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Gene: Pik3cg MGI:1353576

Gene Summary

Name:

phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma

Synonyms:

PI3Kgamma, PI(3)Kgamma, 5830428L06Rik, p110gamma, PI3K^gamma

Order Alleles

IMPC Data Collections

Body Weight Measurements
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.

Phenotype	System	Allele	Zyg	Sex	Life Stage	P Value
decreased circulating potassium level		Pik3cg^{tm1a(EUCOMM)Wtsi}	HOM		Early adult	9.53×10^-05

Download data as: TSV XLS

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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	0.0%
aorta	0.0%
blood vessel
bone	0.0%
brain	0.0%
brainstem	0.0%
brown adipose tissue	0.0%
cartilage tissue	0.0%
cerebellum	0.0%
cerebral cortex	0.0%
eye	0.0%
gall bladder	0.0%
heart	0.0%
hippocampus	0.0%
hypothalamus	0.0%
kidney	0.0%
large intestine	0.0%
liver	0.0%
lower urinary tract	0.0%
lung	0.0%
lymph node	0.0%
mammary gland	0.0%
oesophagus
olfactory lobe	0.0%
ovary	0.0%
oviduct	0.0%
pancreas	0.0%
parathyroid gland	0.0%
peripheral nervous system	0.0%
peyer's patch
pituitary gland	0.0%
prostate gland	0.0%
skeletal muscle tissue
skin	0.0%
small intestine	0.0%
spinal cord	0.0%
spleen	0.0%
stomach	0.0%
striatum	0.0%
testis	0.0%
thymus	0.0%
thyroid gland	0.0%
trachea	0.0%
uterus	0.0%
white adipose tissue	0.0%

No Embryo expression data was found for this gene.

Associated Images

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

Legacy Phenotype Associated Images

Pik3cg^{tm1a(EUCOMM)Wtsi}
forearm, WT, Male, WTSI

Pik3cg^{tm1a(EUCOMM)Wtsi}
body, WT, Male, WTSI

Pik3cg^{tm1a(EUCOMM)Wtsi}
head, WT, Male, WTSI

View all 113 images

Pik3cg^{tm1a(EUCOMM)Wtsi}
persistence of hyaloid vascular system, HOM, Female, WTSI

Pik3cg^{tm1a(EUCOMM)Wtsi}
abnormal retinal pigmentation, left eye, HOM, Female, WTSI

Pik3cg^{tm1a(EUCOMM)Wtsi}
eye, corneal opacity, cornea/lens fusion, HOM, Female, WTSI

Pik3cg^{tm1a(EUCOMM)Wtsi}
eye, cataracts, HOM, Female, WTSI

Pik3cg^{tm1a(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.

Human diseases associated with Pik3cg (1 diseases)
Human diseases predicted to be associated with Pik3cg (1211 diseases)

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, Decreased circulating IgG level, ...	OMIM:619802

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

Disease	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	Impaired neutrophil bactericidal activity, Absent neutrophil specific granules, Hyposegmentation ...	OMIM:245480
Immunodeficiency 86	Impaired oxidative burst, Decreased circulating IgG level, Increased circulating IgM level, BCGitis	OMIM:619549
Myelolymphatic Insufficiency	Leukopenia, Hyposegmentation of neutrophil nuclei, Recurrent bacterial infections, Recurrent vira...	OMIM:310350
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein	Recurrent bacterial infections, Abnormality of T cell physiology, Recurrent protozoan infections,...	OMIM:308220
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes	T lymphocytopenia, Decreased circulating IgG level, Recurrent bacterial infections, Recurrent can...	OMIM:242870
Reticular Dysgenesis	Congenital agranulocytosis, Impaired T cell function, Lack of T cell function, Leukopenia, Hypopl...	OMIM:267500
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Agammaglobulinemia, Lymphopenia, Hypoplasia of the thymus	OMIM:200900
Thrombocytopenia 7	Reduced platelet alpha granules, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Red...	OMIM:619130
Immunodeficiency 81	Decreased proportion of CD4-positive T cells, Recurrent cutaneous abscess formation, Autoimmune h...	OMIM:619374
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency	Recurrent bacterial infections, Recurrent streptococcus pneumoniae infections, Recurrent staphylo...	ORPHA:70592
Immunodeficiency 108 With Autoinflammation	Hyposegmentation of neutrophil nuclei, Recurrent abscess formation, Impaired neutrophil chemotaxis	OMIM:260570
Pseudoxanthomatous Diffuse Cutaneous Mastocytosis	Cutaneous mastocytosis	ORPHA:280794
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Increased circul...	OMIM:202700
Immunodeficiency 15B	Decreased circulating antibody level, Agammaglobulinemia, Monocytosis, Decreased lymphocyte proli...	OMIM:615592
Immunodeficiency 18	Decreased proportion of CD3-positive T cells, Defective T cell proliferation, Lymphopenia	OMIM:615615
Immunodeficiency 24	Decreased circulating IgG level, Lymphopenia, Decreased CD4:CD8 ratio, Reduced proportion of muco...	OMIM:615897
Immunodeficiency, Common Variable, 5	Recurrent respiratory infections, Chronic decreased circulating total IgG, Recurrent bacterial in...	OMIM:613495
Ras-Associated Autoimmune Leukoproliferative Disorder	Hemolytic anemia, Pancytopenia, Autoimmune thrombocytopenia, Follicular hyperplasia, Splenomegaly...	OMIM:614470
Immunodeficiency 103, Susceptibility To Fungal Infections	Abnormal B cell count, Increased circulating IgE level, Hypereosinophilia, Lymphadenopathy, Abnor...	OMIM:212050
Neutropenia, Severe Congenital, 6, Autosomal Recessive	Recurrent otitis media, Recurrent respiratory infections, Recurrent bacterial infections, Neutrop...	OMIM:616022
Immunodeficiency 50	Lymphopenia, Neutropenia, Eczema, Decreased circulating antibody level	OMIM:300988
Immunodeficiency 14B, Autosomal Recessive	Neutrophilia, Reduced natural killer cell activity, Leukocytosis, Decreased circulating total IgM...	OMIM:619281
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Abnormally low T cell receptor excision circle level, Lymphopenia, Pancytopenia, Generalized lymp...	OMIM:618986
Agammaglobulinemia 3, Autosomal Recessive	Abnormal T cell morphology, Agammaglobulinemia, Recurrent bacterial infections, Absent isohemaggl...	OMIM:613501
Athrombia, Essential	Impaired platelet aggregation, Prolonged bleeding time, Impaired platelet adhesion	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, Impaired memory B cell generation, Increased circulating ...	OMIM:606843
Wiskott-Aldrich Syndrome 2	Reduced natural killer cell activity, Decreased proportion of CD8-positive T cells, Recurrent inf...	OMIM:614493
Neutropenia, Chronic Familial	Neutropenia, Periodontitis, Increased circulating antibody level	OMIM:162700
Bleeding Disorder, Platelet-Type, 24	Increased mean platelet volume, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Plat...	OMIM:619271
Thrombocythemia 1	Splenomegaly, Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggre...	OMIM:187950
Retinal Telangiectasia And Hypogammaglobulinemia	Reduced delayed hypersensitivity, Decreased circulating IgG level	OMIM:267900
Autoimmune Lymphoproliferative Syndrome	Autoimmune hemolytic anemia, Eosinophilia, Chronic noninfectious lymphadenopathy, Increased circu...	OMIM:601859
Immune Deficiency, Familial Variable	Decreased circulating IgG level, Decreased circulating IgA level	OMIM:146830
Platelet Signal Processing Defect	Impaired collagen-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Thromb...	OMIM:173590
Immunodeficiency With Hyper-Igm, Type 2	Recurrent infection of the gastrointestinal tract, Recurrent respiratory infections, Impaired Ig ...	OMIM:605258
Glanzmann Thrombasthenia 2	Prolonged bleeding time, Decreased platelet glycoprotein IIb-IIIa, Impaired ADP-induced platelet ...	OMIM:619267
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis	Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos...	OMIM:608203
Immunodeficiency 35	Recurrent respiratory infections, Recurrent viral infections, Recurrent mycobacterial infections,...	OMIM:611521
Agammaglobulinemia 4, Autosomal Recessive	Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total ...	OMIM:613502
Agammaglobulinemia 2, Autosomal Recessive	Recurrent respiratory infections, Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulin...	OMIM:613500
Immunodeficiency 11A	Decreased proportion of CD4+CD25+ regulatory T cells, Decreased circulating antibody level, Agamm...	OMIM:615206
Undritz Anomaly	Hypersegmentation of neutrophil nuclei	OMIM:191500
Severe Combined Immunodeficiency, X-Linked	Impaired lymphocyte transformation with phytohemagglutinin, Reduced natural killer cell activity,...	OMIM:300400
Gamma-A-Globulin, Defect In Assembly Of	Decreased circulating IgA level	OMIM:137050
Kimura Disease	Eosinophilia, Follicular hyperplasia, Increased circulating IgE level, Lymphadenopathy, Abnormal ...	ORPHA:482
Immunodeficiency, Common Variable, 4	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc...	OMIM:613494
Immunodeficiency 53	Impaired lymphocyte transformation with phytohemagglutinin, Recurrent urinary tract infections, N...	OMIM:617585
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome	Decreased proportion of CD8-positive T cells, Increased circulating IgE level, Increased circulat...	OMIM:617241
Immunodeficiency 48	Recurrent respiratory infections, Absence of CD8-positive T cells, Splenomegaly, Recurrent candid...	OMIM:269840
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Abnormal hemoglobin, Splenomegaly, Anemia, Abnormal platelet function, Thrombocytopenia	ORPHA:231393
Immunodeficiency 32B	Neutrophilia, Eosinophilia, Thrombocytopenia, Splenomegaly, Impaired oxidative burst, Abnormal ci...	OMIM:226990
Adult Idiopathic Neutropenia	Abnormal neutrophil count, Increased circulating IgM level, Monocytosis, Neutropenia, Monocytopen...	ORPHA:2688
Immunodeficiency, Common Variable, 3	Recurrent respiratory infections, Decreased proportion of class-switched memory B cells, Decrease...	OMIM:613493
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant	Macrothrombocytopenia, Impaired platelet aggregation	OMIM:613112
Immunodeficiency 15A	Recurrent respiratory infections, Decreased proportion of CD8-positive T cells, Decreased proport...	OMIM:618204
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Eosinophilia, Increased circulating IgA level, Autoimmune thrombocytopenia, Decreased proportion ...	ORPHA:169154
Glanzmann Thrombasthenia 1	Prolonged bleeding time, Decreased platelet glycoprotein IIb-IIIa, Impaired ADP-induced platelet ...	OMIM:273800
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly, Cutaneous anergy	OMIM:183350
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia	Macrothrombocytopenia, Impaired platelet aggregation, Thrombocytopenia	OMIM:124900
Immunodeficiency 25	Autoimmune hemolytic anemia, Eosinophilia, Increased circulating IgA level, Increased circulating...	OMIM:610163
Immunodeficiency 97 With Autoinflammation	Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Decreased circulating IgG level, ...	OMIM:619802
Agammaglobulinemia 7, Autosomal Recessive	Erythema nodosum, Agammaglobulinemia, Neutropenia, Reduced natural killer cell count, Panhypogamm...	OMIM:615214
Neutropenia, Severe Congenital, 7, Autosomal Recessive	Recurrent infections, Neutropenia	OMIM:617014
Combined Immunodeficiency, X-Linked	Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells...	OMIM:312863
Platelet Responsiveness To Adrenaline, Depressed	Impaired epinephrine-induced platelet aggregation	OMIM:173580
Autoimmune Lymphoproliferative Syndrome, Type Iia	Autoimmune hemolytic anemia, Eosinophilia, Chronic noninfectious lymphadenopathy, Increased circu...	OMIM:603909
Ataxia-Pancytopenia Syndrome	Recurrent respiratory infections, Pancytopenia, Abnormal macrophage morphology, Abnormality of ne...	ORPHA:2585
Bleeding Disorder, Platelet-Type, 16	Giant platelets, Macrothrombocytopenia, Platelet anisocytosis, Anemia, Impaired platelet aggregat...	OMIM:187800
Whim Syndrome 1	Recurrent upper respiratory tract infections, Decreased circulating antibody level, Recurrent bac...	OMIM:193670
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Lymphopenia, Abnormal B cell count, Abnormal T cell count, Autoimmune hemolytic anemia, Eosinophi...	ORPHA:331206
Bleeding Disorder, Platelet-Type, 21	Increased mean platelet volume, Recurrent viral infections, Impaired ADP-induced platelet aggrega...	OMIM:617443
Immunodeficiency 11B With Atopic Dermatitis	Decreased circulating total IgM, Increased circulating IgE level, Eosinophilia	OMIM:617638
Immunodeficiency With Hyper-Igm, Type 5	Impaired Ig class switch recombination, Increased circulating IgM level, Recurrent bacterial infe...	OMIM:608106
Glycoprotein Storage Disease	Splenomegaly, Gout	OMIM:232900
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To	Acute myeloid leukemia, Refractory anemia, Leukopenia, Monocytosis, Bone marrow hypocellularity	OMIM:616871
Bleeding Disorder, Platelet-Type, 22	Impaired platelet aggregation	OMIM:618462
Neutropenia-Monocytopenia-Deafness Syndrome	Abnormal macrophage morphology, Abnormality of neutrophils	ORPHA:2690
Immunodeficiency 88	Eosinophilia	OMIM:619630
Eosinophilia, Familial	Anemia, Leukocytosis, Eosinophilia, Thrombocytopenia	OMIM:131400
Neutropenia, Severe Congenital, 2, Autosomal Dominant	Monocytosis, B lymphocytopenia, Neutropenia	OMIM:613107
Monocyte Chemotactic Disorder	Cutaneous anergy, Chronic mucocutaneous candidiasis	OMIM:252250
Bleeding Disorder, Platelet-Type, 11	Impaired collagen-induced platelet aggregation, Prolonged bleeding time, Abnormal platelet count,...	OMIM:614201
Whim Syndrome 2	Severe infection, Recurrent gingivitis, Chronic neutropenia	OMIM:619407
Glanzmann Thrombasthenia	Prolonged bleeding time, Impaired thrombin-induced platelet aggregation, Impaired ADP-induced pla...	ORPHA:849
B-Cell Expansion With Nfkb And T-Cell Anergy	Decreased specific antibody response to polysaccharide vaccine, Splenomegaly, Decreased circulati...	OMIM:616452
Immunoerythromyeloid Hypoplasia	Erythroid hypoplasia, Decreased circulating IgG level	OMIM:242880
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	Lymphopenia, Eosinophilia, Hepatosplenomegaly, Increased circulating antibody level, Decreased ly...	ORPHA:169160
Immunodeficiency Due To Defect In Mapbp-Interacting Protein	Decreased circulating total IgM, Neutropenia	OMIM:610798
Congenital Disorder Of Glycosylation, Type Iic	Bronchiolitis, Neutrophilia, Recurrent otitis media, Reduction of neutrophil motility	OMIM:266265
X-Linked Severe Congenital Neutropenia	Monocytopenia, Recurrent bacterial infections, Neutropenia	ORPHA:86788
Ichthyosis-Prematurity Syndrome	Eosinophilia	ORPHA:88621
Immunodeficiency 34	Recurrent mycobacterial infections, BCGosis, Pulmonary tuberculosis	OMIM:300645
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Splenomegaly, Increased circula...	OMIM:602450
Neutropenia, Lethal Congenital, With Eosinophilia	Eosinophilia, Neutropenia	OMIM:257100
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss	Prolonged bleeding time, Leukocyte inclusion bodies, Impaired ADP-induced platelet aggregation, M...	OMIM:155100
Agammaglobulinemia 6, Autosomal Recessive	Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total ...	OMIM:612692
Agammaglobulinemia 10, Autosomal Dominant	Transient neutropenia, Agammaglobulinemia, Decreased circulating total IgM, Recurrent sinusitis, ...	OMIM:619707
Diamond-Blackfan Anemia 18	Erythroid hypoplasia, Steroid-responsive anemia, Neutropenia	OMIM:618310
Immunodeficiency 67	Liver abscess, Transient neutropenia, Recurrent staphylococcal infections, Increased circulating ...	OMIM:607676
Mannose-Binding Lectin Deficiency	Recurrent herpes, Recurrent Klebsiella infections, Recurrent meningococcal disease, Disseminated ...	OMIM:614372
Immunodeficiency 61	Recurrent respiratory infections, Frequent Giardia lamblia infestation, Decreased circulating IgG...	OMIM:300310
Griscelli Syndrome, Type 2	Reduced delayed hypersensitivity, Recurrent bacterial infections, Hemophagocytosis, Hepatosplenom...	OMIM:607624
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4	Agammaglobulinemia, Decreased circulating antibody level	OMIM:616911
Complement Component 7 Deficiency	Recurrent Neisserial infections, Recurrent meningococcal disease	OMIM:610102
Myalgia-Eosinophilia Syndrome Associated With Tryptophan	Lymphopenia, Eosinophilia	ORPHA:2582
Myeloproliferative Disorder, Chronic, With Eosinophilia	Eosinophilia, Myeloproliferative disorder	OMIM:131440
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections	Increased circulating IgE level, Eosinophilia	OMIM:618523
Acute Myelomonocytic Leukemia	Thrombocytopenia, Leukocytosis, Eosinophilia, Anemia	ORPHA:517
Transcobalamin Deficiency	Lymphopenia, Pancytopenia, Decreased circulating antibody level, Decreased circulating total IgM,...	ORPHA:859
O'Sullivan-Mcleod Syndrome	Increased circulating antibody level, Eosinophilia	ORPHA:99965
Von Willebrand Disease	Abnormal mitral valve morphology, Abnormality of thrombocytes, Abnormal platelet function	ORPHA:903
Caspase 8 Deficiency	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc...	OMIM:607271
Combined Cellular And Humoral Immune Defects With Granulomas	T lymphocytopenia, Decreased circulating IgG level, B lymphocytopenia	OMIM:233650
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Decreased proportion of CD4-positive T cells, Recurrent respiratory infections, Persistent CMV vi...	OMIM:300853
Immunodeficiency With Hyper-Igm, Type 4	Autoimmune hemolytic anemia, Impaired Ig class switch recombination, Autoimmune thrombocytopenia,...	OMIM:608184
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Splenomegaly, Decreased proportion of class-switched memory B cells, Lymphadenopathy, Increased c...	OMIM:615513
Generalized Eruptive Histiocytosis	Leukemia, Hypereosinophilia, Lymphadenopathy, Histiocytosis	ORPHA:157991
Immunodeficiency 51	Recurrent respiratory infections, Recurrent cutaneous fungal infections, Chronic mucocutaneous ca...	OMIM:613953
Hypereosinophilic Syndrome, Idiopathic	Myeloproliferative disorder, Splenomegaly, Eosinophilia	OMIM:607685
Lymphoma, Hodgkin, Classic	Impaired lymphocyte transformation with phytohemagglutinin, Polyclonal elevation of IgM	OMIM:236000
Neutropenia, Severe Congenital, X-Linked	Monocytopenia, Recurrent bacterial infections, Decreased CD4:CD8 ratio, Neutropenia	OMIM:300299
Cd8 Deficiency, Familial	Absence of CD8-positive T cells, Recurrent respiratory infections, Recurrent bacterial infections...	OMIM:608957
Platelet Disorder, Undefined	Prolonged bleeding time, Impaired platelet aggregation, Thrombocytopenia	OMIM:173420
Immunodeficiency, Common Variable, 13	Pancytopenia, Decreased circulating antibody level, Acute lymphoblastic leukemia, Recurrent bacte...	OMIM:616873
Nevoid Hypermelanosis, Linear And Whorled	Eosinophilia	OMIM:614323
Immunodeficiency, Common Variable, 1	Impaired T cell function, Splenomegaly, Recurrent pneumonia, Neutropenia in presence of anti-neut...	OMIM:607594
Immunodeficiency 46	Chronic oral candidiasis, Intermittent thrombocytopenia, Decreased circulating antibody level, Co...	OMIM:616740
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections	Increased circulating IgE level, Eosinophilia, Cutaneous abscess	OMIM:147060
Immunodeficiency 105	Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Pancytopenia, Absence of...	OMIM:619924
Cernunnos-Xlf Deficiency	Recurrent viral infections, Thrombocytopenia, Decreased circulating antibody level, T lymphocytop...	ORPHA:169079
Osteoarthritis Susceptibility 3	Osteoarthritis, Osteoarthritis of the distal interphalangeal joint, Joint stiffness, Osteoarthrit...	OMIM:607850
Roifman Syndrome	Hypogonadotropic hypogonadism, Eosinophilia, Hepatosplenomegaly, Decreased circulating antibody l...	ORPHA:353298
Candidiasis, Familial, 1	Cutaneous anergy, Chronic mucocutaneous candidiasis, Recurrent viral infections	OMIM:114580
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections	Eosinophilia, Increased circulating IgE level, Increased circulating IgG level, Decreased circula...	OMIM:243700
Immunodeficiency 33	Pneumocystis jirovecii pneumonia, Increased circulating IgA level, Decreased circulating total Ig...	OMIM:300636
Histiocytosis, Familial Lipochrome	Increased circulating antibody level, Histiocytosis	OMIM:235900
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Increased circulating a...	OMIM:615285
Immunodeficiency 84	Perianal abscess, Splenomegaly, Persistent EBV viremia, Recurrent bacterial infections, B lymphoc...	OMIM:619437
Peeling Skin Syndrome 1	Increased circulating IgE level, Eosinophilia	OMIM:270300
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Absence of lymph node germinal center, Increased circulating IgE level, Lack of T cell function, ...	ORPHA:277
Immunodeficiency 30	Recurrent mycobacterial infections, Recurrent infections	OMIM:614891
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis	Abnormality of the tonsils, Decreased proportion of CD8-positive T cells, Decreased circulating t...	OMIM:611926
Necrobiosis Lipoidica	Abnormality of the thyroid gland, Diabetes mellitus, Granuloma, Abnormality of neutrophil physiology	ORPHA:542592
Moyamoya Disease With Early-Onset Achalasia	Abnormal platelet aggregation, Thrombocytopenia	ORPHA:401945
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Recurrent Aspergillus infections, Recurrent bacterial skin infections, Liver abscess, Recurrent S...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Recurrent Aspergillus infections, Recurrent bacterial skin infections, Liver abscess, Recurrent S...	OMIM:233710
Persistent Polyclonal B-Cell Lymphocytosis	Splenomegaly, Decreased circulating total IgM, Lymphocytosis	OMIM:606445
Immunodeficiency 89 And Autoimmunity	Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 23 concentrati...	OMIM:619632
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Eosinophilia, Autoimmune thrombocytopenia, Increased circulating IgE level, Lymphadenopathy, Anem...	OMIM:304790
Immunodeficiency, Common Variable, 7	Splenomegaly, Chronic (near) absent circulating IgG4, Reduced isohemagglutinin level, Chronic par...	OMIM:614699
Cyclic Neutropenia	Cyclic neutropenia	OMIM:162800
Hyperaldosteronism, Familial, Type Ii	Hypokalemia	OMIM:605635
Juvenile Temporal Arteritis	Leukocytosis, Eosinophilia	ORPHA:26137
Immunodeficiency, Common Variable, 14	Decreased proportion of class-switched memory B cells, Decreased circulating total IgM, Decreased...	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
Platelet Disorder, Familial, With Associated Myeloid Malignancy	Acute myeloid leukemia, Prolonged bleeding time, Acute monocytic leukemia, Impaired platelet aggr...	OMIM:601399
Chondrocalcinosis 2	Arthropathy, Polyarticular chondrocalcinosis, Osteoarthritis	OMIM:118600
Neutrophilia, Hereditary	Splenomegaly, Neutrophilia	OMIM:162830
Bare Lymphocyte Syndrome, Type Ii	Chronic lymphocytic meningitis, Recurrent urinary tract infections, Recurrent viral infections, R...	OMIM:209920
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Recurrent Aspergillus infections, Recurrent bacterial skin infections, Liver abscess, Recurrent S...	OMIM:233690
Reticular Dysgenesis	Skin rash, Abnormality of neutrophils, Skin ulcer, Decreased circulating antibody level, Leukopen...	ORPHA:33355
Complement Component 8 Deficiency, Type Ii	Recurrent Neisserial infections, Meningitis	OMIM:613789
Neutropenia, Severe Congenital, 3, Autosomal Recessive	Acute lymphoblastic leukemia, Recurrent bacterial infections, Neutropenia	OMIM:610738
Complement Factor D Deficiency	Recurrent bacterial infections	OMIM:613912
Bleeding Disorder, Platelet-Type, 13, Susceptibility To	Impaired thromboxane A2 agonist-induced platelet aggregation	OMIM:614009
Combined Immunodeficiency Due To Zap70 Deficiency	Recurrent bacterial skin infections, Autoimmune hemolytic anemia, Eosinophilia, Recurrent viral i...	ORPHA:911
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Impaired lymphocyte transformation with phytohemagglutinin, Decreased lymphocyte proliferation in...	OMIM:619313
Immunodeficiency 64 With Lymphoproliferation	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos...	OMIM:618534
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Fluctuating splenomegaly, Bronchiectasi...	OMIM:619220
Immunodeficiency, Common Variable, 2	Impaired T cell function, Splenomegaly, Recurrent pneumonia, Recurrent bacterial infections, Recu...	OMIM:240500
Immunoglobulin A Deficiency 2	Abnormal lymphocyte morphology, Decreased circulating IgA level	OMIM:609529
Bleeding Disorder, Platelet-Type, 8	Impaired ADP-induced platelet aggregation	OMIM:609821
Lymphoproliferative Syndrome, X-Linked, 1	Pancytopenia, Aplastic anemia, Dysgammaglobulinemia, Reduced natural killer cell activity, Spleno...	OMIM:308240
Hereditary Folate Malabsorption	Pancytopenia, Eosinophilia, Megaloblastic anemia, Decreased circulating antibody level, Thrombocy...	ORPHA:90045
Complement Component C1R/C1S Deficiency	Discoid lupus rash, Arthritis, Nephritis, Autoimmunity	OMIM:216950
Agammaglobulinemia 8A, Autosomal Dominant	Recurrent infections, Agammaglobulinemia, Post-vaccination polio, B lymphocytopenia, Recurrent ot...	OMIM:616941
Immunodeficiency 102	Increased circulating interleukin 6 concentration, Leukopenia, Decreased circulating IgG level, P...	OMIM:301082
Immunodeficiency 62	Autoimmune thrombocytopenia, Decreased proportion of memory B cells, Decreased circulating total ...	OMIM:618459
Thomsen And Becker Disease	Myotonia	ORPHA:614
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Chronic oral candidiasis, Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Recurrent pneumonia, Neu...	OMIM:150550
Agammaglobulinemia 5, Autosomal Dominant	Agammaglobulinemia	OMIM:613506
Trimethylaminuria	Splenomegaly, Recurrent pneumonia, Anemia, Neutropenia	OMIM:602079
Hemophagocytic Lymphohistiocytosis, Familial, 3	Reduced natural killer cell activity, Hepatosplenomegaly, Hemophagocytosis, Granulocytopenia, Anemia	OMIM:608898
Immunodeficiency 110 With Lymphoproliferation	Autoimmune hemolytic anemia, Recurrent viral infections, Recurrent upper respiratory tract infect...	OMIM:614868
Immunodeficiency 52	Decreased proportion of CD4-positive T cells, Lymphopenia, Persistent CMV viremia, Autoimmune thr...	OMIM:617514
Immunodeficiency By Defective Expression Of Mhc Class Ii	Recurrent herpes, Abnormal CD4:CD8 ratio, Recurrent viral infections, Recurrent candida infection...	ORPHA:572
Complement Component 6 Deficiency	Recurrent meningococcal disease	OMIM:612446
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Macrocytic anemia, Anisocytosis, Elliptocytosis, Bone marrow hypocellularity, Poikilocytosis, Neu...	OMIM:300835
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Adrenal cortical sclerosis, Absent specific antibody response, Lymphopenia, Severe B lymphocytope...	OMIM:102700
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Thrombocytosis, Anemia of inadequate pro...	ORPHA:75564
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections	Eosinophilia, Increased circulating IgE level, Decreased circulating IgA level, Cutaneous abscess...	OMIM:618282
Osteoarthritis Susceptibility 2	Osteoarthritis, Heberden's node	OMIM:140600
Myotonia Congenita, Autosomal Dominant	Handgrip myotonia, Myotonia, Percussion myotonia, Myotonia with warm-up phenomenon, EMG: myotonic...	OMIM:160800
Intellectual Developmental Disorder With Speech Delay, Dysmorphic Facies, And T-Cell Abnormalities	Eosinophilia, Abnormally low T cell receptor excision circle level	OMIM:618092
Rippling Muscle Disease 1	Percussion-induced rapid rolling muscle contractions, Muscle mounding	OMIM:600332
Familial Hemophagocytic Lymphohistiocytosis	Increased circulating interleukin 6 concentration, Skin rash, Maculopapular exanthema, Petechiae,...	ORPHA:540
Pgm3-Cdg	Hemolytic anemia, Abnormal proportion of CD8-positive T cells, Eosinophilia, Increased circulatin...	ORPHA:443811
Immunodeficiency 44	Decreased circulating total IgM, Lymphopenia, Decreased circulating IgA level, Abnormal circulati...	OMIM:616636
Immunodeficiency 93 And Hypertrophic Cardiomyopathy	Neutropenia, Bronchiectasis, Decreased proportion of class-switched memory B cells, Agammaglobuli...	OMIM:619705
Autosomal Dominant Severe Congenital Neutropenia	Acute myeloid leukemia, Aplastic anemia, Eosinophilia, Acute lymphoblastic leukemia, Monocytosis,...	ORPHA:486
Autoinflammatory Disease, Systemic, X-Linked	Anterior uveitis, Complete or near-complete absence of specific antibody response to unconjugated...	OMIM:301081
Felty Syndrome	Splenomegaly, Rheumatoid arthritis, Neutropenia	OMIM:134750
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency	Neutropenia	ORPHA:90023
Igg4-Related Aortitis	Hypereosinophilia, Increased circulating IgE level, Increased circulating antibody level, Increas...	ORPHA:449400
Autoinflammation With Arthritis And Dyskeratosis	Autoimmune hemolytic anemia, Increased circulating IgA level, Splenomegaly, Hypereosinophilia, Th...	OMIM:617388
Chondrocalcinosis 1	Osteoarthritis, Chondrocalcinosis	OMIM:600668
Chilblain Lupus	Inflammatory abnormality of the skin, Skin rash, Discoid lupus rash, Skin ulcer, Chronic myelomon...	ORPHA:90280
Combined Immunodeficiency Due To Dock8 Deficiency	Recurrent bacterial skin infections, Pneumonia, Increased circulating IgE level, Atopic dermatiti...	ORPHA:217390
Idiopathic Chronic Eosinophilic Pneumonia	Leukocytosis, Increased circulating IgE level, Hypereosinophilia	ORPHA:2902
Hermansky-Pudlak Syndrome 9	Leukopenia, Abnormal platelet aggregation, Thrombocytopenia	OMIM:614171
Gray Platelet Syndrome	Prolonged bleeding time, Impaired thrombin-induced platelet aggregation, Abnormal number of alpha...	OMIM:139090
Hermansky-Pudlak Syndrome 3	Impaired platelet aggregation, Abnormal number of dense granules	OMIM:614072
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia	Decreased circulating total IgM, Decreased circulating IgG level, B lymphocytopenia, Abnormally l...	OMIM:618987
Agammaglobulinemia 1, Autosomal Recessive	Recurrent respiratory infections, Recurrent enteroviral infections, Recurrent pneumonia, Decrease...	OMIM:601495
Benign Cephalic Histiocytosis	Inflammatory abnormality of the skin, Skin rash, Histiocytosis	ORPHA:157997
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Impaired neutrophil bactericidal activity, Pigment gallstones, Spontaneous hemolytic crises, Sple...	OMIM:613470
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections	Lymphopenia, Recurrent skin infections, Recurrent pneumonia, Increased circulating IgE level, Ato...	OMIM:619752
Iga Pemphigus	Eosinophilia, Cutaneous abscess, Monoclonal elevation of circulating IgA, Increased circulating I...	ORPHA:555905
Selective Igm Deficiency	Recurrent herpes, Recurrent staphylococcal infections, Severe varicella zoster infection, Parapro...	ORPHA:331235
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Lymphopenia, Recurrent herpes, Decreased proportion of naive T cells, Chronic oral candidiasis, R...	ORPHA:276
Mast Cell Sarcoma	Mastocytosis, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy	ORPHA:66661
Talo-Patello-Scaphoid Osteolysis	Osteolysis of talus, Enlarged joints, Osteolysis of scaphoids, Synovitis, Osteolysis of patellae	ORPHA:50809
Eosinophilopenia	Decreased eosinophil count	OMIM:131430
Severe Combined Immunodeficiency Due To Foxn1 Deficiency	T lymphocytopenia	ORPHA:169095
Indolent Systemic Mastocytosis	Splenomegaly, Lymphadenopathy, Increased proportion of CD25+ mast cells, Mastocytosis, Abnormal m...	ORPHA:98848
Severe Combined Immunodeficiency Due To Dclre1C Deficiency	Recurrent viral infections, Recurrent mycobacterial infections, Recurrent opportunistic infection...	ORPHA:275
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Abnormal immunoglobulin level, Invasive fungal infection, Increased T cell count, Increased circu...	ORPHA:98813
Mastocytosis, Cutaneous	Cutaneous mastocytosis, Telangiectasia macularis eruptiva perstans	OMIM:154800
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc...	ORPHA:70593
Bernard-Soulier Syndrome	Prolonged bleeding time, Impaired ristocetin-induced platelet aggregation, Giant platelets, Macro...	OMIM:231200
Immunodeficiency 7	Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Lymphadenopathy, Neutropenia	OMIM:615387
Lymphoproliferative Syndrome 3	Hepatosplenomegaly, Lymphadenopathy, Decreased circulating antibody level, Partial absence of spe...	OMIM:618261
Neutrophil Actin Dysfunction	Recurrent bacterial infections	OMIM:257150
Immunodeficiency 28	Recurrent mycobacterial infections	OMIM:614889
T-Cell Immunodeficiency With Thymic Aplasia	Aplasia of the thymus, Hepatosplenomegaly, T lymphocytopenia, Abnormally low T cell receptor exci...	OMIM:242700
Immunodeficiency 17	Recurrent respiratory infections, Autoimmune hemolytic anemia, Decreased proportion of CD8-positi...	OMIM:615607
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Bone marrow hypo...	OMIM:619041
Immunodeficiency 107, Susceptibility To Invasive Staphylococcus Aureus Infection	Chronic furunculosis, Pyoderma gangrenosum, Cutaneous abscess	OMIM:619986
Immunodeficiency, Common Variable, 12, With Autoimmunity	Atrophic gastritis, Autoimmune hemolytic anemia, Recurrent skin infections, Recurrent pneumonia, ...	OMIM:616576
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections	Increased circulating interleukin 6 concentration, Increased circulating IgE level, Decreased pro...	OMIM:618944
Cinca Syndrome	Eosinophilia, Leukocytosis, Lymphadenopathy, Hepatosplenomegaly, Anemia	OMIM:607115
Autoimmune Lymphoproliferative Syndrome	Increased circulating IgG level, Thyroid carcinoma, Lymphocytosis, Increased B cell count, Decrea...	ORPHA:3261
Pulmonary Blastoma	Recurrent pneumonia, Weight loss	ORPHA:64741
Immunodeficiency 21	Aplastic anemia, Recurrent viral infections, B lymphocytopenia, Recurrent fungal infections, Recu...	OMIM:614172
Immunodeficiency 36 With Lymphoproliferation	Decreased circulating IgG level, Persistent CMV viremia, Splenomegaly, Recurrent upper respirator...	OMIM:616005
Immunodeficiency 91 And Hyperinflammation	Neutrophilia, Hepatosplenomegaly, Lymphadenopathy, Monocytosis, Hemophagocytosis, Thrombocytopenia	OMIM:619644
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Hemolytic anemia, Abscess, Perianal abscess, Splenomegaly, Lymphadenitis, Recurrent tonsillitis, ...	OMIM:618935
Immunodeficiency, Common Variable, 6	Recurrent respiratory infections, Autoimmune thrombocytopenia, Recurrent bacterial infections, Ch...	OMIM:613496
Immunodeficiency 23	Hemolytic anemia, Abscess, Eosinophilia, Increased circulating IgE level, Increased circulating I...	OMIM:615816
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly, Leukocytosis...	ORPHA:98849
Congenital Atransferrinemia	Arthritis, Anemia	ORPHA:1195
Von Willebrand Disease, Type 3	Prolonged bleeding time, Impaired platelet aggregation, Thrombocytopenia	OMIM:277480
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis	Lymphopenia, Autoimmune hemolytic anemia, Plasmacytosis, Increased circulating antibody level	OMIM:247800
Macrophage Activation Syndrome	Increased inflammatory response, Increased circulating interleukin 6 concentration, Abnormality o...	ORPHA:158061
Microcephalic Primordial Dwarfism, Toriello Type	Decreased circulating total IgM, Decreased circulating IgG level, Neutropenia	ORPHA:2643
Talo-Patello-Scaphoid Osteolysis, Synovitis, And Short Fourth Metacarpals	Osteolysis of talus, Osteolysis of scaphoids, Osteolysis of patellae, Synovitis	OMIM:609655
Bleeding Disorder, Platelet-Type, 17	Prolonged bleeding time, Increased RBC distribution width, Macrothrombocytopenia, Absence of alph...	OMIM:187900
Sweet Syndrome	Acute myeloid leukemia, Predominantly dermal neutrophilic infiltrate, Myositis, Neutrophilia, Acn...	ORPHA:3243
Hermansky-Pudlak Syndrome 2	Prolonged bleeding time, Absent platelet dense granules, Reduced natural killer cell activity, Sp...	OMIM:608233
Netherton Syndrome	Decreased circulating IgG level, Hypereosinophilia, Increased circulating IgE level	OMIM:256500
Barth Syndrome	Dilated cardiomyopathy, Abnormality of neutrophils	ORPHA:111
Immunodeficiency 98 With Autoinflammation, X-Linked	Autoimmune hemolytic anemia, Splenomegaly, Neutropenia, B lymphocytopenia, Bone marrow hypocellul...	OMIM:301078
Shwachman-Diamond Syndrome	Normocytic anemia, Acute myeloid leukemia, Macrocytic anemia, Transient neutropenia, Aplastic ane...	ORPHA:811
Aregenerative Anemia	Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Bone marrow hypocellularity, Pallor, Neutr...	ORPHA:101096
Hyperchlorhidrosis, Isolated	Hyponatremia, Hyperkalemia	OMIM:143860
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Absent specific antibody response, Decreased proportion of CD4+CD25+ regulatory T cells, Autoimmu...	OMIM:619846
Leishmaniasis	Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Skin ulcer, Anemia, Leukopenia, Rhini...	ORPHA:507
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities	Lymphopenia, Eosinophilia, Decreased circulating antibody level	OMIM:617425
Hemophagocytic Lymphohistiocytosis, Familial, 4	Skin rash, Splenomegaly, Anemia, Conjunctivitis, Hemophagocytosis, Neutropenia, Thrombocytopenia	OMIM:603552
Immunodeficiency With Hyper-Igm, Type 1	Sepsis, Decreased circulating IgE, Neutropenia, Decreased circulating IgG level, Meningitis, Hemo...	OMIM:308230
X-Linked Agammaglobulinemia	Recurrent cutaneous abscess formation, Sinusitis, Osteomyelitis, Skin rash, Thrombocytopenia, Rec...	ORPHA:47
Say-Barber-Miller Syndrome	Cryptorchidism, Transient hypogammaglobulinemia of infancy, Abnormal T cell morphology, Decreased...	ORPHA:3132
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Hemolytic anemia, Increased mean platelet volume, Impaired ristocetin-induced platelet aggregatio...	OMIM:153670
Developmental Dysplasia Of The Hip 2	Hip osteoarthritis, Arthritis	OMIM:615612
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Leukocyt...	OMIM:243150
Quebec Platelet Disorder	Thrombocytopenia, Impaired epinephrine-induced platelet aggregation	OMIM:601709
Refractory Anemia	Normocytic anemia, Macrocytic anemia, Anemia of inadequate production, Erythroid hypoplasia, Norm...	ORPHA:98826
Ficolin 3 Deficiency	Recurrent Staphylococcus aureus infections, Recurrent lower respiratory tract infections, Recurre...	OMIM:613860
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Decrease...	OMIM:600802
Immunodeficiency 31A	Herpes simplex encephalitis, Recurrent mycobacterium avium complex infections, BCGitis, Recurrent...	OMIM:614892
Omenn Syndrome	Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Lymphadenopathy, Hypoplas...	OMIM:603554
Immunodeficiency 38 With Basal Ganglia Calcification	Recurrent mycobacterial infections	OMIM:616126
Eosinophilic Fasciitis	Abnormal eosinophil morphology, Eosinophilia	ORPHA:3165
Proximal Myotonic Myopathy	Myotonia	ORPHA:606
Pyoderma Gangrenosum	Myositis, Pustule, Skin ulcer, Inflammation of the large intestine, Increased circulating antibod...	ORPHA:48104
Wiskott-Aldrich Syndrome	Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m...	OMIM:301000
Pontocerebellar Hypoplasia, Type 14	Simplified gyral pattern, Thrombocytopenia, Chronic neutropenia	OMIM:619301
Granulomatous Disease, Chronic, X-Linked	Recurrent Aspergillus infections, Recurrent bacterial skin infections, Liver abscess, Recurrent S...	OMIM:306400
Wells Syndrome	Eosinophilia	ORPHA:901
Angiostrongyliasis	Increased circulating IgA level, Hypereosinophilia, Increased circulating specific IgE antibody, ...	ORPHA:74
Pontocerebellar Hypoplasia, Type 15	Thrombocytopenia, Simplified gyral pattern, Anemia, Chronic neutropenia	OMIM:619302
Esophagitis, Eosinophilic, 2	Eosinophilia	OMIM:613412
Esophagitis, Eosinophilic, 1	Eosinophilia	OMIM:610247
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1	Eosinophilia	OMIM:253600
Immunodeficiency 49	Impaired lymphocyte transformation with phytohemagglutinin, Eosinophilia, T lymphocytopenia, Abno...	OMIM:617237
Paramyotonia Congenita Of Von Eulenburg	Handgrip myotonia, Myotonia of the upper limb, Myotonia, Myotonia of the face, Cold-sensitive myo...	ORPHA:684
Osteoarthritis Susceptibility 1	Hip osteoarthritis	OMIM:165720
Angel-Shaped Phalangoepiphyseal Dysplasia	Hip osteoarthritis, Hyperextensibility of the finger joints, Premature osteoarthritis, Delayed os...	OMIM:105835
Omenn Syndrome	Eosinophilia, Splenomegaly, Leukocytosis, Thyroiditis, Lymphadenopathy, Abnormal lymphocyte morph...	ORPHA:39041
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults	Acute myeloid leukemia, Neutropenia	OMIM:607847
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive	T lymphocytopenia, B lymphocytopenia, Panhypogammaglobulinemia	OMIM:601457
Fanconi Anemia, Complementation Group G	Thrombocytopenia, Leukemia, Anemia, Neutropenia	OMIM:614082
Agammaglobulinemia 8B, Autosomal Recessive	Pancytopenia, Splenomegaly, B Acute Lymphoblastic Leukemia, Decreased proportion of CD8-positive,...	OMIM:619824
Myeloma, Multiple	Paraproteinemia	OMIM:254500
Autosomal Agammaglobulinemia	Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections, Bronchiectasis, Hepatitis, Agamma...	ORPHA:33110
Immunodeficiency 31B	Recurrent mycobacterial infections, Herpes simplex encephalitis, Recurrent viral infections	OMIM:613796
Agammaglobulinemia 9, Autosomal Recessive	Agammaglobulinemia, Thrombocytopenia, Recurrent bacterial infections, Absent circulating B cells	OMIM:619693
Asthma, Short Stature, And Elevated Iga	Increased circulating IgA level	OMIM:208600
Slipped Femoral Capital Epiphyses	Hip osteoarthritis	OMIM:182260
Aspergillosis	Increased circulating IgE level, Eosinophilia, Neutropenia	ORPHA:1163
Immunodeficiency 57 With Autoinflammation	Perianal abscess, Decreased circulating antibody level, T lymphocytopenia, B lymphocytopenia, Par...	OMIM:618108
Immunodeficiency 19	T lymphocytopenia, Abnormal B cell morphology, Abnormal natural killer cell morphology	OMIM:615617
Immunodeficiency, Common Variable, 8, With Autoimmunity	Atrophic gastritis, Uveitis, Inflammation of the large intestine, Colitis, Conjunctivitis, Decrea...	OMIM:614700
Sitosterolemia 1	Reticulocytosis, Hyperapobetalipoproteinemia, Reduced haptoglobin level, Splenomegaly, Elevated c...	OMIM:210250
Normokalemic Periodic Paralysis	Percussion myotonia	OMIM:170600
Eosinophil Peroxidase Deficiency	Eosinophil nuclear hypersegmentation	OMIM:261500
Thrombocytopenia 2	Leukocytosis, Thrombocytopenia	OMIM:188000
Hermansky-Pudlak Syndrome 6	Prolonged bleeding time, Impaired ADP-induced platelet aggregation, Abnormal platelet granules, R...	OMIM:614075
Papa Syndrome	Increased inflammatory response, Myositis, Acne, Pustule, Skin ulcer, Arthritis, Increased circul...	ORPHA:69126
Cystic Echinococcosis	Eosinophilia, Abscess, Abnormality of the testis size, Ovarian cyst, Increased circulating antibo...	ORPHA:400
Congenital Disorder Of Glycosylation, Type Iif	Macrothrombocytopenia, Recurrent bacterial infections, Neutropenia, Decreased platelet glycoprote...	OMIM:603585
Isolated Agammaglobulinemia	Recurrent cutaneous abscess formation, Sinusitis, Skin rash, Pneumonia, Abnormality of neutrophil...	ORPHA:229717
T-Cell Immunodeficiency With Thymic Aplasia	Recurrent infection of the gastrointestinal tract, Recurrent urinary tract infections, Decreased ...	ORPHA:83471
Left Ventricular Noncompaction 7	Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy	OMIM:615092
Cardiomyopathy, Dilated, 1R	Myofiber disarray, Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Left ventricular noncompact...	OMIM:613424
Roifman Syndrome	Splenomegaly, Eosinophilia, Lymphadenopathy	OMIM:616651
Idiopathic Acute Eosinophilic Pneumonia	Abnormal eosinophil morphology	ORPHA:724
Bleeding Disorder, Platelet-Type, 12	Impaired platelet aggregation	OMIM:605735
Glutathione Synthetase Deficiency	Hemolytic anemia, Neutropenia	OMIM:266130
Thrombocytopenia 5	Petechiae, B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia...	OMIM:616216
Hemochromatosis, Type 3	Arthritis, Neutropenia, Lymphopenia, Anemia, Purpura	OMIM:604250
Focal Facial Dermal Dysplasia Type Iv	Abnormal mast cell morphology	ORPHA:398189
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy	Hyponatremia, Hypokalemia, Hypocalcemia, Hypomagnesemia	OMIM:620152
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation	Herpes simplex encephalitis, Increased circulating IgE level, Recurrent infections, Hepatosplenom...	OMIM:618982
Ataxia-Telangiectasia	Decreased circulating IgG level, Lymphopenia, Diabetes mellitus, Female hypogonadism, Acute lymph...	OMIM:208900
Immunodeficiency 85 And Autoimmunity	Lymphopenia, Decreased circulating total IgM, T lymphocytopenia, Decreased circulating IgE, Decre...	OMIM:619510
Immunodeficiency 70	Decreased circulating total IgG, Decreased circulating antibody level, Decreased circulating tota...	OMIM:618969
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Splenomegaly, Hepatosplenomegaly, Abnormal natural killer cell physiology, Decreased circulating ...	OMIM:613101
Ectodermal Dysplasia And Immunodeficiency 1	Dysgammaglobulinemia, Reduced natural killer cell activity, Increased circulating IgA level, Seve...	OMIM:300291
Chediak-Higashi Syndrome	Impaired neutrophil bactericidal activity, Thrombocytopenia, Splenomegaly, Neutropenia, Lymphaden...	OMIM:214500
Hermansky-Pudlak Syndrome 7	Prolonged bleeding time, Impaired platelet aggregation	OMIM:614076
Purine Nucleoside Phosphorylase Deficiency	Autoimmune hemolytic anemia, Recurrent urinary tract infections, Impaired T cell function, Pure r...	OMIM:613179
Von Willebrand Disease, Type 1	Prolonged bleeding time, Aortic valve stenosis, Impaired platelet aggregation, Mitral valve prolapse	OMIM:193400
Igg4-Related Submandibular Gland Disease	Eosinophilia, Increased circulating IgG4 level, Abnormality of the thyroid gland, Increased circu...	ORPHA:449432
Autosomal Dominant Hyper-Ige Syndrome	Increased circulating IgE level, Eosinophilia	ORPHA:2314
Alpha-Thalassemia-Myelodysplastic Syndrome	Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia	ORPHA:231401
Immunoglobulin A Deficiency 1	Decreased circulating IgA level	OMIM:137100
Leukocyte Adhesion Deficiency	Acute myeloid leukemia, Chronic oral candidiasis, Recurrent urinary tract infections, Recurrent s...	ORPHA:2968
Autoinflammation, Immune Dysregulation, And Eosinophilia	Hypothyroidism, Eosinophilia, Hepatosplenomegaly	OMIM:618999
Hermansky-Pudlak Syndrome 5	Prolonged bleeding time, Absent platelet dense granules, Impaired ADP-induced platelet aggregatio...	OMIM:614074
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne	Pancytopenia, Acne, Thrombocytosis, Microcytic anemia, Pyoderma gangrenosum, Sterile arthritis, H...	OMIM:604416
Specific Granule Deficiency 2	Absent neutrophil specific granules, Recurrent pneumonia, Sepsis, Anemia, Recurrent bacterial inf...	OMIM:617475
Liddle Syndrome 2	Hypokalemia, Decreased circulating renin level	OMIM:618114
Liddle Syndrome 3	Hypokalemia, Decreased circulating renin level	OMIM:618126
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Absent natural killer ce...	ORPHA:35078
Ataxia-Pancytopenia Syndrome	Pancytopenia, Acute myelomonocytic leukemia, Anemia, Neutropenia, Hypoplastic anemia, Thrombocyto...	OMIM:159550
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy	Hypokalemia, Increased serum prostaglandin E2, Increased circulating renin level, Abnormal magnes...	OMIM:241150
Anemia, Sideroblastic, 5	Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia	OMIM:619523
Folate Malabsorption, Hereditary	Leukopenia, Folate-responsive megaloblastic anemia, Thrombocytopenia, Neutropenia	OMIM:229050
Multicentric Reticulohistiocytosis	Arthritis, Histiocytosis	ORPHA:139436
Lymphoproliferative Syndrome, X-Linked, 2	Pancytopenia, Acne, Recurrent skin infections, Aplastic anemia, Erythema nodosum, Splenomegaly, H...	OMIM:300635
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive	Anemia, Leukocytosis, Ulcerative colitis	OMIM:619398
Myotonia Congenita, Autosomal Recessive	Percussion myotonia, Myotonia with warm-up phenomenon, Myotonia, EMG: myotonic runs	OMIM:255700
Aggressive Systemic Mastocytosis	Pancytopenia, Hypersplenism, Thrombocytopenia, Leukocytosis, Hepatosplenomegaly, Lymphadenopathy,...	ORPHA:98850
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Acute myeloid leukemia, Pancytopenia, Thrombocytopenia, Splenomegaly, Hepatosplenomegaly, Acute l...	ORPHA:158057
Eosinophilic Gastroenteritis	Leukocytosis, Eosinophilia, Anemia	ORPHA:2070
Deafness, Neural, With Atypical Atopic Dermatitis	Increased circulating IgE level	OMIM:221700
Hypoparathyroidism, Familial Isolated, 2	Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures	OMIM:618883
Immunodeficiency 42	Splenomegaly, Hypoplasia of the thymus	OMIM:616622
Bone Marrow Failure Syndrome 6	Persistence of hemoglobin F, Increased mean corpuscular volume, Bone marrow hypocellularity, Recu...	OMIM:618849
Acute Generalized Exanthematous Pustulosis	Predominantly dermal neutrophilic infiltrate, Neutrophilia, Eosinophilia, Pustule, Leukocytosis, ...	ORPHA:293173
Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome	Arthropathy, Generalized morning stiffness, Arthritis, Congenital finger flexion contractures, Co...	OMIM:208250
Immunodeficiency 96	Increased proportion of gamma-delta T cells, Decreased circulating total IgM, Defective T cell pr...	OMIM:619774
Proteasome-Associated Autoinflammatory Syndrome 2	Increased CD4:CD8 ratio, Increased circulating IgA level, Abnormal circulating IgM level, Recurre...	OMIM:618048
Classic Mycosis Fungoides	Skin rash, Eczema, Splenomegaly, Erythema, Skin ulcer, Dry skin, Abnormal lymphocyte morphology	ORPHA:2584
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Atrophic gastritis, Psoriasiform dermatitis, Autoimmune hemolytic anemia, Eczema, Pneumonia, Pure...	ORPHA:436159
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak	Hyperkalemia	OMIM:609153
Obesity Due To Congenital Leptin Deficiency	Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse...	ORPHA:66628
Myopathy, Granulovacuolar Lobular, With Electrical Myotonia	Myotonia	OMIM:254950
Systemic Lupus Erythematosus	Hemolytic anemia, Pericarditis, Antiphospholipid antibody positivity, Lupus nephritis, Antinuclea...	OMIM:152700
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome	Iron deficiency anemia, Thrombocytopenia, Increased mean platelet volume, Neutropenia	ORPHA:494444
Mu-Heavy Chain Disease	Abnormal B cell count, Splenomegaly, Weight loss, Increased circulating antibody level, Anemia	ORPHA:100024
Obesity Due To Leptin Receptor Gene Deficiency	Decreased serum testosterone concentration, Hypergonadotropic hypogonadism, Decreased serum lepti...	ORPHA:179494
Agammaglobulinemia, X-Linked	T lymphocytopenia, Conjunctivitis, Decreased circulating IgE, Neutropenia, Decreased circulating ...	OMIM:300755
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency	Tegumentary leishmaniasis susceptibility, Recurrent mycobacterial infections, BCGosis, Coccidioid...	ORPHA:319552
Deafness-Lymphedema-Leukemia Syndrome	Prolonged bleeding time, Recurrent respiratory infections, Abnormal neutrophil count, Splenomegal...	ORPHA:3226
Alveolar Echinococcosis	Liver abscess, Eosinophilia, Pancreatic cysts, Abnormal spleen morphology, Increased circulating ...	ORPHA:284
Complement Component 3 Deficiency, Autosomal Recessive	Recurrent bacterial infections, Recurrent pneumonia, Recurrent tonsillitis	OMIM:613779
Immunodeficiency 27A	Increased inflammatory response, Pneumonia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Incre...	OMIM:209950
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Intermittent thrombocytopenia, Perianal abscess, Erythroid hypoplasia, Thrombocytopenia, Splenome...	OMIM:612541
Cyclic Neutropenia	Cyclic neutropenia, Perianal abscess, Cervical lymphadenopathy, Recurrent tonsillitis, Lymphadeno...	ORPHA:2686
Dracunculiasis	Recurrent cutaneous abscess formation, Skin rash, Skin ulcer, Arthritis	ORPHA:231
Hypokalemic Periodic Paralysis, Type 1	Hypokalemia	OMIM:170400
Immunoglobulin Kappa Light Chain Deficiency	Abnormal immunoglobulin level	OMIM:614102
Immunodeficiency 13	Lymphopenia, Recurrent shingles, Recurrent upper respiratory tract infections, Recurrent pneumoni...	OMIM:615518
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets	Decreased circulating 12-HETE, Iron deficiency anemia, Decreased serum thromboxane B2, Impaired p...	OMIM:618372
Immunodeficiency 76	Splenomegaly, Lymphadenopathy, T lymphocytopenia, B lymphocytopenia, Lymphopenia	OMIM:619164
Igg4-Related Pachymeningitis	Lymphadenitis, Parotitis, Eosinophilia, Increased circulating IgG4 level	ORPHA:449427
Fanconi Anemia, Complementation Group V	Anemia, Bone marrow hypocellularity, Thrombocytopenia, Neutropenia	OMIM:617243
Immunodeficiency 12	Abnormal lymphocyte count, Recurrent viral infections, Recurrent bacterial infections, Absent iso...	OMIM:615468
Mantle Cell Lymphoma	Splenomegaly, Weight loss	ORPHA:52416
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Lymphopenia, Decreased proportion of CD8-positive T cells, Increased circulating IgE level, Hyper...	ORPHA:508533
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Neutrophilia, Increased circulating IgA level, Leukocytosis, Lymphadenopathy, Increased circulati...	OMIM:617099
Felty Syndrome	Episcleritis, Pericarditis, Sinusitis, Thrombocytopenia, Splenomegaly, Recurrent pneumonia, Synov...	ORPHA:47612
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
Neutrophilic Dermatosis, Acute Febrile	Increased circulating interleukin 6 concentration, Erythema, Pyoderma gangrenosum, Panniculitis, ...	OMIM:608068
Cutaneous Mastocytosis, Conductive Hearing Loss And Microtia	Cutaneous mastocytosis	OMIM:248910
Bullous Diffuse Cutaneous Mastocytosis	Cutaneous mastocytosis	ORPHA:280785
Mgat2-Cdg	Decreased circulating IgG level, Impaired lymphocyte transformation with phytohemagglutinin, Decr...	ORPHA:79329
Idiopathic Aplastic Anemia	Pancytopenia, Thrombocytopenia, Reticulocytopenia, Bone marrow hypocellularity, Neutropenia, Ecch...	ORPHA:88
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Hemolytic anemia, Autoimmune hemolytic anemia, Recurrent respiratory infections, Decreased propor...	OMIM:606367
Paramyotonia Congenita	Percussion myotonia, Handgrip myotonia, Paradoxical myotonia	OMIM:168300
Hyperkalemic Periodic Paralysis	Hyperkalemia	OMIM:170500
Myeloproliferative Syndrome, Transient	Leukocytosis, Transient myeloproliferative syndrome	OMIM:159595
Liddle Syndrome 1	Hypokalemia, Decreased circulating renin level	OMIM:177200
Chédiak-Higashi Syndrome	Abnormal leukocyte morphology, Recurrent bacterial skin infections, Pancytopenia, Recurrent respi...	ORPHA:167
Slc35A1-Cdg	Pneumonia, Giant platelets, Neutropenia, Abnormal platelet granules, Thrombocytopenia	ORPHA:238459
Diamond-Blackfan Anemia 8	Macrocytic anemia, Increased mean corpuscular volume, Neutropenia	OMIM:612563
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy	T lymphocytopenia, Decreased helper T cell proportion	OMIM:601705
Hypocalcemia, Autosomal Dominant 1	Hypokalemia, Hyperphosphatemia, Increased circulating renin level, Hypocalcemia, Hypomagnesemia	OMIM:601198
Transcobalamin Ii Deficiency	Macrocytic anemia, Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Decreased circulating t...	OMIM:275350
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Recurrent respiratory infections, Recurrent urinary tract infections, Autoimmune hemolytic anemia...	OMIM:618495
Letterer-Siwe Disease	Seborrheic dermatitis, Thrombocytopenia, Hepatosplenomegaly, Pallor, Neutropenia, Stomatitis, Anemia	OMIM:246400
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia	Recurrent urinary tract infections, Enteroviral dermatomyositis syndrome, Recurrent enteroviral i...	OMIM:307200
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level	OMIM:300861
Hermansky-Pudlak Syndrome 11	Impaired collagen-induced platelet aggregation, Reduced platelet dense granules	OMIM:619172
Spinocerebellar Ataxia, Autosomal Recessive 23	Neutropenia	OMIM:616949
Immunodeficiency 60 And Autoimmunity	Pancytopenia, Splenomegaly, Decreased circulating total IgM, Decreased circulating IgE, Decreased...	OMIM:618394
Leukocyte Adhesion Deficiency, Type Iii	Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Sepsis, Hepatosplenomegaly, Recurrent b...	OMIM:612840
Familial Calcium Pyrophosphate Deposition	Joint dislocation, Osteoarthritis, Limitation of joint mobility, Arthritis, Joint swelling, Chond...	ORPHA:1416
Wolfram Syndrome, Mitochondrial Form	Sideroblastic anemia, Neutropenia, Thrombocytopenia, Megaloblastic anemia	OMIM:598500
Pelger-Huet Anomaly	Eczema, Abnormality of neutrophils, Hyposegmentation of neutrophil nuclei, Giant platelets, Neutr...	OMIM:169400
Drug Reaction With Eosinophilia And Systemic Symptoms	Eosinophilia, Lymphocytosis, Thyroiditis, Lymphadenopathy	ORPHA:139402
Immunodeficiency 92	Osteomyelitis, Pneumonia, Cholangitis, Leukocytosis, Decreased proportion of class-switched memor...	OMIM:619652
Imerslund-Gräsbeck Syndrome	Reticulocytosis, Macrocytic anemia, Pancytopenia, Angular cheilitis, Megaloblastic anemia, Anisop...	ORPHA:35858
Primary Intestinal Lymphangiectasia	Hypoproteinemia, Lymphopenia, Cryptococcal meningitis, Decreased circulating antibody level, Weig...	ORPHA:90362
Liddle Syndrome	Hypokalemia	ORPHA:526
Muscular Dystrophy, Barnes Type	Myotonia	OMIM:158800
Griscelli Syndrome Type 2	Pancytopenia, Splenomegaly, Hemophagocytosis, Neutropenia, Petechiae	ORPHA:79477
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Thrombocytopenia, Pancreatitis, Anemia, Neutropenia	ORPHA:289916
Immunodeficiency 66	Defective T cell proliferation, Meningitis, Sepsis	OMIM:618847
Idiopathic Achalasia	Decreased prealbumin level, Weight loss	ORPHA:930
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction	Myofiber disarray, Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Left ventricular noncompact...	OMIM:612158
Renal Tubular Acidosis, Distal, 1	Hypokalemia, Elevated circulating creatinine concentration, Hypocalcemia	OMIM:179800
Loeffler Endocarditis	Eosinophilia	ORPHA:75566
Tuberculosis	Weight loss	ORPHA:3389
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Splenomegaly, Anemia, Neutropenia, Pancreatitis, Thrombocytopenia	ORPHA:79312
Hemophagocytic Syndrome Associated With An Infection	Pancytopenia, Splenomegaly, Abnormal T cell subset distribution, Abnormal cytokine signaling, Ane...	ORPHA:158048
Prolidase Deficiency	Petechiae, Eczema, Thrombocytopenia, Splenomegaly, Recurrent pneumonia, Crusting erythematous der...	OMIM:170100
Fusariosis	Brain abscess, Fasciitis, Sinusitis, Maculopapular exanthema, Myositis, Pneumonia, Osteomyelitis,...	ORPHA:228119
Diamond-Blackfan Anemia 4	Erythroid hypoplasia, Macrocytic anemia, Reticulocytopenia, Neutropenia	OMIM:612527
Vulvovaginal Gingival Syndrome	Erythema, Abnormality of tumor necrosis factor secretion	ORPHA:83453
Allergic Bronchopulmonary Aspergillosis	Abnormal eosinophil morphology	ORPHA:1164
Lymphoproliferative Syndrome 1	Pancytopenia, Autoimmune hemolytic anemia, Elevated circulating C-reactive protein concentration,...	OMIM:613011
Bartter Syndrome, Type 5, Antenatal, Transient	Hyponatremia, Hypokalemia, Increased circulating renin level, Hypochloremia	OMIM:300971
Orotic Aciduria	Impaired T cell function, Anisocytosis, Folate-unresponsive megaloblastic anemia, Pyrimidine-resp...	OMIM:258900
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency	Recurrent respiratory infections, Recurrent herpes, Liver abscess, Recurrent urinary tract infect...	ORPHA:183675
Hypomagnesemia 2, Renal	Hypokalemia, Hypomagnesemia	OMIM:154020
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Anemia, Gout, Neutropenia	OMIM:617056
Immunodeficiency 10	Recurrent bacterial infections, Autoimmune hemolytic anemia, Thrombocytopenia, Recurrent infections	OMIM:612783
Wolfram Syndrome 2	Impaired collagen-induced platelet aggregation, Decreased circulating antibody level	OMIM:604928
Insulin Autoimmune Syndrome	Increased circulating antibody level, Weight loss	ORPHA:411593
Leukocyte Adhesion Deficiency, Type I	Recurrent gram-negative bacterial infections, Recurrent staphylococcal infections, Leukocytosis, ...	OMIM:116920
Acute Promyelocytic Leukemia	Pancytopenia, Petechiae, Thrombocytopenia, Leukocytosis, Leukopenia, Neutropenia, Stomatitis, Ecc...	ORPHA:520
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2	Thrombocytopenia, Congenital thrombocytopenia, Anemia, Neutropenia	OMIM:616738
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)	T lymphocytopenia	DECIPHER:16
Immunodeficiency 22	Failure to thrive, Abscess, Recurrent upper respiratory tract infections, Anemia, Decreased circu...	OMIM:615758
Chilblain Lupus 1	Chilblains, Skin ulcer	OMIM:610448
Complement Factor H Deficiency	Recurrent bacterial infections	OMIM:609814
Late-Onset Isolated Acth Deficiency	Normocytic anemia, Hypoparathyroidism, Macrocytic anemia, Decreased circulating cortisol level, E...	ORPHA:199299
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Myositis, Tubulointerstitial nephritis, Iron deficiency anemia, Colitis, Neutropenia, Psoriasifor...	ORPHA:37042
Pseudohypoaldosteronism, Type Iib	Hyperchloremia, Hyperkalemia	OMIM:614491
Pseudohypoaldosteronism, Type Iid	Hyperchloremia, Hyperkalemia	OMIM:614495
Schnitzler Syndrome	Skin rash, Splenomegaly, Leukocytosis, Arthritis, Increased circulating IgM level, Anemia	ORPHA:37748
Combined Immunodeficiency Due To Crac Channel Dysfunction	Hemolytic anemia, Recurrent viral infections, Splenomegaly, Recurrent mycobacterial infections, S...	ORPHA:169090
Complement Factor B Deficiency	Recurrent bacterial infections, Meningitis, Recurrent meningococcal disease	OMIM:615561
Hemangioma-Thrombocytopenia Syndrome	Hyperkalemia	OMIM:141000
Congenital Enterovirus Infection	Abnormal macrophage morphology, Skin rash, Myocarditis, Leukocytosis, Thrombocytopenia, Hepatitis...	ORPHA:292
Systemic Lupus Erythematosus, Susceptibility To, 6	Pericarditis, Antinuclear antibody positivity, Systemic lupus erythematosus, Arthritis, Malar rash	OMIM:609939
Sjogren Syndrome	Tubulointerstitial nephritis, Keratoconjunctivitis sicca, Autoimmunity, Rheumatoid arthritis	OMIM:270150
Pneumocystosis	Increased circulating antibody level, Abnormal neutrophil count	ORPHA:723
Whim Syndrome	Sinusitis, Severe periodontitis, Pneumonia, Lymphadenitis, Recurrent pneumonia, Bronchiectasis, A...	ORPHA:51636
Subcutaneous Panniculitis-Like T-Cell Lymphoma	Panniculitis, Hemophagocytosis, Skin ulcer, Hepatosplenomegaly	ORPHA:86884
Immunodeficiency 55	Absent natural killer cells, Recurrent skin infections, Eczema, Dry skin, Neutropenia, Lymphopenia	OMIM:617827
Interstitial Granulomatous Dermatitis With Arthritis	Inflammatory abnormality of the skin, Rheumatoid factor positive, Rheumatoid arthritis	ORPHA:79099
Neutropenia, Severe Congenital, 8, Autosomal Dominant	Neutropenia	OMIM:618752
Subcorneal Pustular Dermatosis	Autoimmunity, Pustule, Systemic lupus erythematosus, Increased circulating antibody level, Rheuma...	ORPHA:48377
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive	Hyponatremia, Hyperkalemia, Increased circulating renin level	OMIM:620126
Hereditary Orotic Aciduria	Splenomegaly, Impaired T cell function, Anemia	ORPHA:30
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ...	ORPHA:231154
Igg4-Related Ophthalmic Disease	Eosinophilia, Increased circulating IgG4 level, Orchitis, Abnormality of the anterior pituitary, ...	ORPHA:449563
Beta-Thalassemia	Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Hepatitis, Skin ulcer, Anemia, Pallor, Thro...	ORPHA:848
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive	Hyponatremia, Hyperkalemia, Increased circulating renin level	OMIM:620125
Wiskott-Aldrich Syndrome	Prolonged bleeding time, Recurrent respiratory infections, Abnormal eosinophil morphology, Hemoly...	ORPHA:906
Syndromic Diarrhea	Increased mean platelet volume, Splenomegaly, Hypothyroidism, Hypoplasia of the thymus, Thrombocy...	ORPHA:84064
Neonatal Lupus Erythematosus	Hemolytic anemia, Pancytopenia, Skin rash, Aplastic anemia, Maculopapular exanthema, Thrombocytop...	ORPHA:398124
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2	Decreased circulating antibody level, Decreased circulating total IgM, B lymphocytopenia, Decreas...	OMIM:614069
Autoimmune Disease, Multisystem, Infantile-Onset, 1	Autoimmune hemolytic anemia, Eczema, Autoimmune thrombocytopenia, Neutropenia in presence of anti...	OMIM:615952
Juvenile Arthritis	Thrombocytosis, Leukocytosis, Skin rash	OMIM:618795
Immunodeficiency 69	Pancytopenia, Skin rash, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Anemia	OMIM:618963
Immunodeficiency 37	Decreased proportion of central memory CD4-positive, alpha-beta T cells, Decreased circulating an...	OMIM:616098
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature	Decreased circulating total IgM	OMIM:615139
Pseudohypoaldosteronism, Type Iia	Hyperkalemia	OMIM:145260
Brody Disease	Percussion myotonia, Myotonia	OMIM:601003
Tularemia	Brain abscess, Skin rash, Pneumonia, Erythema nodosum, Thrombocytopenia, Leukocytosis, Conjunctiv...	ORPHA:3392
Sepsis In Premature Infants	Increased circulating interleukin 6 concentration, Petechiae, Splenomegaly, Leukocytosis, Enteroc...	ORPHA:90051
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Eczema, Thrombocytopenia, Reticulocytopenia, Dry skin, Leukopenia, Panniculitis, B lymphocytopeni...	ORPHA:508542
Coccidioidomycosis	Abscess, Eosinophilia, Abnormality of the endocrine system, Abnormality of the spleen, Mediastina...	ORPHA:228123
Adult Acute Respiratory Distress Syndrome	Increased circulating interleukin 6 concentration, Pneumonia, Abnormal circulating interleukin co...	ORPHA:70578
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Pancytopenia, Abnormal lymphocyte count, Absence of lymph node germinal center, Thrombocytopenia,...	ORPHA:79124
Psoriasis 1, Susceptibility To	Arthritis, Psoriasiform dermatitis	OMIM:177900
Immunodeficiency 40	T lymphocytopenia, Thrombocytopenia, Reduced antigen-specific T cell proliferation, Eosinophilic ...	OMIM:616433
Neonatal Alloimmune Neutropenia	Neutropenia in presence of anti-neutropil antibodies, Pneumonia	ORPHA:464370
Evans Syndrome	Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Neutropenia in presence of anti-neutrop...	ORPHA:1959
Trichothiodystrophy 3, Photosensitive	Lymphopenia, Neutropenia, Increased circulating IgA level	OMIM:616395
Mitochondrial Complex I Deficiency, Nuclear Type 33	Simplified gyral pattern, Bronchiectasis, Aspiration pneumonia, Neutropenia	OMIM:618253
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy	Perianal abscess, Leukocytosis, Increased circulating IgE level, Increased circulating IgG level,...	OMIM:618213
Bernard-Soulier Syndrome	Giant platelets, Decreased platelet glycoprotein Ib-IX-V, Macrothrombocytopenia, Impaired ristoce...	ORPHA:274
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Lymphopenia, Autoimmune hemolytic anemia, Atrophic gastritis, Psoriasiform dermatitis, Eczema, Au...	OMIM:616100
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Impaired Intellectual Development	Hypokalemia, Hyperamylasemia	OMIM:604278
Non-Epidermolytic Palmoplantar Keratoderma	Erythema, Skin ulcer	ORPHA:2337
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency	Anemia, Bone marrow hypocellularity, Neutropenia, Polymicrogyria, Thrombocytopenia	OMIM:614520
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Increased circulating IgM level, Reduced natural killer cell count, T lymphocytopenia, Decreased ...	OMIM:242860
Isolated Congenital Hypoglossia/Aglossia	Weight loss	ORPHA:141152
Acute Lung Injury	Acute pancreatitis, Increased circulating interleukin 6 concentration, Pneumonia, Abnormality of ...	ORPHA:178320
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia	Splenomegaly, Leukocytosis, Decreased circulating antibody level	OMIM:618042
Epilepsy-Telangiectasia Syndrome	Decreased circulating IgA level, Decreased circulating antibody level	ORPHA:1951
Renal Tubular Acidosis Iii	Hypokalemia	OMIM:267200
Myotonia Fluctuans	Handgrip myotonia, Myotonia of the upper limb, Myotonia of the lower limb, Cold-sensitive myotoni...	ORPHA:99734
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2	Hypokalemia, Hypomagnesemia	OMIM:618314
Acute Radiation Syndrome	Inflammatory abnormality of the skin, Skin ulcer, Interstitial pneumonitis, Granulocytopenia, Sca...	ORPHA:454831
Propionic Acidemia	Pancytopenia, Eczema, Anemia, Neutropenia, Pancreatitis, Thrombocytopenia	OMIM:606054
Myotonia, Potassium-Aggravated	Percussion myotonia, Handgrip myotonia, Myotonia	OMIM:608390
Immunodeficiency 27B	Recurrent mycobacterial infections, Recurrent mycobacterium avium complex infections	OMIM:615978
Panniculitis-Induced Localized Lipodystrophy	Abnormal immunoglobulin level	ORPHA:90159
Apparent Mineralocorticoid Excess	Hypokalemia, Decreased circulating renin level	OMIM:218030
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Tubulointerstitial nephritis, Leukopenia, Neutropenia, Pancreatitis, Thrombocytopenia	OMIM:251000
Developmental And Epileptic Encephalopathy 66	Anemia, Neutropenia	OMIM:618067
Oligoarticular Juvenile Idiopathic Arthritis	Autoimmunity, Antinuclear antibody positivity, Knee osteoarthritis, Oligoarthritis, Uveitis, Abno...	ORPHA:85410
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Pancytopenia, Skin rash, Eczema, Erythema nodosum, Splenomegaly, Leukocytosis, Skin ulcer, Decrea...	OMIM:615688
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia	Foot osteomyelitis, Acral ulceration, Skin ulcer	ORPHA:139578
Thrombocytopenia-Absent Radius Syndrome	Eosinophilia, Pancreatic cysts, Leukocytosis, Hepatosplenomegaly, Anemia, Decreased circulating a...	OMIM:274000
Immunodeficiency 43	Lung abscess, Decreased specific antibody response to polysaccharide vaccine, Abnormal circulatin...	OMIM:241600
Schimke Immunoosseous Dysplasia	Pancytopenia, Abnormal immunoglobulin level, Thrombocytopenia, Abnormal T cell morphology, Decrea...	OMIM:242900
Dermatofibrosarcoma Protuberans	Erythema, Skin ulcer	ORPHA:31112
Thyrotoxic Periodic Paralysis, Susceptibility To, 1	Hypokalemia	OMIM:188580
Congenital Disorder Of Glycosylation, Type Iil	Pancytopenia, Impaired T cell function, Abnormal cortical gyration, Splenomegaly, Decreased speci...	OMIM:614576
Mucopolysaccharidosis-Plus Syndrome	Thrombocytopenia, Splenomegaly, Recurrent pneumonia, Increased circulating IgM level, Leukopenia,...	OMIM:617303
Hyper-Igd Syndrome	Neutrophilia, Increased circulating IgA level, Splenomegaly, Leukocytosis, Lymphadenitis, Hepatos...	OMIM:260920
Immunodeficiency 9	Hypoplasia of the thymus	OMIM:612782
Malignant Hyperthermia, Susceptibility To, 2	Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration	OMIM:154275
Immunodeficiency 68	Recurrent skin infections, Abscess, Lymphadenitis, T lymphocytopenia, B lymphocytopenia, Septic a...	OMIM:612260
Eosinophilic Granulomatosis With Polyangiitis	Eosinophilia	ORPHA:183
Psoriasis 14, Pustular	Neutrophilia, Psoriasiform dermatitis, Cholangitis, Pustule, Leukocytosis, Erythema, Oligoarthritis	OMIM:614204
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss	Hypokalemia	OMIM:602722
Schimke Immuno-Osseous Dysplasia	Impaired T cell function, Abnormality of thyroid physiology, Abnormal lymphocyte physiology, Thro...	ORPHA:1830
Pfapa Syndrome	Splenomegaly, Recurrent pharyngitis, Infectious encephalitis, Weight loss	ORPHA:42642
Hermansky-Pudlak Syndrome 8	Impaired platelet aggregation	OMIM:614077
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Lymphopenia, Splenomegaly, Leukopenia, Decreased circulating total IgM, Decreased circulating IgG...	OMIM:620210
Chronic Granulomatous Disease	Sinusitis, Liver abscess, Eczema, Abnormality of neutrophils, Splenomegaly, Skin ulcer, Otitis me...	ORPHA:379
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness	Recurrent bronchitis, Recurrent Haemophilus influenzae infections	OMIM:300455
Idiopathic Hypereosinophilic Syndrome	Neutrophilia, Generalized lymphadenopathy, Eosinophilia, Thrombocytopenia, Leukocytosis, Splenome...	ORPHA:3260
Proliferating Trichilemmal Cyst	Skin ulcer	ORPHA:492
Immunodeficiency 26 With Or Without Neurologic Abnormalities	Simplified gyral pattern, T lymphocytopenia, B lymphocytopenia, Pachygyria, Abnormal natural kill...	OMIM:615966
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia	Decreased circulating IgA level, Decreased circulating antibody level	OMIM:617744
Adult-Onset Still Disease	Pericarditis, Neutrophilia, Skin rash, Myocarditis, Leukocytosis, Splenomegaly, Erythema, Hepatit...	ORPHA:829
Developmental Delay, Hypotonia, And Impaired Language	Recurrent pneumonia, Neutropenia	OMIM:620012
Diamond-Blackfan Anemia 11	Bone marrow hypocellularity, Anemia of inadequate production, Neutropenia	OMIM:614900
Systemic-Onset Juvenile Idiopathic Arthritis	Anterior uveitis, Pericarditis, Skin rash, Autoimmunity, Splenomegaly, Joint swelling, Juvenile r...	ORPHA:85414
Pseudohypoaldosteronism, Type Iie	Hyperchloremia, Hyperkalemia	OMIM:614496
Mucoepithelial Dysplasia, Hereditary	Eosinophilia	OMIM:158310
Laryngeal Neuroendocrine Tumor	Elevated carcinoembryonic antigen level, Weight loss	ORPHA:100083
Pemphigus Vulgaris	Recurrent cutaneous abscess formation, Weight loss, Recurrent infections	ORPHA:704
Igg4-Related Kidney Disease	Eosinophilia, Increased circulating IgG4 level, Lymphadenitis, Increased circulating IgE level, A...	ORPHA:449395
Lymphatic Filariasis	Orchitis, Lymphadenitis, Abnormality of the lymphatic system, Hypereosinophilia, Vaginal hydrocel...	ORPHA:2035
Galactose Epimerase Deficiency	Splenomegaly, Weight loss	ORPHA:79238
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Brain abscess, Neutrophilia, Liver abscess, Abnormality of the lymphatic system, Abnormal lymph n...	ORPHA:54251
Secondary Non-Traumatic Avascular Necrosis	Limitation of joint mobility, Autoimmunity, Rheumatoid arthritis, Systemic lupus erythematosus	ORPHA:399180
Incontinentia Pigmenti	Eosinophilia, Supernumerary nipple, Leukocytosis, Breast aplasia, Hypoplastic nipples, Breast hyp...	OMIM:308300
Poikiloderma With Neutropenia	Skin rash, Splenomegaly, Recurrent pneumonia, Leukopenia, Conjunctivitis, Recurrent sinusitis, Ne...	OMIM:604173
Congenital Factor Xii Deficiency	Penetrating foot ulcers	ORPHA:330
Onychotrichodysplasia And Neutropenia	Lymphocytosis, Chronic irritative conjunctivitis, Chronic neutropenia, Neutropenia	OMIM:258360
Rhabdoid Tumor	Anemia, Hypercalcemia, Thrombocytopenia, Weight loss	ORPHA:69077
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency	Myotonia	ORPHA:371
Hyperkalemic Periodic Paralysis	Hyponatremia, Hypokalemia, Hyperkalemia, Elevated circulating creatine kinase concentration	ORPHA:682
Progressive Multifocal Leukoencephalopathy	Decreased proportion of CD8-positive T cells, Meningitis, Abnormal proportion of CD4-positive T c...	ORPHA:217260
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	Chronic oral candidiasis, Recurrent urinary tract infections, Recurrent ear infections, Recurrent...	ORPHA:221139
Thyrotoxic Periodic Paralysis, Susceptibility To, 2	Hypokalemia	OMIM:613239
Huntington Disease-Like 2	Weight loss	ORPHA:98934
Dyskeratosis Congenita, Autosomal Dominant 2	Pancytopenia, Aplastic anemia, Leukopenia, Bone marrow hypocellularity, Neutropenia, Thrombocytop...	OMIM:613989
Fanconi Anemia, Complementation Group I	Pallor, Bone marrow hypocellularity, Neutropenia	OMIM:609053
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis	Ankle swelling, Joint stiffness, Antinuclear antibody positivity, Iridocyclitis, Knee osteoarthri...	ORPHA:85408
Intestinal Dysmotility Syndrome	Failure to thrive, Weight loss	OMIM:620045
Acitretin/Etretinate Embryopathy	Hypoplasia of the thymus	ORPHA:40366
Malignant Hyperthermia, Susceptibility To, 3	Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration	OMIM:154276
Takayasu Arteritis	Increased inflammatory response, Skin ulcer, Arthritis, Inflammatory abnormality of the eye, Anemia	ORPHA:3287
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Impaired T cell function, Splenomegaly, Hypogonadism, Decreased serum testosterone concentration,...	OMIM:201100
Unclassified Myelodysplastic Syndrome	Acute myeloid leukemia, Leukocytosis, Bone marrow hypocellularity	ORPHA:98827
Gamma-Heavy Chain Disease	Autoimmune hemolytic anemia, Skin rash, Autoimmunity, Autoimmune thrombocytopenia, Splenomegaly, ...	ORPHA:100026
Corticosteroid-Binding Globulin Deficiency	Hypokalemia	OMIM:611489
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Normochromic anemia, Thrombocytopenia, Neutropenia	OMIM:614857
Hypokalemic Periodic Paralysis	Episodic hypokalemia, Mildly elevated creatine kinase	ORPHA:681
3-Methylglutaconic Aciduria, Type Viia	Anisopoikilocytosis, Anemia, Neutropenia	OMIM:619835
Hyperaldosteronism, Familial, Type Iii	Hypokalemia, Decreased circulating renin level	OMIM:613677
Undifferentiated Pleomorphic Sarcoma	Weight loss	ORPHA:2023
Autoinflammation, Antibody Deficiency, And Immune Dysregulation	Decreased circulating total IgM, Decreased circulating IgA level, Decreased proportion of class-s...	OMIM:614878
Necrotizing Enterocolitis	Leukocytosis, Peritonitis, Thrombocytopenia, Neutropenia	ORPHA:391673
Refractory Celiac Disease	Normocytic anemia, Macrocytic anemia, Microcytic anemia, Increased proportion of HLA DR+ T cells,...	ORPHA:398063
Neuronal Intestinal Pseudoobstruction	Decreased circulating antibody level	ORPHA:99811
Autoerythrocyte Sensitization Syndrome	Abnormal erythrocyte morphology, Thrombocytosis, Impaired platelet adhesion, Autoimmune thrombocy...	ORPHA:324636
Ollier Disease	Skin ulcer, Anemia	ORPHA:296
Hereditary Spherocytosis	Reticulocytosis, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Maculopapular exanth...	ORPHA:822
Psoriasis-Related Juvenile Idiopathic Arthritis	Anterior uveitis, Psoriasiform dermatitis, Skin rash, Psoriasiform lesion, Iridocyclitis, Oligoar...	ORPHA:85436
Bartter Syndrome, Type 2, Antenatal	Hyperchloriduria, Small for gestational age, Increased serum prostaglandin E2, Hypochloremia, Hyp...	OMIM:241200
Myoglobinuria, Acute Recurrent, Autosomal Recessive	Hyperkalemia, Elevated circulating creatine kinase concentration	OMIM:268200
Hirschsprung Disease	Failure to thrive in infancy, Sepsis, Weight loss	ORPHA:388
Catastrophic Antiphospholipid Syndrome	Myocarditis, Skin ulcer, Arthritis, Coombs-positive hemolytic anemia, Microangiopathic hemolytic ...	ORPHA:464343
Vici Syndrome	Decreased circulating IgG level, Lymphopenia, Decreased T cell activation, Leukopenia, T lymphocy...	OMIM:242840
Malignant Hyperthermia, Susceptibility To, 1	Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration	OMIM:145600
Erythema Elevatum Diutinum	Increased circulating antibody level	ORPHA:90000
Immunodeficiency 31C	Impaired lymphocyte transformation with phytohemagglutinin, Recurrent respiratory infections, Lym...	OMIM:614162
Follicular Lymphoma	Splenomegaly, Meningitis, Weight loss	ORPHA:545
Peroxisome Biogenesis Disorder 2A (Zellweger)	Cryptorchidism, Hypoplasia of the thymus	OMIM:214110
Pseudohypoaldosteronism, Type Iic	Hyperchloremia, Hyperkalemia, Decreased circulating renin level	OMIM:614492
Bare Lymphocyte Syndrome, Type I	Chronic otitis media, Chronic sinusitis, Bronchiectasis, Skin ulcer	OMIM:604571
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Splenomegaly, Weight loss	ORPHA:86893
Achalasia, Familial Esophageal	Keratoconjunctivitis sicca, Rheumatoid arthritis	OMIM:200400
Neuropathy, Hereditary Sensory, Type Iic	Acral ulceration	OMIM:614213
Chronic Myeloid Leukemia	Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo...	ORPHA:521
Corticosterone Methyloxidase Type Ii Deficiency	Hyponatremia, Hyperkalemia, Increased circulating renin level	OMIM:610600
Chronic Hiccup	Weight loss	ORPHA:396
3-Methylglutaconic Aciduria Type 7	Bone marrow hypocellularity, Infection associated neutropenia, Neutropenia	ORPHA:445038
Diarrhea 1, Secretory Chloride, Congenital	Hyponatremia, Hypokalemia, Increased circulating renin level, Hypochloremia	OMIM:214700
Cohen Syndrome	Leukopenia, Neutropenia	OMIM:216550
Barth Syndrome	Cyclic neutropenia, Granulocytopenia, Hypochromic microcytic anemia, Neutropenia	OMIM:302060
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)	Failure to thrive, Cachexia, Weight loss	OMIM:612075
Methylcobalamin Deficiency Type Cble	Macrocytic anemia, Increased mean corpuscular volume, Pancytopenia, Neutropenia	ORPHA:2169
Immunodeficiency 47	Normocytic anemia, Accessory spleen, Splenomegaly, Decreased circulating antibody level, Decrease...	OMIM:300972
Spondyloenchondrodysplasia With Immune Dysregulation	Pneumonia, Autoimmune thrombocytopenia, Neutropenia, T lymphocytopenia, Recurrent sinusitis, Rheu...	OMIM:607944
Rheumatoid Arthritis	Rheumatoid factor positive, Joint stiffness, Anti-citrullinated protein antibody positivity, Join...	OMIM:180300
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)	Slender build, Cachexia, Weight loss	OMIM:613662
Incontinentia Pigmenti	Eosinophilia, Supernumerary nipple	ORPHA:464
Bone Marrow Failure Syndrome 3	Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Eczema, Thrombocytopenia, Persistence of h...	OMIM:617052
Fanconi Anemia, Complementation Group E	Pancytopenia, Anemic pallor, Reticulocytopenia, Anemia, Neutropenia, Leukemia, Thrombocytopenia	OMIM:600901
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Pancytopenia, Skin rash, Megaloblastic anemia, Thrombocytopenia, Neutropenia, Stomatitis, Anemia	OMIM:277380
Pyomyositis	Recurrent cutaneous abscess formation, Leukocytosis, Sepsis, Weight loss, Recurrent infections	ORPHA:764
Corticosterone Methyloxidase Type I Deficiency	Hyponatremia, Hyperkalemia, Increased circulating renin level	OMIM:203400
Fanconi Anemia, Complementation Group C	Pancytopenia, Anemic pallor, Thrombocytopenia, Reticulocytopenia, Bone marrow hypocellularity, Ne...	OMIM:227645
Pseudohypoparathyroidism Type 1A	Calcinosis, Obesity, Hyperphosphatemia, Hypocalcemia, Abnormal platelet function, Hypocalcemic te...	ORPHA:79443
Progressive Nodular Histiocytosis	Cachexia	ORPHA:158022
Generalized Pseudohypoaldosteronism Type 1	Hyponatremia, Failure to thrive in infancy, Recurrent tonsillitis, Hyperkalemia, Weight loss, Inc...	ORPHA:171876
Isaacs Syndrome	Weight loss	ORPHA:84142
Calcific Aortic Disease With Immunologic Abnormalities, Familial	Increased circulating antibody level	OMIM:114065
Primary Sjögren Syndrome	Normocytic anemia, Myositis, Chronic active hepatitis, Tubulointerstitial nephritis, Leukopenia, ...	ORPHA:289390
Diamond-Blackfan Anemia 7	Macrocytic anemia, Increased mean corpuscular volume, Esophagitis, Neutropenia, Recurrent otitis ...	OMIM:612562
Hypoadrenocorticism, Familial	Hyponatremia, Hyperkalemia	OMIM:240200
Kasabach-Merritt Syndrome	Reticulocytosis, Petechiae, Thrombocytopenia, Leukopenia, Microangiopathic hemolytic anemia, Neut...	ORPHA:2330
Bullous Pemphigoid	Weight loss, Recurrent infections	ORPHA:703
Complement Component 5 Deficiency	Recurrent Neisserial infections, Recurrent meningococcal disease	OMIM:609536
Epidermodysplasia Verruciformis, Susceptibility To, 5	T lymphocytopenia, Lymphopenia	OMIM:618309
Familial Hyperaldosteronism Type I	Hypokalemia	ORPHA:403
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Hypokalemia	OMIM:611590
Spondyloarthropathy, Susceptibility To, 1	Anterior uveitis, Psoriasiform dermatitis, Oligoarthritis, Enthesitis, Inflammation of the large ...	OMIM:106300
Beta-Thalassemia Intermedia	Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia of inadequate production, Splenom...	ORPHA:231222
Anemia, Congenital Dyserythropoietic, Type Iv	Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti...	OMIM:613673
Romano-Ward Syndrome	Hypokalemia	ORPHA:101016
Fanconi Anemia, Complementation Group A	Pancytopenia, Anemic pallor, Reticulocytopenia, Anemia, Neutropenia, Leukemia, Thrombocytopenia	OMIM:227650
Sickle Cell Disease	Hemolytic anemia, Splenomegaly, Leukocytosis, Splenic infarction, Recurrent bacterial infections,...	OMIM:603903
Buerger Disease	Skin ulcer	ORPHA:36258
Cryoglobulinemic Vasculitis	Viral hepatitis, Splenomegaly, Skin ulcer, Arthritis, Keratoconjunctivitis sicca, Petechiae, Purpura	ORPHA:91138
Fanconi Renotubular Syndrome 1	Hypokalemia, Hypophosphatemia	OMIM:134600
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Hypokalemia, Hypocalcemia, Hypomagnesemia	OMIM:175500
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy	Cachexia	ORPHA:1216
Colchicine Poisoning	Hyponatremia, Abnormal blood ion concentration, Hypophosphatemia, Hypokalemia, Hypocalcemia, Hypo...	ORPHA:31824
Central Diabetes Insipidus	Hyponatremia, Failure to thrive, Weight loss	ORPHA:178029
Pseudohypoaldosteronism Type 2	Hyperkalemia	ORPHA:757
Pearson Marrow-Pancreas Syndrome	Sideroblastic anemia, Pancytopenia, Thrombocytopenia, Erythema, Reticulocytopenia, Pallor, Neutro...	OMIM:557000
Methylmalonic Acidemia With Homocystinuria Type Cblf	Stomatitis, Neutropenia, Skin rash, Megaloblastic anemia	ORPHA:79284
Primary Myelofibrosis	Pancytopenia, Extramedullary hematopoiesis, Petechiae, Thrombocytopenia, Leukocytosis, Splenomega...	ORPHA:824
Familial Hyperaldosteronism Type Ii	Hypokalemia	ORPHA:404
Livedoid Vasculopathy	Pancytopenia, Superficial dermal perivascular inflammatory infiltrate, Recurrent skin infections,...	ORPHA:542643
Ectopic Aldosterone-Producing Tumor	Hypokalemia, Decreased circulating renin level	ORPHA:231632
Bone Dysplasia, Lethal Holmgren Type	Recurrent respiratory infections, Failure to thrive, Anemia, Weight loss	ORPHA:1842
Digeorge Syndrome	Parathyroid agenesis, Impaired T cell function, Decreased circulating parathyroid hormone level, ...	OMIM:188400
Aplasia Cutis Congenita	Skin ulcer	ORPHA:1114
Complement Factor I Deficiency	Recurrent urinary tract infections, Recurrent Haemophilus influenzae infections, Recurrent mening...	OMIM:610984
Acquired Purpura Fulminans	Pyoderma gangrenosum, Skin rash, Thrombocytopenia, Macular purpura	ORPHA:49566
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome	Recurrent respiratory infections, Cachexia	ORPHA:1389
Relapsing Fever	Neutrophilia, Leukocytosis, Anemia, Leukopenia, Thrombocytopenia	ORPHA:91547
Methylmalonic Aciduria, Cblb Type	Thrombocytopenia, Pancytopenia, Anemia, Neutropenia	OMIM:251110
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease	Hypokalemia, Elevated circulating creatinine concentration, Elevated circulating alpha-fetoprotei...	OMIM:613095
Hypercalcemia, Infantile, 1	Failure to thrive, Hypercalcemia, Weight loss	OMIM:143880
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome	Decreased circulating IgA level, Abnormal T cell morphology	OMIM:215250
Trichothiodystrophy	Congenital exfoliative erythroderma, Eczema, Increased mean corpuscular hemoglobin concentration,...	ORPHA:33364
3-Methylglutaconic Aciduria, Type Viib	Leukopenia, Recurrent pneumonia, Thrombocytopenia, Neutropenia	OMIM:616271
Myofibrillar Myopathy 10	Percussion myotonia, Prolonged QTc interval, Increased QRS voltage	OMIM:619040
Lethal Congenital Contracture Syndrome 10	Hypoplasia of the thymus	OMIM:617022
East Syndrome	Hypokalemia, Increased circulating renin level, Hypomagnesemia	ORPHA:199343
Combined Immunodeficiency-Enteropathy Spectrum	Autoimmune hemolytic anemia, Rectal abscess, Hypoplasia of the thymus, Type I diabetes mellitus, ...	ORPHA:436252
Mulibrey Nanism	Cachexia	ORPHA:2576
Toxic Epidermal Necrolysis	Erythema, Skin ulcer, Anemia, Conjunctivitis, Neutropenia, Pancreatitis, Thrombocytopenia	ORPHA:537
Immunodeficiency 58	Recurrent cutaneous abscess formation, Helicobacter pylori infection, Recurrent respiratory infec...	OMIM:618131
Celiac Disease, Susceptibility To, 1	Macrocytic anemia, Weight loss, Iron deficiency anemia, Prolonged prothrombin time, Hypocalcemia,...	OMIM:212750
Acrogeria	Excessive wrinkled skin, Skin ulcer	ORPHA:2500
Mirage Syndrome	Recurrent urinary tract infections, Sepsis, Anemia, Leukopenia, Recurrent bacterial infections, H...	OMIM:617053
Sickle Cell Anemia	Hemolytic anemia, Reticulocytosis, Osteomyelitis, Microcytic anemia, Abnormality of the spleen, L...	ORPHA:232
Sneddon Syndrome	Decreased circulating total IgM, Lymphopenia	OMIM:182410
Classic Hodgkin Lymphoma	Splenomegaly, Bone marrow hypocellularity, Weight loss	ORPHA:391
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Inflammatory abnormality of the skin, Autoimmune hemolytic anemia, Eczema, Autoimmune thrombocyto...	ORPHA:391487
Idiopathic Bronchiectasis	Cachexia, Recurrent lower respiratory tract infections, Recurrent Haemophilus influenzae infections	ORPHA:60033
Microscopic Polyangiitis	Episcleritis, Increased inflammatory response, Pericarditis, Sinusitis, Skin rash, Peritonitis, E...	ORPHA:727
Polycythemia Vera	Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato...	OMIM:263300
Simple Cryoglobulinemia	Viral hepatitis, Pericarditis, Membranoproliferative glomerulonephritis, Purpura, Monoclonal elev...	ORPHA:91139
Diencephalic Syndrome	Cachexia, Decreased body weight	ORPHA:1672
Juvenile Hyaline Fibromatosis	Skin ulcer	ORPHA:2028
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome	Cachexia	ORPHA:1144
22Q11.2 Deletion Syndrome	Hypoparathyroidism, Hyperthyroidism, Impaired T cell function, Abnormality of the tonsils, Spleno...	ORPHA:567
Thymoma	Aplastic anemia, Pure red cell aplasia, Abnormal lymphocyte proliferation, Abnormal lymphocyte ph...	ORPHA:99867
Cryptogenic Organizing Pneumonia	Leukocytosis, Neutrophilia	ORPHA:1302
Cystinosis	Hypokalemia, Hypophosphatemia	ORPHA:213
Granulomatosis With Polyangiitis	Episcleritis, Sinusitis, Keratitis, Uveitis, Skin ulcer, Granulomatosis, Conjunctivitis, Chronic ...	OMIM:608710
Free Sialic Acid Storage Disease	Splenomegaly, Skin ulcer	ORPHA:834
Autoimmune Polyendocrinopathy Type 4	Osteopenia, Macrocytic anemia, Atrophic gastritis, Antiphospholipid antibody positivity, Autoimmu...	ORPHA:227990
Immunodeficiency, Common Variable, 10	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level	OMIM:615577
Primary Unilateral Adrenal Hyperplasia	Hypokalemia, Decreased circulating renin level	ORPHA:231580
Sarcoidosis	Hemolytic anemia, Hyperthyroidism, Parotitis, Eosinophilia, Diabetes insipidus, Increased T cell ...	ORPHA:797
Cartilage-Hair Hypoplasia	Impaired lymphocyte transformation with phytohemagglutinin, Macrocytic anemia, Congenital hypopla...	OMIM:250250
Aplasia Cutis-Myopia Syndrome	Skin ulcer	ORPHA:1117
Wolcott-Rallison Syndrome	Iron deficiency anemia, Lymphocytosis, Neutropenia	ORPHA:1667
Hereditary Sensory And Autonomic Neuropathy Type 1	Osteomyelitis, Penetrating foot ulcers, Skin ulcer	ORPHA:36386
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome	Weight loss	ORPHA:2198
Pseudohypoaldosteronism, Type I, Autosomal Dominant	Hyponatremia, Hyperkalemia, Increased circulating renin level	OMIM:177735
Autosomal Dominant Epidermolytic Ichthyosis	Skin ulcer, Erythroderma	ORPHA:312
Focal Myositis	Elevated circulating creatine kinase concentration, Weight loss	ORPHA:48918
Hyperkeratosis Lenticularis Perstans	Skin ulcer	ORPHA:409
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6	Pancytopenia, Decreased circulating antibody level, Bone marrow hypocellularity, Abnormally low T...	OMIM:619767
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Recurrent respiratory infections, Elevated circulating C-reactive protein concentration, Perianal...	OMIM:301074
Ménétrier Disease	Helicobacter pylori infection, Hypochromic microcytic anemia, Weight loss, Hypoalbuminemia, Hypop...	ORPHA:2494
Hennekam-Beemer Syndrome	Mastocytosis	ORPHA:2135
Cervical Hypertrichosis-Peripheral Neuropathy Syndrome	Osteomyelitis, Skin ulcer	ORPHA:2218
Isolated Anencephaly	Thymus hyperplasia, Adrenal hypoplasia, Maternal diabetes	ORPHA:563609
Primary Sclerosing Cholangitis	Abnormal eosinophil morphology, Splenomegaly, Thyroiditis, Hepatosplenomegaly, Polyclonal elevati...	ORPHA:171
Refractory Anemia With Excess Blasts	Acute myeloid leukemia, Anemic pallor, Anemia of inadequate production, Leukocytosis, Abnormal me...	ORPHA:86839
Holocarboxylase Synthetase Deficiency	Hyperammonemia, Thrombocytopenia, Weight loss	ORPHA:79242
Herpes Simplex Virus Encephalitis	Leukocytosis, Neutrophilia	ORPHA:1930
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness	Hyponatremia, Hyperchloriduria, Hypokalemia, Hypochloremia	OMIM:613090
Kenny-Caffey Syndrome, Type 1	Recurrent bacterial infections, Anemia	OMIM:244460
Huntington Disease-Like 2	Weight loss	OMIM:606438
Wilson Disease	Thrombocytopenia, Splenomegaly, Increased body weight, Weight loss, Failure to thrive, Anemia	ORPHA:905
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Hypoparathyroidism, Aplasia of the thymus, Decreased response to growth hormone stimulation test,...	OMIM:618223
Shwachman-Diamond Syndrome 1	Acute myeloid leukemia, Pancytopenia, Persistence of hemoglobin F, Anemia, Neutropenia, Thrombocy...	OMIM:260400
Acute Monoblastic/Monocytic Leukemia	Acute monocytic leukemia, Leukocytosis, Weight loss, Lymphocytosis, Hypochromic anemia, Anemia	ORPHA:514
Familial Hyperaldosteronism Type Iii	Hypokalemia	ORPHA:251274
Diffuse Alveolar Hemorrhage	Thrombocytopenia, Leukocytosis, Elevated circulating creatinine concentration, Weight loss, Anemia	ORPHA:90060
Autoimmune Polyendocrinopathy Type 3	Osteopenia, Macrocytic anemia, Atrophic gastritis, Antiphospholipid antibody positivity, Autoimmu...	ORPHA:227982
Mannosidosis, Alpha B, Lysosomal	Splenomegaly, Vacuolated lymphocytes, Recurrent bacterial infections, Decreased circulating antib...	OMIM:248500
Methylmalonic Aciduria, Cbla Type	Thrombocytopenia, Pancytopenia, Anemia, Neutropenia	OMIM:251100
Fanconi Anemia, Complementation Group D2	Pancytopenia, Anemic pallor, Thrombocytopenia, Reticulocytopenia, Bone marrow hypocellularity, Ne...	OMIM:227646
Bacterial Toxic-Shock Syndrome	Fasciitis, Sinusitis, Myositis, Pneumonia, Osteomyelitis, Skin rash, Glomerulonephritis, Recurren...	ORPHA:36234
Chronic Beryllium Disease	Abnormal proportion of CD4-positive T cells, Weight loss	ORPHA:133
Moynahan Syndrome	Cachexia	ORPHA:2574
Zygomycosis	Brain abscess, Fasciitis, Sinusitis, Pericarditis, Gastritis, Pustule, Myocarditis, Peritonitis, ...	ORPHA:73263
Immunodeficiency 82 With Systemic Inflammation	Decreased proportion of naive T cells, Elevated circulating C-reactive protein concentration, Spl...	OMIM:619381
Inflammatory Pseudotumor Of The Liver	Increased hepatitis B virus antibody level, Elevated circulating alpha-fetoprotein concentration,...	ORPHA:90003
Xq28 (MECP2) duplication	Decreased circulating IgA level	DECIPHER:45
Myotonia With Skeletal Abnormalities And Mental Retardation	Myotonia	OMIM:255710
Dominant Beta-Thalassemia	Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anisocytosis, ...	ORPHA:231226
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy	Neutropenia, Microcytic anemia	OMIM:251900
Late-Onset Familial Hypoaldosteronism	Hyponatremia, Hyperkalemia, Increased circulating renin level	ORPHA:556037
Myasthenia Gravis	Hemolytic anemia, Myositis, Pure red cell aplasia, Anti-acetylcholine receptor antibody positivit...	ORPHA:589
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency	Skin ulcer, Purpura	ORPHA:743
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive	Hyponatremia, Hyperkalemia	OMIM:264350
Staphylococcal Necrotizing Pneumonia	Diabetes mellitus, Neutrophilia, Leukocytosis, Leukopenia, Increased circulating procalcitonin co...	ORPHA:36238
Polyarteritis Nodosa	Pericarditis, Erythema, Skin ulcer	ORPHA:767
Bloom Syndrome	Decreased proportion of CD4-positive T cells, Acute myeloid leukemia, Recurrent herpes, Recurrent...	ORPHA:125
Multiple Myeloma	Hypercalcemia, Increased circulating IgA level, Splenomegaly, Elevated circulating creatinine con...	ORPHA:29073
Congenital Enterocyte Heparan Sulfate Deficiency	Abnormal circulating protein concentration, Abnormal circulating polysaccharide concentration, Hy...	ORPHA:103910
Diamond-Blackfan Anemia	Acute myeloid leukemia, Pure red cell aplasia, Erythroid hypoplasia, Reticulocytopenia, Persisten...	ORPHA:124
Hermansky-Pudlak Syndrome 10	Splenomegaly, Neutropenia	OMIM:617050
Postinfectious Vasculitis	Abnormal circulating protein concentration, Persistent human papillomavirus infection, Increased ...	ORPHA:48435
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion	Hypokalemia, Decreased circulating renin level	ORPHA:231625
Acetazolamide-Responsive Myotonia	Myotonia	ORPHA:99736
Secondary Short Bowel Syndrome	Low plasma citrulline, Sepsis, Abnormal blood ion concentration, Weight loss, Failure to thrive	ORPHA:95427
Kikuchi-Fujimoto Disease	Skin rash, Pustule, Myocarditis, Thrombocytopenia, Splenomegaly, Erythema, Leukopenia, Lymphocyto...	ORPHA:50918
Fanconi-Bickel Syndrome	Hypouricemia, Hypophosphatemia, Hypokalemia, Hypergalactosemia, Increased serum bile acid concent...	OMIM:227810
Dyskeratosis Congenita, Autosomal Recessive 5	Leukopenia, Bone marrow hypocellularity, Decreased circulating antibody level	OMIM:615190
Cholera	Hyponatremia, Hypocalcemia, Hypokalemia, Abnormal blood ion concentration	ORPHA:173
Apparent Mineralocorticoid Excess	Hypokalemia, Decreased circulating renin level	ORPHA:320
Erythrokeratodermia Variabilis	Weight loss	ORPHA:317
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Pallor, Poikilocytosis, Fava bean-indu...	OMIM:300908
Sarcoidosis, Susceptibility To, 1	Abnormality of T cell physiology, Generalized lymphadenopathy, Pancytopenia, Splenomegaly, Medias...	OMIM:181000
Congenital Isolated Acth Deficiency	Hyponatremia, Hyperkalemia	ORPHA:199296
Noonan Syndrome	Abnormality of the spleen, Abnormal platelet function	ORPHA:648
Oculopharyngodistal Myopathy	Weight loss	ORPHA:98897
Myotonic Dystrophy 1	Myotonia, Atrial flutter, Atrial fibrillation, First degree atrioventricular block	OMIM:160900
Prolidase Deficiency	Splenomegaly, Erythema, Crusting erythematous dermatitis, Skin ulcer, Dry skin	ORPHA:742
Brucellosis	Liver abscess, Knee osteoarthritis, Increased circulating IgG level, Leukopenia, Infectious encep...	ORPHA:1304
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)	Conjugated hyperbilirubinemia, Hyperkalemia, Hypoalbuminemia, Increased total bilirubin	OMIM:618528
Glycogen Storage Disease Ib	Splenomegaly, Gout, Inflammation of the large intestine, Neutropenia, Pancreatitis	OMIM:232220
Limited Cutaneous Systemic Sclerosis	Skin ulcer	ORPHA:220402
Neuropathy, Hereditary Sensory And Autonomic, Type Iib	Osteomyelitis, Acral ulceration	OMIM:613115
Intellectual Developmental Disorder, Autosomal Dominant 54	Dry skin, Eczema, Neutropenia	OMIM:617799
Saul-Wilson Syndrome	Neutropenia	OMIM:618150
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)	Neutropenia	OMIM:615471
Kaposi Sarcoma	Abnormality of the spleen, Recurrent herpes, Weight loss	ORPHA:33276
Helix Syndrome	Hypokalemia, Hypermagnesemia	OMIM:617671
Spondyloepimetaphyseal Dysplasia, Sponastrime Type	Decreased circulating IgG level, Neutropenia	OMIM:271510
Pmm2-Cdg	Hypogonadotropic hypogonadism, Elevated circulating growth hormone concentration, Elevated circul...	ORPHA:79318
Juvenile Huntington Disease	Weight loss	ORPHA:248111
Cutis Laxa, Autosomal Recessive, Type Ic	Accessory spleen, Hypoplasia of the thymus, Adrenal hypoplasia	OMIM:613177
Overlap Myositis	Subluxation of the small joints of the hand, Autoimmunity, Antinuclear antibody positivity, Syste...	ORPHA:206572
Majeed Syndrome	Cachexia, Congenital hypoplastic anemia, Splenomegaly, Leukocytosis, Hypochromic microcytic anemi...	ORPHA:77297
Dermatoosteolysis, Kirghizian Type	Keratitis, Osteoarthritis, Skin ulcer	ORPHA:1657
Hereditary Central Diabetes Insipidus	Weight loss	ORPHA:30925
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome	Aplasia of the thymus	ORPHA:3004
Early-Onset Familial Hypoaldosteronism	Hyponatremia, Hyperkalemia, Increased circulating renin level	ORPHA:556030
Neuropathy, Hereditary Sensory And Autonomic, Type Ic	Osteomyelitis, Skin ulcer	OMIM:613640
Mitochondrial Neurogastrointestinal Encephalomyopathy	Anemia, Hyperalaninemia, Cachexia, Weight loss	ORPHA:298
Tropical Endomyocardial Fibrosis	Splenomegaly, Increased circulating interleukin 6 concentration, Eosinophilia	ORPHA:75565
Cushing Disease	Increased urinary cortisol level, Adrenal hyperplasia, Diabetes mellitus, Paradoxical increased c...	ORPHA:96253
Myotonic Dystrophy 2	Handgrip myotonia, Tachycardia, Myotonia, Premature ventricular contraction, Right bundle branch ...	OMIM:602668
Primary Aldosteronism, Seizures, And Neurologic Abnormalities	Hypokalemia, Decreased circulating renin level	OMIM:615474
Lichen Planopilaris	Hepatitis, Skin ulcer	ORPHA:525
Attrv30M Amyloidosis	Weight loss	ORPHA:85447
Shwachman-Diamond Syndrome 2	Normocytic anemia, Thrombocytopenia, Neutropenia	OMIM:617941
Familial Pseudohyperkalemia	Hyperkalemia	ORPHA:90044
Leukocyte Adhesion Deficiency Type Ii	Neutrophilia, Abnormal isohemagglutinin level, Microcytic anemia, Leukocytosis, Anemia	ORPHA:99843
Mercury Poisoning	Hypokalemia	ORPHA:330021
Glucose-Galactose Malabsorption	Failure to thrive, Hypernatremia, Hypercalcemia, Weight loss	ORPHA:35710
Car T Cell Therapy-Associated Cytokine Release Syndrome	Increased inflammatory response, Increased circulating interleukin 6 concentration, Skin rash, In...	ORPHA:542323
Hypocomplementemic Urticarial Vasculitis	Splenomegaly, Meningitis, Recurrent bacterial infections	ORPHA:36412
Riddle Syndrome	Elevated circulating alpha-fetoprotein concentration, Recurrent viral infections, Recurrent pneum...	ORPHA:420741
Beta-Thalassemia Major	Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anemia of inad...	ORPHA:231214
Alexander Disease Type I	Failure to thrive, Cachexia	ORPHA:363717
Leigh Syndrome	Eczema, Anemia, Neutropenia	ORPHA:506
Primary Ciliary Dyskinesia	Recurrent sinopulmonary infections, Asplenia, Recurrent mycobacterial infections, Polysplenia, Re...	ORPHA:244
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome	Hypokalemia	ORPHA:369929
Treacher-Collins Syndrome	Cryptorchidism, Abnormality of the adrenal glands, Hypoplasia of the thymus, Thyroid hypoplasia	ORPHA:861
Reynolds Syndrome	Skin rash, Skin ulcer, Arthritis, Keratoconjunctivitis sicca, Infectious encephalitis	ORPHA:779
Pulmonary Non-Tuberculous Mycobacterial Infection	Mycobacterium abscessus abscessus infection, Disseminated nontuberculous mycobacterial infection,...	ORPHA:411703
Congenital Muscular Dystrophy Due To Lmna Mutation	Cachexia	ORPHA:157973
Juvenile Nephropathic Cystinosis	Hyponatremia, Hypouricemia, Elevated circulating creatinine concentration, Hypokalemia, Hypocalce...	ORPHA:411634
Pleural Mesothelioma	Weight loss	ORPHA:50251
Congenital Disorder Of Glycosylation With Defective Fucosylation 1	Neutropenia	OMIM:618005
Cartilage-Hair Hypoplasia	Neutropenia, Anemia, Decreased circulating antibody level	ORPHA:175
Fraser Syndrome 2	Hypoplasia of the thymus	OMIM:617666
Osteopetrosis, Autosomal Recessive 9	Elevated circulating creatinine concentration, Hyperkalemia	OMIM:620366
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency	Hyponatremia, Hyperkalemia	OMIM:614736
Lipodystrophy Due To Peptidic Growth Factors Deficiency	Abnormal circulating lipid concentration, Hyperlipoproteinemia, Cachexia, Weight loss	ORPHA:1979
Huntington Disease	Abnormal circulating cholesterol concentration, Decreased body mass index, Weight loss	ORPHA:399
Rothmund-Thomson Syndrome	Aplastic anemia, Skin rash, Neutropenia, Leukemia, Malar rash, Anemia	ORPHA:2909
Eec Syndrome	Anterior hypopituitarism, Hypoplasia of the thymus, Decreased response to growth hormone stimulat...	ORPHA:1896
Familial Glucocorticoid Deficiency	Hyponatremia, Recurrent urinary tract infections, Hyperkalemia, Weight loss, Recurrent infections...	ORPHA:361
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Neutrophilia, Osteomyelitis, Skin rash, Abscess, Pustule, Splenomegaly, Stomatitis	OMIM:612852
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Splenomegaly, Leukocytosis, Recurrent bacterial infections, Anemia	OMIM:615895
Flynn-Aird Syndrome	Skin ulcer	ORPHA:2047
Desmoplastic Small Round Cell Tumor	Anemia, Cachexia, Weight loss	ORPHA:83469
3-Hydroxy-3-Methylglutaric Aciduria	Leukocytosis, Hyperammonemia, Weight loss, Leukopenia, Prolonged prothrombin time, Hyperuricemia,...	ORPHA:20
Non-Functioning Paraganglioma	Hypercalcemia, Weight loss	ORPHA:94080
Spinocerebellar Ataxia 48	Cachexia	OMIM:618093
Bartter Syndrome, Type 3	Hyperchloriduria, Hypokalemia, Increased circulating renin level	OMIM:607364
Granulomatosis With Polyangiitis	Increased inflammatory response, Pericarditis, Sinusitis, Skin rash, Skin ulcer, Inflammatory abn...	ORPHA:900
Juvenile Polyposis Syndrome	Hypokalemia, Hypoalbuminemia	OMIM:174900
Wolman Disease	Anemia, Splenomegaly, Cachexia, Bone-marrow foam cells	ORPHA:75233
Acrodermatitis Enteropathica	Pustule, Erythema, Cheilitis, Skin ulcer, Conjunctivitis, Dry skin, Blepharitis	ORPHA:37
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance	Hypokalemia, Increased circulating renin level, Hypomagnesemia	OMIM:612780
Insulin-Resistance Syndrome Type B	Abnormal circulating lipid concentration, Abnormality of body weight, Increased circulating IgA l...	ORPHA:2298
Myopathy, X-Linked, With Excessive Autophagy	Myotonia	OMIM:310440
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Neutropenia, Thrombocytopenia, Megaloblastic anemia	OMIM:277400
Pediatric-Onset Graves Disease	Episcleritis, Keratitis, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Thro...	ORPHA:525731
Q Fever	Unusual infection, Splenomegaly, Weight loss, Hepatosplenomegaly, Anemia, Granuloma, Increased ci...	ORPHA:781
Cushing Syndrome Due To Ectopic Acth Secretion	Adrenal hyperplasia, Pancreatoblastoma, Pituitary corticotropic cell adenoma, Neoplasm of the thy...	ORPHA:99889
Diamond-Blackfan Anemia 1	Macrocytic anemia, Congenital hypoplastic anemia, Reticulocytopenia, Persistence of hemoglobin F,...	OMIM:105650
Immunodeficiency 87 And Autoimmunity	Decreased proportion of CD4-positive T cells, Hemolytic anemia, Lymphopenia, Autoimmune hemolytic...	OMIM:619573
Rothmund-Thomson Syndrome Type 2	Aplastic anemia, Erythema, Facial erythema, Neutropenia, Leukemia, Anemia	ORPHA:221016
Cohen Syndrome	Neutropenia	ORPHA:193
Dyskeratosis Congenita	Abnormality of neutrophils, Thrombocytopenia, Splenomegaly, Skin ulcer, Periodontitis, Bone marro...	ORPHA:1775
Rasmussen Subacute Encephalitis	Decreased circulating total IgA	ORPHA:1929
Dyskeratosis Congenita, Digenic	Decreased circulating total IgM, Decreased circulating IgG level, Anemia, Decreased circulating I...	OMIM:620040
Neuropathy, Hereditary Sensory And Autonomic, Type Ia	Foot osteomyelitis, Osteomyelitis, Acral ulceration	OMIM:162400
Viss Syndrome	Increased circulating IgE level, Hypereosinophilia, Increased circulating IgG level, Hypothyroidi...	OMIM:619472
X-Linked Intellectual Disability, Nascimento Type	Recurrent cutaneous abscess formation, Dry skin, Neutropenia	ORPHA:163956
Emery-Dreifuss Muscular Dystrophy	Ventricular escape rhythm, Myotonia, Sudden cardiac death, Supraventricular arrhythmia, Dilated c...	ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy	Ventricular escape rhythm, Myotonia, Sudden cardiac death, Supraventricular arrhythmia, Dilated c...	ORPHA:98853
Rothmund-Thomson Syndrome Type 1	Aplastic anemia, Facial erythema, Neutropenia, Leukemia, Anemia	ORPHA:221008
Familial Thrombocytosis	Acute myeloid leukemia, Splenomegaly, Chronic myelogenous leukemia, Weight loss, Thrombocytosis	ORPHA:71493
Perry Syndrome	Weight loss	ORPHA:178509
Ring Chromosome 10 Syndrome	Hypocalcemia, Cachexia	ORPHA:1438
Mcdonough Syndrome	Cachexia	ORPHA:2471
Inflammatory Bowel Disease 11	Weight loss	OMIM:191390
Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy	Myotonia	ORPHA:209335
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy	Ventricular escape rhythm, Myotonia, Supraventricular arrhythmia, Sudden cardiac death, Dilated c...	ORPHA:98855
Japanese Encephalitis	Inappropriate antidiuretic hormone secretion, Increased circulating IgM level, Neutrophilia, Incr...	ORPHA:79139
Chronic Mucocutaneous Candidiasis	Skin rash, Erythema, Cheilitis, Hepatitis, Skin ulcer	ORPHA:1334
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Hyponatremia, Calcinosis, Hypokalemia, Hypocalcemia	OMIM:617913
Smith-Kingsmore Syndrome	Perisylvian polymicrogyria, Thrombocytopenia, Decreased circulating IgA level	OMIM:616638
Inflammatory Bowel Disease (Crohn Disease) 1	Weight loss	OMIM:266600
Pseudomyxoma Peritonei	Weight loss	ORPHA:26790
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Chronic neutropenia, Enterocolitis, Ulcerative colitis, Gout, Thyroiditis, Inflammation of the la...	ORPHA:79259
Autosomal Recessive Axonal Neuropathy With Neuromyotonia	Handgrip myotonia, Percussion-induced rapid rolling muscle contractions, Myotonia	ORPHA:324442
Blau Syndrome	Pericarditis, Skin rash, Keratitis, Retrobulbar optic neuritis, Erythema nodosum, Iridocyclitis, ...	ORPHA:90340
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency	Pancytopenia, Cholangitis, Hypersplenism, Hepatitis, Thyroiditis, Hepatosplenomegaly, Neutropenia...	ORPHA:228426
Pituitary Adenoma 4, Acth-Secreting	Hypokalemia	OMIM:219090
Stevens-Johnson Syndrome	Recurrent respiratory infections, Abnormality of neutrophils, Sepsis, Weight loss, Anemia, Thromb...	ORPHA:36426
Khan-Khan-Katsanis Syndrome	Lymphopenia, Anemia, Neutropenia	OMIM:618460
Episodic Ataxia, Type 2	Myotonia	OMIM:108500
Blau Syndrome	Nongranulomatous uveitis, Pericarditis, Eczema, Erythema nodosum, Synovitis, Uveitis, Skin ulcer,...	OMIM:186580
Brooke-Spiegler Syndrome	Skin ulcer	ORPHA:79493
Pelizaeus-Merzbacher Disease	Recurrent respiratory infections, Failure to thrive in infancy, Cachexia	ORPHA:702
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Stomatitis, Neutropenia, Thrombocytopenia, Megaloblastic anemia	ORPHA:79282
Beta-Ketothiolase Deficiency	Leukocytosis, Hyperammonemia, Weight loss, Hyperuricemia, Thrombocytosis	ORPHA:134
Aicardi-Goutieres Syndrome 9	Hemolytic anemia, Recurrent urinary tract infections, Hepatosplenomegaly, Weight loss, Hypoalbumi...	OMIM:619487
Glycogen Storage Disease Ic	Cyclic neutropenia, Chronic pancreatitis, Gout, Inflammation of the large intestine, Stomatitis	OMIM:232240
Osteootohepatoenteric Syndrome	Hypokalemia, Increased serum bile acid concentration	OMIM:619377
Glycogen Storage Disease Due To Aldolase A Deficiency	Elevated creatine kinase after exercise, Hyperkalemia	ORPHA:57
Christianson Syndrome	Cachexia	ORPHA:85278
Huntington Disease-Like 1	Weight loss	ORPHA:157941
X-Linked Emery-Dreifuss Muscular Dystrophy	Ventricular escape rhythm, Myotonia, Supraventricular arrhythmia, Sudden cardiac death, Atriovent...	ORPHA:98863
Infantile Nephropathic Cystinosis	Hypokalemia, Abnormal blood ion concentration, Hypophosphatemia	ORPHA:411629
Yellow Fever	Increased circulating interleukin 6 concentration, Neutrophilia, Leukocytosis, Pancreatic hyperpl...	ORPHA:99829
Isolated Succinate-Coq Reductase Deficiency	Weight loss	ORPHA:3208
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2	Failure to thrive in infancy, Cachexia	OMIM:616801
Adult Polyglucosan Body Disease	Skin ulcer	ORPHA:206583
Nephronophthisis 2	Elevated circulating creatinine concentration, Hyperkalemia	OMIM:602088
Acute Adrenal Insufficiency	Normocytic anemia, Hyponatremia, Hypercalcemia, Hyperkalemia, Weight loss, Increased circulating ...	ORPHA:95409
Adrenocortical Carcinoma	Hypokalemia	ORPHA:1501
Gm1 Gangliosidosis	Recurrent respiratory infections, Splenomegaly, Hepatosplenomegaly, Weight loss, Failure to thriv...	ORPHA:354
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Hypoparathyroidism, Abnormality of T cell physiology, Diabetes mellitus, Parathyroid hypoplasia	ORPHA:2237
Mogs-Cdg	Decreased circulating antibody level, Hepatosplenomegaly, Decreased circulating total IgM, Decrea...	ORPHA:79330
Primary Fanconi Renotubular Syndrome	Hypouricemia, Bicarbonaturia, Hypophosphatemia, Hypokalemia, Decreased circulating carnitine conc...	ORPHA:3337
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Anterior uveitis, Inflammatory abnormality of the skin, Skin rash, Pneumonia, Keratitis, Skin ulc...	ORPHA:95455
Cronkhite-Canada Syndrome	Anemia, Splenomegaly, Cachexia	ORPHA:2930
Gitelman Syndrome	Hypokalemia, Increased circulating renin level, Hypomagnesemia	OMIM:263800
Proteus-Like Syndrome	Splenomegaly, Thymus hyperplasia, Polycystic ovaries, Abnormality of the parathyroid gland	ORPHA:2969
Riboflavin Transporter Deficiency	Cachexia	ORPHA:97229
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Hyperammonemia, Decreased plasma total carnitine, Elevated circulating creatine kinase concentrat...	ORPHA:42
Velocardiofacial Syndrome	Hypoparathyroidism, Cryptorchidism, Impaired T cell function	OMIM:192430
Poems Syndrome	Thrombocytosis, Increased circulating antibody level, Polycythemia, Weight loss	ORPHA:2905
Thyrotoxic Periodic Paralysis	Episodic hypokalemia, Transient hypophosphatemia, Hyperkalemia, Hypomagnesemia, Mildly elevated c...	ORPHA:79102
Graves Disease, Susceptibility To, 1	Weight loss	OMIM:275000
Genetic Recurrent Myoglobinuria	Highly elevated creatine kinase, Hyperphosphatemia, Hyperkalemia, Hypocalcemia	ORPHA:99845
Myotonia Permanens	Myotonia	ORPHA:99735
Pearson Syndrome	Reticulocytosis, Pancytopenia, Thrombocytopenia, Splenomegaly, Bone marrow hypocellularity, Neutr...	ORPHA:699
Familial Mediterranean Fever	Pericarditis, Neutrophilia, Orchitis, Splenomegaly, Peritonitis, Leukocytosis, Arthritis, Crohn's...	OMIM:249100
Osteopetrosis, Autosomal Recessive 7	Splenomegaly, Decreased circulating total IgM, Decreased circulating IgG level, Anemia, Decreased...	OMIM:612301
Immunoglobulin A Vasculitis	Episcleritis, Skin rash, Orchitis, Pustule, Erythema, Skin ulcer, Arthritis, Infectious encephali...	ORPHA:761
Infection-Related Hemolytic Uremic Syndrome	Hemolytic anemia, Brain abscess, Increased circulating interleukin 6 concentration, Diabetes mell...	ORPHA:544482
Al Amyloidosis	Increased circulating NT-proBNP concentration, Howell-Jolly bodies, Weight loss, Increased circul...	ORPHA:85443
Congenital Disorder Of Glycosylation, Type Ig	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level	OMIM:607143
Bartter Syndrome, Type 1, Antenatal	Hyperchloriduria, Increased serum prostaglandin E2, Hypercalcemia, Hypochloremia, Hypokalemia, In...	OMIM:601678
Congenital Disorder Of Glycosylation, Type Iib	Decreased circulating IgA level, Decreased circulating antibody level	OMIM:606056
Monosomy 22	Aplasia of the thymus, Hypochromic microcytic anemia, Hepatosplenomegaly	ORPHA:96123
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Hyponatremia, Hypokalemia, Elevated circulating creatinine concentration, Unconjugated hyperbilir...	ORPHA:90038
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness	Hyponatremia, Hyperchloriduria, Hypokalemia, Hypochloremia	OMIM:602522
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria	Elevated circulating creatine kinase concentration, Cachexia	ORPHA:1933
Renpenning Syndrome	Cachexia	ORPHA:3242
Familial Multiple Nevi Flammei	Skin ulcer	ORPHA:624
Acquired Hypertrichosis Lanuginosa	Weight loss	ORPHA:2221
Juvenile Dermatomyositis	Myositis, Pericarditis, Skin rash, Erythema, Skin ulcer, Arthritis, Dry skin	ORPHA:93672
Giant Cell Arteritis	Recurrent pharyngitis, Meningitis, Abnormality of thrombocytes, Weight loss	ORPHA:397
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency	Hypokalemia, Decreased circulating renin level	ORPHA:90795
Cogan Syndrome	Episcleritis, Keratitis, Leukocytosis, Uveitis, Scleritis, Conjunctivitis, Thrombocytosis, Inflam...	ORPHA:1467
Episodic Ataxia Type 1	Myotonia	ORPHA:37612
Congenital-Onset Steinert Myotonic Dystrophy	Bundle branch block, Myotonia, First degree atrioventricular block	ORPHA:589821
Andersen Cardiodysrhythmic Periodic Paralysis	Hypokalemia	OMIM:170390
Amoebiasis Due To Entamoeba Histolytica	Liver abscess, Lung abscess, Leukocytosis, Weight loss, Hypoalbuminemia, Anemia	ORPHA:67
Thymic Carcinoma	Weight loss	ORPHA:99868
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome	Polymicrogyria, Decreased circulating IgA level	ORPHA:457485
Infantile Myofibromatosis	Skin ulcer	ORPHA:2591
Osteosarcoma	Weight loss	ORPHA:668
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis	Elevated circulating C-reactive protein concentration, Anemia, Weight loss	ORPHA:324964
Congenital Tricuspid Stenosis	Rheumatoid arthritis, Bacterial endocarditis	ORPHA:95459
Aicardi-Goutieres Syndrome 7	Hemolytic anemia, Pancytopenia, Splenomegaly, Increased circulating ferritin concentration, Weigh...	OMIM:615846
Cap Polyposis	Weight loss	ORPHA:160148
Hermansky-Pudlak Syndrome	Neutropenia	ORPHA:79430
Neuroblastoma, Susceptibility To, 1	Failure to thrive, Anemia, Weight loss	OMIM:256700
Squamous Cell Carcinoma Of The Anal Canal	Skin ulcer	ORPHA:424019
Laryngotracheoesophageal Cleft Type 4	Abnormality of the spleen, Cachexia	ORPHA:93941
Liposarcoma	Weight loss	ORPHA:69078
Meige Disease	Recurrent bacterial skin infections, Recurrent skin infections, Skin ulcer	ORPHA:90186
Symptomatic Form Of Hfe-Related Hemochromatosis	Splenomegaly, Elevated transferrin saturation, Increased circulating ferritin concentration, Weig...	ORPHA:465508
Benign Recurrent Intrahepatic Cholestasis	Weight loss	ORPHA:65682
Lysinuric Protein Intolerance	Thrombocytopenia, Decreased circulating antibody level, Hepatosplenomegaly, Leukopenia, Recurrent...	ORPHA:470
Bartter Syndrome Type 4	Hyponatremia, Hypochloremia, Hypokalemia, Increased circulating renin level, Hypomagnesemia	ORPHA:89938
Igg4-Related Retroperitoneal Fibrosis	Normocytic anemia, Deep dermal perivascular inflammatory infiltrate, Psoriasiform dermatitis, Rhe...	ORPHA:49041
Peritoneal Cystic Mesothelioma	Weight loss	ORPHA:168816
Malt Lymphoma	Recurrent respiratory infections, Anemia, Weight loss	ORPHA:52417
19Q13.11 Microdeletion Syndrome	Recurrent respiratory infections, Failure to thrive, Cachexia	ORPHA:217346
Lymphoid Interstitial Pneumonia	Skin rash, Eczema, Autoimmunity, Autoimmune antibody positivity, Bronchiectasis, Keratoconjunctiv...	ORPHA:79128
Castleman Disease	Elevated circulating C-reactive protein concentration, Thrombocytopenia, Weight loss, Decreased m...	ORPHA:160
Attenuated Chédiak-Higashi Syndrome	Skin ulcer	ORPHA:352723
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Recurrent bacterial infections	OMIM:241410
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques	Erythema, Skin ulcer	ORPHA:659
Systemic Capillary Leak Syndrome	Leukocytosis, Weight loss	ORPHA:188
Malignant Peritoneal Mesothelioma	Weight loss	ORPHA:168811
Dermatomyositis	Pericarditis, Abnormal eosinophil morphology, Myocarditis, Erythema, Skin ulcer, Arthritis, Dry skin	ORPHA:221
Diffuse Cutaneous Systemic Sclerosis	Arthritis, Skin ulcer	ORPHA:220393
Marburg Hemorrhagic Fever	Lymphopenia, Reticulocytosis, Orchitis, Neutrophilia in presence of infection, Lymphadenopathy, L...	ORPHA:99826
Thymic Neuroendocrine Tumor	Hypercalcemia, Weight loss	ORPHA:97289
Chromomycosis	Recurrent bacterial infections	ORPHA:182
Rabson-Mendenhall Syndrome	Hypokalemia, Increased C-peptide level	ORPHA:769
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Hypokalemia, Decreased circulating renin level	ORPHA:90793
Amoebiasis Due To Free-Living Amoebae	Sinusitis, Pneumonia, Pustule, Skin ulcer, Granuloma, Infectious encephalitis, Increased red bloo...	ORPHA:68
Neuropathy, Hereditary Sensory And Autonomic, Type V	Septic arthritis, Osteoarthritis, Osteomyelitis, Acral ulceration	OMIM:608654
Calciphylaxis	Skin ulcer	ORPHA:280062
Crimean-Congo Hemorrhagic Fever	Pancytopenia, Neutrophilia, Parotitis, Orchitis, Splenomegaly, Leukocytosis, Lymphadenopathy, Inc...	ORPHA:99827
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome	Myotonia	ORPHA:391307
Ectodermal Dysplasia-Blindness Syndrome	Keratoconjunctivitis sicca, Skin ulcer	ORPHA:1806
Lysosomal Acid Lipase Deficiency	Hyponatremia, Hypertriglyceridemia, Bone-marrow foam cells, Cachexia, Hypersplenism, Vacuolated l...	ORPHA:275761
Familial Hypoaldosteronism	Hyponatremia, Hyperkalemia, Increased circulating renin level	ORPHA:427
Werner Syndrome	Lack of skin elasticity, Skin ulcer	ORPHA:902
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency	Hypokalemia, Decreased circulating renin level	OMIM:202010
Wiedemann-Rautenstrauch Syndrome	Cryptorchidism, Hypoplasia of the thymus, Increased serum testosterone level	OMIM:264090
Myopathy, Epilepsy, And Progressive Cerebral Atrophy	Thymus hyperplasia	OMIM:619036
Autoimmune Disease, Multisystem, With Facial Dysmorphism	Hypersplenism, Splenomegaly, Pancytopenia, Decreased circulating IgA level	OMIM:613385
Progeroid Short Stature With Pigmented Nevi	Diabetes mellitus, Impaired T cell function, Delayed puberty	OMIM:176690
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Skin ulcer, Panniculitis, Scaling skin, Leukemia, Dry skin, Erysipelas	ORPHA:2526
Cystinosis, Nephropathic	Hyponatremia, Reduced blood urea nitrogen, Hypophosphatemia, Hypokalemia, Hypomagnesemia, Hypopho...	OMIM:219800
Microsporidiosis	Brain abscess, Cachexia, Abnormality of the spleen, Decreased proportion of CD4-positive helper T...	ORPHA:2552
Classic Pantothenate Kinase-Associated Neurodegeneration	Weight loss	ORPHA:216866
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome	Severe failure to thrive, Cachexia	ORPHA:371364
Plague	Chapped lip, Skin rash, Erythema nodosum, Lymphadenitis, Splenomegaly, Enterocolitis, Endocarditi...	ORPHA:707
Nijmegen Breakage Syndrome	Recurrent sinopulmonary infections, Recurrent respiratory infections, Hemolytic anemia, Autoimmun...	ORPHA:647
Tetrasomy 12P	Cachexia	ORPHA:884
Aredyld Syndrome	Splenomegaly, Cachexia	ORPHA:1133
Peripheral Primitive Neuroectodermal Tumor	Elevated circulating alpha-fetoprotein concentration, Elevated carcinoma antigen 125 level, Anemi...	ORPHA:370348
Anaplastic Thyroid Carcinoma	Weight loss	ORPHA:142
Hereditary Amyloidosis With Primary Renal Involvement	Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ...	ORPHA:85450
Whipple Disease	Hyponatremia, Cachexia, Splenomegaly, Infectious encephalitis, Anemia	ORPHA:3452
Solitary Fibrous Tumor	Hypophosphatemic rickets, Reduced C-peptide level, Weight loss	ORPHA:2126
Hereditary Xanthinuria	Arthropathy, Rheumatoid arthritis, Gout	ORPHA:3467
Infantile Krabbe Disease	Failure to thrive, Cachexia, Recurrent infections	ORPHA:206436
Bloom Syndrome	Elevated hemoglobin A1c, Decreased circulating total IgM, Leukemia, Decreased circulating IgG lev...	OMIM:210900
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome	Weight loss	ORPHA:79127
Acquired Central Diabetes Insipidus	Weight loss	ORPHA:95626
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9	Hyponatremia, Hypokalemia	OMIM:618426
Infantile Systemic Hyalinosis	Recurrent bacterial infections	ORPHA:2176
Okur-Chung Neurodevelopmental Syndrome	Pachygyria, Simplified gyral pattern, Decreased circulating antibody level, Decreased circulating...	OMIM:617062
Nodular Non-Suppurative Panniculitis	Splenomegaly, Weight loss	ORPHA:33577
Malakoplakia	Inflammatory abnormality of the skin, Skin rash, Orchitis, Urinary bladder inflammation, Skin ulcer	ORPHA:556
Rat-Bite Fever	Meningitis, Sepsis, Anemia, Weight loss	ORPHA:31205
Neuropathy, Congenital Hypomyelinating, 3	Cachexia	OMIM:618186
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy	Cachexia	ORPHA:2774
Sponastrime Dysplasia	Recurrent pneumonia, Neutropenia, Decreased circulating antibody level	ORPHA:93357
Nephroblastoma	Weight loss	ORPHA:654
Yao Syndrome	Weight loss	OMIM:617321
Parkinson Disease 4, Autosomal Dominant	Weight loss	OMIM:605543
Oculocerebrorenal Syndrome Of Lowe	Hyponatremia, Hypoammonemia, Hypokalemia, Hypophosphatemia, Hypercholesterolemia	ORPHA:534
Sporadic Pheochromocytoma/Secreting Paraganglioma	Hypercalcemia, Weight loss	ORPHA:276621
Polymyositis	Elevated circulating creatine kinase concentration, Weight loss	ORPHA:732
Neuroleptic Malignant Syndrome	Hyponatremia, Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia...	ORPHA:94093
Truncus Arteriosus	Adrenocortical abnormality, Hypoplasia of the thymus	ORPHA:3384
Birk-Landau-Perez Syndrome	Hyperkalemia, Increased circulating creatine kinase MB isoform	OMIM:617595
Perry Syndrome	Weight loss	OMIM:168605
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Transient neutropenia, Chronic neutropenia	ORPHA:500095
Secondary Intestinal Lymphangiectasia	Decreased circulating IgG1 level, Decreased circulating antibody level, Decreased circulating tot...	ORPHA:90363
Gitelman Syndrome	Hypokalemia, Hypermagnesemia, Hypocalcemia, Hypomagnesemia	ORPHA:358
3-Methylglutaconic Aciduria, Type Viii	Neutropenia	OMIM:617248
Spastic Paraplegia 79B, Autosomal Recessive	Myotonia	OMIM:615491
Wild Type Attr Amyloidosis	Weight loss	ORPHA:330001
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Pancytopenia, Abnormality of the spleen, Thrombocytopenia, Splenomegaly, Skin ulcer, Hepatospleno...	ORPHA:2072
Systemic Sclerosis	Pericarditis, Osteomyelitis, Recurrent skin infections, Glomerulonephritis, Myocarditis, Digital ...	ORPHA:90291
Hereditary Acrokeratotic Poikiloderma	Eczema, Pustule, Erythema, Skin ulcer, Keratoconjunctivitis	ORPHA:2907
Oromandibular Dystonia	Weight loss	ORPHA:93958
Familial Keratoacanthoma	Skin ulcer	ORPHA:493
Thauvin-Robinet-Faivre Syndrome	Transient neutropenia	OMIM:617107
Congenital Tufting Enteropathy	Failure to thrive, Weight loss	ORPHA:92050
X-Linked Creatine Transporter Deficiency	Abnormal circulating creatine concentration, Cachexia	ORPHA:52503
Fatal Familial Insomnia	Weight loss	OMIM:600072
Medullary Thyroid Carcinoma	Weight loss	ORPHA:1332
Budd-Chiari Syndrome	Splenomegaly, Weight loss	ORPHA:131
Igg4-Related Dacryoadenitis And Sialadenitis	Increased circulating IgG4 level, Increased circulating IgA level, Weight loss, Increased circula...	ORPHA:79078
Congenital Disorder Of Glycosylation, Type Ia	Thrombocytosis, Decreased circulating IgG level, Decreased circulating IgA level	OMIM:212065
Caroli Disease	Liver abscess, Conjugated hyperbilirubinemia, Splenomegaly, Leukocytosis, Weight loss, Abnormal c...	ORPHA:53035
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Accessory spleen, Lymphopenia, Severe B lymphocytopenia, Thrombocytopenia, Decreased circulating ...	OMIM:620005
Addison Disease	Normocytic anemia, Hyponatremia, Hypercalcemia, Thiamine-responsive megaloblastic anemia, Hyperka...	ORPHA:85138
Vipoma	Hypokalemia, Hypercalcemia	ORPHA:97282
X-Linked Alport Syndrome-Diffuse Leiomyomatosis	Recurrent respiratory infections, Failure to thrive, Weight loss	ORPHA:1018
Generalized Glucocorticoid Resistance Syndrome	Hypokalemia	ORPHA:786
Nelson Syndrome	Hypokalemia	ORPHA:199244
Neuropathy, Hereditary Sensory, With Spastic Paraplegia, Autosomal Recessive	Foot osteomyelitis, Acral ulceration	OMIM:256840
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)	Elevated circulating deoxyuridine concentration, Cachexia, Weight loss, Elevated circulating thym...	OMIM:603041
Distal Renal Tubular Acidosis	Hypokalemia	ORPHA:18
Chime Syndrome	Erythema, Skin ulcer, Acute leukemia	ORPHA:3474
Renal Hypoplasia, Bilateral	Hyponatremia, Hyperkalemia	ORPHA:97362
Malignant Hyperthermia Of Anesthesia	Elevated creatine kinase after exercise, Hyperphosphatemia, Hyperkalemia	ORPHA:423
Nocardiosis	Brain abscess, Liver abscess, Meningitis, Severe infection, Unusual CNS infection, Sepsis, Weight...	ORPHA:31204
Polycythemia Vera	Splenomegaly, Acute leukemia, Weight loss	ORPHA:729
Short Syndrome	Weight loss	ORPHA:3163
Aspartylglucosaminuria	Vacuolated lymphocytes, Acne, Neutropenia	OMIM:208400
8P23.1 Microdeletion Syndrome	Obesity, Weight loss	ORPHA:251071
Lipodystrophy, Congenital Generalized, Type 4	Splenomegaly, Decreased circulating IgA level	OMIM:613327
Chronic Graft Versus Host Disease	Fasciitis, Pancytopenia, Urinary bladder inflammation, Erythema, Bronchiectasis, Skin ulcer, Arth...	ORPHA:99921
Scorpion Envenomation	Hypokalemia, Increased circulating NT-proBNP concentration, Increased circulating creatine kinase...	ORPHA:466677
Hajdu-Cheney Syndrome	Splenomegaly, Dry skin, Periodontitis, Skin ulcer	ORPHA:955
Adult Syndrome	Dry skin, Skin ulcer	ORPHA:978
Primary Hepatic Neuroendocrine Carcinoma	Elevated carcinoembryonic antigen level, Elevated circulating alpha-fetoprotein concentration, We...	ORPHA:100085
Hereditary Pheochromocytoma-Paraganglioma	Hypercalcemia, Weight loss	ORPHA:29072
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency	Hyponatremia, Hyperkalemia, Increased circulating renin level	ORPHA:90791
Silver-Russell Syndrome	Failure to thrive in infancy, Obesity, Cachexia	ORPHA:813
Cystic Fibrosis	Recurrent Aspergillus infections, Recurrent respiratory infections, Recurrent Burkholderia cepaci...	ORPHA:586
Tsh-Secreting Pituitary Adenoma	Hypokalemia	ORPHA:91347
Autoimmune Pulmonary Alveolar Proteinosis	Abnormal circulating protein concentration, Weight loss	ORPHA:747
Insensitivity To Pain, Congenital, With Anhidrosis	Keratitis, Osteomyelitis, Acral ulceration	OMIM:256800
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Absent nipple, Aplasia of the thymus, Congenital hypothyroidism, Hydrocele testis, Hypoplastic ni...	OMIM:620186
Proximal Renal Tubular Acidosis	Hypokalemia, Bicarbonaturia	ORPHA:47159
Fanconi Anemia	Pyridoxine-responsive sideroblastic anemia, Recurrent urinary tract infections, Weight loss, Anem...	ORPHA:84
Oculogastrointestinal Muscular Dystrophy	Cachexia	ORPHA:1876
Monosomy 18Q	Decreased circulating IgA level	ORPHA:1600
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Decreased circulating total IgM, Decreased circulating IgA level	ORPHA:369837
Mucolipidosis Type Ii	Hepatosplenomegaly, Recurrent respiratory infections, Splenomegaly, Weight loss	ORPHA:576
Dubowitz Syndrome	Acute lymphoblastic leukemia, Decreased circulating IgG level, Aplastic anemia, Decreased circula...	OMIM:223370
Neuroendocrine Tumor Of The Colon	Weight loss	ORPHA:100080
Juvenile Amyotrophic Lateral Sclerosis	Cachexia	ORPHA:300605
Renal Nutcracker Syndrome	Anemia, Weight loss	ORPHA:71273
Familial Hyperthyroidism Due To Mutations In Tsh Receptor	Small for gestational age, Weight loss	ORPHA:424
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency	Hyponatremia, Hyperkalemia	ORPHA:90790
Familial Colorectal Cancer Type X	Abnormal circulating creatine concentration, Weight loss	ORPHA:440437
Xfe Progeroid Syndrome	Failure to thrive, Hypoalbuminemia, Cachexia	OMIM:610965
Spondyloepimetaphyseal Dysplasia, Krakow Type	Decreased circulating total IgM	OMIM:618162
Bronchial Neuroendocrine Tumor	Weight loss	ORPHA:97287
Leprechaunism	Hypokalemia, Increased circulating renin level	ORPHA:508
Rett Syndrome	Cachexia	OMIM:312750
Glossopharyngeal Neuralgia	Weight loss	ORPHA:221098
X-Linked Intellectual Disability, Cabezas Type	Obesity, Cachexia	ORPHA:85293
Klatskin Tumor	Weight loss	ORPHA:99978
Gerstmann-Straussler Disease	Weight loss	OMIM:137440
Neuropathy, Hereditary Sensory And Autonomic, Type Iia	Acral ulceration	OMIM:201300
Neuroendocrine Tumor Of Stomach	Iron deficiency anemia, Weight loss	ORPHA:100075
Fryns-Smeets-Thiry Syndrome	Cachexia	ORPHA:2058
Neuroendocrine Tumor Of The Rectum	Weight loss	ORPHA:100081
Neuroendocrine Tumor Of Anal Canal	Weight loss	ORPHA:100082
Reactive Arthritis	Recurrent urinary tract infections, Weight loss	ORPHA:29207
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis	Mildly elevated creatine kinase, Weight loss	OMIM:607459
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects	Conjugated hyperbilirubinemia, Hyperkalemia	OMIM:608885
Pancreatoblastoma	Elevated maternal serum alpha-fetoprotein, Weight loss	ORPHA:677
Familial Pancreatic Carcinoma	Hepatosplenomegaly, Peritoneal abscess, Weight loss	ORPHA:1333
Leprosy	Abnormality of the spleen, Penetrating foot ulcers, Uveitis, Acral ulceration, Iritis	ORPHA:548
Epidermolysis Bullosa, Junctional 2C, Laryngoonychocutaneous	Skin ulcer	OMIM:245660
Tubulointerstitial Nephritis And Uveitis Syndrome	Normocytic anemia, Elevated circulating C-reactive protein concentration, Elevated circulating cr...	ORPHA:91500
Carney-Stratakis Syndrome	Weight loss	ORPHA:97286
Pancreatic Triacylglycerol Lipase Deficiency	Iron deficiency anemia, Weight loss	ORPHA:309031
Lynch Syndrome	Weight loss	ORPHA:144
Erdheim-Chester Disease	Anemia, Weight loss	ORPHA:35687
Congenital Fiber-Type Disproportion Myopathy	Recurrent respiratory infections, Failure to thrive, Weight loss	ORPHA:2020
Atrial Septal Defect, Coronary Sinus Type	Recurrent bacterial infections	ORPHA:99104
Ethylene Glycol Poisoning	Hyperkalemia, Hypocalcemia	ORPHA:31826
Glucagonoma	Acanthocytosis, Normochromic anemia, Hypercalcemia, Weight loss	ORPHA:97280
Somatostatinoma	Hypercalcemia, Hypochromic microcytic anemia, Weight loss	ORPHA:97283
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency	Hyponatremia, Hyperkalemia	OMIM:201810
Malignant Atrophic Papulosis	Weight loss	ORPHA:679
Stuve-Wiedemann Syndrome 1	Pulmonary arterial hypertension, Myotonia	OMIM:601559
Charcot-Marie-Tooth Disease Type 4B2	Penetrating foot ulcers	ORPHA:99956
Parathyroid Carcinoma	Hypophosphatemia, Hypercalcemia, Weight loss	ORPHA:143
Parkes Weber Syndrome	Scaling skin, Skin ulcer	ORPHA:90307
Familial Gestational Hyperthyroidism	Weight loss	ORPHA:99819
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Hyponatremia, Hyperkalemia, Increased circulating renin level, Abnormal circulating cholesterol c...	ORPHA:168558
Hereditary Late-Onset Parkinson Disease	Weight loss	ORPHA:411602
Idiopathic Camptocormia	Myotonia	ORPHA:1320
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Hyponatremia, Hyperkalemia, Increased circulating renin level, Abnormal circulating cholesterol c...	ORPHA:289548
Ileal Neuroendocrine Tumor	Iron deficiency anemia, Weight loss	ORPHA:100078
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Hyponatremia, Hyperkalemia	ORPHA:293978
Ppoma	Hypercalcemia, Weight loss	ORPHA:97278
Pulmonary Alveolar Microlithiasis	Abnormal circulating calcium concentration, Increased circulating surfactant protein level, Abnor...	ORPHA:60025
Atrial Septal Defect, Ostium Secundum Type	Recurrent bacterial infections	ORPHA:99103
Juvenile Polyposis Of Infancy	Anemia, Refractory anemia, Hypoalbuminemia, Cachexia	ORPHA:79076
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome	Cachexia	ORPHA:3217
Schwartz-Jampel Syndrome	Pulmonary arterial hypertension, Arrhythmia, Myotonia	ORPHA:800
Proteus Syndrome	Thymus hyperplasia, Testicular neoplasm, Neoplasm of the thymus, Splenomegaly, Enlarged polycysti...	ORPHA:744
Zollinger-Ellison Syndrome	Hypercalcemia, Weight loss	ORPHA:913
Oculopharyngodistal Myopathy 1	Elevated circulating creatine kinase concentration, Weight loss	OMIM:164310
Behçet Disease	Splenomegaly, Meningitis, Infectious encephalitis, Weight loss	ORPHA:117
Gallbladder Neuroendocrine Tumor	Weight loss	ORPHA:100086
Grfoma	Hypercalcemia, Weight loss	ORPHA:97261
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Recurrent respiratory infections, Recurrent bacterial infections, Recurrent infections	ORPHA:2273
Bannayan-Riley-Ruvalcaba Syndrome	Cachexia	ORPHA:109
Exercise-Induced Malignant Hyperthermia	Hypocalcemia, Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration	ORPHA:466650
Isolated Permanent Neonatal Diabetes Mellitus	Failure to thrive, Weight loss	ORPHA:99885
Camurati-Engelmann Disease	Cachexia, Splenomegaly, Leukopenia, Slender build, Anemia	ORPHA:1328
Trisomy 18	Cachexia	ORPHA:3380
Atypical Werner Syndrome	Lack of skin elasticity, Skin ulcer	ORPHA:79474
Hemorrhagic Fever-Renal Syndrome	Hyperkalemia, Hyperphosphatemia, Elevated circulating creatinine concentration	ORPHA:340
Tropical Pancreatitis	Weight loss	ORPHA:103918
Xeroderma Pigmentosum-Cockayne Syndrome Complex	Cachexia	ORPHA:220295
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Hyponatremia, Hyperkalemia, Weight loss, Hypochloremia, Failure to thrive	ORPHA:90794
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Osteomyelitis leading to amputation due to slow healing fractures, Acral ulceration	OMIM:256810
Seckel Syndrome	Cachexia	ORPHA:808
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Decreased circulating total IgM, Severe B lymphocytopenia, B lymphocytopenia	ORPHA:83617
Adenocarcinoma Of The Anal Canal	Skin ulcer	ORPHA:424016
Multiple Endocrine Neoplasia Type 1	Hypercalcemia, Weight loss	ORPHA:652
Choreoacanthocytosis	Elevated circulating creatine kinase concentration, Acanthocytosis, Abnormal erythrocyte enzyme l...	ORPHA:2388
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome	Cachexia	ORPHA:1969
Cockayne Syndrome	Splenomegaly, Hyperuricemia, Cachexia	ORPHA:191
Vascular Ehlers-Danlos Syndrome	Hypokalemia	ORPHA:286
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Hyponatremia, Hyperlipidemia, Hyperkalemia	ORPHA:293987
Stickler Syndrome	Recurrent respiratory infections, Slender build, Cachexia	ORPHA:828
Hereditary Sensory And Autonomic Neuropathy Type 4	Recurrent Staphylococcus aureus infections, Tooth abscess, Abscess, Anemia	ORPHA:642
Hutchinson-Gilford Progeria Syndrome	Severe failure to thrive, Weight loss	ORPHA:740
Marfan Syndrome	Slender build, Cachexia	ORPHA:558
Goodpasture Syndrome	Increased blood urea nitrogen, Anemia, Weight loss	OMIM:233450
African Trypanosomiasis	Splenomegaly, Hepatosplenomegaly, Weight loss	ORPHA:3385
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Hyponatremia, Hyperkalemia, Decreased circulating renin level	OMIM:201750
Split Cord Malformation	Penetrating foot ulcers	ORPHA:573278
Norrie Disease	Failure to thrive, Cachexia	ORPHA:649

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 Pik3cg

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 Pik3cg.

There are 6 publications which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
ACTH treatment promotes murine cardiac allograft acceptance.	JCI insight (July 2021)	Pik3cg^{tm1a(EUCOMM)Wtsi}	PMC8410061
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation.	G3 (Bethesda, Md.) (June 2020)	Pik3cg^{tm1a(EUCOMM)Wtsi}	PMC7263671
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis.	Nature communications (August 2019)	Pik3cg^{tm1a(EUCOMM)Wtsi}	PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss.	PLoS biology (April 2019)	Pik3cg^{tm1a(EUCOMM)Wtsi}	PMC6459510
Genome wide in vivo mouse screen data from studies to assess host regulation of metastatic colonisation.	Scientific data (September 2017)	Pik3cg^{tm1a(EUCOMM)Wtsi}	PMC5827107
PI3Kγ activity in leukocytes promotes adipose tissue inflammation and early-onset insulin resistance during obesity.	Science signaling (July 2017)	Pik3cg^{tm1a(EUCOMM)Wtsi}	28720716

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele	Allele Type	Produced
Pik3cg^{tm1a(EUCOMM)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, Targeting vectors, ES Cells
Pik3cg^{tm1c(EUCOMM)Wtsi}	Wild type floxed exon (post-Flp)	Mice
Pik3cg^{tm1e(EUCOMM)Wtsi}	Targeted, non-conditional allele	ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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