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Gene: Ntn4 MGI:1888978

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Gene Summary

Name:
netrin 4
Synonyms:
beta-netrin

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

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
thrombocytopenia Ntn4tm1b(KOMP)Wtsi HOM Early adult 0.00
decreased hematocrit Ntn4tm1b(KOMP)Wtsi HOM Early adult 0.00
abnormal spleen morphology Ntn4tm1b(KOMP)Wtsi HOM Early adult 0.00

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lacZ Expression

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

Anatomy Images Zygosity Mutant Expr
Adrenal gland  Wholemount images heterozygote 100% (2 of 2)
Aorta  Wholemount images heterozygote 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 0.7% (4 of 575)
aorta 0.0%
bone 0.0%
brain 0.87% (5 of 577)
brainstem 0.35% (2 of 579)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 579)
cecum 5.88% (22 of 374)
cerebellum 0.52% (3 of 581)
cerebral cortex 0.35% (2 of 574)
esophagus 1.73% (7 of 404)
eye 0.0%
gall bladder 0.0%
heart 0.35% (2 of 571)
hippocampus 0.34% (2 of 586)
hypothalamus 0.35% (2 of 577)
kidney 4.66% (27 of 580)
large intestine 5.15% (30 of 583)
liver 0.0%
lower urinary tract 0.17% (1 of 583)
lung 0.34% (2 of 588)
lymph node 0.17% (1 of 587)
mammary gland 0.0%
olfactory lobe 0.17% (1 of 579)
oral epithelium 0.0%
ovary 0.17% (1 of 576)
oviduct 0.0%
pancreas 0.87% (5 of 578)
parathyroid gland 0.18% (1 of 558)
peripheral nervous system 0.34% (2 of 580)
peyers patch 0.0%
pituitary gland 0.17% (1 of 576)
prostate gland 1.89% (11 of 583)
skeletal muscle 0.0%
skin 0.17% (1 of 577)
small intestine 5.34% (31 of 581)
spinal cord 0.52% (3 of 576)
spleen 0.52% (3 of 581)
stomach 3.61% (21 of 582)
striatum 0.52% (3 of 582)
testis 1.03% (6 of 584)
thymus 0.17% (1 of 582)
thyroid gland 3.1% (18 of 581)
trachea 0.34% (2 of 589)
trigeminal v nerve 0.0%
uterus 0.35% (2 of 579)
vas deferens 4.45% (17 of 382)
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.

Adult LacZ

LacZ Images Wholemount

30 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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X-ray

XRay Images Skull Lateral Orientation

10 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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X-ray

XRay Images Forepaw

10 Images

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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
Cephalin Lipidosis
Abnormality of the spleen OMIM:212800
Atr-16 syndrome
Abnormal erythrocyte morphology DECIPHER:65
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal platelet function, Abnormal hemoglobin, Anemia, Thrombocytopenia, Splenomegaly ORPHA:231393
Diamond-Blackfan Anemia-Like
Steroid-responsive anemia, Pure red cell aplasia OMIM:617911
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant
Macrothrombocytopenia OMIM:619840
Thrombocytopenic Purpura, Autoimmune
Thrombocytopenia OMIM:188030
Diamond-Blackfan Anemia 19
Steroid-responsive anemia, Erythroid hypoplasia, Anemia OMIM:618312
Tuftsin Deficiency
Abnormality of the spleen OMIM:191150
Bleeding Disorder, Platelet-Type, 9
Thrombocytopenia OMIM:614200
Thrombocytopenia 2
Thrombocytopenia, Leukocytosis OMIM:188000
Transient Erythroblastopenia Of Childhood
Anemia, Transient erythroblastopenia OMIM:227050
Erythroleukemia, Familial, Susceptibility To
Anemia, Leukemia, Hepatomegaly, Thrombocytopenia, Erythroid hyperplasia, Splenomegaly, Acute myel... OMIM:133180
Amegakaryocytic Thrombocytopenia, Congenital
Thrombocytopenia, Amegakaryocytic thrombocytopenia, Pancytopenia OMIM:604498
Thrombocytopenia 4
Abnormal platelet volume, Thrombocytopenia OMIM:612004
Anemia, Sideroblastic, 4
Sideroblastic anemia, Abnormal erythrocyte morphology OMIM:182170
Thrombocytopenia 7
Reduced platelet dense granules, Impaired ristocetin-induced platelet aggregation, Reduced platel... OMIM:619130
Erythrocytosis, Familial, 8
Increased hematocrit, Polycythemia, Increased hemoglobin, Splenomegaly OMIM:222800
Anemia, Sideroblastic, 5
Anemia, Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia OMIM:619523
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Increased mean corpuscular volume, Thrombocytopenia, Acute myeloid leukemia OMIM:252270
Spastic Paraplegia And Evans Syndrome
Autoimmune thrombocytopenia, Coombs-positive hemolytic anemia OMIM:601608
Bleeding Disorder, Platelet-Type, 16
Macrothrombocytopenia, Anemia, Giant platelets, Impaired platelet aggregation, Thrombocytopenia, ... OMIM:187800
Asplenia, Isolated Congenital
Howell-Jolly bodies, Asplenia, Thrombocytosis OMIM:271400
Eosinophilia, Familial
Thrombocytopenia, Leukocytosis, Eosinophilia, Anemia OMIM:131400
Thrombocytopenia, Anemia, And Myelofibrosis
Thrombocytopenia, Anisopoikilocytosis, Splenomegaly, Anemia OMIM:617441
Pseudo-Von Willebrand Disease
Intermittent thrombocytopenia OMIM:177820
Beemer Lethal Malformation Syndrome
Thrombocytopenia OMIM:209970
Bleeding Disorder, Platelet-Type, 15
Thrombocytopenia, Increased mean platelet volume, Platelet anisocytosis OMIM:615193
Bone Marrow Failure Syndrome 2
Bone marrow hypocellularity, Thrombocytopenia, Leukopenia, Anemia OMIM:615715
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Hemoglobin D Disease
Abnormal hemoglobin, Anemia, Decreased mean corpuscular volume, HbS hemoglobin, Decreased mean co... ORPHA:90039
Erythrocytosis, Familial, 3
Increased hematocrit, Increased hemoglobin, Increased red blood cell mass OMIM:609820
Bleeding Disorder, Platelet-Type, 19
Macrothrombocytopenia, Thrombocytopenia, Anemia OMIM:616176
Platelet Glycoprotein Iv Deficiency
Giant platelets, Thrombocytopenia OMIM:608404
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Anemia, Bone marrow hypocellularity, Neutropenia, Increased mean corpuscular volume, Thrombocytop... OMIM:619041
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Amegakaryocytic thrombocytopenia ORPHA:71289
Erythrocytosis, Familial, 7
Increased hematocrit, Polycythemia OMIM:617981
Beta-Thalassemia, Dominant Inclusion Body Type
Erythrocyte inclusion bodies, Persistence of hemoglobin F, Hepatomegaly, Microcytic anemia, Incre... OMIM:603902
Dk Phocomelia Syndrome
Thrombocytopenia OMIM:223340
Erythrocytosis, Familial, 6
Increased hematocrit, Increased hemoglobin, Polycythemia OMIM:617980
Heinz Body Anemias
Heinz body anemia, Heinz bodies, Nonspherocytic hemolytic anemia OMIM:140700
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant
Macrothrombocytopenia, Impaired platelet aggregation OMIM:613112
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia
Macrothrombocytopenia, Impaired platelet aggregation, Thrombocytopenia OMIM:124900
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Splenomegaly, Microcytic anemia, Abnormal hemoglobin ORPHA:231242
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Thrombocytopenia OMIM:166990
Reticuloendotheliosis, X-Linked
Hepatosplenomegaly, Jaundice, Lymphadenopathy, Anemia OMIM:312500
Hemoglobin H Disease
HbH hemoglobin, Hemolytic anemia, Hepatomegaly, Reduced alpha/beta synthesis ratio, Splenomegaly OMIM:613978
Refractory Anemia
Normocytic anemia, Bone marrow hypocellularity, Anemia of inadequate production, Macrocytic anemi... ORPHA:98826
Sea-Blue Histiocyte Disease
Cirrhosis, Thrombocytopenia, Splenomegaly, Sea-blue histiocytosis OMIM:269600
Congenital Amegakaryocytic Thrombocytopenia
Abnormal hemoglobin, Thrombocytopenia, Anemia ORPHA:3319
Thrombocytopenia With Beta-Thalassemia, X-Linked
Reticulocytosis, Hemolytic anemia, Reduced platelet alpha granules, Increased RBC distribution wi... OMIM:314050
Erythrocytosis, Familial, 5
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:617907
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Leukopenia, Extramedullary hematopoiesis, Anemia, Hepatomegaly, Thrombocytopenia, Splenomegaly, N... OMIM:615285
Polycythemia Vera
Leukocytosis, Increased red blood cell mass, Splenomegaly, Thrombocytopenia, Increased hematocrit... OMIM:263300
Alpha-Thalassemia-Myelodysplastic Syndrome
HbH hemoglobin, Microcytic anemia, Thrombocytopenia, Acute leukemia, Splenomegaly, Neutropenia ORPHA:231401
Gray Platelet Syndrome
Thrombocytopenia, Splenomegaly, Abnormality of thrombocytes ORPHA:721
Platelet Signal Processing Defect
Impaired epinephrine-induced platelet aggregation, Impaired collagen-induced platelet aggregation... OMIM:173590
Roch-Leri Mesosomatous Lipomatosis
Thrombocytopenia ORPHA:529
Bleeding Disorder, Platelet-Type, 24
Impaired ristocetin-induced platelet aggregation, Impaired epinephrine-induced platelet aggregati... OMIM:619271
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Anisocytosis, Elliptocytosis, Abnormal reticulocyte morphology, Bone marrow hypocellularity, Macr... OMIM:300835
Preeclampsia/Eclampsia 1
Thrombocytopenia OMIM:189800
Acute Myelomonocytic Leukemia
Thrombocytopenia, Leukocytosis, Eosinophilia, Anemia ORPHA:517
Giant platelet syndrome with thrombocytopenia
Giant platelets, Thrombocytopenia OMIM:137560
Erythrocytosis, Familial, 4
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:611783
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Hypersplenism, Pancytopenia, Decreased helper T cell proportion, Splenomegaly OMIM:183350
Acquired Idiopathic Sideroblastic Anemia
Hyposegmentation of neutrophil nuclei, Leukocytosis, Normocytic anemia, Hypochromic anemia, Bone ... ORPHA:75564
Bilateral Striopallidodentate Calcinosis
Thrombocytopenia, Hepatomegaly, Abnormality of the liver ORPHA:1980
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Macrothrombocytopenia, Anisocytosis, Hypochromic anemia, Anemia of inadequate production, Poikilo... ORPHA:67044
Hemangioma-Thrombocytopenia Syndrome
Thrombocytopenia, Microangiopathic hemolytic anemia OMIM:141000
Delta-Beta-Thalassemia
Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231237
Thrombocythemia 1
Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Thr... OMIM:187950
Fanconi Anemia, Complementation Group G
Leukemia, Thrombocytopenia, Neutropenia, Anemia OMIM:614082
Fetal Parvovirus Syndrome
Thrombocytopenia, Anemia ORPHA:295
Hemophagocytic Lymphohistiocytosis, Familial, 4
Jaundice, Hemophagocytosis, Anemia, Hepatomegaly, Thrombocytopenia, Lymphadenopathy, Splenomegaly... OMIM:603552
Acetophenetidin Sensitivity
Methemoglobinemia, Hemolytic anemia OMIM:200300
Thrombocythemia 2
Thrombocytosis OMIM:601977
Chronic Myeloid Leukemia
Myeloproliferative disorder, Leukocytosis, Abnormal granulocyte morphology, Thrombocytopenia, Abn... ORPHA:521
Bleeding Disorder, Platelet-Type, 20
Thrombocytopenia OMIM:616913
Von Willebrand Disease, Type 2
Thrombocytopenia OMIM:613554
Thrombocytopenia 5
Anemia, Increased mean corpuscular volume, Thrombocytopenia, B Acute Lymphoblastic Leukemia, Neut... OMIM:616216
Spherocytosis, Type 5
Jaundice, Reticulocytosis, Hemolytic anemia, Abnormal platelet count, Abnormal leukocyte count, S... OMIM:612690
Central Retinal Vein Occlusion
Retinal vascular tortuosity, Papilledema, Macular degeneration, Pigmentary retinopathy, Cystoid m... ORPHA:411527
Ceroid storage disease
Abnormality of the spleen OMIM:214200
Wiskott-Aldrich Syndrome 2
Decreased proportion of CD8-positive T cells, Thrombocytopenia OMIM:614493
Fanconi Anemia, Complementation Group T
Anemia, Bone marrow hypocellularity, Thrombocytopenia, Pancytopenia, Acute myeloid leukemia OMIM:616435
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Anisocytosis, Poikilocytosis, Anemia of inadequate production, Oval macrocytosis OMIM:603529
Hemoglobin E Disease
Increased red blood cell count, Abnormal hemoglobin, Decreased mean corpuscular volume, Hypochrom... ORPHA:2133
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Anemia, Hepatomegaly, Hypersplenism, Thrombocytopenia, Splenomegaly OMIM:610539
Atypical Hemolytic Uremic Syndrome
Thrombocytopenia, Microangiopathic hemolytic anemia ORPHA:2134
Dehydrated Hereditary Stomatocytosis 2
Jaundice, Anisopoikilocytosis, Reticulocytosis, Hemolytic anemia, Increased mean corpuscular hemo... OMIM:616689
Exudative Vitreoretinopathy 2, X-Linked
Peripheral retinal avascularization, Subretinal exudate, Retinal vascular tortuosity, Retinal det... OMIM:305390
Niemann-Pick Disease, Type B
Bone-marrow foam cells, Anemia, Hepatomegaly, Sea-blue histiocytosis, Thrombocytopenia, Splenomegaly OMIM:607616
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hepatosplenomegaly, Hemophagocytosis, Anemia, Thrombocytopenia, Lymphadenopathy, Splenomegaly OMIM:613101
Fanconi Anemia, Complementation Group V
Bone marrow hypocellularity, Thrombocytopenia, Neutropenia, Anemia OMIM:617243
Erythrocytosis, Familial, 1
Splenomegaly, Increased hematocrit, Increased hemoglobin, Increased red blood cell mass OMIM:133100
Aicardi-Goutieres Syndrome 6
Thrombocytopenia, Hepatomegaly, Splenomegaly, Hemolytic anemia OMIM:615010
Ataxia-Pancytopenia Syndrome
Anemia, Hypoplastic anemia, Thrombocytopenia, Pancytopenia, Acute myelomonocytic leukemia, Neutro... OMIM:159550
Vitreoretinopathy, Neovascular Inflammatory
Posterior retinal neovascularization, Vitreoretinopathy, Peripheral retinal neovascularization, R... OMIM:193235
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia
Poikilocytosis, Congenital thrombocytopenia, Anemia of inadequate production, Acanthocytosis OMIM:300367
Cernunnos-Xlf Deficiency
Anemia, Lymphopenia, Thrombocytopenia, B lymphocytopenia, T lymphocytopenia ORPHA:169079
Woronets Trait
Red blood cell keratocytosis OMIM:194320
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Macrothrombocytopenia, Impaired epinephrine-induced platelet aggregation, Giant platelets, Impair... OMIM:155100
Exudative Vitreoretinopathy 1
Peripheral retinal avascularization, Vitreous floaters, Retinal exudate, Retinal detachment, Ecto... OMIM:133780
Familial Exudative Vitreoretinopathy
Abnormal optic disc morphology, Peripheral retinal avascularization, Vitreous floaters, Rhegmatog... ORPHA:891
Osteopetrosis, Autosomal Recessive 8
Thrombocytopenia, Hepatomegaly, Splenomegaly, Anemia OMIM:615085
Malaria
Thrombocytopenia, Anemia ORPHA:673
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Thrombocytopenia OMIM:314000
Alpha-Thalassemia
Jaundice, Hemolytic anemia, Abnormal hemoglobin, Anemia, Microcytic anemia, Hypersplenism, Cholel... ORPHA:846
Adenosine Triphosphate, Elevated, Of Erythrocytes
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia OMIM:102900
Ghosal Hematodiaphyseal Dysplasia
Thrombocytopenia, Bone marrow hypocellularity, Refractory anemia, Leukopenia OMIM:231095
Aicardi-Goutieres Syndrome 3
Hepatosplenomegaly, Thrombocytopenia OMIM:610329
Beta-Thalassemia
Anemia, Abnormal hemoglobin, Hepatomegaly, Microcytic anemia, Hepatitis, Thrombocytopenia, Cholel... ORPHA:848
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Thrombocytopenia, Congenital thrombocytopenia, Neutropenia, Anemia OMIM:616738
Moyamoya Disease With Early-Onset Achalasia
Thrombocytopenia, Abnormal platelet aggregation ORPHA:401945
Cryohydrocytosis
Stomatocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia OMIM:185020
Pontocerebellar Hypoplasia, Type 15
Chronic neutropenia, Thrombocytopenia, Anemia OMIM:619302
Forsythe-Wakeling Syndrome
Thrombocytopenia OMIM:613606
Overhydrated Hereditary Stomatocytosis
Anisocytosis, Intermittent jaundice, Reticulocytosis, Hemolytic anemia, Abnormal mean corpuscular... ORPHA:3203
Immunodeficiency 46
Neutropenia, Intermittent thrombocytopenia, Anemia OMIM:616740
Nephrotic Syndrome, Type 7
Thrombocytopenia, Hemolytic anemia OMIM:615008
Transcobalamin Deficiency
Thrombocytopenia, Pancytopenia, Lymphopenia, Neutropenia ORPHA:859
Bernard-Soulier Syndrome
Macrothrombocytopenia, Giant platelets, Thrombocytopenia, Impaired ristocetin-induced platelet ag... OMIM:231200
Osteopetrosis, Autosomal Recessive 4
Reticulocytosis, Anemia, Hepatomegaly, Thrombocytopenia, Splenomegaly OMIM:611490
Bone Marrow Failure Syndrome 4
Bone marrow hypocellularity, Thrombocytopenia, Leukopenia, Anemia OMIM:618116
Folate Malabsorption, Hereditary
Folate-responsive megaloblastic anemia, Thrombocytopenia, Leukopenia, Neutropenia OMIM:229050
Lymphoproliferative Syndrome 1
Leukopenia, Anemia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Hepatomegaly, Throm... OMIM:613011
Wolfram Syndrome, Mitochondrial Form
Sideroblastic anemia, Thrombocytopenia, Megaloblastic anemia, Neutropenia OMIM:598500
Sea-Blue Histiocytosis
Hepatomegaly, Sea-blue histiocytosis, Thrombocytopenia, Mediastinal lymphadenopathy, Splenomegaly ORPHA:158029
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Acute monocytic leukemia, Anemia, Neutropenia, Eosinophilia, Thrombocytosis, Monocytosis, Congeni... OMIM:202700
Platelet Disorder, Undefined
Impaired platelet aggregation, Thrombocytopenia OMIM:173420
Idiopathic Aplastic Anemia
Anemia, Bone marrow hypocellularity, Reticulocytopenia, Thrombocytopenia, Pancytopenia, Neutropenia ORPHA:88
Non-Involuting Congenital Hemangioma
Hepatic hemangioma, Thrombocytopenia ORPHA:141179
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Impaired ristocetin-induced platelet aggregation, Hemolytic anemia, Stomatocytosis, Thrombocytope... OMIM:153670
Hermansky-Pudlak Syndrome 9
Thrombocytopenia, Leukopenia, Abnormal platelet aggregation OMIM:614171
Pontocerebellar Hypoplasia, Type 14
Chronic neutropenia, Thrombocytopenia OMIM:619301
Gamma-Heavy Chain Disease
Anemia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Abnormal lymphocyte morphology,... ORPHA:100026
Bleeding Disorder, Platelet-Type, 21
Impaired platelet aggregation, Thrombocytopenia, Increased mean platelet volume, Impaired ADP-ind... OMIM:617443
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Intermittent thrombocytopenia, Neutropenia, Lymphadenopathy, B lymphocytopenia, Splenomegaly, Abn... OMIM:150550
Phosphoglycerate Dehydrogenase Deficiency
Thrombocytopenia, Megaloblastic anemia OMIM:601815
Wt Limb-Blood Syndrome
Leukemia, Thrombocytopenia, Pancytopenia, Hypoplastic anemia OMIM:194350
Primary Myelofibrosis
Hepatosplenomegaly, Leukocytosis, Extramedullary hematopoiesis, Anemia, Hepatomegaly, Portal hype... ORPHA:824
Transaldolase Deficiency
Hepatosplenomegaly, Thrombocytopenia, Cirrhosis, Anemia ORPHA:101028
Immunodeficiency 32B
Impaired oxidative burst, Anemia, Hepatomegaly, Eosinophilia, Thrombocytopenia, Monocytopenia, Ne... OMIM:226990
Thrombocytopenia 3
Thrombocytopenia, Decreased mean platelet volume OMIM:273900
Aicardi-Goutieres Syndrome 4
Hepatosplenomegaly, Hepatomegaly, Thrombocytopenia, Pancytopenia, Splenomegaly OMIM:610333
Leishmaniasis
Abnormal macrophage morphology, Leukopenia, Anemia, Hepatomegaly, Thrombocytopenia, Lymphadenopat... ORPHA:507
Platelet Disorder, Familial, With Associated Myeloid Malignancy
Acute monocytic leukemia, Abnormal alpha granule content, Impaired platelet aggregation, Thromboc... OMIM:601399
Gaucher Disease, Type Iii
Thrombocytopenia, Hepatomegaly, Pancytopenia, Splenomegaly OMIM:231000
Slc35A1-Cdg
Giant platelets, Thrombocytopenia, Abnormal platelet granules, Neutropenia ORPHA:238459
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome
Hepatosplenomegaly, Abnormality of the hepatic vasculature, Bone marrow hypocellularity, Portal h... ORPHA:210136
Congenital Toxoplasmosis
Jaundice, Anemia, Hepatomegaly, Thrombocytopenia, Lymphadenopathy ORPHA:858
Autoimmune Lymphoproliferative Syndrome, Type Iia
Neutropenia in presence of anti-neutropil antibodies, Increased proportion of HLA DR+ T cells, Au... OMIM:603909
Eales Disease
Subhyaloid hemorrhage, Vitreous floaters, Rhegmatogenous retinal detachment, Epiretinal membrane,... ORPHA:40923
Amed Syndrome, Digenic
Leukopenia, Anemia, Bone marrow hypocellularity, Thrombocytopenia, Acute myeloid leukemia OMIM:619151
Portal Hypertension, Noncirrhotic, 2
Hepatocellular carcinoma, Hepatomegaly, Portal hypertension, Thrombocytopenia, Nodular regenerati... OMIM:619463
Hepatoportal Sclerosis
Hepatocellular carcinoma, Abnormality of the hepatic vasculature, Jaundice, Leukopenia, Abnormal ... ORPHA:64743
Immunodeficiency 98 With Autoinflammation, X-Linked
Hemophagocytosis, Bone marrow hypocellularity, Autoimmune hemolytic anemia, Hepatomegaly, Thrombo... OMIM:301078
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Thrombocytopenia, Lymphopenia, Hemolytic anemia OMIM:616744
Diamond-Blackfan Anemia 3
Persistence of hemoglobin F, Reticulocytopenia, Macrocytic anemia, Increased mean corpuscular vol... OMIM:610629
Iron-Refractory Iron Deficiency Anemia
Hypochromic microcytic anemia, Anisocytosis, Poikilocytosis OMIM:206200
Rapidly Involuting Congenital Hemangioma
Hepatic hemangioma, Thrombocytopenia ORPHA:141184
Gray Platelet Syndrome
Impaired thrombin-induced platelet aggregation, Thrombocytopenia, Impaired collagen-induced plate... OMIM:139090
Isolated Agammaglobulinemia
Anemia, Abnormality of neutrophils, Abnormal lymphocyte morphology, Abnormality of the tonsils, T... ORPHA:229717
Sickle Cell Anemia
Reticulocytosis, Leukocytosis, Hemolytic anemia, Pigment gallstones, Cholestasis, Hypochromic ane... ORPHA:232
Babesiosis
Jaundice, Leukopenia, Hemolytic anemia, Hepatomegaly, Thrombocytopenia, Splenomegaly ORPHA:108
Isovaleric Acidemia
Bone marrow hypocellularity, Thrombocytopenia, Pancytopenia, Leukopenia OMIM:243500
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Anemia, Pancreatitis, Hepatomegaly, Thrombocytopenia, Splenomegaly, Neutropenia ORPHA:79312
Thyrocerebrorenal Syndrome
Thrombocytopenia ORPHA:3327
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To
Reticulocytosis, Hemolytic anemia, Reduced erythrocyte adenosine triphosphate concentration, Stom... OMIM:301083
Diffuse Neonatal Hemangiomatosis
Thrombocytopenia, Hepatomegaly, Anemia ORPHA:2123
Lymphoproliferative Syndrome, X-Linked, 1
Aplastic anemia, Hemophagocytosis, Fulminant hepatitis, Hepatomegaly, Thrombocytopenia, Lymphaden... OMIM:308240
Immunodeficiency 10
Thrombocytopenia, Autoimmune hemolytic anemia, Lymphadenopathy OMIM:612783
Systemic Lupus Erythematosus 17
Thrombocytopenia, Lymphopenia, Autoimmune thrombocytopenia, Leukopenia OMIM:301080
Quebec Platelet Disorder
Impaired epinephrine-induced platelet aggregation, Thrombocytopenia OMIM:601709
Omenn Syndrome
Hypoplasia of the thymus, Anemia, Severe B lymphocytopenia, Hepatomegaly, Eosinophilia, Thrombocy... OMIM:603554
Vitamin B12-Unresponsive Methylmalonic Acidemia
Leukopenia, Anemia, Pancreatitis, Hepatomegaly, Macrocytic anemia, Thrombocytopenia ORPHA:27
Thrombocytopenia, Paris-Trousseau Type
Thrombocytopenia OMIM:188025
Sitosterolemia 1
Episodic hemolytic anemia, Reticulocytosis, Anemia, Giant platelets, Stomatocytosis, Thrombocytop... OMIM:210250
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Anemia, Pancreatitis, Hepatomegaly, Thrombocytopenia, Neutropenia ORPHA:289916
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Hepatosplenomegaly, Hepatocellular carcinoma, Hemophagocytosis, Anemia, Acute lymphoblastic leuke... ORPHA:158057
Spherocytosis, Type 2
Jaundice, Reticulocytosis, Hemolytic anemia, Acanthocytosis, Spherocytosis, Splenomegaly OMIM:616649
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis
Elliptocytosis, Anemia of inadequate production, Hemolytic anemia OMIM:166910
Imerslund-Gräsbeck Syndrome
Abnormal hemoglobin concentration, Anisopoikilocytosis, Reticulocytosis, Megaloblastic anemia, Hy... ORPHA:35858
Spherocytosis, Type 4
Jaundice, Reticulocytosis, Hemolytic anemia, Spherocytosis, Splenomegaly OMIM:612653
Deafness-Lymphedema-Leukemia Syndrome
Myeloproliferative disorder, Leukocytosis, Bone marrow hypocellularity, Hepatomegaly, Thrombocyto... ORPHA:3226
Rhabdoid Tumor
Thrombocytopenia, Lymphadenopathy, Neoplasm of the liver, Anemia ORPHA:69077
Aregenerative Anemia
Bone marrow hypocellularity, Reticulocytopenia, Abnormal proportion of CD8-positive T cells, Thro... ORPHA:101096
Bleeding Disorder, Platelet-Type, 17
Macrothrombocytopenia, Impaired epinephrine-induced platelet aggregation, Absence of alpha granul... OMIM:187900
Thyrocerebroretinal Syndrome
Thrombocytopenia OMIM:274240
Dyskeratosis Congenita, Autosomal Recessive 2
Bone marrow hypocellularity, Thrombocytopenia, Pancytopenia, Cirrhosis OMIM:613987
Elliptocytosis 3
Intermittent jaundice, Elliptocytosis, Decreased mean corpuscular volume, Chronic hemolytic anemi... OMIM:617948
Letterer-Siwe Disease
Hepatosplenomegaly, Jaundice, Anemia, Thrombocytopenia, Neutropenia OMIM:246400
Pyropoikilocytosis, Hereditary
Microspherocytosis, Pyropoikilocytosis, Elliptocytosis, Hemolytic anemia OMIM:266140
Autoinflammation With Infantile Enterocolitis
Anemia, Reduced natural killer cell count, Thrombocytopenia, Pancytopenia, Splenomegaly OMIM:616050
Thrombotic Thrombocytopenic Purpura
Thrombocytopenia, Reticulocytosis, Microangiopathic hemolytic anemia ORPHA:54057
Aggressive Systemic Mastocytosis
Hepatosplenomegaly, Leukocytosis, Anemia, Leukemia, Abnormal mast cell morphology, Portal hyperte... ORPHA:98850
Immunodeficiency 97 With Autoinflammation
Hepatosplenomegaly, Neutropenia in presence of anti-neutropil antibodies, Decreased proportion of... OMIM:619802
3-Methylglutaconic Aciduria Type 4
Thrombocytopenia ORPHA:67048
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Jaundice, Megaloblastic anemia, Hepatomegaly, Increased mean corpuscular volume, Thrombocytopenia... OMIM:613839
Systemic Lupus Erythematosus
Thrombocytopenia, Leukopenia, Hemolytic anemia OMIM:152700
Tularemia
Leukocytosis, Cervical lymphadenopathy, Anemia, Abnormal nasopharyngeal adenoid morphology, Throm... ORPHA:3392
Cholesteryl Ester Storage Disease
Hepatosplenomegaly, Leukopenia, Bone-marrow foam cells, Anemia, Hepatic bridging fibrosis, Hepati... OMIM:278000
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Anemia, Autoimmune thrombocytopenia, Neutropenia, Eosinophilia, Hepatitis, Thrombocytopenia, Lymp... OMIM:304790
Fetal Gaucher Disease
Hepatomegaly, Thrombocytopenia, Pancytopenia, Abnormality of the spleen, Splenomegaly ORPHA:85212
Spherocytosis, Type 3
Spherocytosis, Hemolytic anemia OMIM:270970
Neonatal Lupus Erythematosus
Aplastic anemia, Hemolytic anemia, Cholestasis, Abnormality of the liver, Anemia, Hepatomegaly, T... ORPHA:398124
Congenital Disorder Of Glycosylation, Type Iik
Thrombocytopenia, Hepatomegaly OMIM:614727
Vitreoretinochoroidopathy
Abnormality of chorioretinal pigmentation, Pigmentary retinopathy, Retinal detachment, Retinal ar... OMIM:193220
Stuve-Wiedemann Syndrome 2
Thrombocytopenia OMIM:619751
Gaucher Disease, Type I
Anemia, Hepatomegaly, Hypersplenism, Thrombocytopenia, Pancytopenia, Splenomegaly OMIM:230800
Congenital Rubella Syndrome
Jaundice, Anemia, Hepatomegaly, Thrombocytopenia, Splenomegaly ORPHA:290
Griscelli Syndrome
Jaundice, Leukopenia, Abnormality of neutrophils, Bone marrow hypocellularity, Hepatomegaly, Hepa... ORPHA:381
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Thrombocytopenia, Microangiopathic hemolytic anemia, Anemia OMIM:612924
Immunodeficiency, Common Variable, 12, With Autoimmunity
Thrombocytopenia, Autoimmune hemolytic anemia OMIM:616576
Tufted Angioma
Thrombocytopenia, Anemia ORPHA:1063
Thiamine-Responsive Megaloblastic Anemia Syndrome
Thrombocytopenia, Megaloblastic anemia ORPHA:49827
Erythrocytosis, Familial, 2
Increased hematocrit, Increased hemoglobin, Increased red blood cell mass OMIM:263400
Macrophage Activation Syndrome
Hemophagocytosis, Anemia, Hepatomegaly, Hepatitis, Abnormal natural killer cell count, Thrombocyt... ORPHA:158061
Agammaglobulinemia 9, Autosomal Recessive
Absent circulating B cells, Thrombocytopenia OMIM:619693
Moyamoya Disease 6 With Or Without Achalasia
Thrombocytopenia OMIM:615750
Myh9-Related Disease
Giant platelets, Congenital thrombocytopenia, Neutrophil inclusion bodies, Increased mean platele... ORPHA:182050
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, 6
Thrombocytopenia, Microangiopathic hemolytic anemia, Anemia OMIM:612926
Immune Thrombocytopenia
Thrombocytopenia ORPHA:3002
Preeclampsia
Abnormality of the hepatic vasculature, Thrombocytopenia ORPHA:275555
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Extramedullary hematopoiesis, Anemia, Increased mean corpuscular volume, Sideroblastic anemia, Th... OMIM:617021
Ovalocytosis, Southeast Asian
Elliptocytosis, Hemolytic anemia OMIM:166900
Noonan Syndrome 12
Thrombocytopenia, Lymphopenia OMIM:618624
Stormorken Syndrome
Hypoplastic spleen, Asplenia, Anemia, Thrombocytopenia, Howell-Jolly bodies OMIM:185070
Thiamine-Responsive Megaloblastic Anemia Syndrome
Sideroblastic anemia, Thrombocytopenia, Thiamine-responsive megaloblastic anemia OMIM:249270
Congenital Disorder Of Glycosylation, Type Iif
Macrothrombocytopenia, Decreased platelet glycoprotein Ib, Thrombocytopenia, Neutropenia OMIM:603585
Intermediate Osteopetrosis
Hepatosplenomegaly, Thrombocytopenia, Anemia ORPHA:210110
Refractory Anemia With Excess Blasts
Leukocytosis, Abnormal mean corpuscular volume, Bone marrow hypocellularity, Anemia of inadequate... ORPHA:86839
Wilson Disease
Acute hepatitis, Jaundice, Anemia, Hepatomegaly, Cirrhosis, Hepatitis, Thrombocytopenia, Hepatic ... ORPHA:905
Atelis Syndrome 1
Thrombocytopenia, Leukopenia, Anemia OMIM:620184
Transaldolase Deficiency
Hepatosplenomegaly, Anemia, Hepatic fibrosis, Hepatomegaly, Cirrhosis, Thrombocytopenia, Micronod... OMIM:606003
Specific Granule Deficiency 2
Neutropenia, Thrombocytopenia, Absent neutrophil specific granules, Anemia OMIM:617475
Good Syndrome
Aplasia/Hypoplasia of the thymus, Thymoma, Anemia, Thrombocytopenia, Abnormal leukocyte morpholog... ORPHA:169105
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Hepatosplenomegaly, Abnormal B cell count, Decreased proportion of CD3-positive T cells, Autoimmu... ORPHA:331206
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Thrombocytopenia, Microangiopathic hemolytic anemia, Anemia OMIM:612925
Osteopetrosis, Autosomal Recessive 2
Hepatosplenomegaly, Extramedullary hematopoiesis, Anemia, Thrombocytopenia, Pancytopenia OMIM:259710
Cyclic Neutropenia
Peritonitis, Recurrent tonsillitis, Cervical lymphadenopathy, Decreased eosinophil count, Lymphop... ORPHA:2686
Aicardi-Goutieres Syndrome 5
Thrombocytopenia OMIM:612952
Braddock-Carey Syndrome 2
Thrombocytopenia OMIM:619981
Felty Syndrome
Anemia, Bone marrow hypocellularity, Hepatomegaly, Abnormal lymphocyte morphology, Thrombocytopen... ORPHA:47612
Proteasome-Associated Autoinflammatory Syndrome 2
Decreased proportion of memory B cells, Increased CD4:CD8 ratio, Thrombocytopenia, Lymphadenopath... OMIM:618048
Tempi Syndrome
Increased hematocrit, Polycythemia ORPHA:284227
Blue Rubber Bleb Nevus
Iron deficiency anemia, Thrombocytopenia, Abnormality of the liver OMIM:112200
Combined Immunodeficiency Due To Crac Channel Dysfunction
Hemolytic anemia, Hepatomegaly, Thrombocytopenia, Lymphadenopathy, Splenomegaly ORPHA:169090
Immunodeficiency 91 And Hyperinflammation
Hepatosplenomegaly, Hemophagocytosis, Hepatomegaly, Thrombocytopenia, Lymphadenopathy, Neutrophil... OMIM:619644
X-Linked Agammaglobulinemia
Anemia, Hepatitis, Abnormality of the tonsils, Thrombocytopenia, Abnormality of the lymphatic sys... ORPHA:47
Systemic Mastocytosis With Associated Hematologic Neoplasm
Myeloproliferative disorder, Leukocytosis, Myeloid leukemia, Normocytic anemia, Chronic myelomono... ORPHA:98849
Immunodeficiency With Hyper-Igm, Type 1
Hemolytic anemia, Chronic hepatitis, Hepatomegaly, Cirrhosis, Splenomegaly, Hepatitis, Thrombocyt... OMIM:308230
Pelger-Huet Anomaly
Hyposegmentation of neutrophil nuclei, Abnormality of neutrophils, Giant platelets, Thrombocytope... OMIM:169400
Pseudo-Torch Syndrome 3
Congenital thrombocytopenia, Leukocytosis, Lymphadenitis, Anemia OMIM:618886
Stt3B-Cdg
Thrombocytopenia ORPHA:370924
Gaucher Disease Type 1
Leukopenia, Biliary tract obstruction, Anemia, Hepatomegaly, Cirrhosis, Hypersplenism, Thrombocyt... ORPHA:77259
Boutonneuse Fever
Cervical lymphadenopathy, Thrombocytopenia, Lymphadenopathy, Leukopenia ORPHA:83313
Chediak-Higashi Syndrome
Giant neutrophil granules, Jaundice, Leukopenia, Hemophagocytosis, Anemia, Hepatomegaly, Impaired... OMIM:214500
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency
Bone marrow hypocellularity, Thrombocytopenia, Neutropenia, Anemia OMIM:614520
Thrombocytopenia 6
Thrombocytopenia OMIM:616937
Cog4-Cdg
Hepatosplenomegaly, Thrombocytopenia, Cirrhosis ORPHA:263501
Congenital Disorder Of Glycosylation, Type Ix
Thrombocytopenia OMIM:615597
Thrombotic Thrombocytopenic Purpura, Hereditary
Jaundice, Reticulocytosis, Microangiopathic hemolytic anemia, Prolonged neonatal jaundice, Thromb... OMIM:274150
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1
Congenital thrombocytopenia, Amegakaryocytic thrombocytopenia, Aplastic anemia OMIM:605432
Castleman Disease
Generalized lymphadenopathy, Jaundice, Anemia, Decreased mean corpuscular volume, Follicular hype... ORPHA:160
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Hepatosplenomegaly, Decreased proportion of memory B cells, Jaundice, Abnormal lymphocyte count, ... ORPHA:79124
Propionic Acidemia
Anemia, Pancreatitis, Hepatomegaly, Thrombocytopenia, Pancytopenia, Neutropenia OMIM:606054
Proteasome-Associated Autoinflammatory Syndrome 3
Anemia, Hepatomegaly, Lymphopenia, Thrombocytopenia, Lymphadenopathy, Splenomegaly OMIM:617591
Kasabach-Merritt Syndrome
Hepatic hemangioma, Reticulocytosis, Microangiopathic hemolytic anemia, Leukopenia, Anemia, Abnor... ORPHA:2330
Hereditary Folate Malabsorption
Thrombocytopenia, Pancytopenia, Megaloblastic anemia, Eosinophilia ORPHA:90045
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hepatosplenomegaly, Jaundice, Leukopenia, Hemophagocytosis, Anemia, Hepatomegaly, Thrombocytopeni... OMIM:603553
Prolidase Deficiency
Anemia, Hepatomegaly, Prolonged neonatal jaundice, Thrombocytopenia, Splenomegaly OMIM:170100
Relapsing Fever
Jaundice, Leukocytosis, Leukopenia, Anemia, Thrombocytopenia, Neutrophilia ORPHA:91547
Von Willebrand Disease, Type 3
Impaired platelet aggregation, Thrombocytopenia OMIM:277480
Acute Promyelocytic Leukemia
Leukocytosis, Leukopenia, Anemia, Thrombocytopenia, Lymphadenopathy, Pancytopenia, Neutropenia ORPHA:520
Hemophagocytic Lymphohistiocytosis, Familial, 1
Jaundice, Leukopenia, Hemophagocytosis, Anemia, Hepatomegaly, Thrombocytopenia, Lymphadenopathy, ... OMIM:267700
Familial Hemophagocytic Lymphohistiocytosis
Jaundice, Cholestatic liver disease, Hemophagocytosis, Anemia, Hepatomegaly, Thrombocytopenia, Ly... ORPHA:540
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Thrombocytopenia, Increased mean platelet volume OMIM:300048
Sengers Syndrome
Thrombocytopenia OMIM:212350
Kaposiform Lymphangiomatosis
Hepatosplenomegaly, Abnormal spleen morphology, Anemia, Abnormal lymphatic vessel morphology, Thr... ORPHA:464329
Immunodeficiency, Common Variable, 8, With Autoimmunity
Decreased proportion of class-switched memory B cells, Generalized lymphadenopathy, Chronic neutr... OMIM:614700
Congenital Enterovirus Infection
Abnormal macrophage morphology, Leukocytosis, Leukopenia, Anemia, Cholestasis, Hepatitis, Thrombo... ORPHA:292
Osteopetrosis, Autosomal Recessive 1
Anemia, Hepatomegaly, Thrombocytopenia, Pancytopenia, Splenomegaly OMIM:259700
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Thrombocytopenia, Pancytopenia, Leukopenia, Anemia OMIM:613845
Dyskeratosis Congenita, Autosomal Dominant 1
Leukopenia, Aplastic anemia, Anemia, Bone marrow hypocellularity, Lymphopenia, Cirrhosis, Increas... OMIM:127550
Thrombocytopenia 1
Congenital thrombocytopenia, Intermittent thrombocytopenia, Decreased mean platelet volume OMIM:313900
Hermansky-Pudlak Syndrome 5
Impaired ADP-induced platelet aggregation, Thrombocytopenia, Absent platelet dense granules OMIM:614074
Drug-Induced Lupus Erythematosus
Thrombocytopenia, Anemia ORPHA:231111
Hemophagocytic Syndrome Associated With An Infection
Hemophagocytosis, Anemia, Hepatomegaly, Abnormal natural killer cell count, Thrombocytopenia, Pan... ORPHA:158048
Methylmalonic Aciduria, Cblb Type
Anemia, Hepatomegaly, Thrombocytopenia, Pancytopenia, Neutropenia OMIM:251110
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Leukopenia, Pancreatitis, Hepatomegaly, Thrombocytopenia, Neutropenia OMIM:251000
Congenital Disorder Of Glycosylation, Type Ih
Cholestasis, Thrombocytopenia, Hepatomegaly, Anemia OMIM:608104
Mevalonic Aciduria
Hepatosplenomegaly, Leukocytosis, Anemia, Normocytic hypoplastic anemia, Thrombocytopenia, Lympha... OMIM:610377
Dyskeratosis Congenita, Autosomal Dominant 2
Leukopenia, Aplastic anemia, Bone marrow hypocellularity, Hepatic fibrosis, Thrombocytopenia, Pan... OMIM:613989
Neurodevelopmental Disorder With Hearing Loss, Seizures, And Brain Abnormalities
Thrombocytopenia OMIM:616577
Red Cell Permeability Defect
Elliptocytosis OMIM:179650
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Thrombocytopenia, Neutropenia, Normochromic anemia OMIM:614857
Hoyeraal-Hreidarsson Syndrome
Abnormal leukocyte morphology, Bone marrow hypocellularity, Thrombocytopenia, Anemia ORPHA:3322
Caroli Syndrome
Cholangitis, Jaundice, Leukocytosis, Liver abscess, Leukopenia, Intrahepatic cholestasis, Pancrea... ORPHA:480520
Wolfram Syndrome 1
Sideroblastic anemia, Thrombocytopenia, Megaloblastic anemia OMIM:222300
Beemer-Ertbruggen Syndrome
Thrombocytopenia ORPHA:1237
Congenital Disorder Of Glycosylation, Type Iil
Cholestasis, Hepatomegaly, Cirrhosis, Thrombocytopenia, Pancytopenia, Splenomegaly OMIM:614576
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Jaundice, Hepatomegaly, Periportal fibrosis, Depletion of mitochondrial DNA in liver, Portal hype... OMIM:251880
Hermansky-Pudlak Syndrome 2
Hepatosplenomegaly, Decreased CD4:CD8 ratio, Hepatomegaly, Reduced natural killer cell count, Imp... OMIM:608233
Immunodeficiency 47
Leukopenia, Normocytic anemia, Cholestasis, Hepatic bridging fibrosis, Hepatic fibrosis, Hepatome... OMIM:300972
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Thrombocytopenia, Reticulocytosis, Microangiopathic hemolytic anemia, Schistocytosis OMIM:235400
Bone Marrow Failure Syndrome 3
Exocrine pancreatic insufficiency, Aplastic anemia, Anemia, Bone marrow hypocellularity, Persiste... OMIM:617052
Shwachman-Diamond Syndrome 1
Acute myeloid leukemia, Anemia, Persistence of hemoglobin F, Hepatomegaly, Neutropenia, Thrombocy... OMIM:260400
Dengue Fever
Thrombocytopenia, Hepatomegaly, Leukopenia ORPHA:99828
Diffuse Alveolar Hemorrhage
Thrombocytopenia, Leukocytosis, Anemia ORPHA:90060
Immunodeficiency 40
Thrombocytopenia, Hepatomegaly, Macrovesicular hepatic steatosis, T lymphocytopenia OMIM:616433
Pearson Marrow-Pancreas Syndrome
Refractory sideroblastic anemia, Anemia, Neutropenia, Hepatomegaly, Reticulocytopenia, Hypoplasti... OMIM:557000
Tangier Disease
Hepatosplenomegaly, Orange discolored tonsils, Anemia, Chronic noninfectious lymphadenopathy, Thr... ORPHA:31150
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Hepatosplenomegaly, Hypoplasia of the thymus, Intermittent thrombocytopenia, Leukopenia, Anemia, ... OMIM:612541
Dyskeratosis Congenita, Autosomal Recessive 1
Aplastic anemia, Bone marrow hypocellularity, Hepatic fibrosis, Thrombocytopenia, Pancytopenia OMIM:224230
Combined Oxidative Phosphorylation Deficiency 14
Elevated hepatic iron concentration, Thrombocytopenia, Anemia, Increased hepatic glycogen content OMIM:614946
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Leukopenia, Anemia, Bone marrow hypocellularity, Lymphopenia, Reticulocytopenia, Thrombocytopenia... ORPHA:508542
Mucopolysaccharidosis-Plus Syndrome
Leukopenia, Anemia, Bone marrow hypocellularity, Hepatomegaly, Thrombocytopenia, Macrovesicular h... OMIM:617303
Pseudo-Torch Syndrome 1
Jaundice, Thrombocytopenia, Hepatomegaly, Splenomegaly OMIM:251290
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Megaloblastic anemia, Anemia, Hepatomegaly, Thrombocytopenia, Pancytopenia, Neutropenia OMIM:277380
Shwachman-Diamond Syndrome
Pancreatic hypoplasia, Exocrine pancreatic insufficiency, Leukopenia, Normocytic anemia, Aplastic... ORPHA:811
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Hypochromic microcytic anemia, Thrombocytopenia ORPHA:3240
Vexas Syndrome
Thrombocytopenia, Macrocytic anemia OMIM:301054
Ebola Hemorrhagic Fever
Leukopenia, Lymphopenia, Hepatitis, Acute pancreatitis, Thrombocytopenia ORPHA:319218
Fanconi Anemia, Complementation Group E
Anemia, Leukemia, Reticulocytopenia, Thrombocytopenia, Pancytopenia, Neutropenia OMIM:600901
Osteopetrosis, Autosomal Recessive 5
Hepatosplenomegaly, Leukocytosis, Extramedullary hematopoiesis, Anemia, Hepatomegaly, Thrombocyto... OMIM:259720
Acquired Purpura Fulminans
Thrombocytopenia ORPHA:49566
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Cholelithiasis, Thrombocytopenia, Normochromic anemia OMIM:618775
Holocarboxylase Synthetase Deficiency
Thrombocytopenia ORPHA:79242
Methylmalonic Aciduria, Cbla Type
Anemia, Hepatomegaly, Thrombocytopenia, Pancytopenia, Neutropenia OMIM:251100
Mirage Syndrome
Hypoplastic spleen, Leukopenia, Anemia, Lymphopenia, Thrombocytopenia OMIM:617053
Mitochondrial Complex I Deficiency, Nuclear Type 20
Thrombocytopenia, Microvesicular hepatic steatosis OMIM:611126
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Jaundice, Cholestatic liver disease, Giant cell hepatitis, Thrombocytopenia, Hepatic melanin-like... OMIM:208085
Shwachman-Diamond Syndrome 2
Normocytic anemia, Neutropenia, Hepatomegaly, Thrombocytopenia, Hyperechogenic pancreas, Exocrine... OMIM:617941
Pediatric-Onset Graves Disease
Neutropenia in presence of anti-neutropil antibodies, Jaundice, Hepatomegaly, Thrombocytopenia, S... ORPHA:525731
Alg8-Cdg
Thrombocytopenia, Anemia ORPHA:79325
Immunodeficiency 22
Decreased proportion of CD4-positive helper T cells, Thrombocytopenia, Anemia OMIM:615758
Dyskeratosis Congenita, Autosomal Dominant 3
Leukopenia, Aplastic anemia, Bone marrow hypocellularity, Thrombocytopenia, Pancytopenia OMIM:613990
Braddock-Carey Syndrome 1
Thrombocytopenia OMIM:619980
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures
Thrombocytopenia OMIM:617710
Schimke Immuno-Osseous Dysplasia
Decreased proportion of naive CD8 T cells, Anemia, Pancreatitis, Bone marrow hypocellularity, Lym... ORPHA:1830
Pediatric Systemic Lupus Erythematosus
Microangiopathic hemolytic anemia, Leukopenia, Lymphopenia, Thrombocytopenia, Lymphadenopathy ORPHA:93552
Gaucher Disease, Type Ii
Thrombocytopenia, Hepatomegaly, Splenomegaly, Anemia OMIM:230900
Necrotizing Enterocolitis
Peritonitis, Thrombocytopenia, Leukocytosis, Neutropenia ORPHA:391673
Snakebite Envenomation
Thrombocytopenia ORPHA:449285
Fanconi Anemia, Complementation Group A
Anemia, Leukemia, Reticulocytopenia, Thrombocytopenia, Pancytopenia, Neutropenia OMIM:227650
Schimke Immunoosseous Dysplasia
Anemia, Neutropenia, Lymphopenia, Thrombocytopenia, Pancytopenia, Abnormal T cell morphology OMIM:242900
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Cervical lymphadenopathy, Thrombocytopenia, Lymphadenopathy, Lymphocytosis, Decreased mean platel... OMIM:617718
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Thrombocytopenia, Leukocytosis ORPHA:83601
Sepsis In Premature Infants
Jaundice, Leukocytosis, Anemia, Hepatomegaly, Thrombocytopenia, Splenomegaly, Neutropenia ORPHA:90051
Maternal Uniparental Disomy Of Chromosome 6
Thrombocytopenia ORPHA:96181
Zika Virus Disease
Thrombocytopenia ORPHA:448237
Lig4 Syndrome
Acute lymphoblastic leukemia, Thrombocytopenia, Pancytopenia OMIM:606593
Chédiak-Higashi Syndrome
Vacuolated lymphocytes, Hepatosplenomegaly, Jaundice, Hemophagocytosis, Anemia, Abnormal platelet... ORPHA:167
Q Fever
Hepatosplenomegaly, Abnormality of the liver, Anemia, Hepatomegaly, Hepatitis, Thrombocytopenia, ... ORPHA:781
Fanconi Anemia, Complementation Group C
Anemia, Leukemia, Bone marrow hypocellularity, Reticulocytopenia, Thrombocytopenia, Pancytopenia,... OMIM:227645
Aicardi-Goutieres Syndrome 1
Thrombocytopenia, Hepatomegaly, Prolonged neonatal jaundice, Splenomegaly OMIM:225750
Diamond-Blackfan Anemia
Leukopenia, Pure red cell aplasia, Persistence of hemoglobin F, Neutropenia, Reticulocytopenia, I... ORPHA:124
Smith-Kingsmore Syndrome
Thrombocytopenia OMIM:616638
Gaucher Disease, Perinatal Lethal
Hepatosplenomegaly, Anemia, Hepatomegaly, Thrombocytopenia, Splenomegaly OMIM:608013
Farber Disease
Hepatosplenomegaly, Anemia, Intrahepatic cholestasis with episodic jaundice, Hepatic fibrosis, Th... ORPHA:333
Pseudo-Torch Syndrome 2
Thrombocytopenia, Hepatomegaly OMIM:617397
Hellp Syndrome
Decreased mean corpuscular hemoglobin concentration, Thrombocytopenia, Microangiopathic hemolytic... ORPHA:244242
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Peritonitis, Leukocytosis, Microangiopathic hemolytic anemia, Reticulocytosis, Pancreatitis, Thro... ORPHA:90038
Catastrophic Antiphospholipid Syndrome
Thrombocytopenia, Microangiopathic hemolytic anemia, Coombs-positive hemolytic anemia ORPHA:464343
Adams-Oliver Syndrome
Leukopenia, Congenital hepatic fibrosis, Cirrhosis, Portal hypertension, Thrombocytopenia ORPHA:974
Cleft Palate, Proliferative Retinopathy, And Developmental Delay
Retinal neovascularization OMIM:619074
Hepatocellular Carcinoma
Abnormality of the hepatic vasculature, Hemobilia, Jaundice, Liver abscess, Polycythemia, Abnorma... ORPHA:88673
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Thrombocytopenia, Hepatomegaly, Leukopenia OMIM:301056
Avian Influenza
Hepatitis, Thrombocytopenia, Lymphopenia, Leukopenia ORPHA:454836
Fanconi Anemia, Complementation Group F
Bone marrow hypocellularity, Thrombocytopenia, Leukopenia, Anemia OMIM:603467
Congenital Disorder Of Glycosylation, Type Iig
Giant platelets, Thrombocytopenia, Anemia OMIM:611209
Idiopathic Hypereosinophilic Syndrome
Hepatosplenomegaly, Cholangitis, Generalized lymphadenopathy, Myeloproliferative disorder, Leukoc... ORPHA:3260
Wiskott-Aldrich Syndrome
Hypoplasia of the thymus, Hemolytic anemia, Anemia, Abnormal platelet function, Lymphopenia, Micr... ORPHA:906
Ivic Syndrome
Thrombocytopenia, Leukocytosis ORPHA:2307
Diamond-Blackfan Anemia 21
Thrombocytopenia, Erythroid hypoplasia, Anemia OMIM:620072
Porphyria, Congenital Erythropoietic
Jaundice, Hemolytic anemia, Hepatomegaly, Thrombocytopenia, Cholelithiasis, Splenomegaly OMIM:263700
3-Methylglutaconic Aciduria, Type Viib
Thrombocytopenia, Hepatic steatosis, Leukopenia, Neutropenia OMIM:616271
Lysinuric Protein Intolerance
Leukopenia, Hemophagocytosis, Anemia, Pancreatitis, Hepatomegaly, Thrombocytopenia, Splenomegaly OMIM:222700
Kikuchi-Fujimoto Disease
Generalized lymphadenopathy, Leukopenia, Cervical lymphadenopathy, Anemia, Hepatomegaly, Abnormal... ORPHA:50918
Shigellosis
Peritonitis, Leukocytosis, Microangiopathic hemolytic anemia, Cholestasis, Thrombocytopenia, Sple... ORPHA:810
Gaisböck Syndrome
Increased red blood cell count, Increased mean corpuscular hemoglobin concentration, Cholecystiti... ORPHA:90041
Lathosterolosis
Anisopoikilocytosis, Intrahepatic cholestasis, Hepatomegaly, Thrombocytopenia, Abnormal platelet ... ORPHA:46059
Fetal And Neonatal Alloimmune Thrombocytopenia
Neonatal alloimmune thrombocytopenia ORPHA:853
Acyl-Coa Dehydrogenase 9 Deficiency
Thrombocytopenia, Hepatic steatosis ORPHA:99901
Gaucher Disease Type 3
Anemia, Hepatomegaly, Thrombocytopenia, Pancytopenia, Splenomegaly ORPHA:77261
Diamond-Blackfan Anemia 1
Persistence of hemoglobin F, Reticulocytopenia, Macrocytic anemia, Increased mean corpuscular vol... OMIM:105650
Fanconi Anemia, Complementation Group B
Thrombocytopenia, Aplastic anemia OMIM:300514
Autosomal Recessive Polycystic Kidney Disease
Hepatosplenomegaly, Cholangitis, Jaundice, Cholestasis, Congenital hepatic fibrosis, Hepatic fibr... ORPHA:731
Holocarboxylase Synthetase Deficiency
Thrombocytopenia OMIM:253270
16Q24.3 Microdeletion Syndrome
Increased mean corpuscular volume, Thrombocytopenia ORPHA:261250
Overlap Myositis
Thrombocytopenia, Leukopenia ORPHA:206572
Bernard-Soulier Syndrome
Macrothrombocytopenia, Giant platelets, Decreased platelet glycoprotein Ib-IX-V, Impaired ristoce... ORPHA:274
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Hepatosplenomegaly, Neutropenia in presence of anti-neutropil antibodies, Autoimmune thrombocytop... ORPHA:391487
Fanconi Anemia, Complementation Group D2
Anemia, Leukemia, Bone marrow hypocellularity, Reticulocytopenia, Thrombocytopenia, Pancytopenia,... OMIM:227646
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Abnormal retinal vascular morphology, Retinal cotton wool spot, Retinal neovascularization, Macul... ORPHA:247691
Noonan Syndrome 4
Thrombocytopenia OMIM:610733
Pearson Syndrome
Reticulocytosis, Hypoplastic spleen, Abnormality of the liver, Anemia, Bone marrow hypocellularit... ORPHA:699
Aicardi-Goutieres Syndrome 7
Generalized lymphadenopathy, Hemolytic anemia, Anemia, Hepatomegaly, Hepatitis, Thrombocytopenia,... OMIM:615846
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Anemia, Severe B lymphocytopenia, Hepatic fibrosis, Lymphopenia, Macronodular cirrhosis, Portal h... OMIM:620005
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Thrombocytopenia, Normochromic anemia OMIM:254900
Wilson Disease
Hepatocellular carcinoma, Jaundice, Atypical or prolonged hepatitis, Hemolytic anemia, Anemia, He... OMIM:277900
Combined Oxidative Phosphorylation Deficiency 55
Thrombocytopenia, Anemia OMIM:619743
Duodenal Neuroendocrine Tumor
Intrahepatic cholestasis with episodic jaundice, Insulinoma, Extrahepatic cholestasis, Lymphadeno... ORPHA:100076
Mogs-Cdg
Hepatosplenomegaly, Thrombocytopenia, Hepatomegaly ORPHA:79330
Immunodeficiency 87 And Autoimmunity
Jaundice, Cervical lymphadenopathy, Hemolytic anemia, Decreased CD4:CD8 ratio, Cholestasis, Autoi... OMIM:619573
Dyskeratosis Congenita
Anemia, Neoplasm of the pancreas, Abnormality of neutrophils, Bone marrow hypocellularity, Hepato... ORPHA:1775
Congenital Erythropoietic Porphyria
Anisocytosis, Reticulocytosis, Leukopenia, Hemolytic anemia, Thrombocytopenia, Erythroid hyperpla... ORPHA:79277
Takenouchi-Kosaki Syndrome
Thrombocytopenia, Increased mean platelet volume OMIM:616737
21Q22.11Q22.12 Microdeletion Syndrome
Thrombocytopenia, Anemia ORPHA:261323
Brucellosis
Leukocytosis, Liver abscess, Leukopenia, Abnormality of the liver, Anemia, Hepatomegaly, Thromboc... ORPHA:1304
Paroxysmal Nocturnal Hemoglobinuria
Jaundice, Reticulocytosis, Leukopenia, Hemolytic anemia, Anemia, Thrombocytopenia, Pancytopenia, ... ORPHA:447
Hardikar Syndrome
Hepatosplenomegaly, Cholangitis, Jaundice, Cholestasis, Portal inflammation, Bile duct proliferat... OMIM:301068
Bacterial Toxic-Shock Syndrome
Peritonitis, Increased circulating myelocyte count, Hepatitis, Thrombocytopenia, Increased circul... ORPHA:36234
Osteopetrosis With Renal Tubular Acidosis
Elliptocytosis, Leukopenia, Anemia, Bone marrow hypocellularity, Hepatomegaly, Thrombocytopenia, ... ORPHA:2785
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Bone marrow hypocellularity, Thrombocytopenia, Anemia OMIM:612199
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Hepatosplenomegaly, Leukopenia, Anemia, Bone marrow hypocellularity, Thrombocytopenia ORPHA:505248
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Thrombocytopenia ORPHA:457351
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Thrombocytopenia, Megaloblastic anemia, Neutropenia OMIM:277400
Wiskott-Aldrich Syndrome
Impaired lymphocyte transformation with phytohemagglutinin, Absent microvilli on the surface of p... OMIM:301000
Lujo Hemorrhagic Fever
Leukocytosis, Leukopenia, Fulminant hepatitis, Lymphopenia, Thrombocytopenia ORPHA:319213
Bone Fragility With Contractures, Arterial Rupture, And Deafness
Thrombocytopenia OMIM:612394
Stevens-Johnson Syndrome
Pancreatitis, Abnormality of neutrophils, Thrombocytopenia, Anemia ORPHA:36426
Rift Valley Fever
Hepatitis, Jaundice, Thrombocytopenia, Anemia ORPHA:319251
Ivic Syndrome
Thrombocytopenia, Leukocytosis OMIM:147750
Toxic Epidermal Necrolysis
Pancreatitis, Thrombocytopenia, Neutropenia, Anemia ORPHA:537
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Thrombocytopenia, Hepatomegaly, Decreased hemoglobin concentration OMIM:619005
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Micronodular cirrhosis, Thrombocytopenia, Hepatomegaly, Splenomegaly OMIM:301072
Wars2-Related Combined Oxidative Phosphorylation Defect
Thrombocytopenia ORPHA:572798
Chronic Visceral Acid Sphingomyelinase Deficiency
Neoplasm of the liver, Autoimmune thrombocytopenia, Hepatomegaly, Cirrhosis, Thrombocytopenia, Hy... ORPHA:77293
Thrombocytopenia-Absent Radius Syndrome
Thrombocytopenia ORPHA:3320
Atelis Syndrome 2
Thrombocytopenia, Anemia OMIM:620185
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Hepatosplenomegaly, Anemia, Hepatic fibrosis, Thrombocytopenia, Pancytopenia, Abnormality of the ... ORPHA:2072
Alport Syndrome 1, X-Linked
Thrombocytopenia OMIM:301050
Dubowitz Syndrome
Abnormality of neutrophils, Acute lymphoblastic leukemia, Thrombocytopenia, Anemia ORPHA:235
Alg12-Cdg
Thrombocytopenia, B lymphocytopenia ORPHA:79324
Congenital Disorder Of Glycosylation, Type Iiw
Anemia, Bile duct proliferation, Hepatomegaly, Prolonged neonatal jaundice, Microcytic anemia, In... OMIM:619525
Primary Sjögren Syndrome
Normocytic anemia, Leukopenia, Chronic active hepatitis, Chronic hepatitis, Lymphopenia, Thromboc... ORPHA:289390
Nijmegen Breakage Syndrome
Autoimmune hemolytic anemia, Thrombocytopenia, B lymphocytopenia, T lymphocytopenia OMIM:251260
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Jaundice, Thrombocytopenia, Megaloblastic anemia, Neutropenia ORPHA:79282