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Gene: Bcl2l1 MGI:88139

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Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
BCL2-like 1
Synonyms:
Bcl(X)L,  Bcl-Xs,  bcl-x,  Bcl-XL,  BclX

Order Alleles

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

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.

Phenotype associated images not available

Human diseases caused by Bcl2l1 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 Bcl2l1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant
Macrothrombocytopenia OMIM:619840
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant
Macrothrombocytopenia, Impaired platelet aggregation OMIM:613112
Thrombocytopenia 7
Reduced platelet alpha granules, Impaired arachidonic acid-induced platelet aggregation, Reduced ... OMIM:619130
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Splenomegaly, Abnormal hemoglobin, Thrombocytopenia, Anemia, Abnormal platelet function ORPHA:231393
Von Willebrand Disease, Platelet-Type
Prolonged bleeding time, Intermittent thrombocytopenia OMIM:177820
Thrombocytopenia 9
Abnormal platelet aggregation, Thrombocytopenia OMIM:620478
Athrombia, Essential
Impaired platelet adhesion, Prolonged bleeding time, Impaired platelet aggregation OMIM:209050
Bleeding Disorder, Platelet-Type, 9
Thrombocytopenia OMIM:614200
Bleeding Disorder, Platelet-Type, 15
Platelet anisocytosis, Impaired clot retraction, Impaired ADP-induced platelet aggregation, Throm... OMIM:615193
Thrombocythemia 1
Impaired ADP-induced platelet aggregation, Splenomegaly, Thrombocytosis, Impaired collagen-induce... OMIM:187950
Thrombocytopenia 4
Abnormal platelet volume, Thrombocytopenia OMIM:612004
Platelet Signal Processing Defect
Impaired collagen-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Thromb... OMIM:173590
Bleeding Disorder, Platelet-Type, 24
Platelet anisocytosis, Impaired arachidonic acid-induced platelet aggregation, Impaired epinephri... OMIM:619271
Immune Thrombocytopenia
Thrombocytopenia OMIM:188030
Spermatogenic Failure 57
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility, Decreased testi... OMIM:619528
Partial Chromosome Y Deletion
Decreased testicular size, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal... ORPHA:1646
Spermatogenic Failure 25
Cryptozoospermia, Non-obstructive azoospermia, Decreased testicular size, Spermatocyte maturation... OMIM:617960
Spermatogenic Failure 32
Sertoli cell-only phenotype, Non-obstructive azoospermia, Male infertility OMIM:618115
Spermatogenic Failure 71
Sertoli cell-only phenotype, Non-obstructive azoospermia, Male infertility OMIM:619831
Spermatogenic Failure 35
Absent sperm axoneme central pair complex, Short sperm flagella, Absent sperm flagella, Male infe... OMIM:618341
Spermatogenic Failure 63
Decreased testicular size, Reduced progressive sperm motility, Oligozoospermia, Male infertility OMIM:619689
Spermatogenic Failure 20
Male infertility, Short sperm flagella, Absent sperm flagella, Coiled sperm flagella OMIM:617593
Platelet Glycoprotein Iv Deficiency
Giant platelets, Prolonged bleeding time, Thrombocytopenia OMIM:608404
Spermatogenic Failure 50
Spermatogenesis maturation arrest, Decreased testicular size, Azoospermia, Male infertility OMIM:619145
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia
Macrothrombocytopenia, Thrombocytopenia, Impaired platelet aggregation OMIM:124900
Immunodeficiency 24
Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine... OMIM:615897
Monocyte Chemotactic Disorder
Cutaneous anergy OMIM:252250
Isochromosomy Yp
Decreased testicular size, Azoospermia, Ambiguous genitalia, Primary gonadal insufficiency, Male ... ORPHA:98797
Bleeding Disorder, Platelet-Type, 16
Platelet anisocytosis, Giant platelets, Thrombocytopenia, Impaired platelet aggregation, Anemia, ... OMIM:187800
Spermatogenic Failure 72
Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Reduced progressive spe... OMIM:619867
Spermatogenic Failure 34
Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Short sperm flagella, A... OMIM:618153
Glanzmann Thrombasthenia 2
Decreased platelet glycoprotein IIb-IIIa, Impaired clot retraction, Impaired ADP-induced platelet... OMIM:619267
Spermatogenic Failure 30
Cryptozoospermia, Azoospermia, Cryptorchidism, Spermatogenesis maturation arrest, Male infertility OMIM:618110
Bleeding Disorder, Platelet-Type, 22
Impaired arachidonic acid-induced platelet aggregation, Impaired ADP-induced platelet aggregation... OMIM:618462
Spermatogenic Failure 37
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... OMIM:618429
Spermatogenic Failure 18
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... OMIM:617576
Spermatogenic Failure 33
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... OMIM:618152
Spermatogenic Failure 46
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... OMIM:619095
Spermatogenic Failure 27
Absent sperm axoneme central pair complex, Short sperm flagella, Absent sperm flagella, Reduced s... OMIM:617965
Retinal Telangiectasia And Hypogammaglobulinemia
Reduced delayed hypersensitivity, Decreased circulating IgG level OMIM:267900
Spermatogenic Failure 43
Absent sperm axoneme central pair complex, Absent sperm flagella, Reduced sperm motility, Male in... OMIM:618751
Spermatogenic Failure 19
Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... OMIM:617592
Spermatogenic Failure 82
Reduced progressive sperm motility, Short sperm flagella, Absent sperm flagella, Male infertility... OMIM:620353
Spermatogenic Failure 49
Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... OMIM:619144
Spermatogenic Failure 45
Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... OMIM:619094
Spermatogenic Failure, X-Linked, 5
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Absent s... OMIM:301099
Amegakaryocytic Thrombocytopenia, Congenital, 1
Pancytopenia, Thrombocytopenia, Amegakaryocytic thrombocytopenia OMIM:604498
Spermatogenic Failure 62
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest OMIM:619673
Spermatogenic Failure 61
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest OMIM:619672
Spermatogenic Failure 88
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest OMIM:620547
Spermatogenic Failure, X-Linked, 3
Reduced sperm motility, Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagell... OMIM:301059
Spermatogenic Failure 73
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:619878
Spermatogenic Failure 59
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:619645
Spermatogenic Failure 60
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:619646
Spermatogenic Failure 74
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:619937
Spermatogenic Failure 84
Reduced sperm motility, Irregularly shaped sperm tail, Reduced progressive sperm motility, Short ... OMIM:620409
Spermatogenic Failure 83
Altered location of the longitudinal column in the fibrous sheath, Reduced progressive sperm moti... OMIM:620354
Spermatogenic Failure 40
Short sperm flagella, Immotile sperm, Absent sperm flagella, Oligozoospermia, Male infertility, C... OMIM:618664
Spermatogenic Failure 65
Reduced sperm motility, Irregularly shaped sperm tail, Reduced progressive sperm motility, Abnorm... OMIM:619712
Spermatogenic Failure 80
Reduced progressive sperm motility, Short sperm flagella, Absent sperm flagella, Oligozoospermia,... OMIM:620222
Spermatogenic Failure 76
Reduced sperm motility, Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagell... OMIM:620084
Spermatogenic Failure 56
Reduced sperm motility, Irregularly shaped sperm tail, Reduced progressive sperm motility, Short ... OMIM:619515
Spermatogenic Failure 36
Abnormal sperm morphology, Male infertility OMIM:618420
Spermatogenic Failure 78
Microcephalic sperm head, Tapered sperm head, Male infertility OMIM:620170
Spermatogenic Failure 47
Short sperm flagella, Immotile sperm, Absent sperm flagella, Oligozoospermia, Male infertility OMIM:619102
Spermatogenic Failure 1
Cryptozoospermia, Oligozoospermia, Male infertility OMIM:258150
Isochromosomy Yq
Varicocele, Male infertility, Decreased testicular size, Azoospermia, Ambiguous genitalia, Primar... ORPHA:98798
Spermatogenic Failure 58
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Immotile... OMIM:619585
Spermatogenic Failure 79
Male infertility, Reduced sperm motility, Oligozoospermia, Coiled sperm flagella OMIM:620196
Spermatogenic Failure 54
Abnormal sperm axoneme morphology, Cryptozoospermia, Tapered sperm head, Short sperm flagella, Ol... OMIM:619379
Spermatogenic Failure 11
Male infertility, Abnormal sperm morphology, Oligozoospermia, Reduced sperm motility OMIM:615081
Spermatogenic Failure 10
Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia, Male infertility OMIM:614822
Spermatogenic Failure 39
Reduced sperm motility, Tapered sperm head, Short sperm flagella, Absent sperm flagella, Oligozoo... OMIM:618643
Spermatogenic Failure 48
Spermatogenesis maturation arrest, Azoospermia, Oligozoospermia, Male infertility OMIM:619108
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Increased circulating antibody level, Thr... OMIM:615285
Spermatogenic Failure 22
Cryptozoospermia, Non-obstructive azoospermia, Male infertility OMIM:617706
Spermatogenic Failure 42
Microcephalic sperm head, Tapered sperm head, Short sperm flagella, Absent sperm flagella, Reduce... OMIM:618745
Spermatogenic Failure 41
Tapered sperm head, Short sperm flagella, Immotile sperm, Oligozoospermia, Male infertility OMIM:618670
Spermatogenic Failure 7
Immotile sperm, Reduced sperm motility, Oligozoospermia, Male infertility OMIM:612997
Male Infertility Due To Acephalic Spermatozoa
Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Oligozoospermia, Reduced sperm motili... ORPHA:529970
Spermatogenic Failure 5
Multiflagellar spermatozoa, Macrozoospermia, Male infertility OMIM:243060
Immunodeficiency, partial combined, with absence of hla determinantsand beta-2-microglobulin from lymphocytes
Decreased circulating IgG level, T lymphocytopenia OMIM:242870
Spermatogenic Failure 17
Male infertility OMIM:617214
Spermatogenic Failure 29
Non-obstructive azoospermia, Immotile sperm, Male infertility OMIM:618091
Immunodeficiency, Common Variable, 5
Antinuclear antibody positivity, Abnormal T cell count, Chronic decreased circulating total IgG, ... OMIM:613495
Spermatogenic Failure 87
Ruffled acrosome, Male infertility OMIM:620500
Spermatogenic Failure 31
Acephalic spermatozoa, Male infertility OMIM:618112
Spermatogenic Failure 53
Tapered sperm head, Male infertility OMIM:619258
Spermatogenic Failure 26
Acephalic spermatozoa, Male infertility OMIM:617961
Spermatogenic Failure, X-Linked, 2
Spermatogenesis maturation arrest, Azoospermia, Testicular atrophy, Male infertility OMIM:309120
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Cutaneous anergy, Pancytopenia, Hypersplenism, Splenomegaly, Decreased helper T cell proportion OMIM:183350
Spermatogenic Failure 16
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:617187
Spermatogenic Failure 21
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:617644
Spermatogenic Failure 70
Azoospermia, Reduced sperm motility, Oligozoospermia, Male infertility OMIM:619828
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Abnormal sperm morphology, Immotile sperm, Male infertility OMIM:608653
Persistent Mullerian Duct Syndrome, Types I And Ii
Decreased cirrculating antimullerian hormone circulation, Male infertility, Bilateral cryptorchidism OMIM:261550
Spermatogenic Failure 52
Azoospermia, Male infertility OMIM:619202
Spermatogenic Failure, Y-Linked, 2
Azoospermia, Male infertility OMIM:415000
Spermatogenic Failure 4
Azoospermia, Male infertility OMIM:270960
Spermatogenic Failure 23
Azoospermia, Male infertility OMIM:617707
Spermatogenic Failure 86
Acephalic spermatozoa, Acrosomal hypoplasia, Abnormal sperm head morphology, Ruffled acrosome, Ma... OMIM:620499
Reticular Dysgenesis
Impaired T cell function, Lack of T cell function, Lymphopenia, Congenital agranulocytosis, Leuko... OMIM:267500
Spermatogenic Failure 64
Male infertility, Reduced progressive sperm motility, Abnormal sperm head morphology, Oligozoospe... OMIM:619696
Platelet Disorder, Undefined
Prolonged bleeding time, Thrombocytopenia, Impaired platelet aggregation OMIM:173420
Spermatogenic Failure, X-Linked, 6
Absent sperm axoneme central pair complex, Abnormal male external genitalia morphology, Microceph... OMIM:301101
Immunoglobulin A Deficiency 2
Abnormal lymphocyte morphology, Decreased circulating IgA level, Autoimmunity OMIM:609529
Glanzmann Thrombasthenia 1
Decreased platelet glycoprotein IIb-IIIa, Impaired clot retraction, Impaired ADP-induced platelet... OMIM:273800
Deafness-Infertility Syndrome
Abnormal sperm head morphology, Reduced sperm motility, Abnormal spermatogenesis, Male infertilit... OMIM:611102
Bleeding Disorder, Platelet-Type, 13, Susceptibility To
Impaired arachidonic acid-induced platelet aggregation, Abnormal platelet count, Impaired thrombo... OMIM:614009
Deafness-Infertility Syndrome
Azoospermia, Male infertility ORPHA:94064
Spermatogenic Failure 44
Abnormal circulating testosterone concentration, Acephalic spermatozoa, Decreased testicular size... OMIM:619044
Combined Cellular And Humoral Immune Defects With Granulomas
Decreased circulating IgG level, T lymphocytopenia, B lymphocytopenia OMIM:233650
Spermatogenic Failure 3
Male infertility, Reduced sperm motility OMIM:606766
Spermatogenic Failure, Y-Linked, 1
Male infertility, Reduced sperm motility OMIM:400042
Spermatogenic Failure 55
Male infertility, Reduced sperm motility OMIM:619380
Bleeding Disorder, Platelet-Type, 11
Impaired ristocetin-induced platelet aggregation, Abnormal platelet count, Impaired collagen-indu... OMIM:614201
Autoimmune Lymphoproliferative Syndrome
Antineutrophil antibody positivity, Rheumatoid factor positive, Platelet antibody positive, Reduc... OMIM:601859
Beemer Lethal Malformation Syndrome
Thrombocytopenia OMIM:209970
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Abnormality of T cell physiology OMIM:308220
Spermatogenic Failure 81
Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia, Male infertility OMIM:620277
Immunodeficiency 18
Reduced natural killer cell count, Lymphopenia, Abnormal circulating IgG level, Abnormal B cell c... OMIM:615615
Immunodeficiency 11A
Decreased proportion of CD4+CD25+ regulatory T cells, Agammaglobulinemia, Reduced antigen-specifi... OMIM:615206
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia OMIM:252270
Spastic Paraplegia And Evans Syndrome
Autoimmune thrombocytopenia, Coombs-positive hemolytic anemia OMIM:601608
Dk Phocomelia Syndrome
Thrombocytopenia OMIM:223340
Ataxia-Pancytopenia Syndrome
Acute myelomonocytic leukemia, Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Hypopl... ORPHA:2585
Moyamoya Disease With Early-Onset Achalasia
Abnormal platelet aggregation, Thrombocytopenia ORPHA:401945
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Amegakaryocytic thrombocytopenia ORPHA:71289
Spermatogenic Failure 12
Infertility, Azoospermia, Abnormal male germ cell morphology OMIM:615413
Bleeding Disorder, Platelet-Type, 18
Impaired ADP-induced platelet aggregation, Prolonged bleeding time, Impaired epinephrine-induced ... OMIM:615888
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
Eosinophilia, Familial
Anemia, Eosinophilia, Leukocytosis, Thrombocytopenia OMIM:131400
Immunodeficiency 52
Increased proportion of gamma-delta T cells, Lymphopenia, Decreased circulating IgA level, Abnorm... OMIM:617514
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Thrombocytopenia OMIM:166990
Anemia, Sideroblastic, 5
Reduced hematocrit, Hypochromic microcytic anemia, Thrombocytopenia, Anemia, Neutropenia OMIM:619523
Spinocerebellar Ataxia Type 32
Testicular atrophy, Azoospermia, Male infertility ORPHA:276183
Candidiasis, Familial, 1
Cutaneous anergy OMIM:114580
Hypogonadism, Male
Micropenis, Male hypogonadism, Hypospadias, Testicular atrophy OMIM:241100
Bleeding Disorder, Platelet-Type, 25
Impaired ADP-induced platelet aggregation, Thrombocytopenia, Macrothrombocytopenia, Impaired coll... OMIM:620486
Erythroleukemia, Familial, Susceptibility To
Erythroid hyperplasia, Splenomegaly, Anemia, Acute myeloid leukemia, Thrombocytopenia, Leukemia OMIM:133180
Spermatogenic Failure 38
Abnormal axonemal organization of respiratory motile cilia, Reduced sperm motility, Tapered sperm... OMIM:618433
Cernunnos-Xlf Deficiency
Lymphopenia, Autoimmunity, T lymphocytopenia, Thrombocytopenia, B lymphocytopenia, Anemia, Decrea... ORPHA:169079
Bleeding Disorder, Platelet-Type, 19
Anemia, Macrothrombocytopenia, Thrombocytopenia OMIM:616176
Spinocerebellar Ataxia 32
Testicular atrophy, Infertility, Azoospermia OMIM:613909
Bone Marrow Failure Syndrome 2
Anemia, Bone marrow hypocellularity, Leukopenia, Thrombocytopenia OMIM:615715
Wiskott-Aldrich Syndrome 2
Reduced natural killer cell activity, Decreased proportion of CD8-positive T cells, Defective T c... OMIM:614493
Spermatogenic Failure, X-Linked, 7
Excess residual spermatozoal cytoplasm, Multiflagellar spermatozoa, Globozoospermia, Reduced sper... OMIM:301106
Spermatogenic Failure 75
Non-obstructive azoospermia, Elevated circulating follicle stimulating hormone level, Male infert... OMIM:619949
Immunodeficiency 105
Decreased circulating IgG level, Reduced natural killer cell count, Lymphopenia, Decreased circul... OMIM:619924
Spermatogenic Failure 85
Acephalic spermatozoa, Reduced progressive sperm motility, Globozoospermia, Male infertility, Coi... OMIM:620490
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Abnormal reticulocyte morphology, Bone marrow hypocellularity, Impaired platelet aggregation, Mac... OMIM:300835
Hermansky-Pudlak Syndrome 9
Leukopenia, Abnormal platelet aggregation, Thrombocytopenia OMIM:614171
Roch-Leri Mesosomatous Lipomatosis
Thrombocytopenia ORPHA:529
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Decreased specific pneumococcal antibody level, Autoimmunity, Impaired lymphocyte transformation ... OMIM:617006
Ring Chromosome Y Syndrome
Male hypogonadism, Female infertility, Abnormality of the male genitalia, Bifid scrotum, Gonadal ... ORPHA:261529
Spermatogenic Failure 77
Abnormal circulating testosterone concentration, Azoospermia, Multiflagellar spermatozoa, Cryptor... OMIM:620103
Azoospermia, Obstructive, With Nephrolithiasis
Obstructive azoospermia, Male infertility, Spermatocele OMIM:301060
Bleeding Disorder, Platelet-Type, 21
Increased mean platelet volume, Impaired ADP-induced platelet aggregation, Thrombocytopenia, Impa... OMIM:617443
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Lack of T cell function, Increased circulating IgE level, Lymphopenia, Autoimmunity, Anti-thyroid... ORPHA:277
Thrombocythemia 2
Thrombocytosis OMIM:601977
Thrombocytopenia With Beta-Thalassemia, X-Linked
Increased RBC distribution width, Reduced platelet alpha granules, Reticulocytosis, Splenomegaly,... OMIM:314050
Immunodeficiency 25
Increased circulating IgE level, Complete or near-complete absence of specific antibody response ... OMIM:610163
Neutropenia, Severe Congenital, 10, Autosomal Recessive
Anemia, Thrombocytopenia, Neutropenia, Monocytosis OMIM:620534
Immunodeficiency 64 With Lymphoproliferation
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased circulating IgG level... OMIM:618534
Caspase 8 Deficiency
Decreased circulating IgG level, Decreased circulating IgA level, Decreased CD4:CD8 ratio, Spleno... OMIM:607271
Ciliary Dyskinesia, Primary, 50
Reduced progressive sperm motility, Short sperm flagella, Absent inner dynein arms, Reduced sperm... OMIM:620356
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Bone marrow hypocellularity, Increased mean corpuscular volume, Pancytopenia, Acute myeloid leuke... OMIM:619041
Spermatogenic Failure 2
Abnormal circulating testosterone concentration, Non-obstructive azoospermia, Azoospermia, Abnorm... OMIM:108420
Spermatogenic Failure 6
Decreased acrosin in sperm head, Globozoospermia, Male infertility OMIM:102530
Isolated Follicle Stimulating Hormone Deficiency
Decreased serum estradiol, Male hypogonadism, Decreased serum testosterone concentration, Decreas... ORPHA:52901
Spermatogenic Failure 15
Abnormal circulating testosterone concentration, Non-obstructive azoospermia, Abnormal circulatin... OMIM:616950
46,Xx Testicular Difference Of Sex Development
Decreased testicular size, Male hypogonadism, Ambiguous genitalia, Polycystic ovaries ORPHA:393
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Plasmacytosis, Lymphopenia, Autoimmune hemolytic anemia, Increased circulating antibody level OMIM:247800
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome
Thrombocytopenia, Iron deficiency anemia, Neutropenia, Increased mean platelet volume ORPHA:494444
Preeclampsia/Eclampsia 1
Thrombocytopenia OMIM:189800
Congenital Amegakaryocytic Thrombocytopenia
Anemia, Abnormal hemoglobin, Thrombocytopenia ORPHA:3319
Giant platelet syndrome with thrombocytopenia
Giant platelets, Thrombocytopenia OMIM:137560
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Decreased specific pneumococcal antibody level, Decreased circulating IgG2 level, Splenomegaly, T... OMIM:615513
Immunoglobulin A Deficiency 1
Decreased circulating IgA level, Autoimmunity OMIM:137100
Immunodeficiency 112
Decreased circulating IgG level, Reduced natural killer cell count, Decreased circulating IgA lev... OMIM:620449
Spermatogenic Failure 66
Globozoospermia, Male infertility OMIM:619799
Spermatogenic Failure 9
Globozoospermia, Male infertility OMIM:613958
Spermatogenic Failure 67
Globozoospermia, Male infertility OMIM:619803
Spermatogenic Failure 68
Globozoospermia, Male infertility OMIM:619805
Spermatogenic Failure 69
Globozoospermia, Male infertility OMIM:619826
Autoimmune Disease
Autoimmunity, Autoimmune antibody positivity OMIM:109100
Spermatogenic Failure 28
Elevated circulating luteinizing hormone level, Decreased serum testosterone concentration, Non-o... OMIM:618086
Tn Polyagglutination Syndrome
Abnormal erythrocyte morphology, Autoimmunity OMIM:300622
Acute Myelomonocytic Leukemia
Anemia, Eosinophilia, Leukocytosis, Thrombocytopenia ORPHA:517
Autoimmune Lymphoproliferative Syndrome, Type Iia
Antiphospholipid antibody positivity, Increased circulating IgA level, Autoimmune thrombocytopeni... OMIM:603909
Familial Peripheral Male-Limited Precocious Puberty
Precocious puberty, Long penis, Oligozoospermia, Macroorchidism, Male infertility ORPHA:3000
Pemphigus Vulgaris, Familial
Autoimmunity, Autoimmune antibody positivity OMIM:169610
Familial Hyperprolactinemia
Hemorrhagic ovarian cyst, Infertility, Amenorrhea, Oligomenorrhea, Female hypogonadism, Menorrhagia ORPHA:397685
Refractory Anemia
Normocytic anemia, Bone marrow hypocellularity, Anemia of inadequate production, Macrocytic anemi... ORPHA:98826
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased specific anti-polysaccharide antibody level, Decreased CD4:CD8 ratio, Decreased proport... OMIM:300853
Bernard-Soulier Syndrome
Giant platelets, Thrombocytopenia, Impaired ristocetin-induced platelet aggregation, Macrothrombo... OMIM:231200
Amegakaryocytic Thrombocytopenia, Congenital, 2
Bone marrow hypocellularity, Aplastic anemia, Pancytopenia, Thrombocytopenia, Neutropenia, Anemia OMIM:620481
Transcobalamin Deficiency
Decreased circulating IgG level, Lymphopenia, Pancytopenia, Decreased circulating IgA level, Thro... ORPHA:859
Combined Immunodeficiency, X-Linked
Decreased circulating IgG level, Abnormal T cell count, Decreased proportion of CD8-positive T ce... OMIM:312863
Immunodeficiency 81
Abnormally low T cell receptor excision circle level, Autoimmune hemolytic anemia, Abscess, Decre... OMIM:619374
Thrombocytopenia 2
Abnormal platelet shape, Abnormal platelet volume, Leukocytosis, Thrombocytopenia OMIM:188000
Testicular Regression Syndrome
Abnormal morphology of female internal genitalia, Decreased testicular size, Decreased fertility,... ORPHA:983
Bleeding Disorder, Platelet-Type, 20
Thrombocytopenia OMIM:616913
Von Willebrand Disease, Type 2
Thrombocytopenia OMIM:613554
Ras-Associated Autoimmune Leukoproliferative Disorder
Pancytopenia, Autoimmunity, Splenomegaly, Increased circulating antibody level, Lymphocytosis, Ne... OMIM:614470
Quebec Platelet Disorder
Thrombocytopenia, Impaired epinephrine-induced platelet aggregation OMIM:601709
Immunodeficiency, Common Variable, 2
Decreased circulating IgG level, Abnormal T cell count, Impaired T cell function, Decreased circu... OMIM:240500
Immunodeficiency With Hyper-Igm, Type 3
Decreased circulating IgG level, Impaired memory B cell generation, Decreased circulating IgA lev... OMIM:606843
Gray Platelet Syndrome
Abnormality of thrombocytes, Splenomegaly, Thrombocytopenia ORPHA:721
Kennedy Disease
Testicular atrophy, Type II diabetes mellitus, Decreased fertility, Erectile dysfunction ORPHA:481
Immunodeficiency, Common Variable, 4
Decreased circulating total IgM, Decreased circulating IgG level, Abnormal T cell count, Complete... OMIM:613494
Immunodeficiency 89 And Autoimmunity
Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 27 concentrati... OMIM:619632
Severe Combined Immunodeficiency, X-Linked
Decreased circulating IgG level, Decreased circulating IgA level, Agammaglobulinemia, Hypoplasia ... OMIM:300400
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Increased circulating IgE level, Decreased proportion of CD8-positive T cells, Reduced delayed hy... OMIM:617241
Fetal Parvovirus Syndrome
Anemia, Thrombocytopenia ORPHA:295
Thrombocytopenia, Anemia, And Myelofibrosis
Anemia, Splenomegaly, Thrombocytopenia, Anisopoikilocytosis OMIM:617441
Fanconi Anemia, Complementation Group G
Leukemia, Anemia, Neutropenia, Thrombocytopenia OMIM:614082
Gray Platelet Syndrome
Abnormal number of alpha granules, Impaired thrombin-induced platelet aggregation, Splenomegaly, ... OMIM:139090
Asplenia, Isolated Congenital
Howell-Jolly bodies, Asplenia, Thrombocytosis OMIM:271400
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Increased circulating IgA level, Thrombocytopenia OMIM:314000
Immunodeficiency, Common Variable, 1
Decreased circulating IgG level, Abnormal T cell count, Impaired T cell function, Decreased circu... OMIM:607594
Autoimmune Disease, Multisystem, Infantile-Onset, 3
Decreased specific pneumococcal antibody level, Partial absence of specific antibody response to ... OMIM:620430
Leukocyte Adhesion Deficiency, Type Iii
Abnormality of thrombocytes, Extramedullary hematopoiesis, Hepatosplenomegaly, Leukocytosis, Sple... OMIM:612840
Primary Myelofibrosis
Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly, Throm... ORPHA:824
Hemangioma-Thrombocytopenia Syndrome
Thrombocytopenia, Microangiopathic hemolytic anemia OMIM:141000
Platelet Disorder, Familial, With Associated Myeloid Malignancy
Acute monocytic leukemia, Impaired arachidonic acid-induced platelet aggregation, Abnormal dense ... OMIM:601399
Alpha-Thalassemia-Myelodysplastic Syndrome
Acute leukemia, HbH hemoglobin, Microcytic anemia, Splenomegaly, Neutropenia, Thrombocytopenia ORPHA:231401
Thrombocytopenia 5
Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Neutropenia, Thrombocytopenia,... OMIM:616216
Congenital Bilateral Absence Of Vas Deferens
Obstructive azoospermia, Absent vas deferens, Oligozoospermia, Male infertility ORPHA:48
Ciliary Dyskinesia, Primary, 51
Reduced sperm motility, Irregularly shaped sperm tail, Reduced progressive sperm motility, Short ... OMIM:620438
Bilateral Striopallidodentate Calcinosis
Thrombocytopenia ORPHA:1980
Sea-Blue Histiocyte Disease
Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis OMIM:269600
Insulin Autoimmune Syndrome
Autoimmunity, Systemic lupus erythematosus, Autoimmune antibody positivity, Increased circulating... ORPHA:411593
Bleeding Disorder, Platelet-Type, 17
Increased RBC distribution width, Absence of alpha granules, Thrombocytopenia, Macrothrombocytope... OMIM:187900
Atypical Hemolytic Uremic Syndrome
Thrombocytopenia, Microangiopathic hemolytic anemia ORPHA:2134
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Stomatocytosis, Impaired ADP-induced platelet aggregation, Splenomegaly, Impaired collagen-relate... OMIM:153670
Griscelli Syndrome, Type 2
Reduced delayed hypersensitivity, Hepatosplenomegaly, Hemophagocytosis OMIM:607624
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections
Decreased circulating IgG level, Increased circulating interleukin 6 concentration, Cutaneous abs... OMIM:618944
Spermatogenic Failure 14
Abnormal circulating testosterone concentration, Azoospermia, Abnormal circulating luteinizing ho... OMIM:615842
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Increased mean corpuscular volume, Extramedullary hematopoiesis, Sideroblastic anemia, Erythroid ... OMIM:617021
Slc35A1-Cdg
Giant platelets, Abnormal platelet granules, Thrombocytopenia, Neutropenia, Prolonged bleeding time ORPHA:238459
Alpha-Thalassemia
Extramedullary hematopoiesis, Microcytic anemia, Hemoglobin Barts, Hepatosplenomegaly, Hypersplen... ORPHA:846
Thrombocytopenia, Paris-Trousseau Type
Prolonged bleeding time, Thrombocytopenia OMIM:188025
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Bone marrow hypocellularity, Megaloblastic erythroid hyperplasia, Hypochromic ... ORPHA:75564
Fanconi Anemia, Complementation Group T
Bone marrow hypocellularity, Pancytopenia, Acute myeloid leukemia, Thrombocytopenia, Anemia OMIM:616435
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Hypochromic anemia, Anemia of inadequate production, Anisocytosis, Poikilocytosis, Macrothrombocy... ORPHA:67044
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Decreased proportion of CD4+CD25+ regulatory T cells, Lymphopenia, Absent specific antibody respo... OMIM:619846
Immunodeficiency, Common Variable, 3
Abnormal T cell count, Chronic decreased circulating total IgG, Decreased circulating IgA level, ... OMIM:613493
Chronic Myeloid Leukemia
Abnormal granulocyte morphology, Leukocytosis, Splenomegaly, Abnormal basophil morphology, Thromb... ORPHA:521
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked
Azoospermia, Absent vas deferens, Male infertility OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of
Azoospermia, Absent vas deferens, Male infertility OMIM:277180
Immunodeficiency 102
Decreased circulating IgG level, Reduced natural killer cell count, Increased proportion of CD8-p... OMIM:301082
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Decreased lymphocyte proliferation in response to mitogen, Increased circulating IgE level, Lymph... ORPHA:169154
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
T lymphocytopenia ORPHA:169095
Polycythemia Vera
Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Increased circul... OMIM:263300
Von Willebrand Disease, Type 3
Prolonged bleeding time, Thrombocytopenia, Impaired platelet aggregation OMIM:277480
Myelofibrosis
Splenomegaly, Myeloproliferative disorder, Hemophagocytosis, Extramedullary hematopoiesis OMIM:254450
Ataxia-Pancytopenia Syndrome
Acute myelomonocytic leukemia, Pancytopenia, Thrombocytopenia, Neutropenia, Anemia, Hypoplastic a... OMIM:159550
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Systemic lupus erythematosus, Lymphopenia, Autoimmunity, Splenomegaly, Autoimmune hemolytic anemi... ORPHA:444463
Bleeding Disorder, Platelet-Type, 8
Impaired ADP-induced platelet aggregation OMIM:609821
Malaria
Anemia, Thrombocytopenia ORPHA:673
Immunodeficiency 46
Anemia, Decreased circulating antibody level, Neutropenia, Intermittent thrombocytopenia OMIM:616740
Osteopetrosis, Autosomal Recessive 2
Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Thrombocytopenia, Anemia OMIM:259710
Spermatogenic Failure 13
Abnormal circulating testosterone concentration, Azoospermia, Abnormal circulating luteinizing ho... OMIM:615841
Forsythe-Wakeling Syndrome
Thrombocytopenia OMIM:613606
Congenital Disorder Of Glycosylation, Type Iif
Macrothrombocytopenia, Thrombocytopenia, Decreased platelet glycoprotein Ib, Neutropenia OMIM:603585
Immunodeficiency 57 With Autoinflammation
Reduced natural killer cell count, Partial absence of specific antibody response to tetanus vacci... OMIM:618108
Bone Marrow Failure Syndrome 4
Bone marrow hypocellularity, Leukopenia, Thrombocytopenia, Anemia, Decreased circulating antibody... OMIM:618116
Spermatogenic Failure, X-Linked, 4
Elevated circulating luteinizing hormone level, Decreased serum testosterone concentration, Azoos... OMIM:301077
Chilblain Lupus
Systemic lupus erythematosus, Chronic myelomonocytic leukemia, Increased circulating antibody lev... ORPHA:90280
Pontocerebellar Hypoplasia, Type 15
Anemia, Chronic neutropenia, Thrombocytopenia OMIM:619302
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Testicular atrophy, Decreased fertility OMIM:313200
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Abnor... ORPHA:331206
Fanconi Anemia, Complementation Group V
Anemia, Bone marrow hypocellularity, Thrombocytopenia, Neutropenia OMIM:617243
46,Xy Complete Gonadal Dysgenesis
Hypogonadotropic hypogonadism, Male pseudohermaphroditism, Testicular dysgenesis, Polycystic ovaries ORPHA:242
Immunodeficiency 85 And Autoimmunity
Decreased circulating IgG level, Decreased proportion of memory B cells, Reduced natural killer c... OMIM:619510
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Acute monocytic leukemia, Congenital agranulocytosis, Thrombocytosis, Increased circulating antib... OMIM:202700
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Hepatosplenomegaly, Congenital thrombocytopenia, Neutropenia, Thrombocytopenia, Anemia OMIM:616738
Immunodeficiency 115 With Autoinflammation
Decreased circulating IgG level, Splenomegaly, Partial absence of specific antibody response to u... OMIM:620632
Von Willebrand Disease
Microcytic anemia, Abnormal platelet function, Abnormality of thrombocytes, Thrombocytopenia ORPHA:903
Partial Androgen Insensitivity Syndrome
Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Increased serum estradiol, ... ORPHA:90797
Niemann-Pick Disease, Type B
Sea-blue histiocytosis, Splenomegaly, Thrombocytopenia, Anemia, Bone-marrow foam cells OMIM:607616
Aicardi-Goutieres Syndrome 3
Hepatosplenomegaly, Thrombocytopenia OMIM:610329
Immunodeficiency By Defective Expression Of Mhc Class Ii
Decreased lymphocyte proliferation in response to mitogen, Abnormal CD4:CD8 ratio, Lack of T cell... ORPHA:572
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hemophagocytosis, Hepatosplenomegaly, Splenomegaly, Abnormal natural killer cell physiology, Thro... OMIM:613101
Immunodeficiency 36 With Lymphoproliferation
Decreased circulating IgG level, Lymphopenia, Decreased circulating IgA level, Autoimmunity, Sple... OMIM:616005
Nephrotic Syndrome, Type 7
Hemolytic anemia, Thrombocytopenia OMIM:615008
Ghosal Hematodiaphyseal Dysplasia
Bone marrow hypocellularity, Leukopenia, Refractory anemia, Thrombocytopenia OMIM:231095
Hermansky-Pudlak Syndrome 3
Abnormal number of dense granules, Impaired platelet aggregation OMIM:614072
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased circulating IgG level, Decreased proportion of CD8-positive T cells, Decreased circulat... OMIM:611926
Premature Ovarian Failure 5
Reduced antral follicle count, Streak ovary, Hypoplasia of the ovary, Primary amenorrhea, Prematu... OMIM:611548
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Cutaneous anergy, Absent natural killer cells, Decreased lymphocyte proliferation in response to ... OMIM:600802
Complete Androgen Insensitivity Syndrome
Elevated circulating luteinizing hormone level, Abnormal morphology of female internal genitalia,... ORPHA:99429
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hemophagocytosis, Splenomegaly, Thrombocytopenia, Neutropenia, Anemia OMIM:603552
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Bone marrow hypocellularity, Systemic lupus erythematosus, Leukopenia, Acute myeloid leukemia, Mo... OMIM:616871
Pontocerebellar Hypoplasia, Type 14
Chronic neutropenia, Thrombocytopenia OMIM:619301
46,Xy Partial Gonadal Dysgenesis
Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Abnormal vagina morphology,... ORPHA:251510
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia
Acanthocytosis, Congenital thrombocytopenia, Anemia of inadequate production, Poikilocytosis OMIM:300367
Folate Malabsorption, Hereditary
Leukopenia, Folate-responsive megaloblastic anemia, Thrombocytopenia, Neutropenia OMIM:229050
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Hypogonadism, Decreased testicular size, Abnormality of the ovary ORPHA:1875
Idiopathic Aplastic Anemia
Bone marrow hypocellularity, Pancytopenia, Reticulocytopenia, Thrombocytopenia, Neutropenia, Anemia ORPHA:88
Immunodeficiency 70
Decreased circulating total IgG, Decreased proportion of CD4-positive helper T cells, B lymphocyt... OMIM:618969
Phosphoglycerate Dehydrogenase Deficiency
Megaloblastic anemia, Thrombocytopenia OMIM:601815
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
B lymphocytopenia, T lymphocytopenia, Panhypogammaglobulinemia OMIM:601457
Wolfram Syndrome, Mitochondrial Form
Sideroblastic anemia, Neutropenia, Megaloblastic anemia, Thrombocytopenia OMIM:598500
46,Xx Ovotesticular Difference Of Sex Development
Small scrotum, Hypospadias, Bifid scrotum, Abnormal morphology of female internal genitalia, Abno... ORPHA:2138
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Autoimmunity, Splenomegaly, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropi... ORPHA:231154
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Decreased CD4:CD8 ratio, Autoimmunity, Splenomegaly, Autoimmune hemolytic anemia, Increased circu... OMIM:618495
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Anemia, Hypersplenism, Splenomegaly, Thrombocytopenia OMIM:610539
Sitosterolemia 1
Stomatocytosis, Giant platelets, Reticulocytosis, Splenomegaly, Episodic hemolytic anemia, Thromb... OMIM:210250
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Abnormally low T cell receptor excision circle level, Decreased circulating IgG level, Decreased ... OMIM:618986
Aicardi-Goutieres Syndrome 6
Hemolytic anemia, Splenomegaly, Thrombocytopenia OMIM:615010
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of memory ... OMIM:615559
Lymphoproliferative Syndrome 1
Decreased circulating IgG level, Hemophagocytosis, Pancytopenia, Leukopenia, Decreased proportion... OMIM:613011
Thrombocytopenia 3
Decreased mean platelet volume, Thrombocytopenia OMIM:273900
Unclassified Myelodysplastic Syndrome
Bone marrow hypocellularity, Acute myeloid leukemia, Leukocytosis, Autoimmunity ORPHA:98827
Non-Involuting Congenital Hemangioma
Thrombocytopenia ORPHA:141179
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Hypersegmentation of neutrophil nuclei, Lymphopenia, Pancytopenia, Autoimmunity, Macrocytic anemi... OMIM:617780
Lymphoproliferative Syndrome, X-Linked, 1
Decreased circulating IgG level, Abnormal T cell count, Aplastic anemia, Hemophagocytosis, Pancyt... OMIM:308240
Hereditary Spherocytosis
Spontaneous hemolytic crises, Increased mean corpuscular hemoglobin concentration, Extramedullary... ORPHA:822
Hermansky-Pudlak Syndrome 5
Absent platelet dense granules, Impaired ADP-induced platelet aggregation, Prolonged bleeding tim... OMIM:614074
Immunodeficiency 96
Decreased circulating IgG level, Increased mean corpuscular volume, Increased proportion of gamma... OMIM:619774
Systemic Lupus Erythematosus 17
Lymphopenia, Leukopenia, Autoimmune thrombocytopenia, Thrombocytopenia OMIM:301080
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Elevated circulating luteinizing hormone level, Absence of pubertal development, Decreased fertil... ORPHA:90793
Myh9-Related Disease
Prolonged bleeding time, Giant platelets, Congenital thrombocytopenia, Neutrophil inclusion bodie... ORPHA:182050
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Small scrotum, Decreased serum testosterone concentration, Decreased testicular size, Azoospermia... OMIM:308700
Thyrocerebrorenal Syndrome
Thrombocytopenia ORPHA:3327
Ciliary Dyskinesia, Primary, 45
Male infertility, Absent inner and outer dynein arms OMIM:618801
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
T lymphocytopenia, Decreased helper T cell proportion OMIM:601705
Bleeding Disorder, Platelet-Type, 12
Impaired platelet aggregation OMIM:605735
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Lymphopenia, Hemolytic anemia, Thrombocytopenia OMIM:616744
Bernard-Soulier Syndrome
Impaired ristocetin-induced platelet aggregation, Macrothrombocytopenia, Giant platelets, Decreas... ORPHA:274
Agammaglobulinemia 9, Autosomal Recessive
Agammaglobulinemia, Absent circulating B cells, Thrombocytopenia OMIM:619693
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Decreased circulating IgG level, Increased circulating IgE level, Decreased circulating IgA level... ORPHA:98813
Immunodeficiency 66
Defective T cell proliferation OMIM:618847
Amed Syndrome, Digenic
Bone marrow hypocellularity, Leukopenia, Acute myeloid leukemia, Thrombocytopenia, Anemia OMIM:619151
Beta-Thalassemia Intermedia
Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomegaly, Erythroid hyperpla... ORPHA:231222
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
Abnormally low T cell receptor excision circle level, T lymphocytopenia OMIM:618806
Osteopetrosis, Autosomal Recessive 8
Anemia, Splenomegaly, Thrombocytopenia OMIM:615085
T-Cell Immunodeficiency With Thymic Aplasia
Abnormally low T cell receptor excision circle level, Reduced delayed hypersensitivity, Lymphopen... OMIM:242700
Immunodeficiency 32B
Impaired oxidative burst, Abnormal circulating IgG level, Splenomegaly, Eosinophilia, Monocytopen... OMIM:226990
Aromatase Deficiency
Female pseudohermaphroditism, Hypergonadotropic hypogonadism, Ovarian cyst, Primary amenorrhea OMIM:613546
Spherocytosis, Type 5
Abnormal leukocyte count, Splenomegaly, Reticulocytosis, Abnormal platelet count, Spherocytosis, ... OMIM:612690
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Short sperm flagella, Male infertility, Coiled sperm flagella OMIM:620197
Subcorneal Pustular Dermatosis
Rheumatoid arthritis, Systemic lupus erythematosus, Autoimmunity, Increased circulating antibody ... ORPHA:48377
Rapidly Involuting Congenital Hemangioma
Thrombocytopenia ORPHA:141184
Kallmann Syndrome With Spastic Paraplegia
Hypothalamic gonadotropin-releasing hormone deficiency, Cryptorchidism, Hypogonadotropic hypogona... OMIM:308750
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Absen... ORPHA:35078
Congenital Bile Acid Synthesis Defect Type 2
Prolonged prothrombin time, Extramedullary hematopoiesis ORPHA:79303
Thyrocerebroretinal Syndrome
Thrombocytopenia OMIM:274240
Gonadoblastoma
Ovarian gonadoblastoma, Abnormality of the ovary, Gonadal calcification, Ambiguous genitalia, Inc... ORPHA:206484
Immunodeficiency, Common Variable, 12, With Autoimmunity
Decreased circulating antibody level, Autoimmune hemolytic anemia, Thrombocytopenia OMIM:616576
3-Methylglutaconic Aciduria Type 4
Thrombocytopenia ORPHA:67048
Autoimmune Lymphoproliferative Syndrome
Systemic lupus erythematosus, Increased circulating IgE level, Lymphopenia, Hypersplenism, Decrea... ORPHA:3261
Isovaleric Acidemia
Bone marrow hypocellularity, Pancytopenia, Leukopenia, Thrombocytopenia OMIM:243500
Storage Pool Platelet Disease
Decreased mean platelet volume, Acute leukemia, Prolonged bleeding time OMIM:185050
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Decreased circulating IgG level, Decreased circulating IgA level, Autoimmunity, Hashimoto thyroid... ORPHA:275
Transaldolase Deficiency
Anemia, Hepatosplenomegaly, Thrombocytopenia ORPHA:101028
Thrombotic Thrombocytopenic Purpura
Thrombocytopenia, Reticulocytosis, Microangiopathic hemolytic anemia ORPHA:54057
Diffuse Neonatal Hemangiomatosis
Anemia, Thrombocytopenia ORPHA:2123
Macrophage Activation Syndrome
Abnormal circulating interleukin concentration, Increased circulating interleukin 6 concentration... ORPHA:158061
Immunodeficiency With Hyper-Igm, Type 1
Decreased circulating IgG level, Impaired memory B cell generation, Abnormal circulating IgM leve... OMIM:308230
Immunodeficiency 22
Decreased circulating IgG level, Decreased circulating IgA level, Autoimmunity, Decreased proport... OMIM:615758
Osteopetrosis, Autosomal Recessive 4
Anemia, Splenomegaly, Thrombocytopenia, Reticulocytosis OMIM:611490
Immunodeficiency 19
Abnormal B cell morphology, T lymphocytopenia, Abnormal natural killer cell morphology OMIM:615617
Stuve-Wiedemann Syndrome 2
Thrombocytopenia OMIM:619751
Dominant Beta-Thalassemia
Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomega... ORPHA:231226
Aicardi-Goutieres Syndrome 4
Hepatosplenomegaly, Pancytopenia, Splenomegaly, Thrombocytopenia OMIM:610333
Leishmaniasis
Pancytopenia, Leukopenia, Splenomegaly, Abnormal macrophage morphology, Increased circulating ant... ORPHA:507
Beta-Thalassemia
Microcytic anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia, Anemia ORPHA:848
Osteopetrosis, Autosomal Recessive 5
Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly, Hypoc... OMIM:259720
Ciliary Dyskinesia, Primary, 34
Immotile sperm, Male infertility, Absent central microtubular pair morphology of respiratory moti... OMIM:617091
Immunodeficiency 114, Folate-Responsive
Decreased circulating IgG level, Increased circulating IgE level, Lymphopenia, Splenomegaly, Mega... OMIM:620603
Gaucher Disease, Type Iii
Pancytopenia, Splenomegaly, Thrombocytopenia OMIM:231000
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, Splenomegaly, Neutropenia, B lymphocytopenia, Intermittent thrombocytopenia OMIM:150550
Igg4-Related Aortitis
Increased circulating IgE level, Increased circulating IgG4 level, Hypereosinophilia, Autoimmunit... ORPHA:449400
Autoinflammation With Infantile Enterocolitis
Reduced natural killer cell count, Reduced natural killer cell activity, Pancytopenia, Splenomega... OMIM:616050
Deafness-Lymphedema-Leukemia Syndrome
Bone marrow hypocellularity, Acute leukemia, Leukocytosis, Splenomegaly, Thrombocytopenia, Abnorm... ORPHA:3226
Fowler Urethral Sphincter Dysfunction Syndrome
Abnormality of the ovary, Polycystic ovaries, Amenorrhea, Oligomenorrhea, Menorrhagia ORPHA:2795
Beta-Thalassemia Major
Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomega... ORPHA:231214
Pgm3-Cdg
Bone marrow hypocellularity, Reduced natural killer cell count, Abnormal CD4:CD8 ratio, Cutaneous... ORPHA:443811
Combined Immunodeficiency Due To Dock8 Deficiency
Increased circulating IgE level, T lymphocytopenia, B lymphocytopenia ORPHA:217390
Immunodeficiency 97 With Autoinflammation
Decreased proportion of CD4+CD25+ regulatory T cells, Reduced natural killer cell count, Decrease... OMIM:619802
Moyamoya Disease 6 With Or Without Achalasia
Thrombocytopenia OMIM:615750
Immunodeficiency 67
Abnormal T cell count, Increased circulating IgE level, Transient neutropenia, Abnormal B cell co... OMIM:607676
Tufted Angioma
Anemia, Thrombocytopenia ORPHA:1063
Systemic Lupus Erythematosus
Leukopenia, Hemolytic anemia, Thrombocytopenia OMIM:152700
Congenital Disorder Of Glycosylation, Type Iik
Thrombocytopenia OMIM:614727
Thrombocytopenia 10
Decreased mean platelet volume, Thrombocytopenia OMIM:620484
Hemochromatosis, Type 1
Azoospermia, Hypogonadotropic hypogonadism, Amenorrhea, Testicular atrophy, Impotence, Diabetes m... OMIM:235200
Osteopetrosis, Autosomal Recessive 3
Anemia, Hepatosplenomegaly, Extramedullary hematopoiesis OMIM:259730
Ciliary Dyskinesia, Primary, 36, X-Linked
Male infertility OMIM:300991
Babesiosis
Leukopenia, Hemolytic anemia, Splenomegaly, Thrombocytopenia ORPHA:108
Hermansky-Pudlak Syndrome 7
Prolonged bleeding time, Impaired platelet aggregation OMIM:614076
Congenital Toxoplasmosis
Anemia, Thrombocytopenia ORPHA:858
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Anemia, Thrombocytopenia, Neutropenia ORPHA:289916
Wiskott-Aldrich Syndrome
Abnormal eosinophil morphology, Acute leukemia, Microcytic anemia, Lymphopenia, Chronic leukemia,... ORPHA:906
Vitamin B12-Unresponsive Methylmalonic Acidemia
Anemia, Leukopenia, Thrombocytopenia, Macrocytic anemia ORPHA:27
Dyskeratosis Congenita, Autosomal Recessive 2
Bone marrow hypocellularity, Pancytopenia, Thrombocytopenia OMIM:613987
Thiamine-Responsive Megaloblastic Anemia Syndrome
Megaloblastic anemia, Thrombocytopenia ORPHA:49827
Noonan Syndrome 12
Lymphopenia, Thrombocytopenia OMIM:618624
Imerslund-Gräsbeck Syndrome
Anisopoikilocytosis, Hypersegmentation of neutrophil nuclei, Pancytopenia, Reticulocytosis, Macro... ORPHA:35858
Immunodeficiency 98 With Autoinflammation, X-Linked
Bone marrow hypocellularity, Decreased circulating IgG level, Hemophagocytosis, Agranulocytosis, ... OMIM:301078
Ovarian Fibrothecoma
Abnormality of the ovary, Gonadal calcification, Metrorrhagia, Abnormal endometrium morphology, O... ORPHA:314478
Immunodeficiency 17
Abnormal B cell morphology, Chronic decreased circulating IgG2, Decreased proportion of CD8-posit... OMIM:615607
Dehydrated Hereditary Stomatocytosis 2
Increased mean corpuscular volume, Increased mean corpuscular hemoglobin concentration, Thrombocy... OMIM:616689
47,Xyy Syndrome
Varicocele, Azoospermia, Cryptorchidism, Micropenis, Increased serum testosterone level, Oligozoo... ORPHA:8
Immunodeficiency 13
Lymphopenia, Decreased CD4:CD8 ratio, Decreased proportion of CD4-positive helper T cells, B lymp... OMIM:615518
Proteasome-Associated Autoinflammatory Syndrome 2
Decreased proportion of memory B cells, Abnormal circulating IgM level, Increased circulating IgA... OMIM:618048
Isolated Agammaglobulinemia
Anemia, Abnormal lymphocyte morphology, Abnormality of neutrophils, Thrombocytopenia ORPHA:229717
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
T lymphocytopenia DECIPHER:16
Thrombocytopenia 1
Decreased mean platelet volume, Increased circulating IgE level, Increased circulating IgA level,... OMIM:313900
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Anemia, Thrombocytopenia, Splenomegaly, Neutropenia ORPHA:79312
Autoerythrocyte Sensitization Syndrome
Abnormal erythrocyte morphology, Impaired platelet adhesion, Autoimmune thrombocytopenia, Thrombo... ORPHA:324636
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Reduced natural killer cell count, Decreased lymphocyte proliferation in response to anti-CD3, Hy... OMIM:619313
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Increased circulating IgE level, Decreased FOXP3-expressing T cell count, Eosinophilia, Coombs-po... OMIM:304790
Immunodeficiency 104
T lymphocytopenia, Splenomegaly OMIM:608971
Immunodeficiency 76
Lymphopenia, T lymphocytopenia, Splenomegaly, B lymphocytopenia OMIM:619164
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Decreased proportion of CD4+CD25+ regulatory T cells, Decreased specific anti-polysaccharide anti... OMIM:606367
Sea-Blue Histiocytosis
Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis ORPHA:158029
Gamma-Heavy Chain Disease
Abnormal lymphocyte morphology, Splenomegaly, Autoimmune hemolytic anemia, Thrombocytopenia, Anem... ORPHA:100026
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome
Bone marrow hypocellularity, Hepatosplenomegaly, Thrombocytopenia ORPHA:210136
Braddock-Carey Syndrome 2
Thrombocytopenia OMIM:619981
Aicardi-Goutieres Syndrome 5
Thrombocytopenia OMIM:612952
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Male infertility OMIM:618948
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Megaloblastic anemia, Pancytopenia, Increased mean corpuscular volume, Thrombocytopenia OMIM:613839
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Reduced natural killer cell count, Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Splenomega... ORPHA:158057
Classic Galactosemia
Cryptorchidism, Decreased fertility in females, Oligomenorrhea, Decreased serum insulin-like grow... ORPHA:79239
Atelis Syndrome 1
Anemia, Leukopenia, Thrombocytopenia OMIM:620184
Thiamine-Responsive Megaloblastic Anemia Syndrome
Sideroblastic anemia, Thrombocytopenia, Thiamine-responsive megaloblastic anemia OMIM:249270
Glanzmann Thrombasthenia
Impaired ristocetin-induced platelet aggregation, Prolonged bleeding time ORPHA:849
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Anemia, Thrombocytopenia, Microangiopathic hemolytic anemia OMIM:612924
Specific Granule Deficiency 2
Anemia, Absent neutrophil specific granules, Thrombocytopenia, Neutropenia OMIM:617475
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Anemia, Thrombocytopenia, Microangiopathic hemolytic anemia OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Anemia, Thrombocytopenia, Microangiopathic hemolytic anemia OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Anemia, Thrombocytopenia, Microangiopathic hemolytic anemia OMIM:612926
Congenital Syphilis
Anemia, Hepatosplenomegaly, Thrombocytopenia, Extramedullary hematopoiesis ORPHA:499009
Aregenerative Anemia
Bone marrow hypocellularity, Pancytopenia, Decreased proportion of CD4-positive helper T cells, A... ORPHA:101096
Chédiak-Higashi Syndrome
Abnormality of neutrophil physiology, Hemophagocytosis, Abnormal natural killer cell morphology, ... ORPHA:167
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets
Iron deficiency anemia, Impaired platelet aggregation OMIM:618372
Stt3B-Cdg
Thrombocytopenia ORPHA:370924
Hereditary Folate Malabsorption
Pancytopenia, Eosinophilia, Megaloblastic anemia, Thrombocytopenia, Decreased circulating antibod... ORPHA:90045
Retinitis Pigmentosa And Erythrocytic Microcytosis
Leukopenia, Elliptocytosis, Anisocytosis, Hypochromia, Poikilocytosis, Anemia, Thrombocytopenia, ... OMIM:616959
Tetragametic Chimerism
Clitoral hypertrophy, Bifid scrotum, Abnormality of the ovary, Abnormal scrotum morphology, Crypt... ORPHA:199310
Purine Nucleoside Phosphorylase Deficiency
Decreased lymphocyte proliferation in response to mitogen, Impaired T cell function, Lymphopenia,... OMIM:613179
Thymoma
Rheumatoid arthritis, Aplastic anemia, Imbalanced hemoglobin synthesis, Systemic lupus erythemato... ORPHA:99867
Ciliary Dyskinesia, Primary, 18
Absent outer dynein arms, Absent inner dynein arms, Immotile sperm, Male infertility OMIM:614874
Refractory Anemia With Excess Blasts
Abnormal mean corpuscular volume, Bone marrow hypocellularity, Leukocytosis, Anemia of inadequate... ORPHA:86839
Aromatase Deficiency
Female infertility, Male infertility, Ambiguous genitalia, female, Female pseudohermaphroditism, ... ORPHA:91
Relapsing Fever
Leukopenia, Leukocytosis, Thrombocytopenia, Neutrophilia, Anemia, Prolonged prothrombin time ORPHA:91547
Pelger-Huet Anomaly
Giant platelets, Hyposegmentation of neutrophil nuclei, Thrombocytopenia, Neutropenia, Abnormalit... OMIM:169400
Hermansky-Pudlak Syndrome 2
Reduced natural killer cell count, Enlarged platelet dense granules, Reduced natural killer cell ... OMIM:608233
Thrombocytopenia 6
Thrombocytopenia OMIM:616937
Congenital Disorder Of Glycosylation, Type Ix
Thrombocytopenia OMIM:615597
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Hepatosplenomegaly, Decreased circulating antibody level, Autoimmunity, Autoimmune hemolytic anem... OMIM:615952
Rhabdoid Tumor
Anemia, Thrombocytopenia ORPHA:69077
Hermansky-Pudlak Syndrome 11
Reduced platelet dense granules, Impaired collagen-induced platelet aggregation OMIM:619172
Ciliary Dyskinesia, Primary, 9
Absent outer dynein arms, Male infertility OMIM:612444
Myotonic Dystrophy 1
Testicular atrophy, Cholelithiasis, Hypogonadism OMIM:160900
Letterer-Siwe Disease
Anemia, Hepatosplenomegaly, Neutropenia, Thrombocytopenia OMIM:246400
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Anemia, Thrombocytopenia, Microangiopathic hemolytic anemia OMIM:612925
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7
Anemia, Lymphopenia, Thrombocytopenia OMIM:620365
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Testicular atrophy OMIM:601163
Aggressive Systemic Mastocytosis
Hepatosplenomegaly, Pancytopenia, Hypersplenism, Leukocytosis, Increased proportion of CD25+ mast... ORPHA:98850
Orotic Aciduria
Folate-unresponsive megaloblastic anemia, Impaired T cell function, Anisocytosis, Hypochromia, Po... OMIM:258900
Omenn Syndrome
Splenomegaly, Hypoplasia of the thymus, Eosinophilia, Anemia, Thrombocytopenia, B lymphocytopenia... OMIM:603554
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1
Aplastic anemia, Congenital thrombocytopenia, Amegakaryocytic thrombocytopenia OMIM:605432
Neonatal Lupus Erythematosus
Aplastic anemia, Pancytopenia, Splenomegaly, Neutropenia, Thrombocytopenia, Anemia, Hemolytic anemia ORPHA:398124
Immune Thrombocytopenia
Thrombocytopenia ORPHA:3002
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Thrombocytopenia, Increased mean platelet volume OMIM:300048
Wiskott-Aldrich Syndrome
Decreased mean platelet volume, Decreased specific anti-polysaccharide antibody level, Increased ... OMIM:301000
Von Willebrand Disease, Type 1
Prolonged bleeding time, Impaired platelet aggregation OMIM:193400
Congenital Rubella Syndrome
Anemia, Splenomegaly, Thrombocytopenia ORPHA:290
Portal Hypertension, Noncirrhotic, 2
Splenomegaly, Thrombocytopenia OMIM:619463
Tularemia
Anemia, Leukocytosis, Thrombocytopenia, Increased circulating antibody level ORPHA:3392
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Decreased proportion of memory B cells, Abnormal circulating interleukin concentration, Panhypoga... ORPHA:79124
Bone Marrow Failure Syndrome 5
Testicular atrophy, Hypogonadism OMIM:618165
Fetal Gaucher Disease
Abnormality of the spleen, Pancytopenia, Splenomegaly, Thrombocytopenia ORPHA:85212
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Reduced natural killer cell count, Decreased circulating IgA level, Increased circulating IgM lev... OMIM:242860
Ciliary Dyskinesia, Primary, 14
Abnormal axonemal organization of respiratory motile cilia, Immotile sperm, Absent inner dynein a... OMIM:613807
Sengers Syndrome
Thrombocytopenia OMIM:212350
46,Xx Sex Reversal 2
Small scrotum, Elevated circulating luteinizing hormone level, Bifid scrotum, Decreased serum tes... OMIM:278850
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency
Anemia, Bone marrow hypocellularity, Thrombocytopenia, Neutropenia OMIM:614520
Immunodeficiency 40
Thrombocytopenia, Eosinophilic granuloma, Reduced antigen-specific T cell proliferation, T lympho... OMIM:616433
Mhc Class Ii Deficiency 1
Agammaglobulinemia, Cutaneous anergy, Neutropenia, Panhypogammaglobulinemia OMIM:209920
Acquired Purpura Fulminans
Prolonged prothrombin time, Thrombocytopenia ORPHA:49566
Fgfr2-Related Bent Bone Dysplasia
Hepatosplenomegaly, Extramedullary hematopoiesis ORPHA:313855
Boutonneuse Fever
Increased circulating IgG level, Leukopenia, Increased circulating IgM level, Thrombocytopenia ORPHA:83313
Immunodeficiency, Common Variable, 8, With Autoimmunity
Decreased circulating IgG level, Pancytopenia, Decreased circulating IgA level, Splenomegaly, Aut... OMIM:614700
T-Cell Immunodeficiency With Thymic Aplasia
Decreased lymphocyte proliferation in response to mitogen, Autoimmunity, Decreased proportion of ... ORPHA:83471
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature
Lymphopenia, Leukopenia, Neutropenia, Schistocytosis, Anemia, Thrombocytopenia, Hemolytic anemia OMIM:301110
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Parathyroid agenesis, Congenital hypoparathyroidism, Male infertility ORPHA:2239
Neurodevelopmental Disorder With Hearing Loss, Seizures, And Brain Abnormalities
Thrombocytopenia OMIM:616577
Griscelli Syndrome
Bone marrow hypocellularity, Leukopenia, Splenomegaly, Thrombocytopenia, Abnormality of neutrophi... ORPHA:381
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Leukocytosis, Thrombocytopenia ORPHA:83601
Symptomatic Form Of Hfe-Related Hemochromatosis
Decreased serum testosterone concentration, Decreased libido, Hypogonadotropic hypogonadism, Amen... ORPHA:465508
Hepatoportal Sclerosis
Hypersplenism, Leukopenia, Splenomegaly, Thrombocytopenia, Prolonged prothrombin time, Anemia ORPHA:64743
Blue Rubber Bleb Nevus
Iron deficiency anemia, Thrombocytopenia OMIM:112200
Beemer-Ertbruggen Syndrome
Thrombocytopenia ORPHA:1237
Gaucher Disease, Type I
Pancytopenia, Hypersplenism, Splenomegaly, Thrombocytopenia, Anemia OMIM:230800
Fetal Cytomegalovirus Syndrome
Anemia, Splenomegaly, Thrombocytopenia ORPHA:294
Wolfram Syndrome 2
Decreased circulating antibody level, Impaired collagen-induced platelet aggregation OMIM:604928
Schimke Immuno-Osseous Dysplasia
Bone marrow hypocellularity, Abnormal proportion of naive CD4 T cells, Impaired T cell function, ... ORPHA:1830
45,X/46,Xy Mixed Gonadal Dysgenesis
Streak ovary, Abnormal scrotum morphology, Cryptorchidism, Chordee, Abnormal internal genitalia, ... ORPHA:1772
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Anemia, Pancytopenia, Leukopenia, Thrombocytopenia OMIM:613845
Propionic Acidemia
Anemia, Pancytopenia, Thrombocytopenia, Neutropenia OMIM:606054
Prolidase Deficiency
Anemia, Splenomegaly, Thrombocytopenia, Increased circulating antibody level OMIM:170100
Diffuse Alveolar Hemorrhage
Anemia, Leukocytosis, Thrombocytopenia ORPHA:90060
Obesity Due To Congenital Leptin Deficiency
Decreased T cell activation, Decreased proportion of CD4-positive helper T cells ORPHA:66628
Cog4-Cdg
Hepatosplenomegaly, Thrombocytopenia ORPHA:263501
Immunodeficiency 91 And Hyperinflammation
Neutrophilia, Hemophagocytosis, Hepatosplenomegaly, Thrombocytopenia, Monocytosis OMIM:619644
Drug-Induced Lupus Erythematosus
Anemia, Thrombocytopenia ORPHA:231111
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Thrombocytopenia, Normochromic anemia, Neutropenia OMIM:614857
Stormorken Syndrome
Howell-Jolly bodies, Thrombocytopenia, Anemia, Asplenia, Hypoplastic spleen OMIM:185070
Oligoarticular Juvenile Idiopathic Arthritis
Abnormal circulating interleukin concentration, Rheumatoid arthritis, Increased circulating inter... ORPHA:85410
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8
Increased mean corpuscular volume, Splenomegaly, Thrombocytopenia OMIM:620367
Kasabach-Merritt Phenomenon
Microangiopathic hemolytic anemia, Leukopenia, Reticulocytosis, Neutropenia, Thrombocytopenia, An... ORPHA:2330
X-Linked Agammaglobulinemia
Anemia, Thrombocytopenia, Agammaglobulinemia, Neutropenia ORPHA:47
Obesity Due To Leptin Receptor Gene Deficiency
Decreased T cell activation, Decreased proportion of CD4-positive helper T cells ORPHA:179494
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Chronic myelomonocytic leukemia, Leukocytosis, Splenomegaly, Chronic lymphatic... ORPHA:98849
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Hypochromic anemia, Increased circulating IgE level, Leukocytosis, Decreased T cell activation, P... OMIM:618213
Pseudo-Torch Syndrome 3
Anemia, Leukocytosis, Congenital thrombocytopenia OMIM:618886
Hoyeraal-Hreidarsson Syndrome
Anemia, Bone marrow hypocellularity, Thrombocytopenia, Abnormal leukocyte morphology ORPHA:3322
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hemophagocytosis, Reduced natural killer cell activity, Leukopenia, Hepatosplenomegaly, Pancytope... OMIM:603553
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome
Thrombocytopenia, Hypochromic microcytic anemia ORPHA:3240
Acute Promyelocytic Leukemia
Pancytopenia, Leukopenia, Leukocytosis, Neutropenia, Thrombocytopenia, Anemia ORPHA:520
Felty Syndrome
Bone marrow hypocellularity, Abnormal lymphocyte morphology, Splenomegaly, Thrombocytopenia, Neut... ORPHA:47612
Dyskeratosis Congenita, Autosomal Dominant 2
Bone marrow hypocellularity, Aplastic anemia, Pancytopenia, Leukopenia, Thrombocytopenia, Neutrop... OMIM:613989
Good Syndrome
Anemia, Decreased circulating antibody level, Thrombocytopenia, Abnormal leukocyte morphology ORPHA:169105
Tafro Syndrome
Hepatosplenomegaly, Leukocytosis, Splenomegaly, Thrombocytopenia, Anemia ORPHA:457077
Autoimmune Polyendocrinopathy Type 4
Non-caseating epithelioid cell granulomatosis, Aplasia/Hypoplasia of the spleen, Rheumatoid arthr... ORPHA:227990
Wolfram Syndrome 1
Sideroblastic anemia, Megaloblastic anemia, Thrombocytopenia OMIM:222300
Thrombotic Thrombocytopenic Purpura, Hereditary
Schistocytosis, Thrombocytopenia, Reticulocytosis, Microangiopathic hemolytic anemia OMIM:274150
Congenital Disorder Of Glycosylation, Type Ih
Anemia, Thrombocytopenia OMIM:608104
Transaldolase Deficiency
Hepatosplenomegaly, Pancytopenia, Splenomegaly, Thrombocytopenia, Anemia OMIM:606003
Congenital Disorder Of Glycosylation, Type Iil
Decreased specific anti-polysaccharide antibody level, Impaired T cell function, Pancytopenia, Sp... OMIM:614576
Congenital Enterovirus Infection
Leukopenia, Leukocytosis, Abnormal macrophage morphology, Neutropenia, Thrombocytopenia, Anemia ORPHA:292
Ciliary Dyskinesia, Primary, 19
Male infertility, Absent inner and outer dynein arms OMIM:614935
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hemophagocytosis, Leukopenia, Splenomegaly, Thrombocytopenia, Prolonged prothrombin time, Anemia OMIM:267700
Hermansky-Pudlak Syndrome 6
Impaired arachidonic acid-induced platelet aggregation, Impaired ADP-induced platelet aggregation... OMIM:614075
Agammaglobulinemia, X-Linked
Decreased circulating IgG level, Decreased circulating IgA level, Agammaglobulinemia, Complete or... OMIM:300755
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Male infertility OMIM:619607
Immunodeficiency 68
Abnormal natural killer cell count, T lymphocytopenia, Abscess, B lymphocytopenia OMIM:612260
Tarp Syndrome
Extramedullary hematopoiesis ORPHA:2886
Hereditary Orotic Aciduria
Anemia, Splenomegaly, Impaired T cell function ORPHA:30
Dengue Fever
Leukopenia, Thrombocytopenia ORPHA:99828
Thrombocytopenia 8, With Dysmorphic Features And Developmental Delay
Platelet anisocytosis, Thrombocytopenia, Increased mean platelet volume OMIM:620475
Holocarboxylase Synthetase Deficiency
Thrombocytopenia ORPHA:79242
Familial Hemophagocytic Lymphohistiocytosis
Hemophagocytosis, Reduced natural killer cell activity, Splenomegaly, Thrombocytopenia, Neutropen... ORPHA:540
Epidermodysplasia Verruciformis, Susceptibility To, 5
Lymphopenia, T lymphocytopenia OMIM:618309
Autoimmune Polyendocrinopathy Type 3
Non-caseating epithelioid cell granulomatosis, Aplasia/Hypoplasia of the spleen, Rheumatoid arthr... ORPHA:227982
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Schistocytosis, Thrombocytopenia, Reticulocytosis, Microangiopathic hemolytic anemia OMIM:235400
Aarskog-Scott Syndrome
Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Decreased serum testost... OMIM:305400
Cholesteryl Ester Storage Disease
Hepatosplenomegaly, Leukopenia, Hypersplenism, Splenomegaly, Thrombocytopenia, Anemia, Bone-marro... OMIM:278000
Zika Virus Disease
Increased circulating IgM level, Thrombocytopenia ORPHA:448237
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Bone marrow hypocellularity, Lymphopenia, Leukopenia, Reticulocytopenia, B lymphocytopenia, Neutr... ORPHA:508542
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Primary amenorrhea, Testicular atrophy, Premature ovarian insufficiency, Secondary amenorrhea, Hy... OMIM:157640
Dyskeratosis Congenita, Autosomal Dominant 3
Bone marrow hypocellularity, Aplastic anemia, Pancytopenia, Leukopenia, Macrocytic anemia, Neutro... OMIM:613990
Chediak-Higashi Syndrome
Hemophagocytosis, Leukopenia, Giant neutrophil granules, Splenomegaly, Abnormal dense granules, N... OMIM:214500
Schimke Immunoosseous Dysplasia
Lymphopenia, Pancytopenia, Abnormal T cell morphology, Abnormal immunoglobulin level, Thrombocyto... OMIM:242900
Cyclic Neutropenia
Lymphopenia, Decreased eosinophil count, Cyclic neutropenia, Thrombocytopenia ORPHA:2686
Dyskeratosis Congenita, Autosomal Dominant 1
Bone marrow hypocellularity, Increased mean corpuscular volume, Aplastic anemia, Lymphopenia, Leu... OMIM:127550
Combined Immunodeficiency Due To Crac Channel Dysfunction
Hemolytic anemia, Splenomegaly, Thrombocytopenia ORPHA:169090
Ataxia-Telangiectasia
Decreased circulating IgG level, Defective B cell differentiation, Lymphopenia, Decreased circula... OMIM:208900
Braddock-Carey Syndrome 1
Thrombocytopenia OMIM:619980
Proteasome-Associated Autoinflammatory Syndrome 3
Lymphopenia, Splenomegaly, Increased circulating antibody level, Thrombocytopenia, Anemia OMIM:617591
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures
Thrombocytopenia OMIM:617710
Osteopetrosis, Autosomal Recessive 1
Anemia, Pancytopenia, Splenomegaly, Thrombocytopenia OMIM:259700
Methylmalonic Aciduria, Cblb Type
Anemia, Pancytopenia, Thrombocytopenia, Neutropenia OMIM:251110
Vexas Syndrome
Thrombocytopenia, Macrocytic anemia OMIM:301054
Wilson Disease
Anemia, Splenomegaly, Thrombocytopenia ORPHA:905
Smith-Kingsmore Syndrome
Decreased circulating IgA level, Thrombocytopenia OMIM:616638
Preeclampsia
Thrombocytopenia ORPHA:275555
Maternal Uniparental Disomy Of Chromosome 6
Thrombocytopenia ORPHA:96181
Fanconi Anemia, Complementation Group E
Pancytopenia, Anemia, Reticulocytopenia, Neutropenia, Thrombocytopenia, Leukemia OMIM:600901
Ebola Hemorrhagic Fever
Lymphopenia, Leukopenia, Thrombocytopenia, Increased circulating antibody level ORPHA:319218
Lig4 Syndrome
Pancytopenia, Acute lymphoblastic leukemia, Thrombocytopenia OMIM:606593
Snakebite Envenomation
Thrombocytopenia ORPHA:449285
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Leukopenia, Thrombocytopenia, Neutropenia OMIM:251000
Acute Radiation Syndrome
Lymphopenia, Granulocytopenia, Thrombocytopenia ORPHA:454831
Dyskeratosis Congenita, Autosomal Recessive 1
Bone marrow hypocellularity, Pancytopenia, Aplastic anemia, Thrombocytopenia OMIM:224230
Immunodeficiency 49
Abnormally low T cell receptor excision circle level, Lymphopenia, Eosinophilia, Impaired lymphoc... OMIM:617237
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis
Abnormal circulating interleukin concentration, Rheumatoid factor positive ORPHA:85435
Alg8-Cdg
Anemia, Thrombocytopenia ORPHA:79325
Mitochondrial Complex I Deficiency, Nuclear Type 20
Thrombocytopenia OMIM:611126
Mevalonic Aciduria
Fluctuating splenomegaly, Hepatosplenomegaly, Leukocytosis, Thrombocytopenia, Anemia, Increased c... OMIM:610377
Hellp Syndrome
Microangiopathic hemolytic anemia, Hemolytic anemia, Prolonged prothrombin time, Thrombocytopenia... ORPHA:244242
Shwachman-Diamond Syndrome 2
Normocytic anemia, Prolonged prothrombin time, Thrombocytopenia, Neutropenia OMIM:617941
Methylmalonic Aciduria, Cbla Type
Anemia, Pancytopenia, Thrombocytopenia, Neutropenia OMIM:251100
Hemophagocytic Syndrome Associated With An Infection
Hemophagocytosis, Pancytopenia, Abnormal T cell subset distribution, Splenomegaly, Neutropenia, T... ORPHA:158048
Fanconi Anemia, Complementation Group A
Pancytopenia, Anemia, Reticulocytopenia, Neutropenia, Thrombocytopenia, Leukemia OMIM:227650
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Pancytopenia, Megaloblastic anemia, Thrombocytopenia, Neutropenia, Anemia OMIM:277380
Shwachman-Diamond Syndrome 1
Persistence of hemoglobin F, Pancytopenia, Acute myeloid leukemia, Neutropenia, Thrombocytopenia,... OMIM:260400
Bone Marrow Failure Syndrome 3
Bone marrow hypocellularity, Aplastic anemia, Increased mean corpuscular volume, Persistence of h... OMIM:617052
Mucopolysaccharidosis-Plus Syndrome
Bone marrow hypocellularity, Leukopenia, Splenomegaly, Thrombocytopenia, Neutropenia, Anemia, Inc... OMIM:617303
Gaucher Disease Type 1
Splenic infarction, Hepatosplenomegaly, Pancytopenia, Hypersplenism, Leukopenia, Splenomegaly, In... ORPHA:77259
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Thrombocytopenia, Normochromic anemia OMIM:618775
Acyl-Coa Dehydrogenase 9 Deficiency
Prolonged prothrombin time, Thrombocytopenia ORPHA:99901
Combined Oxidative Phosphorylation Deficiency 14
Anemia, Thrombocytopenia OMIM:614946
Mgat2-Cdg
Decreased circulating IgG level, Decreased circulating antibody level, Impaired lymphocyte transf... ORPHA:79329
3-Methylglutaconic Aciduria, Type Viib
Prolonged prothrombin time, Leukopenia, Thrombocytopenia, Neutropenia OMIM:616271
Mirage Syndrome
Lymphopenia, Leukopenia, Thrombocytopenia, Anemia, Hypoplastic spleen OMIM:617053
Noonan Syndrome
Abnormality of the spleen, Abnormal platelet function, Juvenile myelomonocytic leukemia ORPHA:648
Pseudo-Torch Syndrome 1
Splenomegaly, Thrombocytopenia OMIM:251290
Fanconi Anemia, Complementation Group C
Bone marrow hypocellularity, Pancytopenia, Anemia, Reticulocytopenia, Neutropenia, Thrombocytopen... OMIM:227645
Pseudo-Torch Syndrome 2
Thrombocytopenia OMIM:617397
Pediatric Systemic Lupus Erythematosus
Lymphopenia, Leukopenia, Thrombocytopenia, Microangiopathic hemolytic anemia ORPHA:93552
Spondyloenchondrodysplasia With Immune Dysregulation
Rheumatoid arthritis, Systemic lupus erythematosus, Lymphopenia, Autoimmunity, T lymphocytopenia,... OMIM:607944
Immunodeficiency 47
Accessory spleen, Normocytic anemia, Decreased circulating total IgG, Chronic decreased circulati... OMIM:300972
Ivic Syndrome
Leukocytosis, Thrombocytopenia ORPHA:2307
Avian Influenza
Lymphopenia, Leukopenia, Thrombocytopenia ORPHA:454836
Vici Syndrome
Decreased circulating IgG level, Cutaneous anergy, Lymphopenia, Leukopenia, Decreased proportion ... OMIM:242840
Pseudohypoparathyroidism Type 1A
Abnormal platelet function ORPHA:79443
Shwachman-Diamond Syndrome
Normocytic anemia, Bone marrow hypocellularity, Aplastic anemia, Increased mean corpuscular volum... ORPHA:811
Congenital Disorder Of Glycosylation, Type Iig
Anemia, Giant platelets, Thrombocytopenia OMIM:611209
Pearson Marrow-Pancreas Syndrome
Sideroblastic anemia, Pancytopenia, Refractory sideroblastic anemia, Reticulocytopenia, Neutropen... OMIM:557000
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Lymphopenia, Hepatosplenomegaly, Leukopenia, Splenomegaly, Erythroid hypoplasia, Hypoplasia of th... OMIM:612541
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Splenomegaly, Impaired T cell function OMIM:201100
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Leukopenia, Thrombocytopenia OMIM:301056
Fetal And Neonatal Alloimmune Thrombocytopenia
Neonatal alloimmune thrombocytopenia ORPHA:853
Catastrophic Antiphospholipid Syndrome
Thrombocytopenia, Coombs-positive hemolytic anemia, Microangiopathic hemolytic anemia ORPHA:464343
Recon Progeroid Syndrome
Anemia, Thrombocytopenia OMIM:620370
Fanconi Anemia, Complementation Group F
Anemia, Bone marrow hypocellularity, Leukopenia, Thrombocytopenia OMIM:603467
Pediatric-Onset Graves Disease
Thrombocytopenia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies ORPHA:525731
Necrotizing Enterocolitis
Thrombocytopenia, Leukocytosis, Neutropenia ORPHA:391673
Hereditary Amyloidosis With Primary Renal Involvement
Hypogonadism, Oligozoospermia, Abnormal testis morphology, Primary testicular failure, Male infer... ORPHA:85450
Mogs-Cdg
Decreased circulating IgG level, Hepatosplenomegaly, Decreased circulating IgA level, Thrombocyto... ORPHA:79330
Immunodeficiency 26 With Or Without Neurologic Abnormalities
T lymphocytopenia, Abnormal natural killer cell morphology, B lymphocytopenia OMIM:615966
Adult Acute Respiratory Distress Syndrome
Increased circulating interleukin 6 concentration, Abnormal circulating interleukin concentration... ORPHA:70578
Hermansky-Pudlak Syndrome 8
Impaired platelet aggregation OMIM:614077
Fanconi Anemia, Complementation Group B
Aplastic anemia, Thrombocytopenia OMIM:300514
Diamond-Blackfan Anemia
Macrocytic dyserythropoietic anemia, Increased mean corpuscular volume, Persistence of hemoglobin... ORPHA:124
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Incre... ORPHA:508533
Holocarboxylase Synthetase Deficiency
Thrombocytopenia OMIM:253270
Diamond-Blackfan Anemia 21
Erythroid hypoplasia, Anemia, Thrombocytopenia OMIM:620072
Sepsis In Premature Infants
Leukocytosis, Splenomegaly, Thrombocytopenia, Neutropenia, Anemia ORPHA:90051
Gaucher Disease, Type Ii
Anemia, Splenomegaly, Thrombocytopenia OMIM:230900
Immunodeficiency 58
Cutaneous abscess, Decreased specific antibody response to vaccination, Decreased T cell activati... OMIM:618131
Aicardi-Goutieres Syndrome 1
Splenomegaly, Thrombocytopenia OMIM:225750
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Thrombocytopenia OMIM:208085
Overlap Myositis
Leukopenia, Thrombocytopenia ORPHA:206572
Noonan Syndrome 4
Thrombocytopenia OMIM:610733
Alg12-Cdg
Abnormal circulating IgM level, Complete or near-complete absence of specific antibody response t... ORPHA:79324
Castleman Disease
Anemia, Decreased mean corpuscular volume, Thrombocytopenia ORPHA:160
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Thrombocytopenia, Normochromic anemia OMIM:254900
Kaposiform Lymphangiomatosis
Hepatosplenomegaly, Splenomegaly, Abnormal spleen morphology, Thrombocytopenia, Anemia ORPHA:464329
Gaucher Disease, Perinatal Lethal
Anemia, Hepatosplenomegaly, Splenomegaly, Thrombocytopenia OMIM:608013
Adams-Oliver Syndrome
Leukopenia, Thrombocytopenia ORPHA:974
Combined Oxidative Phosphorylation Deficiency 55
Anemia, Thrombocytopenia OMIM:619743
16Q24.3 Microdeletion Syndrome
Increased mean corpuscular volume, Thrombocytopenia ORPHA:261250
Neuroblastoma
Anemia, Thrombocytopenia ORPHA:635
Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies
Lymphopenia, Pancytopenia, Leukopenia, Thrombocytopenia, Anemia OMIM:620654
Takenouchi-Kosaki Syndrome
Thrombocytopenia, Increased mean platelet volume OMIM:616737
Sweet Syndrome
Abnormal circulating interleukin concentration, Increased circulating interleukin 6 concentration... ORPHA:3243
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Microangiopathic hemolytic anemia, Leukocytosis, Reticulocytosis, Schistocytosis, Thrombocytopenia ORPHA:90038
Lathosterolosis
Abnormal platelet morphology, Thrombocytopenia, Anisopoikilocytosis ORPHA:46059
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Decreased mean platelet volume, Lymphocytosis, Thrombocytopenia OMIM:617718
Lesch-Nyhan Syndrome
Testicular atrophy OMIM:300322
Farber Disease
Anemia, Hepatosplenomegaly, Thrombocytopenia ORPHA:333
Fanconi Anemia, Complementation Group D2
Bone marrow hypocellularity, Pancytopenia, Anemia, Reticulocytopenia, Neutropenia, Thrombocytopen... OMIM:227646
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Thrombocytopenia ORPHA:457351
21Q22.11Q22.12 Microdeletion Syndrome
Anemia, Thrombocytopenia ORPHA:261323
Bcard Syndrome
Thrombocytopenia OMIM:612394
Gaucher Disease Type 3
Pancytopenia, Splenomegaly, Increased circulating antibody level, Thrombocytopenia, Anemia ORPHA:77261
Ciliary Dyskinesia, Primary, 1
Absent outer dynein arms, Male infertility OMIM:244400
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Bone marrow hypocellularity, Decreased circulating IgG level, Hepatosplenomegaly, Leukopenia, Thr... ORPHA:505248
Diamond-Blackfan Anemia 1
Increased mean corpuscular volume, Persistence of hemoglobin F, Elevated red cell adenosine deami... OMIM:105650
Rift Valley Fever
Anemia, Increased circulating IgG level, Increased circulating IgM level, Thrombocytopenia ORPHA:319251
Alport Syndrome 1, X-Linked
Thrombocytopenia OMIM:301050
Nijmegen Breakage Syndrome
Autoimmune hemolytic anemia, Dysgammaglobulinemia, Thrombocytopenia, B lymphocytopenia, T lymphoc... OMIM:251260
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Accessory spleen, Decreased circulating IgG level, Severe B lymphocytopenia, Lymphopenia, Decreas... OMIM:620005
Tangier Disease
Anemia, Hepatosplenomegaly, Thrombocytopenia ORPHA:31150
Thrombocytopenia-Absent Radius Syndrome
Thrombocytopenia ORPHA:3320
Wars2-Related Combined Oxidative Phosphorylation Defect
Thrombocytopenia ORPHA:572798
Ivic Syndrome
Leukocytosis, Thrombocytopenia OMIM:147750
Lujo Hemorrhagic Fever
Lymphopenia, Leukopenia, Leukocytosis, Thrombocytopenia ORPHA:319213
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Anemia, Bone marrow hypocellularity, Thrombocytopenia OMIM:612199
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Splenomegaly, Thrombocytopenia OMIM:251880
Q Fever
Hepatosplenomegaly, Splenomegaly, Increased circulating antibody level, Thrombocytopenia, Anemia ORPHA:781
Shigellosis
Thrombocytopenia, Leukocytosis, Splenic abscess, Microangiopathic hemolytic anemia ORPHA:810
Atelis Syndrome 2
Anemia, Thrombocytopenia OMIM:620185
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Lymphopenia, Hepatosplenomegaly, Autoimmune hemolytic anemia, B lymphocytopenia, Neutropenia in p... ORPHA:391487
Lysinuric Protein Intolerance
Hemophagocytosis, Leukopenia, Splenomegaly, Thrombocytopenia, Anemia OMIM:222700
Stevens-Johnson Syndrome
Anemia, Abnormality of neutrophils, Thrombocytopenia ORPHA:36426
Bacterial Toxic-Shock Syndrome
Increased circulating myelocyte count, Increased circulating metamyelocyte count, Thrombocytopenia ORPHA:36234
Toxic Epidermal Necrolysis
Anemia, Thrombocytopenia, Neutropenia ORPHA:537
Down Syndrome
Polycythemia, Acute megakaryocytic leukemia, Thrombocytopenia, Neutrophilia, Leukemia ORPHA:870
Porphyria, Congenital Erythropoietic
Reduced erythrocyte uroporphyrinogen III cosynthase activity, Hemolytic anemia, Splenomegaly, Thr... OMIM:263700
Autoinflammatory Disease, Systemic, With Vasculitis
Hepatosplenomegaly, Decreased circulating IgA level, Leukocytosis, Splenomegaly, Abnormal circula... OMIM:620376
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Decreased hemoglobin concentration, Thrombocytopenia OMIM:619005
Idiopathic Hypereosinophilic Syndrome
Hepatosplenomegaly, Thrombocytosis, Leukocytosis, Splenomegaly, Eosinophilia, Thrombocytopenia, N... ORPHA:3260
Immunodeficiency 82 With Systemic Inflammation
Decreased lymphocyte proliferation in response to mitogen, Reduced natural killer cell count, Dec... OMIM:619381
Aicardi-Goutieres Syndrome 7
Pancytopenia, Splenomegaly, Increased circulating antibody level, Thrombocytopenia, Anemia, Hemol... OMIM:615846
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Thrombocytopenia, Megaloblastic anemia, Neutropenia OMIM:277400
Paroxysmal Nocturnal Hemoglobinuria
Pancytopenia, Leukopenia, Erythroid hyperplasia, Reticulocytosis, Abnormal erythrocyte enzyme con... ORPHA:447
Dyskeratosis Congenita
Bone marrow hypocellularity, Splenomegaly, Thrombocytopenia, Anemia, Abnormality of neutrophils ORPHA:1775
Tick-Borne Encephalitis
Leukopenia, Leukocytosis, Thrombocytopenia, Increased circulating IgG level, Increased circulatin... ORPHA:297
Dubowitz Syndrome
Anemia, Abnormality of neutrophils, Acute lymphoblastic leukemia, Thrombocytopenia ORPHA:235
Congenital Erythropoietic Porphyria
Leukopenia, Erythroid hyperplasia, Reticulocytosis, Splenomegaly, Anisocytosis, Thrombocytopenia,... ORPHA:79277
Steinert Myotonic Dystrophy
Male hypogonadism, Cholelithiasis, Impotence, Decreased response to growth hormone stimulation te... ORPHA:273
Neuroleptic Malignant Syndrome
Leukocytosis, Thrombocytopenia, Thrombocytosis ORPHA:94093
X-Linked Intellectual Disability, Snyder Type
Testicular atrophy, Abnormality of the Leydig cells, Hypospadias, Cryptorchidism ORPHA:3063
Fibular Hemimelia
Thrombocytopenia ORPHA:93323
Multiple Mitochondrial Dysfunctions Syndrome 7
Thrombocytopenia OMIM:620423
Insulin-Resistance Syndrome Type B
Increased circulating IgG level, Leukopenia, Increased circulating IgA level, Thrombocytopenia ORPHA:2298
Immunodeficiency 87 And Autoimmunity
Lymphopenia, Decreased CD4:CD8 ratio, Autoimmune hemolytic anemia, Decreased proportion of CD4-po... OMIM:619573
Sarcoidosis, Susceptibility To, 1
Pancytopenia, Abnormality of T cell physiology, Splenomegaly, Increased circulating antibody level OMIM:181000
Osteopetrosis With Renal Tubular Acidosis
Bone marrow hypocellularity, Pancytopenia, Leukopenia, Thrombocytopenia, Elliptocytosis, Anemia ORPHA:2785
Nijmegen Breakage Syndrome
Acute leukemia, Hemolytic anemia, Autoimmune hemolytic anemia, Thrombocytopenia ORPHA:647
Leukocyte Adhesion Deficiency
Bone marrow hypocellularity, Abnormality of neutrophil physiology, Polycythemia, Impaired platele... ORPHA:2968
Caroli Syndrome
Hypersplenism, Leukocytosis, Leukopenia, Thrombocytopenia ORPHA:480520
Pearson Syndrome
Bone marrow hypocellularity, Pancytopenia, Reticulocytosis, Splenomegaly, Neutropenia, Thrombocyt... ORPHA:699
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Thrombocytopenia, Megaloblastic anemia, Neutropenia ORPHA:79282
Brucellosis
Hypersplenism, Leukopenia, Leukocytosis, Splenomegaly, Thrombocytopenia, Thrombocytosis, Anemia, ... ORPHA:1304
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Splenomegaly, Thrombocytopenia OMIM:301072
Primary Sjögren Syndrome
Normocytic anemia, Lymphopenia, Leukopenia, Decreased proportion of CD4-positive helper T cells, ... ORPHA:289390
Dyskeratosis Congenita, X-Linked
Bone marrow hypocellularity, Pancytopenia, Leukopenia, Acute myeloid leukemia, Thrombocytopenia, ... OMIM:305000
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Thrombocytopenia ORPHA:464321
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Anemia, Thrombocytopenia ORPHA:163979
Velocardiofacial Syndrome
Impaired T cell function OMIM:192430
Deeah Syndrome
Decreased hemoglobin concentration, Thrombocytopenia OMIM:619004
Thrombocytopenia-Absent Radius Syndrome
Hepatosplenomegaly, Leukocytosis, Eosinophilia, Thrombocytopenia, Anemia, Decreased circulating a... OMIM:274000
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Thrombocytopenia, Increased mean platelet volume ORPHA:487796
Marburg Hemorrhagic Fever
Neutrophilia in presence of infection, Lymphopenia, Abnormal lymphocyte morphology, Leukopenia, R... ORPHA:99826
Cornelia De Lange Syndrome 1
Thrombocytopenia OMIM:122470
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Abnormality of T cell physiology ORPHA:2237
Lysinuric Protein Intolerance
Hemophagocytosis, Leukopenia, Hepatosplenomegaly, Increased circulating antibody level, Thrombocy... ORPHA:470
Congenital Disorder Of Glycosylation, Type Iiw
Microcytic anemia, Splenomegaly, Prolonged prothrombin time, Thrombocytopenia, Anemia OMIM:619525
Kikuchi-Fujimoto Disease
Leukopenia, Splenomegaly, Lymphocytosis, Neutropenia, Thrombocytopenia, Anemia ORPHA:50918
Gaucher Disease
Splenic infarction, Pancytopenia, Leukopenia, Splenomegaly, Increased circulating antibody level,... ORPHA:355
Jacobsen Syndrome
Thrombocytopenia OMIM:147791
Progeria-Short Stature-Pigmented Nevi Syndrome
Microcytic anemia, T lymphocytopenia ORPHA:2959
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Hashimoto thyroiditis, Abnormal B cell morphology, Aplasia of the thymus, T lymphocytopenia OMIM:618223
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Abnormality of the spleen, Hepatosplenomegaly, Pancytopenia, Splenomegaly, Thrombocytopenia, Anemia ORPHA:2072
Hemorrhagic Fever-Renal Syndrome
Anemia, Leukocytosis, Thrombocytopenia ORPHA:340
Infection-Related Hemolytic Uremic Syndrome
Hemolytic anemia, Thrombocytopenia, Leukocytosis ORPHA:544482
Wilson Disease
Anemia, Hemolytic anemia, Splenomegaly, Thrombocytopenia OMIM:277900
Igg4-Related Dacryoadenitis And Sialadenitis
Increased circulating IgG4 level, Increased circulating IgA level, Thrombocytopenia, Increased ci... ORPHA:79078
Progeroid Short Stature With Pigmented Nevi
Impaired T cell function OMIM:176690
Fanconi Anemia
Anemia, Leukopenia, Thrombocytopenia, Pyridoxine-responsive sideroblastic anemia ORPHA:84
Systemic Lupus Erythematosus
Leukopenia, Hemolytic anemia, Thrombocytopenia ORPHA:536
Jacobsen Syndrome
Bone marrow hypocellularity, Thrombocytopenia ORPHA:2308
Ogden Syndrome
Iron deficiency anemia, Polycythemia, Thrombocytopenia OMIM:300855
Yellow Fever
Neutrophilia, Leukocytosis, Prolonged prothrombin time, Thrombocytopenia, Increased circulating I... ORPHA:99829
Proteasome-Associated Autoinflammatory Syndrome 1
Microcytic anemia, Splenomegaly, Increased circulating antibody level, Increased circulating IgA ... OMIM:256040
Crimean-Congo Hemorrhagic Fever
Pancytopenia, Leukopenia, Leukocytosis, Splenomegaly, Thrombocytopenia, Neutrophilia, Increased c... ORPHA:99827
Bartter Syndrome, Type 2, Antenatal
Impaired platelet aggregation OMIM:241200
22Q11.2 Deletion Syndrome
Impaired T cell function, Autoimmunity, Splenomegaly, Hypoplasia of the thymus, Thrombocytopenia ORPHA:567
Oculocerebrorenal Syndrome Of Lowe
Anemia, Thrombocytopenia ORPHA:534
Roberts Syndrome
Thrombocytopenia ORPHA:3103
Chronic Visceral Acid Sphingomyelinase Deficiency
Hypersplenism, Splenomegaly, Thrombocytopenia, Acute promyelocytic leukemia, Autoimmune thrombocy... ORPHA:77293
Autosomal Recessive Polycystic Kidney Disease
Hepatosplenomegaly, Splenomegaly, Thrombocytopenia, Hypersplenism ORPHA:731
Hardikar Syndrome
Hepatosplenomegaly, Splenomegaly, Thrombocytopenia, Hypersplenism OMIM:301068
Cystic Fibrosis
Absent vas deferens, Male infertility ORPHA:586
Acute Liver Failure
Prolonged prothrombin time, Thrombocytopenia ORPHA:90062
Sarcoidosis
Leukopenia, Increased T cell count, Eosinophilia, Thrombocytopenia, Anemia, Hemolytic anemia ORPHA:797
Aicardi-Goutières Syndrome
Chronic lymphatic leukemia, Hepatosplenomegaly, Neonatal alloimmune thrombocytopenia ORPHA:51
Exercise-Induced Malignant Hyperthermia
Thrombocytopenia ORPHA:466650
Osteogenesis Imperfecta
Thrombocytopenia ORPHA:666
Digeorge Syndrome
Impaired T cell function, Splenomegaly, Hypoplasia of the thymus, Thrombocytopenia, Anemia OMIM:188400
Liver Disease, Severe Congenital
Leukopenia, Splenomegaly, Lymphocytosis, Thrombocytopenia, Anemia OMIM:619991
Leptospirosis
Thrombocytopenia ORPHA:509
Noonan Syndrome 1
Juvenile myelomonocytic leukemia, Amegakaryocytic thrombocytopenia OMIM:163950

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Bcl2l1

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Bcl2l1.

No publications found that use IMPC mice or data for Bcl2l1.

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MGI Allele Allele Type Produced
Bcl2l1tm1(KOMP)Mbp Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells

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