Gene Summary

Name:
tenascin XB
Synonyms:
Tnx,  TN-MHC

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
decreased blood urea nitrogen level Tnxbtm1b(EUCOMM)Hmgu HOM   Early adult 4.76×10-05
decreased bone mineral content Tnxbtm1b(EUCOMM)Hmgu HOM Early adult 7.38×10-05
enlarged spleen Tnxbtm1b(EUCOMM)Hmgu HOM Early adult 0.00
enlarged heart Tnxbtm1b(EUCOMM)Hmgu HOM Early adult 0.00
decreased circulating alkaline phosphatase level Tnxbtm1b(EUCOMM)Hmgu HOM   Early adult 7.24×10-05

Download data as:  TSV  XLS

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

lacZ Expression

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

Anatomy Images Zygosity Mutant Expr
Adrenal gland  Wholemount images heterozygote 100% (2 of 2)
Aorta  Wholemount images heterozygote 100% (2 of 2)
Bone  Wholemount images heterozygote 100% (2 of 2)
Cartilage tissue  Wholemount images heterozygote 100% (2 of 2)
Esophagus  Wholemount images heterozygote 100% (2 of 2)
Eye  Wholemount images heterozygote 50% (1 of 2)
Gall bladder  Wholemount images heterozygote 50% (1 of 2)
Heart  Wholemount images heterozygote 100% (2 of 2)
Kidney  Wholemount images heterozygote 100% (2 of 2)
Large intestine  Wholemount images heterozygote 100% (2 of 2)
Lower urinary tract  Wholemount images heterozygote 100% (2 of 2)
Lung  Wholemount images heterozygote 100% (2 of 2)
Lymph node  Wholemount images heterozygote 100% (2 of 2)
Mammary gland  Wholemount images heterozygote 50% (1 of 2)
Pancreas  Wholemount images heterozygote 100% (2 of 2)
Peripheral nervous system  Wholemount images heterozygote 100% (2 of 2)
Pituitary gland  Wholemount images heterozygote 100% (2 of 2)
Skeletal muscle  Wholemount images heterozygote 100% (2 of 2)
Skin  Wholemount images heterozygote 100% (2 of 2)
Small intestine  Wholemount images heterozygote 100% (2 of 2)
Spinal cord  Wholemount images heterozygote 100% (2 of 2)
Spleen  Wholemount images heterozygote 100% (2 of 2)
Stomach  Wholemount images heterozygote 100% (2 of 2)
Testis  Wholemount images heterozygote 50% (1 of 2)
Thymus  Wholemount images heterozygote 100% (2 of 2)
Thyroid gland  Wholemount images heterozygote 50% (1 of 2)
Trachea  Wholemount images heterozygote 100% (2 of 2)
Uterus  Wholemount images heterozygote 50% (1 of 2)
Vascular system  Wholemount images heterozygote 100% (2 of 2)
Brain N/A heterozygote 0.0% (0 of 2)
Brainstem N/A heterozygote 0.0% (0 of 2)
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cerebellum N/A heterozygote 0.0% (0 of 2)
Cerebral cortex N/A heterozygote 0.0% (0 of 2)
Hippocampus N/A heterozygote 0.0% (0 of 2)
Hypothalamus N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote 0.0% (0 of 2)
Oral epithelium N/A heterozygote 0.0% (0 of 2)
Ovary N/A heterozygote Not available
Oviduct N/A heterozygote Not available
Parathyroid gland N/A heterozygote 0.0% (0 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Prostate gland N/A heterozygote 0.0% (0 of 2)
Striatum N/A heterozygote 0.0% (0 of 2)
White adipose tissue N/A heterozygote 0.0% (0 of 2)

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

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

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

Anatomy Background staining in controls (WT)
adrenal gland 0.67% (4 of 598)
aorta 0.17% (1 of 598)
bone 0.0%
brain 0.84% (5 of 598)
brainstem 0.33% (2 of 598)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 598)
cerebellum 0.5% (3 of 598)
cerebral cortex 0.33% (2 of 598)
esophagus 1.66% (7 of 422)
eye 0.0%
gall bladder 0.0%
heart 0.33% (2 of 598)
hippocampus 0.5% (3 of 598)
hypothalamus 0.33% (2 of 598)
kidney 4.52% (27 of 598)
large intestine 5.35% (32 of 598)
liver 0.0%
lower urinary tract 0.17% (1 of 598)
lung 0.33% (2 of 598)
lymph node 0.17% (1 of 598)
mammary gland 0.0%
olfactory lobe 0.33% (2 of 598)
oral epithelium 0.0%
ovary 0.17% (1 of 598)
oviduct 0.0%
pancreas 0.84% (5 of 598)
parathyroid gland 0.17% (1 of 576)
peripheral nervous system 0.33% (2 of 598)
peyers patch 0.0%
pituitary gland 0.17% (1 of 598)
prostate gland 2.17% (13 of 598)
skeletal muscle 0.0%
skin 0.17% (1 of 598)
small intestine 5.35% (32 of 598)
spinal cord 0.5% (3 of 598)
spleen 0.5% (3 of 598)
stomach 3.68% (22 of 598)
striatum 0.5% (3 of 598)
testis 1% (6 of 598)
thymus 0.17% (1 of 598)
thyroid gland 3.01% (18 of 598)
trachea 0.5% (3 of 598)
uterus 0.33% (2 of 598)
vascular system 0.0%
white adipose tissue 0.0%

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 1.17% (6 of 511)
ear 0.2% (1 of 511)
embryo 0.39% (2 of 512)
eye 0.2% (1 of 511)
footplate 0.2% (1 of 511)
forebrain 0.2% (1 of 511)
forelimb 0.2% (1 of 511)
handplate 0.2% (1 of 511)
head 0.98% (5 of 511)
heart 0.2% (1 of 511)
hindbrain 1.17% (6 of 511)
hindlimb 0.2% (1 of 511)
liver 0.2% (1 of 506)
lung 0.2% (1 of 506)
mandibular process 0.2% (1 of 511)
maxillary process 0.2% (1 of 511)
midbrain 0.2% (1 of 511)
oral cavity 0.2% (1 of 506)
skin 0.2% (1 of 511)
tail 0.2% (1 of 511)
tail somite group 0.2% (1 of 511)

Associated Images

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

Echo

M-Mode Images

24 Images

Embryo LacZ

LacZ images wholemount

8 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

11 Images

X-ray

XRay Images Whole Body Lateral Orientation

12 Images

Adult LacZ

LacZ Images Wholemount

23 Images

X-ray

XRay Images Whole Body Dorso Ventral

12 Images

Auditory Brain Stem Response

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

4 Images

Human diseases caused by Tnxb 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.

The table below shows human diseases associated to Tnxb by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Ehlers-Danlos Syndrome, Classic-Like
Mitral valve prolapse, Quadricuspid aortic valve OMIM:606408
Classical-Like Ehlers-Danlos Syndrome Type 1
Mitral valve prolapse ORPHA:230839
Vesicoureteral Reflux 8
OMIM:615963

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Dermatitis Herpetiformis, Familial
Pruritus OMIM:601230
Pruritus, Hereditary Localized
Pruritus OMIM:177100
Lichen Amyloidosis
Pruritus ORPHA:49804
Ethanolaminosis
Cardiomegaly OMIM:227150
Cardiomyopathy, Dilated, 1I
Cardiomegaly, Dilated cardiomyopathy, Elevated circulating creatine kinase concentration OMIM:604765
Fetal Cytomegalovirus Syndrome
Anemia, Splenomegaly, Hepatomegaly ORPHA:294
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Anemia, Persistence of hemoglobin F, Abnormal bone structure, Hepatomegaly, Splenomegaly ORPHA:46532
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Splenomegaly, Hepatomegaly ORPHA:2274
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Recurrent pancreatitis, Splenomegaly, Hyperlipoproteinemia OMIM:118830
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly, Craniosynostosis, Hypoalbuminemia ORPHA:88643
Amyloidosis, Primary Localized Cutaneous, 2
Pruritus OMIM:613955
Proteasome-Associated Autoinflammatory Syndrome 5
Hypertriglyceridemia, Splenomegaly, Hepatomegaly OMIM:619175
Neutrophilia, Hereditary
Neutrophilia, Splenomegaly OMIM:162830
Hemoglobin H Disease
Hemolytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hepatomegaly, Splenomegaly OMIM:613978
Tyrosinemia Type 1
Hepatocellular carcinoma, Splenomegaly, Hepatomegaly, Rickets of the lower limbs ORPHA:882
Hyperbilirubinemia, Shunt, Primary
Jaundice, Hyperbilirubinemia, Erythroid hyperplasia, Reticulocytosis, Hepatomegaly, Anemia of ina... OMIM:237800
Red Cell Phospholipid Defect With Hemolysis
Intermittent jaundice, Hyperbilirubinemia, Splenomegaly, Reticulocytosis OMIM:179700
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Nonspherocytic hemolytic anemia, Jaundice, Splenomegaly OMIM:206400
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion OMIM:183350
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Splenomegaly OMIM:619813
Mantle Cell Lymphoma
Lymphadenopathy, Splenomegaly ORPHA:52416
Cholestasis, Progressive Familial Intrahepatic, 10
Increased total bilirubin, Jaundice, Acholic stools, Portal fibrosis, Increased serum bile acid c... OMIM:619868
Hypereosinophilic Syndrome, Idiopathic
Restrictive cardiomyopathy, Endocardial fibrosis, Hepatomegaly, Myeloproliferative disorder, Eosi... OMIM:607685
Ghosal Hematodiaphyseal Dysplasia
Anemia, Craniofacial hyperostosis, Abnormal cortical bone morphology, Splenomegaly ORPHA:1802
Hemochromatosis, Type 2B
Hepatic fibrosis, Cirrhosis, Anemia, Increased serum iron, Elevated transferrin saturation, Incre... OMIM:613313
Cholestasis, Progressive Familial Intrahepatic, 12
Jaundice, Hyperbilirubinemia, Cholestasis, Hepatomegaly, Increased serum bile acid concentration,... OMIM:620010
Immunodeficiency 69
Anemia, Pancytopenia, Hepatosplenomegaly, Increased circulating ferritin concentration, Thrombocy... OMIM:618963
Mu-Heavy Chain Disease
Anemia, Splenomegaly, Abnormal B cell count, Osteolysis, Lymphadenopathy, Hepatomegaly, Osteoporosis ORPHA:100024
Progressive Familial Intrahepatic Cholestasis
Jaundice, Cholestasis, Hepatomegaly, Hypocalcemia, Splenomegaly, Reduced bone mineral density ORPHA:172
Persistent Polyclonal B-Cell Lymphocytosis
Lymphocytosis, Splenomegaly, Hepatomegaly OMIM:606445
Immunodeficiency 16
Coombs-positive hemolytic anemia, Splenomegaly, Pancytopenia OMIM:615593
Beta-Thalassemia, Dominant Inclusion Body Type
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Persistence of he... OMIM:603902
Splenoportal Vascular Anomalies
Hepatic fibrosis, Cirrhosis, Anomalous splenoportal venous system, Hyperammonemia, Ascites, Splen... OMIM:271500
Hypertriglyceridemia, Transient Infantile
Hepatic fibrosis, Hepatic steatosis, Hepatomegaly, Hypertriglyceridemia, Splenomegaly OMIM:614480
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Anemia, Congenital hemolytic anemia, Increased serum iron, Unconjugated hyperbilirubinemia, Eleva... ORPHA:766
Erythroleukemia, Familial, Susceptibility To
Acute myeloid leukemia, Anemia, Leukemia, Erythroid hyperplasia, Hepatomegaly, Thrombocytopenia, ... OMIM:133180
Hemoglobin D Disease
Anemia, Reduced alpha/beta synthesis ratio, HbS hemoglobin, Increased HbA2 hemoglobin, Reduced he... ORPHA:90039
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Dilated cardiomyopathy, Elevated circulating creatine kinase concentration, Hyperammonemia, Hepat... OMIM:600649
Congenital Disorder Of Glycosylation, Type Iio
Hypercholesterolemia, Cirrhosis, Decreased circulating ceruloplasmin concentration, Hepatosplenom... OMIM:616828
Hemophagocytic Lymphohistiocytosis, Familial, 4
Anemia, Hypertriglyceridemia, Jaundice, Lymphadenopathy, Increased circulating ferritin concentra... OMIM:603552
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Anemia, Hypersplenism, Osteopenia, Hepatomegaly, Hypocholesterolemia, Thrombocytopenia, Splenomegaly OMIM:610539
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Thrombocytopenia, Abnormal hemoglobin, Splenomegaly ORPHA:231393
Infantile Sialic Acid Storage Disease
Osteopenia, Hepatomegaly, Cardiomegaly, Ascites, Vacuolated lymphocytes, Splenomegaly, Conjugated... OMIM:269920
Combined Oxidative Phosphorylation Deficiency 33
Left ventricular hypertrophy, Elevated circulating creatine kinase concentration, Hepatomegaly, C... OMIM:617713
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Anemia, Cirrhosis, Jaundice, Erythroid hyperplasia, Hepatosplenomegaly, Decreased mean corpuscula... OMIM:616860
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin, Splenomegaly, Microcytic anemia ORPHA:231242
Dysplastic Cortical Hyperostosis
Increased bone mineral density, Abnormal cortical bone morphology, Splenomegaly, Hepatomegaly ORPHA:2204
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Hepatitis, Lymphopenia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemi... ORPHA:444463
Hemochromatosis, Type 1
Splenomegaly, Cirrhosis, Increased serum iron, Hepatocellular carcinoma, Increased circulating fe... OMIM:235200
Niemann-Pick Disease, Type B
Sea-blue histiocytosis, Anemia, Increased LDL cholesterol concentration, Decreased HDL cholestero... OMIM:607616
Hemolytic Disease Of Fetus And Newborn, Rh-Induced
Fetal ascites, Splenomegaly, Hepatomegaly OMIM:619462
Bile Acid Synthesis Defect, Congenital, 5
Hepatic fibrosis, Increased total iron binding capacity, Jaundice, Hyperbilirubinemia, Portal fib... OMIM:616278
Galactosemia Iii
Jaundice, Hypergalactosemia, Splenomegaly, Hepatomegaly OMIM:230350
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Anemia, Hepatosplenomegaly, Lymphadenopathy, Increased circulating ferritin concentration, Hemoph... OMIM:613101
Thrombocytopenia, Anemia, And Myelofibrosis
Anemia, Anisopoikilocytosis, Myelofibrosis, Thrombocytopenia, Splenomegaly OMIM:617441
Congenital Bile Acid Synthesis Defect Type 1
Cirrhosis, Splenomegaly, Jaundice, Biliary tract abnormality, Neonatal cholestatic liver disease,... ORPHA:79301
Hemochromatosis, Type 2A
Cirrhosis, Increased serum iron, Dilated cardiomyopathy, Increased circulating ferritin concentra... OMIM:602390
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Hepatic fibrosis, Jaundice, Elevated circulating gamma-aminobutyric acid concentration, Hepatic b... OMIM:619658
Autoinflammation With Episodic Fever And Lymphadenopathy
Lymphadenopathy, Hepatomegaly, Splenomegaly, Microcytic anemia, Recurrent tonsillitis OMIM:618852
Cholestasis-Lymphedema Syndrome
Cirrhosis, Jaundice, Neonatal cholestatic liver disease, Hepatomegaly, Hyperlipidemia, Splenomega... OMIM:214900
Mitochondrial Complex I Deficiency, Nuclear Type 36
Cardiomegaly, Hyperalaninemia, Hyperprolinemia, Perimembranous ventricular septal defect OMIM:619170
Trimethylaminuria
Anemia, Neutropenia, Splenomegaly OMIM:602079
Autoimmune Hemolytic Anemia, Cold Type
Hemolytic anemia, Abnormal leukocyte morphology, Splenomegaly ORPHA:228312
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Leukopenia, Anemia, Enlarged kidney, Hepatomegaly, Extramedullary hematopoiesis, Thrombocytopenia... OMIM:615285
Alpha-Heavy Chain Disease
Anemia, Hypocalcemia, Lymphadenopathy, Hepatomegaly, Ascites, Splenomegaly ORPHA:100025
Cholestasis-Lymphedema Syndrome
Cirrhosis, Jaundice, Acholic stools, Biliary tract abnormality, Neonatal cholestatic liver diseas... ORPHA:1414
Mitochondrial Complex I Deficiency, Nuclear Type 39
Anemia, Perimembranous ventricular septal defect, Atrial septal defect, Hypertrophic cardiomyopat... OMIM:620135
Sea-Blue Histiocyte Disease
Sea-blue histiocytosis, Thrombocytopenia, Splenomegaly, Cirrhosis OMIM:269600
Beta-Thalassemia
Anemia, Abnormality of iron homeostasis, Hepatitis, Hypertrophic cardiomyopathy, Hepatomegaly, Ch... ORPHA:848
Portal Hypertension, Noncirrhotic, 1
Portal hypertension, Splenomegaly, Hepatomegaly OMIM:617068
Mast Cell Sarcoma
Mastocytosis, Lymphadenopathy, Hepatomegaly, Mediastinal lymphadenopathy, Splenomegaly ORPHA:66661
Combined Oxidative Phosphorylation Deficiency 41
Cardiomegaly, Anemia, Elevated circulating creatine kinase concentration OMIM:618838
Lipodystrophy, Congenital Generalized, Type 3
Hepatosplenomegaly, Hepatic steatosis, Hepatomegaly, Hypercholesterolemia, Hypocalcemia, Hypertri... OMIM:612526
Congenital Toxoplasmosis
Anemia, Ascites, Jaundice, Lymphadenopathy, Hepatomegaly, Cardiomegaly, Thrombocytopenia ORPHA:858
Immunodeficiency 42
Hypoplasia of the thymus, Splenomegaly, Hepatomegaly OMIM:616622
Neuraminidase Deficiency
Epiphyseal stippling, Bone-marrow foam cells, Hepatomegaly, Cardiomegaly, Ascites, Vacuolated lym... OMIM:256550
Immunodeficiency 48
Absence of CD8-positive T cells, Splenomegaly, Hepatomegaly OMIM:269840
Alpha-1-Antitrypsin Deficiency
Cirrhosis, Reduced serum alpha-1-antitrypsin, Hepatocellular carcinoma, Splenomegaly OMIM:613490
Anemia, Hypochromic Microcytic, With Iron Overload 2
Anemia, Elevated transferrin saturation, Poikilocytosis, Decreased mean corpuscular volume, Incre... OMIM:615234
Apolipoprotein C-Ii Deficiency
Splenomegaly, Decreased circulating apolipoprotein C-II concentration, Hepatomegaly, Hypercholest... OMIM:207750
Glycosylphosphatidylinositol Biosynthesis Defect 1
Portal hypertension, Portal vein thrombosis, Splenomegaly, Hepatomegaly OMIM:610293
Glycogen Storage Disease Ixa1
Hyperuricemia, Hepatomegaly, Hypercholesterolemia, Hypertriglyceridemia, Splenomegaly OMIM:306000
Carnitine Deficiency, Systemic Primary
Endocardial fibroelastosis, Microvesicular hepatic steatosis, Decreased plasma carnitine, Decreas... OMIM:212140
Cholesteryl Ester Storage Disease
Cirrhosis, Jaundice, Hepatomegaly, Hypercholesterolemia, Hypertriglyceridemia, Splenomegaly ORPHA:75234
Lymphoproliferative Syndrome, X-Linked, 2
Hepatitis, Pancytopenia, Increased circulating ferritin concentration, Hemophagocytosis, Hepatome... OMIM:300635
Familial Atrial Myxoma
Bacterial endocarditis, Pulmonic valve myxoma, Jaundice, Cardiac myxoma, Cholestasis, Cardiomegal... ORPHA:615
Glut1 Deficiency Syndrome 2
Reduced haptoglobin level, Hemolytic anemia, Splenomegaly, Reticulocytosis OMIM:612126
Immunodeficiency 84
Splenomegaly, B lymphocytopenia OMIM:619437
Harderoporphyria
Hemolytic anemia, Reticulocytosis, Neonatal hyperbilirubinemia, Increased circulating ferritin co... OMIM:618892
Anemia, Congenital Dyserythropoietic, Type Ii
Jaundice, Reticulocytosis, Cholelithiasis, Anemia of inadequate production, Splenomegaly OMIM:224100
Cardiomyopathy, Familial Hypertrophic, 27
Concentric hypertrophic cardiomyopathy, Ventricular septal hypertrophy, Hypertrophic cardiomyopat... OMIM:618052
Cholestasis, Progressive Familial Intrahepatic, 1
Cirrhosis, Jaundice, Rickets, Osteopenia, Hepatomegaly, Cholelithiasis, Intrahepatic cholestasis ... OMIM:211600
Alpha-Thalassemia
Anemia, Hemolytic anemia, Hypersplenism, Jaundice, Cholelithiasis, Abnormal hemoglobin, Splenomeg... ORPHA:846
Spherocytosis, Type 4
Hemolytic anemia, Jaundice, Hyperbilirubinemia, Reticulocytosis, Splenomegaly, Spherocytosis OMIM:612653
X-Linked Sideroblastic Anemia
Anemia, Abnormality of iron homeostasis, Splenomegaly ORPHA:75563
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Cardiomegaly, Hyperalaninemia, Hyperprolinemia, Hepatomegaly OMIM:619064
Overhydrated Hereditary Stomatocytosis
Stomatocytosis, Hemolytic anemia, Jaundice, Hyperbilirubinemia, Reticulocytosis, Hepatomegaly, Sp... OMIM:185000
Glycogen Storage Disease Ixb
Increased hepatic glycogen content, Hyperuricemia, Splenomegaly, Hepatomegaly OMIM:261750
Leukocyte Adhesion Deficiency, Type Iii
Abnormal lymph node morphology, Anemia, Hepatosplenomegaly, Hepatomegaly, Extramedullary hematopo... OMIM:612840
Pyruvate Kinase Deficiency Of Red Cells
Reduced haptoglobin level, Unconjugated hyperbilirubinemia, Jaundice, Erythroid hyperplasia, Reti... OMIM:266200
Mucopolysaccharidosis, Type Iiib
Asymmetric septal hypertrophy, Dense calvaria, Hepatomegaly, Cardiomegaly, Splenomegaly OMIM:252920
Ras-Associated Autoimmune Leukoproliferative Disorder
Hemolytic anemia, Leukemia, Lymphocytosis, Pancytopenia, Autoimmune thrombocytopenia, Follicular ... OMIM:614470
Immunodeficiency 27A
Anemia, Hepatosplenomegaly, Lymphadenopathy, Thrombocytosis, Leukocytosis, Histiocytosis, Enlarge... OMIM:209950
Dehydrated Hereditary Stomatocytosis 2
Increased mean corpuscular hemoglobin concentration, Hemolytic anemia, Jaundice, Anisopoikilocyto... OMIM:616689
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Jaundice, Hyperbilirubinemia, Reticulocytosis, Cholecystitis, Cholelithiasis, ... OMIM:235700
Fish-Eye Disease
Lymphadenopathy, Decreased HDL cholesterol concentration, Splenomegaly, Hepatomegaly ORPHA:79292
Carnitine Palmitoyltransferase I Deficiency
Elevated circulating creatine kinase concentration, Hepatic steatosis, Transient hyperlipidemia, ... OMIM:255120
Osteopetrosis, Autosomal Recessive 8
Anemia, Hepatomegaly, Thrombocytopenia, Osteopetrosis, Splenomegaly OMIM:615085
Combined Oxidative Phosphorylation Deficiency 8
Hypertrophic cardiomyopathy, Cardiomegaly OMIM:614096
Attrv122I Amyloidosis
Anemia, Restrictive cardiomyopathy, Left ventricular hypertrophy, Increased circulating NT-proBNP... ORPHA:85451
Combined Oxidative Phosphorylation Deficiency 10
Hyperalaninemia, Pericardial effusion, Hypertrophic cardiomyopathy, Hyperammonemia, Cardiomegaly,... OMIM:614702
Spherocytosis, Type 1
Hemolytic anemia, Jaundice, Hyperbilirubinemia, Reticulocytosis, Cholelithiasis, Splenomegaly, Sp... OMIM:182900
Ornithine Transcarbamylase Deficiency
Hyperammonemia, Splenomegaly ORPHA:664
Immunodeficiency 76
T lymphocytopenia, B lymphocytopenia, Lymphopenia, Lymphadenopathy, Splenomegaly OMIM:619164
B-Cell Expansion With Nfkb And T-Cell Anergy
Increased B cell count, Splenomegaly OMIM:616452
Spherocytosis, Type 2
Hemolytic anemia, Jaundice, Hyperbilirubinemia, Reticulocytosis, Splenomegaly, Acanthocytosis, Sp... OMIM:616649
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Exocrine pancreatic insufficiency, Jaundice, Osteopenia, Hepatomegaly, Calvarial hyperostosis, An... OMIM:612714
Indolent Systemic Mastocytosis
Splenomegaly, Mastocytosis, Lymphadenopathy, Increased proportion of CD25+ mast cells, Hepatomega... ORPHA:98848
Anemia, Congenital Dyserythropoietic, Type Ib
Anemia, Jaundice, Erythroid hyperplasia, Reticulocytosis, Poikilocytosis, Anisocytosis, Hepatomeg... OMIM:615631
Schnitzler Syndrome
Anemia, Increased bone mineral density, Lymphadenopathy, Leukocytosis, Hepatomegaly, Splenomegaly ORPHA:37748
Osteopetrosis, Autosomal Recessive 4
Anemia, Increased bone mineral density, Reticulocytosis, Hepatomegaly, Thrombocytopenia, Osteopet... OMIM:611490
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
T lymphocytopenia, Increased proportion of transitional B cells, Lymphadenopathy, Decreased propo... OMIM:615513
Cirrhotic Cardiomyopathy
Cirrhosis, Abnormal circulating A-type atrial natriuretic peptide concentration, Jaundice, Left v... ORPHA:57777
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Periportal fibrosis, Hepatocellular necrosis, Decreased plasma carnitine, Elevated circulating cr... OMIM:201475
Congenital Myopathy 8
Cardiomegaly OMIM:618654
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly OMIM:613576
Osteopetrosis, Autosomal Dominant 3
Osteopenia, Anemia, Splenomegaly, Hepatomegaly OMIM:618107
Timothy Syndrome
Patent foramen ovale, Ventricular septal defect, Cardiomegaly, Hypocalcemia, Tetralogy of Fallot OMIM:601005
Mulibrey Nanism
Pericardial constriction, Myocardial fibrosis, Thickened cortex of long bones, Hepatomegaly, Card... OMIM:253250
Bile Acid Synthesis Defect, Congenital, 1
Cirrhosis, Jaundice, Acholic stools, Intrahepatic cholestasis, Rickets, Giant cell hepatitis, Hep... OMIM:607765
Attrv30M Amyloidosis
Cardiomegaly, Cardiomyopathy ORPHA:85447
Lymphoproliferative Syndrome 1
Leukopenia, Anemia, Pericardial effusion, Pancytopenia, Autoimmune thrombocytopenia, Autoimmune h... OMIM:613011
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly OMIM:300886
Familial Cold Autoinflammatory Syndrome 2
Elevated circulating C-reactive protein concentration, Lymphadenopathy, Splenomegaly, Leukocytosis OMIM:611762
Alpha-Thalassemia-Myelodysplastic Syndrome
Neutropenia, HbH hemoglobin, Thrombocytopenia, Acute leukemia, Splenomegaly, Microcytic anemia ORPHA:231401
Hemoglobin E Disease
Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Hypochromi... ORPHA:2133
Erythrocytosis, Familial, 8
Increased hematocrit, Polycythemia, Increased hemoglobin, Splenomegaly OMIM:222800
Myelofibrosis
Splenomegaly, Myelofibrosis, Myeloproliferative disorder OMIM:254450
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Asplenia, Splenomegaly, HbS hemoglobin, Reticulocytosis, Persistence of hemoglobin F, Hypochromic... ORPHA:251380
Spherocytosis, Type 5
Hemolytic anemia, Jaundice, Reticulocytosis, Abnormal platelet count, Abnormal leukocyte count, S... OMIM:612690
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Acute myeloid leukemia, Anemia, Reduced natural killer cell count, Hypertriglyceridemia, Hyperbil... ORPHA:158057
Cholestasis, Progressive Familial Intrahepatic, 3
Cirrhosis, Jaundice, Portal inflammation, Portal fibrosis, Intrahepatic cholestasis, Bile duct pr... OMIM:602347
Thrombocythemia 1
Thrombocytosis, Splenomegaly OMIM:187950
Follicular Lymphoma
Abnormality of the peritoneum, Lymphadenopathy, Splenomegaly, Mediastinal lymphadenopathy ORPHA:545
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Ventricular hypertrophy, Hyperalaninemia, Hypertrophic cardiomyopathy, Hyperammonemia, Cardiomegaly OMIM:619051
Symptomatic Form Of Hemochromatosis Type 1
Splenomegaly, Cirrhosis, Abnormality of iron homeostasis, Elevated transferrin saturation, Hepato... ORPHA:465508
Tangier Disease
Left ventricular hypertrophy, Decreased HDL cholesterol concentration, Hepatomegaly, Decreased ci... OMIM:205400
Hepatoportal Sclerosis
Nodular regenerative hyperplasia of liver, Leukopenia, Anemia, Periportal fibrosis, Hypersplenism... ORPHA:64743
Lymphoproliferative Syndrome, X-Linked, 1
Fulminant hepatitis, Lymphocytosis, Pancytopenia, Lymphadenopathy, Thrombocytopenia, Hemophagocyt... OMIM:308240
Hurler-Scheie Syndrome
Splenomegaly, Abnormality of the tonsils, Hepatomegaly, Abnormal heart valve morphology, Cardiomy... ORPHA:93476
Felty Syndrome
Neutropenia, Splenomegaly OMIM:134750
Pseudo-Torch Syndrome 3
Lymphadenitis, Anemia, Increased circulating ferritin concentration, Leukocytosis, Cardiomegaly, ... OMIM:618886
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Anemia, Pancytopenia, Increased circulating ferritin concentration, Hemophagocytosis, Hypertrigly... OMIM:618398
Systemic-Onset Juvenile Idiopathic Arthritis
Pericarditis, Lymphadenopathy, Elevated circulating C-reactive protein concentration, Hepatomegal... ORPHA:85414
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Elevated circulating creatine kinase concentration, Hepatic steatosis, Hyperammonemia, Hepatomega... ORPHA:42
Cholestasis, Progressive Familial Intrahepatic, 9
Jaundice, Malformation of the hepatic ductal plate, Intrahepatic cholestasis, Fibro-obliterative ... OMIM:619849
Congenitally Uncorrected Transposition Of The Great Arteries
Ventricular septal defect, Abnormal mitral valve morphology, Levotransposition of the great arter... ORPHA:860
Beta-Thalassemia Intermedia
Cholelithiasis, Cirrhosis, Abnormality of the liver, Abnormality of iron homeostasis, Increased H... ORPHA:231222
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Exercise-induced hemolysis, Increased mean corpuscular hemoglobin concentration, Hepatitis, Jaund... OMIM:194380
Immunodeficiency 64 With Lymphoproliferation
Decreased proportion of CD4-positive T cells, Hepatosplenomegaly, Autoimmune thrombocytopenia, In... OMIM:618534
Sickle Cell Disease
Cholelithiasis, Hemolytic anemia, Target cells, Jaundice, Splenic infarction, Increased red cell ... OMIM:603903
Acquired Idiopathic Sideroblastic Anemia
Acute myeloid leukemia, Neutropenia, Megaloblastic erythroid hyperplasia, Granulocytopenia, Normo... ORPHA:75564
Dehydrated Hereditary Stomatocytosis
Intermittent jaundice, Increased mean corpuscular hemoglobin concentration, Increased total bilir... ORPHA:3202
Hemophagocytic Lymphohistiocytosis, Familial, 1
Increased total bilirubin, Leukopenia, Anemia, Increased VLDL cholesterol concentration, Jaundice... OMIM:267700
Leishmaniasis
Leukopenia, Anemia, Abnormal macrophage morphology, Pancytopenia, Lymphadenopathy, Hepatomegaly, ... ORPHA:507
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Heinz bodies, Unconjugated hyperbilirubinemia, Jaundice, Fava bean-induced hemolytic anemia, Reti... OMIM:300908
Classic Hodgkin Lymphoma
Osteolysis, Lymphadenopathy, Bone marrow hypocellularity, Hepatomegaly, Splenomegaly ORPHA:391
Immunodeficiency 32B
Anemia, Monocytopenia, Neutrophilia, Hepatomegaly, Eosinophilia, Impaired oxidative burst, Thromb... OMIM:226990
Nephronophthisis 19
Hepatic fibrosis, Malformation of the hepatic ductal plate, Bile duct proliferation, Cholestasis,... OMIM:616217
Macrophage Activation Syndrome
Abnormal natural killer cell count, Anemia, Hypertriglyceridemia, Hepatitis, Lymphadenopathy, Inc... ORPHA:158061
Griscelli Syndrome Type 2
Jaundice, Pancytopenia, Lymphadenopathy, Hemophagocytosis, Hepatomegaly, Hyperlipidemia, Neutrope... ORPHA:79477
Cholestasis, Progressive Familial Intrahepatic, 2
Intermittent jaundice, Cirrhosis, Hepatocellular carcinoma, Intrahepatic cholestasis, Hepatomegal... OMIM:601847
Anemia, Congenital Dyserythropoietic, Type Iv
Reduced haptoglobin level, Anemia, Reduced hematocrit, Hemolytic anemia, Circulating nucleated re... OMIM:613673
Adult-Onset Still Disease
Abnormal circulating lipid concentration, Hepatitis, Neutrophilia, Generalized lymphadenopathy, P... ORPHA:829
Lysosomal Acid Lipase Deficiency
Leukopenia, Hepatic fibrosis, Cirrhosis, Anemia, Periportal fibrosis, Increased hepatic echogenic... OMIM:278000
Cryohydrocytosis
Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis OMIM:185020
Autoimmune Lymphoproliferative Syndrome
Chronic noninfectious lymphadenopathy, Coombs-positive hemolytic anemia, Neutropenia in presence ... OMIM:601859
Cantu Syndrome
Congenital hypertrophy of left ventricle, Pericardial effusion, Bicuspid aortic valve, Cardiomega... OMIM:239850
Thrombocytopenia With Beta-Thalassemia, X-Linked
Splenomegaly, Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Thrombocytopen... OMIM:314050
Congenital Tricuspid Valve Dysplasia
Patent foramen ovale, Cardiomegaly, Pericardial effusion, Abnormal tricuspid valve leaflet morpho... ORPHA:555874
Gaucher Disease, Type Iiic
Splenomegaly, Mitral stenosis, Pancytopenia, Hepatomegaly, Cardiomegaly, Aortic valve calcificati... OMIM:231005
Immunodeficiency 98 With Autoinflammation, X-Linked
B lymphocytopenia, Myelofibrosis, Autoimmune hemolytic anemia, Lymphadenopathy, Hemophagocytosis,... OMIM:301078
Hyperlipoproteinemia, Type I
Splenomegaly, Jaundice, Hepatosplenomegaly, Lactescent serum, Hyperlipidemia, Hypercholesterolemi... OMIM:238600
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Decreased proportion of marginal zone B cells, Coombs-positive hemolytic anemia, Autoimmune throm... OMIM:619375
Neurooculocardiogenitourinary Syndrome
Patent foramen ovale, Cardiomegaly, Ventricular septal defect, Atrial septal defect OMIM:618652
Fixed Subaortic Stenosis
Atrioventricular canal defect, Bacterial endocarditis, Ventricular septal defect, Abnormal cardia... ORPHA:3092
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Intraalveolar phospholipid accumulation, Splenomegaly, Leukocytosis OMIM:618042
Gaucher Disease Type 1
Leukopenia, Cirrhosis, Anemia, Pericardial effusion, Increased bone mineral density, Hypersplenis... ORPHA:77259
Bile Acid Synthesis Defect, Congenital, 2
Jaundice, Hyperbilirubinemia, Intrahepatic cholestasis, Hepatomegaly, Splenomegaly OMIM:235555
Immunodeficiency 97 With Autoinflammation
Reduced natural killer cell count, Monocytopenia, Decreased proportion of CD4+CD25+ regulatory T ... OMIM:619802
Portal Hypertension, Noncirrhotic, 2
Nodular regenerative hyperplasia of liver, Hepatocellular carcinoma, Hepatomegaly, Portal hyperte... OMIM:619463
Gamma-Heavy Chain Disease
Anemia, Autoimmune thrombocytopenia, Osteolysis, Autoimmune hemolytic anemia, Lymphadenopathy, He... ORPHA:100026
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Myofiber disarray, Pericardial effusion, Ventricular septal hypertrophy,... OMIM:115197
Hyperlipoproteinemia, Type Id
Recurrent pancreatitis, Splenomegaly, Decreased LDL cholesterol concentration, Hyperlipoproteinem... OMIM:615947
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis
Neutrophilia, Osteolysis, Periostitis, Osteopenia, Hepatomegaly, Elevated circulating C-reactive ... OMIM:612852
Glycogen Storage Disease Ixc
Cirrhosis, Increased hepatic glycogen content, Bile duct proliferation, Hepatomegaly, Hypertrigly... OMIM:613027
Overhydrated Hereditary Stomatocytosis
Intermittent jaundice, Stomatocytosis, Hemolytic anemia, Abnormal mean corpuscular volume, Decrea... ORPHA:3203
Hb Bart'S Hydrops Fetalis
Anemia, Pericarditis, Hepatomegaly, Abnormal hemoglobin, Splenomegaly ORPHA:163596
Sea-Blue Histiocytosis
Sea-blue histiocytosis, Hepatomegaly, Mediastinal lymphadenopathy, Thrombocytopenia, Splenomegaly ORPHA:158029
Arterial Calcification, Generalized, Of Infancy, 2
Cardiomegaly, Hypophosphatemic rickets, Right atrial enlargement OMIM:614473
Chronic Myeloid Leukemia
Abnormal granulocyte morphology, Abnormal basophil morphology, Thrombocytosis, Leukocytosis, Myel... ORPHA:521
Hemophagocytic Lymphohistiocytosis, Familial, 2
Increased total bilirubin, Leukopenia, Anemia, Jaundice, Pancytopenia, Hepatosplenomegaly, Lympha... OMIM:603553
Omenn Syndrome
Anemia, Hypoplasia of the thymus, B lymphocytopenia, Severe B lymphocytopenia, Lymphadenopathy, H... OMIM:603554
Acute Panmyelosis With Myelofibrosis
Acute myeloid leukemia, Acute myelomonocytic leukemia, Lymphocytosis, Myelofibrosis, Pancytopenia... ORPHA:86843
Polycythemia Vera
Increased red blood cell mass, Increased hematocrit, Thrombocytosis, Leukocytosis, Thrombocytopen... OMIM:263300
Combined Immunodeficiency Due To Partial Rag1 Deficiency
T lymphocytopenia, B lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, Autoi... ORPHA:231154
Glycogen Storage Disease Ii
Elevated circulating creatine kinase concentration, Increased circulating NT-proBNP concentration... OMIM:232300
Drug-Induced Autoimmune Hemolytic Anemia
Increased total bilirubin, Autoimmune hemolytic anemia, Splenomegaly ORPHA:90037
Refsum Disease, Classic
Cardiomegaly, Elevated circulating phytanic acid concentration, Cardiomyopathy OMIM:266500
Anemia, Congenital Dyserythropoietic, Type Ia
Hemolytic anemia, Hyperbilirubinemia, Erythroid hyperplasia, Reticulocytosis, Macrocytic dyseryth... OMIM:224120
Elliptocytosis 1
Elliptocytosis, Hemolytic anemia, Jaundice, Splenomegaly OMIM:611804
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Ventricular septal defect, Hypertrophic cardiomyopathy, Osteopenia, Decreased skull ossification,... OMIM:616897
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Cholelithiasis, Spontaneous hemolytic crises, Jaundice, Cholecystitis, Impaired neutrophil bacter... OMIM:613470
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome
Splenomegaly, Pancytopenia OMIM:614979
Sclerosing Cholangitis, Neonatal
Biliary cirrhosis, Cirrhosis, Sclerosing cholangitis, Jaundice, Acholic stools, Portal fibrosis, ... OMIM:617394
Idiopathic Pulmonary Hemosiderosis
Iron deficiency anemia, Cardiomegaly, Hepatomegaly, Hepatosplenomegaly ORPHA:99931
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Increased total bilirubin, Elevated circulating creatinine concentration, Decreased plasma free c... OMIM:608836
Mcleod Syndrome
Reduced haptoglobin level, Dilated cardiomyopathy, Elevated circulating creatine kinase concentra... OMIM:300842
Alpha-N-Acetylgalactosaminidase Deficiency
Cardiomegaly ORPHA:3137
Cold Agglutinin Disease
Hemolytic anemia, Lymphadenopathy, Splenomegaly, Hepatomegaly ORPHA:56425
Essential Thrombocythemia
Abnormal platelet morphology, Splenomegaly, Myelofibrosis, Acute leukemia ORPHA:3318
Hereditary Elliptocytosis
Stomatocytosis, Congenital hemolytic anemia, Hemolytic anemia, Elliptocytosis, Jaundice, Hyperbil... ORPHA:288
Bile Acid Synthesis Defect, Congenital, 3
Cirrhosis, Hepatitis, Jaundice, Hyperbilirubinemia, Acholic stools, Hepatic bridging fibrosis, In... OMIM:613812
Coronary Arterial Fistula
Patent foramen ovale, Cardiomegaly, Bacterial endocarditis, Bicuspid aortic valve, Atrial septal ... ORPHA:2041
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Elevated circulating acylcarnitine concentration, Decreased plasma free carnitine, Decreased plas... ORPHA:228308
Heterotaxy, Visceral, 1, X-Linked
Subvalvular aortic stenosis, Atrioventricular canal defect, Asplenia, Hepatomegaly, Abdominal sit... OMIM:306955
Short Fifth Metacarpals-Insulin Resistance Syndrome
Splenomegaly, Spherocytosis ORPHA:66518
Danon Disease
Dilated cardiomyopathy, Myocardial fibrosis, Elevated circulating creatine kinase concentration, ... OMIM:300257
Glycogen Storage Disease Xii
Reduced haptoglobin level, Anemia, Normocytic anemia, Jaundice, Hyperbilirubinemia, Elevated circ... OMIM:611881
Sitosterolemia 1
Stomatocytosis, Hypercholesterolemia, Anemia, Reduced haptoglobin level, Reticulocytosis, Elevate... OMIM:210250
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Periportal fibrosis, Hepatocellular necrosis, Depletion of mitochondrial DNA in liver, Jaundice, ... OMIM:251880
Infantile Liver Failure Syndrome 3
Jaundice, Hepatic bridging fibrosis, Hepatic steatosis, Hyperammonemia, Cholestasis, Hepatomegaly... OMIM:618641
Hsd10 Disease, Infantile Type
Hypertrophic cardiomyopathy, Hyperammonemia, Cardiomegaly ORPHA:391428
Adams-Oliver Syndrome 5
Patent foramen ovale, Splenomegaly, Hypersplenism, Right ventricular hypertrophy, Portal vein thr... OMIM:616028
Craniofaciofrontodigital Syndrome
Ventricular septal defect, Pericardial effusion, Bicuspid aortic valve, Atrial septal defect, Ost... ORPHA:363705
Leigh Syndrome With Nephrotic Syndrome
Cardiomegaly, Hypoalbuminemia ORPHA:255249
Congenital Disorder Of Glycosylation, Type It
Ventricular septal defect, Hepatitis, Dilated cardiomyopathy, Intrahepatic cholestasis, Hepatic s... OMIM:614921
Isolated Right Ventricular Hypoplasia
Patent foramen ovale, Atrial septal defect, Muscular ventricular septal defect, Cardiomegaly, Rig... ORPHA:439
Renal-Hepatic-Pancreatic Dysplasia 1
Pancreatic cysts, Asplenia, Biliary cirrhosis, Hepatic fibrosis, Cirrhosis, Enlarged kidney, Poly... OMIM:208540
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Lymphadenitis, Hepatic fibrosis, Anemia, Dilated cardiomyopathy, Elevated circulating creatine ki... OMIM:615895
Gray Platelet Syndrome
Thrombocytopenia, Splenomegaly, Myelofibrosis, Abnormal number of alpha granules OMIM:139090
Caroli Disease
Hepatic fibrosis, Biliary cirrhosis, Cirrhosis, Periportal fibrosis, Liver abscess, Jaundice, Cho... ORPHA:53035
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Aortic valve stenosis, Cardiomegaly, Abnormal atrioventricular valve morphology, Mitral valve pro... ORPHA:324410
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Ventricular hypertrophy, Microvesicular hepatic steatosis, Hemolytic anemia, Hepatocellular necro... OMIM:618278
Hereditary Spherocytosis
Increased mean corpuscular hemoglobin concentration, Anemia, Spontaneous hemolytic crises, Restri... ORPHA:822
Histiocytosis-Lymphadenopathy Plus Syndrome
Pancreatic hypoplasia, Retroperitoneal fibrosis, Ventricular septal defect, Pulmonic stenosis, Mi... OMIM:602782
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
B lymphocytopenia, Generalized lymphadenopathy, Lymphopenia, Abnormally low T cell receptor excis... OMIM:602450
Abetalipoproteinemia
Hepatic fibrosis, Cirrhosis, Anemia, Decreased LDL cholesterol concentration, Hyperbilirubinemia,... ORPHA:14
Aorta Coarctation
Aortic valve atresia, Perimembranous ventricular septal defect, Bicuspid aortic valve, Abnormal l... ORPHA:1457
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Left ventricular hypertrophy, Elevated circulating creatine kinase concentration, Hypertrophic ca... ORPHA:308552
Amyloidosis, Hereditary, Transthyretin-Related
Cardiomegaly, Cardiomyopathy OMIM:105210
Parenteral Nutrition-Associated Cholestasis
Hepatic fibrosis, Biliary hyperplasia, Cirrhosis, Jaundice, Abnormal circulating fatty-acid conce... ORPHA:567983
Gaucher Disease, Perinatal Lethal
Anemia, Ascites, Hepatosplenomegaly, Hepatomegaly, Cardiomegaly, Thrombocytopenia, Splenomegaly OMIM:608013
Budd-Chiari Syndrome
Cirrhosis, Jaundice, Cholecystitis, Hepatomegaly, Portal hypertension, Ascites, Peritonitis, Sple... ORPHA:131
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Cardiomegaly, Right ventricular hypertrophy, Elevated circulating creatine kinase concentration ORPHA:268
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Cardiomegaly OMIM:613320
Arterial Calcification, Generalized, Of Infancy, 1
Cardiomegaly, Hypophosphatemic rickets, Dilated cardiomyopathy OMIM:208000
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Pancreatic cysts, Sagittal craniosynostosis, Hepatic fibrosis, Pancreatic hypoplasia, Hepatitis, ... OMIM:610199
Mogs-Cdg
Left ventricular hypertrophy, Atrial septal defect, Hepatosplenomegaly, Hepatomegaly, Cardiomegal... ORPHA:79330
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Patent foramen ovale, Bicuspid aortic valve, Mitral valve prolapse, Left ventricular hypertrophy,... OMIM:245600
Sandhoff Disease
Cardiomegaly, Hepatomegaly, Hepatosplenomegaly OMIM:268800
Hemophagocytic Syndrome Associated With An Infection
Abnormal natural killer cell count, Abnormal T cell subset distribution, Anemia, Hyperproteinemia... ORPHA:158048
Cantú Syndrome
Hypertrophic cardiomyopathy, Cardiomegaly, Abnormal heart valve morphology, Osteoporosis ORPHA:1517
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Abnormality of the thymus, Cardiomegaly, Abnormal bone ossification, Osteopenia ORPHA:2463
Beck-Fahrner Syndrome
Cardiomegaly, Ventricular septal defect OMIM:618798
Gaucher Disease Type 3
Mitral valve calcification, Splenomegaly, Anemia, Pericardial effusion, Increased bone mineral de... ORPHA:77261
Complete Atrioventricular Septal Defect
Primum atrial septal defect, Displacement of the papillary muscles, Complete atrioventricular can... ORPHA:1329
Glycogen Storage Disease Ib
Hyperuricemia, Enlarged kidney, Pancreatitis, Hepatocellular carcinoma, Osteoporosis, Pancreatic ... OMIM:232220
Familial Aortic Dissection
Cardiomegaly ORPHA:229
Primary Triglyceride Deposit Cardiomyovasculopathy
Coronary artery stenosis, Pancreatitis, Elevated circulating creatine kinase concentration, Abnor... ORPHA:565612
Fucosidosis
Abnormality of the gallbladder, Cardiomegaly, Hepatomegaly ORPHA:349
Fucosidosis
Cardiomegaly, Vacuolated lymphocytes, Splenomegaly, Hepatomegaly OMIM:230000
Lethal Congenital Contracture Syndrome 10
Cardiomegaly, Overriding aorta, Hypoplasia of the thymus, Ventricular septal defect OMIM:617022
Liver Disease, Severe Congenital
Subvalvular aortic stenosis, Portal inflammation, Elevated circulating alpha-fetoprotein concentr... OMIM:619991
Tyrosinemia, Type I
Hypermethioninemia, Cirrhosis, Anemia, Enlarged kidney, Hepatocellular carcinoma, Elevated circul... OMIM:276700
Multiple Myeloma
Anemia, Lymphadenopathy, Osteopenia, Hypercalcemia, Elevated circulating creatinine concentration... ORPHA:29073
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Increased hepatic glycogen content, Cardiomegaly, Cardiomyopathy OMIM:619259
X-Linked Lymphoproliferative Disease
T lymphocytopenia, Hepatosplenomegaly, Increased T cell count, Bone marrow hypocellularity, Cervi... ORPHA:2442
Osteopetrosis, Autosomal Recessive 7
Anemia, Abnormal trabecular bone morphology, Hepatomegaly, Hypocalcemic seizures, Osteopetrosis, ... OMIM:612301
Chronic Visceral Acid Sphingomyelinase Deficiency
Splenomegaly, Cirrhosis, Abnormal circulating lipid concentration, Hypersplenism, Neoplasm of the... ORPHA:77293
Mucolipidosis Ii Alpha/Beta
Increased serum beta-hexosaminidase, Enlarged kidney, Hypertrophic cardiomyopathy, Osteopenia, He... OMIM:252500
Mucopolysaccharidosis Type 3
Abnormal mitral valve morphology, Abnormal aortic valve morphology, Craniofacial hyperostosis, Ad... ORPHA:581
Glycogen Storage Disease Of Heart, Lethal Congenital
Pericardial effusion, Enlarged kidney, Hypertrophic cardiomyopathy, Biventricular hypertrophy, In... OMIM:261740
Naxos Disease
Right ventricular cardiomyopathy, Abnormal morphology of right ventricular trabeculae, Dilated ca... OMIM:601214
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Partial atrioventricular canal defect, Ventricular septal defect, Bicuspid aortic valve, Secundum... OMIM:620066
Glycogen Storage Disease Due To Acid Maltase Deficiency
Left ventricular hypertrophy, Elevated circulating creatine kinase concentration, Hypertrophic ca... ORPHA:365
Lethal Acantholytic Erosive Disorder
Cardiomegaly, Cardiomyopathy ORPHA:158687
Familial Idiopathic Dilatation Of The Right Atrium
Atrial septal dilatation, Hepatomegaly, Abnormality of the hepatic vasculature, Cardiomegaly, Rig... ORPHA:1677
Developmental And Epileptic Encephalopathy 95
Cardiomegaly, Hepatomegaly OMIM:618143
Truncus Arteriosus
Hypoplasia of the thymus, Truncus arteriosus, Ventricular septal defect, Transposition of the gre... ORPHA:3384
Tropical Endomyocardial Fibrosis
Restrictive cardiomyopathy, Coronary artery stenosis, Right ventricular cardiomyopathy, Endocardi... ORPHA:75565
Congenital Tracheomalacia
Ventricular septal defect, Single ventricle, Atrial septal defect, Abnormal heart morphology, Par... ORPHA:95430
Absence Of The Pulmonary Artery
Patent foramen ovale, Truncus arteriosus, Abnormal cardiac septum morphology, Atrial septal defec... ORPHA:980
Ogden Syndrome
Patent foramen ovale, Microvesicular hepatic steatosis, Ventricular septal defect, Perimembranous... OMIM:300855
Proteasome-Associated Autoinflammatory Syndrome 1
Lymphadenopathy, Decreased HDL cholesterol concentration, Elevated circulating C-reactive protein... OMIM:256040
Beckwith-Wiedemann Syndrome
Enlarged kidney, Polycythemia, Hepatoblastoma, Elevated circulating alpha-fetoprotein concentrati... ORPHA:116
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Patent foramen ovale, Ventricular septal defect, Atrial septal defect, Left ventricular noncompac... OMIM:300967
Aicardi-Goutières Syndrome
Chronic lymphatic leukemia, Hepatosplenomegaly, Hypertrophic cardiomyopathy, Neonatal alloimmune ... ORPHA:51
Bohring-Opitz Syndrome
Cardiomegaly, Cholelithiasis, Abnormal cardiac septum morphology, Annular pancreas ORPHA:97297
Histiocytoid Cardiomyopathy
Cardiomegaly, Ventricular septal defect, Hepatomegaly ORPHA:137675
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Cardiomegaly, Bicuspid aortic valve ORPHA:91387
Paternal Uniparental Disomy Of Chromosome 6
Cardiomegaly, Ventricular septal defect, Hepatomegaly ORPHA:96191
Congenital Total Pulmonary Venous Return Anomaly
Double outlet right ventricle, Mitral atresia, Ventricular septal defect, Cardiac total anomalous... ORPHA:99125
Beckwith-Wiedemann Syndrome
Pancreatic hyperplasia, Enlarged kidney, Hepatoblastoma, Hepatomegaly, Cardiomegaly, Cardiomyopathy OMIM:130650
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Cardiomegaly ORPHA:79280
Williams Syndrome
Abnormal circulating lipid concentration, Ventricular septal defect, Abnormal cardiac septum morp... ORPHA:904
Yunis-Varon Syndrome
Ventricular septal defect, Atrial septal defect, Absent sternal ossification, Decreased skull oss... ORPHA:3472
Generalized Arterial Calcification Of Infancy
Ventricular hypertrophy, Pancreatic calcification, Osteomalacia, Pericardial effusion, Myocardial... ORPHA:51608
Singleton-Merten Syndrome 1
Subvalvular aortic stenosis, Osteolytic defects of the phalanges of the hand, Osteoporosis, Osteo... OMIM:182250
Ehlers-Danlos Syndrome, Classic-Like
Mitral valve prolapse, Quadricuspid aortic valve OMIM:606408
Classical-Like Ehlers-Danlos Syndrome Type 1
Mitral valve prolapse ORPHA:230839
Vesicoureteral Reflux 8
OMIM:615963

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 Tnxb

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 Tnxb.

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

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.

This service may be affected by the Covid-19 pandemic. See how

MGI Allele Allele Type Produced
Tnxbtm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Tnxbtm1b(EUCOMM)Hmgu Reporter-tagged deletion allele (with selection cassette) Mice
Tnxbtm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Tnxbtm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells

The IMPC Newsletter

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

Subscribe to newsletter