Gene Summary

Name:
proprotein convertase subtilisin/kexin type 2
Synonyms:
SPC2,  Nec-2,  6330411F23Rik,  prohormone convertase 2,  Nec2,  PC2,  Phpp-2

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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 System Allele Zyg Sex Life Stage P Value
increased circulating alanine transaminase level Pcsk2em1(IMPC)H HET Early adult 3.58×10-12
increased circulating HDL cholesterol level Pcsk2em1(IMPC)H HOM Early adult 1.38×10-06
abnormal coat/ hair morphology Pcsk2em1(IMPC)H HOM Early adult 4.29×10-05
limb grasping Pcsk2em1(IMPC)H HOM Early adult 5.69×10-07
increased circulating iron level Pcsk2em1(IMPC)H HOM Early adult 0.00
preweaning lethality, incomplete penetrance Pcsk2em1(IMPC)H HOM   Early adult 0.00
increased circulating cholesterol level Pcsk2em1(IMPC)H HOM Early adult 4.16×10-09
increased circulating amylase level Pcsk2em1(IMPC)H HOM Early adult 4.56×10-07
increased mean corpuscular volume Pcsk2em1(IMPC)H HOM Early adult 2.03×10-06
abnormal locomotor behavior Pcsk2em1(IMPC)H HOM   Early adult 4.19×10-06
decreased circulating glucose level Pcsk2em1(IMPC)H HOM Early adult 7.67×10-08

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Viewing: all phenotypes

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

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.

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 Similarity of
phenotypes
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
Pcsk2em1(IMPC)H Exon Deletion Mice
Pcsk2tm28831(L1L2_gt0) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Pcsk2em2(IMPC)H Exon Deletion Mice

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