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Gene: Gm5127 MGI:3648285

Gene Summary

Name:

predicted gene 5127

Synonyms:

N/A

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
No Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

Phenotype	Allele	Zyg	Life Stage	P Value
increased circulating aspartate transaminase level	Gm5127^em1(IMPC)J	HOM	Early adult	7.98×10^-07
increased circulating creatinine level	Gm5127^em1(IMPC)J	HOM	Early adult	2.81×10^-05
increased circulating triglyceride level	Gm5127^em1(IMPC)J	HEM	Early adult	2.37×10^-11
increased hematocrit	Gm5127^em1(IMPC)J	HEM	Early adult	8.71×10^-09
increased erythrocyte cell number	Gm5127^em1(IMPC)J	HEM	Early adult	2.71×10^-09

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lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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X-ray

XRay Images Skull Lateral Orientation

10 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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X-ray

XRay Images Forepaw

10 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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Electroretinography 3

Fundus file

5 Images

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Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

8 Images

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Electrocardiogram (ECG)

Waveform Image

14 Images

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Human diseases caused by Gm5127 mutations

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

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

Human diseases associated with Gm5127 (0 diseases)
Human diseases predicted to be associated with Gm5127 (344 diseases)

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

The table below shows human diseases predicted to be associated to Gm5127 by phenotypic similarity.

Disease	Matching phenotypes	Source
Erythrocytosis, Familial, 8	Reduced erythrocyte bisphosphoglycerate mutase activity, Polycythemia, Increased circulating hemo...	OMIM:222800
Erythrocytosis, Familial, 3	Increased circulating hemoglobin concentration, Increased red blood cell mass, Increased hematocrit	OMIM:609820
Erythrocytosis, Familial, 7	Polycythemia, Increased circulating hemoglobin concentration, Increased hematocrit	OMIM:617981
Erythrocytosis, Familial, 6	Polycythemia, Increased circulating hemoglobin concentration, Increased hematocrit	OMIM:617980
Erythrocytosis, Familial, 5	Polycythemia, Increased circulating hemoglobin concentration, Increased hematocrit	OMIM:617907
Cramps, Familial Adolescent	Elevated circulating creatine kinase concentration	OMIM:218050
Muscle Cramps, Familial	Elevated circulating creatine kinase concentration	OMIM:158400
Isolated Asymptomatic Elevation Of Creatine Phosphokinase	Elevated circulating creatine kinase concentration	ORPHA:206599
Erythrocytosis, Familial, 4	Polycythemia, Increased circulating hemoglobin concentration, Increased hematocrit	OMIM:611783
Adenosine Triphosphate, Elevated, Of Erythrocytes	Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia	OMIM:102900
Pentosuria	Abnormal circulating carbohydrate concentration, Abnormal circulating enzyme concentration	ORPHA:2843
Hypertriglyceridemia 2	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia	OMIM:619324
Atr-16 syndrome	Abnormal erythrocyte morphology	DECIPHER:65
Polycythemia Vera	Increased red blood cell mass, Leukocytosis, Increased circulating hemoglobin concentration, Thro...	OMIM:263300
Atherosclerosis Susceptibility	Hypertriglyceridemia, Decreased HDL cholesterol concentration	OMIM:108725
Anemia, Sideroblastic, 5	Reduced hematocrit, Hypochromic microcytic anemia, Anemia, Thrombocytopenia, Neutropenia	OMIM:619523
Hemophagocytic Lymphohistiocytosis, Familial, 3	Hypertriglyceridemia, Anemia, Hemophagocytosis, Hepatosplenomegaly, Granulocytopenia	OMIM:608898
Erythrocytosis, Familial, 1	Increased circulating hemoglobin concentration, Increased red blood cell mass, Splenomegaly, Incr...	OMIM:133100
Hypoalphalipoproteinemia, Primary, 1	Hypertriglyceridemia, Decreased HDL cholesterol concentration	OMIM:604091
Fish-Eye Disease	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentr...	OMIM:136120
Cholesterol-Ester Transfer Protein Deficiency	Hypotriglyceridemia, Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemi...	ORPHA:79506
Hemoglobin E-Beta-Thalassemia Syndrome	Increased circulating ferritin concentration, Anemia, Abnormal hemoglobin	ORPHA:231249
Lecithin:Cholesterol Acyltransferase Deficiency	Hypertriglyceridemia, Hemolytic anemia, Decreased HDL cholesterol concentration, Normochromic anemia	OMIM:245900
Proteasome-Associated Autoinflammatory Syndrome 5	Hypertriglyceridemia, Splenomegaly	OMIM:619175
Dehydrated Hereditary Stomatocytosis	Macrocytic anemia, Increased mean corpuscular hemoglobin concentration, Increased mean corpuscula...	ORPHA:3202
Erythrocytosis, Familial, 2	Increased circulating hemoglobin concentration, Increased red blood cell mass, Increased hematocrit	OMIM:263400
Hyperlipoproteinemia, Type Ii, And Deafness	Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia	OMIM:144300
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To	Hyperbilirubinemia, Reduced erythrocyte adenosine triphosphate concentration, Reticulocytosis, Er...	OMIM:301083
Niemann-Pick Disease, Type B	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Sea-blue histiocytosis, Anemia, Bo...	OMIM:607616
Glycogen Storage Disease Vi	Hypertriglyceridemia, Hypercholesterolemia, Hyperlipidemia	OMIM:232700
Hypercholesterolemia, Familial, 4	Hypertriglyceridemia, Decreased LDL cholesterol concentration, Hypercholesterolemia	OMIM:603813
Hyperbilirubinemia, Shunt, Primary	Hyperbilirubinemia, Anemia of inadequate production, Reticulocytosis, Splenomegaly, Erythroid hyp...	OMIM:237800
Vacuolar Myopathy With Sarcoplasmic Reticulum Protein Aggregates	Elevated circulating creatine kinase concentration	ORPHA:88635
Glutathione Peroxidase Deficiency	Compensated hemolytic anemia, Neonatal hyperbilirubinemia, Heinz bodies	OMIM:614164
Red Cell Phospholipid Defect With Hemolysis	Hyperbilirubinemia, Splenomegaly, Reticulocytosis	OMIM:179700
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Chronic hemolytic anemia, Anemia, Reduced red cell pyruvate kinase level, Reticulocytosis, Poikil...	ORPHA:766
Anemia, Congenital Dyserythropoietic, Type Iv	Reduced hematocrit, Anemia, Reduced haptoglobin level, Hyperbilirubinemia, Anemia of inadequate p...	OMIM:613673
Anemia, Sideroblastic, 2, Pyridoxine-Refractory	Anemia, Hypochromia, Sideroblastic anemia, Decreased mean corpuscular volume, Elevated transferri...	OMIM:205950
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency	Hypertriglyceridemia	ORPHA:366
Tempi Syndrome	Polycythemia, Increased hematocrit	ORPHA:284227
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hypertriglyceridemia, Anemia, Hemophagocytosis, Thrombocytopenia, Splenomegaly, Increased circula...	OMIM:603552
Rh-Null, Amorph Type	Hyperbilirubinemia, Reticulocytosis, Anisocytosis, Stomatocytosis, Hemolytic anemia	OMIM:617970
Elliptocytosis 2	Elliptocytosis, Neonatal hyperbilirubinemia, Hemolytic anemia, Reticulocytosis	OMIM:130600
Cryohydrocytosis	Reticulocytosis, Splenomegaly, Stomatocytosis, Hemolytic anemia, Pseudohyperkalemia	OMIM:185020
Renal Failure, Progressive, With Hypertension	Elevated circulating creatinine concentration	OMIM:161900
Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia Due To	Reduced erythrocyte gamma-glutamyl cysteine synthetase activity, Hemolytic anemia, Reticulocytosis	OMIM:230450
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Hypertriglyceridemia, Anemia, Hemophagocytosis, Thrombocytopenia, Splenomegaly, Hepatosplenomegal...	OMIM:613101
Hypertriglyceridemia 1	Hypertriglyceridemia, Increased VLDL cholesterol concentration	OMIM:145750
Dehydrated Hereditary Stomatocytosis 2	Anisopoikilocytosis, Increased mean corpuscular hemoglobin concentration, Increased mean corpuscu...	OMIM:616689
Primary Familial Polycythemia	Polycythemia, Abnormal hemoglobin	ORPHA:90042
Protoporphyria, Erythropoietic, 1	Hypertriglyceridemia, Hemolytic anemia	OMIM:177000
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment	Elevated circulating creatinine concentration	OMIM:242530
Cyanosis, Transient Neonatal	Anemia, Methemoglobinemia, Reticulocytosis	OMIM:613977
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Hypertriglyceridemia, Anemia, Hemophagocytosis, Pancytopenia, Splenomegaly, Increased circulating...	OMIM:618398
Morbid Obesity And Spermatogenic Failure	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia, Increased LD...	OMIM:615703
Spherocytosis, Type 4	Hyperbilirubinemia, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia	OMIM:612653
Spherocytosis, Type 2	Hyperbilirubinemia, Spherocytosis, Reticulocytosis, Splenomegaly, Acanthocytosis, Hemolytic anemia	OMIM:616649
Hypobetalipoproteinemia, Familial, 1	Hypertriglyceridemia, Steatorrhea, Decreased HDL cholesterol concentration, Decreased LDL cholest...	OMIM:615558
Coronary Artery Disease, Autosomal Dominant 2	Hypertriglyceridemia, Increased LDL cholesterol concentration	OMIM:610947
Hypertriglyceridemia, Transient Infantile	Hypertriglyceridemia, Splenomegaly	OMIM:614480
Hepatic Lipase Deficiency	Hypertriglyceridemia, Increased HDL cholesterol concentration, Hypercholesterolemia	OMIM:614025
Spherocytosis, Type 5	Abnormal platelet count, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia, Abnormal...	OMIM:612690
Lipase Deficiency, Combined	Hypertriglyceridemia	OMIM:246650
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase	Polycythemia, Methemoglobinemia	OMIM:250800
Immunodeficiency 109 With Lymphoproliferation	Hypertriglyceridemia, Absent circulating B cells, Splenomegaly, Pancytopenia	OMIM:620282
Asplenia, Isolated Congenital	Howell-Jolly bodies, Thrombocytosis, Asplenia	OMIM:271400
Abdominal Obesity-Metabolic Syndrome 4	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentr...	OMIM:618620
Lymphoproliferative Syndrome, X-Linked, 2	Aplastic anemia, Hypertriglyceridemia, Hemophagocytosis, Pancytopenia, Splenomegaly, Increased ci...	OMIM:300635
Delta-Beta-Thalassemia	Anemia, Microcytic anemia, Abnormal hemoglobin	ORPHA:231237
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive	Hypertriglyceridemia, Increased LDL cholesterol concentration, Elevated circulating creatine kina...	OMIM:616516
Nephrogenic Syndrome Of Inappropriate Antidiuresis	Decreased serum creatinine, Hyponatremia, Decreased circulating renin level, Reduced blood urea n...	OMIM:300539
Overhydrated Hereditary Stomatocytosis	Decreased mean corpuscular hemoglobin concentration, Reticulocytosis, Abnormal mean corpuscular v...	ORPHA:3203
Familial Pseudohyperkalemia	Hyperkalemia, Increased mean corpuscular volume, Reticulocytosis, Episodic hemolytic anemia, Stom...	ORPHA:90044
Cystinosis, Adult Nonnephropathic	Elevated circulating creatinine concentration	OMIM:219750
Glycogen Storage Disease Ixa1	Hypertriglyceridemia, Hypercholesterolemia, Splenomegaly, Hyperuricemia	OMIM:306000
Hypermanganesemia With Dystonia 1	Hypermanganesemia, Polycythemia, Increased total iron binding capacity, Unconjugated hyperbilirub...	OMIM:613280
Gaisböck Syndrome	Hypertriglyceridemia, Increased red blood cell count, Elevated plasma cell count, Increased mean ...	ORPHA:90041
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Normochromic anemia, Hyperbilirubinemia, Nonspherocytic hemolytic anemia, Reti...	OMIM:235700
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency	Hypertriglyceridemia, Increased HDL cholesterol concentration	ORPHA:140905
Lcat Deficiency	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Decreased circulating apolipoprote...	ORPHA:650
Erythrocyte Lactate Transporter Defect	Elevated circulating creatine kinase concentration	OMIM:245340
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Hypertriglyceridemia, Increased circulating ferritin concentration, Anemia, Acute myeloid leukemi...	ORPHA:158057
Anemia, Congenital Dyserythropoietic, Type Ib	Anemia, Anemia of inadequate production, Reticulocytosis, Poikilocytosis, Anisocytosis, Splenomeg...	OMIM:615631
Hyperlipidemia, Familial Combined, 3	Xanthelasma, Increased LDL cholesterol concentration, Hyperlipidemia, Increased VLDL cholesterol ...	OMIM:144250
Spherocytosis, Type 1	Hyperbilirubinemia, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia	OMIM:182900
Saccharopinuria	Elevated plasma citrulline, Cystinuria, Hypercystinemia, Hyperlysinemia, Hyperammonemia, Abnormal...	ORPHA:3124
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To	Hyperbilirubinemia, Hemolytic anemia, Reticulocytosis	OMIM:266120
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin	Poikilocytosis, Anisocytosis, Anemia of inadequate production, Oval macrocytosis	OMIM:603529
Iron-Refractory Iron Deficiency Anemia	Poikilocytosis, Elevated circulating hepcidin concentration, Anisocytosis, Hypochromic microcytic...	OMIM:206200
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Hypochromic microcytic anemia, HbS hemoglobin, Splenic infarction, Persistence of hemoglobin F, R...	ORPHA:251380
Immunodeficiency 114, Folate-Responsive	Hypertriglyceridemia, Megaloblastic anemia, Thrombocytopenia, Splenomegaly, Lymphopenia, Increase...	OMIM:620603
Lipodystrophy, Congenital Generalized, Type 3	Hypertriglyceridemia, Hypocalcemia, Hepatosplenomegaly, Splenomegaly, Hypercholesterolemia	OMIM:612526
Cholesteryl Ester Storage Disease	Hypertriglyceridemia, Hypercholesterolemia, Splenomegaly	ORPHA:75234
Hypouricemia, Familial Renal, Due To Tubular Hypersecretion	Hypouricemia	OMIM:307830
Thrombocytopenia With Beta-Thalassemia, X-Linked	Reticulocytosis, Reduced platelet alpha granules, Increased mean platelet volume, Thrombocytopeni...	OMIM:314050
Dimethylglycine Dehydrogenase Deficiency	Elevated urinary N,N-dimethylglycine level, Elevated circulating N,N-dimethylglycine concentratio...	OMIM:605850
Encephalopathy, Progressive, With Or Without Lipodystrophy	Hypertriglyceridemia	OMIM:615924
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome	Hypertriglyceridemia	ORPHA:436182
Abcd Syndrome	Polycythemia	OMIM:600501
Apolipoprotein C-Ii Deficiency	Hypertriglyceridemia, Increased circulating chylomicron concentration, Decreased circulating apol...	OMIM:207750
Anemia, Congenital Dyserythropoietic, Type Ii	Anemia of inadequate production, Splenomegaly, Reticulocytosis	OMIM:224100
Combined Oxidative Phosphorylation Deficiency 34	Increased blood urea nitrogen, Elevated circulating creatinine concentration	OMIM:617872
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Anemia, Hemophagocytosis, Increase...	OMIM:267700
Lactic Acidosis, Chronic Adult Form	Hyperuricemia	OMIM:150170
Rajab Interstitial Lung Disease With Brain Calcifications 2	Hypertriglyceridemia, Hypoalbuminemia, Hepatosplenomegaly, Microcytic anemia	OMIM:619013
Obesity Due To Melanocortin 4 Receptor Deficiency	Hypertriglyceridemia	ORPHA:71529
Anemia, Congenital Dyserythropoietic, Type Ia	Hyperbilirubinemia, Macrocytic dyserythropoietic anemia, Anemia of inadequate production, Bite ce...	OMIM:224120
Interstitial Nephritis, Karyomegalic	Increased blood urea nitrogen, Elevated circulating creatinine concentration	OMIM:614817
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia	Decreased serum creatinine, Hypocystinemia, Hypohomocysteinemia	OMIM:617744
Immunodeficiency 97 With Autoinflammation	Autoimmune hemolytic anemia, Hypertriglyceridemia, Increased circulating ferritin concentration, ...	OMIM:619802
Glutamate-Cysteine Ligase Deficiency	Hepatosplenomegaly, Hemolytic anemia, Reticulocytosis	ORPHA:33574
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Hypertriglyceridemia, Increased circulating ferritin concentration, Impaired lymphocyte transform...	OMIM:619313
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Elevated circulating creatinine concentration, Hyperuricemia	OMIM:617056
Body Mass Index Quantitative Trait Locus 19	Hypertriglyceridemia, Hyperlipidemia	OMIM:617885
Nephronophthisis-Like Nephropathy 2	Elevated circulating creatinine concentration	OMIM:619468
Macrophage Activation Syndrome	Hypertriglyceridemia, Anemia, Hemophagocytosis, Abnormal natural killer cell count, Elevated circ...	ORPHA:158061
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Fava bean-induced hemolytic anemia, Leukocytosis, Reticulocytosis, Poikilocytosis, Unconjugated h...	OMIM:300908
Renal Tubular Acidosis, Distal, 1	Hypocalcemia, Elevated circulating creatinine concentration, Hypokalemia	OMIM:179800
Renal Tubular Acidosis, Proximal	Elevated circulating creatinine concentration	OMIM:179830
Focal Segmental Glomerulosclerosis 1	Hypoalbuminemia, Hyperlipidemia, Anemia	OMIM:603278
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Hypertriglyceridemia, Abnormal circulating lipid concentration, Decreased HDL cholesterol concent...	ORPHA:247598
Glut1 Deficiency Syndrome 2	Reduced haptoglobin level, Splenomegaly, Hemolytic anemia, Reticulocytosis	OMIM:612126
Cholesteryl Ester Storage Disease	Hypertriglyceridemia, Steatorrhea, Decreased HDL cholesterol concentration, Anemia, Bone-marrow f...	OMIM:278000
Pyruvate Kinase Deficiency Of Red Cells	Chronic hemolytic anemia, Reduced haptoglobin level, Reduced red cell pyruvate kinase level, Reti...	OMIM:266200
Hereditary Arterial And Articular Multiple Calcification Syndrome	Decreased serum creatinine	ORPHA:289601
Citrullinemia, Type Ii, Neonatal-Onset	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Elevated plasma citrulline, Increa...	OMIM:605814
Sitosterolemia 1	Xanthelasma, Chronic hemolytic anemia, Giant platelets, Anemia, Reduced haptoglobin level, Elevat...	OMIM:210250
Idiopathic Non-Lupus Full-House Nephropathy	Elevated circulating creatinine concentration	ORPHA:567544
Livedoid Vasculopathy	Abnormal circulating lipid concentration, Anemia, Pancytopenia, Hyperhomocystinemia, Leukocytosis...	ORPHA:542643
Fanconi Renotubular Syndrome 3	Elevated circulating creatinine concentration, Aminoaciduria	OMIM:615605
Overhydrated Hereditary Stomatocytosis	Increased mean corpuscular volume, Hyperbilirubinemia, Reticulocytosis, Splenomegaly, Stomatocyto...	OMIM:185000
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hypertriglyceridemia, Anemia, Hemophagocytosis, Pancytopenia, Hypoproteinemia, Increased total bi...	OMIM:603553
Adenine Phosphoribosyltransferase Deficiency	Elevated circulating creatinine concentration	OMIM:614723
Tangier Disease	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Decreased circulating apolipoprote...	OMIM:205400
Diarrhea 7, Protein-Losing Enteropathy Type	Hypoalbuminemia, Hypercholesterolemia, Hyperlipidemia	OMIM:615863
Cerebral Creatine Deficiency Syndrome 2	Decreased serum creatinine, Elevated circulating guanidinoacetic acid concentration	OMIM:612736
Plin1-Related Familial Partial Lipodystrophy	Hypertriglyceridemia	ORPHA:280356
Lipodystrophy, Familial Partial, Type 4	Hypertriglyceridemia	OMIM:613877
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis	Elevated circulating creatinine concentration, Elevated circulating creatine kinase concentration	OMIM:620138
Hyperlipoproteinemia, Type Id	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Increased circulating chylomicron ...	OMIM:615947
Harderoporphyria	Reticulocytosis, Splenomegaly, Neonatal hyperbilirubinemia, Increased circulating ferritin concen...	OMIM:618892
Coenzyme Q10 Deficiency, Primary, 8	Elevated circulating creatinine concentration	OMIM:616733
Nephrotic Syndrome, Type 2	Hypoalbuminemia, Hyperlipidemia	OMIM:600995
Coach Syndrome 2	Elevated circulating creatinine concentration	OMIM:619111
Acute Interstitial Pneumonia	Elevated circulating creatinine concentration, Reduced hematocrit, Elevated circulating C-reactiv...	ORPHA:79126
Hypouricemia, Renal, 1	Hypouricemia, Elevated circulating creatinine concentration	OMIM:220150
Citrullinemia, Type Ii, Adult-Onset	Hypertriglyceridemia, Hyperammonemia, Elevated plasma citrulline, Hyperargininemia	OMIM:603471
Cryoglobulinemia, Familial Mixed	Elevated circulating creatinine concentration	OMIM:123550
Rh Deficiency Syndrome	Reduced haptoglobin level, Macrocytic anemia, Hyperbilirubinemia, Hypochromia, Spherocytosis, Ret...	ORPHA:71275
Hemophagocytic Syndrome Associated With An Infection	Hypertriglyceridemia, Anemia, Hemophagocytosis, Abnormal natural killer cell count, Pancytopenia,...	ORPHA:158048
Osteopetrosis, Autosomal Recessive 9	Hyperkalemia, Elevated circulating creatinine concentration	OMIM:620366
Hypouricemia, Renal, 2	Hypouricemia	OMIM:612076
Hyperlipoproteinemia, Type I	Lactescent serum, Increased circulating chylomicron concentration, Hyperlipidemia, Hepatosplenome...	OMIM:238600
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Increased blood urea nitrogen, Elevated circulating creatinine concentration	OMIM:612924
Lipodystrophy, Familial Partial, Type 1	Hypertriglyceridemia	OMIM:608600
Polycythemia Vera	Acute leukemia, Leukocytosis, Polycythemia, Splenomegaly, Thrombocytosis	ORPHA:729
Familial Hemophagocytic Lymphohistiocytosis	Hypertriglyceridemia, Anemia, Hemophagocytosis, Thrombocytopenia, Splenomegaly, Hypoalbuminemia, ...	ORPHA:540
Tyrosinosis	Hypertyrosinemia	OMIM:276800
Thrombotic Thrombocytopenic Purpura	Decreased serum creatinine, Microangiopathic hemolytic anemia, Thrombocytopenia, Reticulocytosis	ORPHA:54057
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3	Increased blood urea nitrogen, Elevated circulating creatinine concentration	OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2	Increased blood urea nitrogen, Elevated circulating creatinine concentration	OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6	Increased blood urea nitrogen, Elevated circulating creatinine concentration	OMIM:612926
Hypouricemia, Hypercalcinuria, And Decreased Bone Density	Hypouricemia	OMIM:242050
Histidinemia	Elevated urinary N-tau-ribosylhistidine level, Hyperhistidinemia, Histidinuria	OMIM:235800
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Increased total iron binding capacity, Abnormal blood inorganic cation concentration, Abnormal tr...	ORPHA:309854
Lipodystrophy, Familial Partial, Type 5	Hypertriglyceridemia, Increased C-peptide level	OMIM:615238
C3 Glomerulopathy	Elevated circulating creatinine concentration	ORPHA:329918
Proteasome-Associated Autoinflammatory Syndrome 3	Hypertriglyceridemia, Anemia, Thrombocytopenia, Splenomegaly, Lymphopenia	OMIM:617591
Cholestasis-Lymphedema Syndrome	Hyperlipidemia, Splenomegaly, Conjugated hyperbilirubinemia	OMIM:214900
Alpha-Thalassemia	Anisopoikilocytosis, Hemoglobin Barts, Anemia, Reticulocytosis, Hepatosplenomegaly, Splenomegaly,...	ORPHA:846
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Increased mean corpuscular hemoglobin concentration, Increased red cell hemolysis by shear stress...	OMIM:194380
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Increased blood urea nitrogen, Elevated circulating creatinine concentration	OMIM:612925
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency	Decreased hemoglobin concentration, Hyperbilirubinemia, Hemolytic anemia, Reticulocytosis	ORPHA:713
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Hyperlipidemia, Reticulocytosis, Increased blood urea nitrogen, Thrombocytopenia, Microangiopathi...	OMIM:235400
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency	Elevated circulating creatinine concentration, Hyperuricemia	ORPHA:79233
Hereditary Elliptocytosis	Hyperbilirubinemia, Reticulocytosis, Poikilocytosis, Elliptocytosis, Splenomegaly, Neonatal hyper...	ORPHA:288
Poems Syndrome	Polycythemia, Thrombocytosis, Splenomegaly	ORPHA:2905
Temple Syndrome	Hypertriglyceridemia, Hypercholesterolemia	OMIM:616222
Lipodystrophy, Familial Partial, Type 3	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hyperuricemia	OMIM:604367
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease	Elevated circulating alpha-fetoprotein concentration, Elevated circulating creatinine concentrati...	OMIM:613095
Pyropoikilocytosis, Hereditary	Pyropoikilocytosis, Elliptocytosis, Hemolytic anemia, Microspherocytosis	OMIM:266140
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Hypokalemia, Reticulocytosis, Hepatosplenomegaly, Decreased mean corpuscular volume, Hemolytic an...	OMIM:611590
Congenital Disorder Of Glycosylation, Type Ih	Hypoalbuminemia, Elevated circulating creatinine concentration	OMIM:608104
Phosphoglycerate Kinase 1 Deficiency	Erythroid hyperplasia, Hemolytic anemia, Reticulocytosis	OMIM:300653
Severe Neurodegenerative Syndrome With Lipodystrophy	Hypertriglyceridemia	ORPHA:363400
Glycogen Storage Disease Vii	Hyperuricemia, Elevated circulating creatine kinase concentration, Reticulocytosis, Increased tot...	OMIM:232800
Citrullinemia Type Ii	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Elevated plasma citrulline, Hypopr...	ORPHA:247585
Sickle Cell Anemia	Chronic hemolytic anemia, Iron deficiency anemia, Increased mean corpuscular volume, Leukocytosis...	ORPHA:232
Glycogen Storage Disease Ixc	Hypertriglyceridemia, Splenomegaly	OMIM:613027
Smith-Magenis Syndrome	Hypertriglyceridemia, Hypercholesterolemia	OMIM:182290
Idiopathic Steroid-Resistant Nephrotic Syndrome	Hypertriglyceridemia, Hypoalbuminemia, Hypercholesterolemia, Abnormal circulating lipid concentra...	ORPHA:567548
Nephronophthisis 2	Hyperkalemia, Elevated circulating creatinine concentration	OMIM:602088
Fumarase Deficiency	Hyperbilirubinemia, Polycythemia	OMIM:606812
Glycosylphosphatidylinositol Biosynthesis Defect 17	Hypertriglyceridemia	OMIM:618010
Reni Syndrome	Hypertriglyceridemia, Hypoalbuminemia, Lymphopenia	OMIM:617575
Relapsing Fever	Increased total bilirubin, Elevated circulating creatinine concentration, Elevated circulating C-...	ORPHA:91547
Down Syndrome	Leukemia, Polycythemia, Neutrophilia, Thrombocytopenia, Acute megakaryocytic leukemia	ORPHA:870
Imerslund-Gräsbeck Syndrome	Anisopoikilocytosis, Macrocytic anemia, Pancytopenia, Megaloblastic anemia, Abnormal hemoglobin c...	ORPHA:35858
Obesity Due To Congenital Leptin Deficiency	Hypertriglyceridemia, Decreased proportion of CD4-positive helper T cells	ORPHA:66628
Tangier Disease	Hypertriglyceridemia, Anemia, Thrombocytopenia, Hepatosplenomegaly, Hypocholesterolemia	ORPHA:31150
Obesity Due To Leptin Receptor Gene Deficiency	Hypertriglyceridemia, Decreased proportion of CD4-positive helper T cells	ORPHA:179494
Ataxia With Vitamin E Deficiency	Hypertriglyceridemia, Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia	OMIM:277460
Griscelli Syndrome Type 2	Hemophagocytosis, Pancytopenia, Hyperlipidemia, Splenomegaly, Neutropenia	ORPHA:79477
Abdominal Obesity-Metabolic Syndrome 3	Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia	OMIM:615812
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Hypertriglyceridemia, Anemia, Abnormal erythrocyte enzyme concentration or activity, Elevated cir...	ORPHA:264580
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency	Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia	ORPHA:209902
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Hypertriglyceridemia, Anemia, Elevated circulating creatine kinase concentration, Splenomegaly, H...	ORPHA:79240
Osteopetrosis, Autosomal Recessive 4	Thrombocytopenia, Anemia, Splenomegaly, Reticulocytosis	OMIM:611490
Preeclampsia	Elevated circulating creatinine concentration	ORPHA:275555
Akt2-Related Familial Partial Lipodystrophy	Hypertriglyceridemia	ORPHA:79085
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Elevated circulating long chain fatty acid concentration, Elevated circulating creatine kinase co...	OMIM:608836
Pparg-Related Familial Partial Lipodystrophy	Hypertriglyceridemia, Splenomegaly, Hyperuricemia	ORPHA:79083
Lysinuric Protein Intolerance	Hypertriglyceridemia, Hyperglycinemia, Steatorrhea, Decreased HDL cholesterol concentration, Anem...	ORPHA:470
Histidinemia	Hyperhistidinemia, Histidinuria	ORPHA:2157
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency	Hyperlipidemia, Hyperuricemia	ORPHA:364
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly	Elevated circulating creatinine concentration	OMIM:614376
Familial Partial Lipodystrophy, Dunnigan Type	Hypertriglyceridemia, Splenomegaly	ORPHA:2348
Werner Syndrome	Hypertriglyceridemia, Elevated hemoglobin A1c	OMIM:277700
Dysbetalipoproteinemia	Hypertriglyceridemia, Xanthelasma, Decreased HDL cholesterol concentration, Increased LDL cholest...	ORPHA:412
Chédiak-Higashi Syndrome	Hypertriglyceridemia, Anemia, Hemophagocytosis, Increased proportion of CD25+ mast cells, Pancyto...	ORPHA:167
Congenital Generalized Lipodystrophy	Hypertriglyceridemia, Increased C-peptide level, Hypercholesterolemia	ORPHA:528
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy	Hypertriglyceridemia, Increased LDL cholesterol concentration, Elevated circulating creatine kina...	ORPHA:98855
Smith-Magenis Syndrome	Hypertriglyceridemia, Hypercholesterolemia	ORPHA:819
Von Hippel-Lindau Syndrome	Polycythemia	OMIM:193300
Diffuse Alveolar Hemorrhage	Elevated circulating creatinine concentration	ORPHA:90060
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome	Hypertriglyceridemia	OMIM:615381
Hereditary Spherocytosis	Anemia, Spontaneous hemolytic crises, Increased mean corpuscular hemoglobin concentration, Hyperb...	ORPHA:822
X-Linked Emery-Dreifuss Muscular Dystrophy	Hypertriglyceridemia, Increased LDL cholesterol concentration, Elevated circulating creatine kina...	ORPHA:98863
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy	Hypertriglyceridemia, Increased LDL cholesterol concentration, Elevated circulating creatine kina...	ORPHA:98853
Emery-Dreifuss Muscular Dystrophy	Hypertriglyceridemia, Increased LDL cholesterol concentration, Elevated circulating creatine kina...	ORPHA:261
Thrombotic Thrombocytopenic Purpura, Hereditary	Reticulocytosis, Increased blood urea nitrogen, Thrombocytopenia, Microangiopathic hemolytic anem...	OMIM:274150
Car T Cell Therapy-Associated Cytokine Release Syndrome	Hyperbilirubinemia, Elevated circulating creatinine concentration	ORPHA:542323
Mandibuloacral Dysplasia	Hypertriglyceridemia, Increased circulating free fatty acid level, Hypercholesterolemia	ORPHA:2457
Cidec-Related Familial Partial Lipodystrophy	Hypertriglyceridemia	ORPHA:435651
Lipe-Related Familial Partial Lipodystrophy	Hypertriglyceridemia, Elevated circulating creatine kinase concentration	ORPHA:435660
Neutral Lipid Storage Disease With Ichthyosis	Hypertriglyceridemia, Abnormal granulocyte morphology, Abnormal circulating creatine kinase conce...	ORPHA:98907
Congenital Disorder Of Glycosylation, Type Iit	Decreased serum creatinine, Decreased HDL cholesterol concentration, Hypotriglyceridemia	OMIM:618885
Lysosomal Acid Lipase Deficiency	Hypertriglyceridemia, Xanthelasma, Steatorrhea, Hyperkalemia, Anemia, Vacuolated lymphocytes, Bon...	ORPHA:275761
Glycogen Storage Disease Iii	Hyperlipidemia, Elevated circulating creatine kinase concentration	OMIM:232400
Ogden Syndrome	Hyperbilirubinemia, Polycythemia, Thrombocytopenia, Iron deficiency anemia	OMIM:300855
46,Xy Sex Reversal 4	Increased blood urea nitrogen, Elevated circulating creatinine concentration	OMIM:154230
Familial Chylomicronemia Syndrome	Hypertriglyceridemia, Hyperlipidemia, Hepatosplenomegaly, Increased circulating chylomicron conce...	ORPHA:444490
Neuropathy, Hereditary Motor And Sensory, Okinawa Type	Mildly elevated creatine kinase, Hyperlipidemia	OMIM:604484
Lipodystrophy, Familial Partial, Type 6	Abnormal circulating lipid concentration, Hyperlipidemia, Elevated circulating creatine kinase co...	OMIM:615980
Aapoaiv Amyloidosis	Elevated circulating creatinine concentration, Hyperlipidemia	ORPHA:439232
H Syndrome	Hypertriglyceridemia, Histiocytosis, Microcytic anemia, Hepatosplenomegaly	ORPHA:168569
Senior-Loken Syndrome 1	Elevated circulating creatinine concentration	OMIM:266900
Seckel Syndrome 10	Hypertriglyceridemia, Elevated hemoglobin A1c	OMIM:617253
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature	Elevated circulating creatinine concentration, Reduced haptoglobin level	OMIM:301110
Lipodystrophy, Congenital Generalized, Type 4	Hypertriglyceridemia, Splenomegaly, Elevated circulating creatine kinase concentration	OMIM:613327
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Increased blood urea nitrogen, Elevated circulating creatinine concentration	OMIM:223900
Griscelli Syndrome Type 1	Hyperlipidemia	ORPHA:79476
Hereditary Amyloidosis With Primary Renal Involvement	Decreased HDL cholesterol concentration, Elevated circulating creatinine concentration, Decreased...	ORPHA:85450
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Elevated circulating creatinine concentration, Hyperuricemia	OMIM:174000
Bacterial Toxic-Shock Syndrome	Hypocalcemia, Hypoalbuminemia, Elevated circulating creatinine concentration, Elevated circulatin...	ORPHA:36234
Immunodeficiency 87 And Autoimmunity	Autoimmune hemolytic anemia, Hypertriglyceridemia, Hypokalemia, Elevated circulating C-reactive p...	OMIM:619573
Juvenile Nephropathic Cystinosis	Hypokalemia, Hypocalcemia, Hypouricemia, Hyponatremia, Hypophosphatemia, Hypocalcemic tetany, Ele...	ORPHA:411634
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Hypertriglyceridemia, Xanthelasma, Anemia, Hyperuricemia, Chronic neutropenia, Hyperlipidemia, Hy...	ORPHA:79259
Dopamine Beta-Hydroxylase Deficiency	Increased blood urea nitrogen, Elevated circulating creatinine concentration	ORPHA:230
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal	Hypertriglyceridemia, Hypercholesterolemia	OMIM:610644
Xp21 Deletion Syndrome	Hypertriglyceridemia, Elevated circulating creatine kinase concentration	ORPHA:261476
Chronic Visceral Acid Sphingomyelinase Deficiency	Hypertriglyceridemia, Abnormal circulating lipid concentration, Decreased HDL cholesterol concent...	ORPHA:77293
Diarrhea 10, Protein-Losing Enteropathy Type	Hypertriglyceridemia, Hypocalcemia, Hyponatremia, Hypomagnesemia, Hypoalbuminemia	OMIM:618183
Fanconi-Bickel Syndrome	Hypertriglyceridemia, Hypophosphatemia	ORPHA:2088
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Hypertriglyceridemia, Anemia, Accessory spleen, Splenomegaly, Polysplenia	OMIM:619418
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Splenomegaly	ORPHA:280365
Von Hippel-Lindau Disease	Polycythemia	ORPHA:892
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Elevated circulating creatinine concentration	ORPHA:247691
Multiple Myeloma	Elevated circulating creatinine concentration, Hypercalcemia, Hyperproteinemia	ORPHA:29073
Neutral Lipid Storage Disease With Myopathy	Hypertriglyceridemia, Splenomegaly, Elevated circulating creatine kinase concentration	OMIM:610717
Acquired Generalized Lipodystrophy	Hypertriglyceridemia, Abnormal circulating lipid concentration	ORPHA:79086
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Hyperlipidemia	ORPHA:369
Microtriplication 11Q24.1	Hyperlipidemia	ORPHA:289522
Alstrom Syndrome	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Elevated hemoglobin A1c, Hyperuric...	OMIM:203800
Igg4-Related Retroperitoneal Fibrosis	Increased blood urea nitrogen, Elevated circulating creatinine concentration, Elevated circulatin...	ORPHA:49041
Prader-Willi Syndrome	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia	OMIM:176270
Beckwith-Wiedemann Syndrome	Polycythemia, Splenomegaly, Elevated circulating alpha-fetoprotein concentration	ORPHA:116
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Hyponatremia, Elevated circulating creatinine concentration, Hypokalemia, Unconjugated hyperbilir...	ORPHA:90038
Cholestasis-Lymphedema Syndrome	Hyperlipidemia, Splenomegaly	ORPHA:1414
Papillorenal Syndrome	Elevated circulating creatinine concentration	OMIM:120330
Tubulointerstitial Nephritis And Uveitis Syndrome	Normocytic anemia, Reduced hematocrit, Elevated circulating C-reactive protein concentration, Nor...	ORPHA:91500
Oligomeganephronia	Elevated circulating creatinine concentration	ORPHA:2260
Lipodystrophy, Familial Partial, Type 2	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia	OMIM:151660
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Chronic hemolytic anemia, Leukocytosis, Reticulocytosis, Poikilocytosis, Unconjugated hyperbiliru...	OMIM:618278
Leukocyte Adhesion Deficiency	Acute myeloid leukemia, Leukocytosis, Abnormality of neutrophil physiology, Polycythemia, Impaire...	ORPHA:2968
Nephrotic Syndrome, Type 1	Hypoalbuminemia, Hypoproteinemia, Hyperlipidemia	OMIM:256300
Autosomal Dominant Polycystic Kidney Disease	Elevated circulating creatinine concentration	ORPHA:730
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Hypertriglyceridemia, Hypercalcemia	ORPHA:369837
Schimke Immuno-Osseous Dysplasia	Anemia, Abnormal proportion of naive CD4 T cells, Hyperlipidemia, Decreased proportion of naive C...	ORPHA:1830
Structural Heart Defects And Renal Anomalies Syndrome	Elevated circulating creatinine concentration	OMIM:617478
Congenital Analbuminemia	Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia, Increased alpha-globulin, Hypercholesterolemia	ORPHA:86816
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency	Hyperlipidemia	ORPHA:2089
Classical-Like Ehlers-Danlos Syndrome Type 2	Hypertriglyceridemia	ORPHA:536532
Lmna-Related Cardiocutaneous Progeria Syndrome	Hypertriglyceridemia, Hypercholesterolemia	ORPHA:363618
Hypomagnesemia 3, Renal	Hypocalcemic seizures, Increased circulating beta-C-terminal telopeptide concentration, Hyperuric...	OMIM:248250
Proteasome-Associated Autoinflammatory Syndrome 1	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Elevated circulating C-reactive pr...	OMIM:256040
Methanol Poisoning	Hyperlipidemia	ORPHA:31825
Cardiogenic Shock	Elevated circulating creatinine concentration	ORPHA:97292
Marburg Hemorrhagic Fever	Hypokalemia, Hyperamylasemia, Elevated circulating creatine kinase concentration, Hyperammonemia,...	ORPHA:99826
Telangiectasia, Hereditary Hemorrhagic, Type 2	Polycythemia, Anemia	OMIM:600376
Lipodystrophy, Congenital Generalized, Type 2	Hypertriglyceridemia, Elevated hemoglobin A1c, Splenomegaly	OMIM:269700
Kasabach-Merritt Phenomenon	Anemia, Reticulocytosis, Leukopenia, Thrombocytopenia, Microangiopathic hemolytic anemia, Neutrop...	ORPHA:2330
Paroxysmal Nocturnal Hemoglobinuria	Anemia, Reduced haptoglobin level, Pancytopenia, Abnormal erythrocyte enzyme concentration or act...	ORPHA:447
Mandibuloacral Dysplasia Progeroid Syndrome	Hypertriglyceridemia, Elevated hemoglobin A1c	OMIM:619127
Hemorrhagic Fever-Renal Syndrome	Hyperkalemia, Elevated circulating creatinine concentration, Hyperphosphatemia	ORPHA:340
Telangiectasia, Hereditary Hemorrhagic, Type 1	Polycythemia, Anemia	OMIM:187300
Renal Cysts And Diabetes Syndrome	Elevated circulating creatinine concentration, Hyperuricemia	OMIM:137920
Glycerol Kinase Deficiency	Hypertriglyceridemia, Hyperglycerolemia	OMIM:307030
Neutral Lipid Storage Myopathy	Hypertriglyceridemia, Abnormal circulating creatine kinase concentration	ORPHA:98908
Pauci-Immune Glomerulonephritis	Elevated circulating creatinine concentration	ORPHA:93126
Igg4-Related Kidney Disease	Elevated circulating creatinine concentration, Decreased retinol-binding protein level, Elevated ...	ORPHA:449395
Combined Deficiency Of Factor V And Factor Viii	Hyperlipidemia, Hyperuricemia	ORPHA:35909
Congenital Erythropoietic Porphyria	Increased erythrocyte protoporphyrin concentration, Reduced haptoglobin level, Reticulocytosis, P...	ORPHA:79277
Lipodystrophy, Congenital Generalized, Type 1	Hypertriglyceridemia, Splenomegaly	OMIM:608594
19P13.12 Microdeletion Syndrome	Hyperlipidemia	ORPHA:254346
Alagille Syndrome 1	Hypertriglyceridemia, Hypercholesterolemia	OMIM:118450
Carnitine Palmitoyltransferase Ii Deficiency	Hyperlipidemia, Elevated circulating creatine kinase concentration, Decreased plasma total carnit...	ORPHA:157
Yellow Fever	Hyperbilirubinemia, Elevated circulating creatinine concentration, Elevated circulating creatine ...	ORPHA:99829
Parenteral Nutrition-Associated Cholestasis	Conjugated hyperbilirubinemia, Hyperlipidemia, Splenomegaly, Abnormal circulating fatty-acid conc...	ORPHA:567983
Glycogen Storage Disease Ib	Xanthelasma, Hyperuricemia, Hyperlipidemia, Splenomegaly, Neutropenia	OMIM:232220
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Hyperlipidemia, Elevated circulating creatine kinase concentration, Hyperammonemia, Decreased pla...	ORPHA:228308
Wiedemann-Rautenstrauch Syndrome	Hypertriglyceridemia, Hypoplasia of the thymus	OMIM:264090
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Paradoxical increased cortisol secretion on dexamethasone suppression test, Hyperlipidemia, Hyper...	ORPHA:189427
Lipodystrophy, Familial Partial, Type 7	Hypertriglyceridemia, Hypercholesterolemia	OMIM:606721
Atypical Werner Syndrome	Hypertriglyceridemia	ORPHA:79474
Bardet-Biedl Syndrome	Hypertriglyceridemia, Decreased HDL cholesterol concentration	ORPHA:110
Familial Multiple Lipomatosis	Hyperlipidemia	ORPHA:199276
Glycogen Storage Disease Ic	Xanthelasma, Cyclic neutropenia, Hyperlipidemia, Hyperuricemia	OMIM:232240
Biliary, Renal, Neurologic, And Skeletal Syndrome	Hyperbilirubinemia, Conjugated hyperbilirubinemia, Hypoalbuminemia, Elevated circulating creatini...	OMIM:619534
Mandibuloacral Dysplasia With Type B Lipodystrophy	Hyperlipidemia	OMIM:608612
Primary Triglyceride Deposit Cardiomyovasculopathy	Elevated circulating creatine kinase concentration, Vacuolated lymphocytes, Hyperlipidemia, Splen...	ORPHA:565612
Wiedemann-Rautenstrauch Syndrome	Hypertriglyceridemia	ORPHA:3455
Glycogen Storage Disease Ia	Xanthelasma, Hyperlipidemia, Hyperuricemia	OMIM:232200
Mandibuloacral Dysplasia With Type B Lipodystrophy	Calcinosis, Hyperlipidemia	ORPHA:90154
Fabry Disease	Abnormal circulating lipid concentration, Hyperlipidemia, Anemia	ORPHA:324
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance	Hypoalbuminemia, Hyperlipidemia	ORPHA:567546
Mandibuloacral Dysplasia With Type A Lipodystrophy	Calcinosis, Hypercholesterolemia, Hyperlipidemia	OMIM:248370
Mandibuloacral Dysplasia With Type A Lipodystrophy	Hyperlipidemia	ORPHA:90153
Aromatase Deficiency	Hyperlipidemia	ORPHA:91
Alström Syndrome	Hypertriglyceridemia, Hyperlipidemia, Hepatosplenomegaly, Splenomegaly	ORPHA:64
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Hyponatremia, Hyperlipidemia	ORPHA:293987
Woodhouse-Sakati Syndrome	Hyperlipidemia	OMIM:241080
Woodhouse-Sakati Syndrome	Hyperlipidemia	ORPHA:3464
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 Gm5127

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 Gm5127.

No publications found that use IMPC mice or data for Gm5127.

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MGI Allele	Allele Type	Produced
Gm5127^em1(IMPC)J	Intra-exon deletion	Mice
Gm5127^{tm1e(KOMP)Wtsi}	Targeted, non-conditional allele	ES Cells
Gm5127^{tm87956(L1L2_Bact_P)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
Gm5127^{tm2e(KOMP)Wtsi}	Targeted, non-conditional allele	ES Cells

Sequence

Guides

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

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Gm5127 MGI:3648285

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

X-ray

X-ray

X-ray

X-ray

Electroretinography 3

Auditory Brain Stem Response

Electrocardiogram (ECG)

Human diseases caused by Gm5127 mutations

Histopathology

IMPC related publications

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Access Data Release 21.0 Data