Gene: Ntn4 MGI:1888978

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Gene Summary

Name:
netrin 4
Synonyms:
beta-netrin

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal spleen morphology Ntn4tm1b(KOMP)Wtsi HOM Early adult 0.00
decreased hematocrit Ntn4tm1b(KOMP)Wtsi HOM   Early adult 3.64×10-05
increased total retina thickness Ntn4tm1b(KOMP)Wtsi HOM Early adult 2.40×10-11
abnormal retinal outer nuclear layer morphology Ntn4tm1b(KOMP)Wtsi HOM Early adult 3.64×10-05
thrombocytopenia Ntn4tm1b(KOMP)Wtsi HOM   Early adult 1.47×10-10

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Viewing: all phenotypes

lacZ Expression

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

Anatomy Images Zygosity Mutant Expr
Adrenal gland  Wholemount images heterozygote 100% (2 of 2)
Aorta  Wholemount images heterozygote 50% (1 of 2)
Bone  Wholemount images heterozygote 0.0% (0 of 2)
Brain  Wholemount images heterozygote 100% (2 of 2)
Brown adipose tissue  Wholemount images heterozygote 100% (2 of 2)
Cartilage tissue  Wholemount images heterozygote 100% (2 of 2)
Cerebellum  Wholemount images heterozygote 100% (2 of 2)
Cerebral cortex  Wholemount images heterozygote 100% (2 of 2)
Eye  Wholemount images heterozygote Not available
Gall bladder  Wholemount images heterozygote 100% (2 of 2)
Heart  Wholemount images heterozygote 100% (2 of 2)
Hippocampus  Wholemount images heterozygote 0.0% (0 of 2)
Hypothalamus  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 50% (1 of 2)
Olfactory lobe  Wholemount images heterozygote 100% (2 of 2)
Oral epithelium  Wholemount images heterozygote 0.0% (0 of 2)
Pancreas  Wholemount images heterozygote 100% (2 of 2)
Prostate gland  Wholemount images heterozygote 50% (1 of 2)
Skeletal muscle  Wholemount images heterozygote 0.0% (0 of 2)
Skin  Wholemount images heterozygote 100% (2 of 2)
Spleen  Wholemount images heterozygote 100% (2 of 2)
Striatum  Wholemount images heterozygote 100% (2 of 2)
Testis  Wholemount images heterozygote 50% (1 of 2)
Trachea  Wholemount images heterozygote 100% (2 of 2)
Uterus  Wholemount images heterozygote 0.0% (0 of 2)
Vas deferens  Wholemount images heterozygote Not available
Vascular system  Wholemount images heterozygote 100% (2 of 2)
White adipose tissue  Wholemount images heterozygote 100% (2 of 2)
Brainstem N/A heterozygote 0.0% (0 of 2)
Cecum N/A heterozygote 0.0% (0 of 2)
Esophagus N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lung N/A heterozygote 100% (2 of 2)
Lymph node N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Ovary N/A heterozygote 0.0% (0 of 2)
Oviduct N/A heterozygote 0.0% (0 of 2)
Parathyroid gland N/A heterozygote 0.0% (0 of 2)
Peripheral nervous system N/A heterozygote 100% (2 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Pituitary gland N/A heterozygote 0.0% (0 of 2)
Small intestine N/A heterozygote 0.0% (0 of 2)
Spinal cord N/A heterozygote 0.0% (0 of 2)
Stomach N/A heterozygote 0.0% (0 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 0.0% (0 of 2)
Trigeminal V nerve N/A heterozygote 50% (1 of 2)
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 0.68% (4 of 584)
aorta 0.17% (1 of 584)
bone 0.0%
brain 0.68% (4 of 584)
brainstem 0.34% (2 of 584)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 584)
cecum 2.97% (11 of 370)
cerebellum 0.51% (3 of 584)
cerebral cortex 0.34% (2 of 584)
esophagus 1.72% (7 of 408)
eye 0.0%
gall bladder 0.0%
heart 0.34% (2 of 584)
hippocampus 0.51% (3 of 584)
hypothalamus 0.34% (2 of 584)
kidney 3.6% (21 of 584)
large intestine 1.71% (10 of 584)
liver 0.0%
lower urinary tract 0.17% (1 of 584)
lung 0.34% (2 of 584)
lymph node 0.17% (1 of 584)
mammary gland 0.0%
olfactory lobe 0.34% (2 of 584)
oral epithelium 0.0%
ovary 0.17% (1 of 584)
oviduct 0.0%
pancreas 0.86% (5 of 584)
parathyroid gland 0.18% (1 of 562)
peripheral nervous system 0.34% (2 of 584)
peyers patch 0.0%
pituitary gland 0.17% (1 of 584)
prostate gland 2.05% (12 of 584)
skeletal muscle 0.0%
skin 0.17% (1 of 584)
small intestine 1.54% (9 of 584)
spinal cord 0.51% (3 of 584)
spleen 0.51% (3 of 584)
stomach 2.05% (12 of 584)
striatum 0.51% (3 of 584)
testis 1.03% (6 of 584)
thymus 0.17% (1 of 584)
thyroid gland 2.74% (16 of 584)
trachea 0.51% (3 of 584)
trigeminal v nerve 0.0%
uterus 0.0%
vas deferens 3.67% (14 of 381)
vascular system 0.0%
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.

X-ray

XRay Images Forepaw

10 Images

Eye Morphology

VIP of left fundus

15 Images

Eye Morphology

VIP of right eye

15 Images

Adult LacZ

LacZ Images Wholemount

30 Images

Eye Morphology

VIP of right fundus

15 Images

Eye Morphology

VIP of left eye

15 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

Human diseases caused by Ntn4 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 Ntn4 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Retinal Dysplasia, Primary
Retinal dysplasia, Falciform retinal fold OMIM:312550
Thrombocytopenia 4
Thrombocytopenia OMIM:612004
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Thrombocytopenia, Splenomegaly, Anemia, Abnormal platelet function, Abnormal hemoglobin ORPHA:231393
Cephalin Lipidosis
Abnormality of the spleen OMIM:212800
Thrombocytopenic Purpura, Autoimmune
Thrombocytopenia OMIM:188030
Thrombocytopenia 2
Thrombocytopenia OMIM:188000
Bleeding Disorder, Platelet-Type, 9
Thrombocytopenia OMIM:614200
Thrombocytopenia, Cyclic
Thrombocytopenia, Neutropenia, Cyclic neutropenia OMIM:188020
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Thrombocytopenia, Hepatosplenomegaly, Anemia OMIM:610539
Erythroleukemia, Familial, Susceptibility To
Erythroid hyperplasia, Thrombocytopenia, Acute myeloid leukemia, Hepatomegaly, Anemia, Splenomega... OMIM:133180
Macrothrombocytopenia, Autosomal Dominant, Tubb1-Related
Macrothrombocytopenia OMIM:613112
Sea-Blue Histiocyte Disease
Thrombocytopenia, Cirrhosis, Sea-blue histiocytosis, Splenomegaly OMIM:269600
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia
Thrombocytopenia OMIM:124900
Pancytopenia And Occlusive Vascular Disease
Thrombocytopenia, Leukopenia, Pancytopenia, Anemia OMIM:167850
Amegakaryocytic Thrombocytopenia, Congenital
Thrombocytopenia, Pancytopenia, Amegakaryocytic thrombocytopenia OMIM:604498
Thrombocytopenia 7
Reduced platelet alpha granules, Impaired ADP-induced platelet aggregation, Impaired collagen-ind... OMIM:619130
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Extramedullary hematopoiesis, Neutropenia, Thrombocytopenia, Hepatomegaly, Leukopenia, Splenomega... OMIM:615285
Nephronophthisis
Abnormality of retinal pigmentation, Anemia ORPHA:655
Bleeding Disorder, Platelet-Type, 16
Impaired platelet aggregation, Macrothrombocytopenia, Thrombocytopenia, Giant platelets, Anemia, ... OMIM:187800
Beemer Lethal Malformation Syndrome
Thrombocytopenia OMIM:209970
Bone Marrow Failure Syndrome 2
Thrombocytopenia, Anemia, Bone marrow hypocellularity, Leukopenia OMIM:615715
Eosinophilia, Familial
Leukocytosis, Thrombocytopenia, Eosinophilia, Anemia OMIM:131400
Osteopetrosis, Autosomal Recessive 8
Thrombocytopenia, Hepatomegaly, Anemia, Splenomegaly, Optic atrophy OMIM:615085
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Amegakaryocytic thrombocytopenia ORPHA:71289
Refractory Anemia
Erythroid hypoplasia, Neutropenia, Normocytic anemia, Thrombocytopenia, Normochromic anemia, Anem... ORPHA:98826
Hermansky-Pudlak Syndrome 9
Thrombocytopenia, Ocular albinism, Leukopenia, Hypopigmentation of the fundus OMIM:614171
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Impaired platelet aggregation, Elliptocytosis, Increased hemoglobin, Abnormal erythrocyte morphol... OMIM:300835
Congenital Amegakaryocytic Thrombocytopenia
Thrombocytopenia, Abnormal hemoglobin, Anemia ORPHA:3319
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Thrombocytopenia, Acute myeloid leukemia, Increased mean corpuscular volume OMIM:252270
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Neutropenia, Thrombocytopenia, Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpu... OMIM:619041
Osteopetrosis, Autosomal Recessive 4
Reticulocytosis, Thrombocytopenia, Hepatomegaly, Anemia, Splenomegaly, Optic atrophy, Hepatosplen... OMIM:611490
Malaria
Thrombocytopenia, Retinopathy, Anemia ORPHA:673
Thrombocytopenia, Anemia, And Myelofibrosis
Thrombocytopenia, Anisopoikilocytosis, Anemia, Splenomegaly OMIM:617441
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Thrombocytopenia OMIM:166990
Fanconi Anemia, Complementation Group T
Thrombocytopenia, Bone marrow hypocellularity, Pancytopenia, Anemia OMIM:616435
Bleeding Disorder, Platelet-Type, 15
Thrombocytopenia, Increased mean platelet volume, Platelet anisocytosis OMIM:615193
Spastic Paraplegia And Evans Syndrome
Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia OMIM:601608
Polycythemia Vera
Thrombocytosis, Increased hematocrit, Leukocytosis, Increased hemoglobin, Thrombocytopenia, Incre... OMIM:263300
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Neutropenia, Thrombocytopenia, HbH hemoglobin, Splenomegaly, Acute leukemia ORPHA:231401
Gray Platelet Syndrome
Thrombocytopenia, Abnormal thrombocyte morphology, Splenomegaly ORPHA:721
Acquired Idiopathic Sideroblastic Anemia
Hypochromic anemia, Thrombocytosis, Leukocytosis, Erythroid hyperplasia, Neutropenia, Hyposegment... ORPHA:75564
Platelet Glycoprotein Iv Deficiency
Thrombocytopenia, Giant platelets OMIM:608404
Pseudo-Von Willebrand Disease
Intermittent thrombocytopenia OMIM:177820
Bleeding Disorder, Platelet-Type, 24
Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Inc... OMIM:619271
Platelet Signal Processing Defect
Thrombocytopenia, Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced platele... OMIM:173590
Acute Myelomonocytic Leukemia
Leukocytosis, Thrombocytopenia, Eosinophilia, Anemia ORPHA:517
Bilateral Striopallidodentate Calcinosis
Thrombocytopenia, Abnormality of the liver, Hepatomegaly ORPHA:1980
Dk Phocomelia Syndrome
Thrombocytopenia OMIM:223340
Asplenia, Isolated Congenital
Thrombocytosis, Howell-Jolly bodies, Asplenia OMIM:271400
Exudative Vitreoretinopathy 2, X-Linked
Exudative vitreoretinopathy, Retinal hole, Falciform retinal fold, Subretinal exudate, Peripheral... OMIM:305390
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hemophagocytosis, Neutropenia, Thrombocytopenia, Jaundice, Hepatomegaly, Anemia, Splenomegaly, Ly... OMIM:603552
Erythrocytosis, Familial, 3
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin OMIM:609820
Macrothrombocytopenia and progressive sensorineural deafness
Thrombocytopenia, Giant platelets, Macrothrombocytopenia OMIM:600208
Sebastian syndrome
Thrombocytopenia, Leukocyte inclusion bodies, Neutrophil inclusion bodies, Giant platelets OMIM:605249
Sea-Blue Histiocytosis
Thrombocytopenia, Sea-blue histiocytosis, Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy... ORPHA:158029
Idiopathic Aplastic Anemia
Neutropenia, Reticulocytopenia, Thrombocytopenia, Pancytopenia, Retinal hemorrhage, Anemia, Bone ... ORPHA:88
Central Retinal Vein Occlusion
Pigmentary retinopathy, Cystoid macular edema, Papilledema, Epiretinal membrane, Retinal vascular... ORPHA:411527
Roch-Leri Mesosomatous Lipomatosis
Thrombocytopenia ORPHA:529
Erythrocytosis, Familial, 5
Polycythemia, Increased hematocrit, Increased hemoglobin OMIM:617907
Erythrocytosis, Familial, 6
Polycythemia, Increased hematocrit, Increased hemoglobin OMIM:617980
Fanconi Anemia, Complementation Group G
Thrombocytopenia, Leukemia, Neutropenia, Anemia OMIM:614082
Preeclampsia/Eclampsia 1
Thrombocytopenia OMIM:189800
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Hypochromic anemia, Macrothrombocytopenia, Anisocytosis, Anemia of inadequate production, Poikilo... ORPHA:67044
Wolfram Syndrome, Mitochondrial Form
Megaloblastic anemia, Neutropenia, Thrombocytopenia, Sideroblastic anemia, Optic atrophy OMIM:598500
Giant platelet syndrome with thrombocytopenia
Thrombocytopenia, Giant platelets OMIM:137560
Erythrocytosis, Familial, 7
Polycythemia, Increased hematocrit OMIM:617981
Cernunnos-Xlf Deficiency
T lymphocytopenia, Lymphopenia, Thrombocytopenia, B lymphocytopenia, Anemia ORPHA:169079
Chronic Myeloid Leukemia
Thrombocytosis, Abnormal basophil morphology, Leukocytosis, Abnormal granulocyte morphology, Thro... ORPHA:521
Fetal Parvovirus Syndrome
Thrombocytopenia, Anemia ORPHA:295
Vitreoretinopathy, Neovascular Inflammatory
Peripheral retinal neovascularization, Large hyperpigmented retinal spots, Vitreoretinopathy, Ret... OMIM:193235
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hemophagocytosis, Thrombocytopenia, Anemia, Splenomegaly, Hepatosplenomegaly, Lymphadenopathy OMIM:613101
Erythrocytosis, Familial, 4
Polycythemia, Increased hematocrit, Increased hemoglobin OMIM:611783
Specific Granule Deficiency 2
Thrombocytopenia, Absent neutrophil specific granules, Neutropenia, Anemia OMIM:617475
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231242
Congenital Toxoplasmosis
Abnormality of retinal pigmentation, Thrombocytopenia, Jaundice, Hepatomegaly, Anemia, Lymphadeno... ORPHA:858
Hypobetalipoproteinemia, Familial, 1
Rod-cone dystrophy, Retinal degeneration, Acanthocytosis OMIM:615558
Thrombocytopenia With Beta-Thalassemia, X-Linked
Reticulocytosis, Thrombocytopenia, Hemolytic anemia, Splenomegaly OMIM:314050
Atypical Hemolytic Uremic Syndrome
Thrombocytopenia, Microangiopathic hemolytic anemia ORPHA:2134
Exudative Vitreoretinopathy 1
Exudative vitreoretinopathy, Falciform retinal fold, Vitreous hemorrhage, Retinal exudate, Poster... OMIM:133780
Thrombocytopenia 5
Thrombocytopenia, Neutropenia, Anemia OMIM:616216
Bleeding Disorder, Platelet-Type, 20
Thrombocytopenia OMIM:616913
Von Willebrand Disease, Type 2
Thrombocytopenia OMIM:613554
Wiskott-Aldrich Syndrome 2
Thrombocytopenia, Decreased proportion of CD8-positive T cells OMIM:614493
Ataxia-Pancytopenia Syndrome
Acute myelomonocytic leukemia, Neutropenia, Pancytopenia, Thrombocytopenia, Hypoplastic anemia, A... OMIM:159550
Aicardi-Goutieres Syndrome 3
Thrombocytopenia, Hepatosplenomegaly OMIM:610329
Bleeding Disorder, Platelet-Type, 19
Anemia, Macrothrombocytopenia OMIM:616176
Thiamine-Responsive Megaloblastic Anemia Syndrome
Thiamine-responsive megaloblastic anemia, Retinal degeneration, Sideroblastic anemia, Cone/cone-r... OMIM:249270
Fanconi Anemia, Complementation Group V
Thrombocytopenia, Bone marrow hypocellularity, Neutropenia, Anemia OMIM:617243
Nephrotic Syndrome, Type 7
Thrombocytopenia, Hemolytic anemia OMIM:615008
Thrombocythemia 1
Thrombocytosis, Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced platelet ... OMIM:187950
Erythrocytosis, Familial, 1
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin, Splenomegaly OMIM:133100
Thiamine-Responsive Megaloblastic Anemia Syndrome
Megaloblastic anemia, Thrombocytopenia, Optic atrophy, Retinal dystrophy ORPHA:49827
Beta-Thalassemia
Microcytic anemia, Cholelithiasis, Thrombocytopenia, Hepatomegaly, Hepatitis, Anemia, Splenomegal... ORPHA:848
Forsythe-Wakeling Syndrome
Thrombocytopenia OMIM:613606
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Neutropenia, Thrombocytopenia, Hepatomegaly, Splenomegaly, Pancreatitis, Anemia, Optic atrophy ORPHA:79312
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia
Acanthocytosis, Congenital thrombocytopenia, Poikilocytosis, Anemia of inadequate production OMIM:300367
Vitamin B12-Unresponsive Methylmalonic Acidemia
Thrombocytopenia, Hepatomegaly, Pancreatitis, Anemia, Leukopenia, Optic atrophy, Macrocytic anemia ORPHA:27
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Neutropenia, Thrombocytopenia, Hepatomegaly, Pancreatitis, Anemia, Optic atrophy ORPHA:289916
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Thrombocytopenia, Leukocyte inclusion bodies, Neutrophil inclusion bodies, Giant platelets OMIM:155100
Hemangioma-Thrombocytopenia Syndrome
Thrombocytopenia, Microangiopathic hemolytic anemia OMIM:141000
Moyamoya Disease With Early-Onset Achalasia
Thrombocytopenia, Abnormal platelet aggregation ORPHA:401945
Deafness-Lymphedema-Leukemia Syndrome
Myeloproliferative disorder, Leukocytosis, Thrombocytopenia, Hepatomegaly, Abnormality of the opt... ORPHA:3226
Dyskeratosis Congenita, Autosomal Recessive 2
Thrombocytopenia, Cirrhosis, Bone marrow hypocellularity, Pancytopenia OMIM:613987
Congenital Rubella Syndrome
Abnormality of retinal pigmentation, Thrombocytopenia, Jaundice, Hepatomegaly, Anemia, Splenomegaly ORPHA:290
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Thrombocytopenia OMIM:314000
Omenn Syndrome
Severe B lymphocytopenia, Thrombocytopenia, Hypoplasia of the thymus, Hepatomegaly, Eosinophilia,... OMIM:603554
Bone Marrow Failure Syndrome 4
Thrombocytopenia, Anemia, Bone marrow hypocellularity, Leukopenia OMIM:618116
Ghosal Hematodiaphyseal Dysplasia
Thrombocytopenia, Leukopenia, Bone marrow hypocellularity, Refractory anemia OMIM:231095
Primary Myelofibrosis
Poikilocytosis, Thrombocytosis, Leukocytosis, Extramedullary hematopoiesis, Pancytopenia, Thrombo... ORPHA:824
Osteopetrosis With Renal Tubular Acidosis
Thrombocytopenia, Hepatomegaly, Anemia, Splenomegaly, Optic atrophy ORPHA:2785
Phosphoglycerate Dehydrogenase Deficiency
Megaloblastic anemia, Thrombocytopenia OMIM:601815
Lymphoproliferative Syndrome 1
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Decreased proportion of CD4-positive he... OMIM:613011
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Thrombocytopenia, Congenital thrombocytopenia, Neutropenia, Anemia OMIM:616738
Aicardi-Goutieres Syndrome 4
Pancytopenia, Thrombocytopenia, Hepatomegaly, Splenomegaly, Hepatosplenomegaly OMIM:610333
Gaucher Disease, Type I
Macular atrophy, Pancytopenia, Thrombocytopenia, Hepatomegaly, Splenomegaly, Hypersplenism, Anemia OMIM:230800
Pontocerebellar Hypoplasia, Type 15
Thrombocytopenia, Chronic neutropenia, Anemia OMIM:619302
Transaldolase Deficiency
Thrombocytopenia, Cirrhosis, Hepatosplenomegaly, Anemia ORPHA:101028
Transcobalamin Deficiency
Thrombocytopenia, Lymphopenia, Pancytopenia, Neutropenia ORPHA:859
Proteasome-Associated Autoinflammatory Syndrome 2
Thrombocytopenia, Lymphadenopathy OMIM:618048
Osteopetrosis, Autosomal Recessive 2
Extramedullary hematopoiesis, Pancytopenia, Thrombocytopenia, Anemia, Optic atrophy, Hepatospleno... OMIM:259710
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Megaloblastic anemia, Thrombocytopenia, Jaundice, Pancytopenia, Hepatomegaly OMIM:613839
Wt Limb-Blood Syndrome
Thrombocytopenia, Hypoplastic anemia, Pancytopenia, Leukemia OMIM:194350
Autoimmune Lymphoproliferative Syndrome, Type Iia
Iron deficiency anemia, Coombs-positive hemolytic anemia, Elevated proportion of CD4-negative, CD... OMIM:603909
Leishmaniasis
Abnormal macrophage morphology, Pancytopenia, Thrombocytopenia, Hepatomegaly, Splenomegaly, Anemi... ORPHA:507
Lymphoproliferative Syndrome, X-Linked, 1
Lymphocytosis, Hemophagocytosis, Neutropenia, Pancytopenia, Thrombocytopenia, Hepatomegaly, Fulmi... OMIM:308240
Retinal Venous Beading
Retinal neovascularization, Retinal infarction, Vitreous hemorrhage, Abnormal distribution of ret... OMIM:180080
Immunodeficiency 46
Intermittent thrombocytopenia, Neutropenia, Anemia OMIM:616740
Gaucher Disease, Type Iii
Pancytopenia, Thrombocytopenia, Splenomegaly, Hepatomegaly OMIM:231000
Babesiosis
Hemolytic anemia, Thrombocytopenia, Jaundice, Hepatomegaly, Leukopenia, Splenomegaly ORPHA:108
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Thrombocytopenia, Lymphocytosis, Decreased mean platelet volume, Lymphadenopathy OMIM:617718
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, Intermittent thrombocytopenia, Neutropenia, B lymphocytopenia, Splenomega... OMIM:150550
Non-Involuting Congenital Hemangioma
Thrombocytopenia, Hepatic hemangioma ORPHA:141179
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Thrombocytopenia, Sideroblastic anemia OMIM:617021
Gaucher Disease, Type Ii
Thrombocytopenia, Splenomegaly, Anemia, Hepatomegaly OMIM:230900
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome
Abnormality of the hepatic vasculature, Nodular regenerative hyperplasia of liver, Thrombocytopen... ORPHA:210136
+173470 integrin, beta-3
Post-transfusion thrombocytopenia, Decreased platelet glycoprotein IIb-IIIa, Impaired platelet ag... OMIM:173470
Refractory Anemia With Excess Blasts
Leukocytosis, Thrombocytopenia, Acute myeloid leukemia, Retinal hemorrhage, Anemia of inadequate ... ORPHA:86839
Gamma-Heavy Chain Disease
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Abnormal lymphocyte morphology, Thrombo... ORPHA:100026
Stt3B-Cdg
Thrombocytopenia, Optic atrophy ORPHA:370924
Autoinflammatory Syndrome, Familial, Behcet-Like
Thrombocytopenia, Lymphopenia, Hemolytic anemia OMIM:616744
Platelet Disorder, Familial, With Associated Myeloid Malignancy
Impaired platelet aggregation, Acute monocytic leukemia, Abnormal alpha granule content, Abnormal... OMIM:601399
Isolated Agammaglobulinemia
Abnormality of neutrophils, Abnormal lymphocyte morphology, Thrombocytopenia, Anemia, Abnormality... ORPHA:229717
Fechtner syndrome
Thrombocytopenia, Leukocyte inclusion bodies, Neutrophil inclusion bodies, Giant platelets OMIM:153640
Amed Syndrome, Digenic
Thrombocytopenia, Acute myeloid leukemia, Anemia, Leukopenia, Bone marrow hypocellularity OMIM:619151
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Decreased mean corpuscular hemoglobin concentration, Stomatocytosis, Reticulocy... ORPHA:3203
Pontocerebellar Hypoplasia, Type 14
Thrombocytopenia, Chronic neutropenia OMIM:619301
Slc35A1-Cdg
Thrombocytopenia, Giant platelets, Neutropenia, Abnormal platelet granules ORPHA:238459
Bernard-Soulier Syndrome
Thrombocytopenia, Impaired ristocetin-induced platelet aggregation, Giant platelets OMIM:231200
Lysosomal Acid Lipase Deficiency
Bone-marrow foam cells, Cirrhosis, Vacuolated lymphocytes, Increased hepatic echogenicity, Hepati... OMIM:278000
Platelet Disorder, Undefined
Thrombocytopenia, Impaired platelet aggregation OMIM:173420
Hermansky-Pudlak Syndrome 5
Thrombocytopenia, Hypoplasia of the fovea, Ocular albinism OMIM:614074
Rapidly Involuting Congenital Hemangioma
Thrombocytopenia, Hepatic hemangioma ORPHA:141184
Isovaleric Acidemia
Thrombocytopenia, Bone marrow hypocellularity, Pancytopenia, Leukopenia OMIM:243500
Rhabdoid Tumor
Thrombocytopenia, Neoplasm of the liver, Anemia, Lymphadenopathy ORPHA:69077
Thyrocerebrorenal Syndrome
Thrombocytopenia ORPHA:3327
Immunodeficiency 10
Autoimmune hemolytic anemia, Thrombocytopenia, Lymphadenopathy OMIM:612783
Diffuse Neonatal Hemangiomatosis
Thrombocytopenia, Anemia, Hepatomegaly ORPHA:2123
Combined Oxidative Phosphorylation Deficiency 14
Thrombocytopenia, Anemia OMIM:614946
Aicardi-Goutieres Syndrome 7
Thrombocytopenia, Splenomegaly, Hepatomegaly OMIM:615846
Sickle Cell Anemia
Iron deficiency anemia, Hypochromic anemia, Thrombocytosis, Hemolytic anemia, Chronic hemolytic a... ORPHA:232
Sengers Syndrome
Thrombocytopenia OMIM:212350
Gray Platelet Syndrome
Abnormal number of alpha granules, Impaired thrombin-induced platelet aggregation, Impaired colla... OMIM:139090
Wolfram Syndrome 1
Pigmentary retinopathy, Megaloblastic anemia, Sideroblastic anemia, Thrombocytopenia, Optic atrophy OMIM:222300
Thrombotic Thrombocytopenic Purpura
Reticulocytosis, Microangiopathic hemolytic anemia, Thrombocytopenia ORPHA:54057
Osteopetrosis, Autosomal Recessive 5
Extramedullary hematopoiesis, Pancytopenia, Thrombocytopenia, Hepatomegaly, Anemia, Splenomegaly,... OMIM:259720
Aregenerative Anemia
Erythroid hypoplasia, Decreased proportion of CD4-positive helper T cells, Neutropenia, Reticuloc... ORPHA:101096
Vitreoretinochoroidopathy
Retinal arteriolar occlusion, Pigmentary retinopathy, Abnormality of chorioretinal pigmentation, ... OMIM:193220
Folate Malabsorption, Hereditary
Thrombocytopenia, Folate-responsive megaloblastic anemia, Neutropenia, Leukopenia OMIM:229050
3-Methylglutaconic Aciduria Type 4
Thrombocytopenia ORPHA:67048
Aggressive Systemic Mastocytosis
Increased proportion of CD25+ mast cells, Leukocytosis, Neutropenia, Pancytopenia, Thrombocytopen... ORPHA:98850
Autoinflammation With Infantile Enterocolitis
Pancytopenia, Reduced natural killer cell count, Thrombocytopenia, Anemia, Splenomegaly OMIM:616050
Congenital Disorder Of Glycosylation, Type Iik
Thrombocytopenia, Hepatomegaly OMIM:614727
Chediak-Higashi Syndrome
Hemophagocytosis, Abnormal dense granules, Impaired neutrophil bactericidal activity, Neutropenia... OMIM:214500
Stormorken Syndrome
Thrombocytopenia, Asplenia, Howell-Jolly bodies, Anemia OMIM:185070
Bleeding Disorder, Platelet-Type, 21
Thrombocytopenia, Impaired platelet aggregation OMIM:617443
Thrombocytopenia, Paris-Trousseau Type
Thrombocytopenia OMIM:188025
Tularemia
Abnormal nasopharyngeal adenoid morphology, Leukocytosis, Lymphadenopathy, Thrombocytopenia, Anem... ORPHA:3392
Letterer-Siwe Disease
Neutropenia, Thrombocytopenia, Jaundice, Anemia, Hepatosplenomegaly OMIM:246400
Congenital Disorder Of Glycosylation, Type Ix
Thrombocytopenia, Optic atrophy OMIM:615597
Thrombocytopenia 3
Thrombocytopenia, Decreased mean platelet volume OMIM:273900
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Neutropenia, Lymphadenopathy, Thro... OMIM:304790
Fetal Gaucher Disease
Pancytopenia, Thrombocytopenia, Hepatomegaly, Splenomegaly, Abnormality of the spleen ORPHA:85212
Quebec Platelet Disorder
Thrombocytopenia, Impaired epinephrine-induced platelet aggregation OMIM:601709
Thyrocerebroretinal Syndrome
Thrombocytopenia OMIM:274240
Neonatal Lupus Erythematosus
Hemolytic anemia, Neutropenia, Pancytopenia, Thrombocytopenia, Hepatomegaly, Aplastic anemia, Ane... ORPHA:398124
Erythrocytosis, Familial, 2
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin OMIM:263400
Immunodeficiency, Common Variable, 12, With Autoimmunity
Autoimmune hemolytic anemia, Thrombocytopenia OMIM:616576
Griscelli Syndrome
Abnormality of neutrophils, Thrombocytopenia, Jaundice, Hepatomegaly, Hepatitis, Leukopenia, Sple... ORPHA:381
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Thrombocytopenia OMIM:254900
Systemic Lupus Erythematosus
Thrombocytopenia, Hemolytic anemia, Leukopenia OMIM:152700
Immunodeficiency With Hyper-Igm, Type 1
Cirrhosis, Hemolytic anemia, Sclerosing cholangitis, Neutropenia, Enlarged tonsils, Thrombocytope... OMIM:308230
Preeclampsia
Thrombocytopenia, Abnormality of the hepatic vasculature ORPHA:275555
Zika Virus Disease
Macular atrophy, Absent foveal reflex, Optic disc hypoplasia, Chorioretinal atrophy, Retinal pigm... ORPHA:448237
Transaldolase Deficiency
Micronodular cirrhosis, Cirrhosis, Pancytopenia, Thrombocytopenia, Hepatic fibrosis, Hepatomegaly... OMIM:606003
Wilson Disease
Acute hepatitis, Cirrhosis, Hepatic steatosis, Thrombocytopenia, Jaundice, Hepatomegaly, Hepatiti... ORPHA:905
Osteopetrosis, Autosomal Recessive 1
Pancytopenia, Thrombocytopenia, Hepatomegaly, Anemia, Splenomegaly, Optic atrophy OMIM:259700
Myh9-Related Disease
Congenital thrombocytopenia, Giant platelets, Increased mean platelet volume, Neutrophil inclusio... ORPHA:182050
Tufted Angioma
Thrombocytopenia, Anemia ORPHA:1063
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Lymphadenitis, Autoimmune hemolytic anemia, Decreased proportion of CD3-positive T cells, Lymphop... ORPHA:331206
Good Syndrome
Aplasia/Hypoplasia of the thymus, Thrombocytopenia, Mediastinal lymphadenopathy, Anemia, Thymoma,... ORPHA:169105
Mevalonic Aciduria
Fluctuating hepatomegaly, Leukocytosis, Attenuation of retinal blood vessels, Thrombocytopenia, O... OMIM:610377
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Erythroid hypoplasia, Monocytosis, Lymphopenia, Neutropenia, Hypoplasia of the thymus, Thrombocyt... OMIM:612541
Congenital Disorder Of Glycosylation, Type Iif
Thrombocytopenia, Decreased platelet glycoprotein Ib, Neutropenia, Macrothrombocytopenia OMIM:603585
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Thrombocytopenia, Microangiopathic hemolytic anemia, Anemia OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Thrombocytopenia, Microangiopathic hemolytic anemia, Anemia OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Thrombocytopenia, Microangiopathic hemolytic anemia, Anemia OMIM:612925
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Thrombocytopenia, Microangiopathic hemolytic anemia, Anemia OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Thrombocytopenia, Microangiopathic hemolytic anemia, Anemia OMIM:612926
Noonan Syndrome 12
Thrombocytopenia, Lymphopenia OMIM:618624
Cyclic Neutropenia
Peritonitis, Recurrent tonsillitis, Decreased eosinophil count, Lymphopenia, Lymphadenopathy, Thr... ORPHA:2686
Felty Syndrome
Abnormal lymphocyte morphology, Neutropenia, Thrombocytopenia, Hepatomegaly, Anemia, Splenomegaly... ORPHA:47612
Aicardi-Goutieres Syndrome 5
Thrombocytopenia OMIM:612952
Congenital Disorder Of Glycosylation, Type Ih
Thrombocytopenia, Hepatomegaly, Anemia, Cholestasis OMIM:608104
Immune Thrombocytopenia
Thrombocytopenia ORPHA:3002
Combined Immunodeficiency Due To Crac Channel Dysfunction
Hemolytic anemia, Thrombocytopenia, Hepatomegaly, Splenomegaly, Lymphadenopathy ORPHA:169090
X-Linked Agammaglobulinemia
Neutropenia, Thrombocytopenia, Hepatitis, Anemia, Abnormality of the lymphatic system, Abnormalit... ORPHA:47
Systemic Mastocytosis With Associated Hematologic Neoplasm
Myeloid leukemia, Leukocytosis, Chronic lymphatic leukemia, Lymphadenopathy, Thrombocytopenia, Ab... ORPHA:98849
Pelger-Huet Anomaly
Abnormality of neutrophils, Hyposegmentation of neutrophil nuclei, Neutropenia, Thrombocytopenia,... OMIM:169400
Dyskeratosis Congenita, Autosomal Dominant 3
Pancytopenia, Thrombocytopenia, Aplastic anemia, Leukopenia, Retinopathy, Bone marrow hypocellula... OMIM:613990
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Micronodular cirrhosis, Depletion of mitochondrial DNA in liver, Hepatocellular necrosis, Hepatic... OMIM:251880
Hermansky-Pudlak Syndrome 2
Impaired ADP-induced platelet aggregation, Neutropenia, Ocular albinism, Thrombocytopenia, Hepato... OMIM:608233
Marburg Hemorrhagic Fever
Thrombocytopenia, Jaundice, Leukopenia, Pancreatitis ORPHA:99826
Boutonneuse Fever
Cervical lymphadenopathy, Thrombocytopenia, Leukopenia, Lymphadenopathy ORPHA:83313
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
T lymphocytopenia, Decreased proportion of memory B cells, Abnormal natural killer cell count, Pa... ORPHA:79124
Ebola Hemorrhagic Fever
Thrombocytopenia, Leukopenia ORPHA:319218
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Thrombocytopenia, Neutropenia, Anemia OMIM:614857
Gaucher Disease Type 1
Cirrhosis, Biliary tract obstruction, Pancytopenia, Thrombocytopenia, Hepatomegaly, Splenomegaly,... ORPHA:77259
Congenital Disorder Of Glycosylation, Type Iil
Cirrhosis, Cholestasis, Pancytopenia, Thrombocytopenia, Hepatomegaly, Splenomegaly, Optic atrophy OMIM:614576
Pseudo-Torch Syndrome 3
Lymphadenitis, Congenital thrombocytopenia, Anemia, Leukocytosis OMIM:618886
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Thrombocytopenia, Normochromic anemia, Papilledema, Cholelithiasis OMIM:618775
Mucopolysaccharidosis-Plus Syndrome
Macrovesicular hepatic steatosis, Chorioretinal hypopigmentation, Neutropenia, Thrombocytopenia, ... OMIM:617303
Tempi Syndrome
Polycythemia, Increased hematocrit ORPHA:284227
Maternal Uniparental Disomy Of Chromosome 6
Thrombocytopenia, Rod-cone dystrophy ORPHA:96181
Bleeding Disorder, Platelet-Type, 17
Thrombocytopenia, Abnormal thrombocyte morphology, Absence of alpha granules OMIM:187900
Prolidase Deficiency
Thrombocytopenia, Prolonged neonatal jaundice, Hepatomegaly, Anemia, Splenomegaly OMIM:170100
Thrombotic Thrombocytopenic Purpura, Hereditary
Microangiopathic hemolytic anemia, Reticulocytosis, Thrombocytopenia, Jaundice, Prolonged neonata... OMIM:274150
Dyskeratosis Congenita, Autosomal Dominant 2
Pancytopenia, Thrombocytopenia, Aplastic anemia, Leukopenia, Bone marrow hypocellularity OMIM:613989
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency
Thrombocytopenia, Bone marrow hypocellularity, Neutropenia, Anemia OMIM:614520
Lig4 Syndrome
Thrombocytopenia, Pancytopenia OMIM:606593
Epilepsy, Hearing Loss, And Mental Retardation Syndrome
Thrombocytopenia OMIM:616577
Kaposiform Lymphangiomatosis
Pancreatic cysts, Abnormal lymphatic vessel morphology, Abnormal spleen morphology, Thrombocytope... ORPHA:464329
Congenital Disorder Of Glycosylation, Type Iig
Thrombocytopenia, Anemia OMIM:611209
Proteasome-Associated Autoinflammatory Syndrome 3
Lymphopenia, Thrombocytopenia, Hepatomegaly, Anemia, Splenomegaly, Lymphadenopathy OMIM:617591
Acute Promyelocytic Leukemia
Leukocytosis, Neutropenia, Pancytopenia, Thrombocytopenia, Anemia, Leukopenia, Lymphadenopathy ORPHA:520
Familial Hemophagocytic Lymphohistiocytosis
Hemophagocytosis, Neutropenia, Thrombocytopenia, Jaundice, Hepatomegaly, Cholestatic liver diseas... ORPHA:540
Immunodeficiency, Common Variable, 8, With Autoimmunity
Decreased proportion of class-switched memory B cells, Autoimmune thrombocytopenia, Autoimmune he... OMIM:614700
Congenital Enterovirus Infection
Leukocytosis, Abnormal macrophage morphology, Neutropenia, Cholestasis, Thrombocytopenia, Hepatit... ORPHA:292
Crimean-Congo Hemorrhagic Fever
Thrombocytopenia, Jaundice, Hepatic steatosis, Leukopenia ORPHA:99827
Propionic Acidemia
Neutropenia, Pancytopenia, Thrombocytopenia, Hepatomegaly, Anemia, Pancreatitis OMIM:606054
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Thrombocytopenia, Increased mean platelet volume OMIM:300048
Cog4-Cdg
Thrombocytopenia, Cirrhosis, Hepatosplenomegaly ORPHA:263501
Von Willebrand Disease, Type 3
Thrombocytopenia, Impaired platelet aggregation OMIM:277480
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1
Congenital thrombocytopenia, Aplastic anemia, Amegakaryocytic thrombocytopenia OMIM:605432
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Thrombocytopenia, Pancreatitis, Leukopenia, Hepatomegaly OMIM:251000
Methylmalonic Aciduria, Cblb Type
Neutropenia, Pancytopenia, Thrombocytopenia, Hepatomegaly, Anemia OMIM:251110
Hereditary Folate Malabsorption
Pancytopenia, Thrombocytopenia, Eosinophilia, Megaloblastic anemia ORPHA:90045
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Thrombocytopenia, Leukocytosis ORPHA:83601
Pseudo-Torch Syndrome 1
Thrombocytopenia, Jaundice, Hepatomegaly, Splenomegaly OMIM:251290
Thrombocytopenia 6
Thrombocytopenia OMIM:616937
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hemophagocytosis, Pancytopenia, Jaundice, Thrombocytopenia, Hepatomegaly, Splenomegaly, Anemia, L... OMIM:603553
Blue Rubber Bleb Nevus
Iron deficiency anemia, Thrombocytopenia, Abnormality of the liver OMIM:112200
Relapsing Fever
Leukocytosis, Thrombocytopenia, Jaundice, Anemia, Leukopenia, Neutrophilia ORPHA:91547
Castleman Disease
Generalized lymphadenopathy, Follicular hyperplasia, Thrombocytopenia, Jaundice, Anemia, Mediasti... ORPHA:160
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Thrombocytopenia, Anemia, Leukopenia OMIM:613845
Drug-Induced Lupus Erythematosus
Thrombocytopenia, Anemia ORPHA:231111
Methylmalonic Aciduria, Cbla Type
Neutropenia, Pancytopenia, Thrombocytopenia, Hepatomegaly, Anemia OMIM:251100
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hemophagocytosis, Thrombocytopenia, Jaundice, Hepatomegaly, Splenomegaly, Anemia, Leukopenia, Lym... OMIM:267700
Caroli Syndrome
Cirrhosis, Leukocytosis, Intrahepatic cholestasis, Thrombocytopenia, Jaundice, Cholangitis, Hepat... ORPHA:480520
Chédiak-Higashi Syndrome
Increased proportion of CD25+ mast cells, Hemophagocytosis, Abnormality of retinal pigmentation, ... ORPHA:167
Thrombocytopenia 1
Decreased mean platelet volume, Intermittent thrombocytopenia, Congenital thrombocytopenia OMIM:313900
Farber Disease
Cherry red spot of the macula, Intrahepatic cholestasis with episodic jaundice, Thrombocytopenia,... ORPHA:333
Dengue Fever
Thrombocytopenia, Leukopenia, Hepatomegaly ORPHA:99828
Dyskeratosis Congenita, Autosomal Dominant 1
Cirrhosis, Lymphopenia, Thrombocytopenia, Aplastic anemia, Anemia, Bone marrow hypocellularity OMIM:127550
Aicardi-Goutieres Syndrome 1
Thrombocytopenia, Hepatomegaly, Prolonged neonatal jaundice, Splenomegaly, Hepatosplenomegaly OMIM:225750
Schimke Immunoosseous Dysplasia
Lymphopenia, Neutropenia, Thrombocytopenia, Abnormal T cell morphology, Anemia OMIM:242900
Shwachman-Diamond Syndrome 1
Exocrine pancreatic insufficiency, Persistence of hemoglobin F, Neutropenia, Pancytopenia, Thromb... OMIM:260400
Lassa Fever
Thrombocytopenia, Leukopenia, Lymphadenopathy ORPHA:99824
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Reticulocytosis, Microangiopathic hemolytic anemia, Thrombocytopenia, Schistocytosis OMIM:235400
Beemer-Ertbruggen Syndrome
Thrombocytopenia ORPHA:1237
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Thrombocytopenia, Hypochromic microcytic anemia ORPHA:3240
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Pancytopenia, Thrombocytopenia, Neutropenia, Megaloblastic anemia OMIM:277380
Pseudo-Torch Syndrome 2
Thrombocytopenia, Hepatomegaly OMIM:617397
Hoyeraal-Hreidarsson Syndrome
Thrombocytopenia, Abnormal leukocyte morphology, Bone marrow hypocellularity, Anemia ORPHA:3322
Mitochondrial Complex I Deficiency, Nuclear Type 20
Thrombocytopenia, Microvesicular hepatic steatosis OMIM:611126
Tangier Disease
Orange discolored tonsils, Chronic noninfectious lymphadenopathy, Thrombocytopenia, Anemia, Hepat... ORPHA:31150
Shwachman-Diamond Syndrome
Exocrine pancreatic insufficiency, Chronic neutropenia, Neutropenia, Impaired neutrophil chemotax... ORPHA:811
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Lymphopenia, Neutropenia, Reticulocytopenia, Thrombocytopenia, B lymphocytopenia, Anemia, Leukope... ORPHA:508542
Diffuse Alveolar Hemorrhage
Thrombocytopenia, Anemia, Leukocytosis ORPHA:90060
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Thrombocytopenia, Bone marrow hypocellularity, Retinal telangiectasia, Anemia, Optic atrophy, Exu... OMIM:612199
Shwachman-Diamond Syndrome 2
Exocrine pancreatic insufficiency, Hyperechogenic pancreas, Neutropenia, Normocytic anemia, Throm... OMIM:617941
Kasabach-Merritt Syndrome
Microangiopathic hemolytic anemia, Reticulocytosis, Abnormal lymphatic vessel morphology, Neutrop... ORPHA:2330
Holocarboxylase Synthetase Deficiency
Thrombocytopenia ORPHA:79242
Immunodeficiency 59 And Hypoglycemia
Hypochromic anemia, Leukocytosis, Thrombocytopenia, Hepatomegaly, Granulocytopenia OMIM:233600
Schimke Immuno-Osseous Dysplasia
Abnormal proportion of naive CD4 T cells, Lymphopenia, Decreased proportion of naive CD8 T cells,... ORPHA:1830
Pediatric-Onset Graves Disease
Neutropenia in presence of anti-neutropil antibodies, Thrombocytopenia, Jaundice, Hepatomegaly, S... ORPHA:525731
Mirage Syndrome
Lymphopenia, Thrombocytopenia, Anemia, Leukopenia, Hypoplastic spleen OMIM:617053
Pediatric Systemic Lupus Erythematosus
Microangiopathic hemolytic anemia, Lymphopenia, Thrombocytopenia, Leukopenia, Lymphadenopathy ORPHA:93552
Fanconi Anemia, Complementation Group E
Neutropenia, Reticulocytopenia, Pancytopenia, Thrombocytopenia, Anemia, Leukemia OMIM:600901
Fanconi Anemia, Complementation Group B
Thrombocytopenia, Optic disc hypoplasia, Aplastic anemia OMIM:300514
Vexas Syndrome
Thrombocytopenia, Macrocytic anemia OMIM:301054
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Thrombocytopenia, Neutropenia, Pigmentary retinopathy, Megaloblastic anemia OMIM:277400
Catastrophic Antiphospholipid Syndrome
Thrombocytopenia, Microangiopathic hemolytic anemia, Retinal arterial occlusion, Coombs-positive ... ORPHA:464343
Fanconi Anemia, Complementation Group A
Neutropenia, Reticulocytopenia, Pancytopenia, Thrombocytopenia, Anemia, Leukemia OMIM:227650
Necrotizing Enterocolitis
Peritonitis, Thrombocytopenia, Neutropenia, Leukocytosis ORPHA:391673
Gaucher Disease, Perinatal Lethal
Thrombocytopenia, Hepatomegaly, Anemia, Splenomegaly, Hepatosplenomegaly OMIM:608013
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Thrombocytopenia, Optic nerve hypoplasia, Leukopenia, Hepatomegaly OMIM:301056
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Pigmentary retinopathy, Megaloblastic anemia, Neutropenia, Retinal degeneration, Thrombocytopenia... ORPHA:79282
Smith-Kingsmore Syndrome
Thrombocytopenia OMIM:616638
16Q24.3 Microdeletion Syndrome
Thrombocytopenia, Optic nerve hypoplasia, Increased mean corpuscular volume ORPHA:261250
Snakebite Envenomation
Thrombocytopenia ORPHA:449285
Fanconi Anemia, Complementation Group C
Neutropenia, Reticulocytopenia, Pancytopenia, Thrombocytopenia, Anemia, Leukemia, Bone marrow hyp... OMIM:227645
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Abnormality of retinal pigmentation, Thrombocytopenia, Anemia, Leukopenia, Optic atrophy, Hepatos... ORPHA:505248
Sepsis In Premature Infants
Leukocytosis, Neutropenia, Thrombocytopenia, Jaundice, Hepatomegaly, Anemia, Splenomegaly ORPHA:90051
Blackfan-Diamond Anemia
Elevated red cell adenosine deaminase level, Erythroid hypoplasia, Pure red cell aplasia, Thrombo... ORPHA:124
Pearson Syndrome
Exocrine pancreatic insufficiency, Pigmentary retinopathy, Reticulocytosis, Hepatic steatosis, Ma... ORPHA:699
Acquired Purpura Fulminans
Thrombocytopenia ORPHA:49566
Q Fever
Thrombocytopenia, Hepatomegaly, Hepatitis, Splenomegaly, Anemia, Cholecystitis, Hepatosplenomegal... ORPHA:781
Dyskeratosis Congenita, Autosomal Recessive 1
Thrombocytopenia, Bone marrow hypocellularity, Aplastic anemia, Hepatic fibrosis OMIM:224230
Adams-Oliver Syndrome
Cirrhosis, Thrombocytopenia, Congenital hepatic fibrosis, Leukopenia, Portal hypertension ORPHA:974
Wiskott-Aldrich Syndrome, Autosomal Dominant
Iron deficiency anemia, Decreased mean platelet volume, Hemolytic anemia, Lymphopenia, Thrombocyt... OMIM:600903
Idiopathic Hypereosinophilic Syndrome
Thrombocytosis, Leukocytosis, Generalized lymphadenopathy, Thrombocytopenia, Chronic hepatitis, C... ORPHA:3260
Wars2-Related Combined Oxidative Phosphorylation Defect
Thrombocytopenia, Rod-cone dystrophy ORPHA:572798
Takenouchi-Kosaki Syndrome
Thrombocytopenia, Optic atrophy, Increased mean platelet volume OMIM:616737
Fanconi Anemia, Complementation Group F
Thrombocytopenia, Anemia, Bone marrow hypocellularity, Leukopenia OMIM:603467
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Peritonitis, Microangiopathic hemolytic anemia, Reticulocytosis, Leukocytosis, Thrombocytopenia, ... ORPHA:90038
Cleft Palate, Proliferative Retinopathy, And Developmental Delay
Retinal neovascularization OMIM:619074
Shigellosis
Peritonitis, Microangiopathic hemolytic anemia, Splenic abscess, Leukocytosis, Cholestasis, Throm... ORPHA:810
Hellp Syndrome
Thrombocytopenia, Microangiopathic hemolytic anemia, Hemolytic anemia, Decreased mean corpuscular... ORPHA:244242
Avian Influenza
Thrombocytopenia, Lymphopenia, Leukopenia, Hepatitis ORPHA:454836
Lysinuric Protein Intolerance
Hemophagocytosis, Thrombocytopenia, Hepatomegaly, Splenomegaly, Anemia, Leukopenia, Pancreatitis OMIM:222700
Lathosterolosis
Intrahepatic cholestasis, Anisopoikilocytosis, Thrombocytopenia, Hepatomegaly, Abnormal platelet ... ORPHA:46059
Gaucher Disease Type 3
Pancytopenia, Thrombocytopenia, Hepatomegaly, Anemia, Splenomegaly ORPHA:77261
Holocarboxylase Synthetase Deficiency
Thrombocytopenia OMIM:253270
Ivic Syndrome
Leukocytosis, Thrombocytopenia ORPHA:2307
Porphyria, Congenital Erythropoietic
Thrombocytopenia, Hemolytic anemia, Cholelithiasis, Splenomegaly OMIM:263700
Autosomal Recessive Polycystic Kidney Disease
Pancreatic cysts, Periportal fibrosis, Biliary hyperplasia, Cholestasis, Thrombocytopenia, Jaundi... ORPHA:731
Leptospirosis
Papilledema, Optic neuritis, Chorioretinitis, Thrombocytopenia, Jaundice, Hepatitis, Hepatomegaly... ORPHA:509
Niemann-Pick Disease Type B
Cirrhosis, Autoimmune thrombocytopenia, Acute promyelocytic leukemia, Cholelithiasis, Neoplasm of... ORPHA:77293
Gaucher Disease
Cirrhosis, Cherry red spot of the macula, Abnormal macular morphology, Pancytopenia, Thrombocytop... ORPHA:355
Fanconi Anemia, Complementation Group D2
Neutropenia, Reticulocytopenia, Pancytopenia, Thrombocytopenia, Anemia, Leukemia, Bone marrow hyp... OMIM:227646
Brucellosis
Thrombocytosis, Leukocytosis, Chorioretinitis, Thrombocytopenia, Hepatomegaly, Abnormality of the... ORPHA:1304
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Papilledema, Cholelithiasis, Pancytopenia, Thrombocytopenia, Hepatic fibrosis, Anemia, Splenomega... ORPHA:2072
Acyl-Coa Dehydrogenase 9 Deficiency
Thrombocytopenia, Hepatic steatosis ORPHA:99901
Kikuchi-Fujimoto Disease
Lymphocytosis, Generalized lymphadenopathy, Neutropenia, Thrombocytopenia, Hepatomegaly, Splenome... ORPHA:50918
Wiskott-Aldrich Syndrome
Iron deficiency anemia, Decreased mean platelet volume, Decreased proportion of CD8-positive T ce... OMIM:301000
Jacobsen Syndrome
Chorioretinal coloboma, Thrombocytopenia, Macular hypoplasia, Optic atrophy, Annular pancreas OMIM:147791
Noonan Syndrome 4
Thrombocytopenia OMIM:610733
Hepatocellular Carcinoma
Abnormality of the hepatic vasculature, Thrombocytosis, Hemobilia, Polycythemia, Thrombocytopenia... ORPHA:88673
Wiskott-Aldrich Syndrome
Hemolytic anemia, Chronic leukemia, Microcytic anemia, Lymphopenia, Neutropenia, Hypoplasia of th... ORPHA:906
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Retinal neovascularization, Retinal cotton wool spot, Macular edema, Abnormal retinal vascular mo... ORPHA:247691
Congenital Erythropoietic Porphyria
Hemolytic anemia, Reticulocytosis, Erythroid hyperplasia, Thrombocytopenia, Anisocytosis, Leukope... ORPHA:79277
Hemorrhagic Fever-Renal Syndrome
Thrombocytopenia, Leukocytosis ORPHA:340
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Lymphopenia, Neutropenia in presence of... ORPHA:391487
Fetal And Neonatal Alloimmune Thrombocytopenia
Neonatal alloimmune thrombocytopenia ORPHA:853
Duodenal Neuroendocrine Tumor
Iron deficiency anemia, Increased hematocrit, Extrahepatic cholestasis, Insulinoma, Intrahepatic ... ORPHA:100076
Bacterial Toxic-Shock Syndrome
Peritonitis, Increased circulating metamyelocyte count, Thrombocytopenia, Hepatitis, Increased ci... ORPHA:36234
21Q22.11Q22.12 Microdeletion Syndrome
Thrombocytopenia, Anemia ORPHA:261323
Primary Sjögren Syndrome
Chronic active hepatitis, Decreased proportion of CD4-positive helper T cells, Lymphopenia, Bilia... ORPHA:289390
Dyskeratosis Congenita, X-Linked
Cirrhosis, Pancytopenia, Thrombocytopenia, Acute myeloid leukemia, Anemia, Leukopenia, Optic atro... OMIM:305000
Nijmegen Breakage Syndrome
Thrombocytopenia, T lymphocytopenia, B lymphocytopenia, Autoimmune hemolytic anemia OMIM:251260
Dyskeratosis Congenita
Cirrhosis, Abnormality of neutrophils, Thrombocytopenia, Hepatomegaly, Anemia, Splenomegaly, Neop... ORPHA:1775
Thrombocytopenia-Absent Radius Syndrome
Leukocytosis, Pancreatic cysts, Thrombocytopenia, Anemia, Hepatosplenomegaly, Eosinophilia OMIM:274000
Ivic Syndrome
Thrombocytopenia, Leukocytosis OMIM:147750
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Thrombocytopenia, Vitreous hemorrhage, Retinal hemorrhage, Abnormality of the liver ORPHA:464321
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Thrombocytopenia, Hepatomegaly, Decreased hemoglobin concentration OMIM:619005
Stevens-Johnson Syndrome
Thrombocytopenia, Pancreatitis, Anemia, Abnormality of neutrophils ORPHA:36426
Thrombocytopenia-Absent Radius Syndrome
Thrombocytopenia ORPHA:3320
Diamond-Blackfan Anemia 1
Elevated red cell adenosine deaminase level, Thrombocytosis, Congenital hypoplastic anemia, Neutr... OMIM:105650
Bernard-Soulier Syndrome
Impaired ristocetin-induced platelet aggregation, Giant platelets, Decreased platelet glycoprotei... ORPHA:274
Toxic Epidermal Necrolysis
Thrombocytopenia, Pancreatitis, Neutropenia, Anemia ORPHA:537
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Thrombocytopenia ORPHA:457351
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Thrombocytopenia, Abnormality of the lymphatic system, Optic atrophy, Increased mean platelet volume ORPHA:487796
Alport Syndrome 1, X-Linked
Thrombocytopenia OMIM:301050
Dubowitz Syndrome
Thrombocytopenia, Acute lymphoblastic leukemia, Anemia, Abnormality of neutrophils ORPHA:235
Nijmegen Breakage Syndrome
Thrombocytopenia, Hemolytic anemia, Acute leukemia, Autoimmune hemolytic anemia ORPHA:647
Fibular Hemimelia
Thrombocytopenia ORPHA:93323
Deeah Syndrome
Thrombocytopenia, Hepatomegaly, Exocrine pancreatic insufficiency, Decreased hemoglobin concentra... OMIM:619004
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Thrombocytopenia, Absent gallbladder, Anemia ORPHA:163979
Tick-Borne Encephalitis
Thrombocytopenia, Leukopenia, Leukocytosis ORPHA:297
Lysinuric Protein Intolerance
Hemophagocytosis, Cirrhosis, Thrombocytopenia, Hepatomegaly, Anemia, Leukopenia, Pancreatitis, He... ORPHA:470
Neuroleptic Malignant Syndrome
Thrombocytopenia, Thrombocytosis, Leukocytosis ORPHA:94093
Cornelia De Lange Syndrome 1
Thrombocytopenia, Optic atrophy OMIM:122470
22Q11.2 Deletion Syndrome
Cholelithiasis, Thrombocytopenia, Hypoplasia of the thymus, Retinal arteriolar tortuosity, Optic ... ORPHA:567
Insulin-Resistance Syndrome Type B
Thrombocytopenia, Biliary cirrhosis, Leukopenia ORPHA:2298
Fanconi Anemia
Pyridoxine-responsive sideroblastic anemia, Thrombocytopenia, Anemia, Leukopenia, Abnormality of ... ORPHA:84
Jacobsen Syndrome
Thrombocytopenia, Bone marrow hypocellularity, Annular pancreas ORPHA:2308
Infection-Related Hemolytic Uremic Syndrome
Thrombocytopenia, Hemolytic anemia, Pancreatitis, Leukocytosis ORPHA:544482
Proteasome-Associated Autoinflammatory Syndrome 1
Microcytic anemia, Thrombocytopenia, Hepatomegaly, Splenomegaly, Lymphadenopathy OMIM:256040
Oculocerebrorenal Syndrome Of Lowe
Thrombocytopenia, Chorioretinal dysplasia, Anemia ORPHA:534
Sarcoidosis
Hemolytic anemia, Increased T cell count, Thrombocytopenia, Hepatomegaly, Eosinophilia, Anemia, L... ORPHA:797
Aicardi-Goutières Syndrome
Prolonged neonatal jaundice, Chronic lymphatic leukemia, Hepatosplenomegaly, Neonatal alloimmune ... ORPHA:51
Acute Liver Failure
Hepatocellular necrosis, Thrombocytopenia, Jaundice, Hepatitis, Hepatic necrosis, Hepatic peripor... ORPHA:90062
Roberts Syndrome
Thrombocytopenia ORPHA:3103
Osteogenesis Imperfecta
Thrombocytopenia ORPHA:666
Exercise-Induced Malignant Hyperthermia
Thrombocytopenia ORPHA:466650
Noonan Syndrome 1
Juvenile myelomonocytic leukemia, Amegakaryocytic thrombocytopenia OMIM:163950

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 Ntn4

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 Ntn4.

No publications found that use IMPC mice or data for Ntn4.

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Ntn4tm1b(KOMP)Wtsi Reporter-tagged deletion allele (post-Cre) Mice, Tissue
Ntn4tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells

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