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
enlarged heart Tnxbtm1b(EUCOMM)Hmgu HOM Early adult 0.00
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
decreased circulating alkaline phosphatase level Tnxbtm1b(EUCOMM)Hmgu HOM   Early adult 7.24×10-05
enlarged spleen Tnxbtm1b(EUCOMM)Hmgu HOM Early adult 0.00

Download data as:  TSV  XLS

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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 0.0%
aorta 0.0%
bone 0.0%
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
esophagus 0.0%
eye 0.0%
gall bladder 0.0%
heart 0.0%
hippocampus 0.0%
hypothalamus 0.0%
kidney 0.0%
large intestine 0.0%
liver 0.0%
lower urinary tract 0.0%
lung 0.0%
lymph node 0.0%
mammary gland 0.0%
olfactory lobe 0.0%
oral epithelium 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
parathyroid gland 0.0%
peripheral nervous system 0.0%
peyers patch 0.0%
pituitary gland 0.0%
prostate gland 0.0%
skeletal muscle 0.0%
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
striatum 0.0%
testis 0.0%
thymus 0.0%
thyroid gland 0.0%
trachea 0.0%
uterus 0.0%
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 0.0%
ear 0.0%
embryo 0.0%
eye 0.0%
footplate 0.0%
forebrain 0.0%
forelimb 0.0%
handplate 0.0%
head 0.0%
heart 0.0%
hindbrain Ambiguous
hindlimb 0.0%
liver Ambiguous
lung 0.0%
mandibular process 0.0%
maxillary process Ambiguous
midbrain 0.0%
oral cavity 0.0%
skin Ambiguous
tail Ambiguous
tail somite group Ambiguous

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

13 Images

Adult LacZ

LacZ Images Wholemount

23 Images

Echo

M-Mode Images

24 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

12 Images

Embryo LacZ

LacZ images wholemount

8 Images

X-ray

XRay Images Whole Body Lateral Orientation

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, 1
Quadricuspid aortic valve, Mitral valve prolapse 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
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Hepatomegaly, Anemia, Abnormal bone structure, Persistence of hemoglobin F, Splenomegaly ORPHA:46532
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Hepatomegaly, Splenomegaly ORPHA:2274
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Splenomegaly, Hyperlipoproteinemia, Recurrent pancreatitis 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, Hepatomegaly, Splenomegaly OMIM:619175
Neutrophilia, Hereditary
Neutrophilia, Splenomegaly OMIM:162830
Hemoglobin H Disease
HbH hemoglobin, Hepatomegaly, Reduced alpha/beta synthesis ratio, Splenomegaly, Hemolytic anemia OMIM:613978
Tyrosinemia Type 1
Hepatomegaly, Hepatocellular carcinoma, Splenomegaly, Rickets of the lower limbs ORPHA:882
Hyperbilirubinemia, Shunt, Primary
Hepatomegaly, Jaundice, Hyperbilirubinemia, Anemia of inadequate production, Reticulocytosis, Spl... OMIM:237800
Red Cell Phospholipid Defect With Hemolysis
Hyperbilirubinemia, Intermittent jaundice, Splenomegaly, Reticulocytosis OMIM:179700
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Splenomegaly OMIM:619813
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Decreased helper T cell proportion, Hypersplenism, Splenomegaly, Pancytopenia OMIM:183350
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Jaundice, Splenomegaly, Nonspherocytic hemolytic anemia OMIM:206400
Cholestasis, Progressive Familial Intrahepatic, 10
Hepatomegaly, Jaundice, Increased serum bile acid concentration, Portal fibrosis, Increased total... OMIM:619868
Ghosal Hematodiaphyseal Dysplasia
Anemia, Abnormal cortical bone morphology, Splenomegaly, Craniofacial hyperostosis ORPHA:1802
Mantle Cell Lymphoma
Lymphadenopathy, Splenomegaly ORPHA:52416
Hypereosinophilic Syndrome, Idiopathic
Endocardial fibrosis, Hepatomegaly, Restrictive cardiomyopathy, Myeloproliferative disorder, Sple... OMIM:607685
Progressive Familial Intrahepatic Cholestasis
Jaundice, Reduced bone mineral density, Hepatomegaly, Hypocalcemia, Cholestasis, Splenomegaly ORPHA:172
Hemochromatosis, Type 2B
Cirrhosis, Hepatomegaly, Anemia, Cardiomyopathy, Increased circulating iron concentration, Spleno... OMIM:613313
Cholestasis, Progressive Familial Intrahepatic, 12
Hepatomegaly, Jaundice, Increased serum bile acid concentration, Hyperbilirubinemia, Cholestasis,... OMIM:620010
Persistent Polyclonal B-Cell Lymphocytosis
Lymphocytosis, Hepatomegaly, Splenomegaly OMIM:606445
Mu-Heavy Chain Disease
Hepatomegaly, Anemia, Lymphadenopathy, Osteoporosis, Splenomegaly, Abnormal B cell count, Osteolysis ORPHA:100024
Immunodeficiency 16
Coombs-positive hemolytic anemia, Splenomegaly, Pancytopenia OMIM:615593
Beta-Thalassemia, Dominant Inclusion Body Type
Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Persistence of hemoglobin F, E... OMIM:603902
Splenoportal Vascular Anomalies
Cirrhosis, Anomalous splenoportal venous system, Ascites, Hyperammonemia, Splenomegaly, Hepatic f... OMIM:271500
Hypertriglyceridemia, Transient Infantile
Hypertriglyceridemia, Hepatomegaly, Splenomegaly, Hepatic fibrosis, Hepatic steatosis OMIM:614480
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Chronic hemolytic anemia, Anemia, Reduced red cell pyruvate kinase level, Unconjugated hyperbilir... ORPHA:766
Congenital Disorder Of Glycosylation, Type Iio
Cholestatic liver disease, Cirrhosis, Hepatomegaly, Decreased circulating ceruloplasmin concentra... OMIM:616828
Erythroleukemia, Familial, Susceptibility To
Hepatomegaly, Anemia, Acute myeloid leukemia, Thrombocytopenia, Splenomegaly, Erythroid hyperplas... OMIM:133180
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Hepatomegaly, Macrovesicular hepatic steatosis, Elevated circulating creatine kinase concentratio... OMIM:600649
Hemoglobin D Disease
Anemia, HbS hemoglobin, Reduced alpha/beta synthesis ratio, Sickled erythrocytes, Decreased mean ... ORPHA:90039
Immunodeficiency 69
Anemia, Hemophagocytosis, Thrombocytosis, Pancytopenia, Leukocytosis, Hepatosplenomegaly, Splenom... OMIM:618963
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hypertriglyceridemia, Hepatomegaly, Jaundice, Hemophagocytosis, Anemia, Lymphadenopathy, Thromboc... OMIM:603552
Infantile Sialic Acid Storage Disease
Osteopenia, Hepatomegaly, Vacuolated lymphocytes, Ascites, Splenomegaly, Conjugated hyperbilirubi... OMIM:269920
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Thrombocytopenia, Anemia, Splenomegaly, Abnormal hemoglobin ORPHA:231393
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Microcytic anemia, Splenomegaly, Abnormal hemoglobin ORPHA:231242
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Increased bone mineral density, Hepatomegaly, Abnormal cortical bone morphology, Splenomegaly ORPHA:2204
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Cirrhosis, Hepatomegaly, Jaundice, Anemia, Hypochromia, Elevated hepatic iron concentration, Anis... OMIM:616860
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Osteopenia, Hepatomegaly, Anemia, Thrombocytopenia, Splenomegaly, Hypocholesterolemia, Hypersplenism OMIM:610539
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Autoimmune hemolytic anemia, Lymphadenopathy, Splenomegaly, Lymphopenia, Autoimmune thrombocytope... ORPHA:444463
Niemann-Pick Disease, Type B
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hepatomegaly, Sea-blue histiocytos... OMIM:607616
Hemolytic Disease Of Fetus And Newborn, Rh-Induced
Fetal ascites, Hepatomegaly, Splenomegaly OMIM:619462
Hemochromatosis, Type 1
Cirrhosis, Hepatomegaly, Hepatocellular carcinoma, Cardiomyopathy, Ascites, Osteoporosis, Increas... OMIM:235200
Galactosemia Iii
Jaundice, Hypergalactosemia, Splenomegaly, Hepatomegaly OMIM:230350
Congenital Bile Acid Synthesis Defect Type 1
Cirrhosis, Jaundice, Hepatomegaly, Osteoporosis, Biliary tract abnormality, Splenomegaly, Neonata... ORPHA:79301
Bile Acid Synthesis Defect, Congenital, 5
Increased total iron binding capacity, Hepatomegaly, Increased serum bile acid concentration, Jau... OMIM:616278
Thrombocytopenia, Anemia, And Myelofibrosis
Anisopoikilocytosis, Anemia, Myelofibrosis, Thrombocytopenia, Splenomegaly OMIM:617441
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hypertriglyceridemia, Anemia, Lymphadenopathy, Hemophagocytosis, Hepatosplenomegaly, Splenomegaly... OMIM:613101
Alpha-Heavy Chain Disease
Hepatomegaly, Anemia, Lymphadenopathy, Hypocalcemia, Ascites, Splenomegaly ORPHA:100025
Cholestasis-Lymphedema Syndrome
Cirrhosis, Hepatomegaly, Jaundice, Hyperlipidemia, Splenomegaly, Conjugated hyperbilirubinemia, N... OMIM:214900
Mitochondrial Complex I Deficiency, Nuclear Type 36
Cardiomegaly, Perimembranous ventricular septal defect, Hyperprolinemia, Hyperalaninemia OMIM:619170
Autoinflammation With Episodic Fever And Lymphadenopathy
Hepatomegaly, Lymphadenopathy, Recurrent tonsillitis, Splenomegaly, Microcytic anemia OMIM:618852
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Jaundice, Hypocalcemia, Elevated circulating gamma-aminobutyric acid concentration, Cholestasis, ... OMIM:619658
Hemochromatosis, Type 2A
Cirrhosis, Hepatomegaly, Cardiomyopathy, Increased circulating iron concentration, Splenomegaly, ... OMIM:602390
Trimethylaminuria
Anemia, Splenomegaly, Neutropenia OMIM:602079
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Enlarged kidney, Hepatomegaly, Anemia, Thrombocytopenia, Splenomegaly, Leukopenia, Extramedullary... OMIM:615285
Alpha-1-Antitrypsin Deficiency
Reduced circulating alpha-1-antitrypsin concentration, Cirrhosis, Hepatocellular carcinoma, Splen... OMIM:613490
Mitochondrial Complex I Deficiency, Nuclear Type 39
Perimembranous ventricular septal defect, Anemia, Hypertrophic cardiomyopathy, Cardiomegaly, Atri... OMIM:620135
Glycosylphosphatidylinositol Biosynthesis Defect 1
Portal vein thrombosis, Hepatomegaly, Splenomegaly, Portal hypertension OMIM:610293
Immunodeficiency 115 With Autoinflammation
Intestinal lymphangiectasia, Anemia, Elevated circulating C-reactive protein concentration, Eleva... OMIM:620632
Cholestasis-Lymphedema Syndrome
Cirrhosis, Reduced bone mineral density, Hepatomegaly, Jaundice, Abnormality of the lymphatic sys... ORPHA:1414
Beta-Thalassemia
Reduced bone mineral density, Abnormality of iron homeostasis, Hepatomegaly, Cholelithiasis, Anem... ORPHA:848
Combined Oxidative Phosphorylation Deficiency 41
Cardiomegaly, Anemia, Elevated circulating creatine kinase concentration OMIM:618838
Portal Hypertension, Noncirrhotic, 1
Hepatomegaly, Splenomegaly, Portal hypertension OMIM:617068
Sea-Blue Histiocyte Disease
Cirrhosis, Sea-blue histiocytosis, Thrombocytopenia, Splenomegaly OMIM:269600
Congenital Toxoplasmosis
Jaundice, Hepatomegaly, Anemia, Lymphadenopathy, Ascites, Thrombocytopenia, Cardiomegaly ORPHA:858
Immunodeficiency 42
Hepatomegaly, Hypoplasia of the thymus, Splenomegaly OMIM:616622
Mast Cell Sarcoma
Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis, Splenomegaly ORPHA:66661
Lipodystrophy, Congenital Generalized, Type 3
Hypertriglyceridemia, Hepatomegaly, Hypocalcemia, Hepatosplenomegaly, Splenomegaly, Hepatic steat... OMIM:612526
Neuraminidase Deficiency
Hepatomegaly, Epiphyseal stippling, Vacuolated lymphocytes, Bone-marrow foam cells, Cardiomyopath... OMIM:256550
Carnitine Deficiency, Systemic Primary
Hepatomegaly, Decreased circulating carnitine concentration, Microvesicular hepatic steatosis, De... OMIM:212140
Immunodeficiency 84
B lymphocytopenia, Splenomegaly OMIM:619437
Lymphoproliferative Syndrome, X-Linked, 2
Hypertriglyceridemia, Aplastic anemia, Hepatomegaly, Hemophagocytosis, Pancytopenia, Splenomegaly... OMIM:300635
Apolipoprotein C-Ii Deficiency
Hypertriglyceridemia, Hepatomegaly, Pancreatitis, Increased circulating chylomicron concentration... OMIM:207750
Anemia, Congenital Dyserythropoietic, Type Ii
Jaundice, Cholelithiasis, Anemia of inadequate production, Reticulocytosis, Splenomegaly OMIM:224100
Glut1 Deficiency Syndrome 2
Reduced haptoglobin level, Splenomegaly, Hemolytic anemia, Reticulocytosis OMIM:612126
Familial Atrial Myxoma
Jaundice, Bacterial endocarditis, Cardiac myxoma, Cholestasis, Ascites, Pulmonic valve myxoma, Ca... ORPHA:615
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hepatomegaly, Anemia, Hypochromia, Poikilocytosis, Elevated hepatic iron concentration, Siderobla... OMIM:615234
Cryohydrocytosis
Reticulocytosis, Splenomegaly, Stomatocytosis, Hemolytic anemia, Pseudohyperkalemia OMIM:185020
Cholestasis, Progressive Familial Intrahepatic, 1
Osteopenia, Rickets, Cirrhosis, Hepatomegaly, Jaundice, Cholelithiasis, Intrahepatic cholestasis ... OMIM:211600
Harderoporphyria
Hepatomegaly, Reticulocytosis, Prolonged neonatal jaundice, Splenomegaly, Neonatal hyperbilirubin... OMIM:618892
Cardiomyopathy, Familial Hypertrophic, 27
Ventricular septal hypertrophy, Concentric hypertrophic cardiomyopathy, Hypertrophic cardiomyopat... OMIM:618052
Cholesteryl Ester Storage Disease
Hypertriglyceridemia, Cirrhosis, Hepatomegaly, Jaundice, Splenomegaly, Hypercholesterolemia ORPHA:75234
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Cardiomegaly, Hyperprolinemia, Hyperalaninemia, Hepatomegaly OMIM:619064
Immunodeficiency 27A
Anemia, Lymphadenopathy, Leukocytosis, Hepatosplenomegaly, Splenomegaly, Enlarged mesenteric lymp... OMIM:209950
Uruguay Faciocardiomusculoskeletal Syndrome
Left atrial enlargement, Ventricular hypertrophy, Cardiomyopathy, Elevated circulating creatine k... OMIM:300280
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Jaundice, Cholelithiasis, Normochromic anemia, Hyperbilirubinemia, Nonspherocy... OMIM:235700
X-Linked Sideroblastic Anemia
Abnormality of iron homeostasis, Anemia, Splenomegaly ORPHA:75563
Mucopolysaccharidosis, Type Iiib
Hepatomegaly, Dense calvaria, Asymmetric septal hypertrophy, Splenomegaly, Cardiomegaly OMIM:252920
Spherocytosis, Type 4
Jaundice, Hyperbilirubinemia, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia OMIM:612653
Ras-Associated Autoimmune Leukoproliferative Disorder
Hepatomegaly, Pancytopenia, Lymphocytosis, Splenomegaly, Hemolytic anemia, Autoimmune thrombocyto... OMIM:614470
Glycogen Storage Disease Ixa1
Hypertriglyceridemia, Hepatomegaly, Hyperuricemia, Splenomegaly, Hypercholesterolemia OMIM:306000
Pyruvate Kinase Deficiency Of Red Cells
Jaundice, Hepatomegaly, Reduced haptoglobin level, Chronic hemolytic anemia, Cholelithiasis, Redu... OMIM:266200
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Hypochromic microcytic anemia, HbS hemoglobin, Splenic infarction, Persistence of hemoglobin F, R... ORPHA:251380
Leukocyte Adhesion Deficiency, Type Iii
Osteopetrosis, Hepatomegaly, Anemia, Abnormal lymph node morphology, Leukocytosis, Hepatosplenome... OMIM:612840
Dehydrated Hereditary Stomatocytosis 2
Anisopoikilocytosis, Hepatomegaly, Jaundice, Increased mean corpuscular hemoglobin concentration,... OMIM:616689
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Osteopenia, Jaundice, Hepatomegaly, Calvarial hyperostosis, Anemia of inadequate production, Exoc... OMIM:612714
Combined Oxidative Phosphorylation Deficiency 10
Hyperalaninemia, Ascites, Hypertrophic cardiomyopathy, Hyperammonemia, Pericardial effusion, Card... OMIM:614702
Cirrhotic Cardiomyopathy
Left atrial enlargement, Abnormal circulating B-type natriuretic peptide concentration, Cirrhosis... ORPHA:57777
Fish-Eye Disease
Lymphadenopathy, Decreased HDL cholesterol concentration, Hepatomegaly, Splenomegaly ORPHA:79292
Combined Oxidative Phosphorylation Deficiency 8
Cardiomegaly, Hypertrophic cardiomyopathy OMIM:614096
Indolent Systemic Mastocytosis
Hepatomegaly, Lymphadenopathy, Increased proportion of CD25+ mast cells, Osteoporosis, Mastocytos... ORPHA:98848
Erythrocytosis, Familial, 8
Reduced erythrocyte bisphosphoglycerate mutase activity, Polycythemia, Increased circulating hemo... OMIM:222800
Immunodeficiency 109 With Lymphoproliferation
Hypertriglyceridemia, Pancytopenia, Splenomegaly, Generalized lymphadenopathy, Absent circulating... OMIM:620282
Osteopetrosis, Autosomal Recessive 8
Osteopetrosis, Hepatomegaly, Anemia, Thrombocytopenia, Splenomegaly OMIM:615085
Glycogen Storage Disease Ixb
Hepatomegaly, Splenomegaly, Increased hepatic glycogen content, Hyperuricemia OMIM:261750
Ornithine Transcarbamylase Deficiency
Hyperammonemia, Splenomegaly ORPHA:664
Spherocytosis, Type 1
Jaundice, Cholelithiasis, Hyperbilirubinemia, Spherocytosis, Reticulocytosis, Splenomegaly, Hemol... OMIM:182900
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Lymphadenopathy, Decreased proportion of class-switched memory B cells, Increased proportion of t... OMIM:615513
Immunodeficiency 76
Lymphadenopathy, B lymphocytopenia, T lymphocytopenia, Splenomegaly, Lymphopenia OMIM:619164
Attrv122I Amyloidosis
Anemia, Increased circulating NT-proBNP concentration, Cardiac amyloidosis, Restrictive cardiomyo... ORPHA:85451
Congenital Myopathy 8
Cardiomegaly OMIM:618654
Anemia, Congenital Dyserythropoietic, Type Ib
Jaundice, Hepatomegaly, Anemia, Anemia of inadequate production, Reticulocytosis, Poikilocytosis,... OMIM:615631
B-Cell Expansion With Nfkb And T-Cell Anergy
Increased B cell count, Splenomegaly OMIM:616452
Schnitzler Syndrome
Hepatomegaly, Anemia, Lymphadenopathy, Increased bone mineral density, Leukocytosis, Splenomegaly ORPHA:37748
Spherocytosis, Type 2
Jaundice, Hyperbilirubinemia, Spherocytosis, Reticulocytosis, Splenomegaly, Acanthocytosis, Hemol... OMIM:616649
Immunodeficiency 52
Lymphadenopathy, Abnormal natural killer cell count, T lymphocytopenia, Splenomegaly, Abnormal B ... OMIM:617514
Osteopetrosis, Autosomal Recessive 4
Osteopetrosis, Hepatomegaly, Anemia, Increased bone mineral density, Reticulocytosis, Thrombocyto... OMIM:611490
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatomegaly, Decreased circulating carnitine concentration, Periportal fibrosis, Elevated circul... OMIM:201475
Osteopetrosis, Autosomal Dominant 3
Osteopenia, Hepatomegaly, Anemia, Splenomegaly OMIM:618107
Bile Acid Synthesis Defect, Congenital, 1
Rickets, Cirrhosis, Hepatomegaly, Intrahepatic cholestasis, Jaundice, Giant cell hepatitis, Splen... OMIM:607765
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly OMIM:613576
Myelofibrosis
Hepatomegaly, Hemophagocytosis, Myeloproliferative disorder, Myelofibrosis, Splenomegaly, Extrame... OMIM:254450
Attrv30M Amyloidosis
Cardiomegaly, Cardiomyopathy ORPHA:85447
Tafro Syndrome
Hepatomegaly, Anemia, Lymphadenopathy, Elevated circulating C-reactive protein concentration, Mye... ORPHA:457077
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly OMIM:300886
Mulibrey Nanism
Hepatomegaly, Cardiomegaly, Ascites, Pericardial constriction, Myocardial fibrosis, Thickened cor... OMIM:253250
Lymphoproliferative Syndrome 1
Autoimmune hemolytic anemia, Hepatomegaly, Anemia, Hemophagocytosis, Elevated circulating C-react... OMIM:613011
Immunodeficiency 48
Hepatomegaly, Impaired lymphocyte transformation with phytohemagglutinin, Splenomegaly, Abnormal ... OMIM:269840
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Ventricular hypertrophy, Hyperalaninemia, Hypertrophic cardiomyopathy, Hyperammonemia, Cardiomegaly OMIM:619051
Alpha-Thalassemia-Myelodysplastic Syndrome
Acute leukemia, HbH hemoglobin, Thrombocytopenia, Splenomegaly, Microcytic anemia, Neutropenia ORPHA:231401
Cholestasis, Progressive Familial Intrahepatic, 3
Cirrhosis, Intrahepatic cholestasis, Hepatomegaly, Increased serum bile acid concentration, Jaund... OMIM:602347
Familial Cold Autoinflammatory Syndrome 2
Lymphadenopathy, Leukocytosis, Splenomegaly, Elevated circulating C-reactive protein concentration OMIM:611762
Ciliary Dyskinesia, Primary, 53
Situs inversus totalis, Perimembranous ventricular septal defect, Patent foramen ovale, Polysplen... OMIM:620642
Follicular Lymphoma
Lymphadenopathy, Mediastinal lymphadenopathy, Splenomegaly, Abnormal peritoneum morphology ORPHA:545
Thrombocythemia 1
Thrombocytosis, Splenomegaly OMIM:187950
Spherocytosis, Type 5
Jaundice, Abnormal platelet count, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia... OMIM:612690
Hemoglobin E Disease
Hypochromic microcytic anemia, Increased red blood cell count, Drug-sensitive hemolytic anemia, A... ORPHA:2133
Lymphoproliferative Syndrome, X-Linked, 1
Aplastic anemia, Hepatomegaly, Hemophagocytosis, Elevated circulating C-reactive protein concentr... OMIM:308240
Hurler-Scheie Syndrome
Hepatomegaly, Abnormal heart valve morphology, Abnormality of the tonsils, Cardiomyopathy, Spleno... ORPHA:93476
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Elevated circulating creatine kinase concentration, Hyperammonemia, Cardiomegaly, H... ORPHA:42
Hepatoportal Sclerosis
Abnormal liver parenchyma morphology, Jaundice, Anemia, Periportal fibrosis, Hyperbilirubinemia, ... ORPHA:64743
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Hypertriglyceridemia, Anemia, Acute myeloid leukemia, Elevated circulating C-reactive protein con... ORPHA:158057
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal ventriculoarterial connection, Hepatomegaly, Ventricular septal defect, Anomalous pulmon... ORPHA:860
Pseudo-Torch Syndrome 3
Anemia, Leukocytosis, Lymphadenitis, Cardiomegaly, Increased circulating ferritin concentration, ... OMIM:618886
Cholestasis, Progressive Familial Intrahepatic, 9
Intrahepatic cholestasis, Hepatomegaly, Jaundice, Fibro-obliterative bile-duct lesion, Portal hyp... OMIM:619849
Tangier Disease
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hepatomegaly, Decreased circulatin... OMIM:205400
Symptomatic Form Of Hfe-Related Hemochromatosis
Cirrhosis, Abnormality of iron homeostasis, Hepatomegaly, Cardiomegaly, Hepatocellular carcinoma,... ORPHA:465508
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Hypertriglyceridemia, Anemia, Hemophagocytosis, Pancytopenia, Splenomegaly, Increased circulating... OMIM:618398
Felty Syndrome
Splenomegaly, Neutropenia OMIM:134750
Classic Hodgkin Lymphoma
Hepatomegaly, Lymphadenopathy, Bone marrow hypocellularity, Splenomegaly, Osteolysis ORPHA:391
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Normochromic anemia, Pancytopenia, Anemi... ORPHA:75564
Immunodeficiency 64 With Lymphoproliferation
Autoimmune hemolytic anemia, Cervical lymphadenopathy, Mediastinal lymphadenopathy, Lymphadenopat... OMIM:618534
Gaucher Disease Type 1
Decreased HDL cholesterol concentration, Ascites, Leukopenia, Splenomegaly, Osteolysis, Pancytope... ORPHA:77259
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Jaundice, Hepatomegaly, Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Incr... OMIM:194380
Sickle Cell Disease
Jaundice, Hepatomegaly, Cholelithiasis, Leukocytosis, Splenic infarction, Target cells, Splenomeg... OMIM:603903
Beta-Thalassemia Intermedia
Osteopenia, Cirrhosis, Abnormality of iron homeostasis, Reduced bone mineral density, Hepatomegal... ORPHA:231222
Griscelli Syndrome Type 2
Jaundice, Hepatomegaly, Lymphadenopathy, Hemophagocytosis, Pancytopenia, Hyperlipidemia, Splenome... ORPHA:79477
Carnitine Palmitoyltransferase I Deficiency
Hepatomegaly, Transient hyperlipidemia, Elevated circulating creatine kinase concentration, Hyper... OMIM:255120
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hepatomegaly, Jaundice, Hemophagoc... OMIM:267700
Leishmaniasis
Hepatomegaly, Anemia, Lymphadenopathy, Pancytopenia, Abnormal macrophage morphology, Leukopenia, ... ORPHA:507
Dehydrated Hereditary Stomatocytosis
Macrocytic anemia, Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Increased... ORPHA:3202
Immunodeficiency 32B
Hepatomegaly, Anemia, Monocytopenia, Eosinophilia, Neutrophilia, Thrombocytopenia, Splenomegaly, ... OMIM:226990
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Jaundice, Fava bean-induced hemolytic anemia, Leukocytosis, Reticulocytosis, Unconjugated hyperbi... OMIM:300908
Cholestasis, Progressive Familial Intrahepatic, 2
Cirrhosis, Intrahepatic cholestasis, Hepatomegaly, Hepatocellular carcinoma, Intermittent jaundic... OMIM:601847
Nephronophthisis 19
Hepatomegaly, Cholestasis, Bile duct proliferation, Splenomegaly, Hepatic fibrosis, Malformation ... OMIM:616217
Anemia, Congenital Dyserythropoietic, Type Iv
Hepatomegaly, Reduced haptoglobin level, Anemia, Reduced hematocrit, Hyperbilirubinemia, Anemia o... OMIM:613673
Systemic-Onset Juvenile Idiopathic Arthritis
Hepatomegaly, Lymphadenopathy, Elevated circulating C-reactive protein concentration, Pericarditi... ORPHA:85414
Overhydrated Hereditary Stomatocytosis
Hepatomegaly, Jaundice, Increased mean corpuscular volume, Hyperbilirubinemia, Reticulocytosis, P... OMIM:185000
Cholesteryl Ester Storage Disease
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hepatomegaly, Cirrhosis, Anemia, P... OMIM:278000
Neurooculocardiogenitourinary Syndrome
Cardiomegaly, Atrial septal defect, Patent foramen ovale, Ventricular septal defect OMIM:618652
Macrophage Activation Syndrome
Hypertriglyceridemia, Hepatomegaly, Anemia, Hemophagocytosis, Elevated circulating C-reactive pro... ORPHA:158061
Thrombocytopenia With Beta-Thalassemia, X-Linked
Reticulocytosis, Reduced platelet alpha granules, Increased mean platelet volume, Thrombocytopeni... OMIM:314050
Autoimmune Lymphoproliferative Syndrome
Autoimmune hemolytic anemia, Hepatomegaly, Iron deficiency anemia, Neutropenia in presence of ant... OMIM:601859
Congenital Tricuspid Valve Dysplasia
Tricuspid valve prolapse, Hepatomegaly, Abnormal tricuspid valve annulus morphology, Patent foram... ORPHA:555874
Cantu Syndrome
Bicuspid aortic valve, Osteoporosis, Pericardial effusion, Congenital hypertrophy of left ventric... OMIM:239850
Congenital Pulmonary Lymphangiectasia
Hepatomegaly, Chylopericardium, Ascites, Pulmonic stenosis, Splenomegaly ORPHA:2414
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular septal hypertrophy, Muscular ventricular septal defect, Hepatomegaly, Ventricular hyp... OMIM:115197
Gaucher Disease, Type Iiic
Hepatomegaly, Pancytopenia, Mitral valve calcification, Mitral stenosis, Splenomegaly, Aortic val... OMIM:231005
Portal Hypertension, Noncirrhotic, 2
Hepatomegaly, Hepatocellular carcinoma, Ascites, Portal hypertension, Thrombocytopenia, Splenomeg... OMIM:619463
Immunodeficiency 98 With Autoinflammation, X-Linked
Autoimmune hemolytic anemia, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, B lymphocytopenia, ... OMIM:301078
Combined Oxidative Phosphorylation Deficiency 33
Hepatomegaly, Cardiomyopathy, Elevated circulating creatine kinase concentration, Left ventricula... OMIM:617713
Timothy Syndrome
Hypocalcemia, Patent foramen ovale, Tetralogy of Fallot, Cardiomegaly, Ventricular septal defect OMIM:601005
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Hepatomegaly, Lymphadenopathy, Decreased proportion of class-switched memory B cells, Splenomegal... OMIM:619375
Bile Acid Synthesis Defect, Congenital, 2
Hepatomegaly, Jaundice, Intrahepatic cholestasis, Hyperbilirubinemia, Splenomegaly OMIM:235555
Immunodeficiency 97 With Autoinflammation
Hypertriglyceridemia, Autoimmune hemolytic anemia, Mediastinal lymphadenopathy, Hemophagocytosis,... OMIM:619802
Long-Olsen-Distelmaier Syndrome
Hyperammonemia, Secundum atrial septal defect, Cardiomegaly, Dilated cardiomyopathy, Ventricular ... OMIM:620609
Fixed Subaortic Stenosis
Atrioventricular canal defect, Cardiomegaly, Bacterial endocarditis, Pulmonic stenosis, Abnormal ... ORPHA:3092
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Intraalveolar phospholipid accumulation, Leukocytosis, Splenomegaly OMIM:618042
Gamma-Heavy Chain Disease
Autoimmune hemolytic anemia, Hepatomegaly, Anemia, Lymphadenopathy, Abnormal lymphocyte morpholog... ORPHA:100026
Hb Bart'S Hydrops Fetalis
Hepatomegaly, Anemia, Pericarditis, Splenomegaly, Abnormal hemoglobin ORPHA:163596
Arterial Calcification, Generalized, Of Infancy, 2
Cardiomegaly, Hypophosphatemic rickets, Right atrial enlargement OMIM:614473
Overhydrated Hereditary Stomatocytosis
Decreased mean corpuscular hemoglobin concentration, Intermittent jaundice, Reticulocytosis, Abno... ORPHA:3203
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Periostitis, Osteopenia, Hepatomegaly, Elevated circulating C-reactive protein concentration, Neu... OMIM:612852
Sea-Blue Histiocytosis
Hepatomegaly, Mediastinal lymphadenopathy, Sea-blue histiocytosis, Thrombocytopenia, Splenomegaly ORPHA:158029
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, B lymphocytope... ORPHA:231154
Chronic Myeloid Leukemia
Myeloproliferative disorder, Leukocytosis, Abnormal granulocyte morphology, Thrombocytopenia, Spl... ORPHA:521
Hyperlipoproteinemia, Type Id
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hepatomegaly, Pancreatitis, Increa... OMIM:615947
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hypertriglyceridemia, Hepatomegaly, Jaundice, Hemophagocytosis, Anemia, Pancytopenia, Lymphadenop... OMIM:603553
Acute Panmyelosis With Myelofibrosis
Acute myeloid leukemia, Pancytopenia, Lymphocytosis, Myelofibrosis, Bone marrow hypocellularity, ... ORPHA:86843
Omenn Syndrome
Hepatomegaly, Anemia, Lymphadenopathy, B lymphocytopenia, Hypoproteinemia, Hypoplasia of the thym... OMIM:603554
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Osteopenia, Decreased skull ossification, Hypertrophic cardiomyopathy, Ascites, Cardiomegaly, Ven... OMIM:616897
Alpha-Thalassemia
Anisopoikilocytosis, Hemoglobin Barts, Jaundice, Anemia, Cholelithiasis, Reticulocytosis, Pericar... ORPHA:846
Polycythemia Vera
Increased red blood cell mass, Leukocytosis, Increased circulating hemoglobin concentration, Thro... OMIM:263300
Drug-Induced Autoimmune Hemolytic Anemia
Increased total bilirubin, Splenomegaly, Autoimmune hemolytic anemia ORPHA:90037
Idiopathic Pulmonary Hemosiderosis
Cardiomegaly, Hepatomegaly, Hepatosplenomegaly, Iron deficiency anemia ORPHA:99931
Glycogen Storage Disease Ixc
Hypertriglyceridemia, Cirrhosis, Hepatomegaly, Increased hepatic glycogen content, Bile duct prol... OMIM:613027
Mcleod Syndrome
Hepatomegaly, Reduced haptoglobin level, Cardiomyopathy, Elevated circulating creatine kinase con... OMIM:300842
Anemia, Congenital Dyserythropoietic, Type Ia
Hepatomegaly, Hyperbilirubinemia, Anemia of inadequate production, Macrocytic dyserythropoietic a... OMIM:224120
Refsum Disease, Classic
Elevated circulating phytanic acid concentration, Cardiomyopathy, Cardiomegaly OMIM:266500
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Jaundice, Cholelithiasis, Spontaneous hemolytic crises, Nonspherocytic hemolytic anemia, Impaired... OMIM:613470
Glycogen Storage Disease Ii
Hepatomegaly, Increased circulating NT-proBNP concentration, Elevated circulating creatine kinase... OMIM:232300
Elliptocytosis 1
Elliptocytosis, Jaundice, Splenomegaly, Hemolytic anemia OMIM:611804
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome
Splenomegaly, Pancytopenia OMIM:614979
Sclerosing Cholangitis, Neonatal
Cirrhosis, Hepatomegaly, Portal fibrosis, Jaundice, Sclerosing cholangitis, Acholic stools, Chole... OMIM:617394
Hyperlipoproteinemia, Type I
Lactescent serum, Jaundice, Increased circulating chylomicron concentration, Hyperlipidemia, Acut... OMIM:238600
Heterotaxy, Visceral, 1, X-Linked
Enlarged kidney, Biliary atresia, Pulmonic stenosis, Cardiomegaly, Right atrial isomerism, Transp... OMIM:306955
Adult-Onset Still Disease
Abnormal circulating lipid concentration, Myocarditis, Hepatomegaly, Anemia, Generalized lymphade... ORPHA:829
Alpha-N-Acetylgalactosaminidase Deficiency
Cardiomegaly ORPHA:3137
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Lipid accumulation in hepatocytes, Enlarged kidney, Hepatomegaly, Macrovesicular hepatic steatosi... OMIM:608836
Cold Agglutinin Disease
Lymphadenopathy, Hepatomegaly, Splenomegaly, Hemolytic anemia ORPHA:56425
Coronary Arterial Fistula
Atrial septal defect, Cardiomegaly, Bacterial endocarditis, Patent foramen ovale, Aortic valve st... ORPHA:2041
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hepatic steatosis, Hepatomegaly, Hyperlipidemia, Elevated circulating creatine kinase concentrati... ORPHA:228308
Bile Acid Synthesis Defect, Congenital, 3
Cirrhosis, Hepatomegaly, Jaundice, Intrahepatic cholestasis, Acholic stools, Hyperbilirubinemia, ... OMIM:613812
Aorta Coarctation
Perimembranous ventricular septal defect, Cardiomegaly, Abnormal left ventricular outflow tract m... ORPHA:1457
Hsd10 Disease, Infantile Type
Cardiomegaly, Hyperammonemia, Hypertrophic cardiomyopathy ORPHA:391428
Glycogen Storage Disease Xii
Normocytic anemia, Hepatomegaly, Reduced haptoglobin level, Jaundice, Normochromic anemia, Decrea... OMIM:611881
Fetal Cytomegalovirus Syndrome
Jaundice, Hepatomegaly, Anemia, Thrombocytopenia, Splenomegaly, Conjugated hyperbilirubinemia, He... ORPHA:294
Isolated Right Ventricular Hypoplasia
Muscular ventricular septal defect, Patent foramen ovale, Right atrial enlargement, Cardiomegaly,... ORPHA:439
Short Fifth Metacarpals-Insulin Resistance Syndrome
Spherocytosis, Splenomegaly ORPHA:66518
Adams-Oliver Syndrome 5
Patent foramen ovale, Right atrial enlargement, Pulmonic stenosis, Portal vein thrombosis, Spleno... OMIM:616028
Danon Disease
Myocardial necrosis, Elevated circulating creatine kinase concentration, Hypertrophic cardiomyopa... OMIM:300257
Sitosterolemia 1
Elevated circulating sitosterol concentration, Reduced haptoglobin level, Chronic hemolytic anemi... OMIM:210250
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Hepatomegaly, Anemia, Splenomegaly OMIM:620296
Congenital Disorder Of Glycosylation, Type It
Hepatomegaly, Intrahepatic cholestasis, Increased hepatic glycogen content, Elevated circulating ... OMIM:614921
Infantile Liver Failure Syndrome 3
Hepatomegaly, Jaundice, Cholestasis, Hyperammonemia, Hepatic bridging fibrosis, Splenomegaly, Hep... OMIM:618641
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Cardiomegaly, Delayed epiphyseal ossification OMIM:613320
Craniofaciofrontodigital Syndrome
Osteopenia, Cardiomegaly, Abnormal heart valve morphology, Osteoporosis, Aortic valve stenosis, P... ORPHA:363705
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hepatomegaly, Jaundice, Periportal fibrosis, Hyperbilirubinemia, Ascites, Portal hypertension, He... OMIM:251880
Renal-Hepatic-Pancreatic Dysplasia 1
Situs inversus totalis, Enlarged kidney, Hepatomegaly, Hyperechogenic pancreas, Cirrhosis, Choles... OMIM:208540
Gray Platelet Syndrome
Thrombocytopenia, Myelofibrosis, Splenomegaly, Abnormal number of alpha granules OMIM:139090
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Hepatomegaly, Anemia, Lymphadenopathy, Hypoproteinemia, Cardiomyopathy, Elevated circulating crea... OMIM:615895
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Aortic valve stenosis, Abnormal atrioventricular valve morphology, Cardiomegaly, Mitral valve pro... ORPHA:324410
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Hepatomegaly, Aplasia of the thymus, B lymphocytopenia, Eosinophilia, Lymph node hypoplasia, Sple... OMIM:602450
Histiocytosis-Lymphadenopathy Plus Syndrome
Hepatomegaly, Lymphadenopathy, Retroperitoneal fibrosis, Pancreatic hypoplasia, Pulmonic stenosis... OMIM:602782
Abetalipoproteinemia
Osteopenia, Decreased HDL cholesterol concentration, Hepatomegaly, Cirrhosis, Anemia, Hypotriglyc... ORPHA:14
Hereditary Spherocytosis
Hepatomegaly, Jaundice, Anemia, Cholelithiasis, Spontaneous hemolytic crises, Increased mean corp... ORPHA:822
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hepatomegaly, Chronic hemolytic anemia, Microvesicular hepatic steatosis, Ventricular hypertrophy... OMIM:618278
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Hepatomegaly, Elevated circulating creatine kinase concentration, Hypertrophic cardiomyopathy, Le... ORPHA:308552
Budd-Chiari Syndrome
Cirrhosis, Jaundice, Hepatomegaly, Ascites, Portal hypertension, Splenomegaly, Peritonitis, Chole... ORPHA:131
Parenteral Nutrition-Associated Cholestasis
Cirrhosis, Hepatomegaly, Jaundice, Cholelithiasis, Hyperlipidemia, Portal hypertension, Biliary h... ORPHA:567983
Hereditary Elliptocytosis
Jaundice, Cholelithiasis, Hyperbilirubinemia, Reticulocytosis, Poikilocytosis, Prolonged neonatal... ORPHA:288
Neurodegeneration And Seizures Due To Copper Transport Defect
Cardiomegaly, Abnormal circulating ceruloplasmin concentration, Abnormal circulating copper conce... OMIM:620306
Caroli Disease
Cirrhosis, Hepatomegaly, Jaundice, Intrahepatic cholestasis, Cholangitis, Cholelithiasis, Liver a... ORPHA:53035
Gaucher Disease, Perinatal Lethal
Hepatomegaly, Anemia, Ascites, Hepatosplenomegaly, Splenomegaly, Thrombocytopenia, Cardiomegaly OMIM:608013
Arterial Calcification, Generalized, Of Infancy, 1
Cardiomegaly, Dilated cardiomyopathy, Hypophosphatemic rickets OMIM:208000
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Cardiomegaly, Elevated circulating creatine kinase concentration, Right ventricular hypertrophy ORPHA:268
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Osteopenia, Hepatomegaly, Splenic cyst, Increased circulating thyroglobulin concentration, Pancre... OMIM:610199
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Osteopenia, Bicuspid aortic valve, Patent foramen ovale, Osteoporosis, Generalized osteoporosis, ... OMIM:245600
Sandhoff Disease
Cardiomegaly, Hepatomegaly, Hepatosplenomegaly OMIM:268800
Beck-Fahrner Syndrome
Cardiomegaly, Ventricular septal defect OMIM:618798
Proteasome-Associated Autoinflammatory Syndrome 4
Autoimmune hemolytic anemia, Lymphadenopathy, Hepatomegaly, Splenomegaly OMIM:619183
Mogs-Cdg
Hepatomegaly, Hepatosplenomegaly, Thrombocytopenia, Left ventricular hypertrophy, Cardiomegaly, A... ORPHA:79330
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Osteopenia, Abnormal bone ossification, Cardiomegaly, Abnormal thymus morphology ORPHA:2463
Cantú Syndrome
Cardiomegaly, Abnormal heart valve morphology, Hypertrophic cardiomyopathy, Osteoporosis ORPHA:1517
Fucosidosis
Cardiomegaly, Hepatomegaly, Abnormality of the gallbladder ORPHA:349
Gaucher Disease Type 3
Hepatomegaly, Anemia, Pancytopenia, Increased bone mineral density, Abnormal heart valve morpholo... ORPHA:77261
Primary Biliary Cholangitis
Abnormal circulating lipid concentration, Cirrhosis, Hepatomegaly, Jaundice, Hepatocellular carci... ORPHA:186
Familial Aortic Dissection
Cardiomegaly ORPHA:229
Primary Triglyceride Deposit Cardiomyovasculopathy
Hepatomegaly, Pancreatitis, Vacuolated lymphocytes, Cardiomyopathy, Hyperlipidemia, Elevated circ... ORPHA:565612
Autoinflammatory Disease, Systemic, With Vasculitis
Hepatomegaly, Jaundice, Anemia, Elevated circulating C-reactive protein concentration, Increased ... OMIM:620376
Complete Atrioventricular Septal Defect
Displacement of the papillary muscles, Hepatomegaly, Primum atrial septal defect, Right ventricul... ORPHA:1329
Neutral Lipid Storage Disease With Myopathy
Hypertriglyceridemia, Hepatomegaly, Chronic pancreatitis, Cardiomyopathy, Elevated circulating cr... OMIM:610717
Glycogen Storage Disease Ib
Enlarged kidney, Hepatomegaly, Pancreatitis, Hyperuricemia, Hepatocellular carcinoma, Hyperlipide... OMIM:232220
Lethal Congenital Contracture Syndrome 10
Cardiomegaly, Overriding aorta, Ventricular septal defect, Hypoplasia of the thymus OMIM:617022
Double Outlet Left Ventricle
Pulmonary valve atresia, Double outlet left ventricle, Tricuspid atresia, Bicuspid pulmonary valv... ORPHA:3427
Liver Disease, Severe Congenital
Left atrial enlargement, Lymphocytosis, Hypoproteinemia, Ascites, Biliary hyperplasia, Hyperammon... OMIM:619991
Multiple Myeloma
Osteopenia, Anemia, Lymphadenopathy, Hypercalcemia, Splenomegaly, Hyperproteinemia, Elevated circ... ORPHA:29073
Mucolipidosis Ii Alpha/Beta
Osteopenia, Enlarged kidney, Hepatomegaly, Increased serum beta-hexosaminidase, Hypertrophic card... OMIM:252500
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Cardiomegaly, Cardiomyopathy, Increased hepatic glycogen content OMIM:619259
Mucopolysaccharidosis Type 3
Reduced bone mineral density, Abnormal aortic valve morphology, Hepatomegaly, Craniofacial hypero... ORPHA:581
Amyloidosis, Hereditary, Transthyretin-Related
Cardiomegaly, Cardiomyopathy OMIM:105210
Osteopetrosis, Autosomal Recessive 7
Osteopetrosis, Hypocalcemic seizures, Hepatomegaly, Anemia, Abnormal trabecular bone morphology, ... OMIM:612301
Tyrosinemia, Type I
Enlarged kidney, Hypophosphatemic rickets, Hepatomegaly, Cirrhosis, Anemia, Hypertyrosinemia, Hep... OMIM:276700
Naxos Disease
Right ventricular cardiomyopathy, Abnormal morphology of right ventricular trabeculae, Abnormal h... OMIM:601214
Glycogen Storage Disease Of Heart, Lethal Congenital
Enlarged kidney, Cardiomyopathy, Ascites, Hypertrophic cardiomyopathy, Pericardial effusion, Card... OMIM:261740
Chronic Visceral Acid Sphingomyelinase Deficiency
Osteopenia, Abnormal circulating lipid concentration, Decreased HDL cholesterol concentration, Hy... ORPHA:77293
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Cardiomegaly, Partial atrioventricular canal defect, Secundum atrial septal defect, Bicuspid aort... OMIM:620066
Fucosidosis
Cardiomegaly, Vacuolated lymphocytes, Hepatomegaly, Splenomegaly OMIM:230000
Lethal Acantholytic Erosive Disorder
Cardiomegaly, Cardiomyopathy ORPHA:158687
Glycogen Storage Disease Due To Acid Maltase Deficiency
Hepatomegaly, Elevated circulating creatine kinase concentration, Osteoporosis, Hypertrophic card... ORPHA:365
Interatrial Communication
Atrial septal defect, Sinus venosus atrial septal defect, Primum atrial septal defect, Secundum a... ORPHA:1478
Developmental And Epileptic Encephalopathy 95
Cardiomegaly, Hepatomegaly OMIM:618143
Familial Idiopathic Dilatation Of The Right Atrium
Hepatomegaly, Atrial septal dilatation, Right atrial enlargement, Abnormality of the hepatic vasc... ORPHA:1677
Truncus Arteriosus
Transposition of the great arteries, Abnormal heart valve morphology, Truncus arteriosus, Hypopla... ORPHA:3384
Tropical Endomyocardial Fibrosis
Left atrial enlargement, Endocardial fibrosis, Hepatomegaly, Right ventricular cardiomyopathy, Re... ORPHA:75565
Congenital Tracheomalacia
Abnormal heart morphology, Tetralogy of Fallot, Partial anomalous pulmonary venous return, Cardio... ORPHA:95430
Ogden Syndrome
Left atrial enlargement, Perimembranous ventricular septal defect, Enlarged kidney, Jaundice, Car... OMIM:300855
Absence Of The Pulmonary Artery
Patent foramen ovale, Truncus arteriosus, Abnormal heart morphology, Tetralogy of Fallot, Cardiom... ORPHA:980
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Pancreatitis, Splenic cyst, Patent foramen ovale, Hepatic sinusoidal dilatation, Cardiomegaly OMIM:620371
Proteasome-Associated Autoinflammatory Syndrome 1
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hepatomegaly, Lymphadenopathy, Ele... OMIM:256040
Beckwith-Wiedemann Syndrome
Enlarged kidney, Hepatomegaly, Abnormal pancreas morphology, Visceromegaly, Hypertrophic cardiomy... ORPHA:116
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Patent foramen ovale, Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, R... OMIM:300967
Bohring-Opitz Syndrome
Cardiomegaly, Annular pancreas, Cholelithiasis, Abnormal cardiac septum morphology ORPHA:97297
Aicardi-Goutières Syndrome
Chronic lymphatic leukemia, Neonatal alloimmune thrombocytopenia, Hypertrophic cardiomyopathy, Pr... ORPHA:51
Histiocytoid Cardiomyopathy
Cardiomegaly, Hepatomegaly, Ventricular septal defect ORPHA:137675
Beckwith-Wiedemann Syndrome
Enlarged kidney, Hepatomegaly, Cardiomyopathy, Hepatoblastoma, Pancreatic hyperplasia, Cardiomegaly OMIM:130650
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Bicuspid aortic valve, Cardiomegaly ORPHA:91387
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Cardiomegaly ORPHA:79280
Paternal Uniparental Disomy Of Chromosome 6
Cardiomegaly, Hepatomegaly, Ventricular septal defect ORPHA:96191
Congenital Total Pulmonary Venous Return Anomaly
Infracardiac total anomalous pulmonary venous connection, Atrial situs ambiguous, Transposition o... ORPHA:99125
Williams Syndrome
Osteopenia, Abnormal circulating lipid concentration, Abnormal endocardium morphology, Cardiomega... ORPHA:904
Yunis-Varon Syndrome
Absent sternal ossification, Cardiomyopathy, Decreased skull ossification, Tetralogy of Fallot, C... ORPHA:3472
Generalized Arterial Calcification Of Infancy
Hypophosphatemic rickets, Cardiomegaly, Abnormal calcification of the carpal bones, Ventricular h... ORPHA:51608
Singleton-Merten Syndrome 1
Osteopenia, Osteolytic defects of the phalanges of the hand, Osteoporosis, Mitral valve calcifica... OMIM:182250
Ehlers-Danlos Syndrome, Classic-Like, 1
Quadricuspid aortic valve, Mitral valve prolapse 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.

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

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