Gene Summary

Name:
transmembrane protein 127
Synonyms:
2310003P10Rik

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
increased CD4-positive, alpha-beta T cell number Tmem127tm1(KOMP)Wtsi HOM Early adult 0.00
increased circulating creatinine level Tmem127tm1(KOMP)Wtsi HOM Early adult 2.28×10-05
increased alpha-beta T cell number Tmem127tm1(KOMP)Wtsi HOM   Early adult 0.00
decreased monocyte cell number Tmem127tm1(KOMP)Wtsi HOM   Early adult 0.00
decreased Ly6C high monocyte number Tmem127tm1(KOMP)Wtsi HOM Early adult 0.00
decreased NK cell number Tmem127tm1(KOMP)Wtsi HOM   Early adult 0.00
abnormal nail morphology Tmem127tm1(KOMP)Wtsi HOM Early adult 4.12×10-05
increased KLRG1-positive NK cell number Tmem127tm1(KOMP)Wtsi HOM Early adult 0.00
decreased neutrophil cell number Tmem127tm1(KOMP)Wtsi HOM Early adult 0.00
decreased CD4-positive, alpha-beta T cell number Tmem127tm1(KOMP)Wtsi HOM   Early adult 0.00
increased circulating bilirubin level Tmem127tm1(KOMP)Wtsi HOM Early adult 5.48×10-05
increased T cell number Tmem127tm1(KOMP)Wtsi HOM Early adult 0.00
increased CD8-positive, naive alpha-beta T cell number Tmem127tm1(KOMP)Wtsi HOM   Early adult 0.00
increased memory-marker NK cell number Tmem127tm1(KOMP)Wtsi HOM   Early adult 0.00
increased Ly6C low monocyte number Tmem127tm1(KOMP)Wtsi HOM Early adult 0.00
decreased effector memory CD8-positive, alpha-beta T cell number Tmem127tm1(KOMP)Wtsi HOM   Early adult 0.00
decreased B cell number Tmem127tm1(KOMP)Wtsi HOM   Early adult 0.00
increased circulating amylase level Tmem127tm1(KOMP)Wtsi HOM Early adult 6.30×10-10
decreased KLRG1-positive T-helper cell number Tmem127tm1(KOMP)Wtsi HOM   Early adult 0.00
increased circulating alkaline phosphatase level Tmem127tm1(KOMP)Wtsi HOM Early adult 2.73×10-13
decreased B-2 B cell number Tmem127tm1(KOMP)Wtsi HOM   Early adult 0.00
decreased memory-marker NK cell number Tmem127tm1(KOMP)Wtsi HOM   Early adult 0.00
thrombocytopenia Tmem127tm1(KOMP)Wtsi HOM   Early adult 2.28×10-07
decreased KLRG1-positive NK cell number Tmem127tm1(KOMP)Wtsi HOM   Early adult 0.00
increased bone mineral content Tmem127tm1(KOMP)Wtsi HOM Early adult 2.59×10-05
tremors Tmem127tm1(KOMP)Wtsi HOM Early adult 2.61×10-06
increased CD8-positive, alpha-beta T cell number Tmem127tm1(KOMP)Wtsi HOM   Early adult 0.00
obsolete increased CD8-positive, alpha beta T cell number Tmem127tm1(KOMP)Wtsi HOM Early adult 0.00
decreased plasmacytoid dendritic cell number Tmem127tm1(KOMP)Wtsi HOM   Early adult 0.00

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lacZ Expression

Expression data not available

Associated Images

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

Mesenteric Lymph Node Immunophenotyping

Images associated with FACS analysis

49 Images

X-ray

XRay Images Forepaw

14 Images

Spleen Immunophenotyping

Images associated with FACS analysis

80 Images

X-ray

XRay Images Whole Body Dorso Ventral

14 Images

X-ray

XRay Images Skull Lateral Orientation

14 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

16 Images

Anti-nuclear antibody assay

Images

6 Images

DSS Histology

Images

8 Images

X-ray

XRay Images Whole Body Lateral Orientation

14 Images

Eye Morphology

Images Slit Lamp

1 Images

Ear epidermis immunophenotyping

Images

12 Images

Legacy Phenotype Associated Images

View all 72 images

Human diseases caused by Tmem127 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 Tmem127 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Hereditary Pheochromocytoma-Paraganglioma
Hypercalcemia, Vocal cord paralysis, Tremor ORPHA:29072
Pheochromocytoma
Hypercalcemia OMIM:171300

The table below shows human diseases predicted to be associated to Tmem127 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Immunodeficiency 21
Reduced natural killer cell count, Aplastic anemia, Lymphopenia, Anemia, Neutropenia, B lymphocyt... OMIM:614172
Immunodeficiency 18
Reduced natural killer cell count, Lymphopenia, Abnormal B cell count, Decreased proportion of CD... OMIM:615615
Neutropenia, Severe Congenital, X-Linked
Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia OMIM:300299
Immunodeficiency 11A
Monocytopenia, Decreased proportion of CD4+CD25+ regulatory T cells OMIM:615206
Agammaglobulinemia 7, Autosomal Recessive
Reduced natural killer cell count, Neutropenia, Abnormal T cell morphology OMIM:615214
Immunodeficiency 97 With Autoinflammation
Decreased proportion of CD4+CD25+ regulatory T cells, Reduced natural killer cell count, Granulom... OMIM:619802
Immunodeficiency 15B
Reduced natural killer cell count, Monocytosis OMIM:615592
Immunodeficiency 112
Reduced natural killer cell count, Increased T cell count, Decreased proportion of class-switched... OMIM:620449
Immunodeficiency 50
Lymphopenia, Neutropenia OMIM:300988
Immunodeficiency 105
Reduced natural killer cell count, Lymphopenia, Hepatosplenomegaly, Pancytopenia, Impaired lympho... OMIM:619924
Lymphoproliferative Syndrome 3
Reduced natural killer cell count, Hepatosplenomegaly OMIM:618261
Immunodeficiency 20
Reduced natural killer cell count OMIM:615707
Adult Idiopathic Neutropenia
Monocytopenia, Lymphopenia, Neutropenia, Monocytosis ORPHA:2688
Diamond-Blackfan Anemia 18
Erythroid hypoplasia, Neutropenia, Steroid-responsive anemia OMIM:618310
Neutropenia, Severe Congenital, 10, Autosomal Recessive
Anorectal abscess, Monocytosis, Thrombocytopenia, Neutropenia, Anemia OMIM:620534
Ras-Associated Autoimmune Leukoproliferative Disorder
Pancytopenia, Splenomegaly, Lymphocytosis, Neutropenia, Monocytosis, Leukemia, Autoimmune thrombo... OMIM:614470
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Reduced natural killer cell count, Hemophagocytosis, Increased circulating ferritin concentration... ORPHA:158057
Immunodeficiency 32B
Hypoalbuminemia, Impaired oxidative burst, Splenomegaly, Eosinophilia, Monocytopenia, Thrombocyto... OMIM:226990
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
T lymphocytopenia, Congenital alopecia totalis ORPHA:169095
Autoinflammation With Infantile Enterocolitis
Hypoalbuminemia, Reduced natural killer cell count, Increased circulating ferritin concentration,... OMIM:616050
Neutropenia, Severe Congenital, 2, Autosomal Dominant
B lymphocytopenia, Neutropenia, Monocytosis OMIM:613107
Neutropenia, Severe Congenital, 7, Autosomal Recessive
Neutropenia OMIM:617014
Cyclic Neutropenia
Cyclic neutropenia OMIM:162800
Combined Immunodeficiency, X-Linked
Abnormal T cell count, Decreased proportion of CD8-positive T cells, Decreased proportion of CD4-... OMIM:312863
Immunodeficiency 102
Reduced natural killer cell count, Increased proportion of CD8-positive, alpha-beta TEMRA T cells... OMIM:301082
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Reduced natural killer cell count, Increased circulating ferritin concentration, Hypertriglycerid... OMIM:619313
Immunodeficiency 103, Susceptibility To Fungal Infections
Decreased circulating iron concentration, Hypereosinophilia, Abnormal B cell count, Abnormal prop... OMIM:212050
Immunodeficiency 15A
Decreased proportion of CD8-positive T cells, Decreased proportion of memory B cells, Decreased p... OMIM:618204
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Acute monocytic leukemia, Congenital agranulocytosis, Thrombocytosis, Eosinophilia, Neutropenia, ... OMIM:202700
X-Linked Severe Congenital Neutropenia
Monocytopenia, Neutropenia ORPHA:86788
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Abnormally low T cell receptor excision circle level, Lymphopenia, Hepatosplenomegaly, Pancytopen... OMIM:618986
Whim Syndrome 2
Chronic neutropenia OMIM:619407
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Hypopigmentation of hair, Neutropenia ORPHA:90023
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Neutropenia OMIM:616022
Glutathione Synthetase Deficiency
Neutropenia, Ataxia, Spastic tetraparesis, Increased level of L-pyroglutamic acid in urine, Hemol... OMIM:266130
Malaria
Anemia, Hyperbilirubinemia, Elevated circulating C-reactive protein concentration, Thrombocytopenia ORPHA:673
Immunodeficiency 24
Lymphopenia, Decreased proportion of memory B cells, Reduced proportion of mucosal-associated inv... OMIM:615897
Immunodeficiency 57 With Autoinflammation
Perianal abscess, Reduced natural killer cell count, T lymphocytopenia, B lymphocytopenia OMIM:618108
Neutropenia, Chronic Familial
Neutropenia OMIM:162700
Immunodeficiency 53
Impaired lymphocyte transformation with phytohemagglutinin, Neutrophilia OMIM:617585
Immunodeficiency 43
Hypoalbuminemia, Reduced natural killer cell count, Decreased circulating beta-2-microglobulin le... OMIM:241600
Immunodeficiency 52
Increased proportion of gamma-delta T cells, Lymphopenia, Abnormal B cell count, Decreased propor... OMIM:617514
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Bone marrow hypocellularity, Leukopenia, Acute myeloid leukemia, Monocytosis, Refractory anemia OMIM:616871
Immunodeficiency, Common Variable, 5
Abnormal T cell count, Abnormal B cell count OMIM:613495
Immunodeficiency 14B, Autosomal Recessive
Neutrophilia, Thrombocytosis, Leukocytosis, B lymphocytopenia, Monocytosis OMIM:619281
Aicardi-Goutieres Syndrome 2
Spastic paraplegia, Dystonia, Lymphocytosis OMIM:610181
Folate Malabsorption, Hereditary
Ataxia, Leukopenia, Folate-responsive megaloblastic anemia, Thrombocytopenia, Neutropenia, Athetosis OMIM:229050
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hemophagocytosis, Increased circulating ferritin concentration, Splenomegaly, Hypertriglyceridemi... OMIM:603552
Agammaglobulinemia 3, Autosomal Recessive
Absent circulating B cells, Neutropenia, Abnormal T cell morphology OMIM:613501
Immunodeficiency 85 And Autoimmunity
Decreased proportion of memory B cells, Reduced natural killer cell count, Lymphopenia, Decreased... OMIM:619510
Hemochromatosis, Type 3
Increased circulating iron concentration, Increased circulating ferritin concentration, Lymphopen... OMIM:604250
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Neutropenia ORPHA:70592
Pontocerebellar Hypoplasia, Type 14
Hypertonia, Thrombocytopenia, Dystonia, Spastic tetraplegia, Chronic neutropenia OMIM:619301
Pontocerebellar Hypoplasia, Type 15
Hypertonia, Thrombocytopenia, Anemia, Dystonia, Spastic tetraplegia, Chronic neutropenia OMIM:619302
Glutathione Peroxidase Deficiency
Compensated hemolytic anemia, Neonatal hyperbilirubinemia, Heinz bodies OMIM:614164
Ataxia-Pancytopenia Syndrome
Ataxia, Acute myelomonocytic leukemia, Pancytopenia, Dysmetria, Ankle clonus, Babinski sign, Thro... OMIM:159550
Immune Thrombocytopenia
Thrombocytopenia OMIM:188030
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Fava bean-induced hemolytic anemia, Hyperbilirubinemia, Reduced erythrocyte glutathione reductase... OMIM:618660
Immunodeficiency 54
Reduced natural killer cell count, Splenomegaly OMIM:609981
Lymphoproliferative Syndrome, X-Linked, 1
Hypoalbuminemia, Abnormal T cell count, Aplastic anemia, Hemophagocytosis, Pancytopenia, Abnormal... OMIM:308240
Transcobalamin Deficiency
Lymphopenia, Pancytopenia, Thrombocytopenia, Neutropenia ORPHA:859
Trimethylaminuria
Anemia, Splenomegaly, Neutropenia OMIM:602079
Cernunnos-Xlf Deficiency
Lymphopenia, Thrombocytopenia, B lymphocytopenia, Anemia, T lymphocytopenia ORPHA:169079
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Thrombocytopenia, Neutropenia, Anemia OMIM:615285
Fanconi Anemia, Complementation Group G
Leukemia, Anemia, Neutropenia, Thrombocytopenia OMIM:614082
Immunodeficiency, partial combined, with absence of hla determinantsand beta-2-microglobulin from lymphocytes
T lymphocytopenia OMIM:242870
Wiskott-Aldrich Syndrome 2
Decreased proportion of CD8-positive T cells, Thrombocytopenia OMIM:614493
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Chorea, Hyperammonemia, Hemiplegia/hemiparesis, Thrombocytopenia, Neutropenia, Anemia, Dystonia, ... ORPHA:289916
Hyperbilirubinemia, Shunt, Primary
Erythroid hyperplasia, Hyperbilirubinemia, Splenomegaly, Anemia of inadequate production, Reticul... OMIM:237800
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Neutropenia OMIM:610798
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, Splenomegaly, Abscess, Neutropenia, B lymphocytopenia, Intermittent throm... OMIM:150550
Spinocerebellar Ataxia, Autosomal Recessive 23
Hyponatremia, Neutropenia, Ataxia OMIM:616949
Autosomal Dominant Severe Congenital Neutropenia
Osteopenia, Aplastic anemia, Lymphopenia, Eosinophilia, Acute myeloid leukemia, Neutropenia, Mono... ORPHA:486
Disabling Pansclerotic Morphea Of Childhood
Elevated circulating C-reactive protein concentration, Lymphopenia, Neutropenia OMIM:620443
Immunodeficiency 19
Abnormal B cell morphology, T lymphocytopenia, Abnormal natural killer cell morphology OMIM:615617
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Lymphopenia, Reduced natural killer cell count, Cutaneous abscess, Neutropenia OMIM:619752
Systemic Lupus Erythematosus 17
Alopecia, Lymphopenia, Leukopenia, Chorea, Thrombocytopenia, Autoimmune thrombocytopenia OMIM:301080
Combined Cellular And Humoral Immune Defects With Granulomas
T lymphocytopenia, B lymphocytopenia OMIM:233650
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
Alopecia, T lymphocytopenia, Nail dystrophy, Decreased helper T cell proportion OMIM:601705
Eosinophilia, Familial
Anemia, Eosinophilia, Leukocytosis, Thrombocytopenia OMIM:131400
Neutrophilia, Hereditary
Splenomegaly, Neutrophilia OMIM:162830
Immunodeficiency 8 With Lymphoproliferation
Lymphopenia OMIM:615401
Red Cell Phospholipid Defect With Hemolysis
Splenomegaly, Hyperbilirubinemia, Reticulocytosis OMIM:179700
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
Abnormally low T cell receptor excision circle level, T lymphocytopenia, Nail dystrophy OMIM:618806
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
T lymphocytopenia, Hypocalcemia DECIPHER:16
Relapsing Fever
Increased total bilirubin, Elevated circulating creatinine concentration, Leukopenia, Leukocytosi... ORPHA:91547
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Bone marrow hypocellularity, Megaloblastic erythroid hyperplasia, Hypochromic ... ORPHA:75564
Immunodeficiency 91 And Hyperinflammation
Neutrophilia, Hemophagocytosis, Hepatosplenomegaly, Thrombocytopenia, Monocytosis, Elevated circu... OMIM:619644
Niemann-Pick Disease, Type B
Sea-blue histiocytosis, Decreased HDL cholesterol concentration, Increased LDL cholesterol concen... OMIM:607616
Neutropenia, Severe Congenital, 3, Autosomal Recessive
Clumsiness, Acute lymphoblastic leukemia, Neutropenia OMIM:610738
Infantile Sialic Acid Storage Disease
Osteopenia, Fair hair, Splenomegaly, Vacuolated lymphocytes, Conjugated hyperbilirubinemia OMIM:269920
Immunodeficiency 116
Absence of CD8-positive T cells OMIM:608957
Dyskeratosis Congenita, Autosomal Recessive 8
Bone marrow hypocellularity, Reduced natural killer cell count, Pancytopenia, Nail dystrophy, B l... OMIM:620133
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Splenomegaly, Hyperammonemia, Thrombocytopenia, Neutropenia, Anemia, Dystonia, Choreoathetosis ORPHA:79312
Immunodeficiency 76
Lymphopenia, T lymphocytopenia, Splenomegaly, B lymphocytopenia OMIM:619164
Immunodeficiency 48
Impaired lymphocyte transformation with phytohemagglutinin, Abnormal B cell count, Splenomegaly, ... OMIM:269840
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Alopecia, Decreased proportion of CD8-positive T cells, Lymphopenia, Hepatosplenomegaly, Decrease... ORPHA:169154
Neutropenia, Lethal Congenital, With Eosinophilia
Eosinophilia, Neutropenia OMIM:257100
Agammaglobulinemia 4, Autosomal Recessive
Neutropenia, Abnormal T cell morphology OMIM:613502
Refractory Anemia
Normocytic anemia, Bone marrow hypocellularity, Anemia of inadequate production, Macrocytic anemi... ORPHA:98826
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Abnormally low T cell receptor excision circle level, Reduced natural killer cell count, Lymphope... ORPHA:276
Bleeding Disorder, Platelet-Type, 9
Thrombocytopenia OMIM:614200
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Reduced natural killer cell count, T lymphocytopenia OMIM:242860
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Amegakaryocytic thrombocytopenia ORPHA:71289
Agammaglobulinemia 10, Autosomal Dominant
Transient neutropenia, Absent circulating B cells OMIM:619707
Hemophagocytic Syndrome Associated With An Infection
Ataxia, Hemophagocytosis, Increased circulating ferritin concentration, Pancytopenia, Abnormal T ... ORPHA:158048
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Bone marrow hypocellularity, Increased mean corpuscular volume, Pancytopenia, Acute myeloid leuke... OMIM:619041
Alpha-Thalassemia-Myelodysplastic Syndrome
Acute leukemia, HbH hemoglobin, Microcytic anemia, Splenomegaly, Neutropenia, Thrombocytopenia ORPHA:231401
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hypoalbuminemia, Hemophagocytosis, Increased circulating ferritin concentration, Increased total ... OMIM:267700
Bone Marrow Failure Syndrome 6
Osteopenia, Bone marrow hypocellularity, Increased mean corpuscular volume, Persistence of hemogl... OMIM:618849
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature
Lymphopenia, Leukopenia, Elevated circulating creatinine concentration, Long eyelashes, Reduced h... OMIM:301110
Bone Marrow Failure Syndrome 2
Anemia, Bone marrow hypocellularity, Leukopenia, Thrombocytopenia OMIM:615715
Immunodeficiency 46
Anemia, Neutropenia, Intermittent thrombocytopenia OMIM:616740
Cholestasis, Progressive Familial Intrahepatic, 12
Hyperbilirubinemia, Conjugated hyperbilirubinemia, Splenomegaly, Increased serum bile acid concen... OMIM:620010
Acute Myelomonocytic Leukemia
Anemia, Eosinophilia, Leukocytosis, Thrombocytopenia ORPHA:517
Immunodeficiency 84
Perianal abscess, Splenomegaly, B lymphocytopenia OMIM:619437
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Increased circulating iron concentration, Reduced red cell pyruvate kinase level, Increased circu... ORPHA:766
Megaloblastic Anemia, Folate-Responsive
Increased circulating ferritin concentration, Hypersegmentation of neutrophil nuclei, Folate-resp... OMIM:601775
Griscelli Syndrome Type 2
Hemophagocytosis, Premature graying of hair, Pancytopenia, Hyperlipidemia, Splenomegaly, Hyperton... ORPHA:79477
Macrophage Activation Syndrome
Hypoalbuminemia, Hemophagocytosis, Increased circulating ferritin concentration, Splenomegaly, Hy... ORPHA:158061
Pgm3-Cdg
Ataxia, Bone marrow hypocellularity, Reduced natural killer cell count, Abnormal CD4:CD8 ratio, C... ORPHA:443811
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Lymphopenia, Hypoplasia of the thymus OMIM:200900
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Anemia, Elevated circulating creatinine concentration, Hyperuricemia, Neutropenia OMIM:617056
Amegakaryocytic Thrombocytopenia, Congenital, 2
Bone marrow hypocellularity, Aplastic anemia, Pancytopenia, Thrombocytopenia, Neutropenia, Anemia... OMIM:620481
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Abnormally low T cell receptor excision circle level, B lymphocytopenia OMIM:618987
Immunodeficiency 67
Abnormal T cell count, Transient neutropenia, Abnormal B cell count, Abnormal natural killer cell... OMIM:607676
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Decreased proportion of memory B cells, Reduced natural killer cell count, Perianal abscess, Iron... OMIM:301074
Fanconi Anemia, Complementation Group V
Bone marrow hypocellularity, Thrombocytopenia, Neutropenia, Anemia, Elevated circulating alpha-fe... OMIM:617243
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Osteopenia, Hypocholesterolemia, Hypersplenism, Myoclonus, Splenomegaly, Thrombocytopenia, Anemia... OMIM:610539
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Lymphopenia, Chorea, Hemolytic anemia, Thrombocytopenia OMIM:616744
Anemia, Sideroblastic, 5
Reduced hematocrit, Hypochromic microcytic anemia, Thrombocytopenia, Anemia, Neutropenia OMIM:619523
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults
Acute myeloid leukemia, Neutropenia OMIM:607847
Myelolymphatic Insufficiency
Leukopenia, Hyposegmentation of neutrophil nuclei OMIM:310350
Immunodeficiency By Defective Expression Of Mhc Class Ii
Abnormal CD4:CD8 ratio, Pancytopenia, Decreased proportion of CD4-positive helper T cells, Autoim... ORPHA:572
Hermansky-Pudlak Syndrome 2
Albinism, Reduced natural killer cell count, Enlarged platelet dense granules, Fair hair, Hepatos... OMIM:608233
Persistent Polyclonal B-Cell Lymphocytosis
Lymphocytosis, Splenomegaly OMIM:606445
Sea-Blue Histiocyte Disease
Absent axillary hair, Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis OMIM:269600
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome
Thrombocytopenia, Iron deficiency anemia, Neutropenia, Increased mean platelet volume ORPHA:494444
Whim Syndrome 1
Neutropenia OMIM:193670
Congenital Amegakaryocytic Thrombocytopenia
Anemia, Abnormal hemoglobin, Thrombocytopenia, Decreased skull ossification ORPHA:3319
Vitamin B12-Unresponsive Methylmalonic Acidemia
Tetraparesis, Leukopenia, Hyperammonemia, Macrocytic anemia, Paraparesis, Thrombocytopenia, Ataxi... ORPHA:27
Immunodeficiency 68
Abnormal natural killer cell count, T lymphocytopenia, Abscess, B lymphocytopenia OMIM:612260
Agammaglobulinemia 8A, Autosomal Dominant
B lymphocytopenia OMIM:616941
Immunodeficiency 13
Lymphopenia, Decreased CD4:CD8 ratio, Decreased proportion of CD4-positive helper T cells, B lymp... OMIM:615518
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Lymphopenia, Splenomegaly, Autoimmune hemolytic anemia, Hemiparesis, Autoimmune thrombocytopenia,... ORPHA:444463
Episodic Ataxia, Type 1
Episodic ataxia, Incoordination, Tremor, Elevated circulating creatine kinase concentration, Babi... OMIM:160120
Hypermanganesemia With Dystonia 1
Spastic paraparesis, Polycythemia, Increased total iron binding capacity, Tremor, Rigidity, Dysto... OMIM:613280
Beemer Lethal Malformation Syndrome
Thrombocytopenia OMIM:209970
Specific Granule Deficiency 2
Osteopenia, Hirsutism, Absent neutrophil specific granules, Thrombocytopenia, Neutropenia, Anemia OMIM:617475
Autoimmune Disease, Multisystem, Infantile-Onset, 3
Abnormal T cell count, Hepatic hemophagocytosis, Abnormal B cell count, Autoimmune hemolytic anem... OMIM:620430
Immunodeficiency 114, Folate-Responsive
Increased circulating ferritin concentration, Lymphopenia, Splenomegaly, Megaloblastic anemia, Th... OMIM:620603
Wolcott-Rallison Syndrome
Hypoalbuminemia, Hyperbilirubinemia, Hyperammonemia, Hyponatremia, Lymphocytosis, Iron deficiency... ORPHA:1667
Immunodeficiency 98 With Autoinflammation, X-Linked
Bone marrow hypocellularity, Hemophagocytosis, Agranulocytosis, Autoimmune hemolytic anemia, Sple... OMIM:301078
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Thrombocytopenia OMIM:166990
Lymphoproliferative Syndrome 1
Hemophagocytosis, Increased circulating ferritin concentration, Pancytopenia, Leukopenia, Decreas... OMIM:613011
Wolfram Syndrome, Mitochondrial Form
Sideroblastic anemia, Neutropenia, Megaloblastic anemia, Thrombocytopenia OMIM:598500
Preeclampsia/Eclampsia 1
Thrombocytopenia OMIM:189800
Propionic Acidemia
Hyperglycinuria, Pancytopenia, Hyperglycinemia, Hyperammonemia, Limb hypertonia, Thrombocytopenia... OMIM:606054
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Reduced natural killer cell count, Cutaneous abscess, Hemiplegia, Decreased proportion of CD4-pos... OMIM:243700
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hemophagocytosis, Increased circulating ferritin concentration, Hepatosplenomegaly, Splenomegaly,... OMIM:613101
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Decreased proportion of CD8-positive T cells, Hypoplasia of the thymus, Decreased proportion of C... OMIM:617241
Cholestasis, Progressive Familial Intrahepatic, 10
Hypoalbuminemia, Increased total bilirubin, Splenomegaly, Increased serum bile acid concentration... OMIM:619868
Congenital Disorder Of Glycosylation, Type Iif
Ataxia, Aminoaciduria, Decreased platelet glycoprotein Ib, Thrombocytopenia, Neutropenia, Macroth... OMIM:603585
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hypoalbuminemia, Hemophagocytosis, Increased circulating ferritin concentration, Increased total ... OMIM:603553
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type
Homocystinuria, Spasticity, Hypomethioninemia, Megaloblastic anemia, Hyperhomocystinemia, Neutrop... OMIM:250940
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Hyperbilirubinemia, Reticulocytosis, Tremor, Ataxia, Hemolytic anemia, Decreased hemoglobin conce... ORPHA:713
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Homocystinuria, Elevated circulating propionylcarnitine concentration, Hypomethioninemia, Hyperho... OMIM:614857
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Leukocytosis, Reticulocytosis, Splenomegaly, Anisocytosis, Heinz bodies, Fava bean-induced hemoly... OMIM:300908
Diamond-Blackfan Anemia 8
Neutropenia, Increased mean corpuscular volume, Macrocytic anemia OMIM:612563
Amegakaryocytic Thrombocytopenia, Congenital, 1
Pancytopenia, Thrombocytopenia, Amegakaryocytic thrombocytopenia OMIM:604498
Immunodeficiency With Hyper-Igm, Type 3
Neutropenia OMIM:606843
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Hepatosplenomegaly, Congenital thrombocytopenia, Neutropenia, Thrombocytopenia, Anemia OMIM:616738
Immunodeficiency 104
T lymphocytopenia, Splenomegaly OMIM:608971
Thrombocytopenia 5
Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Neutropenia, Thrombocytopenia,... OMIM:616216
Lymphangiectasia, Intestinal
Neonatal hypoproteinemia, Lymphopenia, Abnormal hair morphology OMIM:152800
Immunodeficiency 55
Lymphopenia, Absent natural killer cells, Neutropenia OMIM:617827
Immunodeficiency 113 With Autoimmunity And Autoinflammation
Neutrophilia, Spasticity, Intraalveolar phospholipid accumulation, Leukocytosis, Autoimmune hemol... OMIM:620565
Aicardi-Goutieres Syndrome 3
Dystonia, Hepatosplenomegaly, Thrombocytopenia, Spasticity OMIM:610329
Forsythe-Wakeling Syndrome
Osteoporosis, Thrombocytopenia OMIM:613606
Immunodeficiency 62
Decreased proportion of memory B cells, Autoimmune thrombocytopenia, Increased proportion of tran... OMIM:618459
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Lymphopenia, T lymphocytopenia, Absent natural killer cells, Impaired lymphocyte transformation w... OMIM:600802
Immunodeficiency, Common Variable, 3
Decreased proportion of class-switched memory B cells, Abnormal T cell count, Abnormal B cell count OMIM:613493
Immunodeficiency 109 With Lymphoproliferation
Pancytopenia, Absent circulating B cells, Splenomegaly, Hypertriglyceridemia OMIM:620282
Hepatoportal Sclerosis
Hypoalbuminemia, Hypersplenism, Leukopenia, Hyperbilirubinemia, Splenomegaly, Thrombocytopenia, A... ORPHA:64743
Combined Oxidative Phosphorylation Deficiency 34
Elevated circulating creatinine concentration, Pancytopenia, Increased blood urea nitrogen OMIM:617872
Slc35A1-Cdg
Thrombocytopenia, Neutropenia, Giant platelets, Abnormal platelet granules ORPHA:238459
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Absent circulating B cells, Decreased proportion of class-switched memory B cells, Neutropenia, B... OMIM:619705
Aregenerative Anemia
Bone marrow hypocellularity, Pancytopenia, Decreased proportion of CD4-positive helper T cells, A... ORPHA:101096
Immunodeficiency 95
Lymphopenia OMIM:619773
Mosaic Variegated Aneuploidy Syndrome 4
Abnormality of chromosome stability OMIM:620153
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant
Macrothrombocytopenia OMIM:619840
Microcephalic Primordial Dwarfism, Toriello Type
Neutropenia ORPHA:2643
Reticular Dysgenesis
Lymphopenia, Leukopenia, Congenital agranulocytosis, Hypoplasia of the thymus OMIM:267500
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Decreased helper T cell proportion, Pancytopenia, Splenomegaly, Hypersplenism OMIM:183350
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Osteopenia, Reduced natural killer cell count, Hypertrichosis, Decreased proportion of CD4-positi... ORPHA:221139
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Decreased proportion of class-switched memory B cells, T lymphocytopenia, Increased proportion of... OMIM:615513
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Leukopenia, Hyperglycinemia, Hyperammonemia, Thrombocytopenia, Neutropenia, Methylmalonic acidemia OMIM:251000
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased proportion of CD8-positive T cells, Decreased proportion of CD4-positive helper T cells OMIM:611926
Noonan Syndrome 12
Lymphopenia, Thrombocytopenia OMIM:618624
Bilateral Striopallidodentate Calcinosis
Thrombocytopenia ORPHA:1980
Diffuse Alveolar Hemorrhage
Anemia, Elevated circulating creatinine concentration, Leukocytosis, Thrombocytopenia ORPHA:90060
Proteasome-Associated Autoinflammatory Syndrome 2
Decreased proportion of memory B cells, Thrombocytopenia, B lymphocytopenia, Elevated circulating... OMIM:618048
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Lymphopenia, T lymphocytopenia, B lymphocytopenia ORPHA:277
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Splenomegaly, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, ... ORPHA:231154
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Lymphopenia, Hypoproteinemia, Abnormal hair quantity ORPHA:1116
Harderoporphyria
Neonatal hyperbilirubinemia, Increased circulating ferritin concentration, Splenomegaly, Reticulo... OMIM:618892
Bone Marrow Failure Syndrome 4
Anemia, Bone marrow hypocellularity, Leukopenia, Thrombocytopenia OMIM:618116
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Lymphopenia, Autoimmune hemolytic anemia, Plasmacytosis OMIM:247800
Congenital Enterovirus Infection
Hypoalbuminemia, Leukopenia, Leukocytosis, Abnormal macrophage morphology, Hyperammonemia, Neutro... ORPHA:292
Onychotrichodysplasia And Neutropenia
Sparse pubic hair, Trichorrhexis nodosa, Curly eyelashes, Lymphocytosis, Neutropenia, Curly hair,... OMIM:258360
Osteopetrosis, Autosomal Recessive 5
Extramedullary hematopoiesis, Cranial hyperostosis, Increased bone mineral density, Hepatosplenom... OMIM:259720
Glut1 Deficiency Syndrome 2
Splenomegaly, Reticulocytosis, Tremor, Reduced haptoglobin level, Ataxia, Dystonia, Hemolytic ane... OMIM:612126
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
T lymphocytopenia, B lymphocytopenia OMIM:601457
Thrombotic Thrombocytopenic Purpura
Decreased serum creatinine, Thrombocytopenia, Reticulocytosis, Microangiopathic hemolytic anemia ORPHA:54057
Purine Nucleoside Phosphorylase Deficiency
Ataxia, Hypouricemia, Spasticity, Spastic paraparesis, Cerebral palsy, Abnormal central motor fun... ORPHA:760
Mitochondrial Complex I Deficiency, Nuclear Type 33
Spasticity, Hyperammonemia, Craniofacial dystonia, Neutropenia, Sparse hair OMIM:618253
Diamond-Blackfan Anemia 4
Erythroid hypoplasia, Reticulocytopenia, Neutropenia, Macrocytic anemia OMIM:612527
Leishmaniasis
Hypoalbuminemia, Pancytopenia, Leukopenia, Splenomegaly, Abnormal macrophage morphology, Thromboc... ORPHA:507
Aggressive Systemic Mastocytosis
Hepatosplenomegaly, Pancytopenia, Hypersplenism, Leukocytosis, Increased proportion of CD25+ mast... ORPHA:98850
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Lymphopenia, Eosinophilia ORPHA:2582
Dehydrated Hereditary Stomatocytosis 2
Increased mean corpuscular volume, Increased mean corpuscular hemoglobin concentration, Thrombocy... OMIM:616689
Immunodeficiency 115 With Autoinflammation
Hypoalbuminemia, Elevated haptoglobin level, Abnormal circulating creatine kinase concentration, ... OMIM:620632
Pelger-Huet Anomaly
Giant platelets, Hyposegmentation of neutrophil nuclei, Thrombocytopenia, Neutropenia, Abnormalit... OMIM:169400
Immunodeficiency, Common Variable, 1
Abnormal T cell count, Splenomegaly, Decreased proportion of class-switched memory B cells, Neutr... OMIM:607594
Thrombocytopenia 7
Reduced platelet alpha granules, Impaired arachidonic acid-induced platelet aggregation, Reduced ... OMIM:619130
Aicardi-Goutieres Syndrome 6
Splenomegaly, Tremor, Rigidity, Thrombocytopenia, Dystonia, Hemolytic anemia OMIM:615010
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Decreased proportion of CD4+CD25+ regulatory T cells, Lymphopenia, Autoimmune thrombocytopenia, D... OMIM:619846
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Abnormal T cell count, Lymphopenia, Hepatosplenomegaly, Decreased proportion of CD3-positive T ce... ORPHA:331206
Immunodeficiency 110 With Lymphoproliferation
Lymphopenia, Autoimmune hemolytic anemia, Neutropenia OMIM:614868
Congenital Disorder Of Glycosylation, Type Iik
Osteoporosis, Thrombocytopenia, Elevated circulating creatine kinase concentration OMIM:614727
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Splenomegaly, Abnormal hemoglobin, Thrombocytopenia, Anemia, Abnormal platelet function ORPHA:231393
Agammaglobulinemia 2, Autosomal Recessive
Absent circulating B cells, Abnormal T cell morphology OMIM:613500
Trichothiodystrophy 3, Photosensitive
Trichorrhexis nodosa, Lymphopenia, Tiger tail banding, Brittle hair, Hypertonia, Neutropenia OMIM:616395
Ceroid Lipofuscinosis, Neuronal, 5
Myoclonus, Dysmetria, Clumsiness, Limb tremor, Ataxia, Vacuolated lymphocytes, Dysdiadochokinesis OMIM:256731
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Autoimmune thrombocytopenia, Fluctuating splenomegaly, Neutropenia in presence of anti-neutropil ... OMIM:619220
Acquired Partial Lipodystrophy
Generalized hirsutism, Lymphocytosis ORPHA:79087
Leukodystrophy, Hypomyelinating, 24
Tongue fasciculations, B lymphocytopenia OMIM:619851
Purine Nucleoside Phosphorylase Deficiency
Hypouricemia, Tetraparesis, Lymphopenia, Autoimmune hemolytic anemia, Splenomegaly, Tremor, Incre... OMIM:613179
Mu-Heavy Chain Disease
Abnormal B cell count, Splenomegaly, Anemia, Osteoporosis, Osteolysis ORPHA:100024
Immunodeficiency 69
Hemophagocytosis, Increased circulating ferritin concentration, Hepatosplenomegaly, Pancytopenia,... OMIM:618963
Ghosal Hematodiaphyseal Dysplasia
Bone marrow hypocellularity, Hyperostosis cranialis interna, Leukopenia, Thrombocytopenia, Myelof... OMIM:231095
Immunodeficiency 7
Hypereosinophilia, Splenomegaly, Autoimmune hemolytic anemia, Patchy alopecia, Neutropenia OMIM:615387
Isovaleric Acidemia
Hyperglycinuria, Bone marrow hypocellularity, Pancytopenia, Leukopenia, Thrombocytopenia, Elevate... OMIM:243500
Methylmalonic Aciduria, Cblb Type
Elevated circulating propionylcarnitine concentration, Pancytopenia, Hyperglycinemia, Hyperammone... OMIM:251110
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7
Osteopenia, Premature graying of hair, Lymphopenia, Nail dystrophy, Thrombocytopenia, Anemia OMIM:620365
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Alopecia, Decreased FOXP3-expressing T cell count, Eosinophilia, Coombs-positive hemolytic anemia... OMIM:304790
Methylmalonic Aciduria, Cbla Type
Pancytopenia, Hyperglycinemia, Hyperammonemia, Tremor, Thrombocytopenia, Neutropenia, Anemia, Met... OMIM:251100
Immunodeficiency, Common Variable, 13
Pancytopenia, Acute lymphoblastic leukemia, B lymphocytopenia OMIM:616873
Methylcobalamin Deficiency Type Cble
Increased mean corpuscular volume, Pancytopenia, Macrocytic anemia, Hypomethioninemia, Hyperhomoc... ORPHA:2169
Glycogen Storage Disease Vii
Increased total bilirubin, Reduced erythrocyte 2,3-diphosphoglycerate concentration, Reticulocyto... OMIM:232800
Dyskeratosis Congenita, Autosomal Dominant 2
Bone marrow hypocellularity, Aplastic anemia, Premature graying of hair, Pancytopenia, Leukopenia... OMIM:613989
Sickle Cell Anemia
Splenic infarction, Hypochromic anemia, Increased mean corpuscular volume, Unconjugated hyperbili... ORPHA:232
Bile Acid Synthesis Defect, Congenital, 5
Increased total iron binding capacity, Hyperbilirubinemia, Splenomegaly, Increased serum bile aci... OMIM:616278
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Absent natural killer cells, Lymphopenia, Hepatosplenomegaly, Impaired lymphocyte transformation ... ORPHA:35078
Neutropenia, Severe Congenital, 8, Autosomal Dominant
Neutropenia OMIM:618752
Griscelli Syndrome
Silver-gray hair, Bone marrow hypocellularity, Spasticity, Abnormal circulating lipid concentrati... ORPHA:381
Omenn Syndrome
Alopecia, Splenomegaly, Hypoplasia of the thymus, Eosinophilia, Anemia, Thrombocytopenia, B lymph... OMIM:603554
Progressive Multifocal Leukoencephalopathy
Decreased proportion of CD8-positive T cells, Gait ataxia, Hemiplegia/hemiparesis, Dysmetria, Par... ORPHA:217260
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To
Reduced erythrocyte adenosine triphosphate concentration, Stomatocytosis, Erythroid hyperplasia, ... OMIM:301083
Immunodeficiency, Common Variable, 4
Abnormal T cell count OMIM:613494
Cyclic Neutropenia
Lymphopenia, Cyclic neutropenia, Perianal abscess, Tooth abscess, Thrombocytopenia, Decreased eos... ORPHA:2686
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Hyperbilirubinemia, Splenomegaly, Reticulocytosis, Nonspherocytic hemolytic an... OMIM:235700
Nephrotic Syndrome, Type 7
Hypoalbuminemia, Hemolytic anemia, Thrombocytopenia OMIM:615008
Autoimmune Lymphoproliferative Syndrome
Autoimmune hemolytic anemia, Splenomegaly, Elevated proportion of CD4-negative, CD8-negative, alp... OMIM:601859
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Giant platelets, Leukocyte inclusion bodies, Impaired ADP-induced platelet aggregation, Thrombocy... OMIM:155100
Anemia, Congenital Dyserythropoietic, Type Iv
Increased RBC distribution width, Persistence of hemoglobin F, Hepatosplenomegaly, Reduced hemato... OMIM:613673
Erythroleukemia, Familial, Susceptibility To
Erythroid hyperplasia, Splenomegaly, Anemia, Acute myeloid leukemia, Thrombocytopenia, Leukemia OMIM:133180
Immunodeficiency, Common Variable, 6
Abnormal T cell count, Autoimmune thrombocytopenia, Abnormal B cell count OMIM:613496
3-Methylglutaconic Aciduria, Type Viib
Ataxia, Spasticity, Leukopenia, Myoclonus, Tremor, Hyperkinetic movements, Opisthotonus, Thromboc... OMIM:616271
Refractory Anemia With Excess Blasts
Abnormal mean corpuscular volume, Bone marrow hypocellularity, Leukocytosis, Anemia of inadequate... ORPHA:86839
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Increased circulating ferritin concentration, Hepatosplenomegaly, Erythroid hyperplasia, Splenome... OMIM:616860
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Homocystinuria, Cystathioninemia, Cystathioninuria, Elevated circulating propionylcarnitine conce... OMIM:277380
Atypical Hemolytic Uremic Syndrome
Thrombocytopenia, Microangiopathic hemolytic anemia ORPHA:2134
Amed Syndrome, Digenic
Bone marrow hypocellularity, Leukopenia, Acute myeloid leukemia, Thrombocytopenia, Anemia OMIM:619151
Dyskeratosis Congenita, Autosomal Dominant 3
Ataxia, Osteopenia, Bone marrow hypocellularity, Alopecia, Aplastic anemia, Fine hair, Premature ... OMIM:613990
Thrombocytopenia 9
Abnormal platelet aggregation, Thrombocytopenia OMIM:620478
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Hyponatremia, Paralysis, Leukocytosis, Thrombocytopenia ORPHA:83601
Immunodeficiency 70
Decreased proportion of CD4-positive helper T cells, B lymphocytopenia OMIM:618969
Chronic Myeloid Leukemia
Abnormal granulocyte morphology, Leukocytosis, Splenomegaly, Abnormal basophil morphology, Thromb... ORPHA:521
Spherocytosis, Type 4
Hyperbilirubinemia, Splenomegaly, Reticulocytosis, Spherocytosis, Hemolytic anemia OMIM:612653
Poikiloderma With Neutropenia
Sparse eyebrow, Sparse lateral eyebrow, Leukopenia, Splenomegaly, Nail dystrophy, Elevated circul... OMIM:604173
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Hypersegmentation of neutrophil nuclei, Lymphopenia, Pancytopenia, Macrocytic anemia, Anemia of i... OMIM:617780
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Lymphopenia, Hepatosplenomegaly, Leukopenia, Splenomegaly, Erythroid hypoplasia, Hypoplasia of th... OMIM:612541
Myopathy With Extrapyramidal Signs
Extremely elevated creatine kinase, Chorea, Leukocytosis, Splenomegaly, Tremor, Abnormality of ex... OMIM:615673
Immunodeficiency, Common Variable, 11
Abnormal T cell count, Decreased proportion of class-switched memory B cells OMIM:615767
Sneddon Syndrome
Lymphopenia, Hemiplegia, Tremor OMIM:182410
Phosphoglycerate Dehydrogenase Deficiency
Hypertonia, Megaloblastic anemia, Spastic tetraplegia, Thrombocytopenia OMIM:601815
Polycythemia Vera
Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Increased circul... OMIM:263300
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Lymphopenia, Hypoproteinemia OMIM:207731
Atelis Syndrome 1
Anemia, Leukopenia, Hypertonia, Thrombocytopenia OMIM:620184
Roch-Leri Mesosomatous Lipomatosis
Thrombocytopenia ORPHA:529
Dehydrated Hereditary Stomatocytosis
Neonatal hyperbilirubinemia, Increased mean corpuscular volume, Polycythemia, Increased mean corp... ORPHA:3202
Agammaglobulinemia 8B, Autosomal Recessive
B Acute Lymphoblastic Leukemia, Pancytopenia, Splenomegaly, Increased proportion of effector memo... OMIM:619824
Chediak-Higashi Syndrome
Ataxia, Silver-gray hair, Hemophagocytosis, Leukopenia, Giant neutrophil granules, Splenomegaly, ... OMIM:214500
Spherocytosis, Type 2
Hyperbilirubinemia, Acanthocytosis, Splenomegaly, Reticulocytosis, Spherocytosis, Hemolytic anemia OMIM:616649
Felty Syndrome
Splenomegaly, Neutropenia OMIM:134750
Ziegler-Huang Syndrome
Bone marrow hypocellularity, Neutropenia, Macrocytic anemia, Persistence of hemoglobin F OMIM:620501
Combined Immunodeficiency Due To Dock8 Deficiency
T lymphocytopenia, B lymphocytopenia ORPHA:217390
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency
Aminoaciduria, Bone marrow hypocellularity, Thrombocytopenia, Neutropenia, Anemia OMIM:614520
X-Linked Agammaglobulinemia
Alopecia, Hypocalcemia, Thrombocytopenia, Neutropenia, Anemia, Recurrent cutaneous abscess formation ORPHA:47
Hermansky-Pudlak Syndrome 9
Leukopenia, Abnormal platelet aggregation, Thrombocytopenia OMIM:614171
Babesiosis
Leukopenia, Hemolytic anemia, Splenomegaly, Thrombocytopenia ORPHA:108
Thyrocerebrorenal Syndrome
Nonprogressive cerebellar ataxia, Myoclonus, Thrombocytopenia, Slurred speech ORPHA:3327
Immunodeficiency 44
Lymphopenia OMIM:616636
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Decreased proportion of memory B cells, Hepatosplenomegaly, Pancytopenia, Paraplegia, Hemiparesis... ORPHA:79124
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Increased B cell count, Hepatosplenomegaly, Increased proportion of memory T cells OMIM:618982
Agammaglobulinemia 6, Autosomal Recessive
Abnormal T cell morphology, B lymphocytopenia OMIM:612692
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Hypomagnesemia, Pancytopenia, Leukopenia, Hyperuricemia, Hyponatremia, Increased blood urea nitro... OMIM:613845
Crigler-Najjar Syndrome Type 1
Unconjugated hyperbilirubinemia, Neonatal hyperbilirubinemia, Tremor ORPHA:79234
Isolated Agammaglobulinemia
Abnormal lymphocyte morphology, Thrombocytopenia, Anemia, Abnormality of neutrophils, Recurrent c... ORPHA:229717
Transcobalamin Ii Deficiency
Pancytopenia, Macrocytic anemia, Erythroid hypoplasia, Reticulocytopenia, Hyperhomocystinemia, Ne... OMIM:275350
3-Methylglutaconic Aciduria Type 7
Bone marrow hypocellularity, Spasticity, Infection associated neutropenia, Myoclonus, Abnormality... ORPHA:445038
Schimke Immuno-Osseous Dysplasia
Bone marrow hypocellularity, Abnormal proportion of naive CD4 T cells, Lymphopenia, Hemiplegia, H... ORPHA:1830
Immunodeficiency 26 With Or Without Neurologic Abnormalities
T lymphocytopenia, Abnormal natural killer cell morphology, B lymphocytopenia OMIM:615966
Felty Syndrome
Bone marrow hypocellularity, Abnormal lymphocyte morphology, Splenomegaly, Thrombocytopenia, Neut... ORPHA:47612
Spherocytosis, Type 1
Hyperbilirubinemia, Splenomegaly, Reticulocytosis, Spherocytosis, Hemolytic anemia OMIM:182900
Bleeding Disorder, Platelet-Type, 19
Anemia, Macrothrombocytopenia, Thrombocytopenia OMIM:616176
Congenital Dyserythropoietic Anemia Type Iii
Increased circulating iron concentration, Increased mean corpuscular volume, Increased total iron... ORPHA:98870
Acute Promyelocytic Leukemia
Pancytopenia, Leukopenia, Leukocytosis, Neutropenia, Thrombocytopenia, Anemia ORPHA:520
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections
Reduced circulating C-reactive protein concecntration, Decreased proportion of class-switched mem... OMIM:618944
Pyruvate Kinase Deficiency Of Red Cells
Reduced red cell pyruvate kinase level, Erythroid hyperplasia, Reticulocytosis, Splenomegaly, Red... OMIM:266200
Autoimmune Lymphoproliferative Syndrome, Type Iia
Autoimmune hemolytic anemia, Splenomegaly, Elevated proportion of CD4-negative, CD8-negative, alp... OMIM:603909
Developmental And Epileptic Encephalopathy 66
Anemia, Neutropenia, Synophrys OMIM:618067
Idiopathic Aplastic Anemia
Bone marrow hypocellularity, Pancytopenia, Reticulocytopenia, Thrombocytopenia, Neutropenia, Anemia ORPHA:88
Developmental Delay, Hypotonia, And Impaired Language
Neutropenia, Ataxia OMIM:620012
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia
Macrothrombocytopenia, Thrombocytopenia, Impaired platelet aggregation OMIM:124900
Anemia, Congenital Dyserythropoietic, Type Ia
Macrocytic dyserythropoietic anemia, Erythroid hyperplasia, Hyperbilirubinemia, Reticulocytosis, ... OMIM:224120
Osteopetrosis, Autosomal Recessive 9
Cortical sclerosis, Elevated circulating creatinine concentration, Osteopetrosis, Anemia, Increas... OMIM:620366
Gray Platelet Syndrome
Abnormality of thrombocytes, Splenomegaly, Thrombocytopenia ORPHA:721
Specific Granule Deficiency 1
Increased neutrophil mitochondria, Increased neutrophil ribosomes, Absent neutrophil lactoferrin,... OMIM:245480
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy
Spasticity, Microcytic anemia, Elevated circulating creatine kinase concentration, Neutropenia, H... OMIM:251900
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Bone marrow hypocellularity, Lymphopenia, Leukopenia, Reticulocytopenia, B lymphocytopenia, Neutr... ORPHA:508542
Immunodeficiency 9
Lymphopenia, Hypoplasia of the thymus, Abnormal natural killer cell count OMIM:612782
B-Cell Expansion With Nfkb And T-Cell Anergy
Increased B cell count, Splenomegaly OMIM:616452
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Abnormal reticulocyte morphology, Bone marrow hypocellularity, Impaired platelet aggregation, Ell... OMIM:300835
Fetal Parvovirus Syndrome
Anemia, Thrombocytopenia ORPHA:295
Thrombotic Thrombocytopenic Purpura, Hereditary
Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Reticulocytosis... OMIM:274150
Immunodeficiency 36 With Lymphoproliferation
Lymphopenia, Splenomegaly, Chronic lymphatic leukemia, Increased proportion of transitional B cel... OMIM:616005
Cholestasis-Lymphedema Syndrome
Hyperlipidemia, Splenomegaly, Conjugated hyperbilirubinemia OMIM:214900
Rh-Null, Amorph Type
Stomatocytosis, Hyperbilirubinemia, Reticulocytosis, Anisocytosis, Hemolytic anemia OMIM:617970
Dk Phocomelia Syndrome
Thrombocytopenia OMIM:223340
Familial Hemophagocytic Lymphohistiocytosis
Hypoalbuminemia, Hemophagocytosis, Increased circulating ferritin concentration, Splenomegaly, Hy... ORPHA:540
Barth Syndrome
Elevated monolysocardiolipin/cardiolipin ratio, Fair hair, Cyclic neutropenia, Hypochromic microc... OMIM:302060
Immunodeficiency 23
Lymphopenia, Myoclonus, Abscess, Eosinophilia, Neutropenia, Ataxia, Cortical myoclonus, Hemolytic... OMIM:615816
Immunodeficiency 75 With Lymphoproliferation
Hepatosplenomegaly, Decreased proportion of class-switched memory B cells OMIM:619126
Transaldolase Deficiency
Hepatosplenomegaly, Abnormal circulating glutamine concentration, Increased serum bile acid conce... ORPHA:101028
Schimke Immunoosseous Dysplasia
Osteopenia, Coarse hair, Fine hair, Lymphopenia, Pancytopenia, Abnormal T cell morphology, Thromb... OMIM:242900
Hypercholanemia, Familial, 2
Osteopenia, Unconjugated hyperbilirubinemia, Increased serum bile acid concentration OMIM:619256
Hereditary Spherocytosis
Spontaneous hemolytic crises, Increased mean corpuscular hemoglobin concentration, Extramedullary... ORPHA:822
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To
Hyperbilirubinemia, Hemolytic anemia, Reticulocytosis OMIM:266120
Immunodeficiency 82 With Systemic Inflammation
Hypoalbuminemia, Reduced natural killer cell count, Osteomalacia, Decreased proportion of naive T... OMIM:619381
Epidermodysplasia Verruciformis, Susceptibility To, 5
Lymphopenia, T lymphocytopenia OMIM:618309
Combined Immunodeficiency Due To Zap70 Deficiency
Decreased proportion of CD8-positive T cells, Hepatosplenomegaly, Autoimmune hemolytic anemia, Eo... ORPHA:911
Chédiak-Higashi Syndrome
Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Parkinsonism, Neutropenia, Ataxia, Hypoprotei... ORPHA:167
Cartilage-Hair Hypoplasia
Sparse eyebrow, Fair hair, Fine hair, Lymphopenia, Macrocytic anemia, Sparse eyelashes, Sparse fa... OMIM:250250
Aicardi-Goutieres Syndrome 4
Spasticity, Hepatosplenomegaly, Pancytopenia, Splenomegaly, Thrombocytopenia, Dystonia OMIM:610333
Ataxia-Telangiectasia
Spasticity, Premature graying of hair, Lymphopenia, Tremor, Ataxia, Hypopigmentation of hair ORPHA:100
Pseudo-Torch Syndrome 3
Anemia, Leukocytosis, Congenital thrombocytopenia, Increased circulating ferritin concentration OMIM:618886
Neonatal Alloimmune Neutropenia
Neutropenia in presence of anti-neutropil antibodies ORPHA:464370
Mucopolysaccharidosis-Plus Syndrome
Hypoalbuminemia, Bone marrow hypocellularity, Coarse hair, Leukopenia, Long eyelashes, Splenomega... OMIM:617303
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Hyperlipidemia,... OMIM:235400
Fetal Cytomegalovirus Syndrome
Anemia, Conjugated hyperbilirubinemia, Splenomegaly, Thrombocytopenia ORPHA:294
Bleeding Disorder, Platelet-Type, 22
Impaired arachidonic acid-induced platelet aggregation, Impaired ADP-induced platelet aggregation... OMIM:618462
Platelet Signal Processing Defect
Impaired collagen-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Thromb... OMIM:173590
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Increased blood... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Increased blood... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Increased blood... OMIM:612926
Fraxf Syndrome
Folate-dependent fragile site at Xq28 ORPHA:100974
Immunodeficiency 17
Decreased proportion of CD8-positive T cells, Abnormal B cell morphology, T lymphocytopenia, Auto... OMIM:615607
Imerslund-Gräsbeck Syndrome
Anisopoikilocytosis, Hypersegmentation of neutrophil nuclei, Pancytopenia, Reticulocytosis, Macro... ORPHA:35858
Bleeding Disorder, Platelet-Type, 16
Platelet anisocytosis, Giant platelets, Thrombocytopenia, Impaired platelet aggregation, Anemia, ... OMIM:187800
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia OMIM:252270
3-Methylglutaconic Aciduria, Type Viia
Anemia, Neutropenia, Anisopoikilocytosis OMIM:619835
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Decreased proportion of memory B cells, B lymphocytopenia ORPHA:70593
Sandhoff Disease, Adult Form
Spasticity, Fasciculations, Gait ataxia, Tremor, Elevated circulating creatine kinase concentrati... ORPHA:309169
Gaucher Disease, Type Iii
Spastic paraparesis, Pancytopenia, Myoclonus, Splenomegaly, Thrombocytopenia, Ataxia OMIM:231000
Autoinflammatory Disease, Systemic, X-Linked
Hepatosplenomegaly, Neutropenia, B lymphocytopenia OMIM:301081
Systemic Lupus Erythematosus
Leukopenia, Hemolytic anemia, Thrombocytopenia OMIM:152700
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of memory ... OMIM:615559
Congenital Disorder Of Glycosylation, Type Ih
Anemia, Elevated circulating creatinine concentration, Thrombocytopenia, Hypoalbuminemia OMIM:608104
Neonatal Lupus Erythematosus
Aplastic anemia, Pancytopenia, Splenomegaly, Neutropenia, Thrombocytopenia, Anemia, Hemolytic anemia ORPHA:398124
Rh Deficiency Syndrome
Stomatocytosis, Hepatosplenomegaly, Hyperbilirubinemia, Reticulocytosis, Macrocytic anemia, Aniso... ORPHA:71275
Cerebroretinal Microangiopathy With Calcifications And Cysts 2
Abnormally low T cell receptor excision circle level, Osteopenia, Spasticity, Bone marrow hypocel... OMIM:617341
Von Willebrand Disease, Platelet-Type
Intermittent thrombocytopenia OMIM:177820
Deafness-Lymphedema-Leukemia Syndrome
Bone marrow hypocellularity, Acute leukemia, Leukocytosis, Splenomegaly, Thrombocytopenia, Abnorm... ORPHA:3226
3-Methylglutaconic Aciduria Type 4
Spasticity, Thrombocytopenia ORPHA:67048
Dyskeratosis Congenita, Autosomal Dominant 1
Bone marrow hypocellularity, Alopecia, Increased mean corpuscular volume, Aplastic anemia, Premat... OMIM:127550
Platelet Glycoprotein Iv Deficiency
Giant platelets, Thrombocytopenia OMIM:608404
Necrotizing Enterocolitis
Hyponatremia, Thrombocytopenia, Leukocytosis, Neutropenia ORPHA:391673
Thrombocytopenia 2
Abnormal platelet shape, Abnormal platelet volume, Leukocytosis, Thrombocytopenia OMIM:188000
Immunodeficiency 40
T lymphocytopenia, Eosinophilic granuloma, Thrombocytopenia OMIM:616433
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Increased blood... OMIM:612925
Preeclampsia
Elevated circulating creatinine concentration, Thrombocytopenia ORPHA:275555
Overhydrated Hereditary Stomatocytosis
Stomatocytosis, Increased mean corpuscular volume, Hyperbilirubinemia, Splenomegaly, Reticulocyto... OMIM:185000
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Increased blood... OMIM:612924
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hepatosplenomegaly, Hyperbilirubinemia, Hyperthreoninemia, Increased LDL cholesterol concentratio... ORPHA:247598
Dengue Fever
Leukopenia, Hypoproteinemia, Thrombocytopenia ORPHA:99828
Congenital Bile Acid Synthesis Defect Type 2
Rickets, Extramedullary hematopoiesis, Hyperbilirubinemia, Abnormal serum bile acid concentration... ORPHA:79303
Spondyloenchondrodysplasia With Immune Dysregulation
Spasticity, Lymphopenia, Sclerosis of skull base, T lymphocytopenia, Progressive spastic quadripl... OMIM:607944
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6
Abnormally low T cell receptor excision circle level, Bone marrow hypocellularity, Premature gray... OMIM:619767
Hemangioma-Thrombocytopenia Syndrome
Thrombocytopenia, Hyperkalemia, Microangiopathic hemolytic anemia OMIM:141000
Thyrocerebroretinal Syndrome
Myoclonus, Slurred speech, Thrombocytopenia, Ataxia OMIM:274240
Tafro Syndrome
Hepatosplenomegaly, Leukocytosis, Splenomegaly, Elevated circulating C-reactive protein concentra... ORPHA:457077
Agammaglobulinemia 9, Autosomal Recessive
Absent circulating B cells, Thrombocytopenia OMIM:619693
Cohen Syndrome
Leukopenia, Thick eyebrow, Neutropenia OMIM:216550
Immunodeficiency 81
Abnormally low T cell receptor excision circle level, Autoimmune hemolytic anemia, Abscess, Decre... OMIM:619374
Immunodeficiency 64 With Lymphoproliferation
Increased proportion autoreactive unresponsive CD21-/low B cells, Abnormal CD4:CD8 ratio, Hepatos... OMIM:618534
Avian Influenza
Hypoalbuminemia, Lymphopenia, Leukopenia, Elevated circulating creatine kinase concentration, Thr... ORPHA:454836
Overlap Myositis
Abnormal circulating lipid concentration, Tetraparesis, Leukopenia, Elevated circulating creatine... ORPHA:206572
Sea-Blue Histiocytosis
Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis ORPHA:158029
Immunodeficiency 92
Thrombocytosis, Leukocytosis, Lymphocytosis, Decreased proportion of class-switched memory B cell... OMIM:619652
Letterer-Siwe Disease
Anemia, Hepatosplenomegaly, Neutropenia, Thrombocytopenia OMIM:246400
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Leukocytosis, R... ORPHA:90038
Cystic Echinococcosis
Peritoneal abscess, Hyperbilirubinemia, Splenic cyst, Abscess, Eosinophilia, Bone cyst ORPHA:400
Methylmalonic Acidemia With Homocystinuria Type Cblf
Megaloblastic anemia, Hyperhomocystinemia, Neutropenia, Elevated circulating palmitoleylcarnitine... ORPHA:79284
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)
Thick eyebrow, Hyperammonemia, Hyperalaninemia, Neutropenia, Ataxia, Dystonia, Choreoathetosis OMIM:615471
Edinburgh Malformation Syndrome
Frontal hirsutism, Neonatal hyperbilirubinemia OMIM:129850
Congenital Disorder Of Glycosylation, Type Iic
Reduction of neutrophil motility, Widow's peak, Neutrophilia OMIM:266265
Reynolds Syndrome
Lymphopenia, Hyperbilirubinemia, Splenomegaly, Calcinosis OMIM:613471
Fanconi Anemia, Complementation Group T
Bone marrow hypocellularity, Pancytopenia, Acute myeloid leukemia, Thrombocytopenia, Anemia OMIM:616435
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome
Alopecia, Neonatal hyperbilirubinemia, Long eyelashes, Ataxia, Sparse hair ORPHA:3363
Drug-Induced Autoimmune Hemolytic Anemia
Increased total bilirubin, Splenomegaly, Autoimmune hemolytic anemia ORPHA:90037
Non-Involuting Congenital Hemangioma
Thrombocytopenia ORPHA:141179
Bleeding Disorder, Platelet-Type, 20
Thrombocytopenia OMIM:616913
Von Willebrand Disease, Type 2
Thrombocytopenia OMIM:613554
Caroli Syndrome
Hypersplenism, Leukopenia, Leukocytosis, Hyperbilirubinemia, Thrombocytopenia, Conjugated hyperbi... ORPHA:480520
Rhabdoid Tumor
Cerebral palsy, Hemiplegia, Thrombocytopenia, Anemia, Hypercalcemia ORPHA:69077
Hereditary Elliptocytosis
Neonatal hyperbilirubinemia, Stomatocytosis, Abnormal erythrocyte morphology, Congenital hemolyti... ORPHA:288
Giant platelet syndrome with thrombocytopenia
Giant platelets, Thrombocytopenia OMIM:137560
Moyamoya Disease With Early-Onset Achalasia
Abnormal platelet aggregation, Thrombocytopenia ORPHA:401945
Psoriasis 14, Pustular
Elevated circulating C-reactive protein concentration, Leukocytosis, Nail dystrophy, Neutrophilia OMIM:614204
Crigler-Najjar Syndrome Type 2
Unconjugated hyperbilirubinemia, Neonatal hyperbilirubinemia ORPHA:79235
Bleeding Disorder, Platelet-Type, 24
Platelet anisocytosis, Impaired arachidonic acid-induced platelet aggregation, Impaired epinephri... OMIM:619271
Ataxia-Telangiectasia
Progressive cerebellar ataxia, Elevated circulating alpha-fetoprotein concentration, Dysdiadochok... OMIM:208900
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Hypoalbuminemia, Alopecia, Hypomagnesemia, Autoimmune hemolytic anemia, Splenomegaly, Hypocalcemi... ORPHA:37042
Herpes Simplex Virus Encephalitis
Elevated circulating C-reactive protein concentration, Hyponatremia, Leukocytosis, Neutrophilia ORPHA:1930
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hepatosplenomegaly, Elliptocytosis, Reticulocytosis, Leukocytosis, Anisocytosis, Myoclonus, Tetra... OMIM:618278
Diffuse Neonatal Hemangiomatosis
Anemia, Hypercalcemia, Thrombocytopenia ORPHA:2123
Gamma-Heavy Chain Disease