Gene Summary

Name:
AT rich interactive domain 4A (RBP1-like)
Synonyms:
A630067N03Rik,  Rbbp1

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
preweaning lethality, incomplete penetrance Arid4atm1a(EUCOMM)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 N/A heterozygote 0.0% (0 of 2)
Aorta N/A heterozygote Not available
Blood vessel N/A heterozygote 0.0% (0 of 2)
Bone N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 100% (2 of 2)
Brainstem N/A heterozygote Not available
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 100% (2 of 2)
Cerebellum N/A heterozygote Not available
Cerebral cortex N/A heterozygote Not available
Eye N/A heterozygote 0.0% (0 of 2)
Gall bladder N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote 50% (1 of 2)
Hippocampus N/A heterozygote Not available
Hypothalamus N/A heterozygote Not available
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 100% (2 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)
Esophagus N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote Not available
Ovary N/A heterozygote 50% (1 of 2)
Oviduct N/A heterozygote 50% (1 of 2)
Pancreas N/A heterozygote 0.0% (0 of 2)
Parathyroid gland N/A heterozygote 50% (1 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 100% (2 of 2)
Prostate gland N/A heterozygote 50% (1 of 2)
Skeletal muscle tissue 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 100% (2 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach N/A heterozygote 0.0% (0 of 2)
Striatum N/A heterozygote Not available
Testis N/A heterozygote 50% (1 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 100% (2 of 2)
Trachea N/A heterozygote 100% (2 of 2)
Uterus N/A heterozygote 50% (1 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 0.68% (4 of 584)
aorta 0.17% (1 of 584)
blood vessel 0.0%
bone 0.0%
brain 0.68% (4 of 584)
brainstem 0.34% (2 of 584)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 584)
cerebellum 0.51% (3 of 584)
cerebral cortex 0.34% (2 of 584)
eye 0.0%
gall bladder 0.0%
heart 0.34% (2 of 584)
hippocampus 0.51% (3 of 584)
hypothalamus 0.34% (2 of 584)
kidney 3.6% (21 of 584)
large intestine 1.71% (10 of 584)
liver 0.0%
lower urinary tract 0.17% (1 of 584)
lung 0.34% (2 of 584)
lymph node 0.17% (1 of 584)
mammary gland 0.0%
oesophagus 0.0%
olfactory lobe 0.34% (2 of 584)
ovary 0.17% (1 of 584)
oviduct 0.0%
pancreas 0.86% (5 of 584)
parathyroid gland 0.18% (1 of 562)
peripheral nervous system 0.34% (2 of 584)
peyer's patch 0.57% (1 of 176)
pituitary gland 0.17% (1 of 584)
prostate gland 2.05% (12 of 584)
skeletal muscle tissue 0.0%
skin 0.17% (1 of 584)
small intestine 1.54% (9 of 584)
spinal cord 0.51% (3 of 584)
spleen 0.51% (3 of 584)
stomach 2.05% (12 of 584)
striatum 0.51% (3 of 584)
testis 1.03% (6 of 584)
thymus 0.17% (1 of 584)
thyroid gland 2.74% (16 of 584)
trachea 0.51% (3 of 584)
uterus 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.

Legacy Phenotype Associated Images

View all 176 images

Human diseases caused by Arid4a 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 Arid4a by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Extramedullary hematopoiesis, Neutropenia, Thrombocytopenia, Hepatomegaly, Leukopenia, Splenomega... OMIM:615285
Essential Thrombocythemia
Myelodysplasia, Abnormality of bone marrow cell morphology, Myelofibrosis, Prolonged bleeding tim... ORPHA:3318
Acute Panmyelosis With Myelofibrosis
Lymphocytosis, Myelofibrosis, Bone marrow hypercellularity, Abnormality of bone marrow stromal ce... ORPHA:86843
Acquired Idiopathic Sideroblastic Anemia
Increased megakaryocyte count, Abnormal megakaryocyte morphology, Neutropenia, Pancytopenia, Myel... ORPHA:75564
Ras-Associated Autoimmune Leukoproliferative Disorder
Lymphocytosis, Monocytosis, Lymphoproliferative disorder, Hemolytic anemia, Autoimmune thrombocyt... OMIM:614470
Diamond-Blackfan Anemia 18
Erythroid hypoplasia, Granulocytic hypoplasia, Neutropenia, Steroid-responsive anemia OMIM:618310
Ghosal Hematodiaphyseal Dysplasia
Myelofibrosis, Increased bone mineral density, Thrombocytopenia, Leukopenia, Refractory anemia, B... OMIM:231095
Erythroleukemia, Familial, Susceptibility To
Refractory anemia with ringed sideroblasts, Erythroid hyperplasia, Thrombocytopenia, Acute myeloi... OMIM:133180
Specific Granule Deficiency 2
Absent neutrophil specific granules, Myelodysplasia, Hirsutism, Neutropenia, Thrombocytopenia, An... OMIM:617475
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Erythroid hypoplasia, Myelodysplasia, Thrombocytosis, Abnormal bleeding, Bone marrow hypercellula... ORPHA:86841
Thrombocytopenia, Anemia, And Myelofibrosis
Myelofibrosis, Thrombocytopenia, Anisopoikilocytosis, Anemia, Splenomegaly OMIM:617441
Gray Platelet Syndrome
Abnormal bleeding, Prolonged bleeding time, Myelofibrosis, Abnormal number of alpha granules, Imp... OMIM:139090
Alpha-Thalassemia-Myelodysplastic Syndrome
Abnormal bleeding, Myelodysplasia, Dyspnea, Microcytic anemia, Neutropenia, Thrombocytopenia, HbH... ORPHA:231401
Immunodeficiency 21
Myeloid leukemia, Myelodysplasia, Monocytopenia, Abnormal natural killer cell morphology, Lymphop... OMIM:614172
Leukocyte Adhesion Deficiency, Type Iii
Abnormal bleeding, Leukocytosis, Extramedullary hematopoiesis, Osteopetrosis, Epistaxis, Hepatome... OMIM:612840
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hypochromia, Azoospermia, Hypogonadism, Hepatomegaly, Anemia, Splenomegaly, Decreased mean corpus... OMIM:615234
Primary Myelofibrosis
Abnormal megakaryocyte morphology, Pancytopenia, Anemia, Abnormality of bone marrow cell morpholo... ORPHA:824
Fanconi Anemia, Complementation Group G
Myelodysplasia, Neutropenia, Thrombocytopenia, Anemia, Leukemia OMIM:614082
Thrombocytopenia, Cyclic
Thrombocytopenia, Abnormal bleeding, Neutropenia, Cyclic neutropenia OMIM:188020
Refractory Anemia
Erythroid hypoplasia, Myelodysplasia, Abnormal bleeding, Dyspnea, Single lineage myelodysplasia, ... ORPHA:98826
Trimethylaminuria
Recurrent pneumonia, Neutropenia, Hypertension, Tachycardia, Anemia, Splenomegaly OMIM:602079
Fetal Cytomegalovirus Syndrome
Hepatomegaly, Anemia, Splenomegaly ORPHA:294
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
T lymphocytopenia, Monocytopenia, Chronic pulmonary obstruction, Bronchiectasis, Lymphadenitis, L... OMIM:618986
Polycythemia Vera
Thrombocytosis, Increased hematocrit, Gastrointestinal hemorrhage, Leukocytosis, Increased megaka... OMIM:263300
Immunodeficiency 8
Lymphopenia, Hyperactivity OMIM:615401
Polycythemia Vera
Myelodysplasia, Myelofibrosis, Gastrointestinal hemorrhage, Intermittent claudication, Angina pec... ORPHA:729
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Monocytosis, Myelodysplasia, Lymphoma, Acute myeloid leukemia, Asthma, Leukopenia, Refractory ane... OMIM:616871
Bleeding Disorder, Platelet-Type, 17
Abnormal bleeding, Prolonged bleeding time, Myelofibrosis, Gastrointestinal hemorrhage, Epistaxis... OMIM:187900
Thrombocytopenia 6
Osteoporosis, Abnormal bleeding, Myelofibrosis, Bone marrow hypercellularity, Spontaneous, recurr... OMIM:616937
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Thrombocytopenia, Osteopenia, Hepatosplenomegaly, Anemia OMIM:610539
Anemia, Congenital Dyserythropoietic, Type Ib
Reticulocytosis, Erythroid hyperplasia, Hepatomegaly, Anisocytosis, Jaundice, Splenomegaly, Anemi... OMIM:615631
Ataxia-Pancytopenia Syndrome
Acute myelomonocytic leukemia, Neutropenia, Ataxia, Pancytopenia, Thrombocytopenia, Hypoplastic a... OMIM:159550
Diamond-Blackfan Anemia 19
Erythroid hypoplasia, Anemia, Steroid-responsive anemia OMIM:618312
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 1
Myeloid leukemia, Myelodysplasia, Obstructive sleep apnea, Dyspnea, Cirrhosis, Premature graying ... OMIM:614742
Adult Idiopathic Neutropenia
Monocytosis, Monocytopenia, Bone marrow hypercellularity, Lymphopenia, Neutropenia, Abnormality o... ORPHA:2688
Ataxia-Pancytopenia Syndrome
Abnormality of neutrophils, Abnormal macrophage morphology, Acute myelomonocytic leukemia, Gait d... ORPHA:2585
Hypereosinophilic Syndrome, Idiopathic
Restrictive cardiomyopathy, Hepatomegaly, Splenomegaly, Myeloproliferative disorder, Eosinophilia OMIM:607685
Diamond-Blackfan Anemia-Like
Pure red cell aplasia, Steroid-responsive anemia OMIM:617911
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Myelodysplasia, Neutropenia, Thrombocytopenia, Acute myeloid leukemia, Pancytopenia, Anemia, Incr... OMIM:619041
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
T lymphocytopenia, Congenital alopecia totalis ORPHA:169095
Beta-Thalassemia Intermedia
Persistence of hemoglobin F, Jaundice, Decreased liver function, High-output congestive heart fai... ORPHA:231222
Myeloproliferative Syndrome, Transient
Leukocytosis, Transient myeloproliferative syndrome OMIM:159595
Immunodeficiency 18
Decreased proportion of CD3-positive T cells, Lymphopenia OMIM:615615
Myelofibrosis
Purpura, Myeloproliferative disorder, Myelofibrosis, Splenomegaly OMIM:254450
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Congenital agranulocytosis, Monocytosis, Thrombocytosis, Acute monocytic leukemia, Neutropenia, A... OMIM:202700
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hemophagocytosis, Neutropenia, Thrombocytopenia, Jaundice, Hepatomegaly, Anemia, Splenomegaly, Ly... OMIM:603552
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Impaired lymphocyte transformation with phytohemagglutinin, Monoclonal immunoglobulin M proteinem... OMIM:153600
Thrombocytopenic Purpura, Autoimmune
Thrombocytopenia, Abnormal bleeding OMIM:188030
Idiopathic Hypereosinophilic Syndrome
Intracranial hemorrhage, Vasculitis in the skin, Cough, Generalized lymphadenopathy, Pulmonary em... ORPHA:3260
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations
Lymphopenia, Verrucae, Neutropenia OMIM:614868
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Hypochromic anemia, Abnormality of multiple cell lineages in the bone marrow, Abnormal megakaryoc... ORPHA:67044
Deafness-Lymphedema-Leukemia Syndrome
Prolonged bleeding time, Leukocytosis, Intracranial hemorrhage, Bruising susceptibility, Thromboc... ORPHA:3226
Transient Erythroblastopenia Of Childhood
Transient erythroblastopenia, Anemia OMIM:227050
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Chronic hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Congenital hemolytic ... ORPHA:766
Immunodeficiency 40
Lymphopenia OMIM:616433
Aggressive Systemic Mastocytosis
Increased proportion of CD25+ mast cells, Osteoporosis, Osteolysis, Gastrointestinal hemorrhage, ... ORPHA:98850
Anemia, Congenital Dyserythropoietic, Type Ia
Macrocytic dyserythropoietic anemia, Reticulocytosis, Erythroid hyperplasia, Prolonged neonatal j... OMIM:224120
Hemochromatosis, Type 3
Cirrhosis, Elevated hepatic transaminase, Amenorrhea, Purpura, Lymphopenia, Impotence, Neutropeni... OMIM:604250
Immunodeficiency 50
Lymphopenia, Neutropenia OMIM:300988
Systemic Mastocytosis With Associated Hematologic Neoplasm
Chronic myelomonocytic leukemia, Abnormal mast cell morphology, Neutrophilia, Eosinophilia, Synco... ORPHA:98849
Cyclic Neutropenia
Neutropenia, Cyclic neutropenia OMIM:162800
Amed Syndrome, Digenic
Myelodysplasia, Thrombocytopenia, Acute myeloid leukemia, Anemia, Leukopenia, Bone marrow hypocel... OMIM:619151
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Hypopigmentation of hair, Neutropenia ORPHA:90023
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Impaired platelet aggregation, Elliptocytosis, Abnormal granulocytopoietic cell morphology, Incre... OMIM:300835
Acute Myelomonocytic Leukemia
Abnormal bleeding, Dyspnea, Leukocytosis, Thrombocytopenia, Anemia, Eosinophilia ORPHA:517
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Hepatomegaly, Anemia, Splenomegaly, Abnormal bone structure ORPHA:46532
Castleman Disease
Abdominal mass, Dyspnea, Myelofibrosis, Restrictive cardiomyopathy, Cough, Generalized lymphadeno... ORPHA:160
X-Linked Sideroblastic Anemia And Spinocerebellar Ataxia
Ataxia, Anemia ORPHA:2802
Primary Familial Polycythemia
Abnormal bleeding, Dyspnea, Exertional dyspnea, Polycythemia, Cough, Epistaxis, Abnormal hemoglobin ORPHA:90042
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Dystonia, Lethargy, Respiratory distress, Neutropenia, Thrombocytopenia, Hepatomegaly, Anemia, Sp... ORPHA:79312
Gray Platelet Syndrome
Abnormality of the menstrual cycle, Myelodysplasia, Abnormal bleeding, Epistaxis, Thrombocytopeni... ORPHA:721
Diamond-Blackfan Anemia 17
Anemia OMIM:617409
Erythrocytosis, Familial, 1
Increased hematocrit, Exertional dyspnea, Increased hemoglobin, Hypertension, Increased red blood... OMIM:133100
Immunodeficiency 24
Lymphoproliferative disorder, Decreased proportion of memory B cells, Lymphopenia, Reduced propor... OMIM:615897
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal bleeding, Thrombocytopenia, Splenomegaly, Anemia, Abnormal platelet function, Abnormal h... ORPHA:231393
Rhabdoid Tumor
Neoplasm of the central nervous system, Renal neoplasm, Internal hemorrhage, Neoplasm of the live... ORPHA:69077
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive
T lymphocytopenia, Pneumonia, Hepatomegaly, Splenomegaly, Lymphadenopathy OMIM:608971
Eosinophilia, Familial
Leukocytosis, Thrombocytopenia, Eosinophilia, Anemia OMIM:131400
Myeloproliferative Disorder, Chronic, With Eosinophilia
Myeloproliferative disorder, Malignant eosinophil proliferation, Eosinophilia OMIM:131440
Generalized Eruptive Histiocytosis
Histiocytosis, Leukemia, Hypereosinophilia ORPHA:157991
Lymphoproliferative Syndrome, X-Linked, 1
Lymphocytosis, Hemophagocytosis, Neutropenia, Burkitt lymphoma, Lymphoma, Pancytopenia, Thrombocy... OMIM:308240
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Dystonia, Lethargy, Respiratory distress, Neutropenia, Thrombocytopenia, Hepatomegaly, Pancreatit... ORPHA:289916
Slc35A1-Cdg
Abnormal bleeding, Pulmonary hemorrhage, Prolonged bleeding time, Respiratory distress, Abnormal ... ORPHA:238459
Neutrophilia, Hereditary
Neutrophilia, Myelodysplasia, Hepatosplenomegaly OMIM:162830
Congenital Amegakaryocytic Thrombocytopenia
Thrombocytopenia, Abnormal hemoglobin, Decreased skull ossification, Anemia ORPHA:3319
Refractory Anemia With Excess Blasts
Abnormal bleeding, Palpitations, Abnormality of bone marrow cell morphology, Dysplastic granulopo... ORPHA:86839
Glutathione Synthetase Deficiency
Hemolytic anemia, Neutropenia, Ataxia OMIM:266130
Wt Limb-Blood Syndrome
Thrombocytopenia, Hypoplastic anemia, Pancytopenia, Leukemia OMIM:194350
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia
Thrombocytopenia OMIM:124900
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Neutropenia OMIM:616022
Osteopetrosis, Autosomal Recessive 5
Extramedullary hematopoiesis, Osteopetrosis, Pancytopenia, Thrombocytopenia, Hepatomegaly, Respir... OMIM:259720
Cernunnos-Xlf Deficiency
T lymphocytopenia, Lymphopenia, Thrombocytopenia, B lymphocytopenia, Anemia ORPHA:169079
Neutropenia, Chronic Familial
Neutropenia OMIM:162700
Bleeding Disorder, Platelet-Type, 9
Thrombocytopenia, Bruising susceptibility OMIM:614200
Thrombocytopenia 2
Thrombocytopenia, Bruising susceptibility OMIM:188000
Autosomal Dominant Severe Congenital Neutropenia
Monocytosis, Hemangioma, Myelodysplasia, Lymphopenia, Leukemia, Neutropenia, Pneumonia, Acute mye... ORPHA:486
Neutropenia, Severe Congenital, 7, Autosomal Recessive
Neutropenia OMIM:617014
Osteopetrosis, Autosomal Recessive 2
Chronic rhinitis due to narrow nasal airway, Extramedullary hematopoiesis, Osteopetrosis, Pancyto... OMIM:259710
Chronic Myeloid Leukemia
Thrombocytosis, Abnormal basophil morphology, Leukocytosis, Abnormal granulocyte morphology, Thro... ORPHA:521
Glioma Susceptibility 9
Leukemia, Glioma, Astrocytoma OMIM:616568
Pancytopenia And Occlusive Vascular Disease
Thrombocytopenia, Leukopenia, Pancytopenia, Anemia OMIM:167850
Sea-Blue Histiocyte Disease
Cirrhosis, Absent axillary hair, Thrombocytopenia, Sea-blue histiocytosis, Splenomegaly OMIM:269600
X-Linked Severe Congenital Neutropenia
Monocytopenia, Neutropenia ORPHA:86788
Bilateral Striopallidodentate Calcinosis
Thrombocytopenia, Subcutaneous hemorrhage, Abnormality of the liver, Hepatomegaly ORPHA:1980
Agammaglobulinemia 7, Autosomal Recessive
Neutropenia OMIM:615214
Chromosome 14Q32 Duplication Syndrome, 700-Kb
Myeloid leukemia, Myelofibrosis OMIM:616604
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Hepatomegaly, Gait disturbance, Ataxia, Splenomegaly ORPHA:2274
Acute Monoblastic/Monocytic Leukemia
Lymphocytosis, Hypochromic anemia, Acute monocytic leukemia, Abnormality of multiple cell lineage... ORPHA:514
Thrombocytopenia 4
Thrombocytopenia OMIM:612004
Dehydrated Hereditary Stomatocytosis
Nonspherocytic hemolytic anemia, Increased hemoglobin concentration, Hemolytic anemia, Increased ... ORPHA:3202
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, Recurrent pneumonia, Intermittent thrombocytopenia, Bronchiectasis, Neutr... OMIM:150550
Acute Promyelocytic Leukemia
Ecchymosis, Abnormal bleeding, Bone marrow hypercellularity, Purpura, Leukocytosis, Oral cavity b... ORPHA:520
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Lymphopenia, Hepatiti... ORPHA:444463
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 2
Myeloid leukemia, Cirrhosis, Premature graying of hair, Pancytopenia, Aplastic anemia, Leukemia, ... OMIM:614743
Unclassified Myelodysplastic Syndrome
Myelodysplasia, Leukocytosis, Acute myeloid leukemia, Multiple lineage myelodysplasia, Bone marro... ORPHA:98827
Immunodeficiency 19
Lymphopenia OMIM:615617
Immunodeficiency 76
T lymphocytopenia, Recurrent pneumonia, Lymphopenia, B-cell lymphoma, B lymphocytopenia, Splenome... OMIM:619164
Babesiosis
Hemolytic anemia, Cough, Respiratory insufficiency, Thrombocytopenia, Myocardial infarction, Jaun... ORPHA:108
Bone Marrow Failure Syndrome 6
Squamous cell carcinoma of the tongue, Persistence of hemoglobin F, Hypothyroidism, Lymphopenia, ... OMIM:618849
Pontocerebellar Hypoplasia, Type 15
Thrombocytopenia, Dystonia, Chronic neutropenia, Anemia OMIM:619302
Agammaglobulinemia 3, Autosomal Recessive
Neutropenia OMIM:613501
Hereditary Spherocytosis
Increased mean corpuscular hemoglobin concentration, Reticulocytosis, Restrictive cardiomyopathy,... ORPHA:822
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia
Persistent bleeding after trauma, Congenital thrombocytopenia, Epistaxis, Petechiae, Anemia of in... OMIM:300367
Immunodeficiency 52
Coombs-positive hemolytic anemia, Recurrent pneumonia, Autoimmune thrombocytopenia, Bronchiectasi... OMIM:617514
Ollier Disease
Hemangioma, Osteolysis, Chondrosarcoma, Multiple enchondromatosis, Neoplasm, Sarcoma, Anemia, Vis... ORPHA:296
Mu-Heavy Chain Disease
Osteoporosis, Osteolysis, Abnormality of bone marrow cell morphology, Hepatomegaly, Abnormal B ce... ORPHA:100024
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Thrombocytopenia, Acute myeloid leukemia, Myelodysplasia, Increased mean corpuscular volume OMIM:252270
Preeclampsia/Eclampsia 1
Thrombocytopenia, Elevated hepatic transaminase, Hypertension OMIM:189800
Apolipoprotein A-I Deficiency
Lymphadenopathy, Abnormality of the liver, Anemia, Splenomegaly ORPHA:425
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Oval macrocytosis, Anisocytosis, Poikilocytosis, Anemia of inadequate production OMIM:603529
Bone Marrow Failure Syndrome 2
Thrombocytopenia, Anemia, Bone marrow hypocellularity, Leukopenia OMIM:615715
Neutropenia, Severe Congenital, X-Linked
Neutropenia OMIM:300299
Dehydrated Hereditary Stomatocytosis 2
Hemolytic anemia, Increased mean corpuscular hemoglobin concentration, Reticulocytosis, Anisopoik... OMIM:616689
Propionic Acidemia
Osteoporosis, Apnea, Dystonia, Lethargy, Neutropenia, Cerebellar hemorrhage, Pancytopenia, Thromb... OMIM:606054
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Amegakaryocytic thrombocytopenia ORPHA:71289
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Neutropenia ORPHA:70592
Thrombocytopenia 5
Neutropenia, Epistaxis, Thrombocytopenia, Petechiae, Anemia, Bruising susceptibility OMIM:616216
Transcobalamin Deficiency
Lymphopenia, Neutropenia, Thrombocytopenia, Pancytopenia, Megaloblastic bone marrow ORPHA:859
Mast Cell Sarcoma
Hepatomegaly, Sarcoma, Splenomegaly, Mediastinal lymphadenopathy, Mastocytosis, Lymphadenopathy ORPHA:66661
Beta-Thalassemia Major
Decreased mean corpuscular hemoglobin concentration, Persistence of hemoglobin F, Reduced hemoglo... ORPHA:231214
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
T lymphocytopenia OMIM:242870
Poems Syndrome
Leukonychia, Hypertrichosis, Pulmonary arterial hypertension, Sclerosis of skull base, Lymphadeno... ORPHA:2905
Neutropenia, Severe Congenital, 3, Autosomal Recessive
Acute lymphoblastic leukemia, Myelodysplasia, Neutropenia OMIM:610738
Immunodeficiency, Common Variable, 13
Pancytopenia, Acute lymphoblastic leukemia, B lymphocytopenia OMIM:616873
Folate Malabsorption, Hereditary
Folate-responsive megaloblastic anemia, Neutropenia, Ataxia, Thrombocytopenia, Leukopenia, Athetosis OMIM:229050
Whim Syndrome 1
Myelokathexis, Bone marrow hypercellularity, Bronchiectasis, Neutropenia, Verrucae, Abnormality o... OMIM:193670
3-Methylglutaconic Aciduria, Type Vii
Neutropenia OMIM:616271
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Fava bean-induced hemolytic anemia, Reticulocytosis, Leukocytosis, Prolonged neonatal jaundice, A... OMIM:300908
Lymphoproliferative Syndrome 1
Lymphoproliferative disorder, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Pleural e... OMIM:613011
Woronets Trait
Red blood cell keratocytosis OMIM:194320
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Chronic hemolytic anemia, Dystonia, Elliptocytosis, Hepatocellular necrosis, Reticulocytosis, Res... OMIM:618278
Anemia, Sideroblastic, 4
Sideroblastic anemia, Refractory anemia with ringed sideroblasts, Abnormal erythrocyte morphology OMIM:182170
Neonatal Lupus Erythematosus
Abnormal bleeding, Heart block, Hemolytic anemia, Abnormal electrophysiology of sinoatrial node o... ORPHA:398124
Lymphedema, Primary, With Myelodysplasia
Pancytopenia, Leukemia, Myelodysplasia OMIM:614038
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy
Microcytic anemia, Difficulty walking, Hypothyroidism, Neutropenia, Hepatomegaly OMIM:251900
Felty Syndrome
Recurrent pneumonia, Osteolysis, Pericarditis, Abnormal lymphocyte morphology, Neutropenia, Lymph... ORPHA:47612
Hypermanganesemia With Dystonia 1
Cirrhosis, Dystonia, Elevated hepatic transaminase, Polycythemia, Bradykinesia, Hepatomegaly, Dec... OMIM:613280
Dominant Beta-Thalassemia
Decreased mean corpuscular hemoglobin concentration, Persistence of hemoglobin F, Reduced hemoglo... ORPHA:231226
Pontocerebellar Hypoplasia, Type 14
Thrombocytopenia, Dystonia, Chronic neutropenia OMIM:619301
Osteopetrosis, Autosomal Recessive 8
Osteopetrosis, Thrombocytopenia, Hepatomegaly, Anemia, Splenomegaly OMIM:615085
Acute Erythroid Leukemia
Erythroid hypoplasia, Bone marrow hypercellularity, Refractory anemia with ringed sideroblasts, P... ORPHA:318
Malaria
Thrombocytopenia, Gait imbalance, Anemia, Respiratory distress ORPHA:673
Platelet Disorder, Familial, With Associated Myeloid Malignancy
Impaired platelet aggregation, Myelodysplasia, Acute monocytic leukemia, Prolonged bleeding time,... OMIM:601399
Li-Fraumeni Syndrome
Non-Hodgkin lymphoma, Ovarian neoplasm, Neoplasm, Colorectal polyposis, Hodgkin lymphoma, Breast ... ORPHA:524
Beta-Thalassemia
Microcytic anemia, Respiratory insufficiency, Cholelithiasis, Thrombocytopenia, Reduced bone mine... ORPHA:848
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, B lymphocytopenia, Neutropenia OMIM:613107
Aregenerative Anemia
Erythroid hypoplasia, Abnormal bleeding, Dyspnea, Decreased proportion of CD4-positive helper T c... ORPHA:101096
Amegakaryocytic Thrombocytopenia, Congenital
Thrombocytopenia, Megakaryocytopenia, Pancytopenia, Amegakaryocytic thrombocytopenia OMIM:604498
Aicardi-Goutieres Syndrome 4
Dystonia, Elevated hepatic transaminase, Respiratory insufficiency, Pancytopenia, Thrombocytopeni... OMIM:610333
Immunodeficiency 69
Thrombocytosis, Leukocytosis, Pancytopenia, Anemia, Splenomegaly, Hepatosplenomegaly OMIM:618963
3-Methylglutaconic Aciduria, Type Viii
Apnea, Dystonia, Neutropenia, Respiratory failure, Bradycardia OMIM:617248
Aicardi-Goutieres Syndrome 3
Thrombocytopenia, Dystonia, Hepatosplenomegaly, Elevated hepatic transaminase OMIM:610329
Erythrocytosis, Familial, 8
Nonspherocytic hemolytic anemia, Cholecystitis, Polycythemia, Cholelithiasis, Normocytic anemia, ... OMIM:222800
Ebola Hemorrhagic Fever
Abnormal bleeding, Restrictive ventilatory defect, Lethargy, Gastrointestinal hemorrhage, Cough, ... ORPHA:319218
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Erythroid hypoplasia, Monocytosis, Lymphopenia, Neutropenia, Respiratory insufficiency, Hypoplasi... OMIM:612541
Griscelli Syndrome Type 2
Hemophagocytosis, Hypopigmentation of hair, Premature graying of hair, Neutropenia, Pancytopenia,... ORPHA:79477
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Lethargy, Neutropenia, Thrombocytopenia, Anemia, Pulmonary arterial hypertension, Tachypnea OMIM:614857
Immunodeficiency 55
Myelodysplasia, Neutropenia, Lymphadenopathy OMIM:617827
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Thrombocytopenia, Hypertension OMIM:166990
Leishmaniasis
Abnormal bleeding, Elevated hepatic transaminase, Abnormal macrophage morphology, Pancytopenia, T... ORPHA:507
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Leukocytosis, Anemia OMIM:619398
Beemer Lethal Malformation Syndrome
Thrombocytopenia OMIM:209970
Adenosine Triphosphate, Elevated, Of Erythrocytes
Polycythemia, Reduced erythrocyte 2,3-diphosphoglycerate concentration OMIM:102900
Immunodeficiency 46
Intermittent thrombocytopenia, Neutropenia, Anemia OMIM:616740
Staphylococcal Necrotizing Pneumonia
Lethargy, Dyspnea, Respiratory distress, Hypotension, Leukocytosis, Cough, Pleural effusion, Nonp... ORPHA:36238
Myeloproliferative Disease, Autosomal Recessive
Myeloproliferative disorder OMIM:254700
Juvenile Myelomonocytic Leukemia
Juvenile myelomonocytic leukemia OMIM:607785
Osteopetrosis, Autosomal Recessive 4
Reticulocytosis, Osteopetrosis, Thrombocytopenia, Hepatomegaly, Petechiae, Anemia, Splenomegaly, ... OMIM:611490
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Abnormal bleeding, Prolonged bleeding time, Epistaxis, Thrombocytopenia, Myocardial infarction, L... OMIM:155100
Forsythe-Wakeling Syndrome
Thrombocytopenia, Osteoporosis OMIM:613606
Schnitzler Syndrome
Leukocytosis, Lymphoma, Increased bone mineral density, Hepatomegaly, Anemia, Splenomegaly, Vascu... ORPHA:37748
Vitamin B12-Unresponsive Methylmalonic Acidemia
Lethargy, Ataxia, Respiratory insufficiency, Thrombocytopenia, Hepatomegaly, Anemia, Leukopenia, ... ORPHA:27
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Methemoglobinemia, Polycythemia, Exertional dyspnea OMIM:250800
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
T lymphocytopenia, Abnormally low T cell receptor excision circle level, Pneumonia, Nail dystrophy OMIM:618806
Autoimmune Hemolytic Anemia, Cold Type
Dyspnea, Abnormal leukocyte morphology, Hemolytic anemia, Splenomegaly ORPHA:228312
Shwachman-Diamond Syndrome 1
Myelodysplasia, Exocrine pancreatic insufficiency, Persistence of hemoglobin F, Respiratory distr... OMIM:260400
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly OMIM:183350
Neutropenia, Lethal Congenital, With Eosinophilia
Neutropenia, Eosinophilia OMIM:257100
Tempi Syndrome
Hemangioma, Increased hematocrit, Intracranial hemorrhage, Polycythemia, Ascites, Hypoxemia, Tela... ORPHA:284227
Hemoglobin H Disease
Hemolytic anemia, Hepatomegaly, HbH hemoglobin, Splenomegaly, Reduced alpha/beta synthesis ratio OMIM:613978
Chediak-Higashi Syndrome
Hemophagocytosis, Abnormal dense granules, Hypopigmentation of hair, Spontaneous, recurrent epist... OMIM:214500
Primary Erythromelalgia
Abnormal thrombocyte morphology, Leukemia, Vasculitis ORPHA:90026
Agammaglobulinemia 4, Autosomal Recessive
Recurrent pneumonia, Neutropenia, Chronic sinusitis OMIM:613502
Mastocytosis
Osteoporosis, Arrhythmia, Chronic leukemia, Gastrointestinal hemorrhage, Hypotension, Cough, Resp... ORPHA:98292
Lymphoblastic Leukemia, Acute, With Lymphomatous Features
Acute lymphoblastic leukemia, Lymphoma, T-cell acute lymphoblastic leukemias OMIM:247640
N Syndrome
Neoplasm, Leukemia OMIM:310465
Wolfram Syndrome, Mitochondrial Form
Megaloblastic anemia, Thrombocytopenia, Neutropenia, Sideroblastic anemia OMIM:598500
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Lymphoproliferative disorder, Autoimmune thrombocytopenia, Bronchiectasis, Decreased proportion o... OMIM:300853
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Lymphocytosis, T lymphocytopenia, Decreased proportion of CD8-positive T cells, Autoimmune thromb... ORPHA:169154
Idiopathic Aplastic Anemia
Neutropenia, Epistaxis, Reticulocytopenia, Thrombocytopenia, Pancytopenia, Retinal hemorrhage, Gi... ORPHA:88
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Autoimmune thrombocytopenia, Bronchiectasis, Autoimmune hemolytic anemia, Neutropenia in presence... OMIM:619220
Immunodeficiency 14A, Autosomal Dominant
Decreased proportion of class-switched memory B cells, T lymphocytopenia, Bronchiectasis, Increas... OMIM:615513
Omenn Syndrome
Severe B lymphocytopenia, Pneumonia, Lymphadenopathy, Thrombocytopenia, Hypoplasia of the thymus,... OMIM:603554
Developmental And Epileptic Encephalopathy 66
Synophrys, Neutropenia, Anemia, Broad-based gait OMIM:618067
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults
Acute myeloid leukemia, Neutropenia OMIM:607847
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Neutropenia OMIM:610798
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
T lymphocytopenia, Alopecia, Nail dystrophy, Decreased helper T cell proportion OMIM:601705
Erythrocytosis, Familial, 4
Polycythemia, Increased hematocrit, Increased hemoglobin OMIM:611783
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hemophagocytosis, Recurrent sinusitis, Thrombocytopenia, Anemia, Splenomegaly, Hepatosplenomegaly... OMIM:613101
Hereditary Elliptocytosis
Hemolytic anemia, Elliptocytosis, Stomatocytosis, Reticulocytosis, Abnormal erythrocyte morpholog... ORPHA:288
Immunodeficiency 16
Coombs-positive hemolytic anemia, Kaposi's sarcoma, Pancytopenia, Splenomegaly OMIM:615593
Autoimmune Lymphoproliferative Syndrome
Iron deficiency anemia, Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory ... OMIM:601859
Lig4 Syndrome
Low anterior hairline, Leukocytosis, Hypothyroidism, Lymphoma, Pancytopenia, Telangiectasia of th... ORPHA:99812
Anemia, Congenital Dyserythropoietic, Type Iv
Reticulocytosis, Erythroid hyperplasia, Hepatomegaly, Anemia of inadequate production, Anemia, Sp... OMIM:613673
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Hemolytic anemia, Stomatocytosis, Prolonged bleeding after dental extraction, Increased mean plat... OMIM:153670
Wiskott-Aldrich Syndrome
Chronic leukemia, Intracranial hemorrhage, Neutropenia, Neoplasm, Hyperostosis, Anemia, Sinusitis... ORPHA:906
Reticuloendotheliosis, X-Linked
Jaundice, Hepatosplenomegaly, Anemia, Lymphadenopathy OMIM:312500
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Azoospermia, Elevated hepatic transaminase, Hypothyroidism, Reticulocytopenia, Anisopoikilocytosi... ORPHA:300298
Alpha-Heavy Chain Disease
Lymphoma, Hepatomegaly, Splenomegaly, Ascites, Alopecia, Anemia, Premature ovarian insufficiency,... ORPHA:100025
Anemia, Hypochromic Microcytic, With Iron Overload 1
Hypochromia, Decreased mean corpuscular volume, Abnormality of the liver, Anemia OMIM:206100
Waldenström Macroglobulinemia
Gastrointestinal hemorrhage, Purpura, Abnormality of neutrophils, Pleural effusion, Epistaxis, At... ORPHA:33226
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Decreased mean corpuscular hemoglobin concentration, Stomatocytosis, Reticulocy... ORPHA:3203
Ghosal Hematodiaphyseal Dysplasia
Craniofacial hyperostosis, Abnormal cortical bone morphology, Anemia, Splenomegaly ORPHA:1802
Fetal Parvovirus Syndrome
Thrombocytopenia, Ascites, Anemia, Hypertrophic cardiomyopathy ORPHA:295
Thrombocytopenia With Beta-Thalassemia, X-Linked
Hemolytic anemia, Prolonged bleeding time, Reticulocytosis, Hirsutism, Epistaxis, Thrombocytopeni... OMIM:314050
Congenital Enterovirus Infection
Abnormal bleeding, Respiratory distress, Leukocytosis, Abnormal macrophage morphology, Hypotensio... ORPHA:292
Marburg Hemorrhagic Fever
Abnormal bleeding, Lethargy, Elevated hepatic transaminase, Gastrointestinal hemorrhage, Subconju... ORPHA:99826
Thrombocytopenia 7
Reduced platelet alpha granules, Post-partum hemorrhage, Impaired ADP-induced platelet aggregatio... OMIM:619130
Immunodeficiency 14B, Autosomal Recessive
Monocytosis, Thrombocytosis, Leukocytosis, Recurrent sinusitis, B lymphocytopenia, Recurrent pneu... OMIM:619281
Myelolymphatic Insufficiency
Hyposegmentation of neutrophil nuclei, Leukopenia OMIM:310350
Combined Cellular And Humoral Immune Defects With Granulomas
T lymphocytopenia, B lymphocytopenia OMIM:233650
Immunodeficiency 36
Bronchiectasis, Lymphopenia, Chronic lymphatic leukemia, B-cell lymphoma, Splenomegaly OMIM:616005
Congenital Dyserythropoietic Anemia Type Iii
Elevated hepatic transaminase, Post-partum hemorrhage, Oral cavity bleeding, Abnormal erythrocyte... ORPHA:98870
Schimke Immunoosseous Dysplasia
Lymphopenia, Neutropenia, Coarse hair, Hypertension, Thrombocytopenia, Abnormal T cell morphology... OMIM:242900
Avian Influenza
Dyspnea, Respiratory distress, Elevated hepatic transaminase, Pleural effusion, Lymphopenia, Coug... ORPHA:454836
Mantle Cell Lymphoma
Abnormality of bone marrow cell morphology, B-cell lymphoma, Lymphadenopathy, Splenomegaly ORPHA:52416
Congenital Factor Xiii Deficiency
Cerebral hemorrhage, Subcutaneous hemorrhage, Myeloid leukemia, Joint hemorrhage, Epistaxis, Hepa... ORPHA:331
Hemophagocytic Lymphohistiocytosis, Familial, 3
Hemophagocytosis, Hepatosplenomegaly, Granulocytopenia, Anemia OMIM:608898
Bleeding Disorder, Platelet-Type, 19
Abnormal bleeding, Spontaneous hematomas, Epistaxis, Macrothrombocytopenia, Menorrhagia, Anemia OMIM:616176
Hyperbilirubinemia, Shunt, Primary
Reticulocytosis, Erythroid hyperplasia, Hepatomegaly, Jaundice, Anemia of inadequate production, ... OMIM:237800
Diamond-Blackfan Anemia 8
Increased mean corpuscular volume, Neutropenia, Macrocytic anemia OMIM:612563
Diamond-Blackfan Anemia 4
Erythroid hypoplasia, Macrocytic anemia, Neutropenia, Reticulocytopenia OMIM:612527
Autoimmune Lymphoproliferative Syndrome, Type Iia
Iron deficiency anemia, Coombs-positive hemolytic anemia, Elevated proportion of CD4-negative, CD... OMIM:603909
Fgfr2-Related Bent Bone Dysplasia
Incomplete ossification of pubis, Extramedullary hematopoiesis, Hirsutism, Decreased calvarial os... ORPHA:313855
Mismatch Repair Cancer Syndrome 2
Glioblastoma multiforme, Colon cancer, T-cell acute lymphoblastic leukemias OMIM:619096
Spinocerebellar Ataxia, Autosomal Recessive 23
Arrhythmia, Neutropenia, Ataxia OMIM:616949
Lysosomal Acid Lipase Deficiency
Bone-marrow foam cells, Cirrhosis, Elevated circulating aspartate aminotransferase concentration,... OMIM:278000
Sitosterolemia 1
Impaired platelet aggregation, Abnormal bleeding, Episodic hemolytic anemia, Chronic hemolytic an... OMIM:210250
Barth Syndrome
Arrhythmia, Gait disturbance, Neutropenia, Granulocytopenia, Congestive heart failure, Dilated ca... OMIM:302060
Fanconi Anemia, Complementation Group V
Thrombocytopenia, Bone marrow hypocellularity, Neutropenia, Anemia OMIM:617243
Bone Marrow Failure Syndrome 4
Thrombocytopenia, Anemia, Bone marrow hypocellularity, Leukopenia OMIM:618116
Shwachman-Diamond Syndrome
Neutropenia, Pneumonia, Pancytopenia, Pancreatic hypoplasia, Anemia, Leukopenia, Sinusitis, Myelo... ORPHA:811
Desmoplastic Small Round Cell Tumor
Neoplasm of the central nervous system, Ovarian neoplasm, Abnormality of the peritoneum, Lymphade... ORPHA:83469
Pericardial Effusion, Chronic
Polycythemia, Constrictive pericarditis OMIM:260900
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Megaloblastic anemia, Ataxia, Thrombocytopenia, Jaundice, Pancytopenia, Hepatomegaly OMIM:613839
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Splenomegaly OMIM:618495
Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive
Hypochromia, Pyridoxine-responsive sideroblastic anemia, Sideroblastic anemia, Decreased mean cor... OMIM:206000
Methylmalonic Aciduria, Cblb Type
Lethargy, Respiratory distress, Neutropenia, Pancytopenia, Thrombocytopenia, Hepatomegaly, Anemia OMIM:251110
Atypical Hemolytic Uremic Syndrome
Thrombocytopenia, Microangiopathic hemolytic anemia ORPHA:2134
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Absent tonsils, T lymphocytopenia, Pulmonary insufficiency, Lymphopenia, Sinusitis, B lymphocytop... ORPHA:277
Mucopolysaccharidosis-Plus Syndrome
Inability to walk, Low anterior hairline, Recurrent pneumonia, Respiratory distress, Enlarged kid... OMIM:617303
Roch-Leri Mesosomatous Lipomatosis
Thrombocytopenia, Multiple lipomas, Purpura ORPHA:529
Diffuse Cutaneous Mastocytosis
Gastrointestinal hemorrhage, Hypotension, Hepatomegaly, Leukemia, Cutaneous mastocytosis ORPHA:79456
Dengue Fever
Lethargy, Cardiorespiratory arrest, Gastrointestinal hemorrhage, Hypotension, Epistaxis, Thromboc... ORPHA:99828
Chromosome 5Q Deletion Syndrome
Erythroid hypoplasia, Myelodysplasia, Refractory macrocytic anemia, Megakaryocyte nucleus hypolob... OMIM:153550
Spherocytosis, Type 5
Hemolytic anemia, Reticulocytosis, Jaundice, Splenomegaly, Spherocytosis OMIM:612690
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Thrombocytopenia, Congenital thrombocytopenia, Neutropenia, Anemia OMIM:616738
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Stomatocytosis, Reticulocytosis, Hepatomegaly, Jaundice, Splenomegaly OMIM:185000
Macrothrombocytopenia, Autosomal Dominant, Tubb1-Related
Macrothrombocytopenia OMIM:613112
Ataxia-Telangiectasia
Conjunctival telangiectasia, T lymphocytopenia, Non-Hodgkin lymphoma, Dystonia, Abnormal hair mor... OMIM:208900
Agammaglobulinemia 1, Autosomal Recessive
Bronchiectasis, Recurrent sinusitis, Neutropenia, Pneumonia, Sinusitis, B lymphocytopenia, Recurr... OMIM:601495
Fanconi Anemia, Complementation Group T
Thrombocytopenia, Bone marrow hypocellularity, Pancytopenia, Anemia OMIM:616435
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Autoimmune Lymphoproliferative Syndrome, Type Iii
Decreased proportion of class-switched memory B cells, Elevated circulating aspartate aminotransf... OMIM:615559
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome
Abnormal breath sound, Restrictive ventilatory defect, Abnormality of the hepatic vasculature, Dy... ORPHA:210136
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Decreased proportion of class-switched memory B cells, Coombs-positive hemolytic anemia, Autoimmu... OMIM:619375
Bernard-Soulier Syndrome
Prolonged bleeding after surgery, Abnormal bleeding, Prolonged bleeding time, Gastrointestinal he... OMIM:231200
Gamma-Heavy Chain Disease
Osteolysis, Abnormality of bone marrow cell morphology, Autoimmune thrombocytopenia, Autoimmune h... ORPHA:100026
Persistent Polyclonal B-Cell Lymphocytosis
Hepatomegaly, Lymphocytosis, Splenomegaly OMIM:606445
Li-Fraumeni Syndrome
Prostate cancer, Prostate neoplasm, Soft tissue sarcoma, Lung adenocarcinoma, Nephroblastoma, Ost... OMIM:151623
Griscelli Syndrome
Abnormal eyebrow morphology, Premature graying of hair, Abnormality of neutrophils, Abnormal eyel... ORPHA:381
Spherocytosis, Type 2
Hemolytic anemia, Reticulocytosis, Jaundice, Splenomegaly, Acanthocytosis, Spherocytosis OMIM:616649
Congenital Atransferrinemia
Hypothyroidism, Abnormality of the pancreas, Anemia ORPHA:1195
Erythrocytosis, Familial, 2
Hemangioma, Increased hematocrit, Hypotension, Increased hemoglobin, Increased red blood cell mas... OMIM:263400
Sting-Associated Vasculopathy, Infantile-Onset
Thrombocytosis, Sparse hair, Lymphopenia, Paratracheal lymphadenopathy, Raynaud phenomenon, Folli... OMIM:615934
Congenital Disorder Of Glycosylation, Type Iif
Pulmonary hemorrhage, Aortic regurgitation, Neutropenia, Ataxia, Macrothrombocytopenia, Thrombocy... OMIM:603585
Methylmalonic Aciduria, Cbla Type
Lethargy, Respiratory distress, Neutropenia, Pancytopenia, Thrombocytopenia, Hepatomegaly, Anemia OMIM:251100
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Hypothyroidism, Neutropenia, Lymph... OMIM:304790
Immunodeficiency By Defective Expression Of Mhc Class Ii
T lymphocytopenia, Abnormal CD4:CD8 ratio, Gait ataxia, Chronic hepatitis due to cryptosporidium ... ORPHA:572
Gaucher Disease, Type Ii
Apnea, Thrombocytopenia, Hepatomegaly, Anemia, Splenomegaly, Recurrent aspiration pneumonia OMIM:230900
Iron-Refractory Iron Deficiency Anemia
Hypochromic microcytic anemia, Anisocytosis, Poikilocytosis OMIM:206200
Tufted Angioma
Facial hemangioma, Purpura, Megakaryocytopenia, Thrombocytopenia, Petechiae, Hypertrichosis, Hype... ORPHA:1063
Dyskeratosis Congenita, Autosomal Dominant 1
Osteoporosis, Myelodysplasia, Cirrhosis, Sparse hair, Premature graying of hair, Interstitial pne... OMIM:127550
Familial Hemophagocytic Lymphohistiocytosis
Hemophagocytosis, Abnormality of multiple cell lineages in the bone marrow, Elevated hepatic tran... ORPHA:540
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Nonspherocytic hemolytic anemia, Jaundice, Splenomegaly OMIM:206400
Aicardi-Goutieres Syndrome 2
Lymphocytosis, Dystonia OMIM:610181
Bleeding Disorder, Platelet-Type, 20
Thrombocytopenia, Menorrhagia, Bruising susceptibility, Epistaxis OMIM:616913
Von Willebrand Disease, Type 2
Thrombocytopenia, Menorrhagia, Bruising susceptibility, Epistaxis OMIM:613554
Erythrocytosis, Familial, 5
Polycythemia, Increased hematocrit, Increased hemoglobin OMIM:617907
Erythrocytosis, Familial, 6
Polycythemia, Increased hematocrit, Increased hemoglobin OMIM:617980
Spherocytosis, Type 4
Hemolytic anemia, Reticulocytosis, Jaundice, Splenomegaly, Spherocytosis OMIM:612653
Platelet Glycoprotein Iv Deficiency
Thrombocytopenia, Abnormal bleeding, Giant platelets, Prolonged bleeding time OMIM:608404
Hemochromatosis, Type 2B
Cirrhosis, Elevated hepatic transaminase, Hepatomegaly, Congestive heart failure, Anemia, Splenom... OMIM:613313
Crimean-Congo Hemorrhagic Fever
Abnormal bleeding, Cardiorespiratory arrest, Gastrointestinal hemorrhage, Elevated hepatic transa... ORPHA:99827
X-Linked Agammaglobulinemia
Recurrent pneumonia, Neutropenia, Thrombocytopenia, Neoplasm, Sinusitis, Hepatitis, Recurrent cut... ORPHA:47
Macrothrombocytopenia and progressive sensorineural deafness
Abnormal bleeding, Prolonged bleeding time, Macrothrombocytopenia, Thrombocytopenia, Giant platel... OMIM:600208
Solute carrier family 4 (anion exchanger), member 1
Hemolytic anemia, Elliptocytosis, Stomatocytosis, Reticulocytosis, Jaundice, Splenomegaly, Acanth... OMIM:109270
Bleeding Disorder, Platelet-Type, 16
Impaired platelet aggregation, Abnormal bleeding, Macrothrombocytopenia, Thrombocytopenia, Petech... OMIM:187800
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Arrhythmia, Hypertension, Respiratory insufficiency, Thrombocytopenia, Sideroblastic anemia, Decr... OMIM:617021
Tularemia
Abnormal nasopharyngeal adenoid morphology, Cutaneous abscess, Respiratory distress, Leukocytosis... ORPHA:3392
Sebastian syndrome
Prolonged bleeding time, Epistaxis, Thrombocytopenia, Leukocyte inclusion bodies, Giant platelets... OMIM:605249
Congenital Disorder Of Glycosylation, Type Iik
Thrombocytopenia, Elevated hepatic transaminase, Osteoporosis, Hepatomegaly OMIM:614727
Familial Thrombocytosis
Abnormal bleeding, Myelodysplasia, Thrombocytosis, Chronic myelogenous leukemia, Acute myeloid le... ORPHA:71493
Gaucher Disease, Type Iii
Ataxia, Pancytopenia, Thrombocytopenia, Hepatomegaly, Splenomegaly OMIM:231000
Spherocytosis, Type 1
Hemolytic anemia, Reticulocytosis, Cholelithiasis, Jaundice, Splenomegaly, Spherocytosis OMIM:182900
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Hypochromic microcytic anemia, Ataxia, Sideroblastic anemia, B lymphocytopenia, Brittle hair, Spl... OMIM:616084
Immunodeficiency, Common Variable, 8, With Autoimmunity
Decreased proportion of class-switched memory B cells, Recurrent pneumonia, Lymphoproliferative d... OMIM:614700
Immunodeficiency, Common Variable, 1
Decreased proportion of class-switched memory B cells, Recurrent pneumonia, Bronchiectasis, Recur... OMIM:607594
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Hypochromia, Decreased mean corpuscular volume, Anemia OMIM:205950
Hemoglobin E-Beta-Thalassemia Syndrome
Abnormal hemoglobin, Anemia ORPHA:231249
Evans Syndrome
Lethargy, Dyspnea, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Epistaxis, Neutropen... ORPHA:1959
Transaldolase Deficiency
Cirrhosis, Abnormal respiratory system physiology, Thrombocytopenia, Anemia, Hepatosplenomegaly, ... ORPHA:101028
Holocarboxylase Synthetase Deficiency
Lethargy, Respiratory distress, Ataxia, Thrombocytopenia, Alopecia, Tachypnea ORPHA:79242
Livedoid Vasculopathy
Graves disease, Ischemic stroke, Leukocytosis, Polycythemia, Hypertension, Telangiectasia of the ... ORPHA:542643
Dohle Bodies And Leukemia
Acute myeloid leukemia, Leukocyte inclusion bodies, Anemia OMIM:223350
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Leukemia, Nephroblastoma, Meningioma OMIM:602501
Isovaleric Acidemia
Lethargy, Cerebellar hemorrhage, Thrombocytopenia, Pancytopenia, Leukopenia, Bone marrow hypocell... OMIM:243500
Autoinflammation With Infantile Enterocolitis
Pancytopenia, Reduced natural killer cell count, Thrombocytopenia, Diffuse alveolar hemorrhage, A... OMIM:616050
Letterer-Siwe Disease
Dyspnea, Neutropenia, Thrombocytopenia, Jaundice, Anemia, Hepatosplenomegaly OMIM:246400
Fanconi Anemia, Complementation Group A
Hypergonadotropic hypogonadism, Neutropenia, Reticulocytopenia, Pancytopenia, Thrombocytopenia, A... OMIM:227650
Immunodeficiency 27A
Thrombocytosis, Leukocytosis, Pneumonia, Histiocytosis, Anemia, Splenomegaly, Abnormal bronchus p... OMIM:209950
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Hypoplasia of the thymus, Lymphopenia OMIM:200900
Niemann-Pick Disease, Type B
Bone-marrow foam cells, Dyspnea, Sea-blue histiocytosis, Hepatomegaly, Splenomegaly OMIM:607616
Cyanosis, Transient Neonatal
Reticulocytosis, Hepatomegaly, Jaundice, Anemia, Methemoglobinemia OMIM:613977
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Autoimmune hemolytic anemia, Lymphopenia, Plasmacytosis, Pneumonia OMIM:247800
Immunodeficiency 47
Cirrhosis, Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Prolonged neonatal jau... OMIM:300972
Immunodeficiency 64
Abnormal CD4:CD8 ratio, Increased proportion autoreactive unresponsive CD21-/low B cells, Autoimm... OMIM:618534
Erythrocytosis, Familial, 3
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin OMIM:609820
Combined Immunodeficiency Due To Dock8 Deficiency
Anal canal squamous carcinoma, T lymphocytopenia, Recurrent sinusitis, Pneumonia, Squamous cell c... ORPHA:217390
Diamond-Blackfan Anemia 11
Bone marrow hypocellularity, Neutropenia, Anemia, Anemia of inadequate production OMIM:614900
Autoimmune Hemolytic Anemia, Warm Type
Lymphoproliferative disorder, Exertional dyspnea, Autoimmune hemolytic anemia, Chronic lymphatic ... ORPHA:90033
Dyskeratosis Congenita, Autosomal Recessive 2
Cirrhosis, Thrombocytopenia, Pancytopenia, Testicular atrophy, Bone marrow hypocellularity, Nail ... OMIM:613987
Congenital Toxoplasmosis
Elevated hepatic transaminase, Thrombocytopenia, Jaundice, Hepatomegaly, Cardiomegaly, Anemia, As... ORPHA:858
Aicardi-Goutieres Syndrome 7
Dystonia, Thrombocytopenia, Hepatomegaly, Splenomegaly, Vasculitis OMIM:615846
Kasabach-Merritt Syndrome
Microangiopathic hemolytic anemia, Hemangioma, Respiratory distress, Purpura, Reticulocytosis, Hy... ORPHA:2330
Lichtenstein Syndrome
Osteoporosis, Hirsutism, Neutropenia, Synophrys OMIM:246550
Nut Midline Carcinoma
Neuroblastoma, Pancreatic squamous cell carcinoma, Neoplasm, Oropharyngeal squamous cell carcinom... ORPHA:443167
+173470 integrin, beta-3
Impaired platelet aggregation, Abnormal bleeding, Gastrointestinal hemorrhage, Purpura, Intracran... OMIM:173470
Sea-Blue Histiocytosis
Abnormal bleeding, Thrombocytopenia, Sea-blue histiocytosis, Petechiae, Hepatomegaly, Splenomegal... ORPHA:158029
Cyclic Neutropenia
Peritonitis, Recurrent tonsillitis, Decreased eosinophil count, Lymphopenia, Tooth abscess, Throm... ORPHA:2686
Wiskott-Aldrich Syndrome 2
Thrombocytopenia, Decreased proportion of CD8-positive T cells OMIM:614493
Classic Mycosis Fungoides
Abnormality of bone marrow cell morphology, Abnormal lymphocyte morphology, Lymphoma, Hepatomegal... ORPHA:2584
Sepsis In Premature Infants
Abnormal bleeding, Abnormal mucociliary clearance, Dyspnea, Purpura, Leukocytosis, Hypotension, D... ORPHA:90051
Methylcobalamin Deficiency Type Cble
Osteoporosis, Lethargy, Neutropenia, Hypertension, Pancytopenia, Increased mean corpuscular volum... ORPHA:2169
Fanconi Anemia, Complementation Group E
Hypergonadotropic hypogonadism, Neutropenia, Reticulocytopenia, Pancytopenia, Thrombocytopenia, A... OMIM:600901
Cryohydrocytosis
Reticulocytosis, Hemolytic anemia, Stomatocytosis, Splenomegaly OMIM:185020
Platelet Signal Processing Defect
Abnormal bleeding, Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced platel... OMIM:173590
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Abnormally low T cell receptor excision circle level, B lymphocytopenia, Cervical lymphadenopathy OMIM:618987
Pseudo-Torch Syndrome 3
Apnea, Leukocytosis, Lymphadenitis, Congenital thrombocytopenia, Hypertension, Respiratory insuff... OMIM:618886
Gaucher Disease, Type I
Multiple myeloma, Dyspnea, Epistaxis, Hypertension, Pancytopenia, Thrombocytopenia, Aortic valve ... OMIM:230800
Fechtner syndrome
Abnormal bleeding, Prolonged bleeding time, Thrombocytopenia, Leukocyte inclusion bodies, Menorrh... OMIM:153640
Immunodeficiency 15A
Cutaneous abscess, Decreased proportion of CD8-positive T cells, Decreased proportion of memory B... OMIM:618204
Chilblain Lupus
Chronic myelomonocytic leukemia, Asthma, Raynaud phenomenon ORPHA:90280
Immunodeficiency 13
T lymphocytopenia, Bronchiectasis, Lymphopenia, Decreased proportion of CD4-positive helper T cel... OMIM:615518
Non-Involuting Congenital Hemangioma
Hemangioma, Midfrontal capillary hemangioma, Perineal hemangioma, Telangiectasia of the skin, Thr... ORPHA:141179
Gaucher Disease Type 1
Cirrhosis, Osteolysis, Pulmonary arterial hypertension, Increased bone mineral density, Pancytope... ORPHA:77259
Cartilage-Hair Hypoplasia
Sparse hair, Sparse eyelashes, Neoplasm of the skin, Sparse facial hair, Impaired lymphocyte tran... OMIM:250250
Isolated Agammaglobulinemia
Abnormality of neutrophils, Abnormal lymphocyte morphology, Pneumonia, Thrombocytopenia, Recurren... ORPHA:229717
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Dysdiadochokinesis, Micronodular cirrhosis, Dystonia, Truncal ataxia, Elevated hepatic transamina... ORPHA:309854
Erythrocytosis, Familial, 7
Polycythemia, Increased hematocrit OMIM:617981
Mcleod Syndrome
Atrial fibrillation, Abnormal erythrocyte morphology, Acanthocytosis, Dilated cardiomyopathy, Hep... OMIM:300842
Nasu-Hakola Disease
Reduced bone mineral density, Bone cyst, Acute leukemia ORPHA:2770
Paroxysmal Nocturnal Hemoglobinuria
Abnormal bleeding, Myelodysplasia, Hemolytic anemia, Angina pectoris, Pancytopenia, Acute myeloid... ORPHA:447
Thrombotic Thrombocytopenic Purpura, Hereditary
Microangiopathic hemolytic anemia, Respiratory distress, Reticulocytosis, Thrombocytopenia, Myoca... OMIM:274150
Combined Immunodeficiency Due To Partial Rag1 Deficiency
T lymphocytopenia, Interstitial pneumonitis, Autoimmune hemolytic anemia, Neutropenia in presence... ORPHA:231154
Rothmund-Thomson Syndrome Type 1
Neutropenia, Alopecia totalis, Sparse or absent eyelashes, Anemia, Telangiectasia, Melanoma, Myel... ORPHA:221008
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Myelodysplasia, Noncompaction cardiomyopathy, Lymphopenia, Neutropenia, Tricuspid regurgitation, ... ORPHA:508542
Syndromic Recessive X-Linked Ichthyosis
Hypohidrosis, Testicular seminoma, Hypogonadism, Acute leukemia, Attention deficit hyperactivity ... ORPHA:281090
Autoinflammatory Syndrome, Familial, Behcet-Like
Thrombocytopenia, Lymphopenia, Hemolytic anemia OMIM:616744
Diffuse Neonatal Hemangiomatosis
Hemangiomatosis, Thrombocytopenia, Hepatomegaly, Ascites, Anemia, Visceral angiomatosis ORPHA:2123
Immunodeficiency 75
Decreased proportion of class-switched memory B cells, Bronchiectasis, Follicular hyperplasia, Ly... OMIM:619126
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
T lymphocytopenia, Pulmonary hemorrhage, Elevated hepatic transaminase, Decreased proportion of m... ORPHA:79124
Hypoprebetalipoproteinemia, Acanthocytosis, Retinitis Pigmentosa, And Pallidal Degeneration
Dystonia, Acanthocytosis OMIM:607236
Rapidly Involuting Congenital Hemangioma
Hemangioma, Midfrontal capillary hemangioma, Perineal hemangioma, Telangiectasia of the skin, Thr... ORPHA:141184
Congenital Erythropoietic Porphyria
Osteoporosis, Abnormal bleeding, Osteolysis, Hemolytic anemia, Reticulocytosis, Scarring alopecia... ORPHA:79277
Sickle Cell Anemia
Iron deficiency anemia, Osteoporosis, Hypochromic anemia, Thrombocytosis, Hemolytic anemia, Chron... ORPHA:232
Wilson Disease
Acute hepatitis, Abnormality of the menstrual cycle, Cirrhosis, Elevated hepatic transaminase, Di... ORPHA:905
Osteopetrosis With Renal Tubular Acidosis
Osteopetrosis, Thrombocytopenia, Reduced bone mineral density, Hepatomegaly, Anemia, Splenomegaly ORPHA:2785
Thrombotic Thrombocytopenic Purpura
Microangiopathic hemolytic anemia, Arrhythmia, Dyspnea, Reticulocytosis, Thrombocytopenia, Myocar... ORPHA:54057
Giant platelet syndrome with thrombocytopenia
Gastrointestinal hemorrhage, Prolonged bleeding after dental extraction, Thrombocytopenia, Giant ... OMIM:137560
Hodgkin Lymphoma
Dyspnea, Cough, Ataxia, Lymphoma, Neoplasm, Hepatomegaly, Hyperhidrosis, Splenomegaly, Lymphadeno... ORPHA:98293
Leukemia, Acute Myelocytic, With Polyposis Coli And Colon Cancer
Acute myeloid leukemia, Adenomatous colonic polyposis, Colon cancer OMIM:246470
Megaloblastic Anemia, Folate-Responsive
Hypersegmentation of neutrophil nuclei, Episodic hemolytic anemia, Folate-responsive megaloblasti... OMIM:601775
Encephalopathy Due To Prosaposin Deficiency
Hepatomegaly, Dystonia, Respiratory insufficiency, Splenomegaly ORPHA:139406
Relapsing Fever
Abnormal bleeding, Elevated hepatic transaminase, Leukocytosis, Hypotension, Cough, Epistaxis, Th... ORPHA:91547
Necrotizing Enterocolitis
Peritonitis, Apnea, Lethargy, Leukocytosis, Hypotension, Neutropenia, Thrombocytopenia, Ascites, ... ORPHA:391673
Short Fifth Metacarpals-Insulin Resistance Syndrome
Spherocytosis, Splenomegaly ORPHA:66518
Pgm3-Cdg
Cutaneous abscess, Bronchiectasis, Decreased proportion of CD4-positive helper T cells, Vasculiti... ORPHA:443811
Osteopetrosis, Autosomal Recessive 3
Extramedullary hematopoiesis, Osteopetrosis, Cranial hyperostosis, Anemia, Hepatosplenomegaly, Di... OMIM:259730
Acute Peripheral Arterial Occlusion
Leukocytosis, Abnormal capillary physiology, Myocardial infarction, Supraventricular tachycardia,... ORPHA:90064
Transcobalamin Ii Deficiency
Lethargy, Neutropenia, Ataxia, Reticulocytopenia, Pancytopenia, Megaloblastic bone marrow, Macroc... OMIM:275350
Sengers Syndrome
Thrombocytopenia, Respiratory insufficiency, Hypertrophic cardiomyopathy OMIM:212350
Hypobetalipoproteinemia, Familial, 1
Ataxia, Acanthocytosis OMIM:615558
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Neutropenia, Anemia OMIM:617056
Lymphoproliferative Syndrome 2
Hemophagocytosis, Lymphoproliferative disorder, Recurrent pneumonia, Lymphoma, Pancytopenia, Hepa... OMIM:615122
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Lymphoma, B-cell lymphoma, Hepatomegaly, Splenomegaly, Hyperhidrosis, Breast carcinoma, Abnormali... ORPHA:86893
Rothmund-Thomson Syndrome
Infertility, Myelodysplasia, Basal cell carcinoma, Sparse eyebrow, Sparse hair, Abnormal trabecul... ORPHA:2909
Immunodeficiency With Hyper-Igm, Type 1
Cirrhosis, Hemolytic anemia, Sclerosing cholangitis, Neutropenia, Enlarged tonsils, Thrombocytope... OMIM:308230
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
T lymphocytopenia, B lymphocytopenia, Pneumonia, Purulent rhinitis OMIM:601457
Neutrophil Immunodeficiency Syndrome
Leukocytosis, Abnormality of neutrophil physiology ORPHA:183707
Hermansky-Pudlak Syndrome 2
Recurrent pneumonia, Albinism, Prolonged bleeding time, Impaired ADP-induced platelet aggregation... OMIM:608233
Immunodeficiency With Hyper-Igm, Type 3
Absence of lymph node germinal center, Neutropenia OMIM:606843
Bleeding Disorder, Platelet-Type, 24
Abnormal bleeding, Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced platel... OMIM:619271
Aspergillosis
Abnormality on pulmonary function testing, Dyspnea, Chronic pulmonary obstruction, Bronchiectasis... ORPHA:1163
Alpha-Thalassemia
Myelodysplasia, Hemolytic anemia, Microcytic anemia, Cholelithiasis, Jaundice, Hypersplenism, Spl... ORPHA:846
Heme Oxygenase 1 Deficiency
Hepatomegaly, Hemolytic anemia OMIM:614034
Cutaneous Neuroendocrine Carcinoma
Basal cell carcinoma, Multiple myeloma, Neoplasm of the outer ear, Chronic noninfectious lymphade... ORPHA:79140
Fanconi Anemia, Complementation Group D1
Acute myeloid leukemia, Bone marrow hypocellularity, T-cell acute lymphoblastic leukemias OMIM:605724
Poikiloderma With Neutropenia
Recurrent pneumonia, Recurrent sinusitis, Neutropenia, Splenomegaly OMIM:604173
3-Hydroxy-3-Methylglutaric Aciduria
Apnea, Thrombocytosis, Lethargy, Elevated hepatic transaminase, Leukocytosis, Hypotension, Lipid ... ORPHA:20
Phosphoglycerate Dehydrogenase Deficiency
Megaloblastic anemia, Thrombocytopenia OMIM:601815
Glutamate-Cysteine Ligase Deficiency
Hemolytic anemia, Reticulocytosis, Ataxia, Jaundice, Hepatosplenomegaly ORPHA:33574
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
T lymphocytopenia DECIPHER:16
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Recurrent pneumonia, Thrombocytosis, Megaloblastic anemia, Lymphopenia, Pancytopenia, Anemia of i... OMIM:617780
Fanconi Anemia, Complementation Group C
Hypergonadotropic hypogonadism, Bruising susceptibility, Neutropenia, Reticulocytopenia, Pancytop... OMIM:227645
Isobutyryl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy, Anemia OMIM:611283
Kaposiform Lymphangiomatosis
Epidural hemorrhage, Subconjunctival hemorrhage, Cough, Metrorrhagia, Anemia, Lymphangioma, Osteo... ORPHA:464329
Porphyria Due To Ala Dehydratase Deficiency
Difficulty walking, Ventilator dependence with inability to wean, Respiratory insufficiency, Abno... ORPHA:100924
Nephrotic Syndrome, Type 7
Thrombocytopenia, Hemolytic anemia OMIM:615008
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Allergic rhinitis, Exocrine pancreatic insufficiency, Hepatomegaly, Jaundice, Splenomegaly, Asthm... OMIM:612714
Reticular Dysgenesis
Congenital agranulocytosis, Lymphopenia, Leukopenia, Hypoplasia of the thymus OMIM:267500
Hemolytic Poikilocytic Anemia Due To Reduced Ankyrin Binding Sites
Nonspherocytic hemolytic anemia, Heinz body anemia, Elliptocytosis, Poikilocytosis OMIM:141700
Immunodeficiency 54
Lymphoproliferative disorder, Respiratory insufficiency, Adrenocorticotropic hormone excess, Redu... OMIM:609981
Immunodeficiency 48
Hepatomegaly, Pneumonia, Splenomegaly OMIM:269840
Omenn Syndrome
Aplasia/Hypoplasia of the eyebrow, Leukocytosis, Thyroiditis, Abnormal lymphocyte morphology, Hyp... ORPHA:39041
Storage Pool Platelet Disease
Abnormal bleeding, Myelodysplasia, Decreased mean platelet volume, Prolonged bleeding time, Acute... OMIM:185050
Lassa Fever
Lethargy, Cardiorespiratory arrest, Gastrointestinal hemorrhage, Pleural effusion, Cough, Menomet... ORPHA:99824
Vitamin B12-Responsive Methylmalonic Acidemia
Hepatomegaly, Lethargy, Anemia, Respiratory insufficiency ORPHA:28
Autoinflammation With Episodic Fever And Lymphadenopathy
Recurrent tonsillitis, Microcytic anemia, Hepatomegaly, Splenomegaly, Lymphadenopathy OMIM:618852
Pelger-Huet Anomaly
Abnormality of neutrophils, Hyposegmentation of neutrophil nuclei, Neutropenia, Thrombocytopenia,... OMIM:169400
Immunodeficiency 31C
Autoimmune hemolytic anemia, Osteopenia, Lymphopenia, Hypothyroidism OMIM:614162
Osteopetrosis, Autosomal Dominant 3
Hepatomegaly, Anemia, Splenomegaly, Osteopenia, Hyperparathyroidism OMIM:618107
Idiopathic Acute Eosinophilic Pneumonia
Restrictive ventilatory defect, Cough, Respiratory insufficiency, Abnormal pattern of respiration... ORPHA:724
Noonan Syndrome 12
Lymphopenia, Thrombocytopenia, Glabellar hemangioma, Supravalvular aortic stenosis, Decreased res... OMIM:618624
Transaldolase Deficiency
Micronodular cirrhosis, Cirrhosis, Synophrys, Pancytopenia, Thrombocytopenia, Hepatic fibrosis, H... OMIM:606003
Diffuse Alveolar Hemorrhage
Restrictive ventilatory defect, Dyspnea, Leukocytosis, Cough, Respiratory failure requiring assis... ORPHA:90060
Microcephalic Primordial Dwarfism, Toriello Type
Neutropenia ORPHA:2643
Hemoglobin C-Beta-Thalassemia Syndrome