonpolyposis colorectal carcinoma, Endometrial carcinoma, Neoplasm of the pancreas, Ov...	OMIM:614350
Hemoglobin D Disease	Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno...	ORPHA:90039
Intrinsic Factor Deficiency	Megaloblastic erythroid hyperplasia, Increased mean corpuscular volume, Increased RBC distributio...	OMIM:261000
Gardner Syndrome	Colon cancer, Ampulla of Vater carcinoma, Hepatoblastoma, Brain neoplasm, Osteoma, Fibrosarcoma, ...	ORPHA:79665
Peutz-Jeghers Syndrome	Biliary tract neoplasm, Gastrointestinal carcinoma, Pancreatic adenocarcinoma, Neoplasm of the co...	ORPHA:2869
Xanthomatosis, Susceptibility To	Hypercholesterolemia	OMIM:602247
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Hyperinsulinemia, Hypoketotic hypoglycemia, Reactive hypoglycemia, Pancreatic islet-cell hyperpla...	ORPHA:276608
Desmoplastic Small Round Cell Tumor	Testicular neoplasm, Abnormal peritoneum morphology, Hepatomegaly, Sarcoma, Ovarian neoplasm, Neo...	ORPHA:83469
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Hypoglycemic seizures, Hyperinsul...	ORPHA:276580
Hyperinsulinemic Hypoglycemia, Familial, 5	Hypoglycemic seizures, Elevated circulating insulin:C-peptide ratio, Hyperinsulinemic hypoglycemi...	OMIM:609968
Coronary Artery Disease, Autosomal Dominant, 1	Hypercholesterolemia, Diabetes mellitus	OMIM:608320
Sitosterolemia 2	Hypercholesterolemia, Elevated circulating sitosterol concentration	OMIM:618666
Infantile Myofibromatosis	Neoplasm of the skin, Benign neoplasm of the central nervous system, Fibroma, Sarcoma, Gingival f...	ORPHA:2591
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency	Diffuse pancreatic islet hyperplasia, Increased circulating cortisol level, Recurrent hypoglycemi...	ORPHA:79644
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Hypoglycemic seizures, Hyperinsul...	ORPHA:276575
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy	Abnormal circulating insulin concentration, Hypoketotic hypoglycemia, Increased hepatic glycogen ...	ORPHA:293964
Transient Neonatal Diabetes Mellitus	Maturity-onset diabetes of the young, Hyperglycemia, Transient neonatal diabetes mellitus, Hypoth...	ORPHA:99886
Hypoinsulinemic Hypoglycemia With Hemihypertrophy	Fasting hypoglycemia, Hypoinsulinemia, Neonatal hypoglycemia, Hypoglycemia	OMIM:240900
Mody	Abnormal circulating insulin concentration, Abnormal oral glucose tolerance, Glycosuria, Insulin-...	ORPHA:552
Thyroid Hormone Metabolism, Abnormal, 2	Hypercholesterolemia	OMIM:619855
Von Hippel-Lindau Syndrome	Retinal capillary hemangioma, Pancreatic cysts, Pheochromocytoma, Paraganglioma, Multiple renal c...	OMIM:193300
Anemia, Hypochromic Microcytic, With Iron Overload 1	Increased circulating iron concentration, Erythroid hyperplasia, Hypochromia, Elevated hepatic ir...	OMIM:206100
Hyperinsulinemic Hypoglycemia, Familial, 3	Hypoglycemic seizures, Diabetes mellitus, Hyperinsulinemic hypoglycemia	OMIM:602485
Dehydrated Hereditary Stomatocytosis 2	Increased mean corpuscular volume, Increased mean corpuscular hemoglobin concentration, Hyperbili...	OMIM:616689
Familial Pancreatic Carcinoma	Peritoneal abscess, Colon cancer, Pancreatic adenocarcinoma, Exocrine pancreatic insufficiency, H...	ORPHA:1333
Polyendocrine-Polyneuropathy Syndrome	Central hypothyroidism, Hypoglycemia, Decreased serum testosterone concentration, Decreased testi...	ORPHA:453533
Familial Adenomatous Polyposis	Stomach cancer, Hepatoblastoma, Brain neoplasm, Osteoma, Desmoid tumors, Angiofibromas, Neoplasm ...	ORPHA:733
Familial Colorectal Cancer Type X	Uterine neoplasm, Pituitary adenoma, Pancreatic adenocarcinoma, Neoplasm of the colon, Stomach ca...	ORPHA:440437
Dehydrated Hereditary Stomatocytosis	Neonatal hyperbilirubinemia, Increased mean corpuscular volume, Polycythemia, Increased mean corp...	ORPHA:3202
Congenital Dyserythropoietic Anemia Type Iii	Increased circulating iron concentration, Increased mean corpuscular volume, Increased total iron...	ORPHA:98870
Morbid Obesity And Spermatogenic Failure	Insulin resistance, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentrat...	OMIM:615703
Hyperinsulinemic Hypoglycemia, Familial, 8	Hypoglycemia, Hyperinsulinemia, Hyperammonemia, Hypercholesterolemia, Hypoglycemic seizures, Incr...	OMIM:620211
Punctate Palmoplantar Keratoderma Type 1	Adenocarcinoma of the colon, Pancreatic adenocarcinoma, Stomach cancer, Prostate cancer, Esophage...	ORPHA:79501
Insulinoma	Abnormality of the pancreatic islet cells, Neuroendocrine neoplasm, Pituitary prolactin cell aden...	ORPHA:97279
Hyperinsulinism Due To Hnf1A Deficiency	Hypoglycemic seizures, Maturity-onset diabetes of the young, Hyperinsulinemia, Excessive insulin ...	ORPHA:324575
Congenital Glucokinase-Related Hyperinsulinism	Fasting hyperinsulinemia, Recurrent hypoglycemia, Hypoketotic hypoglycemia, Type II diabetes mell...	ORPHA:79299
Hjv Or Hamp-Related Hemochromatosis	Dilated cardiomyopathy, Abnormality of endocrine pancreas physiology, Hypogonadism, Congenital he...	ORPHA:79230
Multiple Endocrine Neoplasia Type 4	Increased circulating cortisol level, Pituitary prolactin cell adenoma, Increased urinary cortiso...	ORPHA:276152
Perlman Syndrome	Abnormal pancreas morphology, Capillary hemangioma, Hyperinsulinemia, Cryptorchidism, Nephroblast...	ORPHA:2849
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Increased circulating ferritin concentration, Hepatosplenomegaly, Erythroid hyperplasia, Type II ...	OMIM:616860
Lynch Syndrome	Neoplasm of the skin, Neoplasm of the skeletal system, Neoplasm of the rectum, Hematological neop...	ORPHA:144
Hyperlipoproteinemia, Type Ii, And Deafness	Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia	OMIM:144300
Lipodystrophy, Congenital Generalized, Type 3	Insulin resistance, Hepatosplenomegaly, Hypocalcemia, Splenomegaly, Hirsutism, Hypercholesterolem...	OMIM:612526
Vipoma	Follicular thyroid carcinoma, Increased circulating cortisol level, Increased circulating prolact...	ORPHA:97282
Isolated Growth Hormone Deficiency, Type Ia	Prolonged neonatal jaundice, Decreased serum insulin-like growth factor 1, Hypoglycemia, Reduced ...	OMIM:262400
Short Stature Due To Partial Ghr Deficiency	Decreased serum insulin-like growth factor 1, Delayed puberty, Hypoglycemia	ORPHA:314802
Hyperinsulinism Due To Insr Deficiency	Insulin resistance, Hypoglycemia, Fasting hyperinsulinemia, Recurrent hypoglycemia, Hyperinsuline...	ORPHA:263458
Peutz-Jeghers Syndrome	Gastrointestinal carcinoma, Uterine neoplasm, Bile duct polyp, Abnormality of the ureter, Ovarian...	OMIM:175200
Hyperinsulinism Due To Ucp2 Deficiency	Diffuse pancreatic islet hyperplasia, Hypoglycemic seizures, Recurrent hypoglycemia, Hypertrophic...	ORPHA:276556
Plin1-Related Familial Partial Lipodystrophy	Hepatic fibrosis, Hyperinsulinemia, Hepatic steatosis, Polycystic ovaries, Abnormal circulating h...	ORPHA:280356
Peripheral Primitive Neuroectodermal Tumor	Precocious puberty, Neoplasm of the scrotum, Uterine neoplasm, Neoplasm of the pancreas, Pancreat...	ORPHA:370348
Obesity Due To Prohormone Convertase I Deficiency	Hypoglycemic seizures, Decreased response to growth hormone stimulation test, Cholestasis, Hyperi...	ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency	Hypoglycemic seizures, Decreased response to growth hormone stimulation test, Cholestasis, Hyperi...	ORPHA:71526
Hyperinsulinemic Hypoglycemia, Familial, 4	Hypoglycemic seizures, Hyperinsulinemic hypoglycemia	OMIM:609975
Grfoma	Increased circulating cortisol level, Increased circulating prolactin concentration, Elevated cir...	ORPHA:97261
Progeria-Short Stature-Pigmented Nevi Syndrome	Decreased serum estradiol, Insulin-resistant diabetes mellitus, Decreased serum testosterone conc...	ORPHA:2959
Bone Marrow Failure And Diabetes Mellitus Syndrome	Type I diabetes mellitus, T-cell acute lymphoblastic leukemias, Increased mean corpuscular volume...	OMIM:620044
Somatostatinoma	Intrahepatic cholestasis, Pituitary adenoma, Adrenocortical adenoma, Increased circulating prolac...	ORPHA:97283
Congenital Disorder Of Glycosylation, Type Iip	Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi...	OMIM:616829
Ppoma	Intrahepatic cholestasis, Cholelithiasis, Intestinal carcinoid, Pituitary adenoma, Adrenocortical...	ORPHA:97278
Spinocerebellar Ataxia With Axonal Neuropathy Type 1	Hypoalbuminemia, Steppage gait, Hypercholesterolemia, Ataxia	ORPHA:94124
Familial Pseudohyperkalemia	Stomatocytosis, Increased mean corpuscular volume, Reticulocytosis, Episodic hemolytic anemia, Hy...	ORPHA:90044
Hypercholesterolemia, Familial, 4	Decreased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia	OMIM:603813
Von Hippel-Lindau Disease	Retinal capillary hemangioma, Elevated circulating catecholamine level, Cerebellar hemangioblasto...	ORPHA:892
Anemia, Hypochromic Microcytic, With Iron Overload 2	Increased circulating ferritin concentration, Sideroblastic anemia, Splenomegaly, Elevated hepati...	OMIM:615234
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Cardiomyopathy, Hypoglycemia	OMIM:609016
Bdv Syndrome	Central hypothyroidism, Decreased serum testosterone concentration, Hyperinsulinemia, Type II dia...	OMIM:619326
Obesity And Hypopigmentation	Hyperinsulinemia, Hepatic steatosis	OMIM:620195
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1	Hypoalbuminemia, Steppage gait, Hypercholesterolemia, Ataxia	OMIM:607250
Proprotein Convertase 1/3 Deficiency	Elevated circulating proinsulin concentration, Reactive hypoglycemia, Hypogonadotropic hypogonadi...	OMIM:600955
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Increased mean corpuscular volume, Pancytopenia, Acute myeloid leukemia, Thrombocytopenia, Neutro...	OMIM:619041
Glycogen Storage Disease Ixa1	Hypoglycemia, Splenomegaly, Hyperuricemia, Hypercholesterolemia, Hypertriglyceridemia	OMIM:306000
Hyperlipidemia, Familial Combined, 3	Xanthelasma, Increased LDL cholesterol concentration, Hyperlipidemia, Increased VLDL cholesterol ...	OMIM:144250
Hyperparathyroidism-Jaw Tumor Syndrome	Nephrocalcinosis, Elevated circulating parathyroid hormone level, Renal hamartoma, Pancreatic ade...	ORPHA:99880
Methylmalonic Aciduria And Homocystinuria, Cbld Type	Increased mean corpuscular volume, Hypomethioninemia, Spastic ataxia, Megaloblastic anemia, Hyper...	OMIM:277410
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1	Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia	OMIM:252270
Insulin Autoimmune Syndrome	Insulin resistance, Insulin-resistant diabetes mellitus, Reactive hypoglycemia, Nonketotic hypogl...	ORPHA:411593
Parathyroid Carcinoma	Nephrocalcinosis, Elevated circulating parathyroid hormone level, Renal hamartoma, Parathyroid ca...	ORPHA:143
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Hypoalbuminemia, Limb ataxia, Gait ataxia, Tremor, Elevated circulating creatine kinase concentra...	OMIM:208920
Bangstad Syndrome	Type I diabetes mellitus, Increased circulating cortisol level, Abnormality of the parathyroid gl...	ORPHA:1227
Cholestasis, Progressive Familial Intrahepatic, 10	Hypoalbuminemia, Increased total bilirubin, Splenomegaly, Increased serum bile acid concentration...	OMIM:619868
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Increased circulating iron concentration, Reduced red cell pyruvate kinase level, Increased circu...	ORPHA:766
Diarrhea 7, Protein-Losing Enteropathy Type	Hypoalbuminemia, Hyperlipidemia, Hypercholesterolemia	OMIM:615863
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis	Increased mean corpuscular volume, Elevated red cell adenosine deaminase activity, Persistence of...	OMIM:300946
Spinocerebellar Ataxia With Axonal Neuropathy Type 2	Hypoalbuminemia, Head tremor, Postural tremor, Gait imbalance, Elevated circulating creatine kina...	ORPHA:64753
Hypothyroidism, Congenital, Nongoitrous, 8	Hypercholesterolemia	OMIM:301033
Multiple Endocrine Neoplasia Type 1	Increased serum serotonin, Increased circulating cortisol level, Pituitary prolactin cell adenoma...	ORPHA:652
Pituitary Hormone Deficiency, Combined, 4	Impaired growth-hormone response to insulin stimulation test, Adrenal insufficiency, Hypothyroidi...	OMIM:262700
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Hypoalbuminemia, Increased mean corpuscular volume, Extramedullary hematopoiesis, Sideroblastic a...	OMIM:617021
Homozygous 11P15-P14 Deletion Syndrome	Renal tubular dysfunction, Generalized aminoaciduria, Hyperinsulinemia, Hypoglycemia	OMIM:606528
Thrombocytopenia 5	Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Neutropenia, Thrombocytopenia,...	OMIM:616216
Hypoglycemia, Leucine-Induced	Hyperinsulinemic hypoglycemia, Hypoglycemia	OMIM:240800
Lipodystrophy, Familial Partial, Type 3	Insulin resistance, Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Type II...	OMIM:604367
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Glycosuria, Hyperinsulinemia, Hypoketotic hypoglycemia, Pancreatic islet-cell hyperplasia, Increa...	ORPHA:263455
Glucagonoma	Intrahepatic cholestasis, Pituitary adenoma, Adrenocortical adenoma, Increased circulating prolac...	ORPHA:97280
Distal Myopathy, Tateyama Type	Abnormal circulating creatine kinase concentration, Hypercholesterolemia	ORPHA:488650
Post-Traumatic Pituitary Deficiency	Hypotension, Hypoglycemia, Decreased response to growth hormone stimulation test, Panhypopituitar...	ORPHA:95619
Hemochromatosis, Type 5	Abnormal circulating copper concentration, Increased circulating iron concentration, Abnormal cir...	OMIM:615517
Pituitary Hormone Deficiency, Combined, 2	Abnormal circulating adrenocorticotropin concentration, Hypogonadism, Panhypopituitarism, Adrenal...	OMIM:262600
Overhydrated Hereditary Stomatocytosis	Stomatocytosis, Increased mean corpuscular volume, Hyperbilirubinemia, Splenomegaly, Reticulocyto...	OMIM:185000
Hemoglobin E Disease	Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Splenomega...	ORPHA:2133
Estrogen Resistance	Breast aplasia, Hyperinsulinemia, Glucose intolerance, Increased serum estradiol, Polycystic ovar...	OMIM:615363
Diamond-Blackfan Anemia 3	Increased mean corpuscular volume, Elevated red cell adenosine deaminase activity, Persistence of...	OMIM:610629
Cancer-Associated Retinopathy	Small cell lung carcinoma, Thymoma, Uterine neoplasm, Cutaneous melanoma, Pancreatic adenocarcino...	ORPHA:71505
Diamond-Blackfan Anemia 8	Neutropenia, Increased mean corpuscular volume, Macrocytic anemia	OMIM:612563
Hyperproinsulinemia	Hyperglycemia, Hyperinsulinemia	OMIM:616214
Obesity Due To Congenital Leptin Deficiency	Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte...	ORPHA:66628
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Decreased testicular size, Hyperinsulinemia, Type II diabetes mellitus, Cryptorchidism, Polycysti...	ORPHA:3085
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency	Hypoglycemia, Hypertriglyceridemia	ORPHA:366
Ataxia With Vitamin E Deficiency	Ataxia, Xanthelasma, Increased LDL cholesterol concentration, Dysmetria, Gait disturbance, Hyperc...	OMIM:277460
Analbuminemia	Hypoalbuminemia, Increased LDL cholesterol concentration, Hypercholesterolemia, Elevated circulat...	OMIM:616000
Obesity Due To Leptin Receptor Gene Deficiency	Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte...	ORPHA:179494
Coronary Artery Disease, Autosomal Dominant 2	Glucose intolerance, Type II diabetes mellitus, Sudden cardiac death, Hypertension, Myocardial in...	OMIM:610947
Hyperinsulinism-Hyperammonemia Syndrome	Increased urine alpha-ketoglutarate concentration, Hyperinsulinemic hypoglycemia, Reactive hypogl...	ORPHA:35878
Congenital Disorder Of Glycosylation, Type Iio	Increased LDL cholesterol concentration, Hepatosplenomegaly, Splenomegaly, Elevated circulating c...	OMIM:616828
Carney Complex	Euthyroid multinodular goiter, Follicular thyroid carcinoma, Increased circulating cortisol level...	ORPHA:1359
Endocardial Fibroelastosis	Restrictive cardiomyopathy, Hypoglycemia, Congestive heart failure, Cryptorchidism, Anterior hypo...	ORPHA:2022
Iron Overload, Susceptibility To	Increased circulating ferritin concentration, Type II diabetes mellitus, Elevated hepatic iron co...	OMIM:620121
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency	Increased mean corpuscular volume, Pancytopenia, Megaloblastic anemia, Thrombocytopenia, Ataxia	OMIM:613839
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts	Increased circulating iron concentration, Increased circulating ferritin concentration, Hepatospl...	ORPHA:300298
Ataxia-Oculomotor Apraxia 4	Hypoalbuminemia, Hypercholesterolemia, Ataxia, Dystonia, Elevated circulating alpha-fetoprotein c...	OMIM:616267
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial	Impaired gluconeogenesis, Hepatic steatosis, Hypoglycemia	OMIM:261650
Aceruloplasminemia	Blepharospasm, Decreased circulating iron concentration, Increased circulating ferritin concentra...	OMIM:604290
Gitelman Syndrome	Type II diabetes mellitus, Parathyroid adenoma, Urinary incontinence, Tubulointerstitial nephriti...	ORPHA:358
Donohue Syndrome	Precocious puberty, Hepatic fibrosis, Postprandial hyperglycemia, Long penis, Cholestasis, Hyperg...	OMIM:246200
Sickle Cell Anemia	Splenic infarction, Hypochromic anemia, Increased mean corpuscular volume, Persistence of hemoglo...	ORPHA:232
Dyskeratosis Congenita	Lymphoma, Neoplasm, Splenomegaly, Displacement of the urethral meatus, Cirrhosis, Hyperhidrosis, ...	ORPHA:1775
Zollinger-Ellison Syndrome	Increased circulating cortisol level, Pituitary prolactin cell adenoma, Increased urinary cortiso...	ORPHA:913
Sitosterolemia 1	Stomatocytosis, Giant platelets, Hyperapobetalipoproteinemia, Xanthelasma, Reticulocytosis, Reduc...	OMIM:210250
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency	Hypoglycemia, Adrenal hyperplasia, Elevated circulating 21-deoxycortisol concentration, Adrenogen...	OMIM:201910
Methylcobalamin Deficiency Type Cble	Increased mean corpuscular volume, Pancytopenia, Macrocytic anemia, Hypomethioninemia, Hyperhomoc...	ORPHA:2169
Insulin-Resistance Syndrome Type B	Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Type II diabetes mellitus, ...	ORPHA:2298
X-Linked Sideroblastic Anemia	Anemia, Abnormality of iron homeostasis, Glucose intolerance, Splenomegaly	ORPHA:75563
Severe Neurodegenerative Syndrome With Lipodystrophy	Insulin resistance, Hyperinsulinemia, Hepatic steatosis, Cirrhosis, Hepatomegaly	ORPHA:363400
Morgagni-Stewart-Morel Syndrome	Action tremor, Hyperuricemia, Hirsutism, Hypercholesterolemia, Diabetes mellitus	ORPHA:77296
Dietary Iron Overload Disease	Hepatic bridging fibrosis, Hepatic fibrosis, Abnormal thyroid morphology, Increased circulating c...	ORPHA:139507
Hemochromatosis, Type 4	Impotence, Cardiomyopathy, Glucose intolerance, Hepatic steatosis, Arrhythmia, Cirrhosis, Hepatom...	OMIM:606069
Acquired Generalized Lipodystrophy	Insulin resistance, Lymphoma, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Hepatic stea...	ORPHA:79086
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1	Delayed puberty, Delayed thelarche, Hyperinsulinemic hypoglycemia, Diabetes mellitus	OMIM:616033
Neonatal Hemochromatosis	Increased circulating iron concentration, Hypoglycemia, Increased circulating ferritin concentration	ORPHA:446
Bone Marrow Failure Syndrome 6	Increased mean corpuscular volume, Persistence of hemoglobin F, Lymphopenia, Neutropenia, Anemia	OMIM:618849
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome	Neonatal insulin-dependent diabetes mellitus, Aplasia/Hypoplasia of the pancreas	ORPHA:65288
Hepatic Lipase Deficiency	Increased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia	OMIM:614025
Obesity Due To Melanocortin 4 Receptor Deficiency	Hyperinsulinemia, Type II diabetes mellitus	ORPHA:71529
Cholesteryl Ester Storage Disease	Hypercholesterolemia, Splenomegaly, Hypertriglyceridemia	ORPHA:75234
Mitochondrial Complex Iii Deficiency, Nuclear Type 3	Hepatomegaly, Hypoglycemia	OMIM:615158
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities	Precocious puberty, Postprandial hyperglycemia, Long penis, Insulin-resistant diabetes mellitus, ...	OMIM:262190
Glucocorticoid Resistance, Generalized	Irregular menstruation, Increased circulating cortisol level, Hypoglycemia, Increased circulating...	OMIM:615962
Short Fifth Metacarpals-Insulin Resistance Syndrome	Hyperinsulinemia, Splenomegaly	ORPHA:66518
Lipodystrophy, Familial Partial, Type 1	Insulin-resistant diabetes mellitus, Hyperglycemia, Hypertension, Hepatomegaly, Acute pancreatitis	OMIM:608600
Estrogen Resistance Syndrome	Absence of secondary sex characteristics, Breast hypoplasia, Hyperinsulinemia, Absence of puberta...	ORPHA:785
Galactokinase Deficiency	Hypoglycemia, Hepatosplenomegaly, Hyperinsulinemia, Hepatomegaly, Increased level of galactitol i...	ORPHA:79237
Combined Oxidative Phosphorylation Deficiency 34	Elevated circulating thyroid-stimulating hormone concentration, Hypoglycemia, Primary adrenal ins...	OMIM:617872
Obesity Due To Sim1 Deficiency	Hyperinsulinemia, Glucose intolerance	ORPHA:369873
Cog4-Cdg	Ataxia, Hepatosplenomegaly, Hypercholesterolemia, Thick hair, Thrombocytopenia	ORPHA:263501
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency	Hyperinsulinemia	ORPHA:329249
Solitary Fibrous Tumor	Hypoglycemia, Recurrent hypoglycemia, Neoplasm of the liver, Abnormal peritoneum morphology, Hypo...	ORPHA:2126
Hypogonadism, Male, With Impaired Intellectual Development And Skeletal Anomalies	Hyperglycemia, Male hypogonadism, Glucose intolerance, Hypergonadotropic hypogonadism	OMIM:307500
X-Linked Acrogigantism	Pituitary adenoma, Increased circulating prolactin concentration, Fasting hyperinsulinemia, Hypop...	ORPHA:300373
Mpi-Cdg	Hepatic fibrosis, Portal hypertension, Hypothyroidism, Hyperinsulinemic hypoglycemia, Hepatomegaly	ORPHA:79319
Cushing Syndrome Due To Ectopic Acth Secretion	Small cell lung carcinoma, Malignant gastrointestinal tract tumors, Increased circulating cortiso...	ORPHA:99889
Diamond-Blackfan Anemia 6	Increased mean corpuscular volume, Macrocytic anemia, Persistence of hemoglobin F	OMIM:612561
Refractory Anemia With Excess Blasts	Abnormal mean corpuscular volume, Leukocytosis, Anemia of inadequate production, Abnormal circula...	ORPHA:86839
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation	Hypercholesterolemia, Maturity-onset diabetes of the young	ORPHA:254531
Hypertriglyceridemia 1	Hypopituitarism, Glucose intolerance	OMIM:145750
Lipodystrophy, Familial Partial, Type 5	Decreased adiponectin level, Irregular menstruation, Hepatic steatosis, Hepatomegaly, Hypertensio...	OMIM:615238
Dyskeratosis Congenita, Autosomal Dominant 1	Alopecia, Aplastic anemia, Increased mean corpuscular volume, Premature graying of hair, Lymphope...	OMIM:127550
Thymic Neuroendocrine Tumor	Calcium nephrolithiasis, Pituitary adenoma, Neuroendocrine neoplasm, Pituitary prolactin cell ade...	ORPHA:97289
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Hepatosplenomegaly, Reticulocytosis, Hypokalemia, Decreased mean corpuscular volume, Hemolytic an...	OMIM:611590
Mitochondrial Complex Iii Deficiency, Nuclear Type 11	Pancreatitis, Hypoglycemia	OMIM:620137
Propionic Acidemia	Hepatomegaly, Cardiomyopathy, Hypoglycemia, Arrhythmia	ORPHA:35
Overhydrated Hereditary Stomatocytosis	Abnormal mean corpuscular volume, Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis...	ORPHA:3203
Body Mass Index Quantitative Trait Locus 20	Hyperinsulinemia	OMIM:618406
Oslam Syndrome	Abnormality of neutrophils, Increased mean corpuscular volume	ORPHA:2760
Congenital Generalized Lipodystrophy	Insulin resistance, Precocious puberty in females, Hyperinsulinemia, Hepatic steatosis, Polycysti...	ORPHA:528
Pituitary Adenoma 1, Multiple Types	Irregular menstruation, Pituitary adenoma, Pituitary prolactin cell adenoma, Increased circulatin...	OMIM:102200
Lipodystrophy, Familial Partial, Type 4	Insulin resistance, Insulin-resistant diabetes mellitus, Hepatic steatosis, Oligomenorrhea, Hyper...	OMIM:613877
Multiple Endocrine Neoplasia, Type I	Thyroid adenoma, Pituitary adenoma, Adrenocortical adenoma, Pituitary prolactin cell adenoma, Inc...	OMIM:131100
Apolipoprotein C-Ii Deficiency	Increased circulating chylomicron concentration, Splenomegaly, Hypercholesterolemia, Decreased ci...	OMIM:207750
Combined Oxidative Phosphorylation Deficiency 52	Hypoglycemia, Hypertrophic cardiomyopathy, Adrenal insufficiency, Hepatic steatosis, Pancreatitis	OMIM:619386
Shwachman-Diamond Syndrome	Normocytic anemia, Hypoamylasemia, Aplastic anemia, Leukemia, Increased mean corpuscular volume, ...	ORPHA:811
Hemochromatosis, Neonatal	Abnormality of iron homeostasis, Increased circulating iron concentration, Hypoglycemia, Increase...	OMIM:231100
Juvenile Polyposis Syndrome	Stomach cancer, Neoplasm of the gastrointestinal tract, Neoplasm of the pancreas, Juvenile gastro...	ORPHA:2929
Beta-Thalassemia Intermedia	Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomegaly, Erythroid hyperpla...	ORPHA:231222
Laron Syndrome	Hypercholesterolemia, Hypoglycemia	ORPHA:633
Pituitary Hormone Deficiency, Combined, 6	Ectopic posterior pituitary, Hypoglycemia, Decreased circulating ACTH concentration, Posterior pi...	OMIM:613986
Hypercholesterolemia, Familial, 3	Xanthelasma, Hypercholesterolemia, Abnormal LDL cholesterol concentration	OMIM:603776
Trichothiodystrophy 6, Nonphotosensitive	Broad-based gait, Tiger tail banding, Slow-growing hair, Brittle hair, Increased HbA2 hemoglobin,...	OMIM:616943
Pparg-Related Familial Partial Lipodystrophy	Insulin resistance, Insulin-resistant diabetes mellitus, Congestive heart failure, Hypertrophic c...	ORPHA:79083
Retinitis Pigmentosa And Erythrocytic Microcytosis	Decreased circulating iron concentration, Leukopenia, Elliptocytosis, Anisocytosis, Hypochromia, ...	OMIM:616959
Aceruloplasminemia	Blepharospasm, Decreased circulating iron concentration, Ataxia, Increased circulating ferritin c...	ORPHA:48818
Congenital Disorder Of Glycosylation, Type Ib	Hepatic fibrosis, Proximal tubulopathy, Renal cyst, Cirrhosis, Hyperinsulinemic hypoglycemia, Hep...	OMIM:602579
Congenital Isolated Acth Deficiency	Hypotension, Hypoglycemic seizures, Adrenocorticotropin deficient adrenal insufficiency, Hepatiti...	ORPHA:199296
Gracile Syndrome	Increased circulating iron concentration, Increased serum pyruvate, Increased circulating ferriti...	OMIM:603358
Mandibuloacral Dysplasia	Insulin resistance, Increased circulating free fatty acid level, Alopecia, Insulin-resistant diab...	ORPHA:2457
Abdominal Obesity-Metabolic Syndrome 3	Hyperglycemia, Increased LDL cholesterol concentration, Type II diabetes mellitus, Hypercholester...	OMIM:615812
Pituitary Stalk Interruption Syndrome	Ectopic posterior pituitary, Hypoglycemia, Cryptorchidism, Hypothyroidism, Delayed puberty, Adren...	ORPHA:95496
Pancreatitis, Hereditary	Exocrine pancreatic insufficiency, Pancreatic calcification, Pancreatitis, Diabetes mellitus, Pan...	OMIM:167800
Bone Marrow Failure Syndrome 3	Aplastic anemia, Increased mean corpuscular volume, Persistence of hemoglobin F, Pancytopenia, Ap...	OMIM:617052
Hypercholesterolemia, Familial, 2	Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia	OMIM:144010
Hemochromatosis, Type 1	Impotence, Cardiomyopathy, Congestive heart failure, Azoospermia, Glucose intolerance, Splenomega...	OMIM:235200
Polyendocrine-Polyneuropathy Syndrome	Type I diabetes mellitus, Central hypothyroidism, Hypoglycemia, Decreased testicular size, Hypogo...	OMIM:616113
9Q31.1Q31.3 Microdeletion Syndrome	Type II diabetes mellitus, Hypercholesterolemia, Thick hair, Highly arched eyebrow	ORPHA:401923
Body Mass Index Quantitative Trait Locus 19	Insulin resistance, Hyperinsulinemia, Increased serum leptin	OMIM:617885
Acth-Independent Macronodular Adrenal Hyperplasia 2	Increased circulating cortisol level, Increased urinary cortisol level, Decreased circulating ACT...	OMIM:615954
Cholesteryl Ester Storage Disease	Increased LDL cholesterol concentration, Hepatosplenomegaly, Hypersplenism, Hypertriglyceridemia,...	OMIM:278000
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8	Increased mean corpuscular volume, Splenomegaly, Thrombocytopenia, Premature graying of hair	OMIM:620367
Hemochromatosis, Type 2B	Increased circulating iron concentration, Increased circulating ferritin concentration, Splenomeg...	OMIM:613313
Acth Deficiency, Isolated	Cholestasis, Decreased circulating cortisol level, Adrenocorticotropic hormone deficiency, Adrena...	OMIM:201400
Temple Syndrome	Hypercholesterolemia, Maturity-onset diabetes of the young, Hypertriglyceridemia	OMIM:616222
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Increased LDL cholesterol concentration, Hyperbilirubinemia, Hyperthreoninemia, Hepatosplenomegal...	ORPHA:247598
Lipodystrophy, Familial Partial, Type 2	Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Type II diabetes mellitus, ...	OMIM:151660
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency	Precocious puberty, Hypoglycemia, Abnormal circulating aldosterone, Increased circulating ACTH le...	OMIM:614736
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Recurrent hypoglycemia, Splenomegaly, Elevated circulating creatine kinase concentration, Ketotic...	ORPHA:79240
Tenorio Syndrome	Hypoinsulinemia, Syncope, Raynaud phenomenon, Hypoglycemia	OMIM:616260
Citrullinemia, Type Ii, Neonatal-Onset	Hypermethioninemia, Decreased HDL cholesterol concentration, Hyperbilirubinemia, Hyperthreoninemi...	OMIM:605814
Short Stature, Dauber-Argente Type	Fasting hyperinsulinemia	OMIM:619489
Adrenocortical Carcinoma	Increased circulating cortisol level, Abnormality of reproductive system physiology, Increased ur...	ORPHA:1501
Pancreatic Agenesis 2	Exocrine pancreatic insufficiency, Diabetes mellitus, Pancreatic hypoplasia, Pancreatic aplasia	OMIM:615935
Hyperaldosteronism, Familial, Type I	Hyperaldosteronism, Adrenal hyperplasia, Decreased circulating renin level, Adrenogenital syndrom...	OMIM:103900
Glucocorticoid Deficiency 3	Recurrent hypoglycemia, Increased circulating ACTH level, Abnormal circulating renin, Decreased c...	OMIM:609197
Hemochromatosis, Type 3	Increased circulating iron concentration, Increased circulating ferritin concentration, Lymphopen...	OMIM:604250
Majeed Syndrome	Microcytic anemia, Hepatosplenomegaly, Erythroid hyperplasia, Anemia of inadequate production, De...	OMIM:609628
Citrullinemia Type Ii	Hypoalbuminemia, Decreased HDL cholesterol concentration, Hyperlipidemia, Tremor, Acute hyperammo...	ORPHA:247585
Hereditary Chronic Pancreatitis	Pancreatic calcification, Jaundice, Recurrent pancreatitis, Diabetes mellitus	ORPHA:676
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Fasting hyperinsulinemia, Dicarboxylic aciduria, Hypoketotic hypoglycemia, Hepatic necrosis, Hepa...	ORPHA:71212
16Q24.3 Microdeletion Syndrome	Highly arched eyebrow, Abnormal hair pattern, Increased mean corpuscular volume, Thrombocytopenia	ORPHA:261250
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Hypoglycemia, Splenomegaly, Elevated circulating creatine kinase concentration, Abnormal erythroc...	ORPHA:264580
Dominant Beta-Thalassemia	Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Decreased mean c...	ORPHA:231226
Lipodystrophy, Congenital Generalized, Type 1	Hyperinsulinemia, Hepatic steatosis, Splenomegaly, Polycystic ovaries, Nephrolithiasis, Cirrhosis...	OMIM:608594
Pancreatic Agenesis 1	Exocrine pancreatic insufficiency, Neonatal insulin-dependent diabetes mellitus, Pancreatic hypop...	OMIM:260370
Hypermanganesemia With Dystonia 1	Polycythemia, Increased total iron binding capacity, Tremor, Hypermanganesemia, Steppage gait, Un...	OMIM:613280
Seckel Syndrome 10	Insulin resistance, Acute pancreatitis, Elevated circulating luteinizing hormone level, Glycosuri...	OMIM:617253
Generalized Glucocorticoid Resistance Syndrome	Precocious puberty, Abnormal circulating testosterone concentration, Increased circulating cortis...	ORPHA:786
Gaisböck Syndrome	Increased red blood cell count, Increased mean corpuscular hemoglobin concentration, Increased he...	ORPHA:90041
Combined Oxidative Phosphorylation Deficiency 41	Anemia, Decreased circulating cortisol level, Hypoglycemia, Elevated circulating creatine kinase ...	OMIM:618838
Diamond-Blackfan Anemia 7	Macrocytic anemia, Increased mean corpuscular volume, Neutropenia	OMIM:612562
Rabson-Mendenhall Syndrome	Precocious puberty, Postprandial hyperglycemia, Insulin resistance, Nephrocalcinosis, Long penis,...	ORPHA:769
Beta-Thalassemia Major	Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Decreased mean c...	ORPHA:231214
Glycogen Storage Disease Ixb	Hepatomegaly, Splenomegaly, Hypoglycemia, Increased hepatic glycogen content	OMIM:261750
Smith-Magenis Syndrome	Synophrys, Hypercholesterolemia, Hypertriglyceridemia	OMIM:182290
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency	Hypoglycemia, Hyperlipidemia, Hyperuricemia	ORPHA:364
Idiopathic Steroid-Resistant Nephrotic Syndrome	Hypoalbuminemia, Hypercholesterolemia, Abnormal circulating lipid concentration, Hypertriglycerid...	ORPHA:567548
Low Phospholipid-Associated Cholelithiasis	Intrahepatic cholestasis, Cholelithiasis, Biliary cirrhosis, Cholecystitis, Sclerosing cholangiti...	ORPHA:69663
Diamond-Blackfan Anemia	Macrocytic dyserythropoietic anemia, Increased mean corpuscular volume, Persistence of hemoglobin...	ORPHA:124
Pyruvate Carboxylase Deficiency	Increased serum pyruvate, Hyperalaninemia, Athetosis, Hypoglycemia	OMIM:266150
Sheehan Syndrome	Central adrenal insufficiency, Decreased serum estradiol, Breast hypoplasia, Palpitations, Decrea...	ORPHA:91355
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14	Hypercholesterolemia, Maturity-onset diabetes of the young	ORPHA:96184
Congenital Analbuminemia	Hypoalbuminemia, Hyperlipidemia, Hypercholesterolemia, Hypoproteinemia, Increased alpha-globulin	ORPHA:86816
Lipodystrophy, Congenital Generalized, Type 2	Hyperinsulinemia, Type II diabetes mellitus, Hepatic steatosis, Splenomegaly, Polycystic ovaries,...	OMIM:269700
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Elevated circulating luteinizing hormone level, Absence of pubertal development, Decreased fertil...	ORPHA:90793
Hyperlipoproteinemia, Type I	Lactescent serum, Increased circulating chylomicron concentration, Hepatosplenomegaly, Hyperlipid...	OMIM:238600
Nephrotic Syndrome, Type 11	Hypoalbuminemia, Hypercholesterolemia	OMIM:616730
Elliptocytosis 3	Decreased mean corpuscular volume, Pyropoikilocytosis, Chronic hemolytic anemia, Elliptocytosis	OMIM:617948
Beta-Thalassemia	Microcytic anemia, Abnormal hemoglobin, Splenomegaly, Thrombocytopenia, Anemia, Abnormality of ir...	ORPHA:848
Dysbetalipoproteinemia	Xanthelasma, Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia,...	ORPHA:412
Immunodeficiency 96	Increased proportion of gamma-delta T cells, Increased mean corpuscular volume	OMIM:619774
Mitchell-Riley Syndrome	Annular pancreas, Pancreatic hypoplasia, Cholestasis, Hyperglycemia, Absent gallbladder, Biliary ...	OMIM:615710
Retinitis Pigmentosa	Hypogonadism, Hyperinsulinemia, Type II diabetes mellitus, Abnormal testis morphology	ORPHA:791
Carnitine-Acylcarnitine Translocase Deficiency	Hypotension, Atrioventricular block, Hypoglycemia, Cardiomyopathy, Hepatic steatosis, Premature v...	OMIM:212138
Immunodeficiency 103, Susceptibility To Fungal Infections	Decreased circulating iron concentration, Hypereosinophilia, Abnormal B cell count, Abnormal prop...	OMIM:212050
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Abnormality of exocrine pancreas physiology, Hepatic steatosis, Aplasia/Hypoplasia of the pancrea...	ORPHA:93111
Late-Onset Isolated Acth Deficiency	Type I diabetes mellitus, Hypotension, Pituitary adenoma, Graves disease, Hepatitis, Hypoglycemia...	ORPHA:199299
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency	Premature adrenarche, Elevated circulating 17-hydroxyprogesterone concentration, Hypotension, Con...	ORPHA:90791
Combined Oxidative Phosphorylation Deficiency 40	Hypoglycemia, Neonatal death, Elevated circulating creatine kinase concentration, Decreased circu...	OMIM:618835
Combined Oxidative Phosphorylation Deficiency 42	Hypoglycemia, Neonatal death, Elevated circulating creatine kinase concentration, Decreased circu...	OMIM:618839
Duodenal Atresia	Annular pancreas, Abnormality of the pancreas	ORPHA:1203
Glycogen Storage Disease Ixc	Hypoglycemia, Splenomegaly, Increased hepatic glycogen content, Cirrhosis, Fasting hypoglycemia, ...	OMIM:613027
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Irregular menstruation, Pituitary adenoma, Increased circulating cortisol level, Neuroendocrine n...	ORPHA:189427
Lipodystrophy, Congenital Generalized, Type 4	Insulin resistance, Hyperinsulinemia, Splenomegaly, Hepatic steatosis, Hepatomegaly	OMIM:613327
Pituitary Apoplexy	Hypotension, Pituitary adenoma, Increased circulating cortisol level, Increased circulating prola...	ORPHA:95613
Glucocorticoid Deficiency 2	Hypoglycemia, Recurrent hypoglycemia, Bilateral cryptorchidism, Increased circulating ACTH level,...	OMIM:607398
Smith-Magenis Syndrome	Synophrys, Gait disturbance, Hypercholesterolemia, Hypertriglyceridemia	ORPHA:819
Acquired Aneurysmal Subarachnoid Hemorrhage	Hyperglycemia, Hypercholesterolemia, Leukocytosis	ORPHA:90065
Maple Syrup Urine Disease, Type Ia	Pancreatitis, Hypoglycemia	OMIM:248600
Ornithine Transcarbamylase Deficiency	Splenomegaly, Hyperammonemia, Hypoglycemia	ORPHA:664
Cholestasis, Progressive Familial Intrahepatic, 8	Hypercholesterolemia, Elevated circulating alpha-fetoprotein concentration, Conjugated hyperbilir...	OMIM:619662
Alstrom Syndrome	Nephritis, Insulin-resistant diabetes mellitus, Decreased response to growth hormone stimulation ...	OMIM:203800
Renal Cysts And Diabetes Syndrome	Hypospadias, Unilateral renal agenesis, Renal hypoplasia, Pancreatic hypoplasia, Glycosuria, Matu...	OMIM:137920
Non-Acquired Panhypopituitarism	Ectopic posterior pituitary, Hypotension, Ectopic anterior pituitary gland, Hypoglycemia, Decreas...	ORPHA:90695
Mandibuloacral Dysplasia With Type A Lipodystrophy	Alopecia, Sparse scalp hair, Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia...	OMIM:248370
Carnitine Palmitoyl Transferase 1A Deficiency	Hypoglycemia, Hypertrophic cardiomyopathy, Arrhythmia, Hepatomegaly, Sudden cardiac death	ORPHA:156
Congenital Disorder Of Glycosylation, Type Iiaa	Hypercholesterolemia, Hyperammonemia, Hypoglycemia	OMIM:620454
Annular Pancreas	Annular pancreas	ORPHA:675
Pancreas, Annular	Annular pancreas	OMIM:167750
Woodhouse-Sakati Syndrome	Decreased serum estradiol, Insulin-resistant diabetes mellitus, Decreased response to growth horm...	ORPHA:3464
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Hepatosplenomegaly, Leukocytosis, Reticulocytosis, Anisocytosis, Poikilocytosis, Elliptocytosis, ...	OMIM:618278
Mandibuloacral Dysplasia With Type B Lipodystrophy	Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Glucose intolerance, Stage ...	OMIM:608612
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency	Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia	ORPHA:209902
Bile Acid Synthesis Defect, Congenital, 5	Increased total iron binding capacity, Hyperbilirubinemia, Splenomegaly, Increased serum bile aci...	OMIM:616278
Isolated Permanent Neonatal Diabetes Mellitus	Neonatal insulin-dependent diabetes mellitus, Glycosuria, Pancreatic hypoplasia, Hyperglycemia, R...	ORPHA:99885
Diamond-Blackfan Anemia 1	Increased mean corpuscular volume, Persistence of hemoglobin F, Elevated red cell adenosine deami...	OMIM:105650
Lysinuric Protein Intolerance	Intraalveolar phospholipid accumulation, Hemophagocytosis, Increased circulating ferritin concent...	ORPHA:470
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic	Increased hepatic echogenicity, Hypoglycemia, Hepatic steatosis, Fasting hypoglycemia, Hepatomega...	OMIM:261680
Atypical Werner Syndrome	Neoplasm of the skin, Insulin-resistant diabetes mellitus, Neoplasm of the oral cavity, Hyperglyc...	ORPHA:79474
Corticosterone Methyloxidase Type Ii Deficiency	Increased circulating 18-hydroxycortisone level, Hyponatremia, Increased circulating corticostero...	OMIM:610600
Leprechaunism	Postprandial hyperglycemia, Insulin resistance, Nephrocalcinosis, Long penis, Central hypothyroid...	ORPHA:508
Neuhauser Syndrome	Hypercholesterolemia, Low anterior hairline, Ataxia	OMIM:249310
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal	Hypercholesterolemia, Nail dystrophy, Hypertriglyceridemia	OMIM:610644
Igg4-Related Thyroid Disease	Graves disease, Euthyroid goiter, Goiter, Sialadenitis, Sclerosing cholangitis, Hashimoto thyroid...	ORPHA:64744
Hypokalemic Tubulopathy And Deafness	Hyperaldosteronism, Ataxia, Increased circulating renin level	OMIM:619406
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy	Hypokalemia, Abnormal magnesium concentration, Increased serum prostaglandin E2, Increased circul...	OMIM:241150
Prader-Willi Syndrome	Precocious puberty, Decreased response to growth hormone stimulation test, Hyperinsulinemia, Adre...	OMIM:176270
Infantile Liver Failure Syndrome 2	Jaundice, Cardiomyopathy, Hypoglycemia	OMIM:616483
Megalocornea-Intellectual Disability Syndrome	Hypercholesterolemia, Ataxia	ORPHA:2479
Glycogen Storage Disease Ib	Hypoglycemia, Splenomegaly, Pancreatitis, Delayed puberty, Pancreatic fibrosis, Hepatomegaly, Hyp...	OMIM:232220
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive	Hyponatremia, Hyperkalemia, Increased circulating renin level	OMIM:620126
Galloway-Mowat Syndrome 7	Hypercholesterolemia	OMIM:618348
Glycogen Storage Disease Ia	Hypoglycemia, Pancreatitis, Delayed puberty, Fasting hypoglycemia, Hepatomegaly, Hypertension, He...	OMIM:232200
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function	Ectopic posterior pituitary, Hypoglycemia, Hypopituitarism, Decreased circulating T4 concentratio...	ORPHA:226307
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive	Hyponatremia, Hyperkalemia, Increased circulating renin level	OMIM:620125
Martinez-Frias Syndrome	Annular pancreas, Pancreatic hypoplasia, Extrahepatic biliary duct atresia, Hypoplasia of the gal...	OMIM:601346
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Abnormal blood inorganic cation concentration, Polycythemia, Increased total iron binding capacit...	ORPHA:309854
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus	Hepatomegaly, Type I diabetes mellitus, Reduced pancreatic beta cells, Insulin-resistant diabetes...	OMIM:226980
Steinert Myotonic Dystrophy	Insulin resistance, Neoplasm of the skin, Cholelithiasis, Male hypogonadism, Decreased response t...	ORPHA:273
Addison Disease	Thymoma, Type I diabetes mellitus, Hypotension, Androgen insufficiency, Hypoglycemia, Adrenal cal...	ORPHA:85138
Lysosomal Acid Lipase Deficiency	Xanthelasma, Hepatosplenomegaly, Hypersplenism, Bone-marrow foam cells, Hyponatremia, Anemia, Hyp...	ORPHA:275761
Immunodeficiency 47	Accessory spleen, Normocytic anemia, Leukopenia, Splenomegaly, Hypercholesterolemia, Thrombocytop...	OMIM:300972
Dopamine Beta-Hydroxylase Deficiency	Insulin resistance, Elevated urinary dopamine level, Hypoglycemia, Hyperinsulinemia, Nocturia	ORPHA:230
Pancreatic And Cerebellar Agenesis	Pancreatic hypoplasia, Hypoglycemia, Hyperglycemia, Diabetes mellitus, Pancreatic aplasia	OMIM:609069
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Hypoglycemia, Xanthelasma, Hyperlipidemia, Hyperuricemia, Anemia, Hypercholesterolemia, Hypertrig...	ORPHA:79259
Hyperferritinemia With Or Without Cataract	Abnormal transferrin saturation, Decreased transferrin saturation, Abnormal circulating iron conc...	OMIM:600886
Orthostatic Hypotension 2	Orthostatic hypotension, Hypoglycemia	OMIM:618182
Castleman Disease	Elevated circulating C-reactive protein concentration, Anemia, Decreased mean corpuscular volume,...	ORPHA:160
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency	Hypoglycemia, Abnormal circulating androgen level, Increased circulating ACTH level, Adrenal hype...	ORPHA:90790
Lmna-Related Cardiocutaneous Progeria Syndrome	Alopecia universalis, Premature graying of hair, Absent eyelashes, Hypercholesterolemia, Absent e...	ORPHA:363618
Eisenmenger Syndrome	Abnormal circulating B-type natriuretic peptide concentration, Increased mean corpuscular volume,...	ORPHA:97214
Lipodystrophy, Familial Partial, Type 7	Insulin resistance, Type I diabetes mellitus, Sparse scalp hair, Glucose intolerance, Gait ataxia...	OMIM:606721
Combined Pituitary Hormone Deficiencies, Genetic Forms	Ectopic posterior pituitary, Anterior pituitary agenesis, Hypotension, Ectopic anterior pituitary...	ORPHA:95494
Gracile Syndrome	Decreased transferrin saturation, Elevated hepatic iron concentration, Increased circulating ferr...	ORPHA:53693
Porphyria Cutanea Tarda	Increased circulating iron concentration, Increased circulating ferritin concentration, Hypertric...	ORPHA:101330
Primary Biliary Cholangitis	Hypoalbuminemia, Abnormal circulating lipid concentration, Xanthelasma, Splenomegaly, Hypercholes...	ORPHA:186
Isolated Thyroid-Stimulating Hormone Deficiency	Abnormal circulating thyroglobulin concentration, Neonatal hyperbilirubinemia, Hypercholesterolemia	ORPHA:90674
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Hepatomegaly, Diabetes mellitus, Glycosuria, Hypoglycemia	OMIM:616026
Glycogen Storage Disease Ic	Spider hemangioma, Hypoglycemia, Chronic pancreatitis, Hepatoblastoma, Pulmonary arterial hyperte...	OMIM:232240
Renal-Hepatic-Pancreatic Dysplasia 1	Malformation of the hepatic ductal plate, Hepatic fibrosis, Aortic valve stenosis, Biliary cirrho...	OMIM:208540
Tyrosinemia, Type I	Gastrointestinal hemorrhage, Hypoglycemia, Hypertrophic cardiomyopathy, Splenomegaly, Pancreatic ...	OMIM:276700
Turner Syndrome Due To Structural X Chromosome Anomalies	Cholestatic liver disease, Hepatic fibrosis, Biliary cirrhosis, Abnormality of the ovary, Horsesh...	ORPHA:99413
Turner Syndrome	Cholestatic liver disease, Hepatic fibrosis, Biliary cirrhosis, Abnormality of the ovary, Horsesh...	ORPHA:881
Mosaic Monosomy X	Cholestatic liver disease, Hepatic fibrosis, Biliary cirrhosis, Abnormality of the ovary, Horsesh...	ORPHA:99228
Monosomy X	Cholestatic liver disease, Hepatic fibrosis, Biliary cirrhosis, Abnormality of the ovary, Horsesh...	ORPHA:99226
Perlman Syndrome	Cryptorchidism, Pancreatic islet-cell hyperplasia, Hypoglycemia	OMIM:267000
Symptomatic Form Of Hfe-Related Hemochromatosis	Increased circulating ferritin concentration, Hyperglycemia, Splenomegaly, Abnormality of iron ho...	ORPHA:465508
Liver Disease, Severe Congenital	Portal inflammation, Hepatic steatosis, Abnormal hepatic echogenicity, Hepatomegaly, Jaundice, Hy...	OMIM:619991
Igg4-Related Submandibular Gland Disease	Enlarged lacrimal glands, Xerostomia, Abnormal pancreas morphology, Abnormality of the submandibu...	ORPHA:449432
Atelis Syndrome 2	Hyperinsulinemia, Elevated circulating thyroid-stimulating hormone concentration	OMIM:620185
Trichohepatoenteric Syndrome 1	Hypoalbuminemia, Hypermethioninemia, Increased circulating iron concentration, Fine hair, Trichor...	OMIM:222470
Oculocerebrorenal Syndrome Of Lowe	Fine hair, Hyperaldosteronism, Hyponatremia, Hypokalemia, Hypophosphatemia, Hypercholesterolemia,...	ORPHA:534
Bardet-Biedl Syndrome 20	Hypercholesterolemia	OMIM:619471
Alström Syndrome	Chronic kidney disease, Testicular fibrosis, Decreased circulating T4 concentration, Hepatospleno...	ORPHA:64
Paroxysmal Nocturnal Hemoglobinuria	Decreased circulating iron concentration, Glycosuria, Pancytopenia, Leukopenia, Erythroid hyperpl...	ORPHA:447
Syndromic Diarrhea	Trichorrhexis nodosa, Lymphopenia, Brittle hair, Splenomegaly, Hypoplasia of the thymus, Uncombab...	ORPHA:84064
Lowe Oculocerebrorenal Syndrome	Elevated amniotic fluid alpha-fetoprotein, Elevated circulating creatine kinase concentration, Hy...	OMIM:309000
Simpson-Golabi-Behmel Syndrome	Polysplenia, Hypoglycemia, Supernumerary nipple, Bundle branch block, Cardiomyopathy, Splenomegal...	ORPHA:373
Alagille Syndrome 1	Hypercholesterolemia, Hypertriglyceridemia	OMIM:118450
Beckwith-Wiedemann Syndrome	Abnormal pancreas morphology, Hypoglycemia, Exocrine pancreatic insufficiency, Hypertrophic cardi...	ORPHA:116
Leukocyte Adhesion Deficiency	Peritonitis, Acute myeloid leukemia, Glomerulonephritis, Hyperinsulinemic hypoglycemia, Hemolytic...	ORPHA:2968
Biliary, Renal, Neurologic, And Skeletal Syndrome	Hypoalbuminemia, Increased circulating ferritin concentration, Elevated circulating creatinine co...	OMIM:619534
Pmm2-Cdg	Insulin resistance, Hepatic fibrosis, Elevated circulating thyroid-stimulating hormone concentrat...	ORPHA:79318
Homozygous Familial Hypercholesterolemia	Hyperlipidemia, Increased LDL cholesterol concentration, Hypercholesterolemia	ORPHA:391665

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 Pcsk2

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 Pcsk2.

No publications found that use IMPC mice or data for Pcsk2.

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
Pcsk2^em1(IMPC)H	Exon Deletion	Mice
Pcsk2^{tm28831(L1L2_gt0)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
Pcsk2^em2(IMPC)H	Exon Deletion	Mice

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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