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Gene: Pik3cg MGI:1353576

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Gene Summary

Name:
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma
Synonyms:
PI3Kgamma,  PI(3)Kgamma,  5830428L06Rik,  p110gamma,  PI3Kgamma

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
decreased circulating potassium level Pik3cgtm1a(EUCOMM)Wtsi HOM Early adult 9.53×10-05

Download data as:  TSV  XLS

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

lacZ Expression

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

Anatomy Images Zygosity Mutant Expr
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Aorta N/A heterozygote Not available
Blood vessel N/A heterozygote 0.0% (0 of 2)
Bone N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 100% (2 of 2)
Brainstem N/A heterozygote Not available
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 0.0% (0 of 2)
Cerebellum N/A heterozygote Not available
Cerebral cortex N/A heterozygote Not available
Eye N/A heterozygote 0.0% (0 of 2)
Gall bladder N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote 0.0% (0 of 2)
Hippocampus N/A heterozygote Not available
Hypothalamus N/A heterozygote Not available
Kidney N/A heterozygote 0.0% (0 of 2)
Large intestine N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote 0.0% (0 of 2)
Lung N/A heterozygote 0.0% (0 of 2)
Lymph node N/A heterozygote 100% (2 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Esophagus N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote Not available
Ovary N/A heterozygote 0.0% (0 of 2)
Oviduct N/A heterozygote 0.0% (0 of 2)
Pancreas N/A heterozygote 50% (1 of 2)
Parathyroid gland N/A heterozygote 0.0% (0 of 2)
Peripheral nervous system N/A heterozygote 0.0% (0 of 2)
Peyer's patch N/A heterozygote 50% (1 of 2)
Pituitary gland N/A heterozygote 0.0% (0 of 2)
Prostate gland N/A heterozygote 0.0% (0 of 2)
Skeletal muscle tissue N/A heterozygote 0.0% (0 of 2)
Skin N/A heterozygote 0.0% (0 of 2)
Small intestine N/A heterozygote 0.0% (0 of 2)
Spinal cord N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 100% (2 of 2)
Stomach N/A heterozygote 0.0% (0 of 2)
Striatum N/A heterozygote Not available
Testis N/A heterozygote 50% (1 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 0.0% (0 of 2)
Trachea N/A heterozygote 0.0% (0 of 2)
Uterus N/A heterozygote 0.0% (0 of 2)
White adipose tissue N/A heterozygote 0.0% (0 of 2)
No Embryo expression data was found for this gene.

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.67% (4 of 598)
aorta 0.17% (1 of 598)
blood vessel 0.0%
bone 0.0%
brain 0.84% (5 of 598)
brainstem 0.33% (2 of 598)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 598)
cerebellum 0.5% (3 of 598)
cerebral cortex 0.33% (2 of 598)
eye 0.0%
gall bladder 0.0%
heart 0.33% (2 of 598)
hippocampus 0.5% (3 of 598)
hypothalamus 0.33% (2 of 598)
kidney 4.52% (27 of 598)
large intestine 5.35% (32 of 598)
liver 0.0%
lower urinary tract 0.17% (1 of 598)
lung 0.33% (2 of 598)
lymph node 0.17% (1 of 598)
mammary gland 0.0%
oesophagus 0.0%
olfactory lobe 0.33% (2 of 598)
ovary 0.17% (1 of 598)
oviduct 0.0%
pancreas 0.84% (5 of 598)
parathyroid gland 0.17% (1 of 576)
peripheral nervous system 0.33% (2 of 598)
peyer's patch 0.57% (1 of 176)
pituitary gland 0.17% (1 of 598)
prostate gland 2.17% (13 of 598)
skeletal muscle tissue 0.0%
skin 0.17% (1 of 598)
small intestine 5.35% (32 of 598)
spinal cord 0.5% (3 of 598)
spleen 0.5% (3 of 598)
stomach 3.68% (22 of 598)
striatum 0.5% (3 of 598)
testis 1% (6 of 598)
thymus 0.17% (1 of 598)
thyroid gland 3.01% (18 of 598)
trachea 0.5% (3 of 598)
uterus 0.33% (2 of 598)
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

Associated Images

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

Legacy Phenotype Associated Images
Pik3cgtm1a(EUCOMM)Wtsi
forearm, WT, Male, WTSI
Pik3cgtm1a(EUCOMM)Wtsi
body, WT, Male, WTSI
Pik3cgtm1a(EUCOMM)Wtsi
body, WT, Male, WTSI
Pik3cgtm1a(EUCOMM)Wtsi
body, WT, Male, WTSI
Pik3cgtm1a(EUCOMM)Wtsi
head, WT, Male, WTSI

View all 113 images

Pik3cgtm1a(EUCOMM)Wtsi
persistence of hyaloid vascular system, HOM, Female, WTSI
Pik3cgtm1a(EUCOMM)Wtsi
abnormal retinal pigmentation, left eye, HOM, Female, WTSI
Pik3cgtm1a(EUCOMM)Wtsi
eye, corneal opacity, cornea/lens fusion, HOM, Female, WTSI
Pik3cgtm1a(EUCOMM)Wtsi
eye, cataracts, HOM, Female, WTSI
Pik3cgtm1a(EUCOMM)Wtsi
back skin, HOM, Female, WTSI

Human diseases caused by Pik3cg mutations

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

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

The table below shows human diseases associated to Pik3cg by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Immunodeficiency 97 With Autoinflammation
Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Hepatosplenomegaly, Eosinophilia,... OMIM:619802

The table below shows human diseases predicted to be associated to Pik3cg by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Neutrophil Immunodeficiency Syndrome
Leukocytosis, Abnormality of neutrophil physiology ORPHA:183707
Granulomatous disease with defect in neutrophil chemotaxis
Impaired neutrophil killing of staphylococci, Recurrent staphylococcal infections OMIM:233670
Pa Polymorphism Of Alpha-2-Globulin
Abnormal immunoglobulin level OMIM:260100
Specific Granule Deficiency 1
Absent neutrophil specific granules, Hyposegmentation of neutrophil nuclei, Recurrent bacterial i... OMIM:245480
Immunodeficiency 86
Impaired oxidative burst, BCGitis, Increased circulating IgM level, Decreased circulating IgG level OMIM:619549
Myelolymphatic Insufficiency
Leukopenia, Recurrent bacterial infections, Hyposegmentation of neutrophil nuclei, Recurrent vira... OMIM:310350
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Recurrent bacterial infections, Recurrent protozoan infections, Abnormality of T cell physiology,... OMIM:308220
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
Recurrent candida infections, Recurrent bacterial infections, T lymphocytopenia, Decreased circul... OMIM:242870
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Agammaglobulinemia, Hypoplasia of the thymus, Lymphopenia OMIM:200900
Reticular Dysgenesis
Leukopenia, Hypoplasia of the thymus, Lack of T cell function, Lymphopenia, Impaired T cell funct... OMIM:267500
Thrombocytopenia 7
Impaired arachidonic acid-induced platelet aggregation, Impaired ADP-induced platelet aggregation... OMIM:619130
Immunodeficiency 81
Reduced natural killer cell activity, Impaired neutrophil chemotaxis, Reduced antigen-specific T ... OMIM:619374
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Recurrent bacterial infections, Neutropenia, Recurrent streptococcus pneumoniae infections, Recur... ORPHA:70592
Immunodeficiency 108 With Autoinflammation
Impaired neutrophil chemotaxis, Recurrent abscess formation, Hyposegmentation of neutrophil nuclei OMIM:260570
Pseudoxanthomatous Diffuse Cutaneous Mastocytosis
Cutaneous mastocytosis ORPHA:280794
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Anemia, Increased circulating antibody level, Acute monocytic leukemia, Thrombocytosis, Eosinophi... OMIM:202700
Immunodeficiency 15B
Reduced natural killer cell count, Decreased lymphocyte proliferation in response to mitogen, Dec... OMIM:615592
Immunodeficiency 18
Defective T cell proliferation, Lymphopenia, Decreased proportion of CD3-positive T cells OMIM:615615
Immunodeficiency 24
Decreased CD4:CD8 ratio, Decreased specific pneumococcal antibody level, Reduced proportion of mu... OMIM:615897
Immunodeficiency, Common Variable, 5
Recurrent bacterial infections, Chronic decreased circulating total IgG, Recurrent respiratory in... OMIM:613495
Ras-Associated Autoimmune Leukoproliferative Disorder
Splenomegaly, Hemolytic anemia, Leukemia, Increased circulating antibody level, Lymphocytosis, Pa... OMIM:614470
Immunodeficiency 103, Susceptibility To Fungal Infections
Hypereosinophilia, Abnormal natural killer cell count, Abnormal proportion of CD8-positive T cell... OMIM:212050
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Recurrent bacterial infections, Neutropenia, Recurrent respiratory infections, Recurrent otitis m... OMIM:616022
Immunodeficiency 110 With Lymphoproliferation
Lymphopenia, Recurrent bacterial infections, Recurrent viral infections, Neutropenia, Recurrent f... OMIM:614868
Immunodeficiency 50
Neutropenia, Eczema, Lymphopenia, Decreased circulating antibody level OMIM:300988
Immunodeficiency 14B, Autosomal Recessive
Decreased circulating total IgM, B lymphocytopenia, Reduced natural killer cell activity, Neutrop... OMIM:619281
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Lymphadenitis, Leukopenia, T lymphocytopenia, Monocytopenia, B lymphocytopenia, Impaired neutroph... OMIM:618986
Agammaglobulinemia 3, Autosomal Recessive
Abnormal T cell morphology, Absent isohemagglutinin level, Neutropenia, Recurrent bronchitis, Rec... OMIM:613501
Athrombia, Essential
Prolonged bleeding time, Impaired platelet adhesion, Impaired platelet aggregation OMIM:209050
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin
Decreased circulating IgA level OMIM:235500
Immunodeficiency With Hyper-Igm, Type 3
Impaired Ig class switch recombination, Decreased circulating IgE, Recurrent bacterial infections... OMIM:606843
Wiskott-Aldrich Syndrome 2
Reduced natural killer cell activity, Defective T cell proliferation, Decreased proportion of CD8... OMIM:614493
Neutropenia, Chronic Familial
Increased circulating antibody level, Neutropenia, Periodontitis OMIM:162700
Bleeding Disorder, Platelet-Type, 24
Impaired arachidonic acid-induced platelet aggregation, Impaired ADP-induced platelet aggregation... OMIM:619271
Thrombocythemia 1
Impaired ADP-induced platelet aggregation, Impaired epinephrine-induced platelet aggregation, Thr... OMIM:187950
Retinal Telangiectasia And Hypogammaglobulinemia
Reduced delayed hypersensitivity, Decreased circulating IgG level OMIM:267900
Autoimmune Lymphoproliferative Syndrome
Chronic noninfectious lymphadenopathy, Splenomegaly, Elevated proportion of CD4-negative, CD8-neg... OMIM:601859
Immune Deficiency, Familial Variable
Decreased circulating IgA level, Decreased circulating IgG level OMIM:146830
Platelet Signal Processing Defect
Thrombocytopenia, Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet a... OMIM:173590
Glanzmann Thrombasthenia 2
Decreased platelet glycoprotein IIb-IIIa, Impaired ADP-induced platelet aggregation, Impaired epi... OMIM:619267
Immunodeficiency With Hyper-Igm, Type 2
Complete or near-complete absence of specific antibody response to tetanus vaccine, Impaired Ig c... OMIM:605258
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Impaired neutrophil chemotaxis, Neutrophilia, Abnormally low T cell receptor excision circle leve... OMIM:608203
Immunodeficiency 35
Recurrent mycobacterial infections, Recurrent viral infections, Recurrent respiratory infections,... OMIM:611521
Agammaglobulinemia 4, Autosomal Recessive
Abnormal T cell morphology, Decreased circulating total IgM, Neutropenia, Recurrent otitis media,... OMIM:613502
Agammaglobulinemia 2, Autosomal Recessive
Abnormal T cell morphology, Decreased circulating total IgM, Recurrent respiratory infections, Re... OMIM:613500
Undritz Anomaly
Hypersegmentation of neutrophil nuclei OMIM:191500
Immunodeficiency 11
Monocytopenia, Decreased proportion of CD4+CD25+ regulatory T cells, Decreased circulating antibo... OMIM:615206
Gamma-A-Globulin, Defect In Assembly Of
Decreased circulating IgA level OMIM:137050
Kimura Disease
Lymphadenopathy, Follicular hyperplasia, Abnormal salivary gland morphology, Eosinophilia, Increa... ORPHA:482
Severe Combined Immunodeficiency, X-Linked
Hypoplasia of the thymus, Decreased circulating total IgM, Reduced natural killer cell activity, ... OMIM:300400
Immunodeficiency, Common Variable, 4
Decreased circulating total IgM, Recurrent sinusitis, Complete or near-complete absence of specif... OMIM:613494
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Hypoplasia of the thymus, Decreased proportion of CD4-positive helper T cells, Decreased proporti... OMIM:617241
Immunodeficiency 48
Panhypogammaglobulinemia, Failure to thrive, Absence of CD8-positive T cells, Recurrent candida i... OMIM:269840
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Abnormal platelet function, Thrombocytopenia, Abnormal hemoglobin, Splenomegaly ORPHA:231393
Immunodeficiency 32B
Abnormal circulating IgG level, Anemia, Monocytopenia, Neutrophilia, Eosinophilia, Impaired oxida... OMIM:226990
Platelet Aggregation, Spontaneous
Spontaneous platelet aggregation, Abnormal platelet function OMIM:173400
Adult Idiopathic Neutropenia
Monocytopenia, Lymphopenia, Abnormal neutrophil count, Increased circulating IgM level, Monocytos... ORPHA:2688
Immunodeficiency, Common Variable, 3
Chronic decreased circulating total IgG, Decreased circulating total IgM, Reduced isohemagglutini... OMIM:613493
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant
Macrothrombocytopenia, Impaired platelet aggregation OMIM:613112
Immunodeficiency 15A
Decreased proportion of CD8-positive T cells, Recurrent sinusitis, Recurrent otitis media, Chroni... OMIM:618204
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
T lymphocytopenia, Decreased lymphocyte proliferation in response to mitogen, Increased circulati... ORPHA:169154
Glanzmann Thrombasthenia 1
Decreased platelet glycoprotein IIb-IIIa, Impaired ADP-induced platelet aggregation, Impaired epi... OMIM:273800
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Hypersplenism, Pancytopenia, Cutaneous anergy, Decreased helper T cell proportion, Splenomegaly OMIM:183350
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia
Macrothrombocytopenia, Thrombocytopenia, Impaired platelet aggregation OMIM:124900
Immunodeficiency 25
Complete or near-complete absence of specific antibody response to tetanus vaccine, T lymphocytop... OMIM:610163
Agammaglobulinemia 7, Autosomal Recessive
Reduced natural killer cell count, Panhypogammaglobulinemia, Neutropenia, Erythema nodosum, Agamm... OMIM:615214
Immunodeficiency 97 With Autoinflammation
Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Hepatosplenomegaly, Eosinophilia,... OMIM:619802
B-Cell Expansion With Nfkb And T-Cell Anergy
Increased B cell count, Decreased specific antibody response to polysaccharide vaccine, Decreased... OMIM:616452
Platelet Responsiveness To Adrenaline, Depressed
Impaired epinephrine-induced platelet aggregation OMIM:173580
Neutropenia, Severe Congenital, 7, Autosomal Recessive
Neutropenia, Recurrent infections OMIM:617014
Autoimmune Lymphoproliferative Syndrome, Type Iia
Chronic noninfectious lymphadenopathy, Increased B cell count, Splenomegaly, Elevated proportion ... OMIM:603909
Ataxia-Pancytopenia Syndrome
Acute myelomonocytic leukemia, Abnormal macrophage morphology, Decreased circulating antibody lev... ORPHA:2585
Bleeding Disorder, Platelet-Type, 21
Impaired ADP-induced platelet aggregation, Impaired platelet aggregation, Recurrent viral infecti... OMIM:617443
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Lymphadenitis, Abnormal natural killer cell count, Decreased circulating total IgM, Decreased lym... ORPHA:331206
Immunodeficiency With Hyper-Igm, Type 5
Impaired Ig class switch recombination, Recurrent upper and lower respiratory tract infections, R... OMIM:608106
Bleeding Disorder, Platelet-Type, 16
Anemia, Impaired platelet aggregation, Thrombocytopenia, Giant platelets, Platelet anisocytosis, ... OMIM:187800
Eosinophilia, Familial
Anemia, Thrombocytopenia, Leukocytosis, Eosinophilia OMIM:131400
Glycoprotein Storage Disease
Gout, Splenomegaly OMIM:232900
Combined Immunodeficiency, X-Linked
Recurrent bronchitis, Decreased proportion of CD8-positive T cells, Decreased proportion of CD4-p... OMIM:312863
Neutropenia-Monocytopenia-Deafness Syndrome
Abnormality of neutrophils, Abnormal macrophage morphology ORPHA:2690
Bleeding Disorder, Platelet-Type, 22
Impaired platelet aggregation OMIM:618462
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Leukopenia, Acute myeloid leukemia, Bone marrow hypocellularity, Refractory anemia, Monocytosis OMIM:616871
Immunodeficiency 11B With Atopic Dermatitis
Increased circulating IgE level, Decreased circulating total IgM, Eosinophilia OMIM:617638
Immunodeficiency 88
Eosinophilia OMIM:619630
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, Neutropenia, B lymphocytopenia OMIM:613107
Monocyte Chemotactic Disorder
Cutaneous anergy, Chronic mucocutaneous candidiasis OMIM:252250
Bleeding Disorder, Platelet-Type, 11
Prolonged bleeding time, Impaired ristocetin-induced platelet aggregation, Abnormal platelet coun... OMIM:614201
Whim Syndrome 2
Chronic neutropenia, Recurrent gingivitis, Severe infection OMIM:619407
Immunoerythromyeloid Hypoplasia
Erythroid hypoplasia, Decreased circulating IgG level OMIM:242880
Glanzmann Thrombasthenia
Impaired collagen-related peptide-induced platelet aggregation, Impaired arachidonic acid-induced... ORPHA:849
Bleeding Disorder, Platelet-Type, 18
Prolonged bleeding time, Impaired ADP-induced platelet aggregation, Impaired epinephrine-induced ... OMIM:615888
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Decreased lymphocyte proliferation in response to mitogen, Increased circulating antibody level, ... ORPHA:169160
Whim Syndrome 1
Decreased circulating antibody level, Recurrent bacterial infections, Recurrent upper respiratory... OMIM:193670
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Neutropenia, Decreased circulating total IgM OMIM:610798
X-Linked Severe Congenital Neutropenia
Recurrent bacterial infections, Neutropenia, Monocytopenia ORPHA:86788
Immunodeficiency 34
Recurrent mycobacterial infections, BCGosis, Pulmonary tuberculosis OMIM:300645
Neutropenia, Lethal Congenital, With Eosinophilia
Neutropenia, Eosinophilia OMIM:257100
Ichthyosis-Prematurity Syndrome
Eosinophilia ORPHA:88621
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Impaired ADP-induced platelet aggregation, Impaired epinephrine-induced platelet aggregation, Leu... OMIM:155100
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Panhypogammaglobulinemia, B lymphocytopenia, Generalized lymphadenopathy, Lymphopenia, Abnormally... OMIM:602450
Immunodeficiency 67
Liver abscess, Recurrent staphylococcal infections, Recurrent streptococcal infections, Increased... OMIM:607676
Agammaglobulinemia 6, Autosomal Recessive
Abnormal T cell morphology, Decreased circulating total IgM, B lymphocytopenia, Recurrent bronchi... OMIM:612692
Agammaglobulinemia 10, Autosomal Dominant
Decreased circulating total IgM, Recurrent sinusitis, Absent circulating B cells, Decreased circu... OMIM:619707
Diamond-Blackfan Anemia 18
Erythroid hypoplasia, Neutropenia, Steroid-responsive anemia OMIM:618310
Mannose-Binding Lectin Deficiency
Recurrent meningococcal disease, Recurrent Klebsiella infections, Recurrent herpes, Disseminated ... OMIM:614372
Griscelli Syndrome, Type 2
Reduced delayed hypersensitivity, Recurrent bacterial infections, Hemophagocytosis, Hepatosplenom... OMIM:607624
Myeloproliferative Disorder, Chronic, With Eosinophilia
Eosinophilia, Myeloproliferative disorder OMIM:131440
Immunodeficiency 61
Decreased circulating total IgM, Recurrent respiratory infections, Decreased circulating IgG2 lev... OMIM:300310
Complement Component 7 Deficiency
Recurrent meningococcal disease, Recurrent Neisserial infections OMIM:610102
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4
Agammaglobulinemia, Decreased circulating antibody level OMIM:616911
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Lymphopenia, Eosinophilia ORPHA:2582
Acute Myelomonocytic Leukemia
Leukocytosis, Anemia, Thrombocytopenia, Eosinophilia ORPHA:517
Congenital Disorder Of Glycosylation, Type Iic
Reduction of neutrophil motility, Bronchiolitis, Neutrophilia, Recurrent otitis media OMIM:266265
Von Willebrand Disease
Abnormality of thrombocytes, Abnormal platelet function, Abnormal mitral valve morphology ORPHA:903
Transcobalamin Deficiency
Decreased circulating total IgM, Decreased circulating antibody level, Lymphopenia, Pancytopenia,... ORPHA:859
O'Sullivan-Mcleod Syndrome
Increased circulating antibody level, Eosinophilia ORPHA:99965
Hyper-Ige Recurrent Infection Syndrome 4B, Autosomal Recessive
Increased circulating IgE level, Eosinophilia OMIM:618523
Caspase 8 Deficiency
Decreased CD4:CD8 ratio, Decreased T cell activation, Decreased circulating total IgM, Complete o... OMIM:607271
Combined Cellular And Humoral Immune Defects With Granulomas
T lymphocytopenia, B lymphocytopenia, Decreased circulating IgG level OMIM:233650
Immunodeficiency With Hyper-Igm, Type 4
Autoimmune thrombocytopenia, Impaired Ig class switch recombination, Autoimmune hemolytic anemia,... OMIM:608184
Generalized Eruptive Histiocytosis
Hypereosinophilia, Lymphadenopathy, Histiocytosis, Leukemia ORPHA:157991
Hypereosinophilic Syndrome, Idiopathic
Splenomegaly, Eosinophilia, Myeloproliferative disorder OMIM:607685
Lymphoma, Hodgkin, Classic
Impaired lymphocyte transformation with phytohemagglutinin, Polyclonal elevation of IgM OMIM:236000
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased CD4:CD8 ratio, Decreased T cell activation, Decreased proportion of CD4-positive T cell... OMIM:300853
Neutropenia, Severe Congenital, X-Linked
Recurrent bacterial infections, Decreased CD4:CD8 ratio, Monocytopenia, Neutropenia OMIM:300299
Platelet Disorder, Undefined
Prolonged bleeding time, Thrombocytopenia, Impaired platelet aggregation OMIM:173420
Immunodeficiency, Common Variable, 13
B lymphocytopenia, Decreased circulating antibody level, Acute lymphoblastic leukemia, Pancytopen... OMIM:616873
Nevoid Hypermelanosis, Linear And Whorled
Eosinophilia OMIM:614323
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
T lymphocytopenia, Increased proportion of transitional B cells, Decreased circulating IgG2 level... OMIM:615513
Immunodeficiency 51
Recurrent cutaneous fungal infections, Chronic oral candidiasis, Recurrent Staphylococcus aureus ... OMIM:613953
Cd8 Deficiency, Familial
Recurrent bacterial infections, Absence of CD8-positive T cells, Recurrent viral infections, Recu... OMIM:608957
Immunodeficiency, Common Variable, 1
Decreased circulating total IgM, B lymphocytopenia, Neutropenia in presence of anti-neutropil ant... OMIM:607594
Liddle Syndrome 3
Hypokalemia OMIM:618126
Immunodeficiency 46
Conjunctivitis, Anemia, Chronic oral candidiasis, Decreased circulating antibody level, Neutropen... OMIM:616740
Osteoarthritis Susceptibility 3
Osteoarthritis of the first carpometacarpal joint, Osteoarthritis of the distal interphalangeal j... OMIM:607850
Immunodeficiency 105
Increased B cell count, Reduced natural killer cell count, Decreased circulating total IgM, T lym... OMIM:619924
Candidiasis, Familial, 1
Cutaneous anergy, Recurrent viral infections, Chronic mucocutaneous candidiasis OMIM:114580
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant
Increased circulating IgE level, Cutaneous abscess, Eosinophilia OMIM:147060
Cernunnos-Xlf Deficiency
Anemia, T lymphocytopenia, B lymphocytopenia, Decreased circulating antibody level, Lymphopenia, ... ORPHA:169079
Roifman Syndrome
Decreased T cell activation, Decreased circulating antibody level, Hepatosplenomegaly, Lymphadeno... ORPHA:353298
Immunodeficiency 33
Decreased circulating total IgM, Pneumocystis jirovecii pneumonia, Recurrent bacterial infections... OMIM:300636
Histiocytosis, Familial Lipochrome
Increased circulating antibody level, Histiocytosis OMIM:235900
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive
Reduced natural killer cell count, Decreased circulating total IgM, Increased circulating IgE lev... OMIM:243700
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Leukopenia, Anemia, Increased circulating antibody level, Extramedullary hematopoiesis, Thrombocy... OMIM:615285
Peeling Skin Syndrome 1
Increased circulating IgE level, Eosinophilia OMIM:270300
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Lack of T cell function, B lymphocytopenia, T lymphocytopenia, Lymphopenia, Absent tonsils, Absen... ORPHA:277
Immunodeficiency 84
Persistent EBV viremia, Perianal abscess, B lymphocytopenia, Recurrent bacterial infections, Sple... OMIM:619437
Immunodeficiency 30
Recurrent mycobacterial infections, Recurrent infections OMIM:614891
Necrobiosis Lipoidica
Granuloma, Diabetes mellitus, Abnormality of the thyroid gland, Abnormality of neutrophil physiology ORPHA:542592
Moyamoya Disease With Early-Onset Achalasia
Thrombocytopenia, Abnormal platelet aggregation ORPHA:401945
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Recurrent bacterial skin infections, Recurrent Serratia marcescens infections, Recurrent Staphylo... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Recurrent bacterial skin infections, Recurrent Serratia marcescens infections, Recurrent Staphylo... OMIM:233710
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased circulating total IgM, Decreased proportion of CD8-positive T cells, Abnormality of the... OMIM:611926
Macrosomia Adiposa Congenita
Eosinophilia, Adrenocortical adenoma OMIM:248100
Persistent Polyclonal B-Cell Lymphocytosis
Lymphocytosis, Splenomegaly, Decreased circulating total IgM OMIM:606445
Immunodeficiency 89 And Autoimmunity
Reduced circulating interleukin 22 concentration, Reduced circulating interleukin 17A concentrati... OMIM:619632
Cyclic Neutropenia
Cyclic neutropenia OMIM:162800
Hyperaldosteronism, Familial, Type Ii
Hypokalemia OMIM:605635
Immunodeficiency, Common Variable, 7
Chronic (near) absent circulating IgG4, Reduced isohemagglutinin level, Decreased circulating tot... OMIM:614699
Immunodeficiency, Common Variable, 14
Decreased circulating total IgM, Defective B cell differentiation, Decreased circulating IgA leve... OMIM:617765
Hypokalemic Periodic Paralysis, Type 2
Hypokalemia OMIM:613345
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Impaired lymphocyte transformation with phytohemagglutinin, Monoclonal immunoglobulin M proteinem... OMIM:153600
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Hypothyroidism, Anemia, Coombs-positive hemolytic anemia, Type I diabetes mellitus, Autoimmune th... OMIM:304790
Juvenile Temporal Arteritis
Leukocytosis, Eosinophilia ORPHA:26137
Chondrocalcinosis 2
Polyarticular chondrocalcinosis, Osteoarthritis, Arthropathy OMIM:118600
Neutrophilia, Hereditary
Neutrophilia, Splenomegaly OMIM:162830
Platelet Disorder, Familial, With Associated Myeloid Malignancy
Acute myeloid leukemia, Abnormal alpha granule content, Impaired platelet aggregation, Abnormal d... OMIM:601399
Bare Lymphocyte Syndrome, Type Ii
Panhypogammaglobulinemia, Neutropenia, Infectious encephalitis, Recurrent urinary tract infection... OMIM:209920
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Recurrent bacterial skin infections, Recurrent Serratia marcescens infections, Recurrent Staphylo... OMIM:233690
Complement Component 8 Deficiency, Type Ii
Meningitis, Recurrent Neisserial infections OMIM:613789
Complement Factor D Deficiency
Recurrent bacterial infections OMIM:613912
Neutropenia, Severe Congenital, 3, Autosomal Recessive
Recurrent bacterial infections, Neutropenia, Acute lymphoblastic leukemia OMIM:610738
Bleeding Disorder, Platelet-Type, 13, Susceptibility To
Impaired thromboxane A2 agonist-induced platelet aggregation OMIM:614009
Combined Immunodeficiency Due To Zap70 Deficiency
Recurrent mycobacterial infections, Recurrent opportunistic infections, Recurrent bacterial skin ... ORPHA:911
Reticular Dysgenesis
Leukopenia, Anemia, Decreased circulating antibody level, Skin rash, Skin ulcer, Abnormality of n... ORPHA:33355
Complement Component C1R/C1S Deficiency
Discoid lupus rash, Arthritis, Autoimmunity, Nephritis OMIM:216950
Immunodeficiency 64 With Lymphoproliferation
Decreased lymphocyte proliferation in response to mitogen, Defective T cell proliferation, Decrea... OMIM:618534
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Reduced natural killer cell count, Hypoplasia of the thymus, T lymphocytopenia, B lymphocytopenia... OMIM:619313
Bleeding Disorder, Platelet-Type, 8
Impaired ADP-induced platelet aggregation OMIM:609821
Immunoglobulin A Deficiency 2
Decreased circulating IgA level, Abnormal lymphocyte morphology OMIM:609529
Lymphoproliferative Syndrome, X-Linked, 1
Infectious encephalitis, Reduced natural killer cell activity, Decreased circulating antibody lev... OMIM:308240
Immunodeficiency, Common Variable, 2
Recurrent bronchitis, Recurrent sinusitis, Recurrent otitis media, Recurrent pneumonia, Recurrent... OMIM:240500
Agammaglobulinemia 8A, Autosomal Dominant
B lymphocytopenia, Post-vaccination polio, Recurrent otitis media, Recurrent infections, Agammagl... OMIM:616941
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Bronchiectasis, Neutropenia in presence of anti-neutropil antibodies, Increased circulating IgG l... OMIM:619220
Immunodeficiency 102
Bronchiectasis, Recurrent sinusitis, Decreased proportion of CD4-positive helper T cells, Recurre... OMIM:301082
Thomsen And Becker Disease
Myotonia ORPHA:614
Immunodeficiency 62
Complete or near-complete absence of specific antibody response to tetanus vaccine, Decreased cir... OMIM:618459
Hereditary Folate Malabsorption
Megaloblastic anemia, Decreased circulating antibody level, Pancytopenia, Eosinophilia, Thrombocy... ORPHA:90045
Hemophagocytic Lymphohistiocytosis, Familial, 3
Anemia, Reduced natural killer cell activity, Hepatosplenomegaly, Hemophagocytosis, Granulocytopenia OMIM:608898
Trimethylaminuria
Recurrent pneumonia, Anemia, Neutropenia, Splenomegaly OMIM:602079
Agammaglobulinemia 5, Autosomal Dominant
Agammaglobulinemia OMIM:613506
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Recurrent aphthous stomatitis, Pyoderma gangrenosum, Chronic oral candidiasis, B lymphocytopenia,... OMIM:150550
Complement Component 6 Deficiency
Recurrent meningococcal disease OMIM:612446
Halothane Hepatitis
Eosinophilia OMIM:234350
Immunodeficiency By Defective Expression Of Mhc Class Ii
T lymphocytopenia, Recurrent Staphylococcus aureus infections, Decreased proportion of CD4-positi... ORPHA:572
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Elliptocytosis, Impaired platelet aggregation, Poikilocytosis, Anisocytosis, Bone marrow hypocell... OMIM:300835
Acquired Idiopathic Sideroblastic Anemia
Acute myeloid leukemia, Neutropenia, Megaloblastic erythroid hyperplasia, Normocytic anemia, Eryt... ORPHA:75564
Immunodeficiency 52
Persistent EBV viremia, Increased proportion of gamma-delta T cells, Decreased circulating antibo... OMIM:617514
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Decreased circulating total IgM, B lymphocytopenia, Decreased circulating IgG2 level, Absent spec... OMIM:102700
Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive
Sterile abscess, Cutaneous abscess, Decreased circulating IgA level, Eosinophilia, Increased circ... OMIM:618282
Myotonia Congenita, Autosomal Dominant
Myotonia, Handgrip myotonia, Percussion myotonia, Myotonia with warm-up phenomenon, EMG: myotonic... OMIM:160800
Autoinflammatory Disease, Systemic, X-Linked
Osteomyelitis, Decreased circulating total IgM, B lymphocytopenia, Decreased circulating antibody... OMIM:301081
Osteoarthritis Susceptibility 2
Osteoarthritis, Heberden's node OMIM:140600
Rippling Muscle Disease 1
Percussion-induced rapid rolling muscle contractions, Muscle mounding OMIM:600332
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Crohn's disease, Decreased circulating total IgM, Neutropenia, B lymphocytopenia, Bronchiectasis,... OMIM:619705
Familial Hemophagocytic Lymphohistiocytosis
Anemia, Maculopapular exanthema, Infectious encephalitis, Increased circulating interleukin 6 con... ORPHA:540
Immunodeficiency 44
Abnormal circulating IgG level, Decreased circulating IgA level, Decreased circulating total IgM,... OMIM:616636
Felty Syndrome
Neutropenia, Splenomegaly, Rheumatoid arthritis OMIM:134750
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Neutropenia ORPHA:90023
Chondrocalcinosis 1
Chondrocalcinosis, Osteoarthritis OMIM:600668
Pgm3-Cdg
Leukopenia, Reduced natural killer cell count, Decreased proportion of CD4-positive helper T cell... ORPHA:443811
Chilblain Lupus
Malar rash, Chronic myelomonocytic leukemia, Inflammatory abnormality of the skin, Increased circ... ORPHA:90280
Combined Immunodeficiency Due To Dock8 Deficiency
Recurrent bacterial skin infections, Atopic dermatitis, T lymphocytopenia, B lymphocytopenia, Ski... ORPHA:217390
Hermansky-Pudlak Syndrome 9
Leukopenia, Thrombocytopenia, Abnormal platelet aggregation OMIM:614171
Igg4-Related Aortitis
Increased circulating antibody level, Increased circulating IgG4 level, Increased circulating IgE... ORPHA:449400
Autosomal Dominant Severe Congenital Neutropenia
Acute myeloid leukemia, Acute lymphoblastic leukemia, Lymphopenia, Eosinophilia, Monocytosis, Apl... ORPHA:486
Autoinflammation With Arthritis And Dyskeratosis
Hypereosinophilia, Thyroiditis, Autoimmune hemolytic anemia, Increased circulating IgA level, Inc... OMIM:617388
Idiopathic Chronic Eosinophilic Pneumonia
Hypereosinophilia, Increased circulating IgE level, Leukocytosis ORPHA:2902
Hermansky-Pudlak Syndrome 3
Impaired platelet aggregation, Abnormal number of dense granules OMIM:614072
Gray Platelet Syndrome
Abnormal number of alpha granules, Impaired collagen-induced platelet aggregation, Prolonged blee... OMIM:139090
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Abnormally low T cell receptor excision circle level, Decreased circulating total IgM, B lymphocy... OMIM:618987
Agammaglobulinemia 1, Autosomal Recessive
Panhypogammaglobulinemia, Neutropenia, B lymphocytopenia, Decreased circulating antibody level, R... OMIM:601495
Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant
Reduced natural killer cell count, Decreased circulating total IgM, Bronchiectasis, Cutaneous abs... OMIM:619752
Benign Cephalic Histiocytosis
Skin rash, Histiocytosis, Inflammatory abnormality of the skin ORPHA:157997
Intellectual Developmental Disorder With Speech Delay, Dysmorphic Facies, And T-Cell Abnormalities
Abnormally low T cell receptor excision circle level, Eosinophilia OMIM:618092
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Cholelithiasis, Spontaneous hemolytic crises, Impaired neutrophil bactericidal activity, Nonspher... OMIM:613470
Netherton Syndrome
Hypereosinophilia, Increased circulating IgE level, Decreased circulating IgG level OMIM:256500
Immunodeficiency 12
Recurrent bacterial infections, Recurrent viral infections OMIM:615468
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Recurrent opportunistic infections, Reduced natural killer cell count, Recurrent bacterial skin i... ORPHA:276
Mast Cell Sarcoma
Mastocytosis, Lymphadenopathy, Splenomegaly, Mediastinal lymphadenopathy ORPHA:66661
Talo-Patello-Scaphoid Osteolysis
Osteolysis of talus, Synovitis, Osteolysis of patellae, Osteolysis of scaphoids, Enlarged joints ORPHA:50809
Selective Igm Deficiency
Recurrent vulvovaginal candidiasis, Recurrent sinusitis, Decreased proportion of CD4-positive T c... ORPHA:331235
Eosinophilopenia
Decreased eosinophil count OMIM:131430
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
T lymphocytopenia ORPHA:169095
Indolent Systemic Mastocytosis
Mastocytosis, Lymphadenopathy, Increased proportion of CD25+ mast cells, Abnormal mast cell morph... ORPHA:98848
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Recurrent mycobacterial infections, Recurrent opportunistic infections, Chronic oral candidiasis,... ORPHA:275
Mastocytosis, Cutaneous
Telangiectasia macularis eruptiva perstans, Cutaneous mastocytosis OMIM:154800
Iga Pemphigus
Cutaneous abscess, Monoclonal elevation of circulating IgA, Increased circulating IgA level, Eosi... ORPHA:555905
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Abnormal circulating IgG level, Complete or near-complete absence of specific antibody response t... ORPHA:70593
Bernard-Soulier Syndrome
Thrombocytopenia, Giant platelets, Prolonged bleeding time, Macrothrombocytopenia, Impaired risto... OMIM:231200
Lymphoproliferative Syndrome 3
Reduced natural killer cell count, Decreased circulating antibody level, Hepatosplenomegaly, Lymp... OMIM:618261
Immunodeficiency 7
Hypereosinophilia, Autoimmune hemolytic anemia, Lymphadenopathy, Neutropenia, Splenomegaly OMIM:615387
Neutrophil Actin Dysfunction
Recurrent bacterial infections OMIM:257150
Immunodeficiency 28
Recurrent mycobacterial infections OMIM:614889
Immunodeficiency 107, Susceptibility To Invasive Staphylococcus Aureus Infection
Chronic furunculosis, Pyoderma gangrenosum, Cutaneous abscess OMIM:619986
Immunodeficiency 17
Chronic decreased cirulating IgG2, Chronic oral candidiasis, T lymphocytopenia, Abnormal B cell m... OMIM:615607
Immunodeficiency 36 With Lymphoproliferation
Persistent EBV viremia, Chronic lymphatic leukemia, Increased proportion of transitional B cells,... OMIM:616005
Autoimmune Lymphoproliferative Syndrome
Coombs-positive hemolytic anemia, Reticulocytosis, Bone marrow hypocellularity, Eosinophilia, Dec... ORPHA:3261
Cinca Syndrome
Anemia, Hepatosplenomegaly, Lymphadenopathy, Leukocytosis, Eosinophilia OMIM:607115
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive
Decreased circulating total IgM, Increased circulating interleukin 6 concentration, Cutaneous abs... OMIM:618944
Immunodeficiency, Common Variable, 12, With Autoimmunity
Atrophic gastritis, Pyoderma gangrenosum, Bronchiectasis, Decreased circulating antibody level, R... OMIM:616576
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Acute myeloid leukemia, Anemia, Pancytopenia, Bone marrow hypocellularity, Increased mean corpusc... OMIM:619041
Systemic Mastocytosis With Associated Hematologic Neoplasm
Acute myeloid leukemia, Myeloid leukemia, Increased basophil count, Chronic lymphatic leukemia, C... ORPHA:98849
Pulmonary Blastoma
Recurrent pneumonia, Weight loss ORPHA:64741
Immunodeficiency 21
Reduced natural killer cell count, Anemia, Myeloid leukemia, Monocytopenia, B lymphocytopenia, Ly... OMIM:614172
Immunodeficiency 91 And Hyperinflammation
Neutrophilia, Hepatosplenomegaly, Lymphadenopathy, Hemophagocytosis, Monocytosis, Thrombocytopenia OMIM:619644
T-Cell Immunodeficiency With Thymic Aplasia
T lymphocytopenia, Abnormally low T cell receptor excision circle level, Hepatosplenomegaly, Lymp... OMIM:242700
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Lymphadenitis, Perianal abscess, Hemolytic anemia, Granuloma, Lymphopenia, Hepatosplenomegaly, Ly... OMIM:618935
Von Willebrand Disease, Type 3
Prolonged bleeding time, Thrombocytopenia, Impaired platelet aggregation OMIM:277480
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Increased circulating antibody level, Autoimmune hemolytic anemia, Plasmacytosis, Lymphopenia OMIM:247800
Macrophage Activation Syndrome
Abnormal natural killer cell count, Anemia, Increased circulating interleukin 6 concentration, Ab... ORPHA:158061
Immunodeficiency, Common Variable, 6
Chronic decreased circulating total IgG, Complete or near-complete absence of specific antibody r... OMIM:613496
Congenital Atransferrinemia
Arthritis, Anemia ORPHA:1195
Microcephalic Primordial Dwarfism, Toriello Type
Neutropenia, Decreased circulating total IgM, Decreased circulating IgG level ORPHA:2643
Immunodeficiency 23
Hemolytic anemia, Lymphopenia, Increased circulating IgE level, Increased circulating IgM level, ... OMIM:615816
Talo-Patello-Scaphoid Osteolysis, Synovitis, And Short Fourth Metacarpals
Osteolysis of talus, Osteolysis of scaphoids, Synovitis, Osteolysis of patellae OMIM:609655
Sweet Syndrome
Acute myeloid leukemia, Skin vesicle, Sterile abscess, Pyoderma gangrenosum, Increased circulatin... ORPHA:3243
Hermansky-Pudlak Syndrome 2
Reduced natural killer cell count, Decreased CD4:CD8 ratio, Enlarged platelet dense granules, Red... OMIM:608233
Shwachman-Diamond Syndrome
Pancreatic hypoplasia, Acute myeloid leukemia, Chronic neutropenia, Leukopenia, Anemia, Neutropen... ORPHA:811
Bleeding Disorder, Platelet-Type, 17
Impaired epinephrine-induced platelet aggregation, Macrothrombocytopenia, Increased RBC distribut... OMIM:187900
Immunodeficiency 98 With Autoinflammation, X-Linked
Recurrent aphthous stomatitis, Chronic oral candidiasis, B lymphocytopenia, Recurrent otitis medi... OMIM:301078
Barth Syndrome
Dilated cardiomyopathy, Abnormality of neutrophils ORPHA:111
Leishmaniasis
Leukopenia, Anemia, Rhinitis, Abnormal macrophage morphology, Increased circulating antibody leve... ORPHA:507
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Lymphopenia, Eosinophilia, Decreased circulating antibody level OMIM:617425
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Decreased proportion of CD4+CD25+ regulatory T cells, Decreased circulating antibody level, Absen... OMIM:619846
Aregenerative Anemia
Reticulocytopenia, Abnormal proportion of CD8-positive T cells, Erythroid hypoplasia, Pallor, Pan... ORPHA:101096
Hyperchlorhidrosis, Isolated
Hyperkalemia, Hyponatremia OMIM:143860
Hemophagocytic Lymphohistiocytosis, Familial, 4
Conjunctivitis, Anemia, Skin rash, Hemophagocytosis, Thrombocytopenia, Neutropenia, Splenomegaly OMIM:603552
X-Linked Agammaglobulinemia
Conjunctivitis, Anemia, Osteomyelitis, Neutropenia, Hepatitis, Skin rash, Arthritis, Skin ulcer, ... ORPHA:47
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Panhypogammaglobulinemia, T lymphocytopenia, Abnormality of B cell physiology, Lymphopenia, Absen... OMIM:600802
Say-Barber-Miller Syndrome
Abnormal T cell morphology, Decreased circulating IgG level, Hypogonadism, Decreased circulating ... ORPHA:3132
Developmental Dysplasia Of The Hip 2
Arthritis, Hip osteoarthritis OMIM:615612
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Stomatocytosis, Splenomegaly, Impaired collagen-related peptide-induced platelet aggregation, Hem... OMIM:153670
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Hypoplasia of the thymus, Decreased circulating antibody level, Lymphopenia, Impaired lymphocyte ... OMIM:243150
Immunodeficiency With Hyper-Igm, Type 1
Meningitis, Thrombocytopenia, Impaired memory B cell generation, Splenomegaly, Sepsis, Decreased ... OMIM:308230
Refractory Anemia
Neutropenia, Normocytic anemia, Erythroid hypoplasia, Bone marrow hypocellularity, Macrocytic ane... ORPHA:98826
Quebec Platelet Disorder
Thrombocytopenia, Impaired epinephrine-induced platelet aggregation OMIM:601709
Ficolin 3 Deficiency
Recurrent lower respiratory tract infections, Recurrent abscess formation, Recurrent Staphylococc... OMIM:613860
Immunodeficiency 31A
Recurrent mycobacterium avium complex infections, Herpes simplex encephalitis, BCGitis, Recurrent... OMIM:614892
Proximal Myotonic Myopathy
Myotonia ORPHA:606
Immunodeficiency 38 With Basal Ganglia Calcification
Recurrent mycobacterial infections OMIM:616126
Omenn Syndrome
Anemia, Hypoplasia of the thymus, B lymphocytopenia, Severe B lymphocytopenia, Lymphadenopathy, E... OMIM:603554
Pyoderma Gangrenosum
Skin vesicle, Myeloid leukemia, Rheumatoid arthritis, Increased circulating antibody level, Skin ... ORPHA:48104
Eosinophilic Fasciitis
Abnormal eosinophil morphology, Eosinophilia ORPHA:3165
Granulomatous Disease, Chronic, X-Linked
Recurrent bacterial skin infections, Recurrent Serratia marcescens infections, Recurrent Staphylo... OMIM:306400
Angiostrongyliasis
Hypereosinophilia, Increased circulating specific IgE antibody, Increased circulating IgA level, ... ORPHA:74
Paramyotonia Congenita Of Von Eulenburg
Myotonia of the face, Myotonia, Myotonia of the upper limb, Cold-sensitive myotonia, Percussion m... ORPHA:684
Osteoarthritis Susceptibility 1
Hip osteoarthritis OMIM:165720
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1
Eosinophilia OMIM:253600
Angel-Shaped Phalangoepiphyseal Dysplasia
Premature osteoarthritis, Delayed ossification of carpal bones, Hyperextensibility of the finger ... OMIM:105835
Wells Syndrome
Eosinophilia ORPHA:901
Esophagitis, Eosinophilic, 2
Eosinophilia OMIM:613412
Esophagitis, Eosinophilic, 1
Eosinophilia OMIM:610247
Wiskott-Aldrich Syndrome
Decreased mean platelet volume, Decreased circulating total IgM, Reduced natural killer cell acti... OMIM:301000
Immunodeficiency 49
T lymphocytopenia, Decreased proportion of naive CD4 T cells, Lymphopenia, Abnormally low T cell ... OMIM:617237
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults
Acute myeloid leukemia, Neutropenia OMIM:607847
Brachydactylous Dwarfism, Mseleni Type
Protrusio acetabuli, Hip osteoarthritis, Autoimmunity, Abnormality of the wrist, Limitation of jo... ORPHA:2619
Asthma, Short Stature, And Elevated Iga
Increased circulating IgA level OMIM:208600
Autosomal Agammaglobulinemia
Conjunctivitis, Osteomyelitis, Neutropenia, Bronchiectasis, Hepatitis, Skin rash, Arthritis, Sinu... ORPHA:33110
Fanconi Anemia, Complementation Group G
Anemia, Thrombocytopenia, Neutropenia, Leukemia OMIM:614082
Myeloma, Multiple
Paraproteinemia OMIM:254500
Omenn Syndrome
Hypothyroidism, Anemia, Thyroiditis, Lymphadenopathy, Leukocytosis, Eosinophilia, Splenomegaly, A... ORPHA:39041
Agammaglobulinemia 8B, Autosomal Recessive
Anemia, Decreased circulating total IgM, B lymphocytopenia, Decreased proportion of CD8-positive,... OMIM:619824
Pontocerebellar Hypoplasia, Type 15
Simplified gyral pattern, Chronic neutropenia, Thrombocytopenia, Anemia OMIM:619302
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Panhypogammaglobulinemia, T lymphocytopenia, B lymphocytopenia OMIM:601457
Immunodeficiency 31B
Recurrent mycobacterial infections, Recurrent viral infections, Herpes simplex encephalitis OMIM:613796
Agammaglobulinemia 9, Autosomal Recessive
Recurrent bacterial infections, Thrombocytopenia, Agammaglobulinemia, Absent circulating B cells OMIM:619693
Slipped Femoral Capital Epiphyses
Hip osteoarthritis OMIM:182260
Pontocerebellar Hypoplasia, Type 14
Simplified gyral pattern, Chronic neutropenia, Thrombocytopenia OMIM:619301
Aspergillosis
Neutropenia, Increased circulating IgE level, Eosinophilia ORPHA:1163
Sitosterolemia 1
Stomatocytosis, Hypercholesterolemia, Anemia, Reduced haptoglobin level, Reticulocytosis, Impaire... OMIM:210250
Immunodeficiency, Common Variable, 8, With Autoimmunity
Bronchiectasis, Recurrent sinusitis, Colitis, Thrombocytopenia, Pneumonia, Splenomegaly, Decrease... OMIM:614700
Normokalemic Periodic Paralysis
Percussion myotonia OMIM:170600
Hermansky-Pudlak Syndrome 6
Prolonged bleeding time, Impaired ADP-induced platelet aggregation, Recurrent upper respiratory t... OMIM:614075
Eosinophil Peroxidase Deficiency
Eosinophil nuclear hypersegmentation OMIM:261500
Immunodeficiency 19
Abnormal natural killer cell morphology, T lymphocytopenia, Abnormal B cell morphology OMIM:615617
Immunodeficiency 57 With Autoinflammation
Reduced natural killer cell count, T lymphocytopenia, Perianal abscess, Decreased circulating ant... OMIM:618108
Cystic Echinococcosis
Peritoneal abscess, Abnormality of the testis size, Increased circulating antibody level, Splenic... ORPHA:400
Thrombocytopenia 2
Thrombocytopenia, Leukocytosis OMIM:188000
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome
Crohn's disease, Increased circulating antibody level, Arthritis, Skin ulcer, Myositis, Pustule, ... ORPHA:69126
Congenital Disorder Of Glycosylation, Type Iif
Decreased platelet glycoprotein Ib, Macrothrombocytopenia, Recurrent bacterial infections, Thromb... OMIM:603585
Isolated Agammaglobulinemia
Anemia, Skin rash, Inflammatory abnormality of the eye, Skin ulcer, Arthritis, Abnormality of neu... ORPHA:229717
Left Ventricular Noncompaction 7
Left ventricular noncompaction cardiomyopathy, Left ventricular noncompaction OMIM:615092
Cardiomyopathy, Dilated, 1R
Myofiber disarray, Interstitial cardiac fibrosis, Restrictive cardiomyopathy, Left ventricular hy... OMIM:613424
Roifman Syndrome
Lymphadenopathy, Splenomegaly, Eosinophilia OMIM:616651
Glutathione Synthetase Deficiency
Neutropenia, Hemolytic anemia OMIM:266130
Bleeding Disorder, Platelet-Type, 12
Impaired platelet aggregation OMIM:605735
Idiopathic Acute Eosinophilic Pneumonia
Abnormal eosinophil morphology ORPHA:724
Thymic Aplasia
Opportunistic infection, T lymphocytopenia, Invasive fungal infection, Recurrent Staphylococcus a... ORPHA:83471
Leukocyte Adhesion Deficiency
Recurrent fungal infections, Acute myeloid leukemia, Perianal abscess, Chronic oral candidiasis, ... ORPHA:2968
Focal Facial Dermal Dysplasia Type Iv
Abnormal mast cell morphology ORPHA:398189
Thrombocytopenia 5
Anemia, Thrombocytopenia, Neutropenia, Petechiae OMIM:616216
Hemochromatosis, Type 3
Anemia, Arthritis, Purpura, Lymphopenia, Neutropenia OMIM:604250
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Increased B cell count, Herpes simplex encephalitis, Increased proportion of memory T cells, Recu... OMIM:618982
Chediak-Higashi Syndrome
Leukopenia, Anemia, Giant neutrophil granules, Lymphadenopathy, Hemophagocytosis, Impaired neutro... OMIM:214500
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Anemia, Abnormal natural killer cell physiology, Decreased circulating antibody level, Hepatosple... OMIM:613101
Immunodeficiency 70
Decreased circulating total IgM, B lymphocytopenia, Decreased circulating antibody level, Decreas... OMIM:618969
Immunodeficiency 85 And Autoimmunity
Reduced natural killer cell count, Decreased circulating total IgM, T lymphocytopenia, Lymphopeni... OMIM:619510
Ectodermal Dysplasia And Immunodeficiency 1
Abnormal circulating IgG level, Reduced natural killer cell activity, Recurrent bacterial infecti... OMIM:300291
Hermansky-Pudlak Syndrome 7
Prolonged bleeding time, Impaired platelet aggregation OMIM:614076
Ataxia-Telangiectasia
Female hypogonadism, Hypoplasia of the thymus, T lymphocytopenia, Decreased circulating IgG2 leve... OMIM:208900
Von Willebrand Disease, Type 1
Prolonged bleeding time, Aortic valve stenosis, Mitral valve prolapse, Impaired platelet aggregation OMIM:193400
Igg4-Related Submandibular Gland Disease
Increased circulating IgG4 level, Increased circulating antibody level, Enlarged lacrimal glands,... ORPHA:449432
Alpha-Thalassemia-Myelodysplastic Syndrome
Neutropenia, HbH hemoglobin, Thrombocytopenia, Acute leukemia, Splenomegaly, Microcytic anemia ORPHA:231401
Purine Nucleoside Phosphorylase Deficiency
Recurrent opportunistic infections, Recurrent urinary tract infections, Neutropenia in presence o... OMIM:613179
Immunoglobulin A Deficiency 1
Decreased circulating IgA level OMIM:137100
Hermansky-Pudlak Syndrome 5
Prolonged bleeding time, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Absent plat... OMIM:614074
Autoinflammation, Immune Dysregulation, And Eosinophilia
Hypothyroidism, Eosinophilia, Hepatosplenomegaly OMIM:618999
Autosomal Dominant Hyper-Ige Syndrome
Increased circulating IgE level, Eosinophilia ORPHA:2314
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Lack of T cell function, Decreased circulating total IgM, Decreased lymphocyte proliferation in r... ORPHA:35078
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Sterile abscess, Pyoderma gangrenosum, Arthritis, Pancytopenia, Hepatosplenomegaly, Cystic acne, ... OMIM:604416
Liddle Syndrome 2
Decreased circulating renin level, Hypokalemia OMIM:618114
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy
Increased serum prostaglandin E2, Hypokalemia, Abnormal magnesium concentration, Increased circul... OMIM:241150
Specific Granule Deficiency 2
Anemia, Absent neutrophil specific granules, Recurrent otitis media, Recurrent pneumonia, Recurre... OMIM:617475
Anemia, Sideroblastic, 5
Anemia, Reduced hematocrit, Hypochromic microcytic anemia, Thrombocytopenia, Neutropenia OMIM:619523
Ataxia-Pancytopenia Syndrome
Acute myelomonocytic leukemia, Anemia, Pancytopenia, Thrombocytopenia, Neutropenia, Hypoplastic a... OMIM:159550
Folate Malabsorption, Hereditary
Leukopenia, Thrombocytopenia, Neutropenia, Folate-responsive megaloblastic anemia OMIM:229050
Multicentric Reticulohistiocytosis
Arthritis, Histiocytosis ORPHA:139436
Myotonia Congenita, Autosomal Recessive
Myotonia, Myotonia with warm-up phenomenon, Percussion myotonia, EMG: myotonic runs OMIM:255700
Lymphoproliferative Syndrome, X-Linked, 2
Decreased circulating antibody level, Hepatitis, Folliculitis, Erythema nodosum, Pancytopenia, In... OMIM:300635
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Acute myeloid leukemia, Anemia, Reduced natural killer cell count, Acute lymphoblastic leukemia, ... ORPHA:158057
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Anemia, Ulcerative colitis, Leukocytosis OMIM:619398
Eosinophilic Gastroenteritis
Leukocytosis, Anemia, Eosinophilia ORPHA:2070
Hypoparathyroidism, Familial Isolated, 2
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures OMIM:618883
Aggressive Systemic Mastocytosis
Anemia, Hypersplenism, Pancytopenia, Hepatosplenomegaly, Lymphadenopathy, Increased proportion of... ORPHA:98850
Deafness, Neural, With Atypical Atopic Dermatitis
Increased circulating IgE level OMIM:221700
Bone Marrow Failure Syndrome 6
Anemia, Recurrent sinusitis, Lymphopenia, Persistence of hemoglobin F, Bone marrow hypocellularit... OMIM:618849
Proteasome-Associated Autoinflammatory Syndrome 2
Increased CD4:CD8 ratio, B lymphocytopenia, Recurrent viral infections, Recurrent bacterial infec... OMIM:618048
Classic Mycosis Fungoides
Skin rash, Skin ulcer, Eczema, Dry skin, Erythema, Splenomegaly, Abnormal lymphocyte morphology ORPHA:2584
Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome
Wrist flexion contracture, Congenital finger flexion contractures, Synovial hypertrophy, Arthropa... OMIM:208250
Immunodeficiency 42
Hypoplasia of the thymus, Splenomegaly OMIM:616622
Immunodeficiency 96
Decreased circulating total IgM, Increased proportion of gamma-delta T cells, Defective T cell pr... OMIM:619774
X-Linked Lymphoproliferative Disease
T lymphocytopenia, Hepatosplenomegaly, Increased T cell count, Bone marrow hypocellularity, Cervi... ORPHA:2442
Obesity Due To Congenital Leptin Deficiency
Hyperinsulinemia, Decreased T cell activation, Decreased serum estradiol, Absence of secondary se... ORPHA:66628
Myopathy, Granulovacuolar Lobular, With Electrical Myotonia
Myotonia OMIM:254950
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak
Hyperkalemia OMIM:609153
Systemic Lupus Erythematosus
Malar rash, Leukopenia, Antiphospholipid antibody positivity, Hemolytic anemia, Arthritis, Nephri... OMIM:152700
Mu-Heavy Chain Disease
Anemia, Weight loss, Increased circulating antibody level, Abnormal B cell count, Splenomegaly ORPHA:100024
Obesity Due To Leptin Receptor Gene Deficiency
Hyperinsulinemia, Decreased T cell activation, Decreased serum estradiol, Absence of secondary se... ORPHA:179494
Immunodeficiency 27A
Anemia, Hepatosplenomegaly, Increased inflammatory response, Pneumonia, Thrombocytosis, Leukocyto... OMIM:209950
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Leukopenia, Anemia, Hypoplasia of the thymus, Perianal abscess, Erythroid hypoplasia, Hepatosplen... OMIM:612541
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency
Recurrent mycobacterial infections, Coccidioidomycosis, Severe toxoplasmosis, Tegumentary leishma... ORPHA:319552
Alveolar Echinococcosis
Pancreatic cysts, Anemia, Abnormality of adrenal morphology, Increased circulating antibody level... ORPHA:284
Complement Component 3 Deficiency, Autosomal Recessive
Recurrent pneumonia, Recurrent bacterial infections, Recurrent tonsillitis OMIM:613779
Deafness-Lymphedema-Leukemia Syndrome
Weight loss, Acute leukemia, Abnormal neutrophil count, Bone marrow hypocellularity, Leukocytosis... ORPHA:3226
Dracunculiasis
Recurrent cutaneous abscess formation, Skin ulcer, Skin rash, Arthritis ORPHA:231
Cyclic Neutropenia
Perianal abscess, Decreased eosinophil count, Lymphopenia, Lymphadenopathy, Cyclic neutropenia, C... ORPHA:2686
Agammaglobulinemia, X-Linked
Complete or near-complete absence of specific antibody response to Haemophilus influenzae type b ... OMIM:300755
Hypokalemic Periodic Paralysis, Type 1
Hypokalemia OMIM:170400
Mantle Cell Lymphoma
Splenomegaly, Weight loss ORPHA:52416
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Neutrophilia, Lymphadenopathy, Increased circulating IgA level, Leukocytosis, Increased circulati... OMIM:617099
Fanconi Anemia, Complementation Group V
Anemia, Thrombocytopenia, Bone marrow hypocellularity, Neutropenia OMIM:617243
Immunoglobulin Kappa Light Chain Deficiency
Abnormal immunoglobulin level OMIM:614102
Felty Syndrome
Anemia, Rhinitis, Arthritis, Synovitis, Pericarditis, Recurrent pneumonia, Chronic otitis media, ... ORPHA:47612
Immunodeficiency 76
T lymphocytopenia, B lymphocytopenia, Lymphopenia, Lymphadenopathy, Splenomegaly OMIM:619164
Igg4-Related Pachymeningitis
Lymphadenitis, Increased circulating IgG4 level, Parotitis, Eosinophilia ORPHA:449427
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets
Decreased serum thromboxane B2, Impaired platelet aggregation, Iron deficiency anemia, Abnormal c... OMIM:618372
Immunodeficiency 13
Recurrent shingles, Decreased CD4:CD8 ratio, T lymphocytopenia, B lymphocytopenia, Recurrent sinu... OMIM:615518
Paramyotonia Congenita Of Von Eulenburg
Paradoxical myotonia, Handgrip myotonia, Percussion myotonia OMIM:168300
Mgat2-Cdg
Decreased lymphocyte proliferation in response to mitogen, Decreased circulating antibody level, ... ORPHA:79329
Neutrophilic Dermatosis, Acute Febrile
Anemia, Pyoderma gangrenosum, Increased circulating interleukin 6 concentration, Acne inversa, Cy... OMIM:608068
Idiopathic Aplastic Anemia
Anemia, Reticulocytopenia, Pancytopenia, Ecchymosis, Bone marrow hypocellularity, Thrombocytopeni... ORPHA:88
Cutaneous Mastocytosis, Conductive Hearing Loss And Microtia
Cutaneous mastocytosis OMIM:248910
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Decreased CD4:CD8 ratio, Severe varicella zoster infection, Hemolytic anemia, T lymphocytopenia, ... OMIM:606367
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
T lymphocytopenia, Abnormally low T cell receptor excision circle level OMIM:618806
Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome
Episodic hypokalemia, Hypomagnesemia ORPHA:564178
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Hypereosinophilia, Decreased circulating total IgM, Decreased lymphocyte proliferation in respons... ORPHA:508533
Hyperkalemic Periodic Paralysis
Hyperkalemia OMIM:170500
Myeloproliferative Syndrome, Transient
Transient myeloproliferative syndrome, Leukocytosis OMIM:159595
Chédiak-Higashi Syndrome
Recurrent bacterial skin infections, Anemia, Neutropenia, Recurrent respiratory infections, Abnor... ORPHA:167
Transcobalamin Ii Deficiency
Decreased circulating total IgM, Reticulocytopenia, Erythroid hypoplasia, Pancytopenia, Decreased... OMIM:275350
Hypocalcemia, Autosomal Dominant 1
Hyperphosphatemia, Hypokalemia, Increased circulating renin level, Hypocalcemia, Hypomagnesemia OMIM:601198
Bullous Diffuse Cutaneous Mastocytosis
Cutaneous mastocytosis ORPHA:280785
Letterer-Siwe Disease
Anemia, Stomatitis, Hepatosplenomegaly, Pallor, Thrombocytopenia, Neutropenia, Seborrheic dermatitis OMIM:246400
Slc35A1-Cdg
Pneumonia, Abnormal platelet granules, Giant platelets, Thrombocytopenia, Neutropenia ORPHA:238459
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
T lymphocytopenia, Decreased helper T cell proportion OMIM:601705
Spinocerebellar Ataxia, Autosomal Recessive 23
Neutropenia OMIM:616949
Diamond-Blackfan Anemia 8
Increased mean corpuscular volume, Neutropenia, Macrocytic anemia OMIM:612563
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Decreased CD4:CD8 ratio, Recurrent urinary tract infections, Recurrent otitis media, Autoimmune h... OMIM:618495
Hermansky-Pudlak Syndrome 11
Impaired collagen-induced platelet aggregation, Reduced platelet dense granules OMIM:619172
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type
Decreased circulating IgA level, Decreased circulating total IgM, Decreased circulating IgG level OMIM:300861
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Panhypogammaglobulinemia, Enteroviral dermatomyositis syndrome, Recurrent urinary tract infection... OMIM:307200
Familial Calcium Pyrophosphate Deposition
Joint dislocation, Arthritis, Limitation of joint mobility, Joint swelling, Chondrocalcinosis, Os... ORPHA:1416
Immunodeficiency 60 And Autoimmunity
Decreased circulating total IgM, Pancytopenia, Decreased circulating IgE, Decreased circulating I... OMIM:618394
Wolfram Syndrome, Mitochondrial Form
Thrombocytopenia, Sideroblastic anemia, Megaloblastic anemia, Neutropenia OMIM:598500
Leukocyte Adhesion Deficiency, Type Iii
Anemia, Hepatosplenomegaly, Recurrent bacterial infections, Leukocytosis, Extramedullary hematopo... OMIM:612840
Primary Intestinal Lymphangiectasia
Anemia, Opportunistic infection, Decreased circulating total IgM, Reduced proportion of CD4+ effe... ORPHA:90362
Pelger-Huet Anomaly
Eczema, Hyposegmentation of neutrophil nuclei, Abnormality of neutrophils, Recurrent otitis media... OMIM:169400
Liddle Syndrome
Hypokalemia ORPHA:526
Immunodeficiency 92
Osteomyelitis, B lymphocytopenia, Lymphocytosis, Sclerosing cholangitis, Esophagitis, Cholangitis... OMIM:619652
Muscular Dystrophy, Barnes Type
Myotonia OMIM:158800
Imerslund-Gräsbeck Syndrome
Angular cheilitis, Megaloblastic anemia, Anisopoikilocytosis, Abnormal hemoglobin concentration, ... ORPHA:35858
Drug Reaction With Eosinophilia And Systemic Symptoms
Thyroiditis, Lymphocytosis, Lymphadenopathy, Eosinophilia ORPHA:139402
Renal Tubular Acidosis, Distal, 1
Elevated circulating creatinine concentration, Hypokalemia, Hypocalcemia OMIM:179800
Griscelli Syndrome Type 2
Petechiae, Pancytopenia, Hemophagocytosis, Neutropenia, Splenomegaly ORPHA:79477
Loeffler Endocarditis
Eosinophilia ORPHA:75566
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Myofiber disarray, Left ventricular hypertrophy, Dilated cardiomyopathy, Left ventricular noncomp... OMIM:612158
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0