Gene Summary

Name:
zinc finger CCCH type containing 12A
Synonyms:
Mcpip1

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
increased mean corpuscular volume Zc3h12atm1b(EUCOMM)Hmgu HET   Early adult 2.61×10-05
preweaning lethality, incomplete penetrance Zc3h12atm1b(EUCOMM)Hmgu HOM   Early adult 0.00380

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lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Human diseases caused by Zc3h12a mutations

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

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

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Zc3h12a by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive
Hypochromia, Pyridoxine-responsive sideroblastic anemia, Sideroblastic anemia, Decreased mean cor... OMIM:206000
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Hypochromia, Decreased mean corpuscular volume, Anemia OMIM:205950
Methemoglobin Reductase Deficiency
Abnormal erythrocyte morphology OMIM:250700
Atr-16 syndrome
Abnormal erythrocyte morphology DECIPHER:65
Anemia, Hypochromic Microcytic, With Iron Overload 1
Hypochromia, Decreased mean corpuscular volume, Anemia OMIM:206100
Immunodeficiency 64
Abnormal CD4:CD8 ratio, Anti-thyroid peroxidase antibody positivity, Anti-thyroglobulin antibody ... OMIM:618534
Autoimmune Lymphoproliferative Syndrome
Increased circulating IgG level, Eosinophilia, Iron deficiency anemia, Increased circulating IgM ... OMIM:601859
Diamond-Blackfan Anemia-Like
Pure red cell aplasia, Steroid-responsive anemia OMIM:617911
Immunodeficiency 27A
Increased circulating IgM level, Thrombocytosis, Increased inflammatory response, Leukocytosis, S... OMIM:209950
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Thrombocytopenia, Acute myeloid leukemia, Increased mean corpuscular volume OMIM:252270
Autoimmune Lymphoproliferative Syndrome, Type Iia
Increased circulating IgG level, Increased B cell count, Eosinophilia, Lymphadenopathy, Iron defi... OMIM:603909
Diamond-Blackfan Anemia 19
Erythroid hypoplasia, Anemia, Steroid-responsive anemia OMIM:618312
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Increased circulating IgM level, Autoimmune thrombocytopenia, Bronchiectasis, Autoimmune hemolyti... OMIM:619220
Transient Erythroblastopenia Of Childhood
Transient erythroblastopenia, Anemia OMIM:227050
Immunodeficiency 14A, Autosomal Dominant
Decreased proportion of class-switched memory B cells, T lymphocytopenia, Increased circulating I... OMIM:615513
Immunodeficiency 25
T lymphocytopenia, Recurrent pneumonia, Increased circulating IgM level, Increased circulating Ig... OMIM:610163
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Recurrent pneumonia, Thrombocytosis, Autoimmunity, Decreased circulating antibody level, Lymphope... OMIM:617780
Diamond-Blackfan Anemia 3
Increased mean corpuscular volume, Macrocytic anemia, Persistence of hemoglobin F, Reticulocytopenia OMIM:610629
Immunodeficiency 14B, Autosomal Recessive
Inflammation of the large intestine, Monocytosis, Thrombocytosis, Leukocytosis, Recurrent sinusit... OMIM:619281
Lymphoma, Hodgkin, Classic
Impaired lymphocyte transformation with phytohemagglutinin, Polyclonal elevation of IgM OMIM:236000
Immunodeficiency 24
Partial absence of specific antibody response to tetanus vaccine, Defective T cell proliferation,... OMIM:615897
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Autoimmune hemolytic anemia, Increased circulating antibody level, Autoimmunity, Recurrent otitis... OMIM:618495
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Congenital agranulocytosis, Monocytosis, Thrombocytosis, Acute monocytic leukemia, Increased circ... OMIM:202700
Schnitzler Syndrome
Skin rash, Increased circulating IgM level, Leukocytosis, Hepatomegaly, Anemia, Splenomegaly, Lym... ORPHA:37748
Immunodeficiency 72 With Autoinflammation
Increased circulating IgE level, Bronchiectasis, Recurrent otitis media, Increased circulating Ig... OMIM:618982
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Lymphocytosis, T lymphocytopenia, Increased circulating IgE level, Decreased proportion of CD8-po... ORPHA:169154
Immunodeficiency With Hyper-Igm, Type 3
Impaired memory B cell generation, Increased circulating IgM level, Decreased circulating IgE, Ne... OMIM:606843
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Impaired lymphocyte transformation with phytohemagglutinin, Polyclonal elevation of IgM, Monoclon... OMIM:153600
Immunoerythromyeloid Hypoplasia
Erythroid hypoplasia, Decreased circulating IgG level OMIM:242880
Sting-Associated Vasculopathy, Infantile-Onset
Skin rash, Pustule, Thrombocytosis, Lymphopenia, Paratracheal lymphadenopathy, Follicular hyperpl... OMIM:615934
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of memory ... OMIM:615559
Lymphoproliferative Syndrome, X-Linked, 1
Lymphocytosis, Hemophagocytosis, Increased circulating IgM level, Decreased circulating antibody ... OMIM:308240
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Neutropenia, Thrombocytopenia, Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpu... OMIM:619041
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Thrombocytopenia, Glomerulonephritis, Increased circulating IgA level OMIM:314000
Autoinflammation With Arthritis And Dyskeratosis
Autoimmune hemolytic anemia, Increased circulating IgA level, Thyroiditis, Growth delay, Uveitis,... OMIM:617388
Dehydrated Hereditary Stomatocytosis 2
Hemolytic anemia, Increased mean corpuscular hemoglobin concentration, Reticulocytosis, Anisopoik... OMIM:616689
Intrinsic Factor Deficiency
Megaloblastic anemia, Megaloblastic erythroid hyperplasia, Increased mean corpuscular volume OMIM:261000
Caspase 8 Deficiency
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:607271
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Absent tonsils, T lymphocytopenia, Anti-thyroid peroxidase antibody positivity, Increased circula... ORPHA:277
Ras-Associated Autoimmune Leukoproliferative Disorder
Lymphocytosis, Monocytosis, Hemolytic anemia, Autoimmune thrombocytopenia, Autoimmunity, Increase... OMIM:614470
Autoimmune Lymphoproliferative Syndrome
Lymphocytosis, Abnormal proportion of CD4-positive T cells, Abnormal serum interleukin level, Dec... ORPHA:3261
Histiocytosis, Familial Lipochrome
Increased circulating antibody level, Histiocytosis OMIM:235900
Diamond-Blackfan Anemia 13
Elevated red cell adenosine deaminase level, Normocytic anemia OMIM:615909
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Anemia, Sideroblastic, 4
Sideroblastic anemia, Abnormal erythrocyte morphology OMIM:182170
Familial Pseudohyperkalemia
Reticulocytosis, Episodic hemolytic anemia, Stomatocytosis, Increased mean corpuscular volume ORPHA:90044
Immunodeficiency, Common Variable, 1
Decreased proportion of class-switched memory B cells, Recurrent pneumonia, Bronchiectasis, Recur... OMIM:607594
Immunodeficiency With Hyper-Igm, Type 1
Impaired memory B cell generation, Cirrhosis, Increased circulating IgM level, Hemolytic anemia, ... OMIM:308230
Immunodeficiency With Hyper-Igm, Type 5
Epididymitis, Increased circulating IgM level, Decreased circulating IgA level, Impaired Ig class... OMIM:608106
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Increased circulating antibody level, Extramedullary hematopoiesis, Neutropenia, Thrombocytopenia... OMIM:615285
Acquired Idiopathic Sideroblastic Anemia
Hypochromic anemia, Thrombocytosis, Leukocytosis, Erythroid hyperplasia, Neutropenia, Hyposegment... ORPHA:75564
Immunodeficiency 52
Coombs-positive hemolytic anemia, Recurrent pneumonia, Autoimmune thrombocytopenia, Bronchiectasi... OMIM:617514
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Increased circulating IgM level, Increased circulating IgE level, Decreased proportion of CD8-pos... OMIM:617241
Elliptocytosis 3
Chronic hemolytic anemia, Elliptocytosis, Decreased mean corpuscular volume, Pyropoikilocytosis OMIM:617948
Immunodeficiency 69
Skin rash, Thrombocytosis, Leukocytosis, Pancytopenia, Anemia, Splenomegaly, Hepatosplenomegaly OMIM:618963
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive
Decreased proportion of class-switched memory B cells, Cutaneous abscess, Increased circulating I... OMIM:618944
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Autoimmune hemolytic anemia, Increased circulating antibody level, Lymphopenia, Plasmacytosis, Pn... OMIM:247800
Pgm3-Cdg
Cutaneous abscess, Bronchiectasis, Decreased proportion of CD4-positive helper T cells, Neutropen... ORPHA:443811
Cernunnos-Xlf Deficiency
T lymphocytopenia, Autoimmunity, Decreased circulating antibody level, Lymphopenia, Growth delay,... ORPHA:169079
Neutropenia, Chronic Familial
Increased circulating antibody level, Periodontitis, Neutropenia OMIM:162700
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Immunodeficiency, Common Variable, 2
Recurrent pneumonia, Partial absence of specific antibody response to unconjugated pneumococcus v... OMIM:240500
Immunoglobulin A Deficiency 2
Autoimmunity, Abnormal lymphocyte morphology, Decreased circulating IgA level OMIM:609529
Asthma, Short Stature, And Elevated Iga
Short stature, Increased circulating IgA level OMIM:208600
Hepatic Venoocclusive Disease With Immunodeficiency
Absence of lymph node germinal center, Decreased circulating IgG level, Abnormality of the liver OMIM:235550
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Abnormally low T cell receptor excision circle level, B lymphocytopenia, Decreased circulating to... OMIM:618987
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
X-Linked Lymphoproliferative Disease
Lymphocytosis, Pancytopenia, Histiocytosis, Increased B cell count, Myocarditis, Lymphadenopathy,... ORPHA:2442
Heinz Body Anemias
Nonspherocytic hemolytic anemia, Heinz body anemia, Heinz bodies OMIM:140700
B-Cell Expansion With Nfkb And T-Cell Anergy
Decreased specific antibody response to polysaccharide vaccine, Decreased circulating IgA level, ... OMIM:616452
Severe Combined Immunodeficiency, X-Linked
T lymphocytopenia, Skin rash, Chronic oral candidiasis, Decreased circulating IgE, Impaired lymph... OMIM:300400
Immunodeficiency 48
Eczematoid dermatitis, Panhypogammaglobulinemia, Pneumonia, Hepatomegaly, Splenomegaly OMIM:269840
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Decreased mean corpuscular hemoglobin concentration, Stomatocytosis, Reticulocy... ORPHA:3203
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
T lymphocytopenia, Decreased circulating IgG level OMIM:242870
Boutonneuse Fever
Skin rash, Increased circulating IgM level, Maculopapular exanthema, Thrombocytopenia, Increased ... ORPHA:83313
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Skin rash, Autoimmunity, Decreased circulating antibody level, Autoimmune hemolytic anemia, Lymph... ORPHA:331206
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Skin rash, Increased circulating IgM level, Leukocytosis, Panniculitis, Increased proportion of C... OMIM:617099
Autoimmune Lymphoproliferative Syndrome, Type V
Autoimmune thrombocytopenia, Bronchiectasis, Autoimmune hemolytic anemia, Decreased circulating a... OMIM:616100
Immunodeficiency 60
Decreased proportion of memory B cells, Bronchiectasis, Decreased circulating IgE, Decreased baso... OMIM:618394
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased CD69 upregulation upon TCR activation, Autoimmune thrombocytopenia, Decreased specific ... OMIM:300853
Juvenile Arthritis
Leukocytosis, Skin rash, Thrombocytosis, Antinuclear antibody positivity OMIM:618795
Persistent Polyclonal B-Cell Lymphocytosis
Decreased circulating total IgM, Lymphocytosis, Hepatomegaly, Splenomegaly OMIM:606445
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Erythroid hypoplasia, Thrombocytosis, Abnormal erythrocyte morphology, Acute myeloid leukemia, An... ORPHA:86841
Immunodeficiency, Common Variable, 3
Decreased proportion of class-switched memory B cells, Decreased circulating total IgM, Recurrent... OMIM:613493
Mu-Heavy Chain Disease
Increased circulating antibody level, Hepatomegaly, Abnormal B cell count, Anemia, Splenomegaly, ... ORPHA:100024
Diamond-Blackfan Anemia 8
Increased mean corpuscular volume, Neutropenia, Macrocytic anemia OMIM:612563
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Skin rash, Decreased proportion of CD4-positive helper T cells, Recurrent bacterial skin infectio... ORPHA:276
Lymphoid System Deterioration, Progressive
Decreased circulating total IgM, Abnormal T cell morphology, Lymphopenia, Decreased circulating I... OMIM:247630
Iga Pemphigus
Pustule, Cutaneous abscess, Neutrophilic infiltration of the skin, Ulcerative colitis, Monoclonal... ORPHA:555905
Transcobalamin Deficiency
Decreased circulating antibody level, Lymphopenia, Neutropenia, Thrombocytopenia, Pancytopenia, D... ORPHA:859
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Thrombocytosis, Microcytic anemia, Colitis, Pancytopenia, Cystic acne, Arthritis, Sterile abscess... OMIM:604416
Chilblain Lupus
Skin rash, Systemic lupus erythematosus, Increased circulating antibody level, Discoid lupus rash... ORPHA:90280
Wiskott-Aldrich Syndrome, Autosomal Dominant
Iron deficiency anemia, Inflammation of the large intestine, Decreased mean platelet volume, Incr... OMIM:600903
Immunodeficiency, Common Variable, 11
Decreased proportion of class-switched memory B cells, Inflammation of the large intestine, Incre... OMIM:615767
Adult Idiopathic Neutropenia
Monocytosis, Monocytopenia, Increased circulating IgM level, Lymphopenia, Neutropenia, Recurrent ... ORPHA:2688
Thrombocythemia 1
Thrombocytosis, Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced platelet ... OMIM:187950
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hemophagocytosis, Abnormal natural killer cell physiology, Decreased circulating antibody level, ... OMIM:613101
Hyper-Igd Syndrome
Skin rash, Serositis, Chronic oral candidiasis, Lymphadenitis, Leukocytosis, Splenomegaly, Increa... OMIM:260920
Axonal Polyneuropathy Associated With Igg/Igm/Iga Monoclonal Gammopathy
Monoclonal immunoglobulin M proteinemia, Cryoglobulinemia ORPHA:209004
Hyperimmunoglobulin G1(A1) Syndrome
Increased circulating IgG level, Increased circulating IgA level OMIM:144120
Immunodeficiency, Common Variable, 7
Reduced isohemagglutinin level, Decreased circulating total IgG, Decreased circulating IgA level,... OMIM:614699
Immunodeficiency 50
Decreased circulating antibody level, Lymphopenia, Neutropenia, Eczema OMIM:300988
Lymphoproliferative Syndrome 1
Autoimmune thrombocytopenia, Autoimmunity, Decreased circulating antibody level, Autoimmune hemol... OMIM:613011
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Skin rash, Pancytopenia, Leukopenia, Anemia, Eczema, Lymphadenopathy, Recurrent otitis media, Pan... OMIM:615688
Combined Immunodeficiency, X-Linked
Decreased proportion of CD8-positive T cells, Decreased proportion of CD4-positive helper T cells... OMIM:312863
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hypochromia, Anemia, Splenomegaly, Decreased mean corpuscular volume, Poikilocytosis OMIM:615234
Candidiasis, Familial, 2
Chronic oral candidiasis, Hypereosinophilia, Increased circulating IgE level, Lymphadenopathy OMIM:212050
Sickle Cell Anemia
Iron deficiency anemia, Hypochromic anemia, Thrombocytosis, Hemolytic anemia, Chronic hemolytic a... ORPHA:232
Immunodeficiency 33
Decreased circulating total IgM, Increased circulating IgA level OMIM:300636
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Thrombocytopenia, Splenomegaly, Anemia, Abnormal platelet function, Abnormal hemoglobin ORPHA:231393
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Systemic lupus erythematosus, Hemolytic anemia, Autoimmune thrombocytopenia, Autoimmune hemolytic... ORPHA:444463
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Decreased circulating antibody level, Growth delay, Recurrent skin infections, Short stature OMIM:617744
Acetophenetidin Sensitivity
Methemoglobinemia, Hemolytic anemia OMIM:200300
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Chronic oral candidiasis, Increased circulating antibody level, Decreased proportion of CD3-posit... ORPHA:169160
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Iron deficiency anemia, Thrombocytosis, Decreased circulating antibody level, Growth delay, Pneum... OMIM:226300
Oslam Syndrome
Abnormality of neutrophils, Increased mean corpuscular volume ORPHA:2760
Polyneuropathy Associated With Igm Monoclonal Gammapathy With Anti-Mag
Monoclonal immunoglobulin M proteinemia ORPHA:639
Combined Cellular And Humoral Immune Defects With Granulomas
T lymphocytopenia, Decreased circulating IgG level, B lymphocytopenia OMIM:233650
Immunodeficiency, Common Variable, 8, With Autoimmunity
Bronchiectasis, Decreased specific antibody response to vaccination, Thyroiditis, Generalized lym... OMIM:614700
Immunodeficiency 70
Decreased circulating antibody level, Decreased proportion of CD4-positive helper T cells, Recurr... OMIM:618969
Pa Polymorphism Of Alpha-2-Globulin
Abnormal immunoglobulin level OMIM:260100
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Decreased circulating total IgM, Neutropenia, Short stature OMIM:610798
Fetal Cytomegalovirus Syndrome
Hepatomegaly, Anemia, Splenomegaly ORPHA:294
Alpha-Heavy Chain Disease
Growth delay, Hepatomegaly, Dysgammaglobulinemia, Ascites, Anemia, Splenomegaly, Lymphadenopathy ORPHA:100025
Proteasome-Associated Autoinflammatory Syndrome 2
Thrombocytopenia, Increased circulating antibody level, Skin rash, Lymphadenopathy OMIM:618048
Tularemia
Abnormal nasopharyngeal adenoid morphology, Skin rash, Cutaneous abscess, Leukocytosis, Increased... ORPHA:3392
Aicardi-Goutieres Syndrome 7
Atopic dermatitis, Increased circulating antibody level, Thrombocytopenia, Hepatomegaly, Splenome... OMIM:615846
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Hypoplasia of the thymus, Lymphopenia, Agammaglobulinemia OMIM:200900
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
T lymphocytopenia, Increased circulating IgE level, Hemolytic anemia, Decreased specific anti-pol... OMIM:606367
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
T lymphocytopenia, Increased circulating IgM level, Bronchiectasis, Pneumonia, Reduced natural ki... OMIM:242860
Immunodeficiency, Common Variable, 14
Defective B cell differentiation, Decreased proportion of class-switched memory B cells, Decrease... OMIM:617765
Retinal Telangiectasia And Hypogammaglobulinemia
Decreased circulating IgG level, Reduced delayed hypersensitivity OMIM:267900
Immunodeficiency 23
Increased circulating IgM level, Increased circulating IgE level, Hemolytic anemia, Bronchiectasi... OMIM:615816
Dehydrated Hereditary Stomatocytosis
Nonspherocytic hemolytic anemia, Increased hemoglobin concentration, Hemolytic anemia, Increased ... ORPHA:3202
Delta-Beta-Thalassemia
Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231237
Bone Marrow Failure Syndrome 4
Decreased circulating antibody level, Rhizomelia, Thrombocytopenia, Anemia, Leukopenia, Short sta... OMIM:618116
Autoimmune Hepatitis
Anti-liver cytosolic antigen type 1 antibody positivity, Thyroiditis, Sclerosing cholangitis, Jau... ORPHA:2137
Polycythemia Vera
Thrombocytosis, Increased hematocrit, Leukocytosis, Increased hemoglobin, Thrombocytopenia, Incre... OMIM:263300
Brucellosis
Pericarditis, Pneumonia, Increased circulating IgG level, Hypersplenism, Leukopenia, Anemia, Myoc... ORPHA:1304
Wiskott-Aldrich Syndrome
Iron deficiency anemia, Recurrent pneumonia, Inflammation of the large intestine, Decreased mean ... OMIM:301000
Igg4-Related Aortitis
Increased circulating IgE level, Increased inflammatory response, Autoimmunity, Increased circula... ORPHA:449400
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Severe B lymphocytopenia, Aplasia of the thymus, Increased circulating IgE level, Autoimmune thro... OMIM:102700
Woronets Trait
Red blood cell keratocytosis OMIM:194320
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Skin rash, Chronic oral candidiasis, Autoimmunity, Decreased proportion of CD3-positive T cells, ... ORPHA:275
Immunodeficiency, Common Variable, 5
Chronic decreased circulating total IgG, Antinuclear antibody positivity OMIM:613495
Lymphoproliferative Syndrome 3
Partial absence of specific antibody response to tetanus vaccine, Decreased circulating antibody ... OMIM:618261
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Autoimmunity, Increased CD4:CD8 ratio, Impaired lymphocyte transformation with phytohemagglutinin... OMIM:617006
Leishmaniasis
Increased circulating antibody level, Abnormal macrophage morphology, Pancytopenia, Thrombocytope... ORPHA:507
Bone Marrow Failure Syndrome 6
Persistence of hemoglobin F, Lymphopenia, Neutropenia, Anemia, Increased mean corpuscular volume OMIM:618849
Immunodeficiency With Hyper-Igm, Type 2
Impaired Ig class switch recombination, Decreased circulating IgG level, Decreased circulating Ig... OMIM:605258
Agammaglobulinemia 3, Autosomal Recessive
Recurrent otitis media, Agammaglobulinemia, Neutropenia OMIM:613501
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Absent tonsils, Decreased proportion of CD8-positive T cells, Abnormality of the tonsils, Decreas... OMIM:611926
Immunodeficiency 36
Bronchiectasis, Autoimmunity, Decreased circulating antibody level, Lymphopenia, Chronic lymphati... OMIM:616005
Primary Myelofibrosis
Poikilocytosis, Thrombocytosis, Leukocytosis, Extramedullary hematopoiesis, Pancytopenia, Thrombo... ORPHA:824
Lymphoproliferative Syndrome, X-Linked, 2
Inflammation of the large intestine, Hemophagocytosis, Folliculitis, Acne, Decreased circulating ... OMIM:300635
Thrombocytopenia 1
Decreased mean platelet volume, Increased circulating IgE level, Intermittent thrombocytopenia, C... OMIM:313900
Immunodeficiency 11
Decreased circulating antibody level, Pneumonia OMIM:615206
Ataxia-Pancytopenia Syndrome
Abnormality of neutrophils, Decreased circulating antibody level, Abnormal macrophage morphology,... ORPHA:2585
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Coombs-positive hemolytic anemia, Increased circulating IgE level, Autoimmune thrombocytopenia, E... OMIM:304790
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Cutaneous anergy, Decreased helper T cell proportion, Pancytopenia, Hypersplenism, Splenomegaly OMIM:183350
Hyperimmunoglobulinemia D With Periodic Fever
Peritonitis, Growth delay, Hepatomegaly, Increased circulating IgA level, Recurrent aphthous stom... ORPHA:343
Kimura Disease
Eosinophilia, Increased circulating IgE level, Follicular hyperplasia, Lymphadenopathy ORPHA:482
Celiac Disease, Susceptibility To, 1
Iron deficiency anemia, Thrombocytosis, Thyroiditis, Stomatitis, Postnatal growth retardation, De... OMIM:212750
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Hypochromic anemia, Thrombocytosis, Increased circulating IgE level, Defective T cell proliferati... OMIM:618213
Agammaglobulinemia 7, Autosomal Recessive
Agammaglobulinemia, Neutropenia OMIM:615214
Rosaï-Dorfman Disease
Anemia, Dysgammaglobulinemia, Lymphadenopathy ORPHA:158014
Agammaglobulinemia 8, Autosomal Dominant
Recurrent otitis media, Agammaglobulinemia, B lymphocytopenia OMIM:616941
Angiostrongyliasis
Increased circulating IgM level, Increased circulating specific IgE antibody, Increased circulati... ORPHA:74
Hemophagocytic Lymphohistiocytosis, Familial, 3
Hemophagocytosis, Granulocytopenia, Anemia, Hepatosplenomegaly, Reduced natural killer cell activity OMIM:608898
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Partial absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine, T l... OMIM:618986
Bone Marrow Failure Syndrome 5
Decreased circulating antibody level, Pure red cell aplasia, Short stature, Anemia OMIM:618165
Purine Nucleoside Phosphorylase Deficiency
Pure red cell aplasia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Lymph node hypop... OMIM:613179
Insulin Autoimmune Syndrome
Systemic lupus erythematosus, Autoimmunity, Increased circulating antibody level, Autoimmune anti... ORPHA:411593
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Oval macrocytosis, Anisocytosis, Poikilocytosis, Anemia of inadequate production OMIM:603529
Immunodeficiency 47
Cirrhosis, Decreased circulating antibody level, Hepatic steatosis, Hepatomegaly, Prolonged neona... OMIM:300972
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Inflammation of the large intestine, Abnormality of the intrahepatic bile duct, Cirrhosis, Increa... ORPHA:562639
Adenosine Triphosphate, Elevated, Of Erythrocytes
Polycythemia, Reduced erythrocyte 2,3-diphosphoglycerate concentration OMIM:102900
Combined Immunodeficiency Due To Dock8 Deficiency
T lymphocytopenia, Atopic dermatitis, Increased circulating IgE level, Recurrent bacterial skin i... ORPHA:217390
Asplenia, Isolated Congenital
Asplenia, Howell-Jolly bodies, Thrombocytosis OMIM:271400
Zika Virus Disease
Skin rash, Increased circulating IgM level, Myelitis, Maculopapular exanthema, Thrombocytopenia, ... ORPHA:448237
Multiple Myeloma
Decreased circulating antibody level, Increased circulating IgA level, Increased circulating IgG ... ORPHA:29073
Whim Syndrome 1
Decreased circulating antibody level, Decreased circulating IgG level, Neutropenia, Bronchiectasis OMIM:193670
Reticular Dysgenesis
Skin rash, Abnormality of neutrophils, Decreased circulating antibody level, Chronic otitis media... ORPHA:33355
Microcephalic Primordial Dwarfism, Toriello Type
Neutropenia, Severe short stature, Intrauterine growth retardation, Decreased circulating total I... ORPHA:2643
Insulin-Resistance Syndrome Type B
Skin rash, Nephritis, Systemic lupus erythematosus, Autoimmunity, Decreased serum complement fact... ORPHA:2298
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Decreased proportion of class-switched memory B cells, Coombs-positive hemolytic anemia, Systemic... OMIM:619375
Lymphoproliferative Syndrome 2
Hemophagocytosis, Recurrent pneumonia, Decreased circulating antibody level, Uveitis, Pancytopeni... OMIM:615122
Adenosine Triphosphatase Deficiency, Anemia Due To
Nonspherocytic hemolytic anemia OMIM:102800
Hemolytic Anemia With Thermal Sensitivity Of Red Cells
Congenital hemolytic anemia OMIM:235370
Hemoglobin--Variants For Which The Chain Carrying The Mutation Is Unknown Or Uncertain
Compensated hemolytic anemia OMIM:142309
Anemia, Nonspherocytic Hemolytic, Associated With Abnormality Of Red Cell Membrane
Nonspherocytic hemolytic anemia OMIM:206300
Congenital Dyserythropoietic Anemia Type Iii
Abnormal erythrocyte morphology, Anisocytosis, Anemia, Increased mean corpuscular volume, Poikilo... ORPHA:98870
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Absent tonsils, Aplasia of the thymus, Lymph node hypoplasia, Panhypogammaglobulinemia, Pneumonia... OMIM:602450
Immunodeficiency 46
Intermittent thrombocytopenia, Chronic oral candidiasis, Decreased circulating antibody level, Ne... OMIM:616740
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4
Decreased circulating antibody level, Agammaglobulinemia OMIM:616911
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231242
Immunodeficiency, Common Variable, 4
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:613494
Adenylate Kinase Deficiency, Hemolytic Anemia Due To
Hemolytic anemia OMIM:612631
6-Phosphogluconolactonase Deficiency
Hemolytic anemia OMIM:172150
Mucopolysaccharidosis-Plus Syndrome
Recurrent pneumonia, Increased circulating IgM level, Enlarged kidney, Macrovesicular hepatic ste... OMIM:617303
Apolipoprotein A-I Deficiency
Anemia, Splenomegaly, Decreased HDL cholesterol concentration, Abnormality of the liver, Lymphade... ORPHA:425
Immunodeficiency With Hyper-Igm, Type 4
Bronchiectasis, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Impaired Ig class switc... OMIM:608184
Immunodeficiency, Common Variable, 12, With Autoimmunity
Bronchiectasis, Autoimmune hemolytic anemia, Decreased circulating antibody level, Recurrent sinu... OMIM:616576
Tempi Syndrome
Ascites, Polycythemia, Increased circulating IgG level, Increased hematocrit ORPHA:284227
Chronic Myeloid Leukemia
Thrombocytosis, Abnormal basophil morphology, Leukocytosis, Abnormal granulocyte morphology, Thro... ORPHA:521
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
T lymphocytopenia, Skin rash, Pustule, Absent natural killer cells, Chronic oral candidiasis, Par... ORPHA:35078
Poems Syndrome
Thrombocytosis, Increased circulating antibody level, Polycythemia, Visceromegaly, Ascites, Lymph... ORPHA:2905
Thrombocythemia 2
Thrombocytosis OMIM:601977
Microcephalic Primordial Dwarfism, Toriello Type
Neutropenia, Severe short stature, Intrauterine growth retardation, Decreased circulating total I... OMIM:251190
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... ORPHA:70593
Agammaglobulinemia 4, Autosomal Recessive
Chronic sinusitis, Recurrent otitis media, Neutropenia, Agammaglobulinemia, Recurrent pneumonia OMIM:613502
Immunodeficiency, Common Variable, 6
Autoimmune thrombocytopenia, Enlarged kidney, Hepatomegaly, Glomerulonephritis, Chronic decreased... OMIM:613496
Immunoglobulin Kappa Light Chain Deficiency
Abnormal immunoglobulin level OMIM:614102
Immunoglobulin A Deficiency 1
Autoimmunity, Decreased circulating IgA level OMIM:137100
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
T lymphocytopenia, Purulent rhinitis, Panhypogammaglobulinemia, Pneumonia, Conjunctivitis, B lymp... OMIM:601457
Prolidase Deficiency
Recurrent pneumonia, Systemic lupus erythematosus, Increased circulating antibody level, Thromboc... OMIM:170100
Selective Igm Deficiency
Cutaneous abscess, Bronchiectasis, Decreased specific antibody response to vaccination, Chronic s... ORPHA:331235
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Hepatomegaly, Anemia, Persistence of hemoglobin F, Splenomegaly ORPHA:46532
Congenital Amegakaryocytic Thrombocytopenia
Thrombocytopenia, Abnormal hemoglobin, Short stature, Anemia ORPHA:3319
Proteasome-Associated Autoinflammatory Syndrome 3
Skin rash, Increased circulating antibody level, Lymphopenia, Panniculitis, Thrombocytopenia, Sin... OMIM:617591
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive
T lymphocytopenia, Pneumonia, Hepatomegaly, Splenomegaly, Eczema, Otitis media, Lymphadenopathy OMIM:608971
Proteasome-Associated Autoinflammatory Syndrome 1
Increased circulating IgG level, Cardiomegaly, Lymphadenopathy, Recurrent otitis media, Panniculi... OMIM:256040
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Hepatomegaly, Splenomegaly ORPHA:2274
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Exocrine pancreatic insufficiency, Autoimmune thrombocytopenia, Interstitial pneumonitis, Autoimm... OMIM:615952
Lymphangiectasia, Intestinal
Intestinal lymphangiectasia, Lymphopenia, Decreased circulating IgG level OMIM:152800
Ectodermal Dysplasia And Immunodeficiency 1
Abnormal circulating IgG level, Increased circulating IgM level, Dysgammaglobulinemia, Increased ... OMIM:300291
Syndromic Diarrhea
Cirrhosis, Thrombocytosis, Lymphopenia, Panhypogammaglobulinemia, Increased mean platelet volume,... ORPHA:84064
Neurodegeneration, Infantile-Onset, Biotin-Responsive
Decreased circulating IgG level OMIM:618973
Primary Biliary Cholangitis
Gastrointestinal inflammation, Cirrhosis, Increased circulating IgM level, Autoimmunity, Hepatoce... ORPHA:186
X-Linked Agammaglobulinemia
Skin rash, Recurrent pneumonia, Autoimmunity, Chronic otitis media, Neutropenia, Thrombocytopenia... ORPHA:47
Immunodeficiency 37
Decreased circulating antibody level, Encephalitis, Decreased proportion of central memory CD4-po... OMIM:616098
Agammaglobulinemia 1, Autosomal Recessive
Bronchiectasis, Decreased circulating antibody level, Recurrent otitis media, Recurrent sinusitis... OMIM:601495
Hyper-Ige Recurrent Infection Syndrome 4, Autosomal Recessive
Increased circulating IgE level, Bronchiectasis, Recurrent otitis media, Keratitis, Eczema, Eosin... OMIM:618523
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant
Increased circulating IgE level, Thyroiditis, Postnatal growth retardation, Delayed puberty, Shor... OMIM:618985
Hemoglobin H Disease
Hemolytic anemia, Hepatomegaly, HbH hemoglobin, Splenomegaly, Reduced alpha/beta synthesis ratio OMIM:613978
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant
Skin rash, Increased circulating IgE level, Eczematoid dermatitis, Chronic mucocutaneous candidia... OMIM:147060
Immunodeficiency By Defective Expression Of Mhc Class Ii
Skin rash, Decreased proportion of CD4-positive helper T cells, Sclerosing cholangitis, Panhypoga... ORPHA:572
Familial Hemophagocytic Lymphohistiocytosis
Hemophagocytosis, Skin rash, Increased serum interferon-gamma level, Decreased circulating antibo... ORPHA:540
Immune Deficiency, Familial Variable
Decreased circulating IgG level, Decreased circulating IgA level OMIM:146830
Agammaglobulinemia 2, Autosomal Recessive
Agammaglobulinemia, Recurrent pneumonia OMIM:613500
Hemoglobin E-Beta-Thalassemia Syndrome
Abnormal hemoglobin, Anemia ORPHA:231249
Panniculitis-Induced Localized Lipodystrophy
Abnormal immunoglobulin level, Antinuclear antibody positivity, Inflammatory abnormality of the skin ORPHA:90159
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hypochromia, Erythroid hyperplasia, Anisocytosis, Anemia, Splenomegaly, Decreased mean corpuscula... OMIM:616860
Q Fever
Pericarditis, Cryoglobulinemia, Anticardiolipin IgG antibody positivity, Antimitochondrial antibo... ORPHA:781
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Recurrent pneumonia, Recurrent tonsillitis, Hemolytic anemia, Lymphadenitis, Lymphopenia, Impaire... OMIM:618935
Transcobalamin Ii Deficiency
Neutropenia, Reticulocytopenia, Pancytopenia, Decreased circulating IgA level, Decreased circulat... OMIM:275350
Autoimmune Hemolytic Anemia, Cold Type
Autoimmunity, Abnormal leukocyte morphology, Hemolytic anemia, Splenomegaly ORPHA:228312
Ige Responsiveness, Atopic
Eczema, Allergic rhinitis, Increased circulating IgE level OMIM:147050
Congenital Disorder Of Glycosylation, Type Ia
Thrombocytosis, Hepatic steatosis, Hepatic fibrosis, Hepatomegaly, Decreased circulating IgA leve... OMIM:212065
Immunodeficiency 57 With Autoinflammation
Partial absence of specific antibody response to tetanus vaccine, T lymphocytopenia, Inflammation... OMIM:618108
Autoinflammation With Infantile Enterocolitis
Skin rash, Pancytopenia, Thrombocytopenia, Reduced natural killer cell count, Anemia, Splenomegal... OMIM:616050
Immunodeficiency, Common Variable, 10
Anti-thyroid peroxidase antibody positivity, Anti-thyroglobulin antibody positivity, Recurrent ot... OMIM:615577
Thrombocythemia 3
Thrombocytosis OMIM:614521
Macrocephaly/Autism Syndrome
Hepatomegaly, Decreased circulating antibody level, Lymphopenia, Splenomegaly OMIM:605309
Cirrhosis, Familial
Cirrhosis, Increased circulating antibody level, Hepatitis, Chronic active hepatitis OMIM:118900
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Abnormal T cell morphology, Macronodular cirrhosis, Decreased circulating IgA level, Short stature OMIM:215250
Griscelli Syndrome
Abnormality of neutrophils, Decreased circulating antibody level, Thrombocytopenia, Jaundice, Hep... ORPHA:381
Majeed Syndrome
Microcytic anemia, Erythroid hyperplasia, Anemia of inadequate production, Decreased mean corpusc... OMIM:609628
Pulmonary Nodular Lymphoid Hyperplasia, Familial
Increased circulating antibody level, Rheumatoid arthritis, Systemic lupus erythematosus, Antinuc... OMIM:178610
Autoinflammation With Episodic Fever And Lymphadenopathy
Recurrent tonsillitis, Microcytic anemia, Hepatomegaly, Rheumatoid factor positive, Splenomegaly,... OMIM:618852
Gamma-A-Globulin, Defect In Assembly Of
Decreased circulating IgA level OMIM:137050
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Decreased circulating antibody level, Growth delay, Pneumonia OMIM:614069
Deafness, Neural, With Atypical Atopic Dermatitis
Increased circulating IgE level, Late onset atopic dermatitis OMIM:221700
Roifman Syndrome
Decreased circulating antibody level, Recurrent otitis media, Postnatal growth retardation, Eosin... ORPHA:353298
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Monocytosis, Systemic lupus erythematosus, Acute myeloid leukemia, Leukopenia, Refractory anemia,... OMIM:616871
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hemophagocytosis, Skin rash, Neutropenia, Thrombocytopenia, Conjunctivitis, Jaundice, Hepatomegal... OMIM:603552
Autoerythrocyte Sensitization Syndrome
Thrombocytosis, Impaired platelet adhesion, Autoimmune thrombocytopenia, Superficial dermal periv... ORPHA:324636
Diamond-Blackfan Anemia 6
Increased mean corpuscular volume, Persistence of hemoglobin F, Macrocytic anemia OMIM:612561
Isolated Agammaglobulinemia
Skin rash, Autoimmunity, Abnormality of neutrophils, Abnormal lymphocyte morphology, Pneumonia, T... ORPHA:229717
Lichtenstein Syndrome
Decreased circulating IgA level, Neutropenia OMIM:246550
Igg4-Related Submandibular Gland Disease
Prostatitis, Increased circulating IgE level, Autoimmunity, Increased circulating antibody level,... ORPHA:449432
Immunodeficiency, Common Variable, 13
Pancytopenia, Decreased circulating antibody level, Acute lymphoblastic leukemia, B lymphocytopenia OMIM:616873
Hypertriglyceridemia, Transient Infantile
Hepatic steatosis, Hepatic fibrosis, Hypertriglyceridemia, Hepatomegaly, Short stature, Splenomegaly OMIM:614480
Gaucher Disease Type 1
Cirrhosis, Increased circulating antibody level, Growth delay, Biliary tract obstruction, Pancyto... ORPHA:77259
Congenital Disorder Of Glycosylation, Type Iir
Micronodular cirrhosis, Decreased circulating antibody level, Hepatic steatosis, Hepatomegaly, Ja... OMIM:301045
Common Variable Immunodeficiency
Hemolytic anemia, Autoimmune thrombocytopenia, Bronchiectasis, Decreased circulating antibody lev... ORPHA:1572
Ataxia-Telangiectasia
Defective B cell differentiation, T lymphocytopenia, Bronchiectasis, Decreased proportion of CD4-... OMIM:208900
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Leukocytosis, Ulcerative colitis, Anemia OMIM:619398
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome
Pustule, Acne, Increased inflammatory response, Increased circulating antibody level, Myositis, C... ORPHA:69126
Pyoderma Gangrenosum
Myeloid leukemia, Inflammation of the large intestine, Pustule, Increased circulating antibody le... ORPHA:48104
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Hyperlipoproteinemia, Recurrent pancreatitis, Splenomegaly OMIM:118830
Sézary Syndrome
Erythroderma, Abnormal lymphocyte morphology, Hepatomegaly, Splenomegaly, Abnormal immunoglobulin... ORPHA:3162
Spastic Ataxia-Corneal Dystrophy Syndrome
Decreased circulating antibody level ORPHA:2572
Mental Retardation, X-Linked, Syndromic, Chudley-Schwartz Type
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level OMIM:300861
Good Syndrome
Bronchiectasis, Decreased circulating antibody level, Aplasia/Hypoplasia of the thymus, Thrombocy... ORPHA:169105
Osteopetrosis, Autosomal Recessive 7
Recurrent pneumonia, Growth delay, Hepatomegaly, Decreased circulating IgA level, Anemia, Splenom... OMIM:612301
Reticuloendotheliosis, X-Linked
Jaundice, Hepatosplenomegaly, Anemia, Lymphadenopathy OMIM:312500
Immunodeficiency 76
T lymphocytopenia, Recurrent pneumonia, Lymphopenia, Growth delay, Colitis, B lymphocytopenia, Sp... OMIM:619164
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Interstitial pneumonitis, Anti-liver cytosolic antigen type 1 antibody positivity, Eczematoid der... ORPHA:37042
Tick-Borne Encephalitis
Increased circulating IgM level, Myelitis, Leukocytosis, Abnormality of serum cytokine level, Thr... ORPHA:297
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Thrombocytopenia, Hepatosplenomegaly, Anemia OMIM:610539
Trimethylaminuria
Recurrent pneumonia, Neutropenia, Anemia, Splenomegaly OMIM:602079
Felty Syndrome
Recurrent pneumonia, Pericarditis, Autoimmunity, Abnormal lymphocyte morphology, Chronic otitis m... ORPHA:47612
Glycoprotein Storage Disease
Gout, Splenomegaly OMIM:232900
Mantle Cell Lymphoma
Lymphadenopathy, Splenomegaly ORPHA:52416
Dyskeratosis Congenita, Autosomal Recessive 5
Decreased circulating antibody level, Postnatal growth retardation, Colitis, Leukopenia, Intraute... OMIM:615190
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
T lymphocytopenia, Abnormal serum interleukin level, Decreased proportion of memory B cells, Panh... ORPHA:79124
Proteasome-Associated Autoinflammatory Syndrome 5
Hepatomegaly, Hypertriglyceridemia, Splenomegaly OMIM:619175
Neutrophil Immunodeficiency Syndrome
Leukocytosis, Abnormality of neutrophil physiology ORPHA:183707
Combined Immunodeficiency Due To Zap70 Deficiency
Lymphocytosis, Skin rash, Decreased proportion of CD8-positive T cells, Autoimmune thrombocytopen... ORPHA:911
Leukocyte Adhesion Deficiency
Peritonitis, Bronchiectasis, Pneumonia, Lymphocytic interstitial pneumonia, Sinusitis, Abnormalit... ORPHA:2968
Anemia, Congenital Dyserythropoietic, Type Ib
Reticulocytosis, Growth delay, Erythroid hyperplasia, Hepatomegaly, Anisocytosis, Jaundice, Splen... OMIM:615631
Coccidioidomycosis
Peritonitis, Skin rash, Folliculitis, Increased circulating IgM level, Pericarditis, Panniculitis... ORPHA:228123
Wiskott-Aldrich Syndrome 2
Defective T cell proliferation, Decreased proportion of CD8-positive T cells, Thrombocytopenia, E... OMIM:614493
Anemia, Congenital Dyserythropoietic, Type Iv
Reticulocytosis, Erythroid hyperplasia, Hepatomegaly, Splenomegaly, Anemia, Anemia of inadequate ... OMIM:613673
Niemann-Pick Disease, Type B
Bone-marrow foam cells, Sea-blue histiocytosis, Hypertriglyceridemia, Hepatomegaly, Short stature... OMIM:607616
Palmoplantar Keratoderma, Epidermolytic
Increased circulating IgE level OMIM:144200
Igg4-Related Kidney Disease
Increased circulating IgG1 level, Abnormality of mesentery morphology, Pericarditis, Interstitial... ORPHA:449395
Secondary Intestinal Lymphangiectasia
Autoimmunity, Decreased circulating antibody level, Lymphopenia, Chylous ascites, Abnormality of ... ORPHA:90363
Hemolytic Poikilocytic Anemia Due To Reduced Ankyrin Binding Sites
Nonspherocytic hemolytic anemia, Heinz body anemia, Elliptocytosis, Poikilocytosis OMIM:141700
Alpha-Thalassemia
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio OMIM:604131
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Increased circulating IgM level, Enlarged kidney, Decreased circulating IgG level, Thrombocytopen... ORPHA:505248
Beta-Thalassemia
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Acute Lung Injury
Abnormality of serum cytokine level, Abnormality of tumor necrosis factor secretion, Increased ci... ORPHA:178320
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Autoimmunity, Hashimoto thyroiditis, Pancytopenia, Hepatomegaly, Hepatitis, Decreased circulating... OMIM:613385
Bloom Syndrome
Bronchiectasis, Postnatal growth retardation, Intrauterine growth retardation, Malar rash, Decrea... OMIM:210900
Indolent Systemic Mastocytosis
Increased proportion of CD25+ mast cells, Skin rash, Maculopapular exanthema, Hepatomegaly, Splen... ORPHA:98848
Immunodeficiency 35
Increased circulating IgE level OMIM:611521
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Absent peripheral lymph nodes in presence of infection, T lymphocytopenia, Cutaneous anergy, Abse... OMIM:600802
Vulvovaginal Gingival Syndrome
Abnormality of tumor necrosis factor secretion ORPHA:83453
O'Sullivan-Mcleod Syndrome
Increased circulating antibody level, Eosinophilia ORPHA:99965
Alpha-Thalassemia
Hemolytic anemia, Microcytic anemia, Cholelithiasis, Jaundice, Splenomegaly, Anemia, Hypersplenis... ORPHA:846
Mevalonic Aciduria
Skin rash, Fluctuating hepatomegaly, Morbilliform rash, Leukocytosis, Thrombocytopenia, Anemia, S... OMIM:610377
Erythroleukemia, Familial, Susceptibility To
Erythroid hyperplasia, Thrombocytopenia, Acute myeloid leukemia, Hepatomegaly, Anemia, Splenomega... OMIM:133180
Idiopathic Hypereosinophilic Syndrome
Inflammatory abnormality of the skin, Thrombocytosis, Leukocytosis, Erythroderma, Generalized lym... ORPHA:3260
Anemia, Congenital Dyserythropoietic, Type Ia
Macrocytic dyserythropoietic anemia, Reticulocytosis, Erythroid hyperplasia, Prolonged neonatal j... OMIM:224120
Thymoma
Skin rash, Hemolytic anemia, Pericarditis, Decreased circulating antibody level, Abnormal lymphoc... ORPHA:99867
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis
Hemolytic anemia, Elliptocytosis, Anemia of inadequate production OMIM:166910
Inflammatory Pseudotumor Of The Liver
Abnormal liver sonography, Cirrhosis, Biliary tract abnormality, Neoplasm of the liver, Autoimmun... ORPHA:90003
Immunodeficiency 59 And Hypoglycemia
Hypochromic anemia, Arteritis, Leukocytosis, Decreased circulating antibody level, Stomatitis, Th... OMIM:233600
Acute Erythroid Leukemia
Erythroid hypoplasia, Pancytopenia, Leukopenia, Anemia, Bone marrow hypocellularity ORPHA:318
Immunodeficiency 81
Decreased proportion of class-switched memory B cells, Skin rash, Autoimmune hemolytic anemia, Re... OMIM:619374
Bone Marrow Failure Syndrome 2
Thrombocytopenia, Anemia, Bone marrow hypocellularity, Leukopenia OMIM:615715
Immunoglobulin M, Level Of
Decreased circulating total IgM OMIM:308250
Anemia, Sideroblastic, 1
Sideroblastic anemia, Hypochromic microcytic anemia, Macrocytic anemia, Anemia of inadequate prod... OMIM:300751
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Nonspherocytic hemolytic anemia, Jaundice, Splenomegaly OMIM:206400
Cogan Syndrome
Thrombocytosis, Scleritis, Leukocytosis, Uveitis, Conjunctivitis, Keratitis, Episcleritis, Anemia... ORPHA:1467
Glycogen Storage Disease Vi
Hypercholesterolemia, Hyperlipidemia, Postnatal growth retardation, Hepatomegaly, Hypertriglyceri... OMIM:232700
Mast Cell Sarcoma
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Mastocytosis, Lymphadenopathy ORPHA:66661
Fanconi Anemia, Complementation Group T
Thrombocytopenia, Pancytopenia, Anemia, Short stature, Bone marrow hypocellularity OMIM:616435
Spherocytosis, Type 3
Spherocytosis, Hemolytic anemia OMIM:270970
Hyperlipoproteinemia, Type Id
Hyperlipoproteinemia, Hepatomegaly, Splenomegaly OMIM:615947
Primary Sclerosing Cholangitis
Polyclonal elevation of IgM, Thyroiditis, Jaundice, Cirrhosis, Uveitis, Abnormal biliary tract mo... ORPHA:171
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Neutropenia, Thrombocytopenia, HbH hemoglobin, Splenomegaly, Acute leukemia ORPHA:231401
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Hepatomegaly, Intrauterine growth retardation, Short stature, Splenomegaly OMIM:618541
Drug-Induced Lupus Erythematosus
Serositis, Pericarditis, Decreased serum complement C4, Thrombocytopenia, Lupus anticoagulant, Ma... ORPHA:231111
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin
Decreased circulating IgA level OMIM:235500
Netherton Syndrome
Allergic rhinitis, Increased circulating IgE level, Erythroderma, Hypereosinophilia, Decreased ci... OMIM:256500
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Specific Granule Deficiency 2
Absent neutrophil specific granules, Recurrent otitis media, Neutropenia, Thrombocytopenia, Anemi... OMIM:617475
Methylcobalamin Deficiency Type Cble
Pancytopenia, Macrocytic anemia, Neutropenia, Increased mean corpuscular volume ORPHA:2169
Hyperbilirubinemia, Shunt, Primary
Reticulocytosis, Erythroid hyperplasia, Hepatomegaly, Jaundice, Splenomegaly, Anemia of inadequat... OMIM:237800
Congenital Atransferrinemia
Abnormality of the pancreas, Anemia, Arthritis ORPHA:1195
Leukoencephalopathy, Arthritis, Colitis, And Hypogammaglobulinema
Inflammation of the large intestine, Chronic gastritis, Neutropenia, Colitis, Eczema, Decreased c... OMIM:608809
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Increased circulating IgE level, Short stature ORPHA:1858
Immunodeficiency 55
Neutropenia, Postnatal growth retardation, Short stature, Intrauterine growth retardation, Eczema... OMIM:617827
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, Recurrent pneumonia, Intermittent thrombocytopenia, Bronchiectasis, Chron... OMIM:150550
Refractory Anemia
Erythroid hypoplasia, Neutropenia, Normocytic anemia, Thrombocytopenia, Normochromic anemia, Anem... ORPHA:98826
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency
Decreased circulating IgG level, Neutropenia OMIM:600351
Waldenström Macroglobulinemia
Cryoglobulinemia, Abnormality of neutrophils, Normocytic anemia, Hepatomegaly, Splenomegaly, Leuk... ORPHA:33226
Smith-Kingsmore Syndrome
Thrombocytopenia, Rhizomelia, Decreased circulating IgA level OMIM:616638
Erythema Elevatum Diutinum
Increased circulating antibody level, Skin rash ORPHA:90000
Riddle Syndrome
Decreased circulating IgG level, Short stature OMIM:611943
C3 Glomerulopathy
Autoimmunity, Decreased serum complement C4, Membranoproliferative glomerulonephritis, Paraprotei... ORPHA:329918
Autoimmune Polyendocrinopathy Type 4
Non-caseating epithelioid cell granulomatosis, Iridocyclitis, Autoimmune thrombocytopenia, Autoim... ORPHA:227990
Subcorneal Pustular Dermatosis
Pustule, Systemic lupus erythematosus, Autoimmunity, Increased circulating antibody level, Rheuma... ORPHA:48377
Beta-Thalassemia
Microcytic anemia, Cholelithiasis, Thrombocytopenia, Hepatomegaly, Hepatitis, Anemia, Splenomegal... ORPHA:848
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Megaloblastic anemia, Increased mean corpuscular volume OMIM:277410
Leukocyte Adhesion Deficiency, Type Iii
Leukocytosis, Extramedullary hematopoiesis, Hepatomegaly, Recurrent skin infections, Anemia, Sple... OMIM:612840
Cyanosis, Transient Neonatal
Reticulocytosis, Hepatomegaly, Jaundice, Anemia, Methemoglobinemia OMIM:613977
Igg4-Related Pachymeningitis
Lymphadenitis, Increased circulating IgG4 level, Complement deficiency, Pancreatitis, Sinusitis, ... ORPHA:449427
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Decreased circulating antibody level, Lymphopenia ORPHA:1116
Pyropoikilocytosis, Hereditary
Microspherocytosis, Hemolytic anemia, Elliptocytosis, Pyropoikilocytosis OMIM:266140
Aregenerative Anemia
Erythroid hypoplasia, Abnormality of interleukin secretion, Decreased proportion of CD4-positive ... ORPHA:101096
Unclassified Myelodysplastic Syndrome
Autoimmunity, Acute myeloid leukemia, Bone marrow hypocellularity, Leukocytosis ORPHA:98827
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Hypochromic microcytic anemia, Decreased circulating antibody level, Growth delay, Sideroblastic ... OMIM:616084
Immunodeficiency 67
Transient neutropenia, Increased circulating IgE level, Liver abscess OMIM:607676
Agammaglobulinemia 6, Autosomal Recessive
Chronic sinusitis, Recurrent otitis media, Conjunctivitis, Agammaglobulinemia, Recurrent pneumonia OMIM:612692
Deafness-Lymphedema-Leukemia Syndrome
Myeloproliferative disorder, Leukocytosis, Chronic otitis media, Thrombocytopenia, Hepatomegaly, ... ORPHA:3226
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Chronic hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Congenital hemolytic ... ORPHA:766
Okur-Chung Neurodevelopmental Syndrome
Decreased circulating antibody level, Decreased circulating IgG level, Decreased circulating IgA ... OMIM:617062
3-Hydroxy-3-Methylglutaric Aciduria
Thrombocytosis, Leukocytosis, Acute pancreatitis, Hepatomegaly, Jaundice, Anemia, Leukopenia, Lip... ORPHA:20
Retinitis Pigmentosa And Erythrocytic Microcytosis
Elliptocytosis, Anisocytosis, Anemia, Decreased mean corpuscular volume, Poikilocytosis OMIM:616959
Gamma-Heavy Chain Disease
Skin rash, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Autoimmunity, Rheumatoid art... ORPHA:100026
Hemochromatosis, Type 2B
Increased circulating ferritin concentration, Cirrhosis, Abnormality of iron homeostasis, Hepatom... OMIM:613313
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Reticulocytosis, Decreased mean corpuscular volume, Hepatosplenomegaly, Hemolytic anemia OMIM:611590
Eosinophilia, Familial
Leukocytosis, Thrombocytopenia, Eosinophilia, Anemia OMIM:131400
Agammaglobulinemia, X-Linked
Prostatitis, Epididymitis, Lymph node hypoplasia, Pyoderma, Pneumonia, Septic arthritis, Enterovi... OMIM:300755
Ovalocytosis, Southeast Asian
Hemolytic anemia, Elliptocytosis OMIM:166900
Ataxia-Telangiectasia
Decreased circulating antibody level, Lymphopenia, Aplasia/Hypoplasia of the thymus, Delayed pube... ORPHA:100
Bloom Syndrome
Skin rash, Recurrent tonsillitis, Abnormal proportion of CD8-positive T cells, Decreased circulat... ORPHA:125
Adult Acute Respiratory Distress Syndrome
Increased circulating interleukin 6, Abnormal serum interleukin level, Pancreatitis, Abnormality ... ORPHA:70578
Omenn Syndrome
Severe B lymphocytopenia, Erythroderma, Pneumonia, Hypoplasia of the thymus, Thrombocytopenia, He... OMIM:603554
Autoimmune Polyendocrinopathy Type 3
Non-caseating epithelioid cell granulomatosis, Iridocyclitis, Autoimmune thrombocytopenia, Autoim... ORPHA:227982
Hereditary Folate Malabsorption
Megaloblastic anemia, Decreased circulating antibody level, Cheilitis, Pancytopenia, Thrombocytop... ORPHA:90045
Combined Immunodeficiency Due To Partial Rag1 Deficiency
T lymphocytopenia, Interstitial pneumonitis, Autoimmune hemolytic anemia, Autoimmunity, Neutropen... ORPHA:231154
Sea-Blue Histiocyte Disease
Thrombocytopenia, Cirrhosis, Sea-blue histiocytosis, Splenomegaly OMIM:269600
Iron-Refractory Iron Deficiency Anemia
Hypochromic microcytic anemia, Anisocytosis, Poikilocytosis OMIM:206200
Omenn Syndrome
Autoimmunity, Leukocytosis, Abnormal lymphocyte morphology, Thyroiditis, Erythroderma, Pneumonia,... ORPHA:39041
Cinca Syndrome
Skin rash, Leukocytosis, Growth delay, Uveitis, Eosinophilia, Anemia, Hepatosplenomegaly, Lymphad... OMIM:607115
Pneumocystosis
Chronic oral candidiasis, Interstitial pneumonitis, Increased circulating antibody level, Acute i... ORPHA:723
Dystrophic Epidermolysis Bullosa Pruriginosa
Increased circulating IgE level ORPHA:89843
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Decreased circulating total IgM, Ulcerative colitis, Decreased circulating IgA level, Interstitia... OMIM:614878
Combined Immunodeficiency With Faciooculoskeletal Anomalies
Chronic oral candidiasis, Decreased specific antibody response to vaccination, Decreased circulat... ORPHA:221139
Red Cell Phospholipid Defect With Hemolysis
Reticulocytosis, Intermittent jaundice, Hyperbilirubinemia, Splenomegaly OMIM:179700
Rasmussen Subacute Encephalitis
Anti-dsDNA antibody positivity, Decreased circulating total IgA, Antinuclear antibody positivity,... ORPHA:1929
Immunoneurologic Disorder, X-Linked
Decreased circulating IgG2 level OMIM:300076
Immunodeficiency 16
Coombs-positive hemolytic anemia, Pancytopenia, Splenomegaly OMIM:615593
Familial Cold Autoinflammatory Syndrome 2
Skin rash, Leukocytosis, Lymphadenopathy, Splenomegaly, Recurrent aphthous stomatitis, Erythema n... OMIM:611762
Ghosal Hematodiaphyseal Dysplasia
Anemia, Splenomegaly ORPHA:1802
Blackfan-Diamond Anemia
Elevated red cell adenosine deaminase level, Erythroid hypoplasia, Pure red cell aplasia, Thrombo... ORPHA:124
Icf Syndrome
Abnormality of neutrophils, Decreased circulating antibody level, Lymphopenia, Short stature, Anemia ORPHA:2268
Myeloma, Multiple
Paraproteinemia OMIM:254500
Diffuse Alveolar Hemorrhage
Antineutrophil antibody positivity, Autoimmunity, Leukocytosis, Decreased serum complement C4, Th... ORPHA:90060
Progressive Familial Intrahepatic Cholestasis
Hypocalcemia, Cholestasis, Hepatomegaly, Jaundice, Short stature, Splenomegaly ORPHA:172
Congenital Disorder Of Glycosylation, Type Iio
Hypercholesterolemia, Cirrhosis, Hepatomegaly, Prolonged neonatal jaundice, Cholestatic liver dis... OMIM:616828
Erythrocytosis, Familial, 3
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin OMIM:609820
Pulmonary Fibrosis, Idiopathic
Increased circulating antibody level, Cirrhosis OMIM:178500
Peeling Skin Syndrome 1
Increased circulating IgE level, Short stature OMIM:270300
Hb Bart'S Hydrops Fetalis
Pericarditis, Hepatomegaly, Anemia, Splenomegaly, Abnormal hemoglobin ORPHA:163596
Erythrocytosis, Familial, 7
Polycythemia, Increased hematocrit OMIM:617981
Autosomal Agammaglobulinemia
Skin rash, Bronchiectasis, Chronic otitis media, Neutropenia, Conjunctivitis, Hepatitis, Agammagl... ORPHA:33110
X-Linked Immunoneurologic Disorder
Decreased circulating IgG2 level ORPHA:2571
Epilepsy-Telangiectasia Syndrome
Decreased circulating antibody level, Decreased circulating IgA level, Short stature ORPHA:1951
Cystic Echinococcosis
Peritoneal abscess, Increased circulating antibody level, Hepatic cysts, Abnormality of the perit... ORPHA:400
Bleeding Disorder, Platelet-Type, 16
Impaired platelet aggregation, Macrothrombocytopenia, Thrombocytopenia, Giant platelets, Anemia, ... OMIM:187800
Aggressive Systemic Mastocytosis
Increased proportion of CD25+ mast cells, Leukocytosis, Neutropenia, Maculopapular exanthema, Pan... ORPHA:98850
Igg4-Related Ophthalmic Disease
Prostatitis, Increased circulating IgE level, Thyroiditis, Orchitis, Increased circulating IgG4 l... ORPHA:449563
Thymic Tumor
Pericarditis, Autoimmunity, Neoplasm of the thymus, Dysgammaglobulinemia, Mediastinal lymphadenop... ORPHA:100100
Acute Myelomonocytic Leukemia
Leukocytosis, Thrombocytopenia, Eosinophilia, Anemia ORPHA:517
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Reticulocytopenia, Anisopoikilocytosis, Dysplastic erythropoesis, Anemia, Decreased mean corpuscu... ORPHA:300298
Japanese Encephalitis
Neutrophilia, Increased circulating antibody level, Increased circulating IgM level, Encephalitis ORPHA:79139
Congenital Disorder Of Glycosylation, Type Iil
Inflammation of the large intestine, Cirrhosis, Decreased specific anti-polysaccharide antibody l... OMIM:614576
Lipodystrophy, Congenital Generalized, Type 3
Hypocalcemia, Hypercholesterolemia, Hepatic steatosis, Hepatomegaly, Hypertriglyceridemia, Short ... OMIM:612526
Sitosterolemia 1
Impaired platelet aggregation, Episodic hemolytic anemia, Chronic hemolytic anemia, Stomatocytosi... OMIM:210250
Galactosemia Iii
Hepatomegaly, Jaundice, Hypergalactosemia, Splenomegaly OMIM:230350
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Elliptocytosis, Increased hemoglobin, Abnormal erythrocyte morphology, Neutropenia, Thrombocytope... OMIM:300835
Schimke Immunoosseous Dysplasia
Lymphopenia, Neutropenia, Thrombocytopenia, Abnormal T cell morphology, Disproportionate short-tr... OMIM:242900
Amed Syndrome, Digenic
Thrombocytopenia, Acute myeloid leukemia, Anemia, Leukopenia, Short stature, Bone marrow hypocell... OMIM:619151
Immunodeficiency 15B
Decreased circulating antibody level, Agammaglobulinemia OMIM:615592
Neonatal Lupus Erythematosus
Skin rash, Hemolytic anemia, Neutropenia, Maculopapular exanthema, Pancytopenia, Thrombocytopenia... ORPHA:398124
Diamond-Blackfan Anemia 7
Increased mean corpuscular volume, Neutropenia, Macrocytic anemia OMIM:612562
Beta-Ketothiolase Deficiency
Leukocytosis, Thrombocytosis, Hepatomegaly ORPHA:134
Aspergillosis
Increased circulating IgE level, Bronchiectasis, Pneumonia, Neutropenia, Hepatitis, Keratitis, En... ORPHA:1163
Pediatric Systemic Lupus Erythematosus
Skin rash, Microangiopathic hemolytic anemia, Systemic lupus erythematosus, Nephritis, Antineutro... ORPHA:93552
Lambert Syndrome
Decreased circulating antibody level, Intrauterine growth retardation, Cholestasis, Jaundice, Int... ORPHA:1296
Erythrocytosis, Familial, 1
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin, Splenomegaly OMIM:133100
Fanconi Anemia, Complementation Group G
Growth delay, Neutropenia, Thrombocytopenia, Anemia, Leukemia OMIM:614082
Erythrocytosis, Familial, 5
Polycythemia, Increased hematocrit, Increased hemoglobin OMIM:617907
Erythrocytosis, Familial, 6
Polycythemia, Increased hematocrit, Increased hemoglobin OMIM:617980
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Hepatomegaly, Impaired T cell function, Short stature, Splenomegaly OMIM:201100
Classic Mycosis Fungoides
Skin rash, Abnormal lymphocyte morphology, Hepatomegaly, Splenomegaly, Eczema, Lymphadenopathy ORPHA:2584
Adult-Onset Still Disease
Skin rash, Pericarditis, Leukocytosis, Myocarditis, Generalized lymphadenopathy, Hepatomegaly, He... ORPHA:829
Neonatal Severe Primary Hyperparathyroidism
Hepatomegaly, Short stature, Splenomegaly ORPHA:417
Familial Thrombocytosis
Acute myeloid leukemia, Chronic myelogenous leukemia, Thrombocytosis, Splenomegaly ORPHA:71493
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Nonspherocytic hemolytic anemia, Impaired neutrophil bactericidal activity, Cholelithiasis, Jaund... OMIM:613470
Cinca Syndrome
Abnormality of neutrophils, Leukocytosis, Abnormal granulocyte morphology, Retrobulbar optic neur... ORPHA:1451
Pancytopenia And Occlusive Vascular Disease
Thrombocytopenia, Leukopenia, Pancytopenia, Anemia OMIM:167850
Infection-Related Hemolytic Uremic Syndrome
Hypocalcemia, Hemolytic anemia, Leukocytosis, Hyponatremia, Increased circulating interleukin 6, ... ORPHA:544482
Autosomal Dominant Hyper-Ige Syndrome
Skin rash, Increased circulating IgE level, Chronic otitis media, Eczema, Osteomyelitis, Eosinoph... ORPHA:2314
Galactose Epimerase Deficiency
Hepatomegaly, Jaundice, Growth delay, Splenomegaly ORPHA:79238
Cryohydrocytosis
Reticulocytosis, Hemolytic anemia, Stomatocytosis, Splenomegaly OMIM:185020
Bare Lymphocyte Syndrome, Type Ii
Cutaneous anergy, Viral hepatitis, Panhypogammaglobulinemia, Neutropenia, Biliary tract abnormali... OMIM:209920
Osteopetrosis, Autosomal Recessive 4
Reticulocytosis, Growth delay, Thrombocytopenia, Hepatomegaly, Anemia, Splenomegaly, Hepatospleno... OMIM:611490
Shwachman-Diamond Syndrome
Chronic neutropenia, Neutropenia, Impaired neutrophil chemotaxis, Normocytic anemia, Pancytopenia... ORPHA:811
Sweet Syndrome
Inflammation of the large intestine, Pustule, Abnormal serum interleukin level, Leukocytosis, Chr... ORPHA:3243
Splenoportal Vascular Anomalies
Cirrhosis, Hepatic fibrosis, Anomalous splenoportal venous system, Ascites, Splenomegaly, Hyperam... OMIM:271500
Congenital Rubella Syndrome
Skin rash, Intrauterine growth retardation, Thrombocytopenia, Jaundice, Hepatomegaly, Anemia, Spl... ORPHA:290
Roifman Syndrome
Recurrent pneumonia, Recurrent otitis media, Postnatal growth retardation, Lymphadenopathy, Hepat... OMIM:616651
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Hemophagocytosis, Autoimmunity, Panniculitis, Pancytopenia, Anemia, Splenomegaly OMIM:618398
Inflammatory Skin And Bowel Disease, Neonatal, 1
Pustule, Erythroderma, Increased circulating IgE level, Blepharitis OMIM:614328
Immune Deficiency Disease
Decreased circulating total IgM, Cholangitis, Fulminant hepatitis OMIM:242850
Gaucher Disease Type 3
Increased circulating antibody level, Growth delay, Pancytopenia, Thrombocytopenia, Hepatomegaly,... ORPHA:77261
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Intrauterine growth retardation, Decreased circulating antibody level, Agammaglobulinemia OMIM:616910
Alveolar Echinococcosis
Abnormality of mesentery morphology, Cutaneous abscess, Increased circulating antibody level, Hep... ORPHA:284
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hemophagocytosis, Skin rash, Pancytopenia, Thrombocytopenia, Jaundice, Hepatomegaly, Encephalitis... OMIM:603553
Xq28 (MECP2) duplication
Decreased circulating IgA level DECIPHER:45
Red Cell Permeability Defect
Elliptocytosis OMIM:179650
Hermansky-Pudlak Syndrome 2
Recurrent pneumonia, Chronic oral candidiasis, Recurrent otitis media, Impaired ADP-induced plate... OMIM:608233
Refractory Anemia With Excess Blasts
Leukocytosis, Thrombocytopenia, Acute myeloid leukemia, Anemia of inadequate production, Abnormal... ORPHA:86839
Babesiosis
Hemolytic anemia, Thrombocytopenia, Jaundice, Hepatomegaly, Leukopenia, Splenomegaly ORPHA:108
Aicardi-Goutieres Syndrome 4
Pancytopenia, Thrombocytopenia, Hepatomegaly, Splenomegaly, Intrauterine growth retardation, Hepa... OMIM:610333
Congenital Toxoplasmosis
Thrombocytopenia, Jaundice, Hepatomegaly, Cardiomegaly, Anemia, Ascites, Intrauterine growth reta... ORPHA:858
Hypereosinophilic Syndrome, Idiopathic
Hepatomegaly, Myeloproliferative disorder, Eosinophilia, Splenomegaly OMIM:607685
Gray Platelet Syndrome
Thrombocytopenia, Abnormal thrombocyte morphology, Splenomegaly ORPHA:721
Lead Poisoning
Skin rash, Increased circulating IgE level, Abnormality of humoral immunity, Abnormal T cell morp... ORPHA:330015
Trichohepatoenteric Syndrome 1
Cirrhosis, Thrombocytosis, Increased mean platelet volume, Cholestasis, Hepatic fibrosis, Jaundic... OMIM:222470
Spondylometaphyseal Dysplasia, Axial
Recurrent pneumonia, Short stature, Rhizomelia, Splenomegaly OMIM:602271
Fetal Parvovirus Syndrome
Thrombocytopenia, Ascites, Anemia, Intrauterine growth retardation ORPHA:295
16Q24.3 Microdeletion Syndrome
Thrombocytopenia, Increased mean corpuscular volume ORPHA:261250
Caffey Disease
Increased circulating an