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Gene: Pcsk2 MGI:97512

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Gene Summary

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

Order Alleles

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 System Allele Zyg Sex Life Stage P Value
increased circulating alanine transaminase level Pcsk2em1(IMPC)H HET Early adult 4.11×10-12
decreased circulating glucose level Pcsk2em1(IMPC)H HOM Early adult 8.35×10-08
increased circulating iron level Pcsk2em1(IMPC)H HOM Early adult 0.00
increased circulating cholesterol level Pcsk2em1(IMPC)H HOM Early adult 4.53×10-09
preweaning lethality, incomplete penetrance Pcsk2em1(IMPC)H HOM   Early adult 0.00
increased circulating amylase level Pcsk2em1(IMPC)H HOM Early adult 4.56×10-07
abnormal locomotor behavior Pcsk2em1(IMPC)H HOM   Early adult 4.19×10-06
limb grasping Pcsk2em1(IMPC)H HOM Early adult 5.69×10-07
increased mean corpuscular volume Pcsk2em1(IMPC)H HOM Early adult 1.78×10-06
abnormal coat/ hair morphology Pcsk2em1(IMPC)H HOM Early adult 4.29×10-05
increased circulating HDL cholesterol level Pcsk2em1(IMPC)H HOM Early adult 1.51×10-06

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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.

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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.

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
Cramps, Familial Adolescent
Elevated circulating creatine kinase concentration OMIM:218050
Plasma Fibronectin Deficiency
Reduced circulating fibronectin level OMIM:614101
Hyperinsulinemic Hypoglycemia, Familial, 2
Hyperinsulinemic hypoglycemia, Nesidioblastosis, Pancreatic islet-cell hyperplasia, Hypoglycemia OMIM:601820
Pentosuria
Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level ORPHA:2843
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemia, Hyperinsulinemia, Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperin... OMIM:610021
Pancreatic Cancer, Susceptibility To, 5
Melanoma, Pancreatic adenocarcinoma OMIM:618680
Insulinomatosis And Diabetes Mellitus
Impaired glucose tolerance, Insulinoma, Multiple pancreatic beta-cell adenomas, Type II diabetes ... OMIM:147630
Hyperinsulinemic Hypoglycemia, Familial, 1
Pancreatic islet-cell hyperplasia, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:256450
Gcgr-Related Hyperglucagonemia
Neoplasm of the pancreas, Diabetes mellitus, Increased glucagon level, Cholelithiasis, Abnormal b... ORPHA:438274
Melanoma-Pancreatic Cancer Syndrome
Pancreatic adenocarcinoma, Oropharyngeal squamous cell carcinoma, Squamous cell carcinoma, Melano... OMIM:606719
Mahvash Disease
Recurrent pancreatitis, Type II diabetes mellitus, Pancreatic alpha-cell hyperplasia, Increased g... OMIM:619290
Pancreatic Cancer
Neoplasm of the pancreas, Increased level of L-fucose in urine OMIM:260350
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Sideroblastic anemia, Increased circulating ferritin concentration, Elevated transferrin saturati... OMIM:205950
Hereditary Breast And/Or Ovarian Cancer Syndrome
Neoplasm of the pancreas, Breast carcinoma, Ovarian neoplasm, Melanoma, Prostate cancer ORPHA:145
Li-Fraumeni Syndrome
Neoplasm of the pancreas, Adrenocortical carcinoma, Soft tissue sarcoma, Breast carcinoma, Acute ... OMIM:151623
Serrated Polyposis Syndrome
Pancreatic adenocarcinoma, Biliary tract neoplasm, Schwannoma, Bladder carcinoma, Breast carcinom... ORPHA:157798
Hyperparathyroidism 2 With Jaw Tumors
Hyperparathyroidism, Pancreatic adenocarcinoma, Hurthle cell thyroid adenoma, Nephrolithiasis, Pa... OMIM:145001
Tropical Calcific Pancreatitis
Neoplasm of the pancreas, Insulin-dependent but ketosis-resistant diabetes, Pancreatic calcificat... OMIM:608189
Hyperinsulinemic Hypoglycemia, Familial, 6
Abnormality of the pancreatic islet cells, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:606762
Pancreatic Cancer, Susceptibility To, 1
Pancreatic adenocarcinoma OMIM:606856
Pancreatic Cancer, Susceptibility To, 2
Neoplasm of the pancreas OMIM:613347
Familial Melanoma
Neoplasm of the pancreas, Melanoma, Neoplasm of the breast ORPHA:618
Nut Midline Carcinoma
Oropharyngeal squamous cell carcinoma, Pancreatoblastoma, Squamous cell carcinoma, Neoplasm, Panc... ORPHA:443167
Isolated Asymptomatic Elevation Of Creatine Phosphokinase
Elevated creatine kinase after exercise, Elevated circulating creatine kinase concentration ORPHA:206599
Tropical Pancreatitis
Pancreatic adenocarcinoma, Maternal diabetes, Jaundice, Insulin-dependent but ketosis-resistant d... ORPHA:103918
Li-Fraumeni Syndrome
Astrocytoma, Neoplasm of the central nervous system, Neoplasm, Thyroid carcinoma, Prostate cancer... ORPHA:524
Insulinoma Tumor Suppressor Gene Locus
Insulinoma OMIM:606960
Glycogen Storage Disease Vi
Hypercholesterolemia, Hyperlipidemia, Hypertriglyceridemia, Hypoglycemia OMIM:232700
Hypertriglyceridemia 2
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:619324
Diabetes Mellitus, Ketosis-Prone
Beta-cell dysfunction, Insulin resistance, Diabetes mellitus OMIM:612227
Familial Partial Lipodystrophy, Köbberling Type
Hepatomegaly, Diabetes mellitus, Insulin resistance, Hyperinsulinemia, Polycystic ovaries, Hepati... ORPHA:79084
Intrinsic Factor Deficiency
Increased RBC distribution width, Megaloblastic anemia, Increased mean corpuscular volume, Megalo... OMIM:261000
Hemoglobin D Disease
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... ORPHA:90039
Lynch Syndrome 5
Neoplasm of the pancreas, Endometrial carcinoma, Ovarian neoplasm OMIM:614350
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Reactive hypoglycemia, Hyperinsulinemia, Hyperhidrosis, Pancreatic islet-cell hyperplasia, Fastin... ORPHA:276608
Familial Adenomatous Polyposis 3
Endometrial carcinoma, Pancreatic adenocarcinoma, Breast carcinoma, Bladder neoplasm, Basal cell ... OMIM:616415
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hepatomegaly, Maternal diabetes, Episodic hyperhidrosis, Hyperinsulinemia, Hypoglycemic seizures,... ORPHA:276580
Coronary Artery Disease, Autosomal Dominant, 1
Hypercholesterolemia, Diabetes mellitus OMIM:608320
Hyperinsulinemic Hypoglycemia, Familial, 5
Elevated circulating insulin:C-peptide ratio, Fasting hyperinsulinemia, Hypoglycemic seizures, Hy... OMIM:609968
Sitosterolemia 2
Elevated circulating sitosterol concentration, Hypercholesterolemia OMIM:618666
Desmoplastic Small Round Cell Tumor
Abnormal peritoneum morphology, Hepatomegaly, Neoplasm of the pancreas, Testicular neoplasm, Ovar... ORPHA:83469
Vacuolar Myopathy With Sarcoplasmic Reticulum Protein Aggregates
Elevated circulating creatine kinase concentration ORPHA:88635
Infantile Myofibromatosis
Benign neoplasm of the central nervous system, Neoplasm of the pancreas, Gingival fibromatosis, N... ORPHA:2591
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hepatomegaly, Tachycardia, Episodic hyperhidrosis, Hyperinsulinemia, Hypoglycemic seizures, Synco... ORPHA:276575
Thyroid Hormone Metabolism, Abnormal, 2
Hypercholesterolemia OMIM:619855
Anemia, Hypochromic Microcytic, With Iron Overload 1
Decreased mean corpuscular volume, Increased serum iron, Elevated hepatic iron concentration, Ery... OMIM:206100
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Neonatal hypoglycemia, Hypoglycemia, Hypoinsulinemia, Fasting hypoglycemia OMIM:240900
Von Hippel-Lindau Syndrome
Neoplasm of the pancreas, Pancreatic cysts, Pulmonary capillary hemangiomatosis, Spinal hemangiob... OMIM:193300
Multiple Endocrine Neoplasia Type 4
Hyperparathyroidism, Angiofibromas, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemi... ORPHA:276152
Nthl1-Related Attenuated Familial Adenomatous Polyposis
Endometrial carcinoma, Pancreatic adenocarcinoma, Seborrheic keratosis, Breast carcinoma, Squamou... ORPHA:454840
Hyperinsulinemic Hypoglycemia, Familial, 3
Diabetes mellitus, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:602485
Mody
Transient neonatal diabetes mellitus, Insulin-resistant diabetes mellitus, Abnormal circulating i... ORPHA:552
Cholesterol-Ester Transfer Protein Deficiency
Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemia, Hypotriglyceridemi... ORPHA:79506
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Ketonuria, Elevated circulating growth hormone concentration, Neonatal hypoglycemia, Multiple pan... ORPHA:79644
Transient Neonatal Diabetes Mellitus
Maternal diabetes, Maturity-onset diabetes of the young, Transient neonatal diabetes mellitus, Di... ORPHA:99886
Dehydrated Hereditary Stomatocytosis 2
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Increased mean corpuscular hemog... OMIM:616689
Apc-Related Attenuated Familial Adenomatous Polyposis
Neoplasm of the pancreas, Astrocytoma, Adrenocortical carcinoma, Pilomatrixoma, Medulloblastoma, ... ORPHA:247806
Morbid Obesity And Spermatogenic Failure
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Insulin resistance, Increased LDL ... OMIM:615703
Polyendocrine-Polyneuropathy Syndrome
Decreased testicular size, Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Hypoglyc... ORPHA:453533
Dehydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Neonatal hyperbilirubinemia, Anemia of inad... ORPHA:3202
Hyperinsulinemic Hypoglycemia, Familial, 8
Hypoglycemia, Hyperinsulinemia, Hyperammonemia, Hypoglycemic seizures, Hypercholesterolemia, Incr... OMIM:620211
Congenital Dyserythropoietic Anemia Type Iii
Anisocytosis, Abnormal erythrocyte morphology, Increased mean corpuscular volume, Increased serum... ORPHA:98870
Familial Pancreatic Carcinoma
Pancreatic adenocarcinoma, Diabetes mellitus, Jaundice, Breast carcinoma, Hepatosplenomegaly, Ext... ORPHA:1333
Sickle Cell Anemia
Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the spleen, Leukocytosis, El... ORPHA:232
Congenital Glucokinase-Related Hyperinsulinism
Fasting hyperinsulinemia, Recurrent hypoglycemia, Type II diabetes mellitus, Hyperinsulinemic hyp... ORPHA:79299
Hyperinsulinism Due To Hnf1A Deficiency
Hepatomegaly, Ketotic hypoglycemia, Maternal diabetes, Reactive hypoglycemia, Maturity-onset diab... ORPHA:324575
Perlman Syndrome
Hepatomegaly, Hypoplasia of penis, Cryptorchidism, Abnormal pancreas morphology, Hyperinsulinemia... ORPHA:2849
Hyperinsulinism Due To Ucp2 Deficiency
Hepatomegaly, Tachycardia, Reactive hypoglycemia, Episodic hyperhidrosis, Hypoglycemic seizures, ... ORPHA:276556
Hyperlipoproteinemia, Type Ii, And Deafness
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:144300
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Anisocytosis, Conjugated hyperbilirubinemia, Splenomegaly, Increased circulating ferritin concent... OMIM:616860
Isolated Growth Hormone Deficiency, Type Ia
Prolonged neonatal jaundice, Decreased serum insulin-like growth factor 1, Reduced circulating gr... OMIM:262400
Familial Colorectal Cancer Type X
Benign neoplasm of the central nervous system, Renal neoplasm, Pancreatic adenocarcinoma, Gliobla... ORPHA:440437
Hjv Or Hamp-Related Hemochromatosis
Diabetes mellitus, Congenital hepatic fibrosis, Dilated cardiomyopathy, Abnormality of endocrine ... ORPHA:79230
Lipodystrophy, Congenital Generalized, Type 3
Hypertriglyceridemia, Diabetes mellitus, Splenomegaly, Insulin resistance, Hepatosplenomegaly, Hy... OMIM:612526
Gardner Syndrome
Neoplasm of the pancreas, Brain neoplasm, Astrocytoma, Adrenocortical carcinoma, Pilomatrixoma, M... ORPHA:79665
Punctate Palmoplantar Keratoderma Type 1
Pancreatic adenocarcinoma, Brain neoplasm, Neoplasm of the skeletal system, Esophageal neoplasm, ... ORPHA:79501
Peutz-Jeghers Syndrome
Neoplasm of the nose, Pancreatic adenocarcinoma, Biliary tract neoplasm, Enlarged polycystic ovar... ORPHA:2869
Peripheral Primitive Neuroectodermal Tumor
Neoplasm of the pancreas, Brain neoplasm, Precocious puberty, Jaundice, Spinal cord tumor, Ovaria... ORPHA:370348
Insulinoma
Nonketotic hypoglycemia, Reactive hypoglycemia, Abnormality of the pancreatic islet cells, Primar... ORPHA:97279
Lynch Syndrome
Benign neoplasm of the central nervous system, Glioblastoma multiforme, Pancreatic adenocarcinoma... ORPHA:144
Plin1-Related Familial Partial Lipodystrophy
Hyperinsulinemia, Abnormal circulating hormone concentration, Polycystic ovaries, Insulin-resista... ORPHA:280356
Hyperinsulinemic Hypoglycemia, Familial, 4
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:609975
Hyperinsulinism Due To Insr Deficiency
Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Recurrent hypoglycemia, Hyperinsuline... ORPHA:263458
Obesity Due To Prohormone Convertase I Deficiency
Decreased response to growth hormone stimulation test, Hyperinsulinemia, Gonadotropin deficiency,... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Decreased response to growth hormone stimulation test, Hyperinsulinemia, Gonadotropin deficiency,... ORPHA:71526
Bone Marrow Failure And Diabetes Mellitus Syndrome
Type I diabetes mellitus, Pancytopenia, Increased mean corpuscular volume, T-cell acute lymphobla... OMIM:620044
Progeria-Short Stature-Pigmented Nevi Syndrome
Neoplasm of the pancreas, Hypergonadotropic hypogonadism, Hypospadias, Insulin-resistant diabetes... ORPHA:2959
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypercholesterolemia, Steppage gait, Hypoalbuminemia, Ataxia ORPHA:94124
Congenital Disorder Of Glycosylation, Type Iip
Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi... OMIM:616829
Anemia, Hypochromic Microcytic, With Iron Overload 2
Splenomegaly, Increased circulating ferritin concentration, Elevated transferrin saturation, Decr... OMIM:615234
Hypercholesterolemia, Familial, 4
Hypercholesterolemia, Hypertriglyceridemia, Decreased LDL cholesterol concentration OMIM:603813
Vipoma
Neoplasm of the pancreas, Hepatomegaly, Diabetes mellitus, Follicular thyroid carcinoma, Elevated... ORPHA:97282
Von Hippel-Lindau Disease
Neoplasm of the pancreas, Elevated urinary catecholamine level, Pancreatic islet cell adenoma, Pa... ORPHA:892
Obesity And Hypopigmentation
Hyperinsulinemia, Hepatic steatosis OMIM:620195
Familial Pseudohyperkalemia
Reticulocytosis, Hyperkalemia, Stomatocytosis, Increased mean corpuscular volume, Episodic hemoly... ORPHA:90044
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Hypoglycemia, Cardiomyopathy OMIM:609016
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Elevated circulating thyroid-stimulating hormone concentration, Abnormal circulating insulin conc... ORPHA:171706
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypercholesterolemia, Steppage gait, Hypoalbuminemia, Ataxia OMIM:607250
Somatostatinoma
Neoplasm of the pancreas, Hepatomegaly, Diabetes mellitus, Elevated circulating growth hormone co... ORPHA:97283
Glycogen Storage Disease Ixa1
Hypertriglyceridemia, Hypoglycemia, Splenomegaly, Hyperuricemia, Hypercholesterolemia OMIM:306000
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Neutropenia, Thr... OMIM:619041
Ppoma
Neoplasm of the pancreas, Hepatomegaly, Elevated circulating growth hormone concentration, Abnorm... ORPHA:97278
Grfoma
Neoplasm of the thymus, Pheochromocytoma, Hepatomegaly, Intermittent jaundice, Increased circulat... ORPHA:97261
Hyperlipidemia, Familial Combined, 3
Increased VLDL cholesterol concentration, Hyperlipidemia, Elevated circulating apolipoprotein B c... OMIM:144250
Familial Adenomatous Polyposis
Brain neoplasm, Astrocytoma, Soft tissue neoplasm, Angiofibromas, Papillary thyroid carcinoma, Ad... ORPHA:733
Short Stature Due To Partial Ghr Deficiency
Decreased serum insulin-like growth factor 1, Hypoglycemia, Delayed puberty ORPHA:314802
Hyperparathyroidism-Jaw Tumor Syndrome
Pancreatic adenocarcinoma, Renal insufficiency, Renal hamartoma, Testicular neoplasm, Fibroma, Pr... ORPHA:99880
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Ataxia, Elevated circulating creatine kinase concentration, Tremor, Truncal ataxia, Limb ataxia, ... OMIM:208920
Peutz-Jeghers Syndrome
Neoplasm of the pancreas, Bile duct polyp, Biliary tract abnormality, Abnormality of the ureter, ... OMIM:175200
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia OMIM:252270
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Postural tremor, Elevated circulating creatine kinase concentration, Elevated circulating alpha-f... ORPHA:64753
Parathyroid Carcinoma
Pancreatic adenocarcinoma, Renal insufficiency, Renal hamartoma, Testicular neoplasm, Fibroma, Pr... ORPHA:143
Insulin Autoimmune Syndrome
Nonketotic hypoglycemia, Reactive hypoglycemia, Insulin-resistant diabetes mellitus, Insulin resi... ORPHA:411593
Bdv Syndrome
Decreased thyroid-stimulating hormone level, Hypogonadotropic hypogonadism, Cryptorchidism, Hyper... OMIM:619326
Cholestasis, Progressive Familial Intrahepatic, 10
Conjugated hyperbilirubinemia, Splenomegaly, Hypoalbuminemia, Increased serum bile acid concentra... OMIM:619868
Bangstad Syndrome
Abnormality of the parathyroid gland, Hyperinsulinemia, Polycystic ovaries, Increased circulating... ORPHA:1227
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Methylmalonic acidemia, Hypomethioninemia, Spastic ataxia, Megaloblastic anemia, Hyperhomocystine... OMIM:277410
Diarrhea 7, Protein-Losing Enteropathy Type
Hypercholesterolemia, Hyperlipidemia, Hypoalbuminemia OMIM:615863
Hypothyroidism, Congenital, Nongoitrous, 8
Hypercholesterolemia OMIM:301033
Pituitary Hormone Deficiency, Combined, 4
Hypothyroidism, Adrenal insufficiency, Impaired growth-hormone response to insulin stimulation te... OMIM:262700
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Reduced red cell pyruvate kinase ... ORPHA:766
Proprotein Convertase 1/3 Deficiency
Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Reactive hypoglycemia, Prima... OMIM:600955
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Sideroblastic anemia, Extramedullary hematopoiesis, Anemia, Increased mean corpuscular volume, Hy... OMIM:617021
Short Stature Due To Ghsr Deficiency
Decreased serum insulin-like growth factor 1, Hypoglycemia, Delayed puberty ORPHA:314811
Homozygous 11P15-P14 Deletion Syndrome
Renal tubular dysfunction, Hyperinsulinemia, Hypoglycemia, Generalized aminoaciduria OMIM:606528
Multiple Endocrine Neoplasia Type 1
Angiofibromas, Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Pancrea... ORPHA:652
Hypoglycemia, Leucine-Induced
Hypoglycemia, Hyperinsulinemic hypoglycemia OMIM:240800
Lipodystrophy, Familial Partial, Type 3
Maternal diabetes, Insulin resistance, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Pol... OMIM:604367
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Hepatomegaly, Proteinuria, Hyperinsulinemia, Hyperhidrosis, Glycosuria, Renal Fanconi syndrome, P... ORPHA:263455
Hemochromatosis, Type 5
Increased circulating ferritin concentration, Elevated transferrin saturation, Abnormal circulati... OMIM:615517
Post-Traumatic Pituitary Deficiency
Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Hypoglycemi... ORPHA:95619
Glucagonoma
Neoplasm of the pancreas, Hepatomegaly, Diabetes mellitus, Elevated circulating growth hormone co... ORPHA:97280
Distal Myopathy, Tateyama Type
Hypercholesterolemia, Abnormal circulating creatine kinase concentration ORPHA:488650
Thrombocytopenia 5
B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia, Thrombocy... OMIM:616216
Pituitary Hormone Deficiency, Combined, 2
Decreased thyroid-stimulating hormone level, Reduced circulating prolactin concentration, Neonata... OMIM:262600
Hemoglobin E Disease
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... ORPHA:2133
Estrogen Resistance
Increased circulating osteocalcin level, Impaired glucose tolerance, Hyperinsulinemia, Increased ... OMIM:615363
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Endocardial Fibroelastosis
Hypoglycemia, Cryptorchidism, Congestive heart failure, Restrictive cardiomyopathy, Anterior hypo... ORPHA:2022
Diamond-Blackfan Anemia 8
Macrocytic anemia, Increased mean corpuscular volume, Neutropenia OMIM:612563
Retinitis Pigmentosa
Hypoplasia of penis, Hyperinsulinemia, Hypogonadism, Type II diabetes mellitus, Abnormal testis m... ORPHA:791
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Sparse eyelashes OMIM:300946
Iron Overload, Susceptibility To
Increased circulating ferritin concentration, Elevated transferrin saturation, Elevated circulati... OMIM:620121
Ataxia-Oculomotor Apraxia 4
Ataxia, Elevated circulating alpha-fetoprotein concentration, Hypoalbuminemia, Dystonia, Hypercho... OMIM:616267
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Splenomegaly, Stomatocytosis, Increased mean corpuscular volum... OMIM:185000
Zollinger-Ellison Syndrome
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Multiple lipomas, Elevated circulating... ORPHA:913
Analbuminemia
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypoalbuminemia, Elevated circulat... OMIM:616000
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Increased circulating ferritin concentration, Anisopoikilocytosis, Reticulocytopenia, Hepatosplen... ORPHA:300298
Congenital Disorder Of Glycosylation, Type Iio
Decreased circulating ceruloplasmin concentration, Elevated circulating creatine kinase concentra... OMIM:616828
Obesity Due To Congenital Leptin Deficiency
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... ORPHA:66628
Ataxia With Vitamin E Deficiency
Hypertriglyceridemia, Ataxia, Dysmetria, Increased LDL cholesterol concentration, Xanthelasma, Pr... OMIM:277460
Coronary Artery Disease, Autosomal Dominant 2
Impaired glucose tolerance, Sudden cardiac death, Myocardial infarction, Glucose intolerance, Hyp... OMIM:610947
Hyperinsulinism-Hyperammonemia Syndrome
Increased urine alpha-ketoglutarate concentration, Hyperinsulinemic hypoglycemia, Fasting hyperin... ORPHA:35878
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Cryptorchidism, Hyperinsulinemia, Polycystic ovaries, Type II dia... ORPHA:3085
Aceruloplasminemia
Torticollis, Diabetes mellitus, Ataxia, Decreased serum iron, Increased circulating ferritin conc... OMIM:604290
Cancer-Associated Retinopathy
Neoplasm of the pancreas, Pancreatic adenocarcinoma, Testicular neoplasm, Hematological neoplasm,... ORPHA:71505
Erythrocyte Lactate Transporter Defect
Elevated circulating creatine kinase concentration OMIM:245340
Obesity Due To Leptin Receptor Gene Deficiency
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... ORPHA:179494
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Pancytopenia, Ataxia, Megaloblastic anemia, Increased mean corpuscular volume, Thrombocytopenia OMIM:613839
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Impaired gluconeogenesis, Hypoglycemia, Hepatic steatosis OMIM:261650
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypertriglyceridemia, Hypoglycemia ORPHA:366
Donohue Syndrome
Precocious puberty, Long penis, Hyperinsulinemia, Cholestasis, Ovarian cyst, Hepatic fibrosis, Pa... OMIM:246200
Gitelman Syndrome
Urinary incontinence, Maternal diabetes, Decreased urinary potassium, Hyperhidrosis, Glucose into... ORPHA:358
3-Methylglutaconic Aciduria Type 1
Hepatomegaly, Hypoglycemia ORPHA:67046
Carney Complex
Hepatocellular carcinoma, Thyroid carcinoma, Papillary thyroid carcinoma, Neoplasm of the breast,... ORPHA:1359
Diamond-Blackfan Anemia 3
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia OMIM:610629
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Nonketotic hypoglycemia, Abnormal circulating insulin concentration, Hypoglycemic seizures, Incre... ORPHA:293964
Dyskeratosis Congenita
Neoplasm of the pancreas, Hepatomegaly, Diabetes mellitus, Splenomegaly, Lymphoma, Urethral steno... ORPHA:1775
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... OMIM:620058
X-Linked Sideroblastic Anemia
Abnormality of iron homeostasis, Splenomegaly, Glucose intolerance, Anemia ORPHA:75563
Sitosterolemia 1
Reticulocytosis, Hyperapobetalipoproteinemia, Thrombocytopenia, Splenomegaly, Giant platelets, El... OMIM:210250
Severe Neurodegenerative Syndrome With Lipodystrophy
Hepatomegaly, Insulin resistance, Hyperinsulinemia, Cirrhosis, Hepatic steatosis ORPHA:363400
Insulin-Resistance Syndrome Type B
Fasting hyperinsulinemia, Glucose intolerance, Fasting hypoglycemia, Hyperglycemia, Abnormal sali... ORPHA:2298
Dietary Iron Overload Disease
Hepatomegaly, Viral hepatitis, Diabetes mellitus, Hepatocellular carcinoma, Congestive heart fail... ORPHA:139507
Morgagni-Stewart-Morel Syndrome
Diabetes mellitus, Hyperuricemia, Hypercholesterolemia, Hirsutism, Action tremor ORPHA:77296
Neonatal Hemochromatosis
Increased circulating ferritin concentration, Increased serum iron, Hypoglycemia ORPHA:446
Methylcobalamin Deficiency Type Cble
Hypomethioninemia, Macrocytic anemia, Pancytopenia, Hyperhomocystinemia, Increased mean corpuscul... ORPHA:2169
Bone Marrow Failure Syndrome 6
Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia, Lymphopenia, Anemia OMIM:618849
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome
Neonatal insulin-dependent diabetes mellitus, Aplasia/Hypoplasia of the pancreas ORPHA:65288
Obesity Due To Melanocortin 4 Receptor Deficiency
Hypertension, Hyperinsulinemia, Type II diabetes mellitus ORPHA:71529
Hemochromatosis, Type 4
Hepatomegaly, Diabetes mellitus, Impaired glucose tolerance, Glucose intolerance, Impotence, Card... OMIM:606069
Acquired Generalized Lipodystrophy
Hepatomegaly, Acute pancreatitis, Astrocytoma, Proteinuria, Insulin resistance, Lymphoma, Insulin... ORPHA:79086
Mitochondrial Complex Iii Deficiency, Nuclear Type 3
Hepatomegaly, Hypoglycemia OMIM:615158
Estrogen Resistance Syndrome
Enlarged polycystic ovaries, Increased circulating gonadotropin level, Absence of secondary sex c... ORPHA:785
Cholesteryl Ester Storage Disease
Splenomegaly, Hypertriglyceridemia, Hypercholesterolemia ORPHA:75234
Hepatic Lipase Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration OMIM:614025
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Hyperinsulinemic hypoglycemia, Diabetes mellitus, Delayed thelarche, Delayed puberty OMIM:616033
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Hypoglycemia, Precocious puberty, Insulin-resistant diabetes mellitus, Long penis, Hyperinsulinem... OMIM:262190
Short Fifth Metacarpals-Insulin Resistance Syndrome
Splenomegaly, Hyperinsulinemia ORPHA:66518
Glucocorticoid Resistance, Generalized
Hypoglycemia, Irregular menstruation, Increased circulating ACTH level, Hypertension, Increased c... OMIM:615962
Galactokinase Deficiency
Hepatomegaly, Hypergonadotropic hypogonadism, Hypoglycemia, Hyperinsulinemia, Hepatosplenomegaly,... ORPHA:79237
Lipodystrophy, Familial Partial, Type 1
Hepatomegaly, Acute pancreatitis, Insulin-resistant diabetes mellitus, Hypertension, Hyperglycemia OMIM:608600
Combined Oxidative Phosphorylation Deficiency 34
Hepatomegaly, Hypergonadotropic hypogonadism, Hypoglycemia, Elevated circulating thyroid-stimulat... OMIM:617872
Cog4-Cdg
Ataxia, Thick hair, Hepatosplenomegaly, Hypercholesterolemia, Thrombocytopenia ORPHA:263501
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Hyperglycemia, Hyperinsulinemia ORPHA:329249
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Hypertension, Adrenal hyperplasia, Hypoglycemia, Adrenogenital syndrome OMIM:201910
Solitary Fibrous Tumor
Abnormal peritoneum morphology, Hypoglycemia, Neoplasm of the liver, Recurrent hypoglycemia, Hypo... ORPHA:2126
X-Linked Acrogigantism
Enlarged pituitary gland, Decreased thyroid-stimulating hormone level, Diabetes insipidus, Elevat... ORPHA:300373
Refractory Anemia With Excess Blasts
Acute myeloid leukemia, Abnormal circulating protein concentration, Anemia of inadequate producti... ORPHA:86839
Hypertriglyceridemia 1
Glucose intolerance, Hypopituitarism OMIM:145750
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Hypercholesterolemia, Maturity-onset diabetes of the young ORPHA:254531
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Glucose intolerance, Male hypogonadism, Hypergonadotropic hypogonadism, Hyperglycemia OMIM:307500
Mpi-Cdg
Hepatomegaly, Portal hypertension, Hepatic fibrosis, Hyperinsulinemic hypoglycemia, Hypothyroidism ORPHA:79319
Obesity Due To Sim1 Deficiency
Glucose intolerance, Postural hypotension with compensatory tachycardia, Hyperinsulinemia, Hypote... ORPHA:369873
Diamond-Blackfan Anemia 6
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume OMIM:612561
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Hemolytic anemia, Reticulocytosis, Hepatosplenomegaly, Decreased mean corpuscular volume, Hypokal... OMIM:611590
Mitochondrial Complex Iii Deficiency, Nuclear Type 11
Hypoglycemia, Pancreatitis OMIM:620137
Pituitary Adenoma 1, Multiple Types
Elevated circulating growth hormone concentration, Pituitary adenoma, Irregular menstruation, Inc... OMIM:102200
Dyskeratosis Congenita, Autosomal Dominant 1
Alopecia, Aplastic anemia, Ataxia, Anemia, Leukopenia, Premature graying of hair, Increased mean ... OMIM:127550
Body Mass Index Quantitative Trait Locus 20
Hyperinsulinemia OMIM:618406
Propionic Acidemia
Hepatomegaly, Arrhythmia, Hypoglycemia, Cardiomyopathy ORPHA:35
Oslam Syndrome
Increased mean corpuscular volume, Abnormality of neutrophils ORPHA:2760
Congenital Generalized Lipodystrophy
Hepatomegaly, Diabetes mellitus, Precocious puberty in females, Insulin resistance, Hyperinsuline... ORPHA:528
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... ORPHA:3203
Cushing Syndrome Due To Ectopic Acth Secretion
Adrenal hyperplasia, Pancreatoblastoma, Pituitary corticotropic cell adenoma, Neoplasm of the thy... ORPHA:99889
Lipodystrophy, Familial Partial, Type 5
Hepatomegaly, Decreased adiponectin level, Decreased serum leptin, Irregular menstruation, Diabet... OMIM:615238
Beta-Thalassemia Intermedia
Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Diabetes mellitus, Anemia of inadequate ... ORPHA:231222
Apolipoprotein C-Ii Deficiency
Hypertriglyceridemia, Splenomegaly, Increased circulating chylomicron concentration, Decreased ci... OMIM:207750
Combined Oxidative Phosphorylation Deficiency 52
Hypoglycemia, Adrenal insufficiency, Hypertrophic cardiomyopathy, Hepatic steatosis, Pancreatitis OMIM:619386
Lipodystrophy, Familial Partial, Type 4
Insulin-resistant diabetes mellitus, Insulin resistance, Hypertension, Oligomenorrhea, Hepatic st... OMIM:613877
Shwachman-Diamond Syndrome
Normocytic anemia, Acute myeloid leukemia, Macrocytic anemia, Transient neutropenia, Aplastic ane... ORPHA:811
Pituitary Hormone Deficiency, Combined, 6
Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Hypoglycemia, Decreased... OMIM:613986
Laron Syndrome
Hypercholesterolemia, Hypoglycemia ORPHA:633
Thymic Neuroendocrine Tumor
Calcium nephrolithiasis, Pituitary null cell adenoma, Pancreatic islet cell adenoma, Neoplasm of ... ORPHA:97289
Hypercholesterolemia, Familial, 3
Xanthelasma, Abnormal LDL cholesterol concentration, Hypercholesterolemia OMIM:603776
Abdominal Obesity-Metabolic Syndrome 3
Hypertriglyceridemia, Increased LDL cholesterol concentration, Type II diabetes mellitus, Hyperch... OMIM:615812
Retinitis Pigmentosa And Erythrocytic Microcytosis
Anisocytosis, Decreased serum iron, Decreased mean corpuscular volume, Elliptocytosis, Poikilocyt... OMIM:616959
Pparg-Related Familial Partial Lipodystrophy
Hepatomegaly, Diabetes mellitus, Dysmenorrhea, Maternal diabetes, Splenomegaly, Insulin resistanc... ORPHA:79083
Gracile Syndrome
Increased serum pyruvate, Increased circulating ferritin concentration, Increased serum iron OMIM:603358
Hemochromatosis, Neonatal
Increased circulating ferritin concentration, Increased serum iron, Hypoglycemia, Abnormality of ... OMIM:231100
Pituitary Stalk Interruption Syndrome
Ectopic posterior pituitary, Diabetes insipidus, Hypoglycemia, Adrenal hypoplasia, Cryptorchidism... ORPHA:95496
Mandibuloacral Dysplasia
Alopecia, Hypertriglyceridemia, Increased circulating free fatty acid level, Insulin resistance, ... ORPHA:2457
Congenital Disorder Of Glycosylation, Type Ib
Hepatomegaly, Renal cyst, Proximal tubulopathy, Hepatic fibrosis, Cirrhosis, Hyperinsulinemic hyp... OMIM:602579
Bone Marrow Failure Syndrome 3
Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Thrombocytopenia, Persistence of hemoglobi... OMIM:617052
Pancreatitis, Hereditary
Diabetes mellitus, Pancreatic calcification, Pancreatic pseudocyst, Pancreatitis, Exocrine pancre... OMIM:167800
Hypercholesterolemia, Familial, 2
Increased LDL cholesterol concentration, Xanthelasma, Hypercholesterolemia OMIM:144010
Alstrom Syndrome
Hepatomegaly, Renal insufficiency, Chronic active hepatitis, Hypergonadotropic hypogonadism, Decr... OMIM:203800
Hemochromatosis, Type 1
Hepatomegaly, Diabetes mellitus, Hypogonadotropic hypogonadism, Splenomegaly, Congestive heart fa... OMIM:235200
Polyendocrine-Polyneuropathy Syndrome
Hypoglycemia, Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Central hypothyroidis... OMIM:616113
Multiple Endocrine Neoplasia, Type I
Hypoglycemia, Pancreatic islet cell adenoma, Elevated circulating growth hormone concentration, P... OMIM:131100
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased urinary cortisol level, Decreased circulating ACTH concentration, Hypertension, Increas... OMIM:615954
9Q31.1Q31.3 Microdeletion Syndrome
Hypercholesterolemia, Type II diabetes mellitus, Thick hair, Highly arched eyebrow ORPHA:401923
Body Mass Index Quantitative Trait Locus 19
Insulin resistance, Hyperinsulinemia, Increased serum leptin OMIM:617885
Genetic Hyperferritinemia Without Iron Overload
Increased circulating ferritin concentration, Abnormal serum iron concentration, Abnormal transfe... ORPHA:254704
Hemochromatosis, Type 2B
Splenomegaly, Elevated transferrin saturation, Increased circulating ferritin concentration, Incr... OMIM:613313
Acth Deficiency, Isolated
Decreased circulating cortisol level, Adrenal hypoplasia, Jaundice, Adrenocorticotropic hormone d... OMIM:201400
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Decreased circulating cortisol level, Hypoglycemia, Precocious puberty, Cryptorchidism, Increased... OMIM:614736
Aceruloplasminemia
Refractory anemia, Torticollis, Decreased circulating ceruloplasmin concentration, Decreased circ... ORPHA:48818
Temple Syndrome
Hypercholesterolemia, Hypertriglyceridemia, Maturity-onset diabetes of the young OMIM:616222
Lipodystrophy, Familial Partial, Type 2
Hepatomegaly, Acute pancreatitis, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Polycyst... OMIM:151660
Congenital Isolated Acth Deficiency
Decreased circulating cortisol level, Adrenal hypoplasia, Hepatitis, Hypoglycemic seizures, Adren... ORPHA:199296
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Hepatomegaly, Hypoglycemia, Hepatocellular carcinoma, Portal fibrosis, Hepatic fibrosis, Cirrhosi... ORPHA:369
Cholesteryl Ester Storage Disease
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Bone-marrow foam cells, Hypersplen... OMIM:278000
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Ketotic hypoglycemia, S... ORPHA:79240
Hyperaldosteronism, Familial, Type I
Adrenal hyperplasia, Adrenogenital syndrome, Hypertension, Hyperaldosteronism, Decreased circulat... OMIM:103900
Adrenocortical Carcinoma
Increased urinary cortisol level, Diabetes mellitus, Paradoxical increased cortisol secretion on ... ORPHA:1501
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Decreased HDL cholesterol concentration, Hypoalbuminemia, Hyperthreoninemia, Abnormal circulating... ORPHA:247598
Tenorio Syndrome
Raynaud phenomenon, Syncope, Hypoglycemia, Hypoinsulinemia OMIM:616260
Short Stature, Dauber-Argente Type
Fasting hyperinsulinemia OMIM:619489
Pancreatic Agenesis 2
Pancreatic aplasia, Pancreatic hypoplasia, Diabetes mellitus, Exocrine pancreatic insufficiency OMIM:615935
Citrullinemia, Type Ii, Neonatal-Onset
Hypertyrosinemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Conjugated hyper... OMIM:605814
Majeed Syndrome
Anemia of inadequate production, Microcytic anemia, Hepatosplenomegaly, Decreased mean corpuscula... OMIM:609628
Hereditary Chronic Pancreatitis
Jaundice, Diabetes mellitus, Recurrent pancreatitis, Pancreatic calcification ORPHA:676
Hemochromatosis, Type 3
Increased circulating ferritin concentration, Elevated transferrin saturation, Increased serum ir... OMIM:604250
Citrullinemia Type Ii
Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia, Tremor, Hype... ORPHA:247585
16Q24.3 Microdeletion Syndrome
Highly arched eyebrow, Increased mean corpuscular volume, Abnormal hair pattern, Thrombocytopenia ORPHA:261250
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hypertriglyceridemia, Hypoglycemia, Elevated circulating creatine kinase concentration, Abnormal ... ORPHA:264580
Lipodystrophy, Congenital Generalized, Type 1
Hepatomegaly, Acute pancreatitis, Diabetes mellitus, Decreased serum leptin, Splenomegaly, Hyperi... OMIM:608594
Generalized Glucocorticoid Resistance Syndrome
Increased urinary cortisol level, Adrenal hyperplasia, Hypoglycemia, Precocious puberty, Increase... ORPHA:786
Combined Oxidative Phosphorylation Deficiency 41
Decreased circulating cortisol level, Hypoglycemia, Elevated circulating creatine kinase concentr... OMIM:618838
Dominant Beta-Thalassemia
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Diabetes melli... ORPHA:231226
Pancreatic Agenesis 1
Pancreatic hypoplasia, Pancreatic aplasia, Neonatal insulin-dependent diabetes mellitus, Exocrine... OMIM:260370
Glycogen Storage Disease Ixb
Splenomegaly, Hepatomegaly, Increased hepatic glycogen content, Hypoglycemia OMIM:261750
Smith-Magenis Syndrome
Hypercholesterolemia, Synophrys, Hypertriglyceridemia OMIM:182290
Seckel Syndrome 10
Acute pancreatitis, Diabetes mellitus, Impaired glucose tolerance, Elevated circulating luteinizi... OMIM:617253
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Dicarboxylic aciduria, Fasting hyperinsulinemia, Hypoglycemic seizures, Hepatic necrosis, Hyperin... ORPHA:71212
Beta-Thalassemia Major
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Diabetes melli... ORPHA:231214
Classic Galactosemia
Male infertility, Hepatomegaly, Decreased serum insulin-like growth factor 1, Premature ovarian i... ORPHA:79239
Hyperlipoproteinemia, Type I
Splenomegaly, Hyperlipidemia, Hepatosplenomegaly, Lactescent serum, Increased circulating chylomi... OMIM:238600
Hypobetalipoproteinemia, Familial, 1
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Ataxia, Acanthocytosis, Decreased ... OMIM:615558
Diamond-Blackfan Anemia 7
Macrocytic anemia, Increased mean corpuscular volume, Neutropenia OMIM:612562
Hypermanganesemia With Dystonia 1
Hypermanganesemia, Tremor, Steppage gait, Increased total iron binding capacity, Unconjugated hyp... OMIM:613280
Rabson-Mendenhall Syndrome
Increased pineal volume, Enlarged ovaries, Impaired glucose tolerance, Precocious puberty, Insuli... ORPHA:769
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypercholesterolemia, Abnormal circulating lipid concentration, Hypoalbuminemia, Hypertriglycerid... ORPHA:567548
Gaisböck Syndrome
Hypertriglyceridemia, Diabetes mellitus, Splenomegaly, Increased mean corpuscular hemoglobin conc... ORPHA:90041
Diamond-Blackfan Anemia
Acute myeloid leukemia, Pure red cell aplasia, Erythroid hypoplasia, Low anterior hairline, Retic... ORPHA:124
Low Phospholipid-Associated Cholelithiasis
Diabetes mellitus, Liver abscess, Cholangitis, Intrahepatic cholestasis, Biliary cirrhosis, Neopl... ORPHA:69663
Congenital Analbuminemia
Hyperlipidemia, Increased alpha-globulin, Hypoalbuminemia, Hypercholesterolemia, Hypoproteinemia ORPHA:86816
Alpha-Fetoprotein, Hereditary Persistence Of
Elevated circulating alpha-fetoprotein concentration OMIM:615970
Sheehan Syndrome
Decreased circulating cortisol level, Reduced circulating prolactin concentration, Gonadotropin d... ORPHA:91355
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Hypercholesterolemia, Maturity-onset diabetes of the young ORPHA:96184
Lipodystrophy, Congenital Generalized, Type 2
Hepatomegaly, Acute pancreatitis, Decreased serum leptin, Splenomegaly, Hyperinsulinemia, Nephrol... OMIM:269700
Nephrotic Syndrome, Type 11
Hypercholesterolemia, Hypoalbuminemia OMIM:616730
Pyruvate Carboxylase Deficiency
Increased serum pyruvate, Hyperalaninemia, Athetosis, Hypoglycemia OMIM:266150
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency
Hyperlipidemia, Hypoglycemia, Hyperuricemia ORPHA:364
Elliptocytosis 3
Decreased mean corpuscular volume, Pyropoikilocytosis, Elliptocytosis, Chronic hemolytic anemia OMIM:617948
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Decreased circulating cortisol level, Bilateral cryptorchidism, Male hypogonadism, Decreased circ... ORPHA:90793
Carnitine-Acylcarnitine Translocase Deficiency
Hepatomegaly, Hypoglycemia, Cardiac arrest, Ventricular tachycardia, Atrioventricular block, Prem... OMIM:212138
Immunodeficiency 103, Susceptibility To Fungal Infections
Abnormal B cell count, Decreased serum iron, Hypereosinophilia, Abnormal proportion of CD8-positi... OMIM:212050
Maple Syrup Urine Disease
Hypoglycemia, Pancreatitis OMIM:248600
Glucocorticoid Deficiency 2
Decreased circulating cortisol level, Increased circulating ACTH level, Recurrent hypoglycemia OMIM:607398
Immunodeficiency 96
Increased proportion of gamma-delta T cells, Increased mean corpuscular volume OMIM:619774
Dysbetalipoproteinemia
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Diabetes mellitus, Increased LDL c... ORPHA:412
Beta-Thalassemia
Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Anemia, Abnormality of iron homeostasis, Th... ORPHA:848
Glycogen Storage Disease Ixc
Hepatomegaly, Hypoglycemia, Splenomegaly, Bile duct proliferation, Cirrhosis, Fasting hypoglycemi... OMIM:613027
Juvenile Polyposis Syndrome
Neoplasm of the pancreas, Juvenile gastrointestinal polyposis, Juvenile colonic polyposis, Viscer... ORPHA:2929
Combined Oxidative Phosphorylation Deficiency 40
Decreased circulating cortisol level, Hypoglycemia, Elevated circulating creatine kinase concentr... OMIM:618835
Combined Oxidative Phosphorylation Deficiency 42
Decreased circulating cortisol level, Hypoglycemia, Elevated circulating creatine kinase concentr... OMIM:618839
Pituitary Apoplexy
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Elevated c... ORPHA:95613
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Hepatic steatosis, Diabetes mellitus, Jaundice, Aplasia/Hypoplasia of the pancreas, Abnormality o... ORPHA:93111
Mitchell-Riley Syndrome
Absent gallbladder, Diabetes mellitus, Biliary atresia, Cholestasis, Acholic stools, Hyperglycemi... OMIM:615710
Acquired Aneurysmal Subarachnoid Hemorrhage
Hypercholesterolemia, Leukocytosis, Hyperglycemia ORPHA:90065
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Increased urinary cortisol level, Paradoxical increased cortisol secretion on dexamethasone suppr... ORPHA:189427
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Decreased circulating cortisol level, Neonatal hypoglycemia, Increased circulating androstenedion... ORPHA:90791
Cholestasis, Progressive Familial Intrahepatic, 8
Conjugated hyperbilirubinemia, Hypercholesterolemia, Elevated circulating alpha-fetoprotein conce... OMIM:619662
Mandibuloacral Dysplasia With Type A Lipodystrophy
Calcinosis, Sparse scalp hair, Alopecia, Impaired glucose tolerance, Hyperlipidemia, Insulin-resi... OMIM:248370
Late-Onset Isolated Acth Deficiency
Hypoparathyroidism, Decreased circulating cortisol level, Premature ovarian insufficiency, Hypogl... ORPHA:199299
Smith-Magenis Syndrome
Hypercholesterolemia, Synophrys, Hypertriglyceridemia, Gait disturbance ORPHA:819
Lipodystrophy, Congenital Generalized, Type 4
Hepatomegaly, Splenomegaly, Insulin resistance, Hyperinsulinemia, Hepatic steatosis OMIM:613327
Duodenal Atresia
Abnormality of the pancreas, Annular pancreas ORPHA:1203
Carnitine Palmitoyl Transferase 1A Deficiency
Hepatomegaly, Hypoglycemia, Sudden cardiac death, Arrhythmia, Hypertrophic cardiomyopathy ORPHA:156
Ornithine Transcarbamylase Deficiency
Splenomegaly, Hypoglycemia, Hyperammonemia ORPHA:664
Annular Pancreas
Annular pancreas ORPHA:675
Pancreas, Annular
Annular pancreas OMIM:167750
Neuhauser Syndrome
Hypercholesterolemia, Low anterior hairline, Ataxia OMIM:249310
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hemolytic anemia, Reticulocytosis, Dystonia, Anisocytosis, Leukocytosis, Hepatosplenomegaly, Decr... OMIM:618278
Non-Acquired Panhypopituitarism
Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypogonadism, Dec... ORPHA:90695
Mandibuloacral Dysplasia With Type B Lipodystrophy
Insulin-resistant diabetes mellitus, Hyperinsulinemia, Stage 5 chronic kidney disease, Glucose in... OMIM:608612
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Hepatomegaly, Hypoglycemia, Cerebellar hemorrhage, Cardiomyopathy, Pancreatitis OMIM:251000
Woodhouse-Sakati Syndrome
Streak ovary, Decreased response to growth hormone stimulation test, Insulin-resistant diabetes m... ORPHA:3464
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Hepatomegaly, Hypoglycemia, Increased hepatic echogenicity, Fasting hypoglycemia, Impaired glucon... OMIM:261680
Multiple Endocrine Neoplasia, Type Iia
Hyperparathyroidism, Thyroid C cell hyperplasia, Hypertension, Increased circulating cortisol lev... OMIM:171400
Renal Cysts And Diabetes Syndrome
Diabetes mellitus, Impaired glucose tolerance, Hypospadias, Maturity-onset diabetes of the young,... OMIM:137920
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Hypoglycemia, Cholestatic liver disease, Hypertrophic cardiomyopathy, Hypoketotic h... ORPHA:5
Lysinuric Protein Intolerance
Hyperalaninemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterole... ORPHA:470
Bile Acid Synthesis Defect, Congenital, 5
Splenomegaly, Iron deficiency anemia, Increased total iron binding capacity, Increased serum bile... OMIM:616278
Leprechaunism
Hepatomegaly, Enlarged ovaries, Insulin resistance, Long penis, Hyperinsulinemia, Hypercalciuria,... ORPHA:508
Diamond-Blackfan Anemia 1
Macrocytic anemia, Congenital hypoplastic anemia, Reticulocytopenia, Persistence of hemoglobin F,... OMIM:105650
Isolated Permanent Neonatal Diabetes Mellitus
Neonatal insulin-dependent diabetes mellitus, Hypovolemia, Glycosuria, Hyperglycemia, Pancreatic ... ORPHA:99885
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia ORPHA:209902
Dopamine Beta-Hydroxylase Deficiency
Abnormal EKG, Orthostatic hypotension, Hypoglycemia, Insulin resistance, Hyperinsulinemia, Retrog... ORPHA:230
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Hypercholesterolemia, Hypertriglyceridemia, Nail dystrophy OMIM:610644
Glycogen Storage Disease Ib
Hepatomegaly, Pancreatic fibrosis, Hypoglycemia, Hepatocellular carcinoma, Splenomegaly, Hyperten... OMIM:232220
Prader-Willi Syndrome
Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Precocious ... OMIM:176270
Atypical Werner Syndrome
Fasting hyperinsulinemia, Neoplasm of the breast, Hyperglycemia, Hepatic steatosis, Renal neoplas... ORPHA:79474
Infantile Liver Failure Syndrome 2
Cardiomyopathy, Jaundice, Hypoglycemia OMIM:616483
Megalocornea-Intellectual Disability Syndrome
Hypercholesterolemia, Ataxia ORPHA:2479
Galloway-Mowat Syndrome 7
Hypercholesterolemia OMIM:618348
Pituitary Adenoma 4, Acth-Secreting
Impaired glucose tolerance, Pituitary adenoma, Increased circulating ACTH level, Glucose intolera... OMIM:219090
Igg4-Related Thyroid Disease
Pancreatic fibrosis, Retroperitoneal fibrosis, Thyrotoxicosis with diffuse goiter, Abnormal pitui... ORPHA:64744
Hypoadrenocorticism, Familial
Hyponatremia, Hyperkalemia, Hypoglycemia OMIM:240200
Glycogen Storage Disease Ia
Hepatomegaly, Hypoglycemia, Hepatocellular carcinoma, Hypertension, Fasting hypoglycemia, Delayed... OMIM:232200
Familial Renal Glucosuria
Insulin resistance, Abnormal circulating insulin concentration, Glycosuria, Hyperglycemia, Abnorm... ORPHA:69076
Martinez-Frias Syndrome
Hypoplasia of the gallbladder, Hypospadias, Extrahepatic biliary duct atresia, Annular pancreas, ... OMIM:601346
Addison Disease
Hypoparathyroidism, Decreased circulating cortisol level, Primary testicular failure, Hypoglycemi... ORPHA:85138
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Abnormal blood inorganic cation concentration, Action tremor, Splenomegaly, Truncal ataxia, Dysdi... ORPHA:309854
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Hypogonadotropic hypogo... ORPHA:226307
Mitochondrial Complex I Deficiency, Nuclear Type 20
Hypoglycemia, Microvesicular hepatic steatosis, Congestive heart failure, Dilated cardiomyopathy,... OMIM:611126
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus
Type I diabetes mellitus, Hepatomegaly, Insulin-resistant diabetes mellitus, Reduced pancreatic b... OMIM:226980
Immunodeficiency 47
Normocytic anemia, Accessory spleen, Decreased circulating copper concentration, Splenomegaly, Le... OMIM:300972
Pancreatic And Cerebellar Agenesis
Diabetes mellitus, Hypoglycemia, Hyperglycemia, Pancreatic hypoplasia, Pancreatic aplasia OMIM:609069
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Decreased circulating cortisol level, Adrenal hyperplasia, Hypoglycemia, Jaundice, Increased circ... ORPHA:90790
Lysosomal Acid Lipase Deficiency
Hyponatremia, Hypertriglyceridemia, Bone-marrow foam cells, Hypersplenism, Vacuolated lymphocytes... ORPHA:275761
Steinert Myotonic Dystrophy
Endometrial carcinoma, Brain neoplasm, Diabetes mellitus, Decreased response to growth hormone st... ORPHA:273
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hypertriglyceridemia, Hypoglycemia, Chronic neutropenia, Hyperlipidemia, Hypoglycemic seizures, X... ORPHA:79259
Orthostatic Hypotension 2
Orthostatic hypotension, Hypoglycemia OMIM:618182
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Hepatomegaly, Hypoglycemia, Hepatic steatosis OMIM:201450
Lmna-Related Cardiocutaneous Progeria Syndrome
Absent eyebrow, Hypertriglyceridemia, Absent eyelashes, Premature graying of hair, Sparse hair, H... ORPHA:363618
Castleman Disease
Decreased mean corpuscular volume, Thrombocytopenia, Elevated circulating C-reactive protein conc... ORPHA:160
Fructose-1,6-Bisphosphatase Deficiency
Hepatomegaly, Tachycardia, Hypoglycemia OMIM:229700
Eisenmenger Syndrome
Elevated circulating C-reactive protein concentration, Hypochromic microcytic anemia, Iron defici... ORPHA:97214
Gracile Syndrome
Decreased transferrin saturation, Increased circulating ferritin concentration, Elevated hepatic ... ORPHA:53693
Lipodystrophy, Familial Partial, Type 7
Sparse scalp hair, Hypertriglyceridemia, Impaired glucose tolerance, Insulin resistance, Dysmetri... OMIM:606721
Tyrosinemia, Type I
Gastrointestinal hemorrhage, Hepatomegaly, Hypoglycemia, Splenomegaly, Melena, Pancreatic islet-c... OMIM:276700
Acute Adrenal Insufficiency
Decreased circulating cortisol level, Decreased female libido, Hypoglycemia, Orthostatic hypotens... ORPHA:95409
Isolated Thyroid-Stimulating Hormone Deficiency
Hypercholesterolemia, Abnormal circulating thyroglobulin level, Neonatal hyperbilirubinemia ORPHA:90674
Perlman Syndrome
Cryptorchidism, Pancreatic islet-cell hyperplasia, Hypoglycemia OMIM:267000
Combined Pituitary Hormone Deficiencies, Genetic Forms
Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypogonadism, Dec... ORPHA:95494
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hepatomegaly, Diabetes mellitus, Hypoglycemia, Glycosuria OMIM:616026
Porphyria Cutanea Tarda
Decreased circulating hepcidin concentration, Diabetes mellitus, Abnormal erythrocyte enzyme leve... ORPHA:101330
Glycogen Storage Disease Ic
Hepatomegaly, Hypoglycemia, Spider hemangioma, Chronic pancreatitis, Hepatocellular carcinoma, Hy... OMIM:232240
Renal-Hepatic-Pancreatic Dysplasia 1
Hepatomegaly, Pancreatic fibrosis, Malformation of the hepatic ductal plate, Portal hypertension,... OMIM:208540
Symptomatic Form Of Hfe-Related Hemochromatosis
Diabetes mellitus, Splenomegaly, Elevated transferrin saturation, Increased circulating ferritin ... ORPHA:465508
Turner Syndrome Due To Structural X Chromosome Anomalies
Hashimoto thyroiditis, High urinary gonadotropin level, Ectopic kidney, Increased circulating gon... ORPHA:99413
Turner Syndrome
Hashimoto thyroiditis, High urinary gonadotropin level, Ectopic kidney, Increased circulating gon... ORPHA:881
Mosaic Monosomy X
Hashimoto thyroiditis, High urinary gonadotropin level, Ectopic kidney, Increased circulating gon... ORPHA:99228
Monosomy X
Hashimoto thyroiditis, High urinary gonadotropin level, Ectopic kidney, Increased circulating gon... ORPHA:99226
Igg4-Related Submandibular Gland Disease
Renal insufficiency, Cholangitis, Eosinophilia, Retroperitoneal fibrosis, Abnormality of the thyr... ORPHA:449432
Liver Disease, Severe Congenital
Biliary hyperplasia, Aminoaciduria, Elevated hepatic iron concentration, Pancreatic hypoplasia, H... OMIM:619991
Atelis Syndrome 2
Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia OMIM:620185
Oculocerebrorenal Syndrome Of Lowe
Hyponatremia, Sparse scalp hair, Hypoammonemia, Thrombocytopenia, Fine hair, Hypokalemia, Hyperal... ORPHA:534
Glycerol Kinase Deficiency
Adrenocortical hypoplasia, Hypoglycemia, Chronic pancreatitis, Cryptorchidism, Adrenal insufficiency OMIM:307030
Trichohepatoenteric Syndrome 1
Curly hair, Brittle hair, Increased mean platelet volume, Splenomegaly, Woolly hair, Fine hair, I... OMIM:222470
Bardet-Biedl Syndrome 20
Hypercholesterolemia OMIM:619471
Lowe Oculocerebrorenal Syndrome
Elevated circulating creatine kinase concentration, Elevated maternal serum alpha-fetoprotein, Bi... OMIM:309000
Alström Syndrome
Decreased response to growth hormone stimulation test, Urinary incontinence, Elevated circulating... ORPHA:64
Syndromic Diarrhea
Hypopigmentation of hair, Brittle hair, Increased mean platelet volume, Splenomegaly, Woolly hair... ORPHA:84064
Paroxysmal Nocturnal Hemoglobinuria
Hemolytic anemia, Reticulocytosis, Pancytopenia, Decreased serum iron, Abnormal erythrocyte enzym... ORPHA:447
Simpson-Golabi-Behmel Syndrome
Prolonged QT interval, Hepatomegaly, Bundle branch block, Hypoglycemia, Supernumerary nipple, Spl... ORPHA:373
Beckwith-Wiedemann Syndrome
Hepatomegaly, Adrenocortical cytomegaly, Hypoglycemia, Adrenocortical carcinoma, Splenomegaly, Cr... ORPHA:116
Alagille Syndrome 1
Hypercholesterolemia, Hypertriglyceridemia OMIM:118450
Leukocyte Adhesion Deficiency
Acute myeloid leukemia, Glomerulonephritis, Hemolytic-uremic syndrome, Peritonitis, Hyperinsuline... ORPHA:2968
Alpha-Fetoprotein Deficiency
Decreased circulating alpha-fetoprotein concentration OMIM:615969
Biliary, Renal, Neurologic, And Skeletal Syndrome
Conjugated hyperbilirubinemia, Splenomegaly, Increased circulating ferritin concentration, Elevat... OMIM:619534
Pmm2-Cdg
Hypogonadotropic hypogonadism, Proteinuria, Elevated circulating growth hormone concentration, In... ORPHA:79318
Homozygous Familial Hypercholesterolemia
Increased LDL cholesterol concentration, Hypercholesterolemia, Hyperlipidemia 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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