Gene Summary

Name:
peptidase M20 domain containing 1
Synonyms:
4732466D17Rik

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
increased circulating phosphate level Pm20d1em1(IMPC)H HOM Early adult 8.67×10-05
increased hematocrit Pm20d1em1(IMPC)H HOM Early adult 1.19×10-05
increased circulating triglyceride level Pm20d1em1(IMPC)H HOM Early adult 2.88×10-05

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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.

Phenotype associated images not available

Human diseases caused by Pm20d1 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 Pm20d1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Hypertriglyceridemia 2
Hypercholesterolemia, Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:619324
Atherosclerosis Susceptibility
Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:108725
Hypoparathyroidism, Familial Isolated, 2
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia OMIM:618883
Erythrocytosis, Familial, 8
Polycythemia, Increased hematocrit, Splenomegaly, Increased circulating hemoglobin concentration,... OMIM:222800
Erythrocytosis, Familial, 3
Increased circulating hemoglobin concentration, Increased hematocrit, Increased red blood cell mass OMIM:609820
Hypoalphalipoproteinemia, Primary, 1
Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:604091
Type 2 Diabetes Mellitus
Insulin resistance, Type II diabetes mellitus OMIM:125853
Pseudohypoparathyroidism, Type Ii
Hyperphosphatemia, Hypocalcemia OMIM:203330
Erythrocytosis, Familial, 7
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia OMIM:617981
Erythrocytosis, Familial, 6
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia OMIM:617980
Cholesterol-Ester Transfer Protein Deficiency
Hypotriglyceridemia, Increased HDL cholesterol concentration, Hyperlipidemia, Hyperlipoproteinemi... ORPHA:79506
Fish-Eye Disease
Increased VLDL cholesterol concentration, Increased LDL cholesterol concentration, Decreased HDL ... OMIM:136120
Erythrocytosis, Familial, 5
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia OMIM:617907
Hyperinsulinism Due To Insr Deficiency
Insulin resistance, Hypoglycemia, Fasting hyperinsulinemia, Recurrent hypoglycemia, Abnormal circ... ORPHA:263458
Hemophagocytic Lymphohistiocytosis, Familial, 3
Hemophagocytosis, Hepatosplenomegaly, Hypertriglyceridemia, Anemia, Granulocytopenia OMIM:608898
Erythrocytosis, Familial, 4
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia OMIM:611783
Anemia, Sideroblastic, 5
Reduced hematocrit, Hypochromic microcytic anemia, Thrombocytopenia, Anemia, Neutropenia OMIM:619523
Proteasome-Associated Autoinflammatory Syndrome 5
Splenomegaly, Hypertriglyceridemia OMIM:619175
Hyperlipoproteinemia, Type Ii, And Deafness
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:144300
Hypercholesterolemia, Familial, 4
Decreased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:603813
Acanthosis Nigricans With Muscle Cramps And Acral Enlargement
Insulin resistance OMIM:200170
Glycogen Storage Disease Vi
Hyperlipidemia, Hypertriglyceridemia, Hypercholesterolemia OMIM:232700
Pseudohypoparathyroidism Type 2
Hypocalcemic tetany, Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia ORPHA:94090
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia ORPHA:2239
Lecithin:Cholesterol Acyltransferase Deficiency
Hemolytic anemia, Hypertriglyceridemia, Normochromic anemia, Decreased HDL cholesterol concentration OMIM:245900
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypertriglyceridemia ORPHA:366
Diabetes Mellitus, Ketosis-Prone
Insulin resistance, Diabetes mellitus OMIM:612227
Polycythemia Vera
Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Increased circul... OMIM:263300
Hemoglobin E-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin, Increased circulating ferritin concentration ORPHA:231249
Morbid Obesity And Spermatogenic Failure
Insulin resistance, Increased LDL cholesterol concentration, Type II diabetes mellitus, Hypertrig... OMIM:615703
Insulin Autoimmune Syndrome
Insulin resistance, Insulin-resistant diabetes mellitus, Reactive hypoglycemia, Nonketotic hypogl... ORPHA:411593
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Increased circulating ferritin concentration, Sideroblastic anemia, Hypochromia, Anemia, Elevated... OMIM:205950
Pseudohypoparathyroidism, Type Ib
Hyperphosphatemia, Hypocalcemia OMIM:603233
Niemann-Pick Disease, Type B
Sea-blue histiocytosis, Increased LDL cholesterol concentration, Hypertriglyceridemia, Splenomega... OMIM:607616
Malignant Hyperthermia, Susceptibility To, 2
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration OMIM:154275
Hypoparathyroidism, Familial Isolated, 1
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia OMIM:146200
Erythrocytosis, Familial, 1
Increased circulating hemoglobin concentration, Increased hematocrit, Splenomegaly, Increased red... OMIM:133100
Short Stature Due To Primary Acid-Labile Subunit Deficiency
Insulin resistance ORPHA:140941
Malignant Hyperthermia, Susceptibility To, 3
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration OMIM:154276
Hypertriglyceridemia 1
Hypertriglyceridemia, Increased VLDL cholesterol concentration OMIM:145750
Anemia, Congenital Dyserythropoietic, Type Iv
Increased RBC distribution width, Persistence of hemoglobin F, Hepatosplenomegaly, Hyperbilirubin... OMIM:613673
Hypocalcemia, Autosomal Dominant 1
Hyperphosphatemia, Hypomagnesemia, Hypocalcemia, Hypokalemia, Increased circulating renin level OMIM:601198
Malignant Hyperthermia, Susceptibility To, 1
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration OMIM:145600
Multiple Symmetric Lipomatosis
Insulin resistance ORPHA:2398
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hemophagocytosis, Increased circulating ferritin concentration, Splenomegaly, Neutropenia, Hypert... OMIM:603552
Spondyloepiphyseal Dysplasia, Nishimura Type
Hyperphosphatemia, Hypocalcemia OMIM:618618
Blue Diaper Syndrome
Hypercalcemia, Hyperphosphatemia ORPHA:94086
Coronary Artery Disease, Autosomal Dominant 2
Increased LDL cholesterol concentration, Hypertriglyceridemia OMIM:610947
Hepatic Lipase Deficiency
Increased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia OMIM:614025
Lipase Deficiency, Combined
Hypertriglyceridemia OMIM:246650
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hemophagocytosis, Increased circulating ferritin concentration, Hepatosplenomegaly, Splenomegaly,... OMIM:613101
Lipodystrophy, Familial Partial, Type 3
Insulin resistance, Insulin-resistant diabetes mellitus, Decreased HDL cholesterol concentration,... OMIM:604367
Hypophosphatemic Rickets, Autosomal Recessive, 1
Hypophosphatemia, Hypophosphatemic rickets OMIM:241520
Hypertriglyceridemia, Transient Infantile
Splenomegaly, Hypertriglyceridemia OMIM:614480
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive
Increased LDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating creatine kina... OMIM:616516
Protoporphyria, Erythropoietic, 1
Hemolytic anemia, Hypertriglyceridemia OMIM:177000
Erythrocytosis, Familial, 2
Increased circulating hemoglobin concentration, Increased hematocrit, Increased red blood cell mass OMIM:263400
Hyperlipidemia, Familial Combined, 3
Xanthelasma, Increased LDL cholesterol concentration, Hyperlipidemia, Increased VLDL cholesterol ... OMIM:144250
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency
Increased HDL cholesterol concentration, Hypertriglyceridemia ORPHA:140905
Lipodystrophy, Familial Partial, Type 6
Insulin resistance, Abnormal circulating lipid concentration, Hyperlipidemia, Elevated circulatin... OMIM:615980
Lipodystrophy, Familial Partial, Type 4
Insulin resistance, Insulin-resistant diabetes mellitus, Hypertriglyceridemia OMIM:613877
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Hemophagocytosis, Increased circulating ferritin concentration, Pancytopenia, Splenomegaly, Hyper... OMIM:618398
Body Mass Index Quantitative Trait Locus 19
Insulin resistance, Hyperinsulinemia, Hyperlipidemia, Hypertriglyceridemia OMIM:617885
Lipodystrophy, Congenital Generalized, Type 3
Insulin resistance, Hypocalcemia, Hypercholesterolemia, Hypertriglyceridemia, Diabetes mellitus OMIM:612526
Anemia, Hypochromic Microcytic, With Iron Overload 1
Increased circulating iron concentration, Erythroid hyperplasia, Hypochromia, Elevated hepatic ir... OMIM:206100
Hypocalcemia, Autosomal Dominant 2
Abnormal blood phosphate concentration, Hypocalcemia OMIM:615361
Hypobetalipoproteinemia, Familial, 1
Decreased HDL cholesterol concentration, Hypocholesterolemia, Acanthocytosis, Decreased LDL chole... OMIM:615558
Familial Partial Lipodystrophy, Köbberling Type
Insulin resistance, Hyperinsulinemia, Diabetes mellitus ORPHA:79084
Autoimmune Hypoparathyroidism
Hypocalcemic tetany, Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia ORPHA:36913
Glycogen Storage Disease Ixa1
Hypercholesterolemia, Splenomegaly, Hyperuricemia, Hypertriglyceridemia OMIM:306000
Tempi Syndrome
Increased hematocrit, Polycythemia ORPHA:284227
Lymphoproliferative Syndrome, X-Linked, 2
Aplastic anemia, Hemophagocytosis, Increased circulating ferritin concentration, Pancytopenia, Sp... OMIM:300635
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Increased circulating iron concentration, Reduced red cell pyruvate kinase level, Increased circu... ORPHA:766
Immunodeficiency 109 With Lymphoproliferation
Pancytopenia, Absent circulating B cells, Splenomegaly, Hypertriglyceridemia OMIM:620282
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Hypertriglyceridemia ORPHA:436182
Cortisone Reductase Deficiency 2
Insulin resistance OMIM:614662
Calciphylaxis
Hyperphosphatemia ORPHA:280062
Abdominal Obesity-Metabolic Syndrome 4
Elevated hemoglobin A1c, Increased LDL cholesterol concentration, Hypertriglyceridemia, Decreased... OMIM:618620
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hypertriglyceridemia OMIM:615924
Gaisböck Syndrome
Increased red blood cell count, Increased mean corpuscular hemoglobin concentration, Increased he... ORPHA:90041
Pseudohypoparathyroidism, Type Ic
Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemia OMIM:612462
Kenny-Caffey Syndrome, Type 2
Anemia, Hyperphosphatemia, Hypocalcemia, Transient hypophosphatemia OMIM:127000
Pseudohypoparathyroidism Type 1B
Hypocalcemic tetany, Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia ORPHA:94089
Cholesteryl Ester Storage Disease
Hypercholesterolemia, Splenomegaly, Hypertriglyceridemia ORPHA:75234
Apolipoprotein C-Ii Deficiency
Increased circulating chylomicron concentration, Splenomegaly, Hypercholesterolemia, Decreased ci... OMIM:207750
Refractory Celiac Disease
Hypoalbuminemia, Normocytic anemia, Hypomagnesemia, Microcytic anemia, Abnormal spleen physiology... ORPHA:398063
Lcat Deficiency
Hemolytic anemia, Hypertriglyceridemia, Decreased circulating apolipoprotein A-I concentration, D... ORPHA:650
Vitamin D-Dependent Rickets, Type 3
Hypophosphatemia, Hypocalcemia OMIM:619073
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Reduced natural killer cell count, Hemophagocytosis, Increased circulating ferritin concentration... ORPHA:158057
Genetic Recurrent Myoglobinuria
Hyperkalemia, Hyperphosphatemia, Hypocalcemia, Highly elevated creatine kinase ORPHA:99845
Obesity Due To Melanocortin 4 Receptor Deficiency
Hypertriglyceridemia ORPHA:71529
Hypercalcemia, Infantile, 2
Hypophosphatemia, Hypercalcemia OMIM:616963
Immunodeficiency 114, Folate-Responsive
Increased circulating ferritin concentration, Lymphopenia, Splenomegaly, Megaloblastic anemia, Th... OMIM:620603
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hypoalbuminemia, Hemophagocytosis, Increased circulating ferritin concentration, Increased total ... OMIM:267700
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia OMIM:241410
Hypophosphatemic Bone Disease
Hypophosphatemia OMIM:146350
Pseudohypoparathyroidism, Type Ia
Hypocalcemic tetany, Hyperphosphatemia OMIM:103580
Acquired Partial Lipodystrophy
Insulin resistance ORPHA:79087
Neuroleptic Malignant Syndrome
Hyperphosphatemia, Hypomagnesemia, Leukocytosis, Hypocalcemia, Hyperuricemia, Elevated circulatin... ORPHA:94093
Iron-Refractory Iron Deficiency Anemia
Poikilocytosis, Elevated circulating hepcidin concentration, Hypochromic microcytic anemia, Aniso... OMIM:206200
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Hypercalcemia, Hyperphosphatemia, Calcinosis OMIM:211900
Akt2-Related Familial Partial Lipodystrophy
Insulin resistance, Insulin-resistant diabetes mellitus, Hypertriglyceridemia ORPHA:79085
Diarrhea 7, Protein-Losing Enteropathy Type
Hypoalbuminemia, Hyperlipidemia, Hypercholesterolemia OMIM:615863
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Hypercalcemia, Hyperphosphatemia OMIM:617994
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To
Reduced erythrocyte adenosine triphosphate concentration, Stomatocytosis, Erythroid hyperplasia, ... OMIM:301083
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hypoalbuminemia, Hepatosplenomegaly, Microcytic anemia, Hypertriglyceridemia OMIM:619013
Nephrotic Syndrome, Type 2
Hypoalbuminemia, Hyperlipidemia OMIM:600995
Autosomal Dominant Hypophosphatemic Rickets
Hypophosphatemia, Hypocalcemia, Iron deficiency anemia ORPHA:89937
Hypophosphatemic Rickets, Autosomal Dominant
Hypophosphatemia, Hypophosphatemic rickets OMIM:193100
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Reduced natural killer cell count, Increased circulating ferritin concentration, Hypoplasia of th... OMIM:619313
Citrullinemia, Type Ii, Neonatal-Onset
Hypermethioninemia, Decreased HDL cholesterol concentration, Hyperbilirubinemia, Hyperthreoninemi... OMIM:605814
Insulin-Resistance Syndrome Type B
Postprandial hyperglycemia, Insulin resistance, Hypoalbuminemia, Hypotriglyceridemia, Glycosuria,... ORPHA:2298
Osteogenesis Imperfecta, Type Xxiii
Insulin resistance OMIM:620639
Paget Disease Of Bone 5, Juvenile-Onset
Hydroxyprolinemia, Hyperphosphatemia, Hyperuricemia OMIM:239000
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Insulin resistance, Insulin-resistant diabetes mellitus ORPHA:90301
Immunodeficiency 97 With Autoinflammation
Decreased proportion of CD4+CD25+ regulatory T cells, Reduced natural killer cell count, Hemophag... OMIM:619802
Macrophage Activation Syndrome
Hypoalbuminemia, Hemophagocytosis, Increased circulating ferritin concentration, Splenomegaly, An... ORPHA:158061
Sanjad-Sakati Syndrome
Hyperphosphatemia, Hypocalcemia ORPHA:2323
Focal Segmental Glomerulosclerosis 1
Hypoalbuminemia, Anemia, Hyperlipidemia OMIM:603278
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Increased LDL cholesterol concentration, Hyperbilirubinemia, Hyperthreoninemia, Hepatosplenomegal... ORPHA:247598
Severe Neurodegenerative Syndrome With Lipodystrophy
Insulin resistance, Hyperinsulinemia, Hypertriglyceridemia ORPHA:363400
Plin1-Related Familial Partial Lipodystrophy
Hypertriglyceridemia ORPHA:280356
Cholesteryl Ester Storage Disease
Increased LDL cholesterol concentration, Hepatosplenomegaly, Hypersplenism, Hypertriglyceridemia,... OMIM:278000
Malignant Hyperthermia Of Anesthesia
Hyperkalemia, Hyperphosphatemia, Elevated creatine kinase after exercise ORPHA:423
Tangier Disease
Splenomegaly, Hypertriglyceridemia, Elevated circulating apolipoprotein A-II concentration, Decre... OMIM:205400
Diabetes Mellitus, Transient Neonatal, 3
Hyperglycemia, Transient neonatal diabetes mellitus, Reduced C-peptide level, Maternal diabetes, ... OMIM:610582
Mandibuloacral Dysplasia
Insulin resistance, Increased circulating free fatty acid level, Insulin-resistant diabetes melli... ORPHA:2457
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hypoalbuminemia, Hemophagocytosis, Increased total bilirubin, Increased circulating ferritin conc... OMIM:603553
Pparg-Related Familial Partial Lipodystrophy
Insulin resistance, Insulin-resistant diabetes mellitus, Hyperuricemia, Maternal diabetes, Hypert... ORPHA:79083
Autosomal Dominant Kenny-Caffey Syndrome
Anemia, Hypocalcemic tetany, Hypocalcemic seizures, Hyperphosphatemia ORPHA:93325
Hyperlipoproteinemia, Type V
Increased circulating chylomicron concentration, Increased VLDL cholesterol concentration, Decrea... OMIM:144650
Citrullinemia, Type Ii, Adult-Onset
Elevated plasma citrulline, Hyperammonemia, Hyperargininemia, Hypertriglyceridemia OMIM:603471
Autosomal Dominant Hypocalcemia
Hyperphosphatemia, Hypocalcemia, Hypomagnesemia ORPHA:428
Dent Disease 2
Hypophosphatemia, Elevated circulating creatine kinase concentration OMIM:300555
Lipe-Related Familial Partial Lipodystrophy
Insulin resistance, Hypertriglyceridemia, Insulin-resistant diabetes mellitus, Elevated circulati... ORPHA:435660
Hyperlipoproteinemia, Type Id
Increased circulating chylomicron concentration, Decreased HDL cholesterol concentration, Splenom... OMIM:615947
Kennedy Disease
Type II diabetes mellitus, Abnormal circulating lipid concentration ORPHA:481
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Insulin resistance, Diabetes mellitus, Hypertriglyceridemia OMIM:615381
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2
Hypophosphatemia OMIM:612287
Lipodystrophy, Familial Partial, Type 1
Hypertriglyceridemia OMIM:608600
Congenital Generalized Lipodystrophy
Insulin resistance, Hyperinsulinemia, Hypercholesterolemia, Hypertriglyceridemia, Diabetes mellit... ORPHA:528
Lipodystrophy, Familial Partial, Type 5
Increased C-peptide level, Hypertriglyceridemia OMIM:615238
Fanconi Renotubular Syndrome 5
Hypophosphatemia, Hypophosphatemic rickets OMIM:618913
Hyperlipoproteinemia, Type I
Lactescent serum, Increased circulating chylomicron concentration, Hepatosplenomegaly, Hyperlipid... OMIM:238600
Seckel Syndrome 10
Insulin resistance, Glycosuria, Glucose intolerance, Hypertriglyceridemia, Elevated hemoglobin A1... OMIM:617253
Pseudohypoparathyroidism Type 1C
Hyperphosphatemia, Hypocalcemic tetany, Hypocalcemia, Calcinosis, Hypocalcemic seizures ORPHA:79444
Rh-Null, Amorph Type
Stomatocytosis, Hyperbilirubinemia, Reticulocytosis, Anisocytosis, Hemolytic anemia OMIM:617970
Lipodystrophy, Partial, Acquired, Susceptibility To
Diabetes mellitus, Abnormal circulating lipid concentration OMIM:608709
Acute Interstitial Pneumonia
Elevated circulating C-reactive protein concentration, Elevated circulating creatinine concentrat... ORPHA:79126
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1
Hypophosphatemia OMIM:612286
Acrodysostosis 1 With Or Without Hormone Resistance
Hyperphosphatemia OMIM:101800
Cholestasis-Lymphedema Syndrome
Hyperlipidemia, Splenomegaly, Conjugated hyperbilirubinemia OMIM:214900
Familial Isolated Hyperparathyroidism
Hypophosphatemia, Hypercalcemia ORPHA:99879
Hemorrhagic Fever-Renal Syndrome
Hyperphosphatemia, Elevated circulating creatinine concentration, Leukocytosis, Thrombocytopenia,... ORPHA:340
Placental Insufficiency
Insulin resistance ORPHA:439167
Elliptocytosis 2
Neonatal hyperbilirubinemia, Hemolytic anemia, Reticulocytosis, Elliptocytosis OMIM:130600
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Insulin resistance, Neonatal hyperbilirubinemia, Hypoglycemia ORPHA:73272
Acquired Generalized Lipodystrophy
Insulin resistance, Abnormal circulating lipid concentration, Insulin-resistant diabetes mellitus... ORPHA:79086
Familial Partial Lipodystrophy, Dunnigan Type
Insulin resistance, Diabetes mellitus, Hypertriglyceridemia ORPHA:2348
Hemophagocytic Syndrome Associated With An Infection
Hemophagocytosis, Increased circulating ferritin concentration, Pancytopenia, Abnormal T cell sub... ORPHA:158048
Pseudohypoparathyroidism Type 1A
Hyperphosphatemia, Hypocalcemic tetany, Hypocalcemia, Calcinosis, Hypocalcemic seizures ORPHA:79443
Familial Hemophagocytic Lymphohistiocytosis
Hypoalbuminemia, Hemophagocytosis, Increased circulating ferritin concentration, Splenomegaly, Ne... ORPHA:540
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypoalbuminemia, Hypercholesterolemia, Abnormal circulating lipid concentration, Hypertriglycerid... ORPHA:567548
Temple Syndrome
Hypercholesterolemia, Hypertriglyceridemia OMIM:616222
Cerebrooculofacioskeletal Syndrome 1
Insulin resistance OMIM:214150
Hypophosphatemic Rickets And Hyperparathyroidism
Hypophosphatemia, Hypophosphatemic rickets, Hypercalcemia OMIM:612089
Glycosylphosphatidylinositol Biosynthesis Defect 17
Hypertriglyceridemia OMIM:618010
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency
Steatorrhea, Increased circulating free fatty acid level, Hypophosphatemia OMIM:605911
Linear Verrucous Nevus Syndrome
Hypophosphatemia ORPHA:2611
Citrullinemia Type Ii
Hypoalbuminemia, Decreased HDL cholesterol concentration, Hyperlipidemia, Acute hyperammonemia, H... ORPHA:247585
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Hypophosphatemia OMIM:308990
Colchicine Poisoning
Hypomagnesemia, Leukocytosis, Hypocalcemia, Hypokalemia, Hyponatremia, Hypophosphatemia, Abnormal... ORPHA:31824
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency
Hyperlipidemia, Hyperuricemia ORPHA:364
Hyperparathyroidism, Neonatal Severe
Splenomegaly, Hypophosphatemia, Calcinosis, Anemia, Hypercalcemia OMIM:239200
Smith-Magenis Syndrome
Hypercholesterolemia, Hypertriglyceridemia OMIM:182290
Exercise-Induced Malignant Hyperthermia
Hyperphosphatemia, Hypocalcemia, Elevated circulating creatine kinase concentration, Thrombocytop... ORPHA:466650
Abdominal Obesity-Metabolic Syndrome 3
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:615812
Combined Oxidative Phosphorylation Deficiency 55
Hypomagnesemia, Hypophosphatemic rickets, Elevated circulating creatine kinase concentration, Hyp... OMIM:619743
Glycogen Storage Disease Ixc
Splenomegaly, Hypertriglyceridemia OMIM:613027
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Hypophosphatemia, Increased circulating beta-C-terminal telopeptide concentration, Hypophosphatem... ORPHA:157215
Hypomagnesemia 3, Renal
Increased circulating beta-C-terminal telopeptide concentration, Hyperphosphatemia, Hypomagnesemi... OMIM:248250
Ataxia With Vitamin E Deficiency
Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:277460
Uremic Pruritus
Renal hypophosphatemia, Hypermagnesemia, Hypercalcemia, Increased blood urea nitrogen ORPHA:94059
Mody
Glycosuria, Insulin-resistant diabetes mellitus, Hyperglycemia, Elevated hemoglobin A1c, Glucose ... ORPHA:552
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia ORPHA:209902
Dopamine Beta-Hydroxylase Deficiency
Insulin resistance, Hypoglycemia, Elevated circulating creatinine concentration, Hyperinsulinemia... ORPHA:230
Reni Syndrome
Hypoalbuminemia, Lymphopenia, Hypertriglyceridemia OMIM:617575
Proteasome-Associated Autoinflammatory Syndrome 3
Lymphopenia, Splenomegaly, Thrombocytopenia, Hypertriglyceridemia, Anemia OMIM:617591
Short Syndrome
Insulin resistance, Hyperglycemia, Glucose intolerance, Insulin-resistant diabetes mellitus OMIM:269880
Familial Multiple Lipomatosis
Insulin resistance, Hyperlipidemia ORPHA:199276
Fanconi Renotubular Syndrome 1
Hypokalemia, Hypophosphatemia OMIM:134600
Obesity Due To Congenital Leptin Deficiency
Decreased proportion of CD4-positive helper T cells, Hypertriglyceridemia ORPHA:66628
Obesity Due To Leptin Receptor Gene Deficiency
Decreased proportion of CD4-positive helper T cells, Hypertriglyceridemia ORPHA:179494
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Abnormal circulating calcium concentration, Hypophosphatemia, Hypophosphatemic rickets OMIM:241530
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Postprandial hyperglycemia, Insulin-resistant diabetes mellitus, Hypoglycemia, Hyperglycemia, Hyp... OMIM:262190
Dysbetalipoproteinemia
Xanthelasma, Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia,... ORPHA:412
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Hypophosphatemia, Hypocalcemia OMIM:600081
Rabson-Mendenhall Syndrome
Postprandial hyperglycemia, Insulin resistance, Insulin-resistant diabetes mellitus, Fasting hype... ORPHA:769
Griscelli Syndrome Type 2
Hemophagocytosis, Pancytopenia, Hyperlipidemia, Splenomegaly, Neutropenia ORPHA:79477
Hypophosphatemic Rickets, X-Linked Dominant
Abnormal circulating calcium concentration, Hepatosplenomegaly, Hypophosphatemia, Hypophosphatemi... OMIM:307800
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Hyperlipidemia, Mildly elevated creatine kinase OMIM:604484
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Hyperlipidemia,... OMIM:235400
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Splenomegaly, Elevated circulating creatine kinase concentration, Abnormal erythrocyte enzyme con... ORPHA:264580
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Increased LDL cholesterol concentration, Elevated circulating creatine kinase concentration, Hype... ORPHA:98855
Cystinosis
Hypokalemia, Hypophosphatemia ORPHA:213
Glycogen Storage Disease Iii
Hyperlipidemia, Elevated circulating creatine kinase concentration OMIM:232400
Short Stature, Microcephaly, And Endocrine Dysfunction
Insulin resistance, Diabetes mellitus, Abnormal circulating lipid concentration OMIM:616541
Diarrhea 10, Protein-Losing Enteropathy Type
Hypoalbuminemia, Hypomagnesemia, Hypocalcemia, Hyponatremia, Hypertriglyceridemia OMIM:618183
Cidec-Related Familial Partial Lipodystrophy
Hypertriglyceridemia ORPHA:435651
Lysinuric Protein Intolerance
Hemophagocytosis, Increased circulating ferritin concentration, Decreased HDL cholesterol concent... ORPHA:470
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Splenomegaly, Elevated circulating creatine kinase concentration, Hypercholesterolemia, Hypertrig... ORPHA:79240
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hypouricemia, Hypophosphatemia OMIM:616026
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Hypocalcemic seizures, Hypophosphatemia, Hypocalcemia OMIM:264700
Hypocalcemic Vitamin D-Dependent Rickets
Hypochromic anemia, Leukocytosis, Hypocalcemia, Splenomegaly, Hypophosphatemia, Hypocalcemic seiz... ORPHA:289157
Lipodystrophy, Congenital Generalized, Type 4
Insulin resistance, Hyperinsulinemia, Elevated circulating creatine kinase concentration, Hypertr... OMIM:613327
Short Syndrome
Insulin resistance, Diabetes mellitus ORPHA:3163
Chédiak-Higashi Syndrome
Abnormality of neutrophil physiology, Hemophagocytosis, Abnormal natural killer cell morphology, ... ORPHA:167
Smith-Magenis Syndrome
Hypercholesterolemia, Hypertriglyceridemia ORPHA:819
X-Linked Emery-Dreifuss Muscular Dystrophy
Increased LDL cholesterol concentration, Elevated circulating creatine kinase concentration, Hype... ORPHA:98863
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Increased LDL cholesterol concentration, Elevated circulating creatine kinase concentration, Hype... ORPHA:98853
Emery-Dreifuss Muscular Dystrophy
Increased LDL cholesterol concentration, Elevated circulating creatine kinase concentration, Hype... ORPHA:261
Tangier Disease
Hypocholesterolemia, Hepatosplenomegaly, Thrombocytopenia, Hypertriglyceridemia, Anemia ORPHA:31150
Fanconi-Bickel Syndrome
Hypophosphatemia, Hypertriglyceridemia ORPHA:2088
Griscelli Syndrome Type 1
Hyperlipidemia ORPHA:79476
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypermagnesemia, Hypophosphatemia, Hypercalcemia OMIM:600740
Lysosomal Acid Lipase Deficiency
Xanthelasma, Hepatosplenomegaly, Hypersplenism, Bone-marrow foam cells, Hyponatremia, Anemia, Hyp... ORPHA:275761
Fanconi-Bickel Syndrome
Hypouricemia, Hyperbilirubinemia, Increased serum bile acid concentration, Hypokalemia, Hypophosp... OMIM:227810
Werner Syndrome
Elevated hemoglobin A1c, Hypertriglyceridemia OMIM:277700
Mandibuloacral Dysplasia With Type B Lipodystrophy
Insulin resistance, Hyperlipidemia, Calcinosis ORPHA:90154
Hypocalcemic Vitamin D-Resistant Rickets
Hypophosphatemia, Hypocalcemia ORPHA:93160
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Insulin resistance, Diabetes mellitus, Decreased HDL cholesterol concentration, Hypertriglyceridemia ORPHA:280365
Fanconi Renotubular Syndrome 2
Hypophosphatemia OMIM:613388
Monosomy 13Q34
Insulin resistance, Hypercalcemia ORPHA:96168
Familial Chylomicronemia Syndrome
Hepatosplenomegaly, Hyperlipidemia, Increased circulating chylomicron concentration, Hypertriglyc... ORPHA:444490
Vitamin D-Dependent Rickets, Type 2A
Hypocalcemic seizures, Hypophosphatemia OMIM:277440
Alopecia Universalis
Type I diabetes mellitus, Abnormal circulating lipid concentration ORPHA:701
Neutral Lipid Storage Disease With Ichthyosis
Abnormal circulating creatine kinase concentration, Abnormal granulocyte morphology, Hypertriglyc... ORPHA:98907
Hypophosphatemic Rickets, X-Linked Recessive
Hypophosphatemia, Hypophosphatemic rickets OMIM:300554
Werner Syndrome
Insulin resistance, Type II diabetes mellitus ORPHA:902
Whipple Disease
Insulin resistance, Hyponatremia ORPHA:3452
Stiff Skin Syndrome
Type II diabetes mellitus, Abnormal circulating lipid concentration ORPHA:2833
Silver-Russell Syndrome
Insulin resistance, Recurrent hypoglycemia ORPHA:813
Oncogenic Osteomalacia
Hypophosphatemia, Hypocalcemia ORPHA:352540
Mandibuloacral Dysplasia With Type A Lipodystrophy
Insulin resistance, Hyperlipidemia ORPHA:90153
Metaphyseal Chondrodysplasia, Jansen Type
Hypophosphatemia, Hypercalcemia OMIM:156400
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Hypercholesterolemia, Hypertriglyceridemia OMIM:610644
Marbach-Rustad Progeroid Syndrome
Insulin resistance OMIM:619322
Neurotrophic Keratopathy
Diabetes mellitus, Allodynia ORPHA:137596
Thalidomide Embryopathy
Insulin resistance ORPHA:3312
Xp21 Deletion Syndrome
Elevated circulating creatine kinase concentration, Hypertriglyceridemia ORPHA:261476
Juvenile Nephropathic Cystinosis
Hypouricemia, Elevated circulating creatinine concentration, Hypocalcemic tetany, Hypocalcemia, H... ORPHA:411634
Pearson Syndrome
Hypomagnesemia, Pancytopenia, Hypocalcemia, Reticulocytosis, Splenomegaly, Hypokalemia, Anemia, H... ORPHA:699
Aromatase Deficiency
Insulin resistance, Hyperlipidemia, Type II diabetes mellitus ORPHA:91
Hereditary Fructose Intolerance
Hypermagnesemia, Hypophosphatemia, Hyperuricemia ORPHA:469
H Syndrome
Microcytic anemia, Hepatosplenomegaly, Histiocytosis, Hypertriglyceridemia ORPHA:168569
Immunodeficiency 87 And Autoimmunity
Lymphopenia, Decreased CD4:CD8 ratio, Autoimmune hemolytic anemia, Decreased proportion of CD4-po... OMIM:619573
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Hyperlipidemia ORPHA:369
Alport Syndrome 3A, Autosomal Dominant
Hypophosphatemia, Azotemia OMIM:104200
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Xanthelasma, Hyperlipidemia, Hyperuricemia, Hypercholesterolemia, Hypertriglyceridemia, Anemia, A... ORPHA:79259
Gitelman Syndrome
Insulin resistance, Hypermagnesemia, Type I diabetes mellitus, Hypomagnesemia, Glucose intoleranc... ORPHA:358
Mccune-Albright Syndrome
Pancytopenia, Primary hypercortisolism, Hypophosphatemia, Increased circulating cortisol level ORPHA:562
Microtriplication 11Q24.1
Hyperlipidemia ORPHA:289522
Dent Disease 1
Hypophosphatemia OMIM:300009
Nephrotic Syndrome, Type 1
Hypoalbuminemia, Hyperlipidemia, Hypoproteinemia OMIM:256300
Familial Hypocalciuric Hypercalcemia
Renal hypophosphatemia, Hypermagnesemia, Hypocalcemic seizures, Hypercalcemia ORPHA:405
Neutral Lipid Storage Disease With Myopathy
Elevated circulating creatine kinase concentration, Splenomegaly, Hypertriglyceridemia OMIM:610717
Primary Fanconi Renotubular Syndrome
Hypouricemia, Decreased circulating carnitine concentration, Hypophosphatemic rickets, Hypokalemi... ORPHA:3337
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Accessory spleen, Polysplenia, Splenomegaly, Hypertriglyceridemia, Anemia OMIM:619418
Chronic Visceral Acid Sphingomyelinase Deficiency
Abnormal circulating lipid concentration, Increased LDL cholesterol concentration, Hypersplenism,... ORPHA:77293
Congenital Analbuminemia
Hypoalbuminemia, Hyperlipidemia, Hypercholesterolemia, Hypoproteinemia, Increased alpha-globulin ORPHA:86816
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Hyperlipidemia ORPHA:2089
Cholestasis-Lymphedema Syndrome
Hyperlipidemia, Splenomegaly ORPHA:1414
Infantile Nephropathic Cystinosis
Hypokalemia, Abnormal blood ion concentration, Hypophosphatemia ORPHA:411629
Prader-Willi Syndrome
Hypercholesterolemia, Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:176270
Bardet-Biedl Syndrome 1
Insulin resistance, Diabetes mellitus OMIM:209900
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
Insulin resistance, Fasting hypoglycemia ORPHA:96182
Lipodystrophy, Familial Partial, Type 2
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:151660
Thyrotoxic Periodic Paralysis
Episodic hypokalemia, Hypomagnesemia, Transient hypophosphatemia, Hyperkalemia, Mildly elevated c... ORPHA:79102
Fibrous Dysplasia Of Bone
Hypophosphatemia, Hypercalcemia, Increased circulating cortisol level ORPHA:249
Opsismodysplasia
Hypophosphatemia OMIM:258480
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Hypercalcemia, Hypertriglyceridemia ORPHA:369837
Alstrom Syndrome
Elevated hemoglobin A1c, Decreased HDL cholesterol concentration, Hyperuricemia, Hypertriglycerid... OMIM:203800
Lipodystrophy, Familial Partial, Type 7
Insulin resistance, Type I diabetes mellitus, Glucose intolerance, Hypercholesterolemia, Hypertri... OMIM:606721
Leprechaunism
Postprandial hyperglycemia, Insulin resistance, Hyperinsulinemia, Recurrent infantile hypoglycemi... ORPHA:508
Cystinosis, Nephropathic
Decreased circulating carnitine concentration, Hypomagnesemia, Hypophosphatemic rickets, Splenome... OMIM:219800
Bloom Syndrome
Insulin resistance, Diabetes mellitus ORPHA:125
Methanol Poisoning
Hyperlipidemia ORPHA:31825
Oculocerebrorenal Syndrome Of Lowe
Hyperaldosteronism, Hyponatremia, Hypokalemia, Hypophosphatemia, Hypercholesterolemia, Hypoammone... ORPHA:534
Tubulointerstitial Nephritis And Uveitis Syndrome
Normocytic anemia, Elevated circulating creatinine concentration, Reduced hematocrit, Elevated ci... ORPHA:91500
Lmna-Related Cardiocutaneous Progeria Syndrome
Hypercholesterolemia, Hypertriglyceridemia ORPHA:363618
Complex Regional Pain Syndrome
Allodynia ORPHA:83452
Autosomal Recessive Malignant Osteopetrosis
Anemia, Splenomegaly, Hypophosphatemia, Hypocalcemia ORPHA:667
Classical-Like Ehlers-Danlos Syndrome Type 2
Hypertriglyceridemia ORPHA:536532
Raine Syndrome
Hypophosphatemia OMIM:259775
Schimke Immuno-Osseous Dysplasia
Abnormal proportion of naive CD4 T cells, Lymphopenia, Hyperlipidemia, Decreased proportion of na... ORPHA:1830
Fructose Intolerance, Hereditary
Hypophosphatemia, Hyperbilirubinemia, Hyperuricemia, Bicarbonaturia OMIM:229600
Combined Deficiency Of Factor V And Factor Viii
Hyperlipidemia, Hyperuricemia ORPHA:35909
Spinal Cord Injury
Hypercalcemia, Allodynia ORPHA:90058
Trigeminal Neuralgia
Allodynia ORPHA:221091
Proteasome-Associated Autoinflammatory Syndrome 1
Microcytic anemia, Splenomegaly, Hypertriglyceridemia, Thrombocytopenia, Decreased HDL cholestero... OMIM:256040
Neutral Lipid Storage Myopathy
Abnormal circulating creatine kinase concentration, Hypertriglyceridemia ORPHA:98908
Steinert Myotonic Dystrophy
Insulin resistance, Hyperinsulinemia, Diabetes mellitus, Hypercholesterolemia ORPHA:273
Lipodystrophy, Congenital Generalized, Type 2
Elevated hemoglobin A1c, Splenomegaly, Hypertriglyceridemia OMIM:269700
Glycerol Kinase Deficiency
Hyperglycerolemia, Hypertriglyceridemia OMIM:307030
Hyperparathyroidism-Jaw Tumor Syndrome
Hypophosphatemia, Hypercalcemia ORPHA:99880
Bardet-Biedl Syndrome
Insulin resistance, Decreased HDL cholesterol concentration, Impaired fasting glucose, Type II di... ORPHA:110
Parathyroid Carcinoma
Hypophosphatemia, Hypercalcemia ORPHA:143
Apolipoprotein A-I Deficiency
Abnormal circulating lipid concentration, Decreased HDL cholesterol concentration ORPHA:425
Dent Disease
Renal hypophosphatemia, Elevated circulating creatine kinase concentration ORPHA:1652
Mandibuloacral Dysplasia Progeroid Syndrome
Elevated hemoglobin A1c, Hypertriglyceridemia OMIM:619127
Pudendal Neuralgia
Allodynia ORPHA:60039
Carnitine Palmitoyltransferase Ii Deficiency
Elevated circulating acylcarnitine concentration, Decreased plasma free carnitine, Hyperlipidemia... ORPHA:157
19P13.12 Microdeletion Syndrome
Hyperlipidemia ORPHA:254346
Anterior Cutaneous Nerve Entrapment Syndrome
Allodynia ORPHA:51890
Lipodystrophy, Congenital Generalized, Type 1
Splenomegaly, Hypertriglyceridemia OMIM:608594
Autosomal Recessive Hypophosphatemic Rickets
Renal hypophosphatemia, Hypophosphatemic rickets ORPHA:289176
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Elevated circulating acylcarnitine concentration, Decreased plasma free carnitine, Hyperlipidemia... ORPHA:228308
Alagille Syndrome 1
Hypercholesterolemia, Hypertriglyceridemia OMIM:118450
Parenteral Nutrition-Associated Cholestasis
Hyperlipidemia, Conjugated hyperbilirubinemia, Splenomegaly, Abnormal circulating fatty-acid conc... ORPHA:567983
Aapoaiv Amyloidosis
Elevated circulating creatinine concentration, Hyperlipidemia ORPHA:439232
X-Linked Hypophosphatemia
Hypophosphatemia ORPHA:89936
Glycogen Storage Disease Ib
Xanthelasma, Hyperlipidemia, Splenomegaly, Hyperuricemia, Neutropenia OMIM:232220
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Hyperaldosteronism, Paradoxical increased cortisol secretion on dexamethasone suppression test, H... ORPHA:189427
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Elevated circulating deoxyuridine concentration, Elevated circulating thymidine concentration, Al... OMIM:603041
Mandibuloacral Dysplasia With Type B Lipodystrophy
Hyperlipidemia OMIM:608612
Wiedemann-Rautenstrauch Syndrome
Hypoplasia of the thymus, Hypertriglyceridemia OMIM:264090
Glycogen Storage Disease Ia
Xanthelasma, Hyperlipidemia, Hyperuricemia OMIM:232200
Atypical Werner Syndrome
Hypertriglyceridemia ORPHA:79474
Hutchinson-Gilford Progeria Syndrome
Insulin resistance ORPHA:740
Benign Schwannoma
Allodynia ORPHA:252164
Glycogen Storage Disease Ic
Cyclic neutropenia, Xanthelasma, Hyperlipidemia, Hyperuricemia OMIM:232240
Primary Triglyceride Deposit Cardiomyovasculopathy
Vacuolated lymphocytes, Hyperlipidemia, Splenomegaly, Elevated circulating creatine kinase concen... ORPHA:565612
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Hypoalbuminemia, Hyperlipidemia ORPHA:567546
Mandibuloacral Dysplasia With Type A Lipodystrophy
Hyperlipidemia, Hypercholesterolemia, Calcinosis OMIM:248370
Wiedemann-Rautenstrauch Syndrome
Hypertriglyceridemia ORPHA:3455
Fabry Disease
Anemia, Hyperlipidemia, Abnormal circulating lipid concentration ORPHA:324
Pmm2-Cdg
Insulin resistance, Reduced thyroxin-binding globulin, Hyperinsulinemia, Hypoalbuminemia ORPHA:79318
Alström Syndrome
Insulin resistance, Hyperinsulinemia, Type II diabetes mellitus, Hyperlipidemia, Hypertriglycerid... 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
Hyperlipidemia, Increased LDL cholesterol concentration, Hypercholesterolemia ORPHA:391665

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Pm20d1

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 Pm20d1.

No publications found that use IMPC mice or data for Pm20d1.

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
Pm20d1tm2e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Pm20d1em2(IMPC)H Exon Deletion Mice
Pm20d1tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Pm20d1em1(IMPC)H Exon Deletion Mice
Pm20d1tm2a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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