banner
Genes Phenotypes Help, News, Blog

Gene: Adamts13 MGI:2685556

Log in to follow

Gene Summary

Name:
a disintegrin-like and metallopeptidase (reprolysin type) with thrombospondin type 1 motif, 13
Synonyms:
LOC279028,  vWF-CP mRNA for von Willebrand factor-cleaving

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.

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

lacZ Expression

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

Anatomy Images Zygosity Mutant Expr
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Aorta N/A heterozygote 0.0% (0 of 2)
Bone N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 0.0% (0 of 2)
Brainstem N/A heterozygote 0.0% (0 of 2)
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 0.0% (0 of 2)
Cecum N/A heterozygote 0.0% (0 of 2)
Cerebellum N/A heterozygote 0.0% (0 of 2)
Cerebral cortex N/A heterozygote 0.0% (0 of 2)
Esophagus N/A heterozygote 0.0% (0 of 2)
Eye N/A heterozygote Not available
Gall bladder N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote 0.0% (0 of 2)
Hippocampus N/A heterozygote 0.0% (0 of 2)
Hypothalamus N/A heterozygote 0.0% (0 of 2)
Kidney N/A heterozygote 0.0% (0 of 2)
Large intestine N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote 0.0% (0 of 2)
Lung N/A heterozygote 0.0% (0 of 2)
Lymph node N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote 0.0% (0 of 2)
Oral epithelium N/A heterozygote 0.0% (0 of 2)
Ovary N/A heterozygote 0.0% (0 of 2)
Oviduct N/A heterozygote 0.0% (0 of 2)
Pancreas N/A heterozygote 0.0% (0 of 2)
Parathyroid gland N/A heterozygote 0.0% (0 of 2)
Peripheral nervous system N/A heterozygote 0.0% (0 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Pituitary gland N/A heterozygote 0.0% (0 of 2)
Prostate gland N/A heterozygote 0.0% (0 of 2)
Skeletal muscle N/A heterozygote 0.0% (0 of 2)
Skin 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)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach N/A heterozygote 0.0% (0 of 2)
Striatum N/A heterozygote 0.0% (0 of 2)
Testis N/A heterozygote 50% (1 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 0.0% (0 of 2)
Trachea N/A heterozygote 0.0% (0 of 2)
Trigeminal V nerve N/A heterozygote 0.0% (0 of 2)
Uterus N/A heterozygote 0.0% (0 of 2)
Vas deferens N/A heterozygote Not available
Vascular system N/A heterozygote 0.0% (0 of 2)
White adipose tissue N/A heterozygote 0.0% (0 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 0.67% (4 of 598)
aorta 0.17% (1 of 598)
bone 0.0%
brain 0.84% (5 of 598)
brainstem 0.33% (2 of 598)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 598)
cecum 5.73% (22 of 384)
cerebellum 0.5% (3 of 598)
cerebral cortex 0.33% (2 of 598)
esophagus 1.66% (7 of 422)
eye 0.0%
gall bladder 0.0%
heart 0.33% (2 of 598)
hippocampus 0.5% (3 of 598)
hypothalamus 0.33% (2 of 598)
kidney 4.52% (27 of 598)
large intestine 5.35% (32 of 598)
liver 0.0%
lower urinary tract 0.17% (1 of 598)
lung 0.33% (2 of 598)
lymph node 0.17% (1 of 598)
mammary gland 0.0%
olfactory lobe 0.33% (2 of 598)
oral epithelium 0.0%
ovary 0.17% (1 of 598)
oviduct 0.0%
pancreas 0.84% (5 of 598)
parathyroid gland 0.17% (1 of 576)
peripheral nervous system 0.33% (2 of 598)
peyers patch 0.0%
pituitary gland 0.17% (1 of 598)
prostate gland 2.17% (13 of 598)
skeletal muscle 0.0%
skin 0.17% (1 of 598)
small intestine 5.35% (32 of 598)
spinal cord 0.5% (3 of 598)
spleen 0.5% (3 of 598)
stomach 3.68% (22 of 598)
striatum 0.5% (3 of 598)
testis 1% (6 of 598)
thymus 0.17% (1 of 598)
thyroid gland 3.01% (18 of 598)
trachea 0.5% (3 of 598)
trigeminal v nerve 0.0%
uterus 0.33% (2 of 598)
vas deferens 4.56% (18 of 395)
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 Whole Body Dorso Ventral

8 Images

View images
X-ray

XRay Images Forepaw

8 Images

View images
X-ray

XRay Images Whole Body Lateral Orientation

8 Images

View images
X-ray

XRay Images Skull Dorso Ventral Orientation

8 Images

View images
X-ray

XRay Images Skull Lateral Orientation

8 Images

View images

Human diseases caused by Adamts13 mutations

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

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

The table below shows human diseases associated to Adamts13 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Thrombotic Thrombocytopenic Purpura, Hereditary
Microangiopathic hemolytic anemia, Reticulocytosis, Increased blood urea nitrogen, Schistocytosis... OMIM:274150

The table below shows human diseases predicted to be associated to Adamts13 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Platelet Aggregation, Spontaneous
Spontaneous platelet aggregation, Abnormal platelet function OMIM:173400
Athrombia, Essential
Prolonged bleeding time, Impaired platelet adhesion, Impaired platelet aggregation OMIM:209050
Thrombocytopenia 7
Impaired arachidonic acid-induced platelet aggregation, Impaired ADP-induced platelet aggregation... OMIM:619130
Platelet Responsiveness To Adrenaline, Depressed
Impaired epinephrine-induced platelet aggregation OMIM:173580
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant
Macrothrombocytopenia, Impaired platelet aggregation OMIM:613112
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Abnormal platelet function, Thrombocytopenia, Abnormal hemoglobin, Splenomegaly ORPHA:231393
Von Willebrand Disease, X-Linked Form
Prolonged bleeding time OMIM:314560
Thrombocythemia 1
Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggregation, Thromb... OMIM:187950
Platelet Signal Processing Defect
Thrombocytopenia, Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet a... OMIM:173590
Bleeding Disorder, Platelet-Type, 22
Impaired platelet aggregation OMIM:618462
Pseudo-Von Willebrand Disease
Prolonged bleeding time, Intermittent thrombocytopenia OMIM:177820
Bleeding Disorder, Platelet-Type, 24
Impaired arachidonic acid-induced platelet aggregation, Impaired ADP-induced platelet aggregation... OMIM:619271
Glanzmann Thrombasthenia 2
Decreased platelet glycoprotein IIb-IIIa, Impaired ADP-induced platelet aggregation, Impaired epi... OMIM:619267
Tatsumi Factor Deficiency
Prolonged bleeding time OMIM:272650
Bleeding Disorder, Platelet-Type, 18
Prolonged bleeding time, Impaired ADP-induced platelet aggregation, Impaired epinephrine-induced ... OMIM:615888
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia
Macrothrombocytopenia, Thrombocytopenia, Impaired platelet aggregation OMIM:124900
Myelolymphatic Insufficiency
Leukopenia, Recurrent bacterial infections, Hyposegmentation of neutrophil nuclei, Recurrent vira... OMIM:310350
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
Recurrent candida infections, Recurrent bacterial infections, T lymphocytopenia, Decreased circul... OMIM:242870
Von Willebrand Disease
Abnormality of thrombocytes, Abnormal platelet function ORPHA:903
Bleeding Disorder, Platelet-Type, 11
Prolonged bleeding time, Abnormal platelet count, Impaired ristocetin-induced platelet aggregatio... OMIM:614201
Platelet Disorder, Undefined
Prolonged bleeding time, Thrombocytopenia, Impaired platelet aggregation OMIM:173420
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Recurrent bacterial infections, Recurrent protozoan infections, Abnormality of T cell physiology,... OMIM:308220
Glanzmann Thrombasthenia 1
Decreased platelet glycoprotein IIb-IIIa, Impaired ADP-induced platelet aggregation, Impaired epi... OMIM:273800
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Recurrent bacterial infections, Neutropenia, Recurrent streptococcus pneumoniae infections, Recur... ORPHA:70592
Bleeding Disorder, Platelet-Type, 16
Anemia, Impaired platelet aggregation, Thrombocytopenia, Giant platelets, Platelet anisocytosis, ... OMIM:187800
Platelet Glycoprotein Iv Deficiency
Prolonged bleeding time, Thrombocytopenia, Giant platelets OMIM:608404
Ataxia-Pancytopenia Syndrome
Acute myelomonocytic leukemia, Abnormal macrophage morphology, Decreased circulating antibody lev... ORPHA:2585
Immunodeficiency 34
Recurrent mycobacterial infections, BCGosis, Pulmonary tuberculosis OMIM:300645
Glanzmann Thrombasthenia
Impaired collagen-related peptide-induced platelet aggregation, Impaired arachidonic acid-induced... ORPHA:849
Mannose-Binding Lectin Deficiency
Recurrent meningococcal disease, Recurrent Klebsiella infections, Recurrent herpes, Disseminated ... OMIM:614372
Complement Component 7 Deficiency
Recurrent meningococcal disease, Recurrent Neisserial infections OMIM:610102
Immunodeficiency 110 With Lymphoproliferation
Lymphopenia, Recurrent bacterial infections, Recurrent viral infections, Neutropenia, Recurrent f... OMIM:614868
Moyamoya Disease With Early-Onset Achalasia
Thrombocytopenia, Abnormal platelet aggregation ORPHA:401945
Bleeding Disorder, Platelet-Type, 13, Susceptibility To
Impaired thromboxane A2 agonist-induced platelet aggregation OMIM:614009
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Recurrent bacterial infections, Neutropenia, Recurrent respiratory infections, Recurrent otitis m... OMIM:616022
Thrombocytopenic Purpura, Autoimmune
Thrombocytopenia OMIM:188030
Immunodeficiency, Common Variable, 5
Chronic decreased circulating total IgG, Recurrent bacterial infections, Recurrent respiratory in... OMIM:613495
Agammaglobulinemia 2, Autosomal Recessive
Abnormal T cell morphology, Decreased circulating total IgM, Recurrent otitis media, Absent circu... OMIM:613500
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Anemia, Increased circulating antibody level, Acute monocytic leukemia, Recurrent bacterial infec... OMIM:202700
Thrombocytopenia 2
Thrombocytopenia, Leukocytosis OMIM:188000
Immunodeficiency 30
Recurrent mycobacterial infections, Recurrent infections OMIM:614891
Cernunnos-Xlf Deficiency
Anemia, T lymphocytopenia, B lymphocytopenia, Decreased circulating antibody level, Lymphopenia, ... ORPHA:169079
Agammaglobulinemia 3, Autosomal Recessive
Abnormal T cell morphology, Absent isohemagglutinin level, Recurrent bronchitis, Recurrent otitis... OMIM:613501
Eosinophilia, Familial
Anemia, Recurrent bronchitis, Leukocytosis, Eosinophilia, Thrombocytopenia OMIM:131400
Bleeding Disorder, Platelet-Type, 9
Thrombocytopenia OMIM:614200
Bleeding Disorder, Platelet-Type, 21
Impaired ADP-induced platelet aggregation, Impaired platelet aggregation, Recurrent viral infecti... OMIM:617443
Specific Granule Deficiency 1
Absent neutrophil specific granules, Hyposegmentation of neutrophil nuclei, Recurrent bacterial i... OMIM:245480
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Impaired ADP-induced platelet aggregation, Impaired epinephrine-induced platelet aggregation, Leu... OMIM:155100
Complement Component 8 Deficiency, Type Ii
Meningitis, Recurrent Neisserial infections OMIM:613789
Complement Factor D Deficiency
Recurrent bacterial infections OMIM:613912
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Elliptocytosis, Impaired platelet aggregation, Poikilocytosis, Anisocytosis, Bone marrow hypocell... OMIM:300835
Immunodeficiency, Common Variable, 3
Chronic decreased circulating total IgG, Decreased circulating total IgM, Reduced isohemagglutini... OMIM:613493
Immunodeficiency With Hyper-Igm, Type 4
Autoimmune thrombocytopenia, Impaired Ig class switch recombination, Autoimmune hemolytic anemia,... OMIM:608184
Wiskott-Aldrich Syndrome 2
Reduced natural killer cell activity, Defective T cell proliferation, Decreased proportion of CD8... OMIM:614493
Immunodeficiency 35
Recurrent mycobacterial infections, Recurrent viral infections, Recurrent respiratory infections,... OMIM:611521
Bleeding Disorder, Platelet-Type, 8
Impaired ADP-induced platelet aggregation OMIM:609821
Immunodeficiency With Hyper-Igm, Type 2
Complete or near-complete absence of specific antibody response to tetanus vaccine, Recurrent upp... OMIM:605258
Immunodeficiency 51
Recurrent cutaneous fungal infections, Chronic oral candidiasis, Recurrent Staphylococcus aureus ... OMIM:613953
Agammaglobulinemia 4, Autosomal Recessive
Abnormal T cell morphology, Decreased circulating total IgM, Recurrent otitis media, Recurrent pn... OMIM:613502
Complement Component 6 Deficiency
Recurrent meningococcal disease OMIM:612446
Granulomatous disease with defect in neutrophil chemotaxis
Impaired neutrophil killing of staphylococci, Recurrent staphylococcal infections OMIM:233670
Immunodeficiency 46
Anemia, Chronic oral candidiasis, Decreased circulating antibody level, Recurrent sinopulmonary i... OMIM:616740
Thrombocytopenia With Beta-Thalassemia, X-Linked
Splenomegaly, Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Prolonged blee... OMIM:314050
Immunodeficiency, Common Variable, 4
Decreased circulating total IgM, Recurrent sinusitis, Complete or near-complete absence of specif... OMIM:613494
Amegakaryocytic Thrombocytopenia, Congenital
Amegakaryocytic thrombocytopenia, Thrombocytopenia, Pancytopenia OMIM:604498
Immunodeficiency With Hyper-Igm, Type 3
Impaired Ig class switch recombination, Decreased circulating IgE, Recurrent bacterial infections... OMIM:606843
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant
Macrothrombocytopenia OMIM:619840
Cd8 Deficiency, Familial
Recurrent bacterial infections, Absence of CD8-positive T cells, Recurrent respiratory infections... OMIM:608957
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Leukopenia, Anemia, Increased circulating antibody level, Recurrent infections, Extramedullary he... OMIM:615285
Hermansky-Pudlak Syndrome 9
Thrombocytopenia, Abnormal platelet aggregation OMIM:614171
Immunodeficiency 12
Recurrent bacterial infections, Recurrent viral infections OMIM:615468
Immunodeficiency 81
Reduced natural killer cell activity, Impaired neutrophil chemotaxis, Reduced antigen-specific T ... OMIM:619374
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Anemia, Abnormal natural killer cell physiology, Decreased circulating antibody level, Recurrent ... OMIM:613101
Platelet Disorder, Familial, With Associated Myeloid Malignancy
Abnormal alpha granule content, Impaired platelet aggregation, Abnormal dense granule content, Pr... OMIM:601399
Neutrophil Actin Dysfunction
Recurrent bacterial infections OMIM:257150
Immunodeficiency 28
Recurrent mycobacterial infections OMIM:614889
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Amegakaryocytic thrombocytopenia ORPHA:71289
Hemoglobin D Disease
Anemia, Reduced alpha/beta synthesis ratio, HbS hemoglobin, Increased HbA2 hemoglobin, Reduced he... ORPHA:90039
Erythroleukemia, Familial, Susceptibility To
Acute myeloid leukemia, Anemia, Splenomegaly, Erythroid hyperplasia, Thrombocytopenia, Leukemia OMIM:133180
Niemann-Pick Disease, Type B
Sea-blue histiocytosis, Anemia, Hypertriglyceridemia, Increased LDL cholesterol concentration, De... OMIM:607616
Agammaglobulinemia 6, Autosomal Recessive
Abnormal T cell morphology, Decreased circulating total IgM, B lymphocytopenia, Recurrent bronchi... OMIM:612692
Beemer Lethal Malformation Syndrome
Thrombocytopenia OMIM:209970
Congenital Amegakaryocytic Thrombocytopenia
Anemia, Thrombocytopenia, Abnormal hemoglobin ORPHA:3319
Immunodeficiency By Defective Expression Of Mhc Class Ii
T lymphocytopenia, Recurrent Staphylococcus aureus infections, Decreased proportion of CD4-positi... ORPHA:572
Gray Platelet Syndrome
Abnormal number of alpha granules, Impaired collagen-induced platelet aggregation, Prolonged blee... OMIM:139090
Malaria
Elevated circulating C-reactive protein concentration, Anemia, Thrombocytopenia, Hyperbilirubinemia ORPHA:673
Anemia, Sideroblastic, 5
Anemia, Reduced hematocrit, Hypochromic microcytic anemia, Thrombocytopenia, Neutropenia OMIM:619523
Griscelli Syndrome, Type 2
Reduced delayed hypersensitivity, Recurrent bacterial infections, Hemophagocytosis, Hepatosplenom... OMIM:607624
Refractory Anemia
Neutropenia, Normocytic anemia, Erythroid hypoplasia, Bone marrow hypocellularity, Macrocytic ane... ORPHA:98826
Immunodeficiency, Common Variable, 13
B lymphocytopenia, Decreased circulating antibody level, Acute lymphoblastic leukemia, Pancytopen... OMIM:616873
Immunodeficiency 61
Decreased circulating total IgM, Decreased circulating IgG2 level, Recurrent sinusitis, Recurrent... OMIM:300310
Immunodeficiency 84
Persistent EBV viremia, Recurrent bacterial infections, Splenomegaly, B lymphocytopenia OMIM:619437
Quebec Platelet Disorder
Thrombocytopenia, Impaired epinephrine-induced platelet aggregation OMIM:601709
Ficolin 3 Deficiency
Recurrent lower respiratory tract infections, Recurrent abscess formation, Recurrent Staphylococc... OMIM:613860
Immunodeficiency 31A
Recurrent mycobacterium avium complex infections, Herpes simplex encephalitis, BCGitis, Recurrent... OMIM:614892
Immunodeficiency 38 With Basal Ganglia Calcification
Recurrent mycobacterial infections OMIM:616126
Acquired Idiopathic Sideroblastic Anemia
Acute myeloid leukemia, Neutropenia, Megaloblastic erythroid hyperplasia, Chronic infection, Norm... ORPHA:75564
Bone Marrow Failure Syndrome 2
Leukopenia, Anemia, Thrombocytopenia, Bone marrow hypocellularity OMIM:615715
Bernard-Soulier Syndrome
Thrombocytopenia, Giant platelets, Prolonged bleeding time, Macrothrombocytopenia, Impaired risto... OMIM:231200
Lymphoproliferative Syndrome, X-Linked, 1
Severe Epstein Barr virus infection, Infectious encephalitis, Recurrent respiratory infections, R... OMIM:308240
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Thrombocytopenia OMIM:166990
Bleeding Disorder, Platelet-Type, 19
Anemia, Thrombocytopenia, Macrothrombocytopenia OMIM:616176
Congenital Disorder Of Glycosylation, Type Iif
Decreased platelet glycoprotein Ib, Macrothrombocytopenia, Recurrent bacterial infections, Thromb... OMIM:603585
Sitosterolemia 1
Stomatocytosis, Hypercholesterolemia, Anemia, Reduced haptoglobin level, Impaired platelet aggreg... OMIM:210250
Von Willebrand Disease, Type 3
Prolonged bleeding time, Thrombocytopenia, Impaired platelet aggregation OMIM:277480
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Acute myeloid leukemia, Anemia, Pancytopenia, Bone marrow hypocellularity, Increased mean corpusc... OMIM:619041
Immunodeficiency 31B
Recurrent mycobacterial infections, Recurrent viral infections, Herpes simplex encephalitis OMIM:613796
Immunodeficiency 32B
Abnormal circulating IgG level, Anemia, Monocytopenia, BCGitis, Neutrophilia, Recurrent infection... OMIM:226990
Immunodeficiency With Hyper-Igm, Type 5
Recurrent upper and lower respiratory tract infections, Impaired Ig class switch recombination, R... OMIM:608106
Bleeding Disorder, Platelet-Type, 12
Impaired platelet aggregation OMIM:605735
Bleeding Disorder, Platelet-Type, 14
Prolonged bleeding time OMIM:614158
Immunodeficiency, Common Variable, 1
Decreased circulating total IgM, B lymphocytopenia, Neutropenia in presence of anti-neutropil ant... OMIM:607594
Lymphoproliferative Syndrome 1
Leukopenia, Anemia, Persistent EBV viremia, Decreased circulating antibody level, Pancytopenia, A... OMIM:613011
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Acute myeloid leukemia, Thrombocytopenia, Increased mean corpuscular volume OMIM:252270
Whim Syndrome 1
Decreased circulating antibody level, Recurrent bacterial infections, Recurrent upper respiratory... OMIM:193670
Adult Idiopathic Neutropenia
Monocytopenia, Lymphopenia, Recurrent bacterial infections, Abnormal neutrophil count, Helicobact... ORPHA:2688
Bleeding Disorder, Platelet-Type, 17
Impaired epinephrine-induced platelet aggregation, Macrothrombocytopenia, Increased RBC distribut... OMIM:187900
Thrombocytopenia 4
Thrombocytopenia, Abnormal platelet volume OMIM:612004
Immunodeficiency, Common Variable, 2
Recurrent bronchitis, Recurrent sinusitis, Recurrent otitis media, Recurrent pneumonia, Recurrent... OMIM:240500
Purine Nucleoside Phosphorylase Deficiency
Recurrent opportunistic infections, Recurrent urinary tract infections, Increased circulating ino... OMIM:613179
Hemangioma-Thrombocytopenia Syndrome
Microangiopathic hemolytic anemia, Thrombocytopenia, Hyperkalemia OMIM:141000
Immunodeficiency, Common Variable, 12, With Autoimmunity
Decreased circulating antibody level, Recurrent sinopulmonary infections, Recurrent sinusitis, Au... OMIM:616576
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Anemia, Congenital hemolytic anemia, Increased serum iron, Unconjugated hyperbilirubinemia, Eleva... ORPHA:766
Acute Myelomonocytic Leukemia
Leukocytosis, Anemia, Thrombocytopenia, Eosinophilia ORPHA:517
Hermansky-Pudlak Syndrome 3
Abnormal number of dense granules, Impaired platelet aggregation OMIM:614072
Bleeding Disorder, Platelet-Type, 15
Platelet anisocytosis, Thrombocytopenia, Increased mean platelet volume OMIM:615193
Hemophagocytic Lymphohistiocytosis, Familial, 4
Anemia, Hypertriglyceridemia, Increased circulating ferritin concentration, Hemophagocytosis, Thr... OMIM:603552
Bare Lymphocyte Syndrome, Type Ii
Panhypogammaglobulinemia, Recurrent urinary tract infections, Chronic mucocutaneous candidiasis, ... OMIM:209920
Preeclampsia/Eclampsia 1
Thrombocytopenia OMIM:189800
Immunodeficiency, Common Variable, 6
Chronic decreased circulating total IgG, Complete or near-complete absence of specific antibody r... OMIM:613496
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Recurrent opportunistic infections, Reduced natural killer cell count, Recurrent bacterial skin i... ORPHA:276
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Stomatocytosis, Splenomegaly, Impaired collagen-related peptide-induced platelet aggregation, Hem... OMIM:153670
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Abnormal natural killer cell count, Recurrent enteroviral infections, Decreased circulating total... ORPHA:331206
Fanconi Anemia, Complementation Group V
Anemia, Elevated circulating alpha-fetoprotein concentration, Bone marrow hypocellularity, Thromb... OMIM:617243
Omenn Syndrome
Anemia, Hypoplasia of the thymus, B lymphocytopenia, Recurrent viral infections, Severe B lymphoc... OMIM:603554
Thymic Aplasia
Hypocalcemic tetany, Opportunistic infection, T lymphocytopenia, Invasive fungal infection, Recur... ORPHA:83471
Immunodeficiency 33
Decreased circulating total IgM, Pneumocystis jirovecii pneumonia, Recurrent bacterial infections... OMIM:300636
X-Linked Severe Congenital Neutropenia
Recurrent bacterial infections, Neutropenia, Monocytopenia ORPHA:86788
Fanconi Anemia, Complementation Group G
Anemia, Thrombocytopenia, Neutropenia, Leukemia OMIM:614082
Transcobalamin Deficiency
Decreased circulating total IgM, Decreased circulating antibody level, Pancytopenia, Lymphopenia,... ORPHA:859
Hermansky-Pudlak Syndrome 7
Prolonged bleeding time, Impaired platelet aggregation OMIM:614076
Thrombocytopenia, Paris-Trousseau Type
Prolonged bleeding time, Thrombocytopenia OMIM:188025
Alpha-Thalassemia-Myelodysplastic Syndrome
Neutropenia, HbH hemoglobin, Thrombocytopenia, Acute leukemia, Splenomegaly, Microcytic anemia ORPHA:231401
Immunodeficiency 21
Reduced natural killer cell count, Anemia, Myeloid leukemia, Monocytopenia, B lymphocytopenia, Ly... OMIM:614172
Folate Malabsorption, Hereditary
Leukopenia, Recurrent infections, Thrombocytopenia, Neutropenia, Folate-responsive megaloblastic ... OMIM:229050
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive
Reduced natural killer cell count, Disseminated molluscum contagiosum, Decreased circulating tota... OMIM:243700
Bone Marrow Failure Syndrome 4
Leukopenia, Anemia, Decreased circulating antibody level, Bone marrow hypocellularity, Thrombocyt... OMIM:618116
Proteasome-Associated Autoinflammatory Syndrome 2
Increased CD4:CD8 ratio, B lymphocytopenia, Recurrent viral infections, Recurrent bacterial infec... OMIM:618048
Combined Immunodeficiency Due To Zap70 Deficiency
Recurrent mycobacterial infections, Recurrent opportunistic infections, Recurrent bacterial skin ... ORPHA:911
Slc35A1-Cdg
Abnormal platelet granules, Giant platelets, Prolonged bleeding time, Thrombocytopenia, Neutropenia ORPHA:238459
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Recurrent mycobacterial infections, Recurrent opportunistic infections, Chronic oral candidiasis,... ORPHA:275
Immunodeficiency 10
Recurrent bacterial infections, Autoimmune hemolytic anemia, Thrombocytopenia, Recurrent infections OMIM:612783
Autoinflammation With Infantile Enterocolitis
Reduced natural killer cell count, Anemia, Reduced natural killer cell activity, Pancytopenia, In... OMIM:616050
Dk Phocomelia Syndrome
Thrombocytopenia OMIM:223340
Specific Granule Deficiency 2
Anemia, Absent neutrophil specific granules, Recurrent otitis media, Recurrent pneumonia, Recurre... OMIM:617475
Agammaglobulinemia 9, Autosomal Recessive
Recurrent bacterial infections, Thrombocytopenia, Agammaglobulinemia, Absent circulating B cells OMIM:619693
Neutropenia, Severe Congenital, X-Linked
Recurrent bacterial infections, Decreased CD4:CD8 ratio, Monocytopenia, Neutropenia OMIM:300299
Fetal Parvovirus Syndrome
Anemia, Thrombocytopenia ORPHA:295
Chédiak-Higashi Syndrome
Hepatosplenomegaly, Recurrent staphylococcal infections, Hyponatremia, Thrombocytopenia, Abnormal... ORPHA:167
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Poikilocytosis, Anisocytosis, Hypochromic anemia, Macrothrombocytopenia, Anemia of inadequate pro... ORPHA:67044
Roch-Leri Mesosomatous Lipomatosis
Thrombocytopenia ORPHA:529
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency
Recurrent mycobacterial infections, Coccidioidomycosis, Severe toxoplasmosis, Tegumentary leishma... ORPHA:319552
Complement Component 3 Deficiency, Autosomal Recessive
Recurrent pneumonia, Recurrent bacterial infections, Recurrent tonsillitis OMIM:613779
Bilateral Striopallidodentate Calcinosis
Thrombocytopenia ORPHA:1980
Immunodeficiency With Hyper-Igm, Type 1
Meningitis, Thrombocytopenia, Impaired memory B cell generation, Splenomegaly, Sepsis, Decreased ... OMIM:308230
Leukocyte Adhesion Deficiency, Type Iii
Abnormality of thrombocytes, Anemia, Hepatosplenomegaly, Recurrent bacterial infections, Leukocyt... OMIM:612840
Combined Immunodeficiency Due To Crac Channel Dysfunction
Recurrent fungal infections, Recurrent mycobacterial infections, Hemolytic anemia, Recurrent vira... ORPHA:169090
Atypical Hemolytic Uremic Syndrome
Microangiopathic hemolytic anemia, Thrombocytopenia ORPHA:2134
Hemophagocytic Syndrome Associated With An Infection
Abnormal natural killer cell count, Abnormal T cell subset distribution, Anemia, Invasive fungal ... ORPHA:158048
Storage Pool Platelet Disease
Prolonged bleeding time, Decreased mean platelet volume OMIM:185050
Immunodeficiency 36 With Lymphoproliferation
Persistent EBV viremia, Chronic lymphatic leukemia, Increased proportion of transitional B cells,... OMIM:616005
Giant platelet syndrome with thrombocytopenia
Thrombocytopenia, Giant platelets OMIM:137560
Ataxia-Pancytopenia Syndrome
Acute myelomonocytic leukemia, Anemia, Pancytopenia, Thrombocytopenia, Neutropenia, Hypoplastic a... OMIM:159550
Gray Platelet Syndrome
Abnormality of thrombocytes, Thrombocytopenia, Splenomegaly ORPHA:721
Neutropenia, Severe Congenital, 3, Autosomal Recessive
Recurrent bacterial infections, Neutropenia, Acute lymphoblastic leukemia OMIM:610738
Hemophagocytic Lymphohistiocytosis, Familial, 1
Increased total bilirubin, Leukopenia, Anemia, Infectious encephalitis, Increased VLDL cholestero... OMIM:267700
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Anemia, Hypersplenism, Hypocholesterolemia, Thrombocytopenia, Splenomegaly OMIM:610539
Polycythemia Vera
Increased red blood cell mass, Increased hematocrit, Thrombocytosis, Leukocytosis, Thrombocytopen... OMIM:263300
Thrombocytopenia, Anemia, And Myelofibrosis
Anemia, Thrombocytopenia, Anisopoikilocytosis, Splenomegaly OMIM:617441
Immunodeficiency 97 With Autoinflammation
Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Hepatosplenomegaly, Eosinophilia,... OMIM:619802
Pontocerebellar Hypoplasia, Type 15
Chronic neutropenia, Thrombocytopenia, Anemia OMIM:619302
Hermansky-Pudlak Syndrome 5
Prolonged bleeding time, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Absent plat... OMIM:614074
Sea-Blue Histiocyte Disease
Sea-blue histiocytosis, Thrombocytopenia, Splenomegaly OMIM:269600
Fanconi Anemia, Complementation Group T
Acute myeloid leukemia, Anemia, Pancytopenia, Bone marrow hypocellularity, Thrombocytopenia OMIM:616435
Isolated Agammaglobulinemia
Anemia, Sepsis, Abnormality of neutrophils, Recurrent cutaneous abscess formation, Meningitis, Th... ORPHA:229717
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Acute myeloid leukemia, Anemia, Reduced natural killer cell count, Persistent EBV viremia, Hypert... ORPHA:158057
Refractory Anemia With Excess Blasts
Abnormal circulating albumin concentration, Acute myeloid leukemia, Chronic infection, Abnormal m... ORPHA:86839
Immunodeficiency 98 With Autoinflammation, X-Linked
Chronic oral candidiasis, B lymphocytopenia, Pneumocystis jirovecii pneumonia, Recurrent otitis m... OMIM:301078
Immunodeficiency 67
Recurrent staphylococcal infections, Increased circulating IgE level, Transient neutropenia, Recu... OMIM:607676
Nephrotic Syndrome, Type 7
Thrombocytopenia, Hemolytic anemia OMIM:615008
Idiopathic Aplastic Anemia
Anemia, Reticulocytopenia, Pancytopenia, Recurrent infections, Bone marrow hypocellularity, Throm... ORPHA:88
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Chronic oral candidiasis, B lymphocytopenia, Recurrent pneumonia, Abnormal CD4:CD8 ratio, Recurre... OMIM:150550
Thrombocytopenia 5
Anemia, Thrombocytopenia, Neutropenia OMIM:616216
Factor V Deficiency
Prolonged bleeding time, Prolonged prothrombin time OMIM:227400
Bleeding Disorder, Platelet-Type, 20
Thrombocytopenia OMIM:616913
Von Willebrand Disease, Type 2
Thrombocytopenia OMIM:613554
Forsythe-Wakeling Syndrome
Thrombocytopenia OMIM:613606
Hermansky-Pudlak Syndrome 2
Reduced natural killer cell count, Decreased CD4:CD8 ratio, Enlarged platelet dense granules, Chr... OMIM:608233
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Thrombocytopenia, Increased circulating IgA level OMIM:314000
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Anemia, Hyperammonemia, Thrombocytopenia, Neutropenia, Sepsis ORPHA:289916
Selective Igm Deficiency
Recurrent vulvovaginal candidiasis, Recurrent sinusitis, Decreased proportion of CD4-positive T c... ORPHA:331235
Aicardi-Goutieres Syndrome 3
Thrombocytopenia, Hepatosplenomegaly OMIM:610329
Von Willebrand Disease, Type 1
Prolonged bleeding time, Impaired platelet aggregation OMIM:193400
Aicardi-Goutieres Syndrome 6
Hemolytic anemia, Thrombocytopenia, Splenomegaly OMIM:615010
Autosomal Dominant Severe Congenital Neutropenia
Recurrent ear infections, Acute myeloid leukemia, Acute lymphoblastic leukemia, Recurrent sinopul... ORPHA:486
Deafness-Lymphedema-Leukemia Syndrome
Recurrent respiratory infections, Abnormal neutrophil count, Bone marrow hypocellularity, Leukocy... ORPHA:3226
Complement Factor H Deficiency
Recurrent bacterial infections OMIM:609814
Acquired Purpura Fulminans
Elevated circulating C-reactive protein concentration, Thrombocytopenia, Prolonged prothrombin ti... ORPHA:49566
Agammaglobulinemia 1, Autosomal Recessive
Panhypogammaglobulinemia, Recurrent respiratory infections, B lymphocytopenia, Decreased circulat... OMIM:601495
Pontocerebellar Hypoplasia, Type 14
Chronic neutropenia, Thrombocytopenia OMIM:619301
Babesiosis
Leukopenia, Hemolytic anemia, Recurrent pharyngitis, Recurrent infections, Thrombocytopenia, Sple... ORPHA:108
Hemophagocytic Lymphohistiocytosis, Familial, 2
Increased total bilirubin, Leukopenia, Anemia, Infectious encephalitis, Reduced natural killer ce... OMIM:603553
Transaldolase Deficiency
Anemia, Hepatosplenomegaly, Increased serum bile acid concentration, Abnormal circulating glutami... ORPHA:101028
Complement Factor B Deficiency
Recurrent meningococcal disease, Recurrent bacterial infections, Meningitis OMIM:615561
Aplasia Cutis Congenita
Prolonged bleeding time ORPHA:1114
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets
Decreased serum thromboxane B2, Impaired platelet aggregation, Iron deficiency anemia, Abnormal c... OMIM:618372
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Decreased CD4:CD8 ratio, Severe varicella zoster infection, Hemolytic anemia, T lymphocytopenia, ... OMIM:606367
Hermansky-Pudlak Syndrome 6
Prolonged bleeding time, Impaired ADP-induced platelet aggregation, Abnormal platelet granules OMIM:614075
Myh9-Related Disease
Giant platelets, Prolonged bleeding time, Congenital thrombocytopenia, Neutrophil inclusion bodie... ORPHA:182050
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Anemia, Thrombocytopenia, Congenital thrombocytopenia, Neutropenia OMIM:616738
Dehydrated Hereditary Stomatocytosis 2
Increased mean corpuscular hemoglobin concentration, Hemolytic anemia, Anisopoikilocytosis, Hyper... OMIM:616689
Wolfram Syndrome, Mitochondrial Form
Thrombocytopenia, Sideroblastic anemia, Megaloblastic anemia, Neutropenia OMIM:598500
Leishmaniasis
Leukopenia, Anemia, Abnormal macrophage morphology, Increased circulating antibody level, Pancyto... ORPHA:507
Chronic Myeloid Leukemia
Abnormal granulocyte morphology, Abnormal basophil morphology, Thrombocytosis, Leukocytosis, Myel... ORPHA:521
Wt Limb-Blood Syndrome
Thrombocytopenia, Leukemia, Pancytopenia, Hypoplastic anemia OMIM:194350
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia
Congenital thrombocytopenia, Anemia of inadequate production, Acanthocytosis, Poikilocytosis OMIM:300367
Leukocyte Adhesion Deficiency, Type I
Recurrent gram-negative bacterial infections, Chronic mucocutaneous candidiasis, Recurrent staphy... OMIM:116920
Thrombotic Thrombocytopenic Purpura
Thrombocytopenia, Microangiopathic hemolytic anemia, Decreased serum creatinine, Reticulocytosis ORPHA:54057
Wiskott-Aldrich Syndrome
Anemia, Sepsis, Hypoplasia of the thymus, Hemolytic anemia, Recurrent respiratory infections, Abn... ORPHA:906
Beta-Thalassemia
Anemia, Abnormality of iron homeostasis, Thrombocytopenia, Abnormal hemoglobin, Splenomegaly, Mic... ORPHA:848
Relapsing Fever
Increased total bilirubin, Leukopenia, Anemia, Neutrophilia, Prolonged prothrombin time, Leukocyt... ORPHA:91547
Immunodeficiency 91 And Hyperinflammation
Extrapulmonary tuberculosis, Neutrophilia, Severe viral infection, Hepatosplenomegaly, BCGosis, R... OMIM:619644
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Thrombocytopenia, Sideroblastic anemia OMIM:617021
Preeclampsia
Elevated circulating creatinine concentration, Thrombocytopenia, Helicobacter pylori infection ORPHA:275555
Hepatoportal Sclerosis
Leukopenia, Anemia, Hypersplenism, Hyperbilirubinemia, Prolonged prothrombin time, Recurrent infe... ORPHA:64743
Phosphoglycerate Dehydrogenase Deficiency
Thrombocytopenia, Megaloblastic anemia OMIM:601815
Diffuse Neonatal Hemangiomatosis
Anemia, Thrombocytopenia, Hypercalcemia ORPHA:2123
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Decreased circulating total IgM, B lymphocytopenia, Absent specific antibody response, Decreased ... OMIM:102700
Felty Syndrome
Anemia, Sepsis, Recurrent respiratory infections, Recurrent urinary tract infections, Recurrent p... ORPHA:47612
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant
Recurrent Staphylococcus aureus infections, Recurrent sinopulmonary infections, Chronic mucocutan... OMIM:147060
Congenital Disorder Of Glycosylation, Type Iik
Thrombocytopenia, Elevated circulating creatine kinase concentration OMIM:614727
Bernard-Soulier Syndrome
Decreased platelet glycoprotein Ib-IX-V, Macrothrombocytopenia, Impaired ristocetin-induced plate... ORPHA:274
Sengers Syndrome
Thrombocytopenia OMIM:212350
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Anemia, Microangiopathic hemolytic anemia, Increased blood urea nitrogen, Elevated circulating cr... OMIM:612924
Iron-Refractory Iron Deficiency Anemia
Hypochromic microcytic anemia, Anisocytosis, Elevated circulating hepcidin concentration, Poikilo... OMIM:206200
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Anemia, Microangiopathic hemolytic anemia, Increased blood urea nitrogen, Elevated circulating cr... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Anemia, Microangiopathic hemolytic anemia, Increased blood urea nitrogen, Elevated circulating cr... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Anemia, Microangiopathic hemolytic anemia, Increased blood urea nitrogen, Elevated circulating cr... OMIM:612926
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Recurrent ear infections, Abnormal natural killer cell count, Anemia, Panhypogammaglobulinemia, T... ORPHA:79124
Ghosal Hematodiaphyseal Dysplasia
Leukopenia, Thrombocytopenia, Bone marrow hypocellularity, Refractory anemia OMIM:231095
Immunodeficiency 27B
Recurrent mycobacterial infections, Recurrent mycobacterium avium complex infections OMIM:615978
Dyskeratosis Congenita, Autosomal Recessive 2
Recurrent opportunistic infections, Thrombocytopenia, Bone marrow hypocellularity, Pancytopenia OMIM:613987
Intermediate Osteopetrosis
Anemia, Chronic infection, Hypocalcemia, Hepatosplenomegaly, Thrombocytopenia ORPHA:210110
Vitamin B12-Unresponsive Methylmalonic Acidemia
Leukopenia, Anemia, Hyperammonemia, Macrocytic anemia, Thrombocytopenia ORPHA:27
Hereditary Folate Malabsorption
Megaloblastic anemia, Recurrent urinary tract infections, Decreased circulating antibody level, P... ORPHA:90045
Immunodeficiency 22
Anemia, Chronic oral candidiasis, Decreased circulating total IgM, Decreased circulating IgE, Rec... OMIM:615758
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Thrombocytopenia, Hemolytic anemia, Lymphopenia OMIM:616744
Systemic Lupus Erythematosus 17
Leukopenia, Thrombocytopenia, Lymphopenia, Autoimmune thrombocytopenia OMIM:301080
X-Linked Agammaglobulinemia
Anemia, Hypocalcemia, Recurrent cutaneous abscess formation, Recurrent pneumonia, Agammaglobuline... ORPHA:47
Gamma-Heavy Chain Disease
Anemia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Thrombocytopenia, Recurrent res... ORPHA:100026
Amed Syndrome, Digenic
Acute myeloid leukemia, Leukopenia, Anemia, Bone marrow hypocellularity, Thrombocytopenia OMIM:619151
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Enteroviral dermatomyositis syndrome, Panhypogammaglobulinemia, Recurrent urinary tract infection... OMIM:307200
Pgm3-Cdg
T lymphocytopenia, Reduced antigen-specific T cell proliferation, Bone marrow hypocellularity, Eo... ORPHA:443811
Drug-Induced Lupus Erythematosus
Anemia, Elevated circulating creatine kinase concentration, Increased blood urea nitrogen, Elevat... ORPHA:231111
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Recurrent bacterial skin infections, Recurrent Serratia marcescens infections, Recurrent Staphylo... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Recurrent bacterial skin infections, Recurrent Serratia marcescens infections, Recurrent Staphylo... OMIM:233710
Cog4-Cdg
Neonatal sepsis, Hepatosplenomegaly, Recurrent upper respiratory tract infections, Hypercholester... ORPHA:263501
Thyrocerebrorenal Syndrome
Thrombocytopenia ORPHA:3327
Macrophage Activation Syndrome
Abnormal natural killer cell count, Anemia, Hypertriglyceridemia, Increased circulating ferritin ... ORPHA:158061
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Anemia, Hyperammonemia, Thrombocytopenia, Neutropenia, Splenomegaly ORPHA:79312
Wiskott-Aldrich Syndrome
Recurrent sinusitis, Eosinophilia, Decreased proportion of CD4-positive helper T cells, Prolonged... OMIM:301000
Autoimmune Lymphoproliferative Syndrome, Type Iia
Increased B cell count, Coombs-positive hemolytic anemia, Neutropenia in presence of anti-neutrop... OMIM:603909
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Anemia, Microangiopathic hemolytic anemia, Increased blood urea nitrogen, Elevated circulating cr... OMIM:612925
Non-Involuting Congenital Hemangioma
Thrombocytopenia ORPHA:141179
Osteopetrosis, Autosomal Recessive 8
Anemia, Thrombocytopenia, Splenomegaly OMIM:615085
Hermansky-Pudlak Syndrome 11
Impaired collagen-induced platelet aggregation, Reduced platelet dense granules OMIM:619172
Congenital Enterovirus Infection
Leukopenia, Anemia, Infectious encephalitis, Abnormal macrophage morphology, Hyperammonemia, Meni... ORPHA:292
Immunodeficiency, Common Variable, 8, With Autoimmunity
Chronic neutropenia, Decreased circulating total IgM, B lymphocytopenia, Decreased specific antib... OMIM:614700
Imerslund-Gräsbeck Syndrome
Megaloblastic anemia, Anisopoikilocytosis, Abnormal hemoglobin concentration, Reticulocytosis, Pa... ORPHA:35858
3-Methylglutaconic Aciduria Type 4
Thrombocytopenia ORPHA:67048
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness
Recurrent bronchitis, Recurrent Haemophilus influenzae infections OMIM:300455
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Recurrent bacterial skin infections, Recurrent Serratia marcescens infections, Recurrent Staphylo... OMIM:233690
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Leukopenia, Anemia, Hypoplasia of the thymus, Recurrent respiratory infections, Recurrent lower r... OMIM:612541
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome
Thrombocytopenia, Increased circulating ferritin concentration, Bone marrow hypocellularity, Hepa... ORPHA:210136
Isovaleric Acidemia
Leukopenia, Thrombocytopenia, Bone marrow hypocellularity, Pancytopenia OMIM:243500
Immunodeficiency 40
Severe varicella zoster infection, T lymphocytopenia, Chronic oral candidiasis, Reduced antigen-s... OMIM:616433
Wolfram Syndrome 2
Impaired collagen-induced platelet aggregation, Decreased circulating antibody level OMIM:604928
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Recurrent shingles, Decreased circulating IgG level, Severe infection, Decreased specific pneumoc... ORPHA:183675
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Anemia, Severe infection, Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Eosinoph... OMIM:304790
Mirage Syndrome
Leukopenia, Anemia, Recurrent urinary tract infections, Hyperkalemia, Lymphopenia, Recurrent bact... OMIM:617053
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Leukopenia, Anemia, Hyperuricemia, Pancytopenia, Increased blood urea nitrogen, Hyponatremia, Thr... OMIM:613845
Osteopetrosis, Autosomal Recessive 4
Anemia, Thrombocytopenia, Splenomegaly, Reticulocytosis OMIM:611490
Rapidly Involuting Congenital Hemangioma
Thrombocytopenia ORPHA:141184
Rhabdoid Tumor
Thrombocytopenia, Hypercalcemia, Anemia ORPHA:69077
Autoerythrocyte Sensitization Syndrome
Abnormal erythrocyte morphology, Impaired platelet adhesion, Thrombocytosis, Autoimmune thrombocy... ORPHA:324636
Aicardi-Goutieres Syndrome 4
Thrombocytopenia, Splenomegaly, Pancytopenia, Hepatosplenomegaly OMIM:610333
Congenital Toxoplasmosis
Thrombocytopenia, Anemia ORPHA:858
Pelger-Huet Anomaly
Hyposegmentation of neutrophil nuclei, Abnormality of neutrophils, Recurrent otitis media, Giant ... OMIM:169400
Immunodeficiency 23
Persistent EBV viremia, Severe varicella zoster infection, Hemolytic anemia, Recurrent respirator... OMIM:615816
Tularemia
Anemia, Brain abscess, Increased circulating antibody level, Meningitis, Leukocytosis, Thrombocyt... ORPHA:3392
Primary Myelofibrosis
Anemia, Pancytopenia, Hepatosplenomegaly, Poikilocytosis, Thrombocytosis, Leukocytosis, Extramedu... ORPHA:824
Stuve-Wiedemann Syndrome 2
Thrombocytopenia OMIM:619751
Portal Hypertension, Noncirrhotic, 2
Thrombocytopenia, Recurrent infections, Splenomegaly OMIM:619463
Thyrocerebroretinal Syndrome
Thrombocytopenia OMIM:274240
Gaucher Disease, Type Iii
Thrombocytopenia, Splenomegaly, Pancytopenia OMIM:231000
Chediak-Higashi Syndrome
Recurrent systemic pyogenic infections, Leukopenia, Anemia, Recurrent bacterial skin infections, ... OMIM:214500
Shwachman-Diamond Syndrome
Acute myeloid leukemia, Chronic neutropenia, Leukopenia, Anemia, Neutropenia, Hypoamylasemia, Imp... ORPHA:811
Systemic Lupus Erythematosus
Leukopenia, Thrombocytopenia, Hemolytic anemia OMIM:152700
Thiamine-Responsive Megaloblastic Anemia Syndrome
Thrombocytopenia, Megaloblastic anemia ORPHA:49827
Kenny-Caffey Syndrome, Type 1
Recurrent bacterial infections, Anemia, Hypocalcemia, Hypomagnesemia OMIM:244460
Familial Hemophagocytic Lymphohistiocytosis
Anemia, Hypertriglyceridemia, Infectious encephalitis, Reduced natural killer cell activity, Decr... ORPHA:540
Blue Rubber Bleb Nevus
Prolonged bleeding time ORPHA:1059
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Methylmalonic acidemia, Hyperhomocystinemia, Hypomethioninemia, Elevated circulating propionylcar... OMIM:614857
Noonan Syndrome 12
Thrombocytopenia, Lymphopenia OMIM:618624
Immunodeficiency 47
Leukopenia, Chronic decreased circulating total IgG, Decreased circulating total IgM, Decreased c... OMIM:300972
Cyclic Neutropenia
Opportunistic infection, Severe infection, Decreased eosinophil count, Lymphopenia, Cyclic neutro... ORPHA:2686
Thiamine-Responsive Megaloblastic Anemia Syndrome
Thrombocytopenia, Sideroblastic anemia, Thiamine-responsive megaloblastic anemia OMIM:249270
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Increased mean corpuscular volume, Thrombocytopenia, Megaloblastic anemia, Pancytopenia OMIM:613839
Tufted Angioma
Anemia, Thrombocytopenia ORPHA:1063
Prothrombin Deficiency, Congenital
Prolonged bleeding time, Prolonged prothrombin time OMIM:613679
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Microangiopathic hemolytic anemia, Reticulocytosis, Increased blood urea nitrogen, Schistocytosis... OMIM:235400
Neurofibromatosis-Noonan Syndrome
Prolonged bleeding time ORPHA:638
Ectodermal Dysplasia And Immunodeficiency 1
Abnormal circulating IgG level, Reduced natural killer cell activity, Recurrent bacterial infecti... OMIM:300291
Good Syndrome
Anemia, Recurrent respiratory infections, Recurrent urinary tract infections, Decreased circulati... ORPHA:169105
Prolidase Deficiency
Anemia, Increased circulating antibody level, Recurrent pneumonia, Recurrent infections, Thromboc... OMIM:170100
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Anemia, Megaloblastic anemia, Cystathioninemia, Methylmalonic acidemia, Hyperhomocystinemia, Panc... OMIM:277380
Sickle Cell Disease
Splenomegaly, Hemolytic anemia, Target cells, Splenic infarction, Recurrent bacterial infections,... OMIM:603903
Moyamoya Disease 6 With Or Without Achalasia
Thrombocytopenia OMIM:615750
Stormorken Syndrome
Asplenia, Anemia, Howell-Jolly bodies, Elevated circulating creatine kinase concentration, Thromb... OMIM:185070
Avian Influenza
Leukopenia, Infectious encephalitis, Lymphopenia, Elevated circulating creatine kinase concentrat... ORPHA:454836
Thrombotic Thrombocytopenic Purpura, Hereditary
Microangiopathic hemolytic anemia, Reticulocytosis, Increased blood urea nitrogen, Schistocytosis... OMIM:274150
Proteasome-Associated Autoinflammatory Syndrome 3
Anemia, Increased circulating antibody level, Lymphopenia, Recurrent infections, Thrombocytopenia... OMIM:617591
Complement Component 5 Deficiency
Recurrent meningococcal disease, Recurrent Neisserial infections OMIM:609536
Essential Thrombocythemia
Prolonged bleeding time, Abnormal platelet morphology, Abnormality of thrombocytes ORPHA:3318
Methylmalonic Aciduria, Cblb Type
Anemia, Hyperglycinemia, Methylmalonic acidemia, Pancytopenia, Hyperammonemia, Thrombocytopenia, ... OMIM:251110
Aregenerative Anemia
Reticulocytopenia, Abnormal proportion of CD8-positive T cells, Erythroid hypoplasia, Pancytopeni... ORPHA:101096
Mevalonic Aciduria
Anemia, Increased circulating IgD level, Hepatosplenomegaly, Elevated circulating creatine kinase... OMIM:610377
Pseudo-Torch Syndrome 3
Anemia, Congenital thrombocytopenia, Increased circulating ferritin concentration, Leukocytosis OMIM:618886
Propionic Acidemia
Anemia, Hyperglycinemia, Pancytopenia, Hyperammonemia, Thrombocytopenia, Neutropenia OMIM:606054
Acyl-Coa Dehydrogenase 9 Deficiency
Elevated circulating acylcarnitine concentration, Decreased plasma carnitine, Elevated creatine k... ORPHA:99901
Aicardi-Goutieres Syndrome 5
Thrombocytopenia OMIM:612952
Mucopolysaccharidosis-Plus Syndrome
Leukopenia, Anemia, Recurrent respiratory infections, Recurrent bronchopulmonary infections, Recu... OMIM:617303
Griscelli Syndrome
Leukopenia, Abnormal circulating lipid concentration, Decreased circulating antibody level, Abnor... ORPHA:381
Congenital Disorder Of Glycosylation, Type Iil
Pancytopenia, Elevated circulating creatine kinase concentration, Impaired T cell function, Recur... OMIM:614576
Aggressive Systemic Mastocytosis
Anemia, Hypersplenism, Pancytopenia, Hepatosplenomegaly, Increased proportion of CD25+ mast cells... ORPHA:98850
Congenital Disorder Of Glycosylation, Type Ih
Elevated circulating creatinine concentration, Thrombocytopenia, Anemia, Hypoalbuminemia OMIM:608104
Complement Factor I Deficiency
Recurrent Haemophilus influenzae infections, Recurrent urinary tract infections, Recurrent mening... OMIM:610984
Sea-Blue Histiocytosis
Sea-blue histiocytosis, Thrombocytopenia, Splenomegaly ORPHA:158029
Methylmalonic Aciduria, Cbla Type
Anemia, Hyperglycinemia, Methylmalonic acidemia, Pancytopenia, Hyperammonemia, Thrombocytopenia, ... OMIM:251100
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Leukopenia, Hyperglycinemia, Methylmalonic acidemia, Hyperammonemia, Thrombocytopenia, Neutropenia OMIM:251000
Congenital Rubella Syndrome
Thrombocytopenia, Splenomegaly, Anemia ORPHA:290
Leukocyte Adhesion Deficiency
Recurrent fungal infections, Acute myeloid leukemia, Chronic oral candidiasis, Recurrent urinary ... ORPHA:2968
Neonatal Lupus Erythematosus
Anemia, Neutropenia, Hemolytic anemia, Pancytopenia, Thrombocytopenia, Aplastic anemia, Splenomegaly ORPHA:398124
Lysosomal Acid Lipase Deficiency
Leukopenia, Anemia, Hypersplenism, Hepatosplenomegaly, Increased LDL cholesterol concentration, D... OMIM:278000
Combined Immunodeficiency With Faciooculoskeletal Anomalies
Recurrent ear infections, Abnormal T cell subset distribution, Reduced natural killer cell count,... ORPHA:221139
Braddock-Carey Syndrome 2
Thrombocytopenia OMIM:619981
Immune Thrombocytopenia
Thrombocytopenia ORPHA:3002
Immunodeficiency 87 And Autoimmunity
Recurrent fungal infections, Persistent EBV viremia, Hypertriglyceridemia, Decreased CD4:CD8 rati... OMIM:619573
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Lymphocytosis, Recurrent pneumonia, Meningitis, Recurrent infections, Elevated circulating C-reac... OMIM:617718
Shwachman-Diamond Syndrome 2
Normocytic anemia, Recurrent infections, Prolonged prothrombin time, Thrombocytopenia, Neutropenia OMIM:617941
Bacterial Toxic-Shock Syndrome
Severe varicella zoster infection, Infectious encephalitis, Severe infection, Recurrent urinary t... ORPHA:36234
Thrombocytopenia 3
Thrombocytopenia, Decreased mean platelet volume OMIM:273900
Stt3B-Cdg
Thrombocytopenia ORPHA:370924
Letterer-Siwe Disease
Thrombocytopenia, Anemia, Neutropenia, Hepatosplenomegaly OMIM:246400
Osteopetrosis, Autosomal Recessive 2
Anemia, Pancytopenia, Hepatosplenomegaly, Extramedullary hematopoiesis, Thrombocytopenia OMIM:259710
Granulomatous Disease, Chronic, X-Linked
Recurrent bacterial skin infections, Recurrent Serratia marcescens infections, Recurrent Staphylo... OMIM:306400
Vexas Syndrome
Thrombocytopenia, Elevated circulating C-reactive protein concentration, Macrocytic anemia OMIM:301054
Acute Promyelocytic Leukemia
Leukopenia, Anemia, Chronic infection, Pancytopenia, Leukocytosis, Thrombocytopenia, Neutropenia ORPHA:520
Dengue Fever
Leukopenia, Thrombocytopenia, Hypoproteinemia ORPHA:99828
Congenital Disorder Of Glycosylation, Type Ix
Thrombocytopenia OMIM:615597
Sepsis In Premature Infants
Anemia, Severe infection, Neonatal sepsis, Disseminated viral infection, Meningitis, Elevated cir... ORPHA:90051
Kasabach-Merritt Syndrome
Leukopenia, Anemia, Microangiopathic hemolytic anemia, Reticulocytosis, Prolonged prothrombin tim... ORPHA:2330
Zika Virus Disease
Infectious encephalitis, Thrombocytopenia, Meningitis, Increased circulating IgM level ORPHA:448237
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Leukopenia, Anemia, Reticulocytopenia, B lymphocytopenia, Lymphopenia, Recurrent upper respirator... ORPHA:508542
Diffuse Alveolar Hemorrhage
Anemia, Thrombocytopenia, Elevated circulating creatinine concentration, Leukocytosis ORPHA:90060
Vici Syndrome
Leukopenia, T lymphocytopenia, Recurrent respiratory infections, Decreased T cell activation, Dec... OMIM:242840
Hermansky-Pudlak Syndrome 8
Impaired platelet aggregation OMIM:614077
Lysinuric Protein Intolerance
Hepatosplenomegaly, Hypercholesterolemia, Thrombocytopenia, Increased serum zinc, Hyperalaninemia... ORPHA:470
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Hypochromic microcytic anemia, Thrombocytopenia, Increased circulating ferritin concentration ORPHA:3240
Fetal Gaucher Disease
Abnormality of the spleen, Thrombocytopenia, Splenomegaly, Pancytopenia ORPHA:85212
Overlap Myositis
Leukopenia, Abnormal circulating lipid concentration, Severe infection, Elevated circulating crea... ORPHA:206572
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency
Thrombocytopenia, Neutropenia, Bone marrow hypocellularity, Anemia OMIM:614520
3-Methylglutaconic Aciduria, Type Viib
Leukopenia, Recurrent pneumonia, Recurrent infections, Prolonged prothrombin time, Thrombocytopen... OMIM:616271
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Anemia, Elevated circulating creatine kinase concentration, Recurrent bacterial infections, Hypop... OMIM:615895
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Thrombocytopenia, Increased mean platelet volume OMIM:300048
Schimke Immunoosseous Dysplasia
Anemia, Abnormal T cell morphology, Decreased circulating antibody level, Lymphopenia, Pancytopen... OMIM:242900
Alg12-Cdg
Recurrent ear infections, Abnormal circulating IgG level, Partial absence of specific antibody re... ORPHA:79324
Shwachman-Diamond Syndrome 1
Acute myeloid leukemia, Anemia, Pancytopenia, Persistence of hemoglobin F, Recurrent infections, ... OMIM:260400
Necrotizing Enterocolitis
Neonatal sepsis, Leukocytosis, Hyponatremia, Thrombocytopenia, Neutropenia ORPHA:391673
Pearson Marrow-Pancreas Syndrome
Anemia, Reticulocytopenia, Hyperbilirubinemia, Refractory sideroblastic anemia, Sideroblastic ane... OMIM:557000
Schimke Immuno-Osseous Dysplasia
Anemia, Lymphopenia, Impaired T cell function, Recurrent infections, Bone marrow hypocellularity,... ORPHA:1830
Holocarboxylase Synthetase Deficiency
Thrombocytopenia, Hyperammonemia ORPHA:79242
Pseudohypoparathyroidism Type 1A
Hypocalcemic tetany, Hyperphosphatemia, Calcinosis, Abnormal platelet function, Hypocalcemic seiz... ORPHA:79443
Lig4 Syndrome
Thrombocytopenia, Pancytopenia OMIM:606593
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1
Amegakaryocytic thrombocytopenia, Congenital thrombocytopenia, Aplastic anemia OMIM:605432
Mgat2-Cdg
Decreased circulating antibody level, Impaired platelet aggregation, Decreased circulating IgG level ORPHA:79329
Osteopetrosis, Autosomal Recessive 1
Anemia, Hypocalcemia, Pancytopenia, Thrombocytopenia, Splenomegaly OMIM:259700
Systemic Mastocytosis With Associated Hematologic Neoplasm
Acute myeloid leukemia, Myeloid leukemia, Increased basophil count, Chronic lymphatic leukemia, C... ORPHA:98849
Thrombocytopenia 1
Increased circulating IgE level, Increased circulating IgA level, Congenital thrombocytopenia, De... OMIM:313900
Gaucher Disease, Type I
Anemia, Hypersplenism, Pancytopenia, Thrombocytopenia, Splenomegaly OMIM:230800
Neurodevelopmental Disorder With Hearing Loss, Seizures, And Brain Abnormalities
Thrombocytopenia OMIM:616577
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Thrombocytopenia, Normochromic anemia, Elevated circulating creatine kinase concentration OMIM:618775
Boutonneuse Fever
Leukopenia, Thrombocytopenia, Increased circulating IgG level, Increased circulating IgM level ORPHA:83313
Wolfram Syndrome 1
Thrombocytopenia, Sideroblastic anemia, Megaloblastic anemia OMIM:222300
Postinfectious Vasculitis
Recurrent mycobacterial infections, Severe Epstein Barr virus infection, Severe varicella zoster ... ORPHA:48435
Whim Syndrome
Abnormality of neutrophil morphology, Decreased circulating antibody level, Lymphopenia, Recurren... ORPHA:51636
Ebola Hemorrhagic Fever
Leukopenia, Increased circulating antibody level, Lymphopenia, Thrombocytopenia, Sepsis ORPHA:319218
Transaldolase Deficiency
Anemia, Pancytopenia, Hepatosplenomegaly, Thrombocytopenia, Splenomegaly OMIM:606003
Alg8-Cdg
Thrombocytopenia, Anemia, Hyponatremia ORPHA:79325
Hoyeraal-Hreidarsson Syndrome
Thrombocytopenia, Abnormal leukocyte morphology, Bone marrow hypocellularity, Anemia ORPHA:3322
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Infectious encephalitis, T lymphocytopenia, B lymphocytopenia, Neutropenia in presence of anti-ne... ORPHA:391487
Thrombocytopenia 6
Thrombocytopenia OMIM:616937
Combined Oxidative Phosphorylation Deficiency 55
Anemia, Hypophosphatemia, Elevated circulating creatine kinase concentration, Mildly elevated cre... OMIM:619743
Snakebite Envenomation
Thrombocytopenia, Hyponatremia ORPHA:449285
Hemophilia B
Prolonged bleeding time ORPHA:98879
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Thrombocytopenia, Leukocytosis, Hyponatremia ORPHA:83601
Hellp Syndrome
Hemolytic anemia, Microangiopathic hemolytic anemia, Decreased mean corpuscular hemoglobin concen... ORPHA:244242
Congenital Erythropoietic Porphyria
Reduced haptoglobin level, Leukopenia, Recurrent bacterial skin infections, Abnormal circulating ... ORPHA:79277
Combined Oxidative Phosphorylation Deficiency 14
Thrombocytopenia, Anemia, Elevated hepatic iron concentration OMIM:614946
Blue Rubber Bleb Nevus
Iron deficiency anemia, Thrombocytopenia OMIM:112200
Dyskeratosis Congenita, Autosomal Dominant 1
Leukopenia, Anemia, Lymphopenia, Bone marrow hypocellularity, Increased mean corpuscular volume, ... OMIM:127550
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Recurrent bacterial infections, Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures OMIM:241410
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Unconjugated hyperbilirubinemia, Microangiopathic hemolytic anemia, Hypokalemia, Reticulocytosis,... ORPHA:90038
Dyskeratosis Congenita, Autosomal Dominant 2
Leukopenia, Pancytopenia, Thrombocytopenia, Bone marrow hypocellularity, Aplastic anemia, Neutrop... OMIM:613989
Beemer-Ertbruggen Syndrome
Thrombocytopenia ORPHA:1237
Gaucher Disease Type 1
Leukopenia, Anemia, Increased circulating antibody level, Hypersplenism, Pancytopenia, Thrombocyt... ORPHA:77259
Wilson Disease
Thrombocytopenia, Splenomegaly, Anemia ORPHA:905
Noonan Syndrome
Abnormality of the spleen, Abnormal platelet function ORPHA:648
Smith-Kingsmore Syndrome
Thrombocytopenia, Decreased circulating IgA level OMIM:616638
Osteopetrosis, Autosomal Recessive 5
Anemia, Hyperbilirubinemia, Hypocalcemia, Pancytopenia, Hepatosplenomegaly, Hypochromic microcyti... OMIM:259720
Hypocomplementemic Urticarial Vasculitis
Recurrent bacterial infections, Meningitis, Splenomegaly ORPHA:36412
Idiopathic Bronchiectasis
Recurrent lower respiratory tract infections, Recurrent Haemophilus influenzae infections ORPHA:60033
Congenital Disorder Of Glycosylation, Type Iig
Thrombocytopenia, Recurrent infections, Anemia, Giant platelets OMIM:611209
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Leukopenia, Anemia, Recurrent gastroenteritis, Hepatosplenomegaly, Bone marrow hypocellularity, I... ORPHA:505248
Neuroleptic Malignant Syndrome
Hyperphosphatemia, Hyperuricemia, Hypocalcemia, Hyperkalemia, Elevated circulating creatine kinas... ORPHA:94093
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hyperbilirubinemia, Elevated circulating alpha-fetoprotein concentration, Thrombocytopenia, Splen... OMIM:251880
Braddock-Carey Syndrome 1
Thrombocytopenia OMIM:619980
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures
Thrombocytopenia OMIM:617710
Fanconi Anemia, Complementation Group E
Anemia, Reticulocytopenia, Pancytopenia, Thrombocytopenia, Neutropenia, Leukemia OMIM:600901
Castleman Disease
Decreased mean corpuscular volume, Thrombocytopenia, Elevated circulating C-reactive protein conc... ORPHA:160
Mannosidosis, Alpha B, Lysosomal
Recurrent bacterial infections, Vacuolated lymphocytes, Splenomegaly, Decreased circulating antib... OMIM:248500
Paroxysmal Nocturnal Hemoglobinuria
Reduced haptoglobin level, Leukopenia, Anemia, Hemolytic anemia, Unconjugated hyperbilirubinemia,... ORPHA:447
Nijmegen Breakage Syndrome
T lymphocytopenia, B lymphocytopenia, Recurrent urinary tract infections, Recurrent bronchitis, R... OMIM:251260
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Thrombocytopenia, Normochromic anemia, Hypoalbuminemia OMIM:254900
Gaucher Disease, Type Ii
Thrombocytopenia, Bronchiolitis, Splenomegaly, Anemia OMIM:230900
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Leukopenia, Thrombocytopenia, Elevated circulating creatine kinase concentration OMIM:301056
Fanconi Anemia, Complementation Group A
Anemia, Reticulocytopenia, Pancytopenia, Thrombocytopenia, Neutropenia, Leukemia OMIM:227650
Holocarboxylase Synthetase Deficiency
Thrombocytopenia, Hyperammonemia OMIM:253270
Blackfan-Diamond Anemia
Acute myeloid leukemia, Leukopenia, Reticulocytopenia, Pure red cell aplasia, Erythroid hypoplasi... ORPHA:124
Shigellosis
Microangiopathic hemolytic anemia, Abnormal blood ion concentration, Leukocytosis, Hyponatremia, ... ORPHA:810
Lysinuric Protein Intolerance
Leukopenia, Anemia, Intraalveolar phospholipid accumulation, Increased circulating ferritin conce... OMIM:222700
Dyskeratosis Congenita, Autosomal Dominant 3
Leukopenia, Pancytopenia, Bone marrow hypocellularity, Thrombocytopenia, Aplastic anemia OMIM:613990
Arthrogryposis, Renal Dysfunction, And Cholestasis 1