Gene Summary

Name:
transmembrane and ubiquitin-like domain containing 2
Synonyms:
2010008E23Rik

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
increased eosinophil cell number Tmub2tm1b(KOMP)Wtsi HOM   Early adult 2.29×10-05
abnormal heart morphology Tmub2tm1b(KOMP)Wtsi HOM Early adult 0.00
hydrometra Tmub2tm1b(KOMP)Wtsi HOM Early adult 0.00
increased bone mineral content Tmub2tm1b(KOMP)Wtsi HOM Early adult 1.87×10-05
enlarged heart Tmub2tm1b(KOMP)Wtsi HOM Early adult 0.00
small superior vagus ganglion Tmub2tm1b(KOMP)Wtsi HOM Early adult 0.00
decreased lymphocyte cell number Tmub2tm1b(KOMP)Wtsi HOM Early adult 2.68×10-05
increased startle reflex Tmub2tm1b(KOMP)Wtsi HOM   Early adult 5.64×10-05

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  Section images heterozygote 100% (2 of 2)
Aorta  Section images heterozygote 50% (1 of 2)
Brown adipose tissue  Section images heterozygote 50% (1 of 2)
Cecum  Section images heterozygote 50% (1 of 2)
Cerebellum  Section images heterozygote 100% (2 of 2)
Colon  Section images heterozygote 100% (2 of 2)
Duodenum  Section images heterozygote 50% (1 of 2)
Epididymis  Section images heterozygote 50% (1 of 2)
Esophagus  Section images heterozygote 100% (2 of 2)
Eye  Section images heterozygote 100% (2 of 2)
Gonadal fat pad  Section images heterozygote 50% (1 of 2)
Harderian gland  Section images heterozygote 100% (2 of 2)
Ileum  Section images heterozygote 100% (2 of 2)
Kidney  Section images heterozygote 100% (2 of 2)
Lung  Section images heterozygote 100% (2 of 2)
Mammary gland  Section images heterozygote 50% (1 of 2)
Mesenteric adipose tissue  Section images heterozygote 50% (1 of 2)
Mesenteric lymph node  Section images heterozygote 50% (1 of 2)
Midbrain  Section images heterozygote 100% (2 of 2)
Olfactory lobe  Section images heterozygote 100% (2 of 2)
Ovary  Section images heterozygote 50% (1 of 2)
Oviduct  Section images heterozygote 50% (1 of 2)
Pancreas  Section images heterozygote 50% (1 of 2)
Parotid gland  Section images heterozygote 50% (1 of 2)
Penis  Section images heterozygote 50% (1 of 2)
Pituitary gland  Section images heterozygote 50% (1 of 2)
Quadriceps  Section images heterozygote 100% (2 of 2)
Skin  Section images heterozygote 100% (2 of 2)
Spinal cord  Section images heterozygote 100% (2 of 2)
Stomach  Section images heterozygote 100% (2 of 2)
Sublingual gland  Section images heterozygote 100% (2 of 2)
Submandibular gland  Section images heterozygote 50% (1 of 2)
Testis  Section images heterozygote 50% (1 of 2)
Thyroid gland  Section images heterozygote 100% (2 of 2)
Tongue  Section images heterozygote 50% (1 of 2)
Trachea  Section images heterozygote 100% (2 of 2)
Trigeminal V nerve  Section images heterozygote 100% (2 of 2)
Urinary bladder  Section images heterozygote 100% (2 of 2)
Uterus  Section images heterozygote 50% (1 of 2)
Vagina  Section images heterozygote 50% (1 of 2)
Vas deferens  Section images heterozygote 50% (1 of 2)
Vesicular gland  Section images heterozygote 50% (1 of 2)
Blood N/A heterozygote 0.0% (0 of 2)
Bone marrow N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 100% (2 of 2)
Brainstem N/A heterozygote Not available
Cartilage tissue N/A heterozygote Not available
Cerebral cortex N/A heterozygote Not available
Chest bone N/A heterozygote Not available
Diaphragm N/A heterozygote 0.0% (0 of 2)
Gall bladder N/A heterozygote Not available
Heart N/A heterozygote Not available
Hindlimb N/A heterozygote Not available
Hippocampus N/A heterozygote Not available
Hypothalamus N/A heterozygote Not available
Jejunum N/A heterozygote 0.0% (0 of 2)
Large intestine N/A heterozygote 100% (2 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote Not available
Lymph node N/A heterozygote Not available
Parathyroid gland N/A heterozygote 0.0% (0 of 2)
Peripheral nervous system N/A heterozygote Not available
Peyer's patch N/A heterozygote Not available
Prostate gland N/A heterozygote Not available
Sciatic nerve N/A heterozygote 0.0% (0 of 2)
Skeletal muscle N/A heterozygote Not available
Small intestine N/A heterozygote 100% (2 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach pyloric region N/A heterozygote Not available
Striatum N/A heterozygote Not available
Thymus N/A heterozygote 0.0% (0 of 2)
Vascular system N/A heterozygote Not available
White adipose tissue N/A heterozygote Not available
No Embryo expression data was found for this gene.

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%
blood
bone marrow
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cecum 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
chest bone
colon
diaphragm 0.0%
duodenum 0.0%
epididymis Unavailable
esophagus 0.0%
eye 0.0%
gall bladder 0.0%
gonadal fat pad 0.0%
harderian gland
heart 0.0%
hindlimb 0.0%
hippocampus 0.0%
hypothalamus 0.0%
ileum 0.0%
jejunum
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%
mesenteric adipose tissue 0.0%
mesenteric lymph node
midbrain 0.0%
olfactory lobe 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
parathyroid gland 0.0%
parotid gland 0.0%
penis 0.0%
peripheral nervous system 0.0%
peyers patch 0.0%
pituitary gland 0.0%
prostate gland 0.0%
quadriceps 0.0%
sciatic nerve 0.0%
skeletal muscle 0.0%
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
stomach pyloric region 0.0%
striatum 0.0%
sublingual gland 0.0%
submandibular gland 0.0%
testis 0.0%
thymus 0.0%
thyroid gland 0.0%
tongue 0.0%
trachea 0.0%
trigeminal v nerve 0.0%
urinary bladder
uterus 0.0%
vagina 0.0%
vas deferens Unavailable
vascular system 0.0%
vesicular gland Unavailable
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

Associated Images

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

Phenotype associated images not available

Human diseases caused by Tmub2 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Tmub2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Eosinophilia, Familial
Eosinophilia, Thrombocytopenia, Leukocytosis, Myocardial eosinophilic infiltration, Anemia OMIM:131400
Hypereosinophilic Syndrome, Idiopathic
Hepatomegaly, Eosinophilia, Splenomegaly, Endocardial fibrosis, Myeloproliferative disorder, Rest... OMIM:607685
Immunodeficiency 88
Eosinophilia OMIM:619630
Myeloproliferative Disorder, Chronic, With Eosinophilia
Eosinophilia, Myeloproliferative disorder OMIM:131440
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Neutropenia, Thr... OMIM:202700
Neutropenia, Lethal Congenital, With Eosinophilia
Eosinophilia, Neutropenia OMIM:257100
Ethanolaminosis
Cardiomegaly OMIM:227150
Immunodeficiency 103, Susceptibility To Fungal Infections
Abnormal B cell count, Hypereosinophilia, Abnormal proportion of CD8-positive T cells, Abnormal n... OMIM:212050
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Lymphopenia, Eosinophilia ORPHA:2582
Acute Myelomonocytic Leukemia
Thrombocytopenia, Leukocytosis, Eosinophilia, Anemia ORPHA:517
Nevoid Hypermelanosis, Linear And Whorled
Eosinophilia OMIM:614323
Loeffler Endocarditis
Abnormal morphology of the chordae tendinae of the mitral valve, Pericarditis, Abnormal heart val... ORPHA:75566
Ichthyosis-Prematurity Syndrome
Eosinophilia ORPHA:88621
Immunodeficiency 18
Decreased proportion of CD3-positive T cells, Lymphopenia OMIM:615615
Juvenile Temporal Arteritis
Leukocytosis, Eosinophilia ORPHA:26137
Generalized Eruptive Histiocytosis
Leukemia, Hypereosinophilia, Histiocytosis ORPHA:157991
Autoimmune Lymphoproliferative Syndrome
Hepatomegaly, Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Splenomegal... OMIM:601859
Immunodeficiency 97 With Autoinflammation
Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cells, Eosinophilia, ... OMIM:619802
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Eosinophilia, Autoimmune thrombocytopenia, Decreased proportion of CD8-positive T cells, Hepatosp... ORPHA:169154
Immunodeficiency 32B
Hepatomegaly, Neutrophilia, Eosinophilia, Splenomegaly, Thrombocytopenia, Impaired oxidative burs... OMIM:226990
Immunodeficiency 24
Lymphopenia, Decreased proportion of memory B cells, Decreased CD4:CD8 ratio, Reduced proportion ... OMIM:615897
Autosomal Dominant Severe Congenital Neutropenia
Acute myeloid leukemia, Osteopenia, Aplastic anemia, Eosinophilia, Acute lymphoblastic leukemia, ... ORPHA:486
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections
Osteopenia, Eosinophilia, Craniosynostosis, Cutaneous abscess OMIM:147060
Cinca Syndrome
Papilledema, Eosinophilia, Leukocytosis, Hepatosplenomegaly, Anemia OMIM:607115
Roifman Syndrome
Noncompaction cardiomyopathy, Hypogonadotropic hypogonadism, Eosinophilia, Delayed proximal femor... ORPHA:353298
Kimura Disease
Eosinophilia ORPHA:482
Intellectual Developmental Disorder With Speech Delay, Dysmorphic Facies, And T-Cell Abnormalities
Eosinophilia, Abnormally low T cell receptor excision circle level OMIM:618092
Autoimmune Lymphoproliferative Syndrome, Type Iia
Hepatomegaly, Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Splenomegal... OMIM:603909
Eosinophilopenia
Decreased eosinophil count OMIM:131430
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Hepatomegaly, Abnormal B cell count, Abnormal T cell count, Autoimmune hemolytic anemia, Eosinoph... ORPHA:331206
Roifman Syndrome
Noncompaction cardiomyopathy, Hepatomegaly, Ventricular septal defect, Eosinophilia, Splenomegaly OMIM:616651
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections
Eosinophilia, Craniosynostosis OMIM:618523
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Hepatomegaly, Aplasia of the thymus, Eosinophilia, Genital ulcers, Splenomegaly, B lymphocytopeni... OMIM:602450
Immunodeficiency 7
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Neutropenia OMIM:615387
Immunodeficiency 49
Impaired lymphocyte transformation with phytohemagglutinin, Eosinophilia, T lymphocytopenia, Abno... OMIM:617237
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1
Facial palsy, Eosinophilia OMIM:253600
Cardiomyopathy, Dilated, 1I
Dilated cardiomyopathy, Cardiomegaly OMIM:604765
Mitochondrial Complex I Deficiency, Nuclear Type 39
Hypospadias, Cardiomegaly, Cryptorchidism, Perimembranous ventricular septal defect, Atrial septa... OMIM:620135
Immunodeficiency 11B With Atopic Dermatitis
Eosinophilia OMIM:617638
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Decreased proportion of CD3-positive T cells, Lymphopenia, Eosinophilia, Hepatosplenomegaly ORPHA:169160
Cystic Echinococcosis
Hepatomegaly, Abscess, Eosinophilia, Abnormality of the testis size, Bone cyst, Abnormal heart mo... ORPHA:400
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly... ORPHA:98849
Eosinophil Peroxidase Deficiency
Eosinophil nuclear hypersegmentation OMIM:261500
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Eosinophilia, Cutaneous abscess, Pulmonic stenosis, Atrial septal defect, Sterile abscess OMIM:618282
Omenn Syndrome
Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Hypoplasia ... OMIM:603554
O'Sullivan-Mcleod Syndrome
Tremor, Eosinophilia ORPHA:99965
Omenn Syndrome
Hepatomegaly, Eosinophilia, Splenomegaly, Leukocytosis, Abnormal lymphocyte morphology, Anemia ORPHA:39041
Eosinophilic Fasciitis
Abnormal eosinophil morphology, Eosinophilia ORPHA:3165
Esophagitis, Eosinophilic, 1
Eosinophilia OMIM:610247
Esophagitis, Eosinophilic, 2
Eosinophilia OMIM:613412
Immunodeficiency 25
T lymphocytopenia, Autoimmune hemolytic anemia, Eosinophilia OMIM:610163
Immunodeficiency 50
Lymphopenia, Neutropenia OMIM:300988
Wells Syndrome
Eosinophilia ORPHA:901
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Decreased proportion of CD4-positive helper T cells, Reduced natural killer cell count, Eosinophilia OMIM:243700
Immunodeficiency 21
Aplastic anemia, B lymphocytopenia, Cervical intraepithelial neoplasia, Neutropenia, Monocytopeni... OMIM:614172
Pgm3-Cdg
Hemolytic anemia, Abnormal proportion of CD8-positive T cells, Eosinophilia, Abnormal CD4:CD8 rat... ORPHA:443811
Immunodeficiency 105
Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, Hepatosplenomegaly, T l... OMIM:619924
Combined Immunodeficiency Due To Zap70 Deficiency
Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Absence of CD8-positive T... ORPHA:911
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Craniosynostosis, Cardiomegaly ORPHA:88643
Reticular Dysgenesis
Leukopenia, Congenital agranulocytosis, Lymphopenia, Hypoplasia of the thymus OMIM:267500
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Eosinophilia, Autoimmune thrombocytopenia, Anemia, Coombs-positive hemolytic anemia, Neutropenia,... OMIM:304790
Autoinflammation, Immune Dysregulation, And Eosinophilia
Eosinophilia, Hepatosplenomegaly OMIM:618999
Peeling Skin Syndrome 1
Eosinophilia OMIM:270300
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Lymphop... ORPHA:444463
Infantile Sialic Acid Storage Disease
Osteopenia, Hepatomegaly, Cardiomegaly, Splenomegaly, Vacuolated lymphocytes OMIM:269920
Eosinophilic Gastroenteritis
Leukocytosis, Eosinophilia, Anemia ORPHA:2070
Immunodeficiency 52
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Increase... OMIM:617514
Immunodeficiency 76
Splenomegaly, Lymphopenia, B lymphocytopenia, T lymphocytopenia OMIM:619164
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Hepatomegaly, Autoimmune hemolytic anemia, Severe B lymphocytopenia, Aplasia of the thymus, Eosin... OMIM:102700
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Lymphopenia, Autoimmune hemolytic anemia, Plasmacytosis OMIM:247800
Autoinflammation With Arthritis And Dyskeratosis
Splenomegaly, Hepatomegaly, Autoimmune hemolytic anemia, Hypereosinophilia OMIM:617388
Hereditary Folate Malabsorption
Pancytopenia, Eosinophilia, Thrombocytopenia, Megaloblastic anemia ORPHA:90045
Drug Reaction With Eosinophilia And Systemic Symptoms
Myocarditis, Eosinophilia, Lymphocytosis ORPHA:139402
Idiopathic Acute Eosinophilic Pneumonia
Abnormal eosinophil morphology ORPHA:724
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Hepatomegaly, Ventricular septal defect, Splenomegaly, Reduced bone mineral density, Leukopenia, ... OMIM:620210
Neuraminidase Deficiency
Hepatomegaly, Bone-marrow foam cells, Cardiomegaly, Splenomegaly, Vacuolated lymphocytes, Cardiom... OMIM:256550
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Lymphopenia, Hypoplasia of the thymus OMIM:200900
Attrv30M Amyloidosis
Cardiomyopathy, Abnormal autonomic nervous system physiology, Cardiomegaly ORPHA:85447
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Lymphopenia, Delayed ossification of carpal bones, Eosinophilia OMIM:617425
Hemochromatosis, Type 3
Hypogonadotropic hypogonadism, Cardiomyopathy, Neutropenia, Lymphopenia, Anemia OMIM:604250
Eosinophilic Granulomatosis With Polyangiitis
Abnormal pericardium morphology, Eosinophilia, Myocarditis, Endocarditis, Hypertrophic cardiomyop... ORPHA:183
Autoimmune Lymphoproliferative Syndrome
Hepatomegaly, Reticulocytosis, Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytop... ORPHA:3261
Idiopathic Chronic Eosinophilic Pneumonia
Leukocytosis, Hypereosinophilia ORPHA:2902
Attrv122I Amyloidosis
Abnormal enteric nervous system morphology, Cardiomegaly, Hypertrophic cardiomyopathy, Aortic val... ORPHA:85451
Immunodeficiency 23
Hemolytic anemia, Eosinophilia, Abscess, Neutropenia, Lymphopenia OMIM:615816
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Hepatomegaly, Craniosynostosis, Decreased proportion of CD8-positive T cells, Hypereosinophilia, ... ORPHA:508533
Aspergillosis
Eosinophilia, Neutropenia ORPHA:1163
Autosomal Dominant Hyper-Ige Syndrome
Osteopenia, Eosinophilia, Craniosynostosis ORPHA:2314
Congenital Toxoplasmosis
Hepatomegaly, Thrombocytopenia, Anemia, Cardiomegaly ORPHA:858
Cernunnos-Xlf Deficiency
Anemia, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Thrombocytopenia ORPHA:169079
Mitochondrial Complex I Deficiency, Nuclear Type 36
Optic disc pallor, Perimembranous ventricular septal defect, Cardiomegaly OMIM:619170
Cardiomyopathy, Familial Hypertrophic, 27
Cardiomegaly, Concentric hypertrophic cardiomyopathy, Ventricular septal hypertrophy, Cardiomyocy... OMIM:618052
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Macroorchidism, Cardiomegaly OMIM:300886
Alveolar Echinococcosis
Liver abscess, Abnormal pericardium morphology, Eosinophilia, Bone cyst, Abnormal spleen morpholo... ORPHA:284
Combined Oxidative Phosphorylation Deficiency 10
Cardiomegaly, Pericardial effusion, Optic atrophy, Dystonia, Hypertrophic cardiomyopathy OMIM:614702
Hemochromatosis, Type 1
Hepatomegaly, Hypogonadotropic hypogonadism, Cardiomegaly, Splenomegaly, Osteoporosis, Cardiomyop... OMIM:235200
Acute Generalized Exanthematous Pustulosis
Leukocytosis, Neutrophilia, Eosinophilia, Neutropenia ORPHA:293173
Sneddon Syndrome
Tremor, Lymphopenia, Bicuspid aortic valve, Facial palsy OMIM:182410
Immunodeficiency 13
Lymphopenia, T lymphocytopenia, B lymphocytopenia, Decreased proportion of CD4-positive helper T ... OMIM:615518
Combined Oxidative Phosphorylation Deficiency 8
Hypertrophic cardiomyopathy, Cardiomegaly OMIM:614096
Cyclic Neutropenia
Cyclic neutropenia, Perianal abscess, Decreased eosinophil count, Lymphopenia, Tooth abscess, Thr... ORPHA:2686
Late-Onset Isolated Acth Deficiency
Normocytic anemia, Macrocytic anemia, Orthostatic hypotension, Eosinophilia, Generalized bone dem... ORPHA:199299
Congenital Myopathy 8
Cardiomegaly OMIM:618654
Idiopathic Hypereosinophilic Syndrome
Myelofibrosis, Neutrophilia, Eosinophilia, Splenomegaly, Leukocytosis, Dilated cardiomyopathy, Th... ORPHA:3260
Netherton Syndrome
Hypereosinophilia OMIM:256500
Bone Marrow Failure Syndrome 6
Osteopenia, Persistence of hemoglobin F, Increased mean corpuscular volume, Bone marrow hypocellu... OMIM:618849
Igg4-Related Aortitis
Hypereosinophilia ORPHA:449400
Mucopolysaccharidosis, Type Iiib
Hepatomegaly, Cardiomegaly, Splenomegaly, Asymmetric septal hypertrophy, Dense calvaria OMIM:252920
Mucoepithelial Dysplasia, Hereditary
Cor pulmonale, Eosinophilia OMIM:158310
Transcobalamin Deficiency
Pancytopenia, Lymphopenia, Thrombocytopenia, Neutropenia ORPHA:859
Noonan Syndrome 12
Lymphopenia, Tetralogy of Fallot, Ventricular septal defect, Thrombocytopenia OMIM:618624
Thrombocytopenia-Absent Radius Syndrome
Ventricular septal defect, Eosinophilia, Thrombocytopenia, Leukocytosis, Hepatosplenomegaly, Apla... OMIM:274000
Mulibrey Nanism
Hepatomegaly, Cardiomegaly, Myocardial fibrosis, Pericardial constriction, Thickened cortex of lo... OMIM:253250
Iga Pemphigus
Eosinophilia, Cutaneous abscess ORPHA:555905
Congenitally Uncorrected Transposition Of The Great Arteries
Levotransposition of the great arteries, Hepatomegaly, Ventricular septal defect, Abnormal pulmon... ORPHA:860
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly OMIM:613576
Coccidioidomycosis
Pericarditis, Abnormal sperm morphology, Abscess, Eosinophilia, Abnormality of the spleen, Osteol... ORPHA:228123
Neurooculocardiogenitourinary Syndrome
Ventricular septal defect, Cardiomegaly, Bilateral cryptorchidism, Atrial septal defect, Patent f... OMIM:618652
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Streak ovary, Abnormality of female external genitalia, Testicular dysgenesis, Hypoplasia of the ... ORPHA:168563
Wiskott-Aldrich Syndrome
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m... OMIM:301000
Amed Syndrome, Digenic
Acute myeloid leukemia, Anemia, Leukopenia, Hypoplasia of the uterus, Bone marrow hypocellularity... OMIM:619151
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Decreased proportion of class-switched memory B cells, Lymphopenia, Decreased proportion of CD4+C... OMIM:619846
Familial Atrial Myxoma
Pulmonic valve myxoma, Cardiac myxoma, Bacterial endocarditis, Cardiomegaly ORPHA:615
Allergic Bronchopulmonary Aspergillosis
Abnormal eosinophil morphology ORPHA:1164
Uruguay Faciocardiomusculoskeletal Syndrome
Ventricular hypertrophy, Left atrial enlargement, Cardiomegaly, Cardiomyopathy, Left ventricular ... OMIM:300280
46,Xy Sex Reversal 3
Penoscrotal hypospadias, Hypoplasia of the uterus, Sex reversal, Gonadal dysgenesis, Exaggerated ... OMIM:612965
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Abnormally low T cell receptor excision circle level, Pancytopenia, Impaired neutrophil chemotaxi... OMIM:618986
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Hemolytic anemia, Lymphopenia, Thrombocytopenia, Genital ulcers OMIM:616744
Angiostrongyliasis
Hypereosinophilia ORPHA:74
Pseudo-Torch Syndrome 3
Leukocytosis, Congenital thrombocytopenia, Anemia, Cardiomegaly OMIM:618886
Leydig Cell Hypoplasia
Abnormal internal genitalia, Hypospadias, Abnormal external genitalia, Abnormal vas deferens morp... ORPHA:755
Combined Oxidative Phosphorylation Deficiency 41
Anemia, Cardiomegaly OMIM:618838
Fixed Subaortic Stenosis
Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Abnormal heart morphology, Abnorm... ORPHA:3092
Hsd10 Disease, Infantile Type
Cardiomegaly, Optic atrophy, Choreoathetosis, Dystonia, Hypertrophic cardiomyopathy ORPHA:391428
Igg4-Related Pachymeningitis
Abnormality of cervical plexus, Abnormality of the brachial nerve plexus, Eosinophilia ORPHA:449427
Mogs-Cdg
Hepatomegaly, Absent brainstem auditory responses, External genital hypoplasia, Cardiomegaly, Opt... ORPHA:79330
Cantu Syndrome
Bicuspid aortic valve, Cardiomegaly, Pericardial effusion, Osteoporosis, Congenital hypertrophy o... OMIM:239850
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Hepatomegaly, Dilated cardiomyopathy, Cardiomegaly OMIM:600649
46,Xy Sex Reversal 11
Abnormal internal genitalia, Vanishing testis, Aplasia of the uterus, Gonadal dysgenesis with fem... OMIM:273250
Adult Idiopathic Neutropenia
Abnormal neutrophil count, Monocytosis, Neutropenia, Monocytopenia, Lymphopenia ORPHA:2688
Incontinentia Pigmenti
Leukocytosis, Optic atrophy, Eosinophilia OMIM:308300
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Hepatomegaly, Cardiomegaly OMIM:619064
Carnitine Deficiency, Systemic Primary
Hepatomegaly, Cardiomegaly, Cardiomyopathy, Endocardial fibroelastosis, Hypertrophic cardiomyopathy OMIM:212140
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Osteopenia, Ventricular septal defect, Hypospadias, Cardiomegaly, Micropenis, Hypertrophic cardio... OMIM:616897
Incontinentia Pigmenti
Osteolysis, Eosinophilia ORPHA:464
Lymphatic Filariasis
Orchitis, Epididymitis, Hypereosinophilia, Vaginal hydrocele, Hydrocele testis, Abnormality of th... ORPHA:2035
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Macrocytic anemia, Pancytopenia, Anemia of inadequate production, Megaloblastic anemia, Thrombocy... OMIM:617780
Sickle Cell Disease
Hepatomegaly, Hemolytic anemia, Cardiomegaly, Splenomegaly, Leukocytosis, Splenic infarction, Inc... OMIM:603903
Sandhoff Disease
Hepatomegaly, Exaggerated startle response, Orthostatic hypotension, Cardiomegaly, Hepatosplenome... OMIM:268800
Congenital Tricuspid Valve Dysplasia
Hepatomegaly, Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous return, Abnormal tri... ORPHA:555874
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Ventricular hypertrophy, Hypertrophic cardiomyopathy, Cardiomegaly OMIM:619051
Immunodeficiency 36 With Lymphoproliferation
Splenomegaly, Chronic lymphatic leukemia, Increased proportion of transitional B cells, Decreased... OMIM:616005
Tropical Endomyocardial Fibrosis
Hepatomegaly, Right ventricular cardiomyopathy, Left atrial enlargement, Eosinophilia, Cardiomega... ORPHA:75565
Gaucher Disease, Type Iiic
Hepatomegaly, Mitral valve calcification, Pancytopenia, Cardiomegaly, Splenomegaly, Aortic valve ... OMIM:231005
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Hepatomegaly, Cardiomegaly, Pericardial effusion, Muscular ventricular s... OMIM:115197
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Osteopenia, Hypogonadotropic hypogonadism, Cryptorchidism, Hypoplasia of the uterus, Azoospermia,... OMIM:614837
Cardiac-Urogenital Syndrome
Bifid scrotum, Scimitar anomaly, Atrial septal defect, Micropenis, Mesocardia, Penoscrotal hyposp... OMIM:618280
Immunodeficiency 89 And Autoimmunity
Decreased eosinophil count, Hypochromic microcytic anemia OMIM:619632
Partial Androgen Insensitivity Syndrome
Bifid scrotum, Fused labia majora, Clitoral hypertrophy, Hypospadias, Bilateral cryptorchidism, P... ORPHA:90797
Complete Androgen Insensitivity Syndrome
Abnormal uterine cervix morphology, Testicular neoplasm, Bilateral cryptorchidism, Blind vagina, ... ORPHA:99429
Immunodeficiency 85 And Autoimmunity
T lymphocytopenia, Decreased proportion of CD4-positive helper T cells, Lymphopenia, Decreased pr... OMIM:619510
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Exaggerated startle response, Tremor, Cryptorchidism, Atrial septal defect, Patent foramen ovale OMIM:620327
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Exaggerated startle response, Dysplastic testes, Cryptorchidism, Testicular dysgenesis, Ambiguous... OMIM:608800
Intellectual Developmental Disorder, Autosomal Recessive 54
Exaggerated startle response OMIM:617028
Amyloidosis, Hereditary, Transthyretin-Related
Cardiomegaly, Tremor, Cardiomyopathy, Abnormal autonomic nervous system physiology, Orthostatic h... OMIM:105210
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Cardiomegaly, Abnormal atrioventricular valve morphology, Mitral valve prolapse, Macroorchidism, ... ORPHA:324410
Coronary Arterial Fistula
Bicuspid aortic valve, Cardiomegaly, Abnormal heart morphology, Right ventricular dilatation, Bac... ORPHA:2041
Sandhoff Disease, Infantile Form
Exaggerated startle response, Mitral valve prolapse, Hepatosplenomegaly ORPHA:309155
Immunodeficiency 110 With Lymphoproliferation
Autoimmune hemolytic anemia, Secundum atrial septal defect, Neutropenia, Lymphopenia, Patent fora... OMIM:614868
Sarcoidosis
Hepatomegaly, Hemolytic anemia, Eosinophilia, Facial palsy, Abnormal reproductive system morpholo... ORPHA:797
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7
Osteopenia, Cryptorchidism, Anemia, Lymphopenia, Thrombocytopenia OMIM:620365
Symptomatic Form Of Hfe-Related Hemochromatosis
Hepatomegaly, Hypogonadotropic hypogonadism, Cardiomegaly, Splenomegaly, Osteoporosis, Cardiomyop... ORPHA:465508
Igg4-Related Ophthalmic Disease
Abnormal fifth cranial nerve morphology, Eosinophilia, Abnormality of infra-orbital nerve, Orchit... ORPHA:449563
Alpha-N-Acetylgalactosaminidase Deficiency
Cardiomegaly ORPHA:3137
Timothy Syndrome
Ventricular septal defect, Tetralogy of Fallot, Patent foramen ovale, Cardiomegaly OMIM:601005
Idiopathic Pulmonary Hemosiderosis
Hepatosplenomegaly, Hepatomegaly, Iron deficiency anemia, Cardiomegaly ORPHA:99931
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Ventricular hypertrophy, Hepatomegaly, Hemolytic anemia, Reticulocytosis, Anisocytosis, Cardiomeg... OMIM:618278
Epidermodysplasia Verruciformis, Susceptibility To, 5
T lymphocytopenia, Lymphopenia OMIM:618309
Heterotaxy, Visceral, 1, X-Linked
Cardiomegaly, Asplenia, Dextrotransposition of the great arteries, Atrial septal defect, Atrioven... OMIM:306955
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Optic disc pallor, Exaggerated startle response, Optic atrophy OMIM:609541
Craniofaciofrontodigital Syndrome
Osteopenia, Bicuspid aortic valve, Ventricular septal defect, Abnormal heart valve morphology, Ca... ORPHA:363705
Arterial Calcification, Generalized, Of Infancy, 2
Hypophosphatemic rickets, Right atrial enlargement, Cardiomegaly OMIM:614473
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Optic disc pallor, Exaggerated startle response, Optic atrophy ORPHA:320406
Diethylstilbestrol Syndrome
Hypospadias, Vaginal neoplasm, Abnormal reproductive system morphology, Cryptorchidism, Testicula... ORPHA:1916
Hydatidiform Mole
Enlarged uterus, Anemia ORPHA:99927
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Delayed epiphyseal ossification, Cardiomegaly OMIM:613320
T-Cell Immunodeficiency With Thymic Aplasia
Aplasia of the thymus, Hepatosplenomegaly, T lymphocytopenia, Abnormally low T cell receptor exci... OMIM:242700
Isolated Right Ventricular Hypoplasia
Cardiomegaly, Muscular ventricular septal defect, Atrial septal defect, Patent foramen ovale, Rig... ORPHA:439
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Cardiomegaly ORPHA:42
46,Xy Sex Reversal 7
Streak ovary, Hypoplasia of the fallopian tube, Hypoplasia of the uterus, Sex reversal, Gonadobla... OMIM:233420
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Hepatomegaly, Decreased proportion of naive T cells, Abnormally low T cell receptor excision circ... ORPHA:276
Igg4-Related Submandibular Gland Disease
Prostatitis, Eosinophilia ORPHA:449432
Aromatic L-Amino Acid Decarboxylase Deficiency
Torticollis, Exaggerated startle response, Oculogyric crisis, Limb tremor, Choreoathetosis, Athet... OMIM:608643
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6
Pancytopenia, Lymphopenia, Bone marrow hypocellularity, Abnormally low T cell receptor excision c... OMIM:619767
Refsum Disease, Classic
Cardiomyopathy, Cardiomegaly OMIM:266500
Histiocytosis-Lymphadenopathy Plus Syndrome
Hepatomegaly, Ventricular septal defect, Hypergonadotropic hypogonadism, Cardiomegaly, Splenomega... OMIM:602782
Mirage Syndrome
Hypospadias, Hypergonadotropic hypogonadism, Radial club hand, Cryptorchidism, Anemia, Leukopenia... OMIM:617053
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Exaggerated startle response, Dilated cardiomyopathy, Optic atrophy, Myocardial fibrosis, Transpo... OMIM:253800
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Hepatomegaly, Cor triatriatum, Intermittent thrombocytopenia, Secundum atrial septal defect, Sple... OMIM:612541
Lethal Congenital Contracture Syndrome 10
Torticollis, Overriding aorta, Ventricular septal defect, Cardiomegaly, Hypoplasia of the thymus OMIM:617022
Stiff-Person Syndrome
Exaggerated startle response, Anemia, Opisthotonus OMIM:184850
Carnitine Palmitoyltransferase I Deficiency
Hepatomegaly, Cardiomegaly OMIM:255120
Aorta Coarctation
Bicuspid aortic valve, Cardiomegaly, Aortic valve atresia, Perimembranous ventricular septal defe... ORPHA:1457
Gaucher Disease, Perinatal Lethal
Hepatomegaly, Cardiomegaly, Splenomegaly, Thrombocytopenia, Hepatosplenomegaly, Opisthotonus, Anemia OMIM:608013
Igg4-Related Kidney Disease
Pericarditis, Prostatitis, Eosinophilia, Enlarged kidney ORPHA:449395
Combined Oxidative Phosphorylation Deficiency 33
Left ventricular hypertrophy, Hepatomegaly, Cardiomyopathy, Cardiomegaly OMIM:617713
Leukodystrophy, Hypomyelinating, 13
Prolonged brainstem auditory evoked potentials, Exaggerated startle response, Optic atrophy OMIM:616881
Hyperekplexia-Epilepsy Syndrome
Exaggerated startle response ORPHA:163985
Wiskott-Aldrich Syndrome
Hemolytic anemia, Abnormal eosinophil morphology, Microcytic anemia, Thrombocytopenia, Chronic le... ORPHA:906
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatomegaly, Hypertrophic cardiomyopathy, Cardiomegaly OMIM:201475
46,Xx Sex Reversal 2
Bifid scrotum, Hypoplasia of the vagina, Small scrotum, True hermaphroditism, Ovotestis, Perineal... OMIM:278850
Mullerian Aplasia And Hyperandrogenism
Aplasia of the fallopian tube, Aplasia of the vagina, Abnormal external genitalia, Aplasia of the... OMIM:158330
Double Outlet Left Ventricle
Double outlet left ventricle, Ventricular septal defect, Cardiomegaly, Cryptorchidism, Bicuspid p... ORPHA:3427
Purine Nucleoside Phosphorylase Deficiency
Autoimmune hemolytic anemia, Pure red cell aplasia, Autoimmune thrombocytopenia, Tremor, Splenome... OMIM:613179
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Hemolytic anemia, Abscess, Perianal abscess, Splenomegaly, Hepatosplenomegaly, Impaired oxidative... OMIM:618935
Thrombocytopenia-Absent Radius Syndrome
Aplasia of the uterus, Abnormal cardiac septum morphology, Tetralogy of Fallot, Thrombocytopenia ORPHA:3320
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Osteopenia, Bicuspid aortic valve, Craniosynostosis, Cardiomegaly, Osteoporosis, Mitral valve pro... OMIM:245600
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Hepatosp... ORPHA:35078
Cantú Syndrome
Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Osteoporosis, Cardiomegaly ORPHA:1517
Beck-Fahrner Syndrome
Ventricular septal defect, Cardiomegaly OMIM:618798
Ataxia-Telangiectasia
Female hypogonadism, Tremor, Choreoathetosis, T lymphocytopenia, Acute lymphoblastic leukemia, Ab... OMIM:208900
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Female external genitalia in individual with 46,XY karyotype, Cryptorchidism, Male pseudohermaphr... ORPHA:168558
Testicular Agenesis
Abnormal vas deferens morphology, Urethrovaginal fistula, Absent external genitalia, Hypoplasia o... ORPHA:325124
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Female external genitalia in individual with 46,XY karyotype, Cryptorchidism, Male pseudohermaphr... ORPHA:289548
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Noncompaction cardiomyopathy, Thrombocytopenia, Reticulocytopenia, Leukopenia, B lymphocytopenia,... ORPHA:508542
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Cardiomyopathy, Optic atrophy, Cardiomegaly OMIM:619259
Tay-Sachs Disease
Exaggerated startle response, Tremor, Precocious puberty, Optic atrophy, Hepatosplenomegaly, Dyst... ORPHA:845
Fucosidosis
Hepatomegaly, Cardiomegaly, Splenomegaly, Vacuolated lymphocytes, Dystonia OMIM:230000
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Ventricu... OMIM:243150
Cirrhotic Cardiomyopathy
Hepatomegaly, Left atrial enlargement, Cardiomegaly, Left ventricular hypertrophy, Right atrial e... ORPHA:57777
Complete Atrioventricular Septal Defect
Hepatomegaly, Cardiomegaly, Complete atrioventricular canal defect, Primum atrial septal defect, ... ORPHA:1329
Developmental And Epileptic Encephalopathy 68
Exaggerated startle response OMIM:618201
Danon Disease
Myocardial necrosis, Cardiomegaly, Dilated cardiomyopathy, Myocardial fibrosis, Hypertrophic card... OMIM:300257
Familial Aortic Dissection
Cardiomegaly ORPHA:229
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
Cushing Disease
Optic nerve compression, Leukocytosis, Osteoporosis, Decreased eosinophil count, Lymphopenia ORPHA:96253
Renal And Mullerian Duct Hypoplasia
Hydrocele testis, Anteriorly displaced urethral meatus, Aplasia of the uterus OMIM:266810
Gm2 Gangliosidosis, Ab Variant
Exaggerated startle response, Dystonia ORPHA:309246
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Head titubation, Optic atrophy, Rectovaginal fistula, Dystonia, Lymphopenia, Intention tremor OMIM:619708
Viss Syndrome
Ventricular septal defect, Coronary sinus enlargement, Hypereosinophilia, Mitral valve prolapse, ... OMIM:619472
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Brachial plexus neuropathy, Right ventricular hypertrophy, Cardiomegaly ORPHA:268
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Septate vagina, Uterus didelphys, Aplasia of the vagina, Pseudopapilledema, Aplasia of the uterus OMIM:146255
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Osteopenia, Abnormal bone ossification, Cardiomegaly ORPHA:2463
Hyperekplexia 2
Exaggerated startle response OMIM:614619
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Hypoplasia of the vagina, Hypospadias, Hypergonadotropic hypogonadism, Enlarged polycystic ovarie... ORPHA:90796
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Bifid scrotum, Hypospadias, Precocious puberty in females, Bilateral cryptorchidism, Ovarian cyst... ORPHA:90793
Arterial Calcification, Generalized, Of Infancy, 1
Hypophosphatemic rickets, Dilated cardiomyopathy, Cardiomegaly OMIM:208000
Naxos Disease
Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Cardiomega... OMIM:601214
Hyperekplexia 3
Exaggerated startle response OMIM:614618
Stiff Person Spectrum Disorder
Exaggerated startle response ORPHA:3198
Dyskeratosis Congenita, Autosomal Dominant 1
Aplastic anemia, Osteoporosis, Anemia, Leukopenia, Increased mean corpuscular volume, Bone marrow... OMIM:127550
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Osteopenia, Autoimmune hemolytic anemia, Generalized osteoporosis, Autoimmune thrombocytopenia, N... ORPHA:391487
Gm1 Gangliosidosis Type 1
Cardiomyopathy, Exaggerated startle response, Dystonia, Hepatosplenomegaly ORPHA:79255
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Osteopenia, Optic disc pallor, Exaggerated startle response, Uterine prolapse, Bicuspid aortic va... ORPHA:438213
Isotretinoin-Like Syndrome
Bicuspid aortic valve, Abnormal cardiac ventricle morphology, Conotruncal defect, Aortic valve st... ORPHA:2306
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Septate vagina, Uterus didelphys, Abnormal heart morphology, Aplasia of the uterus, Vaginal atresia ORPHA:2237
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Tremor, Exaggerated startle response, Truncal titubation OMIM:618056
Mucopolysaccharidosis Type 3
Hepatomegaly, Craniofacial hyperostosis, Cardiomegaly, Splenomegaly, Optic atrophy, Reduced bone ... ORPHA:581
Meckel Syndrome 14
Ambiguous genitalia, Decreased calvarial ossification, Aplasia of the uterus, Single ventricle OMIM:619879
Fucosidosis
Hepatomegaly, Cardiomegaly ORPHA:349
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Hepatomegaly, Dilated cardiomyopathy, Enlarged kidney, Cardiomegaly OMIM:608836
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
Exaggerated startle response, Optic nerve hypoplasia OMIM:617864
Primary Sclerosing Cholangitis
Osteopenia, Hepatomegaly, Abnormal eosinophil morphology, Splenomegaly, Osteoporosis, Hepatosplen... ORPHA:171
Neurodegeneration And Seizures Due To Copper Transport Defect
Glandular hypospadias, Cardiomegaly OMIM:620306
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Bicuspid aortic valve, Ventricular septal defect, Partial atrioventricular canal defect, Cardiome... OMIM:620066
Spastic Tetraplegia And Axial Hypotonia, Progressive
Exaggerated startle response OMIM:618598
Lumbar Syndrome
Bifid scrotum, Hypospadias, Bifid uterus, Cryptorchidism, Hypoplastic labia majora, Ambiguous gen... ORPHA:83628
Congenital Disorder Of Glycosylation, Type It
Hepatomegaly, Dilated cardiomyopathy, Ventricular septal defect, Cardiomegaly OMIM:614921
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Lymphopenia, Aganglionic megacolon, Anemia, Reduced bone mineral density ORPHA:935
Glycogen Storage Disease Of Heart, Lethal Congenital
Cardiomegaly, Pericardial effusion, Increased myocardial glycogen content, Biventricular hypertro... OMIM:261740
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures
Exaggerated startle response OMIM:620114
Developmental And Epileptic Encephalopathy 95
Cryptorchidism, Hepatomegaly, Cardiomegaly OMIM:618143
Paternal Uniparental Disomy Of Chromosome 6
Hepatomegaly, Ventricular septal defect, Cardiomegaly, Precocious puberty, Cryptorchidism, Labial... ORPHA:96191
Glycine Encephalopathy With Normal Serum Glycine
Exaggerated startle response, Optic atrophy OMIM:617301
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Left ventricular hypertrophy, Hepatomegaly, Hypertrophic cardiomyopathy, Cardiomegaly ORPHA:308552
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, Absent natural kil... OMIM:600802
Tay-Sachs Disease
Exaggerated startle response OMIM:272800
Hyperekplexia 1
Exaggerated startle response OMIM:149400
Gm2-Gangliosidosis, Ab Variant
Exaggerated startle response, Dystonia OMIM:272750
Truncus Arteriosus
Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, Abnormal heart morpholo... ORPHA:3384
Mayer-Rokitansky-Kuster-Hauser Syndrome
Hypoplasia of the uterus, Aplasia of the vagina OMIM:277000
Abetalipoproteinemia
Osteopenia, Hepatomegaly, Reticulocytosis, Acanthocytosis, Cardiomegaly, Anemia ORPHA:14
Aicardi-Goutières Syndrome
Cardiomegaly, Tremor, Neonatal alloimmune thrombocytopenia, Hepatosplenomegaly, Chronic lymphatic... ORPHA:51
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Cardiomegaly, Tremor, C... OMIM:300967
Whim Syndrome
Tetralogy of Fallot, Abnormal neutrophil morphology, Neutropenia, Cervix cancer, Lymphopenia ORPHA:51636
Mucolipidosis Ii Alpha/Beta
Osteopenia, Hepatomegaly, Craniosynostosis, Cardiomegaly, Splenomegaly, Hypertrophic cardiomyopat... OMIM:252500
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Abnormal myocardium morphology, Hepatomegaly, Cardiomyopathy, Cardiomegaly ORPHA:228308
Ogden Syndrome
Torticollis, Bicuspid aortic valve, Left atrial enlargement, Ventricular septal defect, Cardiomeg... OMIM:300855
Lethal Acantholytic Erosive Disorder
Cardiomyopathy, Cardiomegaly ORPHA:158687
Developmental And Epileptic Encephalopathy 49
Exaggerated startle response, Optic atrophy OMIM:617281
Histiocytoid Cardiomyopathy
Hepatomegaly, Ventricular septal defect, Cardiomegaly, Optic atrophy, Polycystic ovaries ORPHA:137675
Glycogen Storage Disease Ii
Splenomegaly, Hepatomegaly, Cardiomegaly OMIM:232300
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Exaggerated startle response, Dystonia ORPHA:438216
Plaa-Associated Neurodevelopmental Disorder
Exaggerated startle response, Optic atrophy, Dystonia ORPHA:521426
Congenital Tracheomalacia
Ventricular septal defect, Cardiomegaly, Partial anomalous pulmonary venous return, Abnormal hear... ORPHA:95430
Absence Of The Pulmonary Artery
Cardiomegaly, Abnormal heart morphology, Abnormal cardiac septum morphology, Atrial septal defect... ORPHA:980
Beckwith-Wiedemann Syndrome
Hepatomegaly, Overgrowth of external genitalia, Cardiomegaly, Cryptorchidism, Pancreatic hyperpla... OMIM:130650
Asparagine Synthetase Deficiency
Tremor, Exaggerated startle response, Optic nerve hypoplasia OMIM:615574
Immunodeficiency 55
Absent natural killer cells, Lymphopenia, Neutropenia OMIM:617827
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Exaggerated startle response, Optic atrophy OMIM:617527
Yunis-Varon Syndrome
Absent sternal ossification, Ventricular septal defect, Hypospadias, Cardiomegaly, Cryptorchidism... ORPHA:3472
Townes-Brocks Syndrome 2
Rectovaginal fistula, Hypospadias, Bifid uterus OMIM:617466
Cushing Syndrome Due To Ectopic Acth Secretion
Leukocytosis, Osteoporosis, Prostate cancer, Decreased eosinophil count, Lymphopenia ORPHA:99889
Glycogen Storage Disease Due To Acid Maltase Deficiency
Hepatomegaly, Cardiomegaly, Osteoporosis, Left ventricular hypertrophy, Hypertrophic cardiomyopathy ORPHA:365
Familial Idiopathic Dilatation Of The Right Atrium
Hepatomegaly, Cardiomegaly, Right ventricular hypertrophy, Atrial septal dilatation, Right atrial... ORPHA:1677
Liver Disease, Severe Congenital
Hepatomegaly, Ventricular septal defect, Left atrial enlargement, Hypospadias, Cardiomegaly, Sple... OMIM:619991
Dermatomyositis
Myocarditis, Pericarditis, Abnormal eosinophil morphology ORPHA:221
Oeis Complex
Bifid uterus, Epispadias, Cryptorchidism, Ambiguous genitalia, female, Vesicovaginal fistula, Amb... OMIM:258040
Bohring-Opitz Syndrome
Abnormal cardiac septum morphology, Optic atrophy, Cardiomegaly ORPHA:97297
Mayer-Rokitansky-Küster-Hauser Syndrome
Hypoplasia of the vagina, Aplasia of the uterus ORPHA:3109
Pontocerebellar Hypoplasia Type 7
Abnormal scrotal rugation, Cryptorchidism, Optic atrophy, Gonadal dysgenesis, Microphallus, Absen... ORPHA:284339
Okamoto Syndrome
Ventricular septal defect, Bifid uterus, Splenomegaly, Abnormal left ventricle morphology, Primum... ORPHA:2729
Williams Syndrome
Abnormal endocardium morphology, Osteopenia, Increased bone mineral density, Overriding aorta, Bi... ORPHA:904
Fanconi Anemia, Complementation Group L
Aplasia of the uterus, Micropenis, Bone marrow hypocellularity, Anemia OMIM:614083
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Fused labia majora, Abnormal external genitalia, Hypogonadotropic hypogonadism, Precocious pubert... ORPHA:90794
Congenital Total Pulmonary Venous Return Anomaly
Hepatomegaly, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Mitral atresia, Ca... ORPHA:99125
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Bicuspid aortic valve, Cardiomegaly ORPHA:91387
Beckwith-Wiedemann Syndrome
Hepatomegaly, Cardiomegaly, Splenomegaly, Cryptorchidism, Gonadoblastoma, Hypertrophic cardiomyop... ORPHA:116
Ehlers-Danlos Syndrome, Vascular Type
Cryptorchidism, Cystocele, Foot acroosteolysis, Osteolytic defects of the phalanges of the hand, ... OMIM:130050
Proteasome-Associated Autoinflammatory Syndrome 1
Hepatomegaly, Microcytic anemia, Cardiomegaly, Splenomegaly, Epididymitis, Thrombocytopenia OMIM:256040
Exstrophy-Epispadias Complex
Bifid scrotum, Bifid uterus, Epispadias, Cryptorchidism, Cystocele, Penoscrotal transposition, Ab... ORPHA:322
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome
Abnormal reproductive system morphology, Craniosynostosis, Bifid uterus ORPHA:1521
Lethal Omphalocele-Cleft Palate Syndrome
Bifid uterus ORPHA:2736
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Exaggerated startle response, Ventricular septal defect, Hypospadias, Cryptorchidism, Hydrocele t... OMIM:619522
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Aplasia of the vagina, Aplasia of the uterus, Absent external genitalia OMIM:271520
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Aplasia of the vagina, Optic nerve hypoplasia, Aplasia of the uterus ORPHA:457284
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Cardiomegaly ORPHA:79280
Hydrolethalus Syndrome 1
Accessory spleen, Ventricular septal defect, Hypospadias, Bifid uterus, Complete atrioventricular... OMIM:236680
Chromosome 17Q12 Deletion Syndrome
Cryptorchidism, Ovarian cyst, Aplasia of the vagina, Aplasia of the uterus, Unicornuate uterus OMIM:614527
Wolf-Hirschhorn Syndrome
Accessory spleen, Hypospadias, Ventricular septal defect, Precocious puberty, Cryptorchidism, Abn... OMIM:194190
Phocomelia, Schinzel Type
Cryptorchidism, Hypoplasia of penis, Aplasia of the uterus ORPHA:2879
Singleton-Merten Syndrome 1
Osteopenia, Mitral valve calcification, Cardiomegaly, Aortic valve calcification, Osteoporosis, O... OMIM:182250
Coffin-Siris Syndrome 1
Ventricular septal defect, Hypospadias, Cryptorchidism, Aplasia of the uterus, Atrial septal defe... OMIM:135900
Generalized Arterial Calcification Of Infancy
Ventricular hypertrophy, Osteomalacia, Cardiomegaly, Pericardial effusion, Myocardial calcificati... ORPHA:51608
Neu-Laxova Syndrome 1
Ventricular septal defect, Bifid uterus, Cryptorchidism, Transposition of the great arteries, Pat... OMIM:256520
Townes-Brocks Syndrome 1
Bifid scrotum, Rectoperineal fistula, Ventricular septal defect, Hypospadias, Bifid uterus, Crypt... OMIM:107480
Limb-Mammary Syndrome
Aplasia of the uterus, Aplasia of the ovary ORPHA:69085
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Exaggerated startle response OMIM:618367
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Small scrotum, Hypospadias, Cryptorchidism, Decreased calvarial ossification, Anteriorly displace... OMIM:276820
Vascular Ehlers-Danlos Syndrome
Abnormal heart valve morphology, Hypospadias, Cryptorchidism, Cystocele, Osteolysis, Mitral valve... ORPHA:286
Loeys-Dietz Syndrome
Craniosynostosis, Uterine rupture ORPHA:60030
Pallister-Killian Syndrome
Small scrotum, Ventricular septal defect, Hypospadias, Cryptorchidism, Hypoplastic labia majora, ... OMIM:601803
Norrie Disease
Cryptorchidism, Optic atrophy, Uterine rupture ORPHA:649

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 Tmub2

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 Tmub2.

No publications found that use IMPC mice or data for Tmub2.

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
Tmub2tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Tmub2tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Tmub2tm1b(KOMP)Wtsi Reporter-tagged deletion allele (with selection cassette) Mice, Tissue

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