Gene Summary

Name:
ubiquitin specific peptidase 33
Synonyms:
9830169D19Rik,  Vdu1

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 bilirubin level Usp33tm1a(EUCOMM)Wtsi HOM Early adult 1.84×10-05
decreased body weight Usp33tm1a(EUCOMM)Wtsi HOM   Early adult 2.12×10-05
increased circulating aspartate transaminase level Usp33tm1a(EUCOMM)Wtsi HOM Early adult 1.16×10-07
decreased body length Usp33tm1a(EUCOMM)Wtsi HOM Early adult 7.66×10-05
increased circulating cholesterol level Usp33tm1a(EUCOMM)Wtsi HOM Early adult 2.36×10-07
decreased lean body mass Usp33tm1a(EUCOMM)Wtsi HOM   Early adult 1.58×10-05
thrombocytosis Usp33tm1a(EUCOMM)Wtsi HOM   Early adult 6.49×10-05
increased circulating alanine transaminase level Usp33tm1a(EUCOMM)Wtsi HOM Early adult 9.50×10-09
increased circulating LDL cholesterol level Usp33tm1a(EUCOMM)Wtsi HOM Early adult 9.66×10-09
increased circulating HDL cholesterol level Usp33tm1a(EUCOMM)Wtsi HOM   Early adult 6.14×10-07

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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.

Legacy Phenotype Associated Images

View all 75 images

Human diseases caused by Usp33 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 Usp33 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Cholesterol-Ester Transfer Protein Deficiency
Hypotriglyceridemia, Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemi... ORPHA:79506
Hypertriglyceridemia 2
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia OMIM:619324
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Glycogen Storage Disease Vi
Hypertriglyceridemia, Failure to thrive in infancy, Hypercholesterolemia, Hyperlipidemia OMIM:232700
Immunodeficiency 69
Anemia, Hemophagocytosis, Thrombocytosis, Pancytopenia, Leukocytosis, Failure to thrive, Hepatosp... OMIM:618963
Sitosterolemia 2
Elevated circulating sitosterol concentration, Hypercholesterolemia OMIM:618666
Thyroid Hormone Metabolism, Abnormal, 2
Hypercholesterolemia OMIM:619855
Glutathione Peroxidase Deficiency
Compensated hemolytic anemia, Neonatal hyperbilirubinemia, Heinz bodies OMIM:614164
Coronary Artery Disease, Autosomal Dominant, 1
Obesity, Hypercholesterolemia OMIM:608320
Cholestasis, Progressive Familial Intrahepatic, 10
Increased serum bile acid concentration, Increased total bilirubin, Failure to thrive, Splenomega... OMIM:619868
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Hyperbilirubinemia, Fava bean-induced hemolytic anemia, Reduced erythrocyte glutathione reductase... OMIM:618660
Edinburgh Malformation Syndrome
Failure to thrive, Neonatal hyperbilirubinemia OMIM:129850
Diarrhea 7, Protein-Losing Enteropathy Type
Hypoalbuminemia, Hypercholesterolemia, Hyperlipidemia, Failure to thrive OMIM:615863
Malaria
Hyperbilirubinemia, Thrombocytopenia, Anemia, Elevated circulating C-reactive protein concentration ORPHA:673
Crigler-Najjar Syndrome Type 2
Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia ORPHA:79235
Pentosuria
Abnormal circulating carbohydrate concentration, Abnormal circulating enzyme concentration ORPHA:2843
Hyperbilirubinemia, Shunt, Primary
Hyperbilirubinemia, Anemia of inadequate production, Reticulocytosis, Splenomegaly, Erythroid hyp... OMIM:237800
Red Cell Phospholipid Defect With Hemolysis
Hyperbilirubinemia, Splenomegaly, Reticulocytosis OMIM:179700
Hyperlipoproteinemia, Type Ii, And Deafness
Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:144300
Hypercholesterolemia, Familial, 4
Hypertriglyceridemia, Decreased LDL cholesterol concentration, Hypercholesterolemia OMIM:603813
Dehydrated Hereditary Stomatocytosis 2
Anisopoikilocytosis, Increased mean corpuscular hemoglobin concentration, Increased mean corpuscu... OMIM:616689
Congenital Disorder Of Glycosylation, Type Iip
Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi... OMIM:616829
Hypercholanemia, Familial, 2
Increased serum bile acid concentration, Unconjugated hyperbilirubinemia OMIM:619256
Morbid Obesity And Spermatogenic Failure
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentr... OMIM:615703
Hyperbilirubinemia, Transient Familial Neonatal
Neonatal unconjugated hyperbilirubinemia OMIM:237900
Jaundice, Familial Obstructive, Of Infancy
Neonatal hyperbilirubinemia OMIM:308600
Hyperbilirubinemia, Conjugated, Type Iii
Conjugated hyperbilirubinemia OMIM:237550
Hyperlipidemia, Familial Combined, 3
Xanthelasma, Increased LDL cholesterol concentration, Hyperlipidemia, Increased VLDL cholesterol ... OMIM:144250
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Chronic hemolytic anemia, Anemia, Reduced red cell pyruvate kinase level, Unconjugated hyperbilir... ORPHA:766
Cholestasis, Progressive Familial Intrahepatic, 11
Abnormal circulating bilirubin concentration, Increased serum bile acid concentration OMIM:619874
Crigler-Najjar Syndrome, Type Ii
Unconjugated hyperbilirubinemia OMIM:606785
Hyperbilirubinemia, Rotor Type
Conjugated hyperbilirubinemia OMIM:237450
Cholestasis, Progressive Familial Intrahepatic, 12
Hyperbilirubinemia, Splenomegaly, Increased serum bile acid concentration, Conjugated hyperbiliru... OMIM:620010
Dubin-Johnson Syndrome
Conjugated hyperbilirubinemia OMIM:237500
Immunodeficiency 27A
Anemia, Leukocytosis, Hepatosplenomegaly, Splenomegaly, Weight loss, Hypoalbuminemia, Thrombocyto... OMIM:209950
Rotor Syndrome
Hyperbilirubinemia, Conjugated hyperbilirubinemia ORPHA:3111
Crigler-Najjar Syndrome, Type I
Unconjugated hyperbilirubinemia OMIM:218800
Citrullinemia, Type Ii, Neonatal-Onset
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Elevated plasma citrulline, Increa... OMIM:605814
Hypothyroidism, Congenital, Nongoitrous, 8
Hypercholesterolemia OMIM:301033
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Elevated circulating C-reactive protein concentration, Pancytopenia, Hepatosplenomegaly, Thromboc... OMIM:604416
Crigler-Najjar Syndrome Type 1
Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia ORPHA:79234
Distal Myopathy, Tateyama Type
Abnormal circulating creatine kinase concentration, Hypercholesterolemia ORPHA:488650
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To
Hyperbilirubinemia, Reduced erythrocyte adenosine triphosphate concentration, Reticulocytosis, Er... OMIM:301083
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Macrocytic anemia, Pancytopenia, Hyperhomocystinemia, Hypersegmentation of neutrophil nuclei, Meg... OMIM:617780
Megaloblastic Anemia, Folate-Responsive
Hypersegmentation of neutrophil nuclei, Folate-responsive megaloblastic anemia, Hyperbilirubinemi... OMIM:601775
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Decreased HDL cholesterol concentration, Hypocholesterolemia, Decreased circulating apolipoprotei... OMIM:620058
Analbuminemia
Hypoalbuminemia, Increased LDL cholesterol concentration, Elevated circulating transferrin concen... OMIM:616000
Hepatic Veno-Occlusive Disease
Increased total bilirubin, Increased body weight ORPHA:890
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypoalbuminemia, Hypercholesterolemia ORPHA:94124
Anemia, Congenital Dyserythropoietic, Type Iv
Reduced hematocrit, Reduced haptoglobin level, Anemia, Hyperbilirubinemia, Anemia of inadequate p... OMIM:613673
Hyperinsulinemic Hypoglycemia, Familial, 8
Hyperammonemia, Increased C-peptide level, Hypercholesterolemia OMIM:620211
Congenital Disorder Of Glycosylation, Type Iio
Decreased circulating ceruloplasmin concentration, Increased LDL cholesterol concentration, Eleva... OMIM:616828
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypoalbuminemia, Hypercholesterolemia OMIM:607250
Gilbert Syndrome
Unconjugated hyperbilirubinemia OMIM:143500
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Anemia, Thrombocytosis, Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monoc... OMIM:202700
Spherocytosis, Type 4
Hyperbilirubinemia, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia OMIM:612653
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome
Small for gestational age, Neonatal hyperbilirubinemia ORPHA:3363
Rh-Null, Amorph Type
Hyperbilirubinemia, Reticulocytosis, Anisocytosis, Stomatocytosis, Hemolytic anemia OMIM:617970
Thrombocythemia 1
Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Imp... OMIM:187950
Spherocytosis, Type 2
Hyperbilirubinemia, Spherocytosis, Reticulocytosis, Splenomegaly, Acanthocytosis, Hemolytic anemia OMIM:616649
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Acute myeloid leukemia, Normochromic anemia, Pancytopenia, Anemia of inadequat... ORPHA:75564
Hepatic Lipase Deficiency
Hypertriglyceridemia, Increased HDL cholesterol concentration, Hypercholesterolemia OMIM:614025
Anemia, Congenital Dyserythropoietic, Type Ia
Hyperbilirubinemia, Macrocytic dyserythropoietic anemia, Anemia of inadequate production, Bite ce... OMIM:224120
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypertriglyceridemia, Abnormal circulating lipid concentration, Decreased HDL cholesterol concent... ORPHA:247598
Glycogen Storage Disease Ixa1
Hypertriglyceridemia, Hypercholesterolemia, Splenomegaly, Hyperuricemia OMIM:306000
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Normochromic anemia, Hyperbilirubinemia, Nonspherocytic hemolytic anemia, Reti... OMIM:235700
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Hypertriglyceridemia, Anemia, Acute myeloid leukemia, Elevated circulating C-reactive protein con... ORPHA:158057
Sitosterolemia 1
Xanthelasma, Elevated circulating sitosterol concentration, Reduced haptoglobin level, Chronic he... OMIM:210250
Harderoporphyria
Reticulocytosis, Splenomegaly, Neonatal hyperbilirubinemia, Increased circulating ferritin concen... OMIM:618892
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Anemia, Hypochromia, Elevated hepatic iron concentration, Anisocytosis, Hepatosplenomegaly, Splen... OMIM:616860
Thrombocythemia 2
Thrombocytosis OMIM:601977
Thrombocythemia 3
Thrombocytosis OMIM:614521
Dehydrated Hereditary Stomatocytosis
Macrocytic anemia, Increased mean corpuscular hemoglobin concentration, Increased mean corpuscula... ORPHA:3202
Spherocytosis, Type 1
Hyperbilirubinemia, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia OMIM:182900
Ataxia-Oculomotor Apraxia 4
Hypoalbuminemia, Obesity, Hypercholesterolemia, Elevated circulating alpha-fetoprotein concentration OMIM:616267
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To
Hyperbilirubinemia, Hemolytic anemia, Reticulocytosis OMIM:266120
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Anemia, Hemophagocytosis, Increase... OMIM:267700
Cholestasis-Lymphedema Syndrome
Hyperlipidemia, Splenomegaly, Conjugated hyperbilirubinemia OMIM:214900
Heme Oxygenase 1 Deficiency
Thrombocytosis, Elevated circulating C-reactive protein concentration, Asplenia, Coombs-positive ... OMIM:614034
Bile Acid Synthesis Defect, Congenital, 5
Increased total iron binding capacity, Iron deficiency anemia, Increased serum bile acid concentr... OMIM:616278
Cholesteryl Ester Storage Disease
Hypertriglyceridemia, Hypercholesterolemia, Splenomegaly ORPHA:75234
Hypermethioninemia Due To Adenosine Kinase Deficiency
Elevated circulating S-adenosyl-L-homocysteine concentration, Hyperbilirubinemia, Hypermethionine... OMIM:614300
Lipodystrophy, Congenital Generalized, Type 3
Hypertriglyceridemia, Hypocalcemia, Hepatosplenomegaly, Splenomegaly, Hypercholesterolemia OMIM:612526
Elliptocytosis 2
Hemolytic anemia, Elliptocytosis, Neonatal hyperbilirubinemia, Reticulocytosis OMIM:130600
Polycythemia Vera
Increased red blood cell mass, Leukocytosis, Increased circulating hemoglobin concentration, Thro... OMIM:263300
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Erythroid hypoplasia, Acute myeloid leukemia, Macrocytic anemia, Abnormal neutrophil morphology, ... ORPHA:86841
Bile Acid Synthesis Defect, Congenital, 2
Hyperbilirubinemia, Steatorrhea, Failure to thrive, Splenomegaly OMIM:235555
Galactokinase Deficiency
Increased level of galactitol in plasma, Hypergalactosemia, Failure to thrive, Hepatosplenomegaly... ORPHA:79237
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Increased total bilirubin OMIM:174050
Juvenile Arthritis
Thrombocytosis, Leukocytosis OMIM:618795
Hypercholesterolemia, Familial, 3
Xanthelasma, Hypercholesterolemia, Abnormal LDL cholesterol concentration OMIM:603776
Apolipoprotein C-Ii Deficiency
Hypertriglyceridemia, Increased circulating chylomicron concentration, Decreased circulating apol... OMIM:207750
Pyruvate Kinase Deficiency Of Red Cells
Chronic hemolytic anemia, Reduced haptoglobin level, Reduced red cell pyruvate kinase level, Reti... OMIM:266200
Congenital Analbuminemia
Hypoproteinemia, Hyperlipidemia, Obesity, Hypoalbuminemia, Increased alpha-globulin, Hypercholest... ORPHA:86816
Isolated Polycystic Liver Disease
Increased total bilirubin ORPHA:2924
Sickle Cell Anemia
Chronic hemolytic anemia, Iron deficiency anemia, Increased mean corpuscular volume, Splenic infa... ORPHA:232
Asplenia, Isolated Congenital
Howell-Jolly bodies, Thrombocytosis, Asplenia OMIM:271400
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Obesity, Hypercholesterolemia ORPHA:254531
Cog4-Cdg
Failure to thrive in infancy, Thrombocytopenia, Hypercholesterolemia, Hepatosplenomegaly ORPHA:263501
Glycogen Storage Disease Vii
Hyperuricemia, Elevated circulating creatine kinase concentration, Reticulocytosis, Increased tot... OMIM:232800
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Fava bean-induced hemolytic anemia, Leukocytosis, Reticulocytosis, Unconjugated hyperbilirubinemi... OMIM:300908
Primary Myelofibrosis
Anemia, Thrombocytosis, Pancytopenia, Cachexia, Leukocytosis, Poikilocytosis, Hepatosplenomegaly,... ORPHA:824
Congenital Dyserythropoietic Anemia Type Iii
Increased total iron binding capacity, Anemia, Increased mean corpuscular volume, Hyperbilirubine... ORPHA:98870
Hypercholesterolemia, Familial, 2
Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:144010
Infantile Sialic Acid Storage Disease
Failure to thrive, Vacuolated lymphocytes, Splenomegaly, Conjugated hyperbilirubinemia OMIM:269920
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Decreased hemoglobin concentration, Hyperbilirubinemia, Hemolytic anemia, Reticulocytosis ORPHA:713
Bile Acid Synthesis Defect, Congenital, 1
Steatorrhea, Failure to thrive, Splenomegaly, Conjugated hyperbilirubinemia, Hypocholesterolemia OMIM:607765
Temple Syndrome
Hypertriglyceridemia, Truncal obesity, Obesity, Overweight, Hypercholesterolemia, Small for gesta... OMIM:616222
Chylomicron Retention Disease
Steatorrhea, Hypotriglyceridemia, Failure to thrive, Decreased LDL cholesterol concentration, Hyp... OMIM:246700
Cholestasis, Progressive Familial Intrahepatic, 6
Failure to thrive, Conjugated hyperbilirubinemia OMIM:619484
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Anemia, Iron deficiency anemia, Hypoproteinemia, Hypoalbuminemia, Thrombocytosis OMIM:226300
Immunodeficiency 14B, Autosomal Recessive
Monocytosis, B lymphocytopenia, Leukocytosis, Neutrophilia, Thrombocytosis OMIM:619281
Overhydrated Hereditary Stomatocytosis
Increased mean corpuscular volume, Hyperbilirubinemia, Reticulocytosis, Splenomegaly, Stomatocyto... OMIM:185000
Essential Thrombocythemia
Acute leukemia, Thrombocytosis, Leukocytosis, Abnormal platelet morphology, Splenomegaly, Abnorma... ORPHA:3318
Sting-Associated Vasculopathy, Infantile-Onset
Anemia, Elevated circulating C-reactive protein concentration, Failure to thrive, Leukopenia, Lym... OMIM:615934
Rh Deficiency Syndrome
Reduced haptoglobin level, Macrocytic anemia, Hyperbilirubinemia, Hypochromia, Spherocytosis, Ret... ORPHA:71275
Lipoyltransferase 1 Deficiency
Increased total bilirubin, Hyperglutaminemia, Hyperprolinemia OMIM:616299
Rh-Null, Regulator Type
Stomatocytosis, Hemolytic anemia, Unconjugated hyperbilirubinemia OMIM:268150
Abdominal Obesity-Metabolic Syndrome 3
Hypertriglyceridemia, Truncal obesity, Increased LDL cholesterol concentration, Abdominal obesity... OMIM:615812
Cholesteryl Ester Storage Disease
Hypertriglyceridemia, Steatorrhea, Decreased HDL cholesterol concentration, Anemia, Increased LDL... OMIM:278000
Cholestasis, Benign Recurrent Intrahepatic, 1
Increased serum bile acid concentration, Conjugated hyperbilirubinemia OMIM:243300
Biliary Atresia, Extrahepatic
Increased total bilirubin, Hyperbilirubinemia, Unconjugated hyperbilirubinemia OMIM:210500
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hypertriglyceridemia, Anemia, Hemophagocytosis, Pancytopenia, Hypoproteinemia, Increased total bi... OMIM:603553
Chronic Myeloid Leukemia
Myeloproliferative disorder, Leukocytosis, Abnormal granulocyte morphology, Thrombocytopenia, Spl... ORPHA:521
Congenital Bile Acid Synthesis Defect Type 2
Steatorrhea, Hyperbilirubinemia, Abnormal serum bile acid concentration, Failure to thrive, Conju... ORPHA:79303
Morgagni-Stewart-Morel Syndrome
Obesity, Hypercholesterolemia, Hyperuricemia ORPHA:77296
Relapsing Fever
Anemia, Elevated circulating C-reactive protein concentration, Leukocytosis, Increased total bili... ORPHA:91547
Laron Syndrome
Hypercholesterolemia, Truncal obesity ORPHA:633
Cholestasis, Progressive Familial Intrahepatic, 2
Failure to thrive, Splenomegaly, Conjugated hyperbilirubinemia OMIM:601847
Beta-Ketothiolase Deficiency
Hyperuricemia, Leukocytosis, Hyperammonemia, Weight loss, Thrombocytosis ORPHA:134
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies
Abnormal circulating thyroglobulin concentration, Conjugated hyperbilirubinemia ORPHA:95715
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Hyperbilirubinemia, Obesity, Decreased circulating cortisol level OMIM:609734
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Hypoalbuminemia, Hypercholesterolemia, Elevated circulating creatine kinase concentration OMIM:208920
Bile Acid Conjugation Defect 1
Conjugated hyperbilirubinemia OMIM:619232
Hijazi-Reis Syndrome
Hyperbilirubinemia OMIM:301094
Bile Acid Synthesis Defect, Congenital, 4
Hyperbilirubinemia, Decreased serum bile acid concentration, Failure to thrive OMIM:214950
Hereditary Elliptocytosis
Hyperbilirubinemia, Reticulocytosis, Poikilocytosis, Elliptocytosis, Splenomegaly, Neonatal hyper... ORPHA:288
Cholestasis, Progressive Familial Intrahepatic, 5
Hyperammonemia, Elevated circulating alpha-fetoprotein concentration, Failure to thrive, Conjugat... OMIM:617049
Mitochondrial Complex Iii Deficiency, Nuclear Type 5
Elevated circulating suberic acid concentration, Increased serum pyruvate, Hyperalaninemia, Hyper... OMIM:615160
Autosomal Dominant Spastic Paraplegia Type 29
Hyperbilirubinemia ORPHA:101009
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Obesity, Hypercholesterolemia, Small for gestational age, Truncal obesity ORPHA:96184
Celiac Disease, Susceptibility To, 1
Steatorrhea, Iron deficiency anemia, Macrocytic anemia, Hypocalcemia, Failure to thrive, Weight l... OMIM:212750
Drug-Induced Autoimmune Hemolytic Anemia
Increased total bilirubin, Splenomegaly, Autoimmune hemolytic anemia ORPHA:90037
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Hypoalbuminemia, Hypercholesterolemia, Elevated circulating creatine kinase concentration, Elevat... ORPHA:64753
Wolcott-Rallison Syndrome
Iron deficiency anemia, Lymphocytosis, Hyperbilirubinemia, Decreased body weight, Hyperammonemia,... ORPHA:1667
Cholestasis, Progressive Familial Intrahepatic, 8
Elevated circulating alpha-fetoprotein concentration, Hypercholesterolemia, Increased serum bile ... OMIM:619662
Interstitial Lung And Liver Disease
Anemia, Intraalveolar phospholipid accumulation, Hyperammonemia, Failure to thrive, Thrombocytosis OMIM:615486
Citrullinemia Type Ii
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Elevated plasma citrulline, Decrea... ORPHA:247585
Hepatoportal Sclerosis
Anemia, Hyperbilirubinemia, Leukopenia, Splenomegaly, Thrombocytopenia, Hypoalbuminemia, Hyperspl... ORPHA:64743
Cholestasis, Progressive Familial Intrahepatic, 1
Failure to thrive, Splenomegaly, Conjugated hyperbilirubinemia OMIM:211600
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Increased total bilirubin, Hypoalbuminemia, Hyperkalemia, Conjugated hyperbilirubinemia OMIM:618528
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Thrombocytosis, Elevated circulating C-reactive protein concentration, Iron deficiency anemia, Ly... OMIM:301074
Hypermanganesemia With Dystonia 1
Hypermanganesemia, Polycythemia, Increased total iron binding capacity, Unconjugated hyperbilirub... OMIM:613280
Congenital Disorder Of Glycosylation, Type Ia
Steatorrhea, Failure to thrive, Hypoalbuminemia, Hypocholesterolemia, Thrombocytosis OMIM:212065
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia, Obesity ORPHA:209902
Idiopathic Congenital Hypothyroidism
Neonatal hyperbilirubinemia ORPHA:95717
3-Hydroxy-3-Methylglutaric Aciduria
Anemia, Hyperuricemia, Leukocytosis, Hyperammonemia, Leukopenia, Weight loss, Thrombocytosis ORPHA:20
Hereditary Spherocytosis
Anemia, Spontaneous hemolytic crises, Increased mean corpuscular hemoglobin concentration, Hyperb... ORPHA:822
Glycogen Storage Disease Xii
Normocytic anemia, Reduced haptoglobin level, Decreased erythrocyte fructose-1,6-bisphosphate ald... OMIM:611881
Trichohepatoenteric Syndrome 1
Abnormality of iron homeostasis, Hypergalactosemia, Failure to thrive, Increased mean platelet vo... OMIM:222470
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypertriglyceridemia, Hypoalbuminemia, Hypercholesterolemia, Abnormal circulating lipid concentra... ORPHA:567548
9Q31.1Q31.3 Microdeletion Syndrome
Overweight, Hypercholesterolemia ORPHA:401923
Fetal Cytomegalovirus Syndrome
Thrombocytopenia, Anemia, Splenomegaly, Conjugated hyperbilirubinemia ORPHA:294
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis
Failure to thrive, Decreased HDL cholesterol concentration, Decreased LDL cholesterol concentrati... OMIM:616834
Hyperlipoproteinemia, Type I
Lactescent serum, Increased circulating chylomicron concentration, Hyperlipidemia, Hepatosplenome... OMIM:238600
Congenital Generalized Lipodystrophy
Hypertriglyceridemia, Failure to thrive, Increased C-peptide level, Hypercholesterolemia ORPHA:528
Smith-Magenis Syndrome
Hypertriglyceridemia, Increased body weight, Hypercholesterolemia OMIM:182290
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hyperbilirubinemia, Failure to thrive, Thrombocytopenia, Splenomegaly, Elevated circulating alpha... OMIM:251880
Nephrotic Syndrome, Type 11
Hypoalbuminemia, Hypercholesterolemia OMIM:616730
Intrahepatic Cholestasis Of Pregnancy
Small for gestational age, Hyperbilirubinemia, Increased serum bile acid concentration ORPHA:69665
Peroxisome Biogenesis Disorder 12A (Zellweger)
Hyperbilirubinemia, Decreased body weight, Elevated circulating long chain fatty acid concentration OMIM:614886
Glutaric Acidemia Type 3
Failure to thrive, Abnormal circulating enzyme concentration, Elevated circulating glutaric acid ... ORPHA:35706
Bile Acid Synthesis Defect, Congenital, 3
Hyperbilirubinemia, Steatorrhea, Failure to thrive, Splenomegaly OMIM:613812
Cholestasis, Benign Recurrent Intrahepatic, 2
Conjugated hyperbilirubinemia OMIM:605479
Neuroleptic Malignant Syndrome
Hyperkalemia, Hyperuricemia, Hypocalcemia, Elevated circulating creatine kinase concentration, Le... ORPHA:94093
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Failure to thrive, Truncal obesity, Small for gestational age, Neonatal hyperbilirubinemia ORPHA:73272
Mixed-Type Autoimmune Hemolytic Anemia
Increased total bilirubin, Autoimmune hemolytic anemia ORPHA:90036
Gaisböck Syndrome
Hypertriglyceridemia, Increased red blood cell count, Elevated plasma cell count, Hyperuricemia, ... ORPHA:90041
Dysbetalipoproteinemia
Hypertriglyceridemia, Xanthelasma, Decreased HDL cholesterol concentration, Increased LDL cholest... ORPHA:412
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hypertyrosinemia, Hyperbilirubinemia, Failure to thrive, Conjugated hyperbilirubinemia, Hypoalbum... OMIM:617156
Bachmann-Bupp Syndrome
Hyperbilirubinemia, Large for gestational age OMIM:619075
Dubin-Johnson Syndrome
Conjugated hyperbilirubinemia ORPHA:234
Congenital Bile Acid Synthesis Defect Type 3
Hyperbilirubinemia, Hepatosplenomegaly ORPHA:79302
Pearson Marrow-Pancreas Syndrome
Steatorrhea, Refractory sideroblastic anemia, Anemia, Pancytopenia, Hyperbilirubinemia, Reticuloc... OMIM:557000
Abetalipoproteinemia
Steatorrhea, Decreased HDL cholesterol concentration, Anemia, Hypotriglyceridemia, Hyperbilirubin... ORPHA:14
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hypertriglyceridemia, Anemia, Increased body weight, Abnormal erythrocyte enzyme concentration or... ORPHA:264580
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Hyperammonemia, Failure to thrive, Conjugated hyperbilirubinemia, Decreased serum zinc, Hypoalbum... OMIM:617093
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis
Hyperbilirubinemia, Increased serum bile acid concentration OMIM:619685
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Failure to thrive, Thrombocytopenia, Small for gestational age, Conjugated hyperbilirubinemia OMIM:208085
Ataxia With Vitamin E Deficiency
Hypertriglyceridemia, Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:277460
Liver Failure, Infantile, Transient
Hypoalbuminemia, Hyperbilirubinemia OMIM:613070
Chronic Bilirubin Encephalopathy
Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia, Hemolytic anemia ORPHA:529808
Acute Bilirubin Encephalopathy
Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia, Hemolytic anemia ORPHA:529799
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hypertriglyceridemia, Anemia, Increased body weight, Elevated circulating creatine kinase concent... ORPHA:79240
Immunodeficiency 92
Decreased proportion of class-switched memory B cells, Lymphocytosis, B lymphocytopenia, Leukocyt... OMIM:619652
Lysinuric Protein Intolerance
Hypertriglyceridemia, Steatorrhea, Decreased HDL cholesterol concentration, Hyperammonemia, Leuko... ORPHA:470
Fanconi-Bickel Syndrome
Increased serum bile acid concentration, Hypokalemia, Hypouricemia, Hyperbilirubinemia, Hypergala... OMIM:227810
Familial Thyroid Dyshormonogenesis
Abnormal circulating thyroglobulin concentration, Neonatal hyperbilirubinemia ORPHA:95716
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Failure to thrive, Conjugated hyperbilirubinemia OMIM:613404
Isolated Thyroid-Stimulating Hormone Deficiency
Failure to thrive, Abnormal circulating thyroglobulin concentration, Hypercholesterolemia, Neonat... ORPHA:90674
Pancreatic Lipase Deficiency
Steatorrhea, Hypocholesterolemia OMIM:614338
Low Phospholipid-Associated Cholelithiasis
Obesity, Overweight, Hypercholesterolemia ORPHA:69663
Smith-Magenis Syndrome
Hypertriglyceridemia, Failure to thrive in infancy, Obesity, Hypercholesterolemia ORPHA:819
Polycythemia Vera
Acute leukemia, Leukocytosis, Polycythemia, Splenomegaly, Weight loss, Thrombocytosis ORPHA:729
Familial Thrombocytosis
Acute myeloid leukemia, Splenomegaly, Weight loss, Chronic myelogenous leukemia, Thrombocytosis ORPHA:71493
Cystic Echinococcosis
Eosinophilia, Hyperbilirubinemia, Weight loss, Splenic cyst ORPHA:400
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Anemia, Elevated circulating C-reactive protein concentration, Pancytopenia, Leukocytosis, Leukop... OMIM:615688
Parenteral Nutrition-Associated Cholestasis
Hyperlipidemia, Splenomegaly, Conjugated hyperbilirubinemia, Abnormal circulating fatty-acid conc... ORPHA:567983
Syndromic Diarrhea
Abnormality of iron homeostasis, Hypoplasia of the thymus, Increased mean platelet volume, Spleno... ORPHA:84064
Osteopetrosis, Autosomal Recessive 5
Anemia, Hypochromic microcytic anemia, Pancytopenia, Hypocalcemia, Hyperbilirubinemia, Leukocytos... OMIM:259720
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Autoimmune hemolytic anemia, Impaired lymphocyte transformation with phytohemagglutinin, Leukocyt... OMIM:243150
Spastic Paraplegia 29, Autosomal Dominant
Neonatal hyperbilirubinemia OMIM:609727
Poems Syndrome
Polycythemia, Thrombocytosis, Splenomegaly, Weight loss ORPHA:2905
Graft Versus Host Disease
Hyperbilirubinemia, Failure to thrive, Hepatosplenomegaly, Hemophagocytosis ORPHA:39812
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Chronic hemolytic anemia, Leukocytosis, Reticulocytosis, Unconjugated hyperbilirubinemia, Failure... OMIM:618278
Brucellosis
Anemia, Elevated circulating C-reactive protein concentration, Leukocytosis, Failure to thrive, L... ORPHA:1304
Pyruvate Carboxylase Deficiency
Hypertaurinemia, Elevated plasma citrulline, Hyperglutamatemia, Increased serum pyruvate, Hyperal... ORPHA:3008
Car T Cell Therapy-Associated Cytokine Release Syndrome
Hyperbilirubinemia, Elevated circulating creatinine concentration ORPHA:542323
Immunodeficiency 47
Normocytic anemia, Decreased circulating copper concentration, Accessory spleen, Failure to thriv... OMIM:300972
Lathosterolosis
Anisopoikilocytosis, Hyperammonemia, Elevated circulating lathosterol concentration, Hyperbilirub... OMIM:607330
Diamond-Blackfan Anemia
Elevated red cell adenosine deaminase activity, Acute myeloid leukemia, Normochromic anemia, Eryt... ORPHA:124
Lysosomal Acid Lipase Deficiency
Hypertriglyceridemia, Xanthelasma, Steatorrhea, Hyperkalemia, Anemia, Cachexia, Vacuolated lympho... ORPHA:275761
Galloway-Mowat Syndrome 7
Hypercholesterolemia OMIM:618348
Fumarase Deficiency
Hyperbilirubinemia, Polycythemia, Failure to thrive OMIM:606812
Acquired Aneurysmal Subarachnoid Hemorrhage
Hypercholesterolemia, Leukocytosis ORPHA:90065
Mandibuloacral Dysplasia
Hypertriglyceridemia, Increased circulating free fatty acid level, Hypercholesterolemia ORPHA:2457
Isolated Biliary Atresia
Xanthelasma, Severe failure to thrive, Failure to thrive, Splenomegaly, Conjugated hyperbilirubin... ORPHA:30391
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Hypokalemia, Leukocytosis, Reticulocytosis, Unconjugated hyperbilirubinemia, Hyponatremia, Thromb... ORPHA:90038
Autoerythrocyte Sensitization Syndrome
Autoimmune thrombocytopenia, Thrombocytosis, Abnormal erythrocyte morphology, Impaired platelet a... ORPHA:324636
Hypobetalipoproteinemia, Familial, 1
Hypertriglyceridemia, Steatorrhea, Decreased HDL cholesterol concentration, Decreased LDL cholest... OMIM:615558
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Elevated circulating long chain fatty acid concentration, Elevated circulating creatine kinase co... OMIM:608836
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Hypertriglyceridemia, Hypercholesterolemia OMIM:610644
Pituitary Hormone Deficiency, Combined, 6
Hyperbilirubinemia OMIM:613986
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Hyperkalemia, Splenomegaly, Conjugated hyperbilirubinemia, Stomatocytosis, Hemolytic anemia OMIM:608885
Congenital Disorder Of Glycosylation, Type Iiaa
Hyperammonemia, Hypercholesterolemia OMIM:620454
Peroxisome Biogenesis Disorder 13A (Zellweger)
Increased circulating very long-chain fatty acid concentration, Conjugated hyperbilirubinemia OMIM:614887
Distal Xq28 Microduplication Syndrome
Neonatal hyperbilirubinemia ORPHA:293939
Diamond-Blackfan Anemia 1
Elevated red cell adenosine deaminase activity, Macrocytic anemia, Increased mean corpuscular vol... OMIM:105650
Primary Biliary Cholangitis
Abnormal circulating lipid concentration, Xanthelasma, Steatorrhea, Splenomegaly, Conjugated hype... ORPHA:186
Idiopathic Hypereosinophilic Syndrome
Anemia, Myeloproliferative disorder, Leukocytosis, Failure to thrive, Neutrophilia, Hepatosplenom... ORPHA:3260
Fructose-1,6-Bisphosphatase Deficiency
Hyperalaninemia, Neonatal hyperbilirubinemia, Hyperuricemia ORPHA:348
Caroli Syndrome
Hyperbilirubinemia, Leukocytosis, Thrombocytopenia, Leukopenia, Conjugated hyperbilirubinemia, Hy... ORPHA:480520
Caroli Disease
Leukocytosis, Weight loss, Splenomegaly, Conjugated hyperbilirubinemia ORPHA:53035
Bardet-Biedl Syndrome 20
Obesity, Hypercholesterolemia OMIM:619471
Megalocornea-Intellectual Disability Syndrome
Hypercholesterolemia ORPHA:2479
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Failure to thrive, Thrombocytosis, Leukocytosis, Hypochromic anemia OMIM:618213
Hypothyroidism Due To Tsh Receptor Mutations
Increased circulating thyroglobulin concentration, Neonatal hyperbilirubinemia ORPHA:90673
Mitchell-Riley Syndrome
Hyperbilirubinemia OMIM:615710
Neuhauser Syndrome
Hypercholesterolemia OMIM:249310
Paroxysmal Nocturnal Hemoglobinuria
Reduced haptoglobin level, Anemia, Pancytopenia, Abnormal erythrocyte enzyme concentration or act... ORPHA:447
Kawasaki Disease
Hypoalbuminemia, Thrombocytosis, Leukocytosis, Elevated circulating C-reactive protein concentration ORPHA:2331
Prader-Willi Syndrome
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Obesity, Class III obesity, Abdomi... OMIM:176270
Autoimmune Hepatitis
Increased total bilirubin, Splenomegaly ORPHA:2137
Lissencephaly Due To Lis1 Mutation
Neonatal hyperbilirubinemia ORPHA:95232
Hereditary Cryohydrocytosis With Reduced Stomatin
Stomatocytosis, Hepatosplenomegaly, Conjugated hyperbilirubinemia, Spontaneous hemolytic crises ORPHA:168577
Congenital Erythropoietic Porphyria
Increased erythrocyte protoporphyrin concentration, Reduced haptoglobin level, Reticulocytosis, U... ORPHA:79277
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Hyperbilirubinemia, Thrombocytopenia ORPHA:464321
Autoinflammatory Disease, Systemic, With Vasculitis
Anemia, Elevated circulating C-reactive protein concentration, Increased B cell count, Increased ... OMIM:620376
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hypertriglyceridemia, Xanthelasma, Anemia, Hyperuricemia, Chronic neutropenia, Hyperlipidemia, Fa... ORPHA:79259
Wilson Disease
Anemia, Decreased circulating ceruloplasmin concentration, Hypouricemia, Hyperbilirubinemia, Thro... OMIM:277900
Peroxisome Biogenesis Disorder 5A (Zellweger)
Increased circulating very long-chain fatty acid concentration, Elevated circulating phytanic aci... OMIM:614866
Reynolds Syndrome
Steatorrhea, Calcinosis, Hyperbilirubinemia, Splenomegaly, Lymphopenia OMIM:613471
Fructose Intolerance, Hereditary
Bicarbonaturia, Hyperuricemia, Hyperbilirubinemia, Failure to thrive, Hypophosphatemia OMIM:229600
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Hypocalcemia, Hyperbilirubinemia, Thrombocytopenia, Anemia ORPHA:163979
Rajab Interstitial Lung Disease With Brain Calcifications 1
Anemia, Pancytopenia, Hypocalcemia, Unconjugated hyperbilirubinemia, Failure to thrive, Slender b... OMIM:613658
Lipodystrophy, Familial Partial, Type 2
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia OMIM:151660
Mirizzi Syndrome
Hyperbilirubinemia ORPHA:521219
Cogan Syndrome
Thrombocytosis, Anemia, Leukocytosis ORPHA:1467
Yellow Fever
Hyperbilirubinemia, Leukocytosis, Elevated circulating creatine kinase concentration, Neutrophili... ORPHA:99829
Mandibuloacral Dysplasia With Type A Lipodystrophy
Calcinosis, Hypercholesterolemia, Hyperlipidemia OMIM:248370
Hypothyroidism, Congenital, Nongoitrous, 2
Increased circulating thyroglobulin concentration, Hyperbilirubinemia OMIM:218700
Lmna-Related Cardiocutaneous Progeria Syndrome
Hypertriglyceridemia, Hypercholesterolemia ORPHA:363618
Liver Disease, Severe Congenital
Anemia, Hypocalcemia, Hyperbilirubinemia, Lymphocytosis, Hypoproteinemia, Hyperalaninemia, Hypona... OMIM:619991
Senior-Boichis Syndrome
Increased total bilirubin, Hepatosplenomegaly, Anemia ORPHA:84081
Hardikar Syndrome
Hyperbilirubinemia, Failure to thrive, Thrombocytopenia, Hepatosplenomegaly, Splenomegaly, Hypers... OMIM:301068
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Hyperbilirubinemia ORPHA:562639
Degcags Syndrome
Anemia, Iron deficiency anemia, Pancytopenia, Hyperbilirubinemia, Abnormal spleen morphology, Fai... OMIM:619488
Lowe Oculocerebrorenal Syndrome
Bicarbonaturia, Elevated circulating creatine kinase concentration, Failure to thrive, Elevated a... OMIM:309000
Oculocerebrorenal Syndrome Of Lowe
Anemia, Hypokalemia, Hyponatremia, Failure to thrive, Thrombocytopenia, Hypophosphatemia, Hyperal... ORPHA:534
Ogden Syndrome
Hyperbilirubinemia, Polycythemia, Thrombocytopenia, Iron deficiency anemia OMIM:300855
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Hyperbilirubinemia, Decreased body weight, Failure to thrive, Obesity, Overweight OMIM:619475
X-Linked Intellectual Disability, Nascimento Type
Neonatal hyperbilirubinemia, Neutropenia ORPHA:163956
Cranioectodermal Dysplasia 2
Hyperbilirubinemia, Splenomegaly, Polysplenia OMIM:613610
Alagille Syndrome 1
Hypertriglyceridemia, Failure to thrive, Hypercholesterolemia OMIM:118450
Lipodystrophy, Familial Partial, Type 7
Hypertriglyceridemia, Failure to thrive, Hypercholesterolemia, Small for gestational age OMIM:606721
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Conjugated hyperbilirubinemia OMIM:208500
Biliary, Renal, Neurologic, And Skeletal Syndrome
Hyperbilirubinemia, Failure to thrive, Splenomegaly, Conjugated hyperbilirubinemia, Hypoalbuminem... OMIM:619534
Neurooculorenal Syndrome
Decreased circulating cortisol level, Conjugated hyperbilirubinemia OMIM:620305
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Hyperbilirubinemia, Failure to thrive OMIM:210710
Doors Syndrome
Thrombocytosis ORPHA:79500
Leukocyte Adhesion Deficiency
Acute myeloid leukemia, Impaired platelet aggregation, Leukocytosis, Abnormality of neutrophil ph... ORPHA:2968
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Aplasia of the thymus, Unconjugated hyperbilirubinemia OMIM:620186
Steinert Myotonic Dystrophy
Hypercholesterolemia ORPHA:273
Congenital Disorder Of Glycosylation, Type Iim
Neonatal hyperbilirubinemia OMIM:300896
Homozygous Familial Hypercholesterolemia
Increased LDL cholesterol concentration, Hypercholesterolemia, Hyperlipidemia ORPHA:391665
Johanson-Blizzard Syndrome
Hypocalcemia, Increased VLDL cholesterol concentration, Failure to thrive, Splenomegaly, Conjugat... OMIM:243800

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 Usp33

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 Usp33.

There are 2 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. Nature communications (August 2019) Usp33tm1a(EUCOMM)Wtsi PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss. PLoS biology (April 2019)