banner
Genes Phenotypes Help, News, Blog

Gene: Usp54 MGI:1926037

Log in to follow

Gene Summary

Name:
ubiquitin specific peptidase 54
Synonyms:
4930429G18Rik,  C030002J06Rik

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
enlarged heart Usp54tm1b(KOMP)Wtsi HOM Early adult 0.00
increased red blood cell distribution width Usp54tm1b(KOMP)Wtsi HOM Early adult 6.51×10-09
decreased circulating total protein level Usp54tm1b(KOMP)Wtsi HOM Early adult 1.14×10-05
decreased hemoglobin content Usp54tm1b(KOMP)Wtsi HOM Early adult 2.39×10-05
increased neutrophil cell number Usp54tm1b(KOMP)Wtsi HOM Early adult 1.78×10-21
decreased circulating fructosamine level Usp54tm1b(KOMP)Wtsi HOM Early adult 4.20×10-07
decreased lymphocyte cell number Usp54tm1b(KOMP)Wtsi HOM Early adult 3.25×10-19
increased circulating aspartate transaminase level Usp54tm1b(KOMP)Wtsi HOM Early adult 2.71×10-07
increased circulating alanine transaminase level Usp54tm1b(KOMP)Wtsi HOM Early adult 4.54×10-07
decreased circulating amylase level Usp54tm1b(KOMP)Wtsi HOM Early adult 2.80×10-05
decreased exploration in new environment Usp54tm1b(KOMP)Wtsi HOM Early adult 5.58×10-05
decreased circulating serum albumin level Usp54tm1b(KOMP)Wtsi HOM Early adult 6.95×10-09

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
Viewing: all phenotypes

lacZ Expression

No Adult expression data was found for this gene.

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Brain N/A heterozygote 100% (2 of 2)
Brain N/A homozygote 100% (2 of 2)
Ear N/A heterozygote 50% (1 of 2)
Ear N/A homozygote 50% (1 of 2)
Embryo N/A heterozygote 100% (2 of 2)
Embryo N/A homozygote 100% (2 of 2)
Eye N/A heterozygote 100% (2 of 2)
Eye N/A homozygote 100% (2 of 2)
Footplate N/A heterozygote 0.0% (0 of 2)
Footplate N/A homozygote 100% (2 of 2)
Forebrain N/A heterozygote 100% (2 of 2)
Forebrain N/A homozygote 100% (2 of 2)
Forelimb N/A heterozygote 100% (2 of 2)
Forelimb N/A homozygote 100% (2 of 2)
Handplate N/A heterozygote 0.0% (0 of 2)
Handplate N/A homozygote 100% (2 of 2)
Head N/A heterozygote 100% (2 of 2)
Head N/A homozygote 100% (2 of 2)
Heart N/A heterozygote 50% (1 of 2)
Heart N/A homozygote 50% (1 of 2)
Hindbrain N/A heterozygote 100% (2 of 2)
Hindbrain N/A homozygote 100% (2 of 2)
Hindlimb N/A heterozygote 100% (2 of 2)
Hindlimb N/A homozygote 100% (2 of 2)
Liver N/A heterozygote 50% (1 of 2)
Liver N/A homozygote 50% (1 of 2)
Lung N/A heterozygote 50% (1 of 2)
Lung N/A homozygote 50% (1 of 2)
Mandibular process N/A heterozygote 50% (1 of 2)
Mandibular process N/A homozygote 50% (1 of 2)
Maxillary process N/A heterozygote 50% (1 of 2)
Maxillary process N/A homozygote 50% (1 of 2)
Midbrain N/A heterozygote 100% (2 of 2)
Midbrain N/A homozygote 100% (2 of 2)
Oral cavity N/A heterozygote 50% (1 of 2)
Oral cavity N/A homozygote 50% (1 of 2)
Skin N/A heterozygote 0.0% (0 of 2)
Skin N/A homozygote 50% (1 of 2)
Tail somite N/A heterozygote 50% (1 of 2)
Tail somite N/A homozygote 50% (1 of 2)
Tail N/A heterozygote 100% (2 of 2)
Tail N/A homozygote 100% (2 of 2)

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)

Background staining occurs in wild type mice and embryos at an incidental rate.

Background staining occurs in wild type embryos at a measurable rate.

Anatomy Background staining in controls(WT)
brain 0.0%
ear 0.0%
embryo 0.0%
eye 0.0%
footplate 0.0%
forebrain 0.0%
forelimb 0.0%
handplate 0.0%
head 0.0%
heart 0.0%
hindbrain 0.0%
hindlimb 0.0%
liver 0.0%
lung 0.0%
mandibular process 0.0%
maxillary process 0.0%
midbrain 0.0%
oral cavity 0.0%
skin 0.0%
tail 0.0%
tail somite group 0.0%

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 Lateral Orientation

10 Images

View images
Echo

M-Mode Images

32 Images

View images
X-ray

XRay Images Whole Body Dorso Ventral

10 Images

View images
X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

View images
Embryo LacZ

LacZ images wholemount

8 Images

View images
PDF thumbnail PDF
Auditory Brain Stem Response

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

4 Images

View images
FCS thumbnail FCS
Immunophenotyping

Panel B FCS file(s)

8 Images

View images
FCS thumbnail FCS
Immunophenotyping

Panel A FCS file(s)

8 Images

View images

Human diseases caused by Usp54 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 Usp54 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Hemoglobin E-Beta-Thalassemia Syndrome
Increased circulating ferritin concentration, Anemia, Abnormal hemoglobin ORPHA:231249
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Chronic hemolytic anemia, Anemia, Reduced red cell pyruvate kinase level, Reticulocytosis, Poikil... ORPHA:766
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Hypoproteinemia, Lymphopenia OMIM:207731
Iron-Refractory Iron Deficiency Anemia
Poikilocytosis, Elevated circulating hepcidin concentration, Anisocytosis, Hypochromic microcytic... OMIM:206200
Lymphangiectasia, Intestinal
Neonatal hypoproteinemia, Lymphopenia OMIM:152800
Hemoglobin D Disease
Anemia, HbS hemoglobin, Reduced alpha/beta synthesis ratio, Sickled erythrocytes, Decreased mean ... ORPHA:90039
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hypertriglyceridemia, Irritability, Decreased HDL cholesterol concentration, Hepatomegaly, Anemia... OMIM:267700
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Hypoproteinemia, Lymphopenia ORPHA:1116
Immunodeficiency 43
Lung abscess, B lymphocytopenia, Hypoproteinemia, Decreased circulating beta-2-microglobulin leve... OMIM:241600
Immunodeficiency 115 With Autoinflammation
Anemia, Elevated circulating C-reactive protein concentration, Elevated haptoglobin level, T lymp... OMIM:620632
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hepatomegaly, Anemia, Hypochromia, Elevated hepatic iron concentration, Anisocytosis, Hepatosplen... OMIM:616860
Nephrotic Syndrome, Type 7
Hypoalbuminemia, Thrombocytopenia, Hemolytic anemia OMIM:615008
Refractory Celiac Disease
Normocytic anemia, Iron deficiency anemia, Macrocytic anemia, Hypocalcemia, Hypoproteinemia, Incr... ORPHA:398063
Immunodeficiency 32B
Hepatomegaly, Anemia, Monocytopenia, Neutrophilia, Thrombocytopenia, Splenomegaly, Hypoalbuminemi... OMIM:226990
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly, Hypoalbuminemia ORPHA:88643
Cholestasis, Progressive Familial Intrahepatic, 10
Hepatomegaly, Increased serum bile acid concentration, Increased total bilirubin, Splenomegaly, C... OMIM:619868
Omenn Syndrome
Hepatomegaly, Anemia, B lymphocytopenia, Hypoproteinemia, Hypoplasia of the thymus, Severe B lymp... OMIM:603554
Anemia, Congenital Dyserythropoietic, Type Iv
Reduced hematocrit, Anemia, Reduced haptoglobin level, Hepatomegaly, Hyperbilirubinemia, Anemia o... OMIM:613673
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hypertriglyceridemia, Irritability, Hepatomegaly, Anemia, Hemophagocytosis, Pancytopenia, Hypopro... OMIM:603553
Pentosuria
Abnormal circulating carbohydrate concentration, Abnormal circulating enzyme concentration ORPHA:2843
Enterokinase Deficiency
Hypoproteinemia OMIM:226200
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency
Hypoalbuminemia, Cardiomyopathy, Increased circulating creatine kinase MM isoform, Hypermethionin... OMIM:613752
Autoinflammation With Infantile Enterocolitis
Increased circulating ferritin concentration, Anemia, Elevated circulating C-reactive protein con... OMIM:616050
Cardiomyopathy, Dilated, 1I
Cardiomegaly, Dilated cardiomyopathy, Elevated circulating creatine kinase concentration OMIM:604765
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hepatomegaly, Anemia, Iron deficiency anemia, Hypoproteinemia, Hypoalbuminemia, Thrombocytosis OMIM:226300
Immunodeficiency 27A
Anemia, Leukocytosis, Hepatosplenomegaly, Splenomegaly, Hypoalbuminemia, Thrombocytosis, Histiocy... OMIM:209950
Primary Intestinal Lymphangiectasia
Anemia, Decreased proportion of CD3-positive T cells, Hypocalcemia, Hypoproteinemia, Reduced prop... ORPHA:90362
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Fava bean-induced hemolytic anemia, Leukocytosis, Reticulocytosis, Poikilocytosis, Unconjugated h... OMIM:300908
Focal Segmental Glomerulosclerosis 1
Hypoalbuminemia, Hyperlipidemia, Anemia OMIM:603278
Lymphoproliferative Syndrome, X-Linked, 1
Aplastic anemia, Hepatomegaly, Hemophagocytosis, Elevated circulating C-reactive protein concentr... OMIM:308240
Leishmaniasis
Hepatomegaly, Anemia, Pancytopenia, Abnormal macrophage morphology, Leukopenia, Splenomegaly, Thr... ORPHA:507
Anemia, Congenital Dyserythropoietic, Type Ib
Hepatomegaly, Anemia, Anemia of inadequate production, Reticulocytosis, Poikilocytosis, Anisocyto... OMIM:615631
Dengue Fever
Thrombocytopenia, Hypoproteinemia, Leukopenia, Hepatomegaly ORPHA:99828
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Erythroid hypoplasia, Acute myeloid leukemia, Macrocytic anemia, Abnormal neutrophil morphology, ... ORPHA:86841
Ménétrier Disease
Hypoalbuminemia, Hypoproteinemia, Hypochromic microcytic anemia ORPHA:2494
Triokinase And Fmn Cyclase Deficiency Syndrome
Hypoalbuminemia, Dilated cardiomyopathy, Hepatomegaly, Microcytic anemia OMIM:618805
Gastritis, Familial Giant Hypertrophic
Hypoproteinemia OMIM:137280
Nephrotic Syndrome, Type 15
Hypoalbuminemia OMIM:617609
Citrullinemia Type Ii
Hypertriglyceridemia, Irritability, Decreased HDL cholesterol concentration, Elevated plasma citr... ORPHA:247585
Nephrotic Syndrome, Type 2
Hypoalbuminemia, Hyperlipidemia OMIM:600995
Anemia, Congenital Dyserythropoietic, Type Ia
Hepatomegaly, Hyperbilirubinemia, Macrocytic dyserythropoietic anemia, Anemia of inadequate produ... OMIM:224120
Erythroderma, Lethal Congenital
Hypoalbuminemia OMIM:227090
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Poikilocytosis, Anisocytosis, Anemia of inadequate production, Oval macrocytosis OMIM:603529
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Hypoproteinemia OMIM:221400
Rh-Null, Amorph Type
Hyperbilirubinemia, Reticulocytosis, Anisocytosis, Stomatocytosis, Hemolytic anemia OMIM:617970
Macrophage Activation Syndrome
Hypertriglyceridemia, Hepatomegaly, Anemia, Hemophagocytosis, Abnormal natural killer cell count,... ORPHA:158061
Diarrhea 13
Hypoalbuminemia OMIM:620357
Diarrhea 7, Protein-Losing Enteropathy Type
Hypoalbuminemia, Hypercholesterolemia, Hyperlipidemia OMIM:615863
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Anemia of inadequate production, Poikilocytosis, Anisocytosis, Macrothrombocytopenia, Hypochromic... ORPHA:67044
Congenital Enterovirus Infection
Myocarditis, Irritability, Anemia, Abnormal macrophage morphology, Cardiomyopathy, Leukocytosis, ... ORPHA:292
Coenzyme Q10 Deficiency, Primary, 3
Hypoalbuminemia OMIM:614652
Congenital Dyserythropoietic Anemia Type Iii
Increased total iron binding capacity, Anemia, Increased mean corpuscular volume, Hyperbilirubine... ORPHA:98870
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Anemia, Increased mean corpuscular volume, Ventricular septal defect, Sideroblastic anemia, Throm... OMIM:617021
Eosinophilic Gastroenteritis
Anemia, Elevated circulating C-reactive protein concentration, Leukocytosis, Eosinophilia, Hypoal... ORPHA:2070
Rh Deficiency Syndrome
Reduced haptoglobin level, Macrocytic anemia, Hyperbilirubinemia, Hypochromia, Spherocytosis, Ret... ORPHA:71275
Nephrotic Syndrome, Type 9
Hypoalbuminemia OMIM:615573
Focal Segmental Glomerulosclerosis 6
Hypoalbuminemia OMIM:614131
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hypertriglyceridemia, Hypoalbuminemia, Hepatosplenomegaly, Microcytic anemia OMIM:619013
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Hepatomegaly, Anemia, Hypoproteinemia, Cardiomyopathy, Leukocytosis, Elevated circulating creatin... OMIM:615895
Nephrotic Syndrome, Type 1
Hypoalbuminemia, Hypoproteinemia, Hyperlipidemia OMIM:256300
Hemoglobin H Disease
HbH hemoglobin, Hepatomegaly, Reduced alpha/beta synthesis ratio, Splenomegaly, Hemolytic anemia OMIM:613978
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypoalbuminemia, Hypercholesterolemia ORPHA:94124
Analbuminemia
Hypoalbuminemia, Increased LDL cholesterol concentration, Elevated circulating transferrin concen... OMIM:616000
Beta-Thalassemia, Dominant Inclusion Body Type
Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Persistence of hemoglobin F, E... OMIM:603902
Congenital Amegakaryocytic Thrombocytopenia
Thrombocytopenia, Anemia, Abnormal hemoglobin, Abnormal cardiac septum morphology ORPHA:3319
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypoalbuminemia, Hypercholesterolemia OMIM:607250
Nephrotic Syndrome, Type 22
Hypoproteinemia OMIM:619155
Hemophagocytic Syndrome Associated With An Infection
Hypertriglyceridemia, Hepatomegaly, Anemia, Hemophagocytosis, Abnormal natural killer cell count,... ORPHA:158048
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Hepatomegaly, Anemia, Splenomegaly, Persistence of hemoglobin F ORPHA:46532
Johanson-Blizzard Syndrome
Hypoproteinemia, Anemia, Dextrocardia, Abnormal cardiac septum morphology ORPHA:2315
Hepatoportal Sclerosis
Anemia, Hyperbilirubinemia, Cognitive impairment, Thrombocytopenia, Leukopenia, Splenomegaly, Hyp... ORPHA:64743
Chédiak-Higashi Syndrome
Hypertriglyceridemia, Anemia, Hemophagocytosis, Increased proportion of CD25+ mast cells, Pancyto... ORPHA:167
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Elevated circulating creatine kinase concentration, Cognitive impairment, Dementia, Hypoalbuminem... OMIM:208920
Refractory Anemia With Excess Blasts
Abnormal circulating albumin concentration, Acute myeloid leukemia, Abnormal circulating protein ... ORPHA:86839
Diamond-Blackfan Anemia 18
Steroid-responsive anemia, Erythroid hypoplasia, Neutropenia OMIM:618310
Overhydrated Hereditary Stomatocytosis
Decreased mean corpuscular hemoglobin concentration, Reticulocytosis, Abnormal mean corpuscular v... ORPHA:3203
Congenital Lethal Erythroderma
Hypoalbuminemia ORPHA:1954
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Thrombocytopenia, Anemia, Splenomegaly, Abnormal hemoglobin ORPHA:231393
Hemochromatosis, Type 3
Anemia, Cardiomyopathy, Increased circulating iron concentration, Lymphopenia, Elevated transferr... OMIM:604250
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Atrial septal defect, Hepatomegaly, Hypocalcemia, Patent foramen ovale, Hypoproteinemia, Elevated... ORPHA:26793
Anemia, Sideroblastic, And Spinocerebellar Ataxia
Increased erythrocyte protoporphyrin concentration, Anemia, Hypochromic microcytic anemia, Howell... OMIM:301310
Congenital Analbuminemia
Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia, Increased alpha-globulin, Hypercholesterolemia ORPHA:86816
Hemoglobin E Disease
Hypochromic microcytic anemia, Increased red blood cell count, Drug-sensitive hemolytic anemia, H... ORPHA:2133
Combined Oxidative Phosphorylation Deficiency 41
Cardiomegaly, Anemia, Elevated circulating creatine kinase concentration OMIM:618838
Congenital Disorder Of Glycosylation, Type Ih
Perimembranous ventricular septal defect, Hepatomegaly, Anemia, Thrombocytopenia, Hypoalbuminemia... OMIM:608104
Primary Membranoproliferative Glomerulonephritis
Hypoalbuminemia ORPHA:54370
Chylomicron Retention Disease
Hypoalbuminemia, Decreased LDL cholesterol concentration, Hypocholesterolemia, Hypotriglyceridemia OMIM:246700
Retinitis Pigmentosa And Erythrocytic Microcytosis
Anemia, Hypochromia, Poikilocytosis, Elliptocytosis, Anisocytosis, Leukopenia, Thrombocytopenia, ... OMIM:616959
Wolcott-Rallison Syndrome
Hepatomegaly, Iron deficiency anemia, Lymphocytosis, Hyperbilirubinemia, Hyperammonemia, Hyponatr... ORPHA:1667
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Fibronectin Glomerulopathy
Hypoalbuminemia ORPHA:84090
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hypertriglyceridemia, Hepatomegaly, Anemia, Hemophagocytosis, Thrombocytopenia, Splenomegaly, Inc... OMIM:603552
Neutrophilia, Hereditary
Neutrophilia, Splenomegaly OMIM:162830
Congenital Enterocyte Heparan Sulfate Deficiency
Hypoalbuminemia, Abnormal circulating polysaccharide concentration, Abnormal circulating protein ... ORPHA:103910
Amoebiasis Due To Entamoeba Histolytica
Lung abscess, Liver abscess, Anemia, Leukocytosis, Abnormal pericardium morphology, Hypoalbuminem... ORPHA:67
Beta-Thalassemia
Irritability, Abnormality of iron homeostasis, Anemia, Hepatomegaly, Hypertrophic cardiomyopathy,... ORPHA:848
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Alg1-Cdg
Hypoalbuminemia, Abnormal heart morphology, Cardiomyopathy ORPHA:79327
Immunodeficiency 53
Neutrophilia, Impaired lymphocyte transformation with phytohemagglutinin OMIM:617585
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
Hypocalcemia, Abnormal heart morphology, T lymphocytopenia DECIPHER:16
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231242
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Macrocytic anemia, Poikilocytosis, Elliptocytosis, Anisocytosis, Thrombocytopenia, Abnormal retic... OMIM:300835
Reni Syndrome
Hypertriglyceridemia, Hypoalbuminemia, Mental deterioration, Lymphopenia OMIM:617575
Galloway-Mowat Syndrome 8
Hypoalbuminemia OMIM:618349
Ataxia-Oculomotor Apraxia 4
Hypoalbuminemia, Hypercholesterolemia, Elevated circulating alpha-fetoprotein concentration, Cogn... OMIM:616267
Familial Hemophagocytic Lymphohistiocytosis
Hypertriglyceridemia, Hepatomegaly, Anemia, Hemophagocytosis, Thrombocytopenia, Splenomegaly, Hyp... ORPHA:540
Immunodeficiency 24
Decreased proportion of memory B cells, Reduced proportion of mucosal-associated invariant T cell... OMIM:615897
Nephrotic Syndrome, Type 3
Hypoalbuminemia OMIM:610725
Pancreatic insufficiency, combined exocrine
Hypoproteinemia OMIM:260450
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Irritability, Chronic hemolytic anemia, Hepatomegaly, Ventricular hypertrophy, Leukocytosis, Reti... OMIM:618278
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hepatomegaly, Hypocalcemia, Hypoproteinemia, Splenomegaly, Ventricular septal defect OMIM:235255
Nephrotic Syndrome, Type 6
Hypoalbuminemia OMIM:614196
Trimethylaminuria
Depression, Anemia, Splenomegaly, Neutropenia OMIM:602079
Ethanolaminosis
Cardiomegaly OMIM:227150
Congenital Disorder Of Glycosylation, Type Ij
Hypoproteinemia OMIM:608093
Avian Influenza
Elevated circulating C-reactive protein concentration, Elevated circulating creatine kinase conce... ORPHA:454836
Dominant Beta-Thalassemia
Irritability, Abnormality of iron homeostasis, Hypochromic microcytic anemia, Decreased mean corp... ORPHA:231226
Amegakaryocytic Thrombocytopenia, Congenital, 2
Aplastic anemia, Anemia, Pancytopenia, Thrombocytopenia, Elevated circulating alpha-fetoprotein c... OMIM:620481
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hepatomegaly, Hypocalcemia, Hypoproteinemia, Hepatosplenomegaly, Splenomegaly, Ventricular septal... ORPHA:1655
Congenital Disorder Of Glycosylation, Type Il
Atrial septal defect, Hepatomegaly, Pericardial effusion, Splenomegaly, Hypoalbuminemia, Hypochol... OMIM:608776
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypertriglyceridemia, Abnormal circulating lipid concentration, Decreased HDL cholesterol concent... ORPHA:247598
Alg6-Cdg
Hypoalbuminemia, Decreased LDL cholesterol concentration ORPHA:79320
Chronic Bilirubin Encephalopathy
Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia, Hemolytic anemia ORPHA:529808
Acute Bilirubin Encephalopathy
Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia, Hemolytic anemia ORPHA:529799
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Hyperkalemia, Hepatomegaly, Increased total bilirubin, Conjugated hyperbilirubinemia, Hypoalbumin... OMIM:618528
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Generalized Pustular Psoriasis
Elevated circulating C-reactive protein concentration, Hypocalcemia, Leukocytosis, Hyponatremia, ... ORPHA:247353
Galloway-Mowat Syndrome 6
Hypoalbuminemia OMIM:618347
Mucopolysaccharidosis-Plus Syndrome
Enlarged kidney, Hepatomegaly, Anemia, Hypertrophic cardiomyopathy, Thrombocytopenia, Leukopenia,... OMIM:617303
Alpha-Thalassemia-Myelodysplastic Syndrome
Acute leukemia, HbH hemoglobin, Thrombocytopenia, Splenomegaly, Microcytic anemia, Neutropenia ORPHA:231401
Orotic Aciduria
Hypochromia, Folate-unresponsive megaloblastic anemia, Pyrimidine-responsive megaloblastic anemia... OMIM:258900
S-Adenosylhomocysteine Hydrolase Deficiency
Abnormal circulating homocysteine concentration, Abnormal circulating methionine concentration, H... ORPHA:88618
Acetophenetidin Sensitivity
Hemolytic anemia, Methemoglobinemia OMIM:200300
Cyanosis, Transient Neonatal
Hepatomegaly, Anemia, Methemoglobinemia, Reticulocytosis OMIM:613977
Delta-Beta-Thalassemia
Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231237
Immunodeficiency 8 With Lymphoproliferation
Attention deficit hyperactivity disorder, Lymphopenia OMIM:615401
Pseudo-Torch Syndrome 3
Anemia, Leukocytosis, Cardiomegaly, Increased circulating ferritin concentration, Congenital thro... OMIM:618886
Nephrotic Syndrome, Type 11
Hypoalbuminemia, Dilated cardiomyopathy, Ventricular septal defect, Hypercholesterolemia OMIM:616730
Al Amyloidosis
Hepatomegaly, Anemia, Increased circulating NT-proBNP concentration, Howell-Jolly bodies, Abnorma... ORPHA:85443
Immunodeficiency 50
Neutropenia, Lymphopenia OMIM:300988
Liver Failure, Infantile, Transient
Hypoalbuminemia, Irritability, Hyperbilirubinemia, Hepatomegaly OMIM:613070
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Hepatomegaly, Hepatosplenomegaly, Abnormal cardiomyocyte morphology, Hypoalbuminemia, Dilated car... ORPHA:367
Mpi-Cdg
Hypoalbuminemia, Hepatomegaly ORPHA:79319
Genetic Steroid-Resistant Nephrotic Syndrome
Hypoalbuminemia, Irritability ORPHA:656
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Hypoalbuminemia, Thrombocytopenia, Normochromic anemia, Mental deterioration OMIM:254900
Bacterial Toxic-Shock Syndrome
Myocarditis, Hypocalcemia, Confusion, Increased circulating myelocyte count, Elevated circulating... ORPHA:36234
Aicardi-Goutieres Syndrome 9
Irritability, Hepatomegaly, Anemia, Pericarditis, Pericardial effusion, Hepatosplenomegaly, Left ... OMIM:619487
Immunodeficiency 52
Abnormal natural killer cell count, T lymphocytopenia, Splenomegaly, Abnormal B cell count, Lymph... OMIM:617514
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Hypoalbuminemia, Hypercholesterolemia, Elevated circulating creatine kinase concentration, Elevat... ORPHA:64753
Megaloblastic Anemia, Folate-Responsive
Increased circulating ferritin concentration, Hyperhomocystinemia, Folate-responsive megaloblasti... OMIM:601775
Attrv122I Amyloidosis
Anemia, Increased circulating NT-proBNP concentration, Cardiac amyloidosis, Restrictive cardiomyo... ORPHA:85451
Fanconi Anemia, Complementation Group V
Thrombocytopenia, Anemia, Elevated circulating alpha-fetoprotein concentration, Neutropenia OMIM:617243
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Autoimmune hemolytic anemia, Splenomegaly, Lymphopenia, Autoimmune thrombocytopenia, Hemolytic an... ORPHA:444463
Disabling Pansclerotic Morphea Of Childhood
Neutropenia, Elevated circulating C-reactive protein concentration, Lymphopenia OMIM:620443
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Hepatomegaly, Elevated circulating creatine kinase concentration, Hyperammonemia, Cardiomegaly, D... OMIM:600649
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Hypertriglyceridemia, Increased circulating ferritin concentration, Impaired lymphocyte transform... OMIM:619313
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Enlarged kidney, Hepatomegaly, Anemia, Thrombocytopenia, Splenomegaly, Leukopenia, Extramedullary... OMIM:615285
Juvenile Polyposis Syndrome
Hypoalbuminemia, Anemia, Hypokalemia OMIM:174900
Nephrotic Syndrome, Type 8
Hypoalbuminemia OMIM:615244
Liver Disease, Severe Congenital
Left atrial enlargement, Lymphocytosis, Hypoproteinemia, Hyperammonemia, Leukopenia, Splenomegaly... OMIM:619991
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Anemia, Decreased circulating carnitine concentration, Depression, Decreased circulating iron con... ORPHA:89842
Immunodeficiency 97 With Autoinflammation
Autoimmune hemolytic anemia, Hypertriglyceridemia, Increased circulating ferritin concentration, ... OMIM:619802
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Hypochromic microcytic anemia, HbS hemoglobin, Splenic infarction, Persistence of hemoglobin F, R... ORPHA:251380
Gaisböck Syndrome
Hypertriglyceridemia, Increased red blood cell count, Elevated plasma cell count, Increased mean ... ORPHA:90041
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Increased serum bile acid concentration, Hypoalbuminemia, Decreased circulating ceruloplasmin con... OMIM:242150
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Macrocytic anemia, Pancytopenia, Hypersegmentation of neutrophil nuclei, Hyperhomocystinemia, Meg... OMIM:617780
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Autoimmune hemolytic anemia, Iron deficiency anemia, Reduced proportion of CD4-negative, CD8-nega... ORPHA:37042
Immunodeficiency 114, Folate-Responsive
Hypertriglyceridemia, Hepatomegaly, Megaloblastic anemia, Thrombocytopenia, Splenomegaly, Lymphop... OMIM:620603
Infantile Sialic Acid Storage Disease
Hepatomegaly, Vacuolated lymphocytes, Splenomegaly, Conjugated hyperbilirubinemia, Cardiomegaly OMIM:269920
Specific Granule Deficiency 1
Abnormal neutrophil count, Hyposegmentation of neutrophil nuclei, Impaired neutrophil bactericida... OMIM:245480
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
Anisocytosis, Hepatomegaly OMIM:604273
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Normochromic anemia, Pancytopenia, Anemi... ORPHA:75564
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hepatomegaly, Hyperbilirubinemia, Thrombocytopenia, Splenomegaly, Elevated circulating alpha-feto... OMIM:251880
Alpha-Thalassemia
Anisopoikilocytosis, Hemoglobin Barts, Anemia, Reticulocytosis, Cognitive impairment, Pericardial... ORPHA:846
Congenital Toxoplasmosis
Hepatomegaly, Anemia, Cognitive impairment, Thrombocytopenia, Cardiomegaly ORPHA:858
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Anemia, Thrombocytosis, Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monoc... OMIM:202700
Congenital Disorder Of Glycosylation, Type Ib
Hypoalbuminemia, Hepatomegaly OMIM:602579
Mitochondrial Complex I Deficiency, Nuclear Type 39
Perimembranous ventricular septal defect, Anemia, Hypertrophic cardiomyopathy, Cardiomegaly, Atri... OMIM:620135
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypertriglyceridemia, Hypoalbuminemia, Hypercholesterolemia, Abnormal circulating lipid concentra... ORPHA:567548
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Hypertriglyceridemia, Increased circulating ferritin concentration, Anemia, Acute myeloid leukemi... ORPHA:158057
Carnitine Deficiency, Systemic Primary
Hepatomegaly, Decreased circulating carnitine concentration, Confusion, Cardiomyopathy, Elevated ... OMIM:212140
Phoar2-Enteropathy Syndrome
Hypoalbuminemia OMIM:614441
Abetalipoproteinemia
Decreased HDL cholesterol concentration, Hepatomegaly, Anemia, Hypotriglyceridemia, Hyperbilirubi... ORPHA:14
Trichohepatoenteric Syndrome 1
Abnormality of iron homeostasis, Hepatomegaly, Hypergalactosemia, Ventricular septal defect, Cogn... OMIM:222470
Multiple Myeloma
Anemia, Hypercalcemia, Splenomegaly, Hyperproteinemia, Elevated circulating creatinine concentration ORPHA:29073
Reticular Dysgenesis
Congenital agranulocytosis, Leukopenia, Hypoplasia of the thymus, Lymphopenia OMIM:267500
Immunodeficiency 105
Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, B lymphocytopenia, Incr... OMIM:619924
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Autoimmune hemolytic anemia, Plasmacytosis, Lymphopenia OMIM:247800
Neutropenia, Severe Congenital, 10, Autosomal Recessive
Anorectal abscess, Anemia, Thrombocytopenia, Monocytosis, Neutropenia OMIM:620534
Immunodeficiency 21
Aplastic anemia, Anemia, Neutropenia, B lymphocytopenia, Lymphopenia, Monocytopenia, Reduced natu... OMIM:614172
Alpha-Thalassemia Myelodysplasia Syndrome
HbH hemoglobin, Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio OMIM:300448
Immunodeficiency 18
Decreased proportion of CD3-positive T cells, Abnormal lymphocyte count, Abnormal B cell count, L... OMIM:615615
Ras-Associated Autoimmune Leukoproliferative Disorder
Hepatomegaly, Pancytopenia, Lymphocytosis, Splenomegaly, Hemolytic anemia, Autoimmune thrombocyto... OMIM:614470
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Enlarged kidney, Anemia, Patent foramen ovale, Hypertrophic cardiomyopathy, Abnormal heart morpho... ORPHA:505248
Cernunnos-Xlf Deficiency
Anemia, B lymphocytopenia, T lymphocytopenia, Thrombocytopenia, Lymphopenia ORPHA:169079
Combined Oxidative Phosphorylation Deficiency 37
Hypoalbuminemia, Hypertrophic cardiomyopathy, Hyperalaninemia, Progressive neurologic deterioration OMIM:618329
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Liver abscess, Anemia, Elevated circulating C-reactive protein concentration, Neutrophilia, Brain... ORPHA:54251
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature
Anemia, Reduced haptoglobin level, Schistocytosis, Leukopenia, Thrombocytopenia, Lymphopenia, Ele... OMIM:301110
Diabetes Mellitus, Permanent Neonatal, 4
Elevated hemoglobin A1c, Reduced C-peptide level OMIM:618858
Congenital Erythropoietic Porphyria
Increased erythrocyte protoporphyrin concentration, Reduced haptoglobin level, Reticulocytosis, P... ORPHA:79277
Mitochondrial Complex I Deficiency, Nuclear Type 36
Cardiomegaly, Perimembranous ventricular septal defect, Hyperprolinemia, Hyperalaninemia OMIM:619170
Uruguay Faciocardiomusculoskeletal Syndrome
Left atrial enlargement, Ventricular hypertrophy, Cardiomyopathy, Elevated circulating creatine k... OMIM:300280
Congenital Disorder Of Glycosylation, Type Ia
Hepatomegaly, Cardiomyopathy, Pericarditis, Pericardial effusion, Hypoalbuminemia, Hypocholestero... OMIM:212065
Bone Marrow Failure Syndrome 6
Anemia, Increased mean corpuscular volume, Persistence of hemoglobin F, Lymphopenia, Neutropenia OMIM:618849
Relapsing Fever
Anemia, Elevated circulating C-reactive protein concentration, Leukocytosis, Increased total bili... ORPHA:91547
Marburg Hemorrhagic Fever
Hypokalemia, Neutrophilia in presence of infection, Confusion, Abnormal lymphocyte morphology, Hy... ORPHA:99826
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Pulmonic stenosis, Hypernatremia, Hypoalbuminemia, Multiple muscular ventricular septal defects OMIM:615508
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Ventricular hypertrophy, Hyperalaninemia, Hypertrophic cardiomyopathy, Hyperammonemia, Cardiomega... OMIM:619051
Juvenile Polyposis Of Infancy
Anemia, Abnormal heart morphology, Hypoalbuminemia, Atrial septal defect, Refractory anemia ORPHA:79076
Anemia, Sideroblastic, 5
Reduced hematocrit, Hypochromic microcytic anemia, Anemia, Thrombocytopenia, Neutropenia OMIM:619523
Secondary Intestinal Lymphangiectasia
Decreased circulating prealbumin concentration, Lymphopenia, Reduced circulating transferrin conc... ORPHA:90363
Diabetes Mellitus, Transient Neonatal, 3
Elevated hemoglobin A1c, Reduced C-peptide level OMIM:610582
Alg12-Cdg
Muscular ventricular septal defect, B lymphocytopenia, Patent foramen ovale, Hyponatremia, Thromb... ORPHA:79324
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Hypoplasia of the thymus, Lymphopenia OMIM:200900
Hb Bart'S Hydrops Fetalis
Hepatomegaly, Anemia, Pericarditis, Splenomegaly, Abnormal hemoglobin ORPHA:163596
Immunodeficiency 76
B lymphocytopenia, Lymphopenia, Splenomegaly, T lymphocytopenia OMIM:619164
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Anemia, Acute myeloid leukemia, Pancytopenia, Increased mean corpuscular volume, Thrombocytopenia... OMIM:619041
Hemochromatosis, Type 1
Hepatomegaly, Cardiomyopathy, Increased circulating iron concentration, Splenomegaly, Cardiomegal... OMIM:235200
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Elevated circulating creatinine concentration, Hyperuricemia, Anemia, Neutropenia OMIM:617056
Insulin-Resistance Syndrome Type B
Abnormal circulating lipid concentration, Hypotriglyceridemia, Enlarged polycystic ovaries, Throm... ORPHA:2298
Kawasaki Disease
Myocarditis, Irritability, Elevated circulating C-reactive protein concentration, Abnormal heart ... ORPHA:2331
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Hyperammonemia, Hypoalbuminemia, Conjugated hyperbilirubinemia, Decreased serum zinc OMIM:617093
Diarrhea 10, Protein-Losing Enteropathy Type
Hypertriglyceridemia, Hypocalcemia, Hyponatremia, Pericardial effusion, Hypomagnesemia, Hypoalbum... OMIM:618183
Wilson Disease
Hepatomegaly, Anemia, Decreased circulating ceruloplasmin concentration, Dementia, Hypouricemia, ... OMIM:277900
Diamond-Blackfan Anemia 4
Erythroid hypoplasia, Macrocytic anemia, Reticulocytopenia, Atrial septal defect, Neutropenia OMIM:612527
Sickle Cell Anemia
Chronic hemolytic anemia, Iron deficiency anemia, Increased mean corpuscular volume, Leukocytosis... ORPHA:232
Beta-Thalassemia Intermedia
Abnormality of iron homeostasis, Hepatomegaly, Anemia of inadequate production, Leukocytosis, Per... ORPHA:231222
Diamond-Blackfan Anemia 3
Elevated red cell adenosine deaminase activity, Macrocytic anemia, Increased mean corpuscular vol... OMIM:610629
Transcobalamin Deficiency
Neutropenia, Lymphopenia, Thrombocytopenia, Pancytopenia ORPHA:859
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Cardiomegaly, Hyperprolinemia, Hyperalaninemia, Hepatomegaly OMIM:619064
Diamond-Blackfan Anemia 6
Macrocytic anemia, Increased mean corpuscular volume, Ventricular hypertrophy, Persistence of hem... OMIM:612561
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Hypoalbuminemia, Elevated circulating creatine kinase concentration OMIM:619055
Immunodeficiency 91 And Hyperinflammation
Hepatomegaly, Hemophagocytosis, Elevated circulating C-reactive protein concentration, Neutrophil... OMIM:619644
Immunodeficiency 82 With Systemic Inflammation
Anemia, Elevated circulating C-reactive protein concentration, B lymphocytopenia, Decreased propo... OMIM:619381
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Elevated circulating creatine kinase concentration, Hyperammonemia, Cardiomegaly, D... ORPHA:42
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Eosinophilia, Lymphopenia ORPHA:2582
Neutropenia, Severe Congenital, 2, Autosomal Dominant
B lymphocytopenia, Monocytosis, Neutropenia OMIM:613107
Combined Oxidative Phosphorylation Deficiency 10
Hyperalaninemia, Hypertrophic cardiomyopathy, Hyperammonemia, Pericardial effusion, Cardiomegaly OMIM:614702
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Pericardial lymphangiectasia, Pericardial effusion, Hypoalbuminemia, Atrial septal defect, Ventri... OMIM:235510
Cirrhotic Cardiomyopathy
Left atrial enlargement, Abnormal circulating B-type natriuretic peptide concentration, Hepatomeg... ORPHA:57777
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Increased mean corpuscular volume, Persistence of hemoglobin F, Elevated red cell adenosine deami... OMIM:300946
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Hypoalbuminemia, Anemia ORPHA:79396
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatomegaly, Decreased circulating carnitine concentration, Elevated circulating creatine kinase... OMIM:201475
Herpes Simplex Virus Encephalitis
Hyponatremia, Neutrophilia, Leukocytosis, Elevated circulating C-reactive protein concentration ORPHA:1930
Cryptogenic Organizing Pneumonia
Neutrophilia, Leukocytosis, Elevated circulating C-reactive protein concentration ORPHA:1302
Primary Biliary Cholangitis
Abnormal circulating lipid concentration, Hepatomegaly, Splenomegaly, Conjugated hyperbilirubinem... ORPHA:186
Transcobalamin Ii Deficiency
Irritability, Hepatomegaly, Anemia, Erythroid hypoplasia, Macrocytic anemia, Pancytopenia, Hyperh... OMIM:275350
Psoriasis 14, Pustular
Neutrophilia, Leukocytosis, Elevated circulating C-reactive protein concentration OMIM:614204
Aregenerative Anemia
Erythroid hypoplasia, Pancytopenia, Depression, Abnormal proportion of CD8-positive T cells, Emot... ORPHA:101096
Carnitine Palmitoyltransferase I Deficiency
Hepatomegaly, Transient hyperlipidemia, Elevated circulating creatine kinase concentration, Hyper... OMIM:255120
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hypertyrosinemia, Hyperbilirubinemia, Conjugated hyperbilirubinemia, Hypoalbuminemia, Hypermethio... OMIM:617156
Beta-Thalassemia Major
Anisopoikilocytosis, Irritability, Abnormality of iron homeostasis, Hypochromic microcytic anemia... ORPHA:231214
Thrombocytopenia 5
Anemia, Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Thrombocytopenia, Neut... OMIM:616216
Neuraminidase Deficiency
Hepatomegaly, Vacuolated lymphocytes, Bone-marrow foam cells, Cardiomyopathy, Splenomegaly, Cardi... OMIM:256550
Staphylococcal Necrotizing Pneumonia
Elevated circulating C-reactive protein concentration, Confusion, Leukocytosis, Neutrophilia, Leu... ORPHA:36238
Immunodeficiency 13
B lymphocytopenia, T lymphocytopenia, Decreased proportion of CD4-positive helper T cells, Lympho... OMIM:615518
Maturity-Onset Diabetes Of The Young, Type 14
Elevated hemoglobin A1c OMIM:616511
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Decreased proportion of CD8-positive T cells, Decreased proportion of CD3-positive T cells, Lymph... ORPHA:169154
Adult-Onset Still Disease
Abnormal circulating lipid concentration, Myocarditis, Hepatomegaly, Anemia, Elevated circulating... ORPHA:829
Immunodeficiency 14B, Autosomal Recessive
Monocytosis, B lymphocytopenia, Leukocytosis, Neutrophilia, Thrombocytosis OMIM:619281
Xfe Progeroid Syndrome
Hypoalbuminemia OMIM:610965
Pierson Syndrome
Hypoproteinemia OMIM:609049
Danon Disease
Myocardial necrosis, Elevated circulating creatine kinase concentration, Hypertrophic cardiomyopa... OMIM:300257
Juvenile Polyposis Syndrome
Hypoproteinemia, Anemia, Brain abscess ORPHA:2929
Combined Oxidative Phosphorylation Deficiency 33
Hepatomegaly, Cardiomyopathy, Elevated circulating creatine kinase concentration, Left ventricula... OMIM:617713
Purine Nucleoside Phosphorylase Deficiency
Abnormal T cell morphology, Autoimmune hemolytic anemia, Decreased proportion of CD3-positive T c... ORPHA:760
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Pancytopenia, B lymphocytopenia, T lymphocytopenia, Leukopenia, Hepatosplenomegaly, Lymphopenia, ... OMIM:618986
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Hepatomegaly, Leukopenia, Splenomegaly, Lymphopenia, Ventricular septal defect OMIM:620210
Galloway-Mowat Syndrome 3
Hypoalbuminemia OMIM:617729
Ziegler-Huang Syndrome
Persistence of hemoglobin F, Macrocytic anemia, Neutropenia OMIM:620501
Sickle Cell Disease
Hepatomegaly, Splenic infarction, Leukocytosis, Target cells, Splenomegaly, Cardiomegaly, Increas... OMIM:603903
Systemic Lupus Erythematosus 17
Thrombocytopenia, Autoimmune thrombocytopenia, Leukopenia, Lymphopenia OMIM:301080
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Macrocytic anemia, Rectal abscess, Reduction of neutrophil motility, Leukocytosis, Neutrophilia, ... OMIM:608203
Primary Familial Polycythemia
Polycythemia, Abnormal hemoglobin ORPHA:90042
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Elevated circulating C-reactive protein concentration, Neutrophilia, Leukocytosis, Increased prop... OMIM:617099
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Hypoalbuminemia, Hyperlipidemia ORPHA:567546
Tropical Endomyocardial Fibrosis
Left atrial enlargement, Endocardial fibrosis, Hepatomegaly, Right ventricular cardiomyopathy, Re... ORPHA:75565
Beta-Thalassemia
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Alpha-Thalassemia
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio OMIM:604131
Primary Sclerosing Cholangitis
Hepatomegaly, Depression, Hepatosplenomegaly, Splenomegaly, Hypoalbuminemia ORPHA:171
Rajab Interstitial Lung Disease With Brain Calcifications 1
Anemia, Pancytopenia, Hypocalcemia, Unconjugated hyperbilirubinemia, Hypoalbuminemia OMIM:613658
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Decreased proportion of CD4+CD25+ regulatory T cells, Autoimmune thrombocytopenia, Lymphopenia, D... OMIM:619846
Purine Nucleoside Phosphorylase Deficiency
Autoimmune hemolytic anemia, Hypouricemia, Neutropenia in presence of anti-neutropil antibodies, ... OMIM:613179
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Thrombocytopenia, Hemolytic anemia, Lymphopenia OMIM:616744
Mucopolysaccharidosis, Type Iiib
Hepatomegaly, Asymmetric septal hypertrophy, Splenomegaly, Progressive neurologic deterioration, ... OMIM:252920
Lead Poisoning
Abnormal T cell morphology, Decreased HDL cholesterol concentration, Anemia, Memory impairment, D... ORPHA:330015
Immunodeficiency 113 With Autoimmunity And Autoinflammation
Autoimmune hemolytic anemia, Hepatomegaly, Elevated circulating C-reactive protein concentration,... OMIM:620565
Glycogen Storage Disease Ii
Hepatomegaly, Increased circulating NT-proBNP concentration, Elevated circulating creatine kinase... OMIM:232300
Long-Olsen-Distelmaier Syndrome
Hyperammonemia, Secundum atrial septal defect, Cardiomegaly, Dilated cardiomyopathy, Ventricular ... OMIM:620609
Congenital Myopathy 8
Cardiomegaly OMIM:618654
Combined Oxidative Phosphorylation Deficiency 8
Cardiomegaly, Hypertrophic cardiomyopathy OMIM:614096
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Hepatomegaly, Elevated circulating C-reactive protein concentration, Neutrophilia, Splenomegaly, ... OMIM:612852
Adult Idiopathic Neutropenia
Monocytopenia, Monocytosis, Neutropenia, Lymphopenia ORPHA:2688
Galloway-Mowat Syndrome 1
Hypoalbuminemia OMIM:251300
Sneddon Syndrome
Bicuspid aortic valve, Mental deterioration, Lymphopenia OMIM:182410
Deafness-Lymphedema-Leukemia Syndrome
Acute leukemia, Hepatomegaly, Abnormal neutrophil count, Myeloproliferative disorder, Leukocytosi... ORPHA:3226
Timothy Syndrome
Hypocalcemia, Patent foramen ovale, Tetralogy of Fallot, Cardiomegaly, Ventricular septal defect OMIM:601005
Symptomatic Form Of Hfe-Related Hemochromatosis
Abnormality of iron homeostasis, Hepatomegaly, Cardiomegaly, Cardiomyopathy, Splenomegaly, Elevat... ORPHA:465508
Cardiomyopathy, Familial Hypertrophic, 27
Ventricular septal hypertrophy, Concentric hypertrophic cardiomyopathy, Hypertrophic cardiomyopat... OMIM:618052
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Autoimmune hemolytic anemia, Hepatomegaly, Abnormal natural killer cell count, Decreased proporti... ORPHA:331206
Congenital Disorder Of Glycosylation, Type Iic
Reduction of neutrophil motility, Neutrophilia OMIM:266265
Sweet Syndrome
Anemia, Acute myeloid leukemia, Elevated circulating C-reactive protein concentration, Chronic ly... ORPHA:3243
Sting-Associated Vasculopathy, Infantile-Onset
Anemia, Elevated circulating C-reactive protein concentration, Leukopenia, Lymphopenia, Thrombocy... OMIM:615934
Leptospirosis
Pericarditis, Hepatomegaly, Thrombocytopenia, Hyperproteinemia ORPHA:509
Refsum Disease, Classic
Elevated circulating phytanic acid concentration, Cardiomyopathy, Cardiomegaly OMIM:266500
Immunodeficiency 110 With Lymphoproliferation
Autoimmune hemolytic anemia, Patent foramen ovale, Secundum atrial septal defect, Lymphopenia, Ne... OMIM:614868
Hereditary Methemoglobinemia
Methemoglobinemia ORPHA:621
Autosomal Dominant Severe Congenital Neutropenia
Aplastic anemia, Acute myeloid leukemia, Acute lymphoblastic leukemia, Lymphopenia, Eosinophilia,... ORPHA:486
Proteasome-Associated Autoinflammatory Syndrome 3
Hypertriglyceridemia, Hepatomegaly, Anemia, Thrombocytopenia, Splenomegaly, Lymphopenia OMIM:617591
Idiopathic Pulmonary Hemosiderosis
Cardiomegaly, Hepatomegaly, Hepatosplenomegaly, Iron deficiency anemia ORPHA:99931
Hsd10 Disease, Infantile Type
Cardiomegaly, Hyperammonemia, Hypertrophic cardiomyopathy ORPHA:391428
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal ventriculoarterial connection, Hepatomegaly, Ventricular septal defect, Anomalous pulmon... ORPHA:860
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hepatomegaly, Hyperlipidemia, Elevated circulating creatine kinase concentration, Cardiomyopathy,... ORPHA:228308
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Enlarged kidney, Hepatomegaly, Elevated circulating long chain fatty acid concentration, Elevated... OMIM:608836
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Normochromic anemia, Chronic lymphatic l... ORPHA:98849
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly OMIM:613576
Attrv30M Amyloidosis
Cardiomegaly, Cardiomyopathy ORPHA:85447
Immunodeficiency 36 With Lymphoproliferation
Chronic lymphatic leukemia, B lymphocytopenia, Increased proportion of transitional B cells, Decr... OMIM:616005
Acquired Methemoglobinemia
Confusion, Methemoglobinemia ORPHA:464453
Smith-Lemli-Opitz Syndrome
Atrial septal defect, Hepatomegaly, Hypertrophic cardiomyopathy, Elevated circulating 7-dehydroch... OMIM:270400
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Cardiomegaly, Elevated circulating creatine kinase concentration, Right ventricular hypertrophy ORPHA:268
Neurodegeneration And Seizures Due To Copper Transport Defect
Cardiomegaly, Abnormal circulating ceruloplasmin concentration, Abnormal circulating copper conce... OMIM:620306
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Hepatomegaly, Elevated circulating creatine kinase concentration, Hypertrophic cardiomyopathy, Le... ORPHA:308552
Immunodeficiency 85 And Autoimmunity
T lymphocytopenia, Decreased proportion of CD4-positive helper T cells, Lymphopenia, Decreased pr... OMIM:619510
Familial Mediterranean Fever
Hepatomegaly, Elevated circulating C-reactive protein concentration, Leukocytosis, Pericarditis, ... OMIM:249100
Mulibrey Nanism
Cardiomegaly, Hepatomegaly, Myocardial fibrosis, Pericardial constriction OMIM:253250
Immunodeficiency 49
Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, Decreased proporti... OMIM:617237
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Polycythemia, Methemoglobinemia OMIM:250800
Trichothiodystrophy 6, Nonphotosensitive
Increased HbA2 hemoglobin, Decreased mean corpuscular volume OMIM:616943
Biliary, Renal, Neurologic, And Skeletal Syndrome
Situs inversus totalis, Atrioventricular canal defect, Inlet ventricular septal defect, Dextrocar... OMIM:619534
Autoinflammatory Disease, Systemic, With Vasculitis
Hepatomegaly, Anemia, Elevated circulating C-reactive protein concentration, Increased B cell cou... OMIM:620376
Shwachman-Diamond Syndrome 1
Hepatomegaly, Anemia, Acute myeloid leukemia, Pancytopenia, Myocardial necrosis, Persistence of h... OMIM:260400
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly OMIM:300886
Neurooculocardiogenitourinary Syndrome
Cardiomegaly, Atrial septal defect, Patent foramen ovale, Ventricular septal defect OMIM:618652
Familial Atrial Myxoma
Cardiomegaly, Bacterial endocarditis, Pulmonic valve myxoma, Cardiac myxoma ORPHA:615
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Perianal abscess, Granuloma, Hepatosplenomegaly, Splenomegaly, Abscess, Lymphopenia, Impaired oxi... OMIM:618935
Gaucher Disease, Type Iiic
Hepatomegaly, Pancytopenia, Mitral valve calcification, Mitral stenosis, Splenomegaly, Aortic val... OMIM:231005
Pgm3-Cdg
Decreased proportion of CD3-positive T cells, Neutropenia in presence of anti-neutropil antibodie... ORPHA:443811
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
HbH hemoglobin, Microcytic anemia ORPHA:98791
Epidermodysplasia Verruciformis, Susceptibility To, 5
Lymphopenia, T lymphocytopenia OMIM:618309
Diamond-Blackfan Anemia
Elevated red cell adenosine deaminase activity, Acute myeloid leukemia, Normochromic anemia, Eryt... ORPHA:124
Congenital Disorder Of Glycosylation, Type It
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Dilated cardiomyo... OMIM:614921
Lujo Hemorrhagic Fever
Myocarditis, Elevated circulating C-reactive protein concentration, Confusion, Leukocytosis, Thro... ORPHA:319213
Mirage Syndrome
Hyperkalemia, Anemia, Hyponatremia, Hypoplastic spleen, Thrombocytopenia, Leukopenia, Lymphopenia OMIM:617053
Gaucher Disease, Perinatal Lethal
Hepatomegaly, Anemia, Thrombocytopenia, Hepatosplenomegaly, Splenomegaly, Progressive neurologic ... OMIM:608013
Arterial Calcification, Generalized, Of Infancy, 2
Cardiomegaly, Hypophosphatemic rickets, Right atrial enlargement OMIM:614473
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Atrial septal defect, Ventricular septal defect, Persistence of hemoglobin F OMIM:619769
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Decreased proportion of CD3-positive T cells, Eosinophilia, Hepatosplenomegaly, Lymphopenia ORPHA:169160
Ciliary Dyskinesia, Primary, 53
Situs inversus totalis, Perimembranous ventricular septal defect, Patent foramen ovale, Common at... OMIM:620642
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Hepatomegaly, Decreased proportion of CD3-positive T cells, Decreased proportion of naive T cells... ORPHA:276
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Reduced natural killer cell count, Neutropenia, Cutaneous abscess, Lymphopenia OMIM:619752
Legionnaires Disease
Myocarditis, Hyponatremia, Pericarditis, Splenomegaly, Lymphopenia, Endocarditis ORPHA:549
Fixed Subaortic Stenosis
Atrioventricular canal defect, Cardiomegaly, Bacterial endocarditis, Pulmonic stenosis, Abnormal ... ORPHA:3092
Immunodeficiency 87 And Autoimmunity
Autoimmune hemolytic anemia, Hypertriglyceridemia, Atrial septal defect, Atrioventricular canal d... OMIM:619573
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Hepatomegaly, Anemia, Elevated circulating C-reactive protein concentration, Pancytopenia, Leukoc... OMIM:615688
Beck-Fahrner Syndrome
Depression, Attention deficit hyperactivity disorder, Ventricular septal defect, Cardiomegaly OMIM:618798
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Perianal abscess, Hepatomegaly, Anemia, Erythroid hypoplasia, Hypoplasia of the thymus, Pulmonic ... OMIM:612541
Cantu Syndrome
Cardiomegaly, Bicuspid aortic valve, Pericardial effusion, Congenital hypertrophy of left ventricle OMIM:239850
T-Cell Immunodeficiency With Thymic Aplasia
Aplasia of the thymus, T lymphocytopenia, Hepatosplenomegaly, Lymphopenia, Abnormally low T cell ... OMIM:242700
Vici Syndrome
Atrial septal defect, Cardiomyopathy, Elevated circulating creatine kinase concentration, T lymph... OMIM:242840
Short Stature, Microcephaly, And Endocrine Dysfunction
Abnormal circulating lipid concentration, Anemia, Cognitive impairment, Lymphopenia, Dilated card... OMIM:616541
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Hepatomegaly, Aplasia of the thymus, B lymphocytopenia, Splenomegaly, Lymphopenia, Abnormally low... OMIM:602450
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Anemia, B lymphocytopenia, Noncompaction cardiomyopathy, Reticulocytopenia, Leukopenia, Thrombocy... ORPHA:508542
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Autoimmune hemolytic anemia, Hepatomegaly, Splenomegaly, Lymphopenia, Autoimmune thrombocytopenia OMIM:616100
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular septal hypertrophy, Muscular ventricular septal defect, Hepatomegaly, Ventricular hyp... OMIM:115197
Icf Syndrome
Abnormality of neutrophils, Anemia, Lymphopenia ORPHA:2268
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6
Abnormally low T cell receptor excision circle level, Lymphopenia, Pancytopenia OMIM:619767
Alpha-N-Acetylgalactosaminidase Deficiency
Cardiomegaly ORPHA:3137
Bone Marrow Failure Syndrome 3
Aplastic anemia, Anemia, Acute myeloid leukemia, Pancytopenia, Increased mean corpuscular volume,... OMIM:617052
Congenital Tricuspid Valve Dysplasia
Tricuspid valve prolapse, Hepatomegaly, Abnormal tricuspid valve annulus morphology, Patent foram... ORPHA:555874
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin
Persistence of hemoglobin F OMIM:617101
Heterotaxy, Visceral, 1, X-Linked
Enlarged kidney, Pulmonic stenosis, Cardiomegaly, Right atrial isomerism, Transposition of the gr... OMIM:306955
Sandhoff Disease
Cardiomegaly, Hepatomegaly, Hepatosplenomegaly, Progressive psychomotor deterioration OMIM:268800
Ataxia-Telangiectasia
Hypoplasia of the thymus, T lymphocytopenia, Acute lymphoblastic leukemia, Decreased proportion o... OMIM:208900
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7
Thrombocytopenia, Anemia, Lymphopenia OMIM:620365
Coronary Arterial Fistula
Atrial septal defect, Cardiomegaly, Bacterial endocarditis, Patent foramen ovale, Aortic valve st... ORPHA:2041
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Autoimmune hemolytic anemia, Reduced red cell adenosine deaminase level, Hepatomegaly, B lymphocy... OMIM:102700
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Autoimmune hemolytic anemia, Impaired lymphocyte transformation with phytohemagglutinin, Ventricu... OMIM:243150
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Cardiomegaly, Ventricular septal defect, Hypertrophic cardiomyopathy OMIM:616897
Mogs-Cdg
Hepatomegaly, Thrombocytopenia, Hepatosplenomegaly, Left ventricular hypertrophy, Cardiomegaly, A... ORPHA:79330
Methemoglobinemia And Ambiguous Genitalia
Methemoglobinemia OMIM:250790
Amyloidosis, Hereditary, Transthyretin-Related
Cardiomegaly, Confusion, Cardiomyopathy, Dementia OMIM:105210
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Hypoalbuminemia OMIM:614748
Syndromic Diarrhea
Abnormality of iron homeostasis, Hepatomegaly, Ventricular septal defect, Hypoplasia of the thymu... ORPHA:84064
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Aortic valve stenosis, Abnormal atrioventricular valve morphology, Cardiomegaly, Mitral valve pro... ORPHA:324410
Thymoma
Aplastic anemia, Pure red cell aplasia, Imbalanced hemoglobin synthesis, Leukemia ORPHA:99867
Diamond-Blackfan Anemia 1
Elevated red cell adenosine deaminase activity, Macrocytic anemia, Increased mean corpuscular vol... OMIM:105650
Fucosidosis
Hepatomegaly, Vacuolated lymphocytes, Splenomegaly, Cardiomegaly, Mental deterioration OMIM:230000
Mucolipidosis Ii Alpha/Beta
Enlarged kidney, Hepatomegaly, Increased serum beta-hexosaminidase, Hypertrophic cardiomyopathy, ... OMIM:252500
Isolated Right Ventricular Hypoplasia
Muscular ventricular septal defect, Patent foramen ovale, Right atrial enlargement, Cardiomegaly,... ORPHA:439
Craniofaciofrontodigital Syndrome
Cardiomegaly, Abnormal heart valve morphology, Aortic valve stenosis, Pericardial effusion, Bicus... ORPHA:363705
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Cardiomegaly OMIM:613320
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Depression, Anemia, Abnormal hemoglobin ORPHA:847
Histiocytosis-Lymphadenopathy Plus Syndrome
Hepatomegaly, Pulmonic stenosis, Hepatosplenomegaly, Splenomegaly, Mitral valve prolapse, Cardiom... OMIM:602782
Glycogen Storage Disease Due To Acid Maltase Deficiency
Hepatomegaly, Elevated circulating creatine kinase concentration, Hypertrophic cardiomyopathy, Co... ORPHA:365
Autoimmune Lymphoproliferative Syndrome
Autoimmune hemolytic anemia, Hepatomegaly, Lymphocytosis, Neutropenia in presence of anti-neutrop... ORPHA:3261
Arterial Calcification, Generalized, Of Infancy, 1
Cardiomegaly, Dilated cardiomyopathy, Hypophosphatemic rickets OMIM:208000
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Cognitive impairment, Anemia, Lymphopenia ORPHA:935
Dyskeratosis Congenita, Autosomal Dominant 1
Aplastic anemia, Anemia, Increased mean corpuscular volume, Leukopenia, Thrombocytopenia, Lymphop... OMIM:127550
Lethal Congenital Contracture Syndrome 10
Cardiomegaly, Overriding aorta, Ventricular septal defect, Hypoplasia of the thymus OMIM:617022
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Depression, Cardiomyopathy, Cardiomegaly OMIM:619259
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
HbH hemoglobin, Perimembranous ventricular septal defect, Hypochromic microcytic anemia, Reduced ... OMIM:301040
Ogden Syndrome
Left atrial enlargement, Irritability, Perimembranous ventricular septal defect, Enlarged kidney,... OMIM:300855
Idiopathic Hypereosinophilic Syndrome
Anemia, Memory impairment, Myocardial eosinophilic infiltration, Confusion, Myeloproliferative di... ORPHA:3260
Aorta Coarctation
Perimembranous ventricular septal defect, Cardiomegaly, Abnormal left ventricular outflow tract m... ORPHA:1457
Reynolds Syndrome
Calcinosis, Hepatomegaly, Hyperbilirubinemia, Splenomegaly, Lymphopenia OMIM:613471
Proteasome-Associated Autoinflammatory Syndrome 1
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hepatomegaly, Elevated circulating... OMIM:256040
Acute Generalized Exanthematous Pustulosis
Eosinophilia, Neutrophilia, Leukocytosis, Neutropenia ORPHA:293173
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Absent natural killer cells, Lymphopenia, Impaired lymphocyte transformation with phytohemaggluti... OMIM:600802
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Impaired lymphocyte transformation with phytohemagglutinin, B lymphocytopenia, T lymphocytopenia,... ORPHA:35078
Mucopolysaccharidosis Type 3
Abnormal aortic valve morphology, Hepatomegaly, Dementia, Abnormal mitral valve morphology, Abnor... ORPHA:581
Immunodeficiency 55
Absent natural killer cells, Neutropenia, Lymphopenia OMIM:617827
Complete Atrioventricular Septal Defect
Displacement of the papillary muscles, Hepatomegaly, Primum atrial septal defect, Right ventricul... ORPHA:1329
Yellow Fever
Hyperbilirubinemia, Elevated circulating creatine kinase concentration, Leukocytosis, Neutrophili... ORPHA:99829
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Bicuspid aortic valve, Patent foramen ovale, Mitral valve prolapse, Left ventricular hypertrophy,... OMIM:245600
Familial Aortic Dissection
Cardiomegaly ORPHA:229
Pneumocystosis
Abnormal neutrophil count ORPHA:723
Crimean-Congo Hemorrhagic Fever
Myocarditis, Hepatomegaly, Pancytopenia, Emotional lability, Confusion, Leukocytosis, Elevated ci... ORPHA:99827
Wiskott-Aldrich Syndrome
Acute leukemia, Anemia, Abnormal eosinophil morphology, Hypoplasia of the thymus, Abnormal platel... ORPHA:906
Fucosidosis
Cardiomegaly, Hepatomegaly ORPHA:349
Pmm2-Cdg
Reduced thyroxin-binding globulin, Hypertrophic cardiomyopathy, Pericardial effusion, Pericarditi... ORPHA:79318
Wiskott-Aldrich Syndrome
Autoimmune hemolytic anemia, Impaired lymphocyte transformation with phytohemagglutinin, Decrease... OMIM:301000
Beckwith-Wiedemann Syndrome
Enlarged kidney, Hepatomegaly, Visceromegaly, Hypertrophic cardiomyopathy, Polycythemia, Splenome... ORPHA:116
Common Variable Immunodeficiency
Autoimmune thrombocytopenia, Splenomegaly, Hemolytic anemia, Lymphopenia ORPHA:1572
Naxos Disease
Right ventricular cardiomyopathy, Abnormal morphology of right ventricular trabeculae, Abnormal h... OMIM:601214
Cantú Syndrome
Cardiomegaly, Abnormal heart valve morphology, Hypertrophic cardiomyopathy ORPHA:1517
Glycogen Storage Disease Of Heart, Lethal Congenital
Enlarged kidney, Cardiomyopathy, Hypertrophic cardiomyopathy, Pericardial effusion, Cardiomegaly,... OMIM:261740
Developmental And Epileptic Encephalopathy 95
Cardiomegaly, Hepatomegaly OMIM:618143
Aicardi-Goutières Syndrome
Irritability, Chronic lymphatic leukemia, Neonatal alloimmune thrombocytopenia, Hypertrophic card... ORPHA:51
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Cardiomegaly, Partial atrioventricular canal defect, Secundum atrial septal defect, Bicuspid aort... OMIM:620066
Alkaptonuria
Abnormal heart valve morphology, Mitral valve calcification, Aortic valve stenosis, Mitral stenos... ORPHA:56
Hyper-Igd Syndrome
Leukocytosis, Neutrophilia, Hepatosplenomegaly, Splenomegaly OMIM:260920
Truncus Arteriosus
Transposition of the great arteries, Abnormal heart valve morphology, Truncus arteriosus, Hypopla... ORPHA:3384
Double Outlet Left Ventricle
Pulmonary valve atresia, Double outlet left ventricle, Tricuspid atresia, Bicuspid pulmonary valv... ORPHA:3427
Lethal Acantholytic Erosive Disorder
Cardiomegaly, Cardiomyopathy ORPHA:158687
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Cardiomegaly ORPHA:2463
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Cardiomegaly, Patent foramen ovale, Splenic cyst OMIM:620371
Congenital Tracheomalacia
Abnormal heart morphology, Tetralogy of Fallot, Partial anomalous pulmonary venous return, Cardio... ORPHA:95430
Williams Syndrome
Abnormal circulating lipid concentration, Bicuspid aortic valve, Abnormal endocardium morphology,... ORPHA:904
Absence Of The Pulmonary Artery
Patent foramen ovale, Truncus arteriosus, Abnormal heart morphology, Tetralogy of Fallot, Cardiom... ORPHA:980
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Patent foramen ovale, Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, R... OMIM:300967
Interatrial Communication
Atrial septal defect, Sinus venosus atrial septal defect, Primum atrial septal defect, Secundum a... ORPHA:1478
Familial Idiopathic Dilatation Of The Right Atrium
Hepatomegaly, Atrial septal dilatation, Right atrial enlargement, Right ventricular hypertrophy, ... ORPHA:1677
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Bicuspid aortic valve, Cardiomegaly ORPHA:91387
Bohring-Opitz Syndrome
Cardiomegaly, Abnormal cardiac septum morphology ORPHA:97297
Histiocytoid Cardiomyopathy
Cardiomegaly, Hepatomegaly, Ventricular septal defect ORPHA:137675
Paternal Uniparental Disomy Of Chromosome 6
Cardiomegaly, Hepatomegaly, Ventricular septal defect ORPHA:96191
Congenital Total Pulmonary Venous Return Anomaly
Infracardiac total anomalous pulmonary venous connection, Atrial situs ambiguous, Transposition o... ORPHA:99125
Beckwith-Wiedemann Syndrome
Enlarged kidney, Hepatomegaly, Cardiomyopathy, Pancreatic hyperplasia, Cardiomegaly OMIM:130650
Generalized Arterial Calcification Of Infancy
Irritability, Hypophosphatemic rickets, Ventricular hypertrophy, Pericardial effusion, Cardiomega... ORPHA:51608
Yunis-Varon Syndrome
Cardiomyopathy, Tetralogy of Fallot, Cardiomegaly, Atrial septal defect, Ventricular septal defect ORPHA:3472
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Cardiomegaly ORPHA:79280
Singleton-Merten Syndrome 1
Mitral valve calcification, Aortic valve stenosis, Aortic valve calcification, Cardiomegaly, Subv... OMIM:182250

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 Usp54

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 Usp54.

There are 1 publication which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
The deubiquitinase USP54 is overexpressed in colorectal cancer stem cells and promotes intestinal tumorigenesis. Oncotarget (November 2016) Usp54tm1a(KOMP)Wtsi PMC5342676

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
Usp54tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Usp54tm1b(KOMP)Wtsi Reporter-tagged deletion allele (with selection cassette) Mice

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter