Gene Summary

Name:
ubiquilin 4
Synonyms:
UBIN

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
abnormal spleen morphology Ubqln4em1(IMPC)Mbp HOM Early adult 0.00
small liver Ubqln4em1(IMPC)Mbp HOM Early adult 0.00
increased circulating alkaline phosphatase level Ubqln4em1(IMPC)Mbp HOM Early adult 3.97×10-05
abnormal liver morphology Ubqln4em1(IMPC)Mbp HOM Early adult 0.00
decreased body length Ubqln4em1(IMPC)Mbp HOM Early adult 2.56×10-18
decreased brain weight Ubqln4em1(IMPC)Mbp HOM Early adult 8.84×10-08
small testis Ubqln4em1(IMPC)Mbp HOM Early adult 0.00
abnormal testis morphology Ubqln4em1(IMPC)Mbp HOM Early adult 0.00
small spleen Ubqln4em1(IMPC)Mbp HOM Early adult 0.00
increased circulating aspartate transaminase level Ubqln4em1(IMPC)Mbp HOM Early adult 4.49×10-08
decreased brain size Ubqln4em1(IMPC)Mbp HOM Early adult 0.00
abnormal freezing behavior Ubqln4em1(IMPC)Mbp HOM Early adult 4.18×10-06
abnormal brain morphology Ubqln4em1(IMPC)Mbp HOM Early adult 0.00
decreased locomotor activity Ubqln4em1(IMPC)Mbp HOM Early adult 4.53×10-05
decreased exploration in new environment Ubqln4em1(IMPC)Mbp HOM Early adult 5.93×10-05
abnormal heart morphology Ubqln4em1(IMPC)Mbp HOM Early adult 0.00
enhanced cued conditioning behavior Ubqln4em1(IMPC)Mbp HOM Early adult 4.81×10-12
enhanced contextual conditioning behavior Ubqln4em1(IMPC)Mbp HOM Early adult 2.33×10-05
enlarged heart Ubqln4em1(IMPC)Mbp HOM Early adult 0.00
enlarged spleen Ubqln4em1(IMPC)Mbp HOM Early adult 0.00
increased freezing behavior Ubqln4em1(IMPC)Mbp HOM Early adult 3.50×10-08
decreased prepulse inhibition Ubqln4em1(IMPC)Mbp HOM Early adult 8.28×10-08

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lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Dorso Ventral

39 Images

X-ray

XRay Images Whole Body Lateral Orientation

13 Images

Human diseases caused by Ubqln4 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 Ubqln4 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Splenomegaly, Hepatomegaly, Gait disturbance, Ataxia, Dementia ORPHA:2274
Hemochromatosis, Type 2B
Hepatic fibrosis, Increased circulating iron concentration, Elevated circulating hepatic transami... OMIM:613313
Sandhoff Disease
Progressive psychomotor deterioration, Splenomegaly, Motor deterioration, Ataxia, Hepatomegaly ORPHA:796
Hemochromatosis, Type 2A
Increased circulating iron concentration, Dilated cardiomyopathy, Cardiomyopathy, Increased circu... OMIM:602390
Hemochromatosis, Type 1
Increased circulating iron concentration, Elevated circulating hepatic transaminase concentration... OMIM:235200
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Delirium, Aggressive behavior, Abnormal fear-induced behavior, Pseudobulbar paralysis ORPHA:208441
Mantle Cell Lymphoma
Anorexia, Splenomegaly, Lymphadenopathy ORPHA:52416
Carnitine Deficiency, Systemic Primary
Decreased circulating carnitine concentration, Cardiomyopathy, Hypertrophic cardiomyopathy, Confu... OMIM:212140
Ethanolaminosis
Cardiomegaly OMIM:227150
Progressive Familial Intrahepatic Cholestasis
Cholestasis, Splenomegaly, Hypocalcemia, Cognitive impairment, Hepatomegaly, Jaundice ORPHA:172
Glut1 Deficiency Syndrome 2
Splenomegaly, Reticulocytosis, Irritability, Reduced haptoglobin level, Ataxia, Hemolytic anemia,... OMIM:612126
Congenital Toxoplasmosis
Elevated circulating hepatic transaminase concentration, Ascites, Cardiomegaly, Anemia, Cognitive... ORPHA:858
Niemann-Pick Disease, Type B
Mental deterioration, Sea-blue histiocytosis, Decreased HDL cholesterol concentration, Increased ... OMIM:607616
Pandas
Depression, Abnormal fear-induced behavior, Oppositional defiant disorder, Emotional lability, Ob... ORPHA:66624
Cholestasis, Progressive Familial Intrahepatic, 10
Hypoalbuminemia, Portal fibrosis, Increased total bilirubin, Elevated circulating aspartate amino... OMIM:619868
Coproporphyria, Hereditary
Depression, Confusion, Splenomegaly, Hepatomegaly, Jaundice OMIM:121300
Congenital Disorder Of Glycosylation, Type Iio
Cholestatic liver disease, Hepatic failure, Elevated circulating hepatic transaminase concentrati... OMIM:616828
Mucopolysaccharidosis, Type Iiib
Splenomegaly, Cardiomegaly, Hepatomegaly, Aggressive behavior, Hyperactivity, Progressive neurolo... OMIM:252920
Gaucher Disease, Type Iii
Progressive neurologic deterioration, Depression, Pancytopenia, Splenomegaly, Hepatomegaly, Throm... OMIM:231000
Cholestasis, Progressive Familial Intrahepatic, 12
Cholestasis, Elevated circulating aspartate aminotransferase concentration, Hyperbilirubinemia, S... OMIM:620010
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Dilated cardiomyopathy, Elevated circulating hepatic transaminase concentration, Hyperammonemia, ... OMIM:600649
Cardiomyopathy, Dilated, 1I
Cardiomegaly, Dilated cardiomyopathy, Elevated circulating creatine kinase concentration OMIM:604765
Symptomatic Form Of Hfe-Related Hemochromatosis
Cirrhosis, Hepatomegaly, Hypogonadotropic hypogonadism, Chronic hepatic failure, Amenorrhea, Hypo... ORPHA:465508
Proteasome-Associated Autoinflammatory Syndrome 5
Hepatomegaly, Splenomegaly, Hypertriglyceridemia OMIM:619175
Aicardi-Goutieres Syndrome 6
Splenomegaly, Irritability, Loss of ambulation, Thrombocytopenia, Hepatomegaly, Hemolytic anemia OMIM:615010
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Shuffling gait, Broad-based gait, Abnormal fear-induced behavior, Irritability, Aggressive behavi... ORPHA:3077
Beta-Thalassemia
Cholelithiasis, Hepatitis, Hypertrophic cardiomyopathy, Microcytic anemia, Abnormal hemoglobin, S... ORPHA:848
Trimethylaminuria
Anemia, Depression, Splenomegaly, Neutropenia OMIM:602079
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Elevated circulating hepatic transaminase concentration, Decreased liver function, Hepatic steato... ORPHA:42
Hypertriglyceridemia, Transient Infantile
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Hepatic steatosis, Spl... OMIM:614480
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Reduced natural killer cell count, Restrictive cardiomyopathy, Increased circulating ferritin con... OMIM:619313
Babesiosis
Hepatic failure, Depression, Confusion, Leukopenia, Splenomegaly, Thrombocytopenia, Anorexia, Hep... ORPHA:108
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Hepatomegaly, Anemia, Splenomegaly, Persistence of hemoglobin F ORPHA:46532
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Recurrent pancreatitis, Splenomegaly, Hyperlipoproteinemia OMIM:118830
Infantile Sialic Acid Storage Disease
Ascites, Splenomegaly, Cardiomegaly, Hepatomegaly, Vacuolated lymphocytes, Conjugated hyperbiliru... OMIM:269920
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Hepatic bridging fibrosis, Hepatic fibrosis, Elevated circulating gamma-aminobutyric acid concent... OMIM:619658
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Cardiomyopathy, Anorexia, Splenomegaly, Hyperammonemia, Lethargy, Anemia, Pancreatitis, Neutropen... ORPHA:79312
Hypereosinophilic Syndrome, Idiopathic
Restrictive cardiomyopathy, Endocardial fibrosis, Splenomegaly, Eosinophilia, Hepatomegaly, Myelo... OMIM:607685
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hemophagocytosis, Increased circulating ferritin concentration, Splenomegaly, Hypertriglyceridemi... OMIM:603552
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Elevated circulating hepatic transaminase concentration, Cardiomegaly, Hyperprolinemia, Lethargy,... OMIM:619064
Hepatoportal Sclerosis
Hypoalbuminemia, Nodular regenerative hyperplasia of liver, Periportal fibrosis, Abnormality of t... ORPHA:64743
Porphyria Due To Ala Dehydratase Deficiency
Depression, Restlessness, Abnormal fear-induced behavior, Difficulty walking, Confusion, Abnormal... ORPHA:100924
Congenital Disorder Of Glycosylation, Type Ik
Hypogonadism, Hepatomegaly, Splenomegaly, Cardiomyopathy OMIM:608540
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Hepatomegaly, Anorexia, Splenomegaly, Lymphadenopathy ORPHA:86893
Hyperbilirubinemia, Shunt, Primary
Erythroid hyperplasia, Hyperbilirubinemia, Splenomegaly, Anemia of inadequate production, Reticul... OMIM:237800
Splenoportal Vascular Anomalies
Hepatic fibrosis, Ascites, Splenomegaly, Hyperammonemia, Cirrhosis, Anomalous splenoportal venous... OMIM:271500
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Hypogonadism, Decreased testicular size, Decreased serum testosterone concentration, Splenomegaly... OMIM:201100
Hemoglobin H Disease
HbH hemoglobin, Splenomegaly, Hepatomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia OMIM:613978
Uruguay Faciocardiomusculoskeletal Syndrome
Ventricular hypertrophy, Elevated circulating hepatic transaminase concentration, Cardiomyopathy,... OMIM:300280
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Elevated circulating hepatic transaminase concentration, Increased circulating ferritin concentra... OMIM:616860
Mitochondrial Complex I Deficiency, Nuclear Type 39
Hypertrophic cardiomyopathy, Cryptorchidism, Cardiomegaly, Perimembranous ventricular septal defe... OMIM:620135
Galactosemia Iii
Hepatomegaly, Jaundice, Hypergalactosemia, Splenomegaly OMIM:230350
Spinocerebellar Ataxia, Autosomal Recessive 21
Hepatic bridging fibrosis, Hepatic fibrosis, Hepatic failure, Limb ataxia, Gait ataxia, Splenomeg... OMIM:616719
Bile Acid Synthesis Defect, Congenital, 5
Hepatic fibrosis, Hepatic failure, Portal fibrosis, Elevated circulating hepatic transaminase con... OMIM:616278
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Mental deterioration, Ventricular hypertrophy, Hypertrophic cardiomyopathy, Limb ataxia, Hyperamm... OMIM:619051
Congenital Disorder Of Glycosylation, Type Iij
Hepatic failure, Elevated circulating hepatic transaminase concentration, Splenomegaly, Irritabil... OMIM:613489
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Periportal fibrosis, Decreased circulating carnitine concentration, Hepatocellular necrosis, Hype... OMIM:201475
Cholestasis-Lymphedema Syndrome
Elevated circulating hepatic transaminase concentration, Neonatal cholestatic liver disease, Sple... OMIM:214900
Wilson Disease
Depression, Elevated circulating hepatic transaminase concentration, Hepatitis, Difficulty walkin... ORPHA:905
Mcleod Syndrome
Dilated cardiomyopathy, Depression, Cardiomyopathy, Elevated circulating aspartate aminotransfera... OMIM:300842
Neonatal Severe Primary Hyperparathyroidism
Hepatomegaly, Abnormal circulating calcium-phosphate regulating hormone concentration, Splenomega... ORPHA:417
Alpha-1-Antitrypsin Deficiency
Reduced circulating alpha-1-antitrypsin concentration, Elevated circulating hepatic transaminase ... OMIM:613490
Spinocerebellar Ataxia 32
Azoospermia, Cognitive impairment, Ataxia, Testicular atrophy, Infertility OMIM:613909
Cirrhotic Cardiomyopathy
Abnormal circulating B-type natriuretic peptide concentration, Ascites, Cardiomegaly, Left atrial... ORPHA:57777
Congenital Bile Acid Synthesis Defect Type 1
Elevated circulating hepatic transaminase concentration, Neonatal cholestatic liver disease, Sple... ORPHA:79301
Spinocerebellar Ataxia Type 32
Azoospermia, Cognitive impairment, Testicular atrophy, Male infertility, Progressive cerebellar a... ORPHA:276183
Wolman Disease
Hepatomegaly, Adrenal calcification, Splenomegaly, Acute hepatic failure OMIM:620151
Anemia, Hypochromic Microcytic, With Iron Overload 2
Increased circulating ferritin concentration, Hypogonadism, Sideroblastic anemia, Azoospermia, Sp... OMIM:615234
Lissencephaly Syndrome, Norman-Roberts Type
Dysphagia, Hypoplastic spleen, Atrial septal defect, Patent foramen ovale ORPHA:89844
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hepatitis, Lymphopenia, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Autoimmune th... ORPHA:444463
Neuraminidase Deficiency
Cardiomyopathy, Ascites, Splenomegaly, Dysmetria, Cardiomegaly, Hepatomegaly, Vacuolated lymphocy... OMIM:256550
Lipodystrophy, Congenital Generalized, Type 3
Hepatosplenomegaly, Splenomegaly, Hepatic steatosis, Hypocalcemia, Primary amenorrhea, Hyperchole... OMIM:612526
Cholesteryl Ester Storage Disease
Hepatic failure, Adrenal calcification, Splenomegaly, Cirrhosis, Hypercholesterolemia, Hypertrigl... ORPHA:75234
Sea-Blue Histiocyte Disease
Sea-blue histiocytosis, Elevated circulating aspartate aminotransferase concentration, Splenomega... OMIM:269600
Immunodeficiency 27A
Hypoalbuminemia, Anorexia, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Lymphadenopathy, Throm... OMIM:209950
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hypoalbuminemia, Hemophagocytosis, Increased circulating ferritin concentration, Increased total ... OMIM:267700
Alpha-Heavy Chain Disease
Ascites, Splenomegaly, Hypocalcemia, Anemia, Lymphadenopathy, Hepatomegaly ORPHA:100025
Cholesteryl Ester Storage Disease
Hepatic bridging fibrosis, Acute hepatic failure, Adrenal calcification, Hepatosplenomegaly, Hype... OMIM:278000
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Depression, Cardiomyopathy, Limb ataxia, Gait ataxia, Increased hepatic glycogen content, Cardiom... OMIM:619259
Carnitine Palmitoyltransferase I Deficiency
Elevated circulating hepatic transaminase concentration, Elevated circulating aspartate aminotran... OMIM:255120
Myopathy With Extrapyramidal Signs
Elevated circulating hepatic transaminase concentration, Extremely elevated creatine kinase, Diff... OMIM:615673
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Jaundice, Splenomegaly, Nonspherocytic hemolytic anemia OMIM:206400
Hemoglobin D Disease
Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno... ORPHA:90039
Immunodeficiency 69
Hemophagocytosis, Increased circulating ferritin concentration, Hepatosplenomegaly, Pancytopenia,... OMIM:618963
Persistent Polyclonal B-Cell Lymphocytosis
Hepatomegaly, Lymphocytosis, Splenomegaly OMIM:606445
Tyrosinemia Type 1
Hepatomegaly, Splenomegaly, Acute hepatic failure, Hepatocellular carcinoma ORPHA:882
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of memory ... OMIM:615559
Niemann-Pick Disease, Type A
Sea-blue histiocytosis, Inability to walk, Microcytic anemia, Ascites, Bone-marrow foam cells, El... OMIM:257200
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly, Congenital hypothyroidism, Hypoalbuminemia ORPHA:88643
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Reduced natural killer cell count, Hepatic failure, Elevated circulating hepatic transaminase con... ORPHA:158057
Cholestasis, Progressive Familial Intrahepatic, 3
Intrahepatic cholestasis, Portal fibrosis, Portal inflammation, Elevated circulating hepatic tran... OMIM:602347
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Cardiomyopathy, Splenomegaly, Macrocytic anemia, Hyperprolinemia, Hyperalaninemia, Ataxia, Increa... OMIM:619046
Lymphoproliferative Syndrome, X-Linked, 2
Aplastic anemia, Hepatitis, Hemophagocytosis, Increased circulating ferritin concentration, Pancy... OMIM:300635
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Increased circulating iron concentration, Reduced red cell pyruvate kinase level, Increased circu... ORPHA:766
Leishmaniasis
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Leukopenia, Pancytopeni... ORPHA:507
Gaucher Disease Type 2
Hepatomegaly, Dysphagia, Splenomegaly ORPHA:77260
Gaucher Disease Type 1
Hepatosplenomegaly, Pancytopenia, Hypersplenism, Cirrhosis, Anorexia, Hepatomegaly, Elevated circ... ORPHA:77259
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Testicular atrophy, Decreased fertility, Dysphagia, Elevated circulating creatine kinase concentr... OMIM:313200
Immunodeficiency 115 With Autoinflammation
Hypoalbuminemia, Intestinal lymphangiectasia, Elevated haptoglobin level, Abnormal circulating cr... OMIM:620632
Hemolytic Disease Of Fetus And Newborn, Rh-Induced
Hepatomegaly, Fetal ascites, Splenomegaly OMIM:619462
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Decreased helper T cell proportion, Pancytopenia, Splenomegaly, Hypersplenism OMIM:183350
Erythroleukemia, Familial, Susceptibility To
Erythroid hyperplasia, Splenomegaly, Hepatomegaly, Anemia, Acute myeloid leukemia, Thrombocytopen... OMIM:133180
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hemophagocytosis, Increased circulating ferritin concentration, Hepatosplenomegaly, Splenomegaly,... OMIM:613101
Red Cell Phospholipid Defect With Hemolysis
Splenomegaly, Hyperbilirubinemia, Reticulocytosis, Intermittent jaundice OMIM:179700
Optic Atrophy 11
Stereotypical body rocking, Splenomegaly, Dysmetria, Attention deficit hyperactivity disorder, Hy... OMIM:617302
Cholestasis-Lymphedema Syndrome
Portal hypertension, Splenomegaly, Neonatal cholestatic liver disease, Biliary tract abnormality,... ORPHA:1414
Ataxia-Pancytopenia Syndrome
Acute myelomonocytic leukemia, Abnormality of neutrophils, Pancytopenia, Splenomegaly, Abnormal m... ORPHA:2585
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Hemophagocytosis, Incre... OMIM:603553
Mirage Syndrome
Microphallus, Decreased testicular size, Lymphopenia, Leukopenia, Adrenal insufficiency, Cryptorc... OMIM:617053
Beta-Thalassemia, Dominant Inclusion Body Type
Persistence of hemoglobin F, Microcytic anemia, Splenomegaly, Erythrocyte inclusion bodies, Hepat... OMIM:603902
Familial Atrial Myxoma
Pulmonic valve myxoma, Bacterial endocarditis, Cholestasis, Ascites, Cardiomegaly, Cardiac myxoma... ORPHA:615
Autoinflammation With Episodic Fever And Lymphadenopathy
Recurrent tonsillitis, Microcytic anemia, Splenomegaly, Lymphadenopathy, Hepatomegaly OMIM:618852
Kennedy Disease
Abnormal circulating lipid concentration, Type II diabetes mellitus, Decreased fertility, Gait di... ORPHA:481
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Anemia, Thrombocytopenia, Neutropenia, He... OMIM:615285
Classic Hodgkin Lymphoma
Bone marrow hypocellularity, Anorexia, Splenomegaly, Lymphadenopathy, Ataxia, Hepatomegaly ORPHA:391
Dominant Beta-Thalassemia
Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hypopituitarism,... ORPHA:231226
Beta-Thalassemia Intermedia
Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomegaly, Anemia of inadequa... ORPHA:231222
Pearson Syndrome
Pancytopenia, Hepatic steatosis, Hypophosphatemia, Neutropenia, Ataxia, Hepatomegaly, Hypoparathy... ORPHA:699
Alpha-Thalassemia
Cholelithiasis, Extramedullary hematopoiesis, Microcytic anemia, Hemoglobin Barts, Hepatosplenome... ORPHA:846
Anemia, Congenital Dyserythropoietic, Type Iv
Persistence of hemoglobin F, Hepatosplenomegaly, Hyperbilirubinemia, Anemia of inadequate product... OMIM:613673
Hurler-Scheie Syndrome
Cardiomyopathy, Abnormal heart valve morphology, Splenomegaly, Abnormality of the tonsils, Hepato... ORPHA:93476
Ciliary Dyskinesia, Primary, 53
Polysplenia, Abdominal situs inversus, Situs inversus totalis, Patent foramen ovale, Cardiomegaly... OMIM:620642
Lymphoproliferative Syndrome, X-Linked, 1
Hypoalbuminemia, Abnormal T cell count, Hepatic failure, Aplastic anemia, Hemophagocytosis, Pancy... OMIM:308240
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly, Macroorchidism OMIM:300886
Sandhoff Disease
Progressive psychomotor deterioration, Hepatosplenomegaly, Cardiomegaly, Ataxia, Hepatomegaly, Im... OMIM:268800
Niemann-Pick Disease, Type C1
Fetal ascites, Sea-blue histiocytosis, Gait ataxia, Splenomegaly, Fatal liver failure in infancy,... OMIM:257220
Harderoporphyria
Neonatal hyperbilirubinemia, Increased circulating ferritin concentration, Splenomegaly, Reticulo... OMIM:618892
Beta-Thalassemia Major
Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hypopituitarism,... ORPHA:231214
Ras-Associated Autoimmune Leukoproliferative Disorder
Leukemia, Pancytopenia, Splenomegaly, Follicular hyperplasia, Lymphocytosis, Neutropenia, Monocyt... OMIM:614470
Immunodeficiency 42
Hepatomegaly, Hypoplasia of the thymus, Splenomegaly OMIM:616622
X-Linked Sideroblastic Anemia
Anemia, Abnormality of iron homeostasis, Elevated circulating hepatic transaminase concentration,... ORPHA:75563
Pyruvate Kinase Deficiency Of Red Cells
Cholelithiasis, Unconjugated hyperbilirubinemia, Reduced red cell pyruvate kinase level, Erythroi... OMIM:266200
Glycogen Storage Disease Ixb
Hepatomegaly, Splenomegaly, Hyperuricemia, Increased hepatic glycogen content OMIM:261750
Isolated Follicle Stimulating Hormone Deficiency
Decreased serum estradiol, Male hypogonadism, Decreased serum testosterone concentration, Decreas... ORPHA:52901
Bile Acid Synthesis Defect, Congenital, 3
Hepatic bridging fibrosis, Intrahepatic cholestasis, Hepatic failure, Hepatitis, Elevated circula... OMIM:613812
Lymphoproliferative Syndrome 1
Hemophagocytosis, Increased circulating ferritin concentration, Pancytopenia, Leukopenia, Decreas... OMIM:613011
Glycogen Storage Disease Ixa1
Elevated circulating hepatic transaminase concentration, Splenomegaly, Hyperuricemia, Hypercholes... OMIM:306000
Hsd10 Disease, Infantile Type
Hypertrophic cardiomyopathy, Hyperammonemia, Loss of ambulation, Cardiomegaly, Paroxysmal bursts ... ORPHA:391428
Pparg-Related Familial Partial Lipodystrophy
Insulin-resistant diabetes mellitus, Hypertrophic cardiomyopathy, Hepatic steatosis, Splenomegaly... ORPHA:79083
Mu-Heavy Chain Disease
Abnormal B cell count, Splenomegaly, Anemia, Lymphadenopathy, Hepatomegaly ORPHA:100024
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Irregular menstruation, Hepatic fibrosis, Portal fibrosis, Elevated circulating hepatic transamin... ORPHA:264580
Sickle Cell Disease
Splenic infarction, Cholelithiasis, Priapism, Increased red cell sickling tendency, Leukocytosis,... OMIM:603903
Gaucher Disease, Perinatal Lethal
Hepatic failure, Ascites, Hepatosplenomegaly, Akinesia, Splenomegaly, Cardiomegaly, Hepatomegaly,... OMIM:608013
Myotonic Dystrophy 1
Cholelithiasis, Hypogonadism, Obsessive-compulsive trait, Testicular atrophy, Dysphagia OMIM:160900
Congenitally Uncorrected Transposition Of The Great Arteries
Biventricular hypertrophy, Dextrotransposition of the great arteries, Abnormal pulmonary valve mo... ORPHA:860
Sclerosing Cholangitis, Neonatal
Hepatic bridging fibrosis, Hepatic failure, Portal fibrosis, Biliary cirrhosis, Cholestasis, Asci... OMIM:617394
Mucopolysaccharidosis, Type Iiic
Splenomegaly, Hyperactivity, Motor deterioration, Hepatomegaly, Asymmetric septal hypertrophy, Dy... OMIM:252930
Autoimmune Hepatitis
Depression, Elevated circulating hepatic transaminase concentration, Viral hepatitis, Increased t... ORPHA:2137
Farber Lipogranulomatosis
Hepatomegaly, Irritability, Splenomegaly, Lipogranulomatosis OMIM:228000
Mulibrey Nanism
Ascites, Cardiomegaly, Pericardial constriction, Hepatomegaly, Myocardial fibrosis OMIM:253250
Transaldolase Deficiency
Hepatic fibrosis, Clitoral hypertrophy, Micronodular cirrhosis, Decreased liver function, Hepatos... OMIM:606003
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Abnormal blood inorganic cation concentration, Elevated circulating hepatic transaminase concentr... ORPHA:309854
Caroli Disease
Intrahepatic cholestasis, Cholelithiasis, Hepatic fibrosis, Biliary cirrhosis, Cholestasis, Ascit... ORPHA:53035
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Dilated cardiomyopathy, Elevated circulating hepatic transaminase concentration, Increased total ... OMIM:608836
Congenital Disorder Of Glycosylation, Type It
Intrahepatic cholestasis, Dilated cardiomyopathy, Elevated circulating hepatic transaminase conce... OMIM:614921
Nephronophthisis 19
Malformation of the hepatic ductal plate, Hepatic fibrosis, Cholestasis, Splenomegaly, Hepatomega... OMIM:616217
Glycosylphosphatidylinositol Biosynthesis Defect 1
Portal vein thrombosis, Hepatomegaly, Portal hypertension, Splenomegaly OMIM:610293
Mast Cell Sarcoma
Mastocytosis, Splenomegaly, Lymphadenopathy, Hepatomegaly, Mediastinal lymphadenopathy ORPHA:66661
Combined Oxidative Phosphorylation Deficiency 33
Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Elevated circulating cre... OMIM:617713
Anemia, Congenital Dyserythropoietic, Type Ib
Erythroid hyperplasia, Splenomegaly, Anemia of inadequate production, Anisocytosis, Reticulocytos... OMIM:615631
Pediatric-Onset Graves Disease
Elevated circulating hepatic transaminase concentration, Polydipsia, Graves disease, Goiter, Pube... ORPHA:525731
Mitochondrial Complex I Deficiency, Nuclear Type 36
Cardiomegaly, Perimembranous ventricular septal defect, Hyperalaninemia, Hyperprolinemia OMIM:619170
Tangier Disease
Decreased HDL cholesterol concentration, Splenomegaly, Elevated circulating apolipoprotein A-II c... OMIM:205400
Anemia, Congenital Dyserythropoietic, Type Ii
Cholelithiasis, Splenomegaly, Anemia of inadequate production, Reticulocytosis, Jaundice OMIM:224100
Macrophage Activation Syndrome
Hypoalbuminemia, Hemophagocytosis, Hepatitis, Increased circulating ferritin concentration, Decre... ORPHA:158061
Bile Acid Synthesis Defect, Congenital, 1
Intrahepatic cholestasis, Giant cell hepatitis, Hepatic failure, Elevated circulating hepatic tra... OMIM:607765
Neurooculocardiogenitourinary Syndrome
Bilateral cryptorchidism, Patent foramen ovale, Ventricular septal defect, Cardiomegaly, Atrial s... OMIM:618652
Glycogen Storage Disease Ixc
Elevated circulating hepatic transaminase concentration, Splenomegaly, Increased hepatic glycogen... OMIM:613027
Liver Disease, Severe Congenital
Portal inflammation, Dilatation of the ventricular cavity, Hyperbilirubinemia, Hepatic steatosis,... OMIM:619991
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Ventricular hypertrophy, Hepatocellular necrosis, Hepatosplenomegaly, Leukocytosis, Reticulocytos... OMIM:618278
Portal Hypertension, Noncirrhotic, 1
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Portal hypertension, Splen... OMIM:617068
Mucopolysaccharidosis Type 3
Abnormal temper tantrums, Recurrent tonsillitis, Dementia, Adenoiditis, Splenomegaly, Abnormal mi... ORPHA:581
Whipple Disease
Depression, Polydipsia, Anorexia, Splenomegaly, Hyponatremia, Hepatomegaly, Anemia, Hypothyroidis... ORPHA:3452
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Bone marrow hypocellularity, Megaloblastic erythroid hyperplasia, Hypochromic ... ORPHA:75564
Cholestasis, Progressive Familial Intrahepatic, 2
Intrahepatic cholestasis, Splenomegaly, Intermittent jaundice, Cirrhosis, Hepatomegaly, Conjugate... OMIM:601847
Cholestasis, Progressive Familial Intrahepatic, 9
Malformation of the hepatic ductal plate, Intrahepatic cholestasis, Micronodular cirrhosis, Porta... OMIM:619849
Cholestasis, Progressive Familial Intrahepatic, 1
Cholelithiasis, Splenomegaly, Cirrhosis, Intrahepatic cholestasis with episodic jaundice, Hepatom... OMIM:211600
Griscelli Syndrome
Bone marrow hypocellularity, Hepatitis, Abnormal circulating lipid concentration, Ascites, Leukop... ORPHA:381
Wolfram Syndrome 1
Cardiomyopathy, Sideroblastic anemia, Hypothyroidism, Megaloblastic anemia, Thrombocytopenia, Ata... OMIM:222300
Gracile Bone Dysplasia
Ascites, Hypocalcemia, Micropenis, Asplenia, Hypoplastic spleen OMIM:602361
Congenital Myopathy 8
Cardiomegaly OMIM:618654
Stormorken Syndrome
Howell-Jolly bodies, Elevated circulating creatine kinase concentration, Thrombocytopenia, Anemia... OMIM:185070
Microphthalmia, Syndromic 9
Hypoplastic left atrium, Multilobulated spleen, Tetralogy of Fallot, Cryptorchidism, Truncus arte... OMIM:601186
Primary Myelofibrosis
Extramedullary hematopoiesis, Anorexia, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Portal hy... ORPHA:824
Chronic Visceral Acid Sphingomyelinase Deficiency
Hypersplenism, Increased LDL cholesterol concentration, Cirrhosis, Ataxia, Hepatomegaly, Autoimmu... ORPHA:77293
Macrocephaly/Autism Syndrome
Lymphopenia, Penile freckling, Short attention span, Splenomegaly, Hepatomegaly, Hydrocele testis OMIM:605309
Combined Oxidative Phosphorylation Deficiency 8
Hypertrophic cardiomyopathy, Cardiomegaly OMIM:614096
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Cholelithiasis, Hyperbilirubinemia, Splenomegaly, Cholecystitis, Reticulocytos... OMIM:235700
Portal Hypertension, Noncirrhotic, 2
Nodular regenerative hyperplasia of liver, Elevated circulating hepatic transaminase concentratio... OMIM:619463
Histiocytosis-Lymphadenopathy Plus Syndrome
Type I diabetes mellitus, Pancreatic hypoplasia, Decreased response to growth hormone stimulation... OMIM:602782
Niemann-Pick Disease, Type C2
Fetal ascites, Sea-blue histiocytosis, Splenomegaly, Prolonged neonatal jaundice, Hepatomegaly, M... OMIM:607625
Glycogen Storage Disease Ii
Difficulty walking, Splenomegaly, Elevated circulating creatine kinase concentration, Cardiomegal... OMIM:232300
Griscelli Syndrome Type 2
Hemophagocytosis, Pancytopenia, Hyperlipidemia, Splenomegaly, Lymphadenopathy, Neutropenia, Hepat... ORPHA:79477
Combined Oxidative Phosphorylation Deficiency 10
Hypertrophic cardiomyopathy, Ascites, Hyperammonemia, Cardiomegaly, Hyperalaninemia, Pericardial ... OMIM:614702
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hepatic failure, Abnormality of the uterus, Pancreatic lymphangiectasis, Ascites, Hepatosplenomeg... ORPHA:1655
Legionnaires Disease
Bone marrow hypocellularity, Hepatitis, Anorexia, Lymphopenia, Splenomegaly, Hyponatremia, Pancre... ORPHA:549
Combined Oxidative Phosphorylation Deficiency 41
Cardiomegaly, Decreased circulating cortisol level, Anemia, Elevated circulating creatine kinase ... OMIM:618838
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Aortic valve stenosis, Inability to walk, Mitral valve prolapse, Cardiomegaly, Steppage gait, Abn... ORPHA:324410
Immunodeficiency 32B
Hypoalbuminemia, Impaired oxidative burst, Splenomegaly, Eosinophilia, Anemia, Monocytopenia, Thr... OMIM:226990
Beck-Fahrner Syndrome
Cardiomegaly, Attention deficit hyperactivity disorder, Depression, Ventricular septal defect OMIM:618798
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hypoalbuminemia, Depletion of mitochondrial DNA in liver, Periportal fibrosis, Hepatic failure, E... OMIM:251880
Abetalipoproteinemia
Broad-based gait, Hyperbilirubinemia, Acanthocytosis, Hepatic steatosis, Cirrhosis, Ataxia, Hepat... ORPHA:14
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Spontaneous hemolytic crises, Cholelithiasis, Pigment gallstones, Cholecystitis, Splenomegaly, No... OMIM:613470
Bile Acid Synthesis Defect, Congenital, 2
Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio... OMIM:235555
Hypogonadism, Male
Micropenis, Male hypogonadism, Hypospadias, Testicular atrophy OMIM:241100
Hereditary Spherocytosis
Spontaneous hemolytic crises, Cholelithiasis, Restrictive cardiomyopathy, Increased mean corpuscu... ORPHA:822
Dehydrated Hereditary Stomatocytosis
Cholelithiasis, Neonatal hyperbilirubinemia, Increased mean corpuscular volume, Polycythemia, Inc... ORPHA:3202
Familial Partial Lipodystrophy, Dunnigan Type
Hypertrophic cardiomyopathy, Hepatic steatosis, Splenomegaly, Polycystic ovaries, Dysmenorrhea, P... ORPHA:2348
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Splenomegaly, Decreased proportion of class-switched memory B cells, Coombs-positive hemolytic an... OMIM:619375
Autoinflammatory Disease, Systemic, With Vasculitis
Hepatic fibrosis, Parotitis, Cholestasis, Elevated circulating aspartate aminotransferase concent... OMIM:620376
Systemic-Onset Juvenile Idiopathic Arthritis
Splenomegaly, Lymphadenopathy, Elevated circulating C-reactive protein concentration, Hepatomegal... ORPHA:85414
Neonatal Lupus Erythematosus
Hepatic failure, Dilated cardiomyopathy, Aplastic anemia, Elevated circulating hepatic transamina... ORPHA:398124
Attrv30M Amyloidosis
Cardiomegaly, Impotence, Cardiomyopathy ORPHA:85447
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Splenomegaly, Microcytic anemia, Abnormal hemoglobin ORPHA:231242
Autoimmune Lymphoproliferative Syndrome
Chronic noninfectious lymphadenopathy, Follicular hyperplasia, Autoimmune hemolytic anemia, Splen... OMIM:601859
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Irregular menstruation, Hepatic fibrosis, Elevated circulating hepatic transaminase concentration... ORPHA:79240
Infantile Liver Failure Syndrome 3
Hepatic bridging fibrosis, Elevated circulating hepatic transaminase concentration, Cholestasis, ... OMIM:618641
Congenital Pulmonary Lymphangiectasia
Ascites, Splenomegaly, Hepatomegaly, Chylopericardium, Pulmonic stenosis ORPHA:2414
Amyloidosis, Hereditary Systemic 1
Cardiomyopathy, Confusion, Limb ataxia, Cardiomegaly, Ataxia, Dementia, Truncal ataxia, Impotence OMIM:105210
Mogs-Cdg
External genital hypoplasia, Hepatosplenomegaly, Cardiomegaly, Left ventricular hypertrophy, Hypo... ORPHA:79330
Long-Olsen-Distelmaier Syndrome
Dilated cardiomyopathy, Secundum atrial septal defect, Elevated circulating aspartate aminotransf... OMIM:620609
Renal-Hepatic-Pancreatic Dysplasia 1
Aortic valve stenosis, Malformation of the hepatic ductal plate, Hepatic fibrosis, Biliary cirrho... OMIM:208540
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Hepatitis, Increased circula... OMIM:194380
Glycogen Storage Disease Xii
Normocytic anemia, Cholelithiasis, Hyperbilirubinemia, Cholecystitis, Splenomegaly, Reduced hapto... OMIM:611881
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hepatic failure, Pancreatic lymphangiectasis, Ascites, Cryptorchidism, Splenomegaly, Ventricular ... OMIM:235255
Pseudo-Torch Syndrome 3
Lymphadenitis, Increased circulating ferritin concentration, Leukocytosis, Cardiomegaly, Congenit... OMIM:618886
Idiopathic Pulmonary Hemosiderosis
Cardiomegaly, Hepatomegaly, Hepatosplenomegaly, Iron deficiency anemia ORPHA:99931
Dehydrated Hereditary Stomatocytosis 2
Increased mean corpuscular volume, Increased mean corpuscular hemoglobin concentration, Thrombocy... OMIM:616689
Attrv122I Amyloidosis
Aortic valve stenosis, Restrictive cardiomyopathy, Hypertrophic cardiomyopathy, Cardiomegaly, Lef... ORPHA:85451
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Small scrotum, Decreased serum testosterone concentration, Decreased testicular size, Azoospermia... OMIM:308700
Osteopetrosis, Autosomal Dominant 3
Hepatomegaly, Hyperparathyroidism, Anemia, Splenomegaly OMIM:618107
Choreoacanthocytosis
Mental deterioration, Acanthocytosis, Emotional lability, Hair-pulling, Loss of ambulation, Eleva... ORPHA:2388
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Elevated circulating acylcarnitine concentration, Hepatic failure, Cardiomyopathy, Decreased plas... ORPHA:228308
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Splenic infarction, Persistence of hemoglobin F, Increased red cell sickling tendency, Reticulocy... ORPHA:251380
Gm1-Gangliosidosis, Type Ii
Sea-blue histiocytosis, Progressive psychomotor deterioration, Splenomegaly, Gait disturbance, At... OMIM:230600
Ornithine Transcarbamylase Deficiency
Hyperammonemia, Hepatic failure, Splenomegaly ORPHA:664
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Hypertrophic cardiomyopathy, Muscular ventricular septal defect, Ascites... OMIM:115197
Immunodeficiency 97 With Autoinflammation
Decreased proportion of CD4+CD25+ regulatory T cells, Reduced natural killer cell count, Hemophag... OMIM:619802
Adult-Onset Still Disease
Bone marrow hypocellularity, Elevated circulating hepatic transaminase concentration, Hepatitis, ... ORPHA:829
Developmental And Epileptic Encephalopathy 95
Inability to walk, Inappropriate laughter, Cryptorchidism, Cardiomegaly, Gait disturbance, Ataxia... OMIM:618143
Trichohepatoenteric Syndrome 1
Hypoalbuminemia, Hepatic fibrosis, Hypermethioninemia, Increased circulating iron concentration, ... OMIM:222470
Fish-Eye Disease
Hepatomegaly, Decreased HDL cholesterol concentration, Splenomegaly, Lymphadenopathy ORPHA:79292
Glycogen Storage Disease Due To Acid Maltase Deficiency
Difficulty walking, Hypertrophic cardiomyopathy, Inability to walk, Elevated circulating creatine... ORPHA:365
Wolman Disease
Hepatic failure, Ascites, Adrenal calcification, Adrenal insufficiency, Splenomegaly, Anemia, Hep... ORPHA:75233
Parenteral Nutrition-Associated Cholestasis
Hepatic fibrosis, Cholelithiasis, Hepatic failure, Elevated circulating hepatic transaminase conc... ORPHA:567983
Danon Disease
Myocardial necrosis, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Elevated circulating cr... OMIM:300257
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Hepatic fibrosis, Dilated cardiomyopathy, Lymphadenitis, Elevated circulating hepatic transaminas... OMIM:615895
Dyskeratosis Congenita, Autosomal Recessive 2
Bone marrow hypocellularity, Pancytopenia, Cirrhosis, Thrombocytopenia, Testicular atrophy OMIM:613987
Cardiomyopathy, Familial Hypertrophic, 27
Cardiomyocyte hypertrophy, Hypertrophic cardiomyopathy, Concentric hypertrophic cardiomyopathy, E... OMIM:618052
Adams-Oliver Syndrome 6
Hepatic fibrosis, Portal hypertension, Splenomegaly, Truncus arteriosus, Ventricular septal defect OMIM:616589
Gm2 Gangliosidosis, Ab Variant
Inappropriate behavior, Abnormal fear-induced behavior, Cognitive impairment ORPHA:309246
Neutral Lipid Storage Disease With Myopathy
Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Difficulty walking, Chro... OMIM:610717
Leukocyte Adhesion Deficiency, Type Iii
Extramedullary hematopoiesis, Abnormal lymph node morphology, Hepatosplenomegaly, Leukocytosis, S... OMIM:612840
Hypocalcemic Vitamin D-Dependent Rickets
Hypochromic anemia, Elevated circulating parathyroid hormone level, Cardiomyopathy, Difficulty wa... ORPHA:289157
Heterotaxy, Visceral, 1, X-Linked
Ventricular septal defect, Atrial septal defect, Dextrocardia, Single ventricle, Hepatomegaly, Hy... OMIM:306955
Gaucher Disease Type 3
Aortic valve calcification, Abnormal heart valve morphology, Pancytopenia, Splenomegaly, Hepatome... ORPHA:77261
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly OMIM:613576
Spherocytosis, Type 1
Cholelithiasis, Hyperbilirubinemia, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemol... OMIM:182900
Isolated Biliary Atresia
Periportal fibrosis, Elevated circulating hepatic transaminase concentration, Decreased liver fun... ORPHA:30391
Steinert Myotonic Dystrophy
Mental deterioration, Oral-pharyngeal dysphagia, Hyperinsulinemia, Decreased fertility, Emotional... ORPHA:273
Fetal Cytomegalovirus Syndrome
Elevated circulating hepatic transaminase concentration, Hepatitis, Splenomegaly, Hepatomegaly, T... ORPHA:294
Primary Sclerosing Cholangitis
Cholestasis, Acute hepatic failure, Hepatosplenomegaly, Abnormal biliary tract morphology, Cirrho... ORPHA:171
Timothy Syndrome
Tetralogy of Fallot, Hypocalcemia, Patent foramen ovale, Ventricular septal defect, Cardiomegaly,... OMIM:601005
Familial Hemophagocytic Lymphohistiocytosis
Cholestatic liver disease, Hypoalbuminemia, Elevated circulating hepatic transaminase concentrati... ORPHA:540
Tafro Syndrome
Ascites, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Anemia, Lymphadenopathy, Thrombocytopeni... ORPHA:457077
Kallmann Syndrome With Spastic Paraplegia
Hypothalamic gonadotropin-releasing hormone deficiency, Cryptorchidism, Hypogonadotropic hypogona... OMIM:308750
Gaucher Disease, Type Iiic
Aortic valve calcification, Pancytopenia, Mitral stenosis, Splenomegaly, Cardiomegaly, Mitral val... OMIM:231005
Lipodystrophy, Congenital Generalized, Type 2
Clitoral hypertrophy, Elevated circulating hepatic transaminase concentration, Hypertrophic cardi... OMIM:269700
Hb Bart'S Hydrops Fetalis
Abnormal hemoglobin, Splenomegaly, Anemia, Hepatomegaly, Pericarditis ORPHA:163596
Aarskog-Scott Syndrome
Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Decreased serum testost... OMIM:305400
Omenn Syndrome
Splenomegaly, Hypoplasia of the thymus, Eosinophilia, Hepatomegaly, Anemia, Lymphadenopathy, Thro... OMIM:603554
Chédiak-Higashi Syndrome
Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Cognitive impairment, Neutropenia, Ataxia, Ja... ORPHA:167
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Tip-toe gait, Inability to walk, Elevated circulating creatine kinase concentration, Cardiomegaly... ORPHA:268
Refsum Disease, Classic
Cardiomegaly, Elevated circulating phytanic acid concentration, Cardiomyopathy, Ataxia OMIM:266500
Spermatogenic Failure, X-Linked, 2
Spermatogenesis maturation arrest, Azoospermia, Testicular atrophy, Male infertility OMIM:309120
Congenital Tricuspid Valve Dysplasia
Abnormal tricuspid valve annulus morphology, Patent foramen ovale, Cardiomegaly, Tricuspid valve ... ORPHA:555874
Hemoglobin E Disease
Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Splenomega... ORPHA:2133
Gamma-Heavy Chain Disease
Abnormal lymphocyte morphology, Splenomegaly, Autoimmune hemolytic anemia, Anemia, Lymphadenopath... ORPHA:100026
Autosomal Recessive Polycystic Kidney Disease
Cholestasis, Hepatosplenomegaly, Hypersplenism, Congenital hepatic fibrosis, Increased serum bile... ORPHA:731
Niemann-Pick Disease Type C
Mental deterioration, Hepatosplenomegaly, Cognitive impairment, Ataxia, Hepatomegaly, Jaundice, D... ORPHA:646
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Abnormally low T cell receptor excision circle level, Genital ulcers, Lymphopenia, Lymph node hyp... OMIM:602450
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Depression, Gait ataxia, Primary amenorrhea, Testicular atrophy, Premature ovarian insufficiency,... OMIM:157640
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Hypertrophic cardiomyopathy, Ascites, Ventricular septal defect, Cardiomegaly, Micropenis, Hyposp... OMIM:616897
Fucosidosis
Mental deterioration, Splenomegaly, Cardiomegaly, Hepatomegaly, Spastic gait, Vacuolated lymphocytes OMIM:230000
Budd-Chiari Syndrome
Elevated circulating hepatic transaminase concentration, Ascites, Acute hepatic failure, Portal h... ORPHA:131
Hardikar Syndrome
Portal inflammation, Cholestasis, Hepatosplenomegaly, Hypersplenism, Hyperbilirubinemia, Ventricu... OMIM:301068
Fucosidosis
Cardiomegaly, Hepatomegaly, Abnormality of the gallbladder, Hypothyroidism ORPHA:349
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Unconjugated hyperbilirubinemia, Leukocytosis, Reticulocytosis, Splenomegaly, Anisocytosis, Heinz... OMIM:300908
Neurodegeneration And Seizures Due To Copper Transport Defect
Abnormal circulating copper concentration, Abnormal circulating ceruloplasmin concentration, Glan... OMIM:620306
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Hepatic fibrosis, Hepatic failure, Cholestasis, Portal hypertension, Splenomegaly, Sclerosing cho... OMIM:607626
Apolipoprotein C-Ii Deficiency
Increased circulating chylomicron concentration, Splenomegaly, Pancreatitis, Hypercholesterolemia... OMIM:207750
Q Fever
Elevated circulating hepatic transaminase concentration, Hepatitis, Abnormal heart valve morpholo... ORPHA:781
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Bone marrow hypocellularity, Type I diabetes mellitus, Dilated cardiomyopathy, Elevated circulati... OMIM:615688
Lipodystrophy, Congenital Generalized, Type 1
Clitoral hypertrophy, Elevated circulating hepatic transaminase concentration, Cardiomyopathy, La... OMIM:608594
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Hypertrophic cardiomyopathy, Elevated circulating creatine kinase concentration, Cardiomegaly, Le... ORPHA:308552
Hyperparathyroidism, Neonatal Severe
Polydipsia, Elevated circulating parathyroid hormone level, Splenomegaly, Anemia, Hypophosphatemi... OMIM:239200
Anemia, Congenital Dyserythropoietic, Type Ia
Macrocytic dyserythropoietic anemia, Erythroid hyperplasia, Hyperbilirubinemia, Reticulocytosis, ... OMIM:224120
Waldenström Macroglobulinemia
Normocytic anemia, Memory impairment, Anorexia, Splenomegaly, Hepatomegaly, Lymphadenopathy, Atax... ORPHA:33226
Wilson Disease
Hypouricemia, Acute hepatic failure, Hyperbilirubinemia, Hepatic steatosis, Cirrhosis, Elevated c... OMIM:277900
Overhydrated Hereditary Stomatocytosis
Stomatocytosis, Increased mean corpuscular volume, Hyperbilirubinemia, Splenomegaly, Reticulocyto... OMIM:185000
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Hemophagocytosis, Increased circulating ferritin concentration, Pancytopenia, Splenomegaly, Hyper... OMIM:618398
Lesch-Nyhan Syndrome
Self-injurious behavior, Hyperuricemia, Megaloblastic anemia, Testicular atrophy, Dysphagia, Chor... OMIM:300322
Hemophagocytic Syndrome Associated With An Infection
Elevated circulating hepatic transaminase concentration, Hemophagocytosis, Increased circulating ... ORPHA:158048
Immunodeficiency 47
Hepatic bridging fibrosis, Hepatic fibrosis, Accessory spleen, Normocytic anemia, Elevated circul... OMIM:300972
Mucopolysaccharidosis Type 2
Mental deterioration, Abnormal temper tantrums, Cardiomyopathy, Abnormal heart morphology, Abnorm... ORPHA:580
Gaucher Disease
Aortic valve calcification, Pancytopenia, Cirrhosis, Ataxia, Hepatomegaly, Elevated circulating C... ORPHA:355
Adams-Oliver Syndrome 5
Hypersplenism, Splenomegaly, Patent foramen ovale, Portal vein thrombosis, Right atrial enlargeme... OMIM:616028
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Accessory spleen, Cholestatic liver disease, Polysplenia, Exocrine pancreatic insufficiency, Hepa... OMIM:619418
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Hepatic fibrosis, Pancreatic hypoplasia, Hepatitis, Elevated circulating thyroid-stimulating horm... OMIM:610199
Spherocytosis, Type 4
Hyperbilirubinemia, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia OMIM:612653
Cantu Syndrome
Cardiomegaly, Bicuspid aortic valve, Congenital hypertrophy of left ventricle, Pericardial effusion OMIM:239850
Brucellosis
Depression, Liver abscess, Anorexia, Hypersplenism, Abnormality of the liver, Leukopenia, Leukocy... ORPHA:1304
Fixed Subaortic Stenosis
Bacterial endocarditis, Abnormal heart morphology, Atrioventricular canal defect, Ventricular sep... ORPHA:3092
Complete Atrioventricular Septal Defect
Primum atrial septal defect, Displacement of the papillary muscles, Abnormal cardiac atrium morph... ORPHA:1329
Immunodeficiency 98 With Autoinflammation, X-Linked
Bone marrow hypocellularity, Type I diabetes mellitus, Hemophagocytosis, Agranulocytosis, Autoimm... OMIM:301078
Spherocytosis, Type 2
Hyperbilirubinemia, Acanthocytosis, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemol... OMIM:616649
8P11.2 Deletion Syndrome
Hypogonadism, Azoospermia, Cryptorchidism, Mitral valve prolapse, Splenomegaly, Hypogonadotropic ... ORPHA:251066
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Stomatocytosis, Inability to walk, Splenomegaly, Conjugated hyperbilirubinemia, Ataxia, Hepatomeg... OMIM:608885
Alpha-N-Acetylgalactosaminidase Deficiency
Cardiomegaly ORPHA:3137
Primary Biliary Cholangitis
Hypoalbuminemia, Hepatic fibrosis, Hepatic failure, Biliary cirrhosis, Hepatitis, Abnormal circul... ORPHA:186
Syndromic Diarrhea
Hepatic fibrosis, Abnormal heart morphology, Tetralogy of Fallot, Lymphopenia, Abnormality of the... ORPHA:84064
Pituitary Adenoma 4, Acth-Secreting
Pituitary adenoma, Abnormal fear-induced behavior, Increased circulating ACTH level, Emotional la... OMIM:219090
Hereditary Elliptocytosis
Cholelithiasis, Stomatocytosis, Neonatal hyperbilirubinemia, Abnormal erythrocyte morphology, Con... ORPHA:288
Crimean-Congo Hemorrhagic Fever
Pancytopenia, Emotional lability, Anorexia, Hepatomegaly, Neutrophilia, Jaundice, Epididymitis, A... ORPHA:99827
Idiopathic Hypereosinophilic Syndrome
Hepatosplenomegaly, Chronic hepatitis, Myocardial eosinophilic infiltration, Neutrophilia, Myelop... ORPHA:3260
Spherocytosis, Type 5
Abnormal leukocyte count, Splenomegaly, Reticulocytosis, Abnormal platelet count, Spherocytosis, ... OMIM:612690
Primary Triglyceride Deposit Cardiomyovasculopathy
Coronary artery stenosis, Cardiomyopathy, Abnormal cardiomyocyte morphology, Hyperlipidemia, Sple... ORPHA:565612
Familial Mediterranean Fever
Leukocytosis, Splenomegaly, Orchitis, Peritonitis, Elevated circulating C-reactive protein concen... OMIM:249100
Behçet Disease
Memory impairment, Anorexia, Confusion, Splenomegaly, Orchitis, Irritability, Gait disturbance, A... ORPHA:117
Gaucher Disease, Type Ii
Splenomegaly, Hepatomegaly, Anemia, Thrombocytopenia, Progressive neurologic deterioration, Dysph... OMIM:230900
Erythrocytosis, Familial, 8
Polycythemia, Increased hematocrit, Splenomegaly, Increased circulating hemoglobin concentration,... OMIM:222800
Aicardi-Goutières Syndrome
Neonatal alloimmune thrombocytopenia, Elevated circulating hepatic transaminase concentration, Di... ORPHA:51
Tyrosinemia, Type I
Hypermethioninemia, Elevated circulating alpha-fetoprotein concentration, Hepatic failure, Elevat... OMIM:276700
Kikuchi-Fujimoto Disease
Elevated circulating hepatic transaminase concentration, Abnormal lymph node morphology, Cervical... ORPHA:50918
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8
Nodular regenerative hyperplasia of liver, Hepatic failure, Increased mean corpuscular volume, Po... OMIM:620367
Ogden Syndrome
Hyperbilirubinemia, Cryptorchidism, Ventricular septal defect, Bicuspid aortic valve, Atrial sept... OMIM:300855
Cryohydrocytosis
Pseudohyperkalemia, Stomatocytosis, Splenomegaly, Reticulocytosis, Hemolytic anemia OMIM:185020
Coronary Arterial Fistula
Aortic valve stenosis, Bacterial endocarditis, Abnormal heart morphology, Patent foramen ovale, C... ORPHA:2041
Sitosterolemia 1
Stomatocytosis, Giant platelets, Hyperapobetalipoproteinemia, Reticulocytosis, Splenomegaly, Redu... OMIM:210250
Bone Marrow Failure Syndrome 5
Hypogonadism, Erythroid hypoplasia, Anemia, Testicular atrophy, Pure red cell aplasia OMIM:618165
Hyperlipoproteinemia, Type Id
Increased circulating chylomicron concentration, Splenomegaly, Hypertriglyceridemia, Hyperlipopro... OMIM:615947
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Aortic valve stenosis, Self-injurious behavior, Abnormal fear-induced behavior, Abnormal heart mo... ORPHA:353281
Mucolipidosis Ii Alpha/Beta
Increased serum beta-hexosaminidase, Tip-toe gait, Hypertrophic cardiomyopathy, Splenomegaly, Car... OMIM:252500
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy, Cryptorchidism, Pa... OMIM:300967
Glycogen Storage Disease Ib
Elevated circulating hepatic transaminase concentration, Hyperlipidemia, Splenomegaly, Hyperurice... OMIM:232220
Myelofibrosis
Hemophagocytosis, Extramedullary hematopoiesis, Splenomegaly, Hepatomegaly, Myeloproliferative di... OMIM:254450
Paternal Uniparental Disomy Of Chromosome 6
Precocious puberty, Neonatal insulin-dependent diabetes mellitus, Labial hypertrophy, Cryptorchid... ORPHA:96191
Beckwith-Wiedemann Syndrome
Pancreatic hyperplasia, Cardiomyopathy, Overgrowth of external genitalia, Adrenocortical cytomega... OMIM:130650
Lethal Congenital Contracture Syndrome 10
Cardiomegaly, Hypoplasia of the thymus, Overriding aorta, Ventricular septal defect OMIM:617022
Overhydrated Hereditary Stomatocytosis
Abnormal mean corpuscular volume, Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis... ORPHA:3203
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Cardiomegaly OMIM:613320
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Hepatic sinusoidal dilatation, Inability to walk, Splenic cyst, Cryptorchidism, Patent foramen ov... OMIM:620371
Craniofaciofrontodigital Syndrome
Aortic valve stenosis, Abnormal heart valve morphology, Ventricular septal defect, Cardiomegaly, ... ORPHA:363705
Chronic Myeloid Leukemia
Abnormal granulocyte morphology, Leukocytosis, Splenomegaly, Abnormal basophil morphology, Thromb... ORPHA:521
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatic fibrosis, Periportal fibrosis, Portal hypertension, Hepatic cysts, Splenomegaly, Hepatome... OMIM:263200
Proteasome-Associated Autoinflammatory Syndrome 1
Irregular menstruation, Elevated circulating hepatic transaminase concentration, Elevated circula... OMIM:256040
Beckwith-Wiedemann Syndrome
Visceromegaly, Polycythemia, Abnormal pancreas morphology, Hypertrophic cardiomyopathy, Exocrine ... ORPHA:116
Immunodeficiency 113 With Autoimmunity And Autoinflammation
Neutrophilia, Intraalveolar phospholipid accumulation, Hepatitis, Leukocytosis, Autoimmune hemoly... OMIM:620565
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Testicular atrophy OMIM:601163
Hyperlipoproteinemia, Type I
Lactescent serum, Increased circulating chylomicron concentration, Hepatosplenomegaly, Hyperlipid... OMIM:238600
Isolated Right Ventricular Hypoplasia
Muscular ventricular septal defect, Patent foramen ovale, Cardiomegaly, Atrial septal defect, Rig... ORPHA:439
Cystinosis, Nephropathic
Male hypogonadism, Decreased circulating carnitine concentration, Polydipsia, Hypomagnesemia, Exo... OMIM:219800
Familial Mediterranean Fever
Depression, Ascites, Acute hepatic failure, Leukocytosis, Splenomegaly, Orchitis, Peritonitis, Pa... ORPHA:342
Arterial Calcification, Generalized, Of Infancy, 2
Cardiomegaly, Right atrial enlargement, Hypophosphatemic rickets OMIM:614473
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Aortic valve calcification, Bacterial endocarditis, Broad-based gait, Cholelithiasis, Hepatic fib... ORPHA:2072
Williams Syndrome
Type II diabetes mellitus, Cryptorchidism, Mitral valve prolapse, Polycystic ovaries, Ventricular... ORPHA:904
Thrombocytopenia, Anemia, And Myelofibrosis
Anemia, Splenomegaly, Thrombocytopenia, Anisopoikilocytosis OMIM:617441
African Trypanosomiasis
Difficulty walking, Hepatosplenomegaly, Hepatomegaly, Delirium, Jaundice, Choreoathetosis, Irrita... ORPHA:3385
Histiocytoid Cardiomyopathy
Polycystic ovaries, Cardiomegaly, Ventricular septal defect, Lethargy, Hepatomegaly ORPHA:137675
Double Outlet Left Ventricle
Cryptorchidism, Ventricular septal defect, Cardiomegaly, Bicuspid pulmonary valve, Pulmonary valv... ORPHA:3427
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Secundum atrial septal defect, Inability to walk, Partial atrioventricular canal defect, Ventricu... OMIM:620066
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Aortic valve stenosis, Self-injurious behavior, Abnormal fear-induced behavior, Abnormal heart mo... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Aortic valve stenosis, Self-injurious behavior, Abnormal fear-induced behavior, Abnormal heart mo... ORPHA:353277
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Cardiomegaly, Abnormal thymus morphology ORPHA:2463
Elliptocytosis 1
Jaundice, Hemolytic anemia, Splenomegaly, Elliptocytosis OMIM:611804
Bohring-Opitz Syndrome
Cholelithiasis, Annular pancreas, Inability to walk, Cardiomegaly, Abnormal cardiac septum morpho... ORPHA:97297
Familial Aortic Dissection
Cardiomegaly ORPHA:229
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Mitral valve prolapse, Patent foramen ovale, Cardiomegaly, Bicuspid aortic valve, Left ventricula... OMIM:245600
Reynolds Syndrome
Biliary cirrhosis, Elevated circulating hepatic transaminase concentration, Cholestasis, Lymphope... OMIM:613471
Tropical Endomyocardial Fibrosis
Hypoalbuminemia, Restrictive cardiomyopathy, Endocardial fibrosis, Coronary artery stenosis, Asci... ORPHA:75565
Aorta Coarctation
Hypoplastic left heart, Tetralogy of Fallot, Cardiomegaly, Bicuspid aortic valve, Perimembranous ... ORPHA:1457
Digeorge Syndrome
Cholelithiasis, Parathyroid hypoplasia, Tetralogy of Fallot, Hepatic steatosis, Ovarian cyst, Tru... OMIM:188400
Familial Idiopathic Dilatation Of The Right Atrium
Abnormality of the hepatic vasculature, Cardiomegaly, Hepatomegaly, Right atrial enlargement, Atr... ORPHA:1677
Biliary, Renal, Neurologic, And Skeletal Syndrome
Unbalanced atrioventricular canal defect, Cholestasis, Hyperbilirubinemia, Congenital hepatic fib... OMIM:619534
Cantú Syndrome
Hypertrophic cardiomyopathy, Cardiomegaly, Abnormal heart valve morphology ORPHA:1517
Naxos Disease
Dilated cardiomyopathy, Abnormal heart morphology, Right ventricular cardiomyopathy, Cardiomegaly... OMIM:601214
Johanson-Blizzard Syndrome
Clitoral hypertrophy, Cryptorchidism, Ventricular septal defect, Elevated circulating alanine ami... OMIM:243800
Glycogen Storage Disease Of Heart, Lethal Congenital
Cardiomyopathy, Biventricular hypertrophy, Hypertrophic cardiomyopathy, Ascites, Cardiomegaly, Pe... OMIM:261740
Plague
Depression, Lymphadenitis, Splenomegaly, Hepatomegaly, Anorexia, Delirium, Enlarged mesenteric ly... ORPHA:707
Truncus Arteriosus
Abnormal heart morphology, Tetralogy of Fallot, Abnormal heart valve morphology, Truncus arterios... ORPHA:3384
Arterial Calcification, Generalized, Of Infancy, 1
Cardiomegaly, Dilated cardiomyopathy, Hypophosphatemic rickets OMIM:208000
X-Linked Intellectual Disability, Snyder Type
Abnormality of the Leydig cells, Inability to walk, Cryptorchidism, Testicular atrophy, Unsteady ... ORPHA:3063
Alström Syndrome
Testicular fibrosis, Decreased circulating T4 concentration, Hepatosplenomegaly, Hyperinsulinemia... ORPHA:64
Lethal Acantholytic Erosive Disorder
Cardiomegaly, Cardiomyopathy ORPHA:158687
Generalized Arterial Calcification Of Infancy
Ventricular hypertrophy, Ascites, Adrenal calcification, Hypophosphatemic rickets, Irritability, ... ORPHA:51608
Congenital Tracheomalacia
Abnormal heart morphology, Tetralogy of Fallot, Ventricular septal defect, Cardiomegaly, Atrial s... ORPHA:95430
Absence Of The Pulmonary Artery
Abnormal heart morphology, Tetralogy of Fallot, Patent foramen ovale, Truncus arteriosus, Cardiom... ORPHA:980
Yunis-Varon Syndrome
Clitoral hypertrophy, Cardiomyopathy, Tetralogy of Fallot, Cryptorchidism, Ventricular septal def... ORPHA:3472
Congenital Total Pulmonary Venous Return Anomaly
Hypoplastic left heart, Mixed total anomalous pulmonary venous connection, Atrial situs ambiguous... ORPHA:99125
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Cardiomegaly, Bicuspid aortic valve ORPHA:91387
Interatrial Communication
Right ventricular dilatation, Secundum atrial septal defect, Cardiomegaly, Sinus venosus atrial s... ORPHA:1478
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Cardiomegaly ORPHA:79280
Singleton-Merten Syndrome 1
Aortic valve stenosis, Aortic valve calcification, Cardiomegaly, Mitral valve calcification, 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 Ubqln4

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 Ubqln4.

No publications found that use IMPC mice or data for Ubqln4.

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
Ubqln4em1(IMPC)Mbp Exon Deletion Mice, Tissue
Ubqln4tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Ubqln4tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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