Gene Summary

Name:
zinc finger CCCH type containing 12C
Synonyms:
C230027N18Rik

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
decreased lymphocyte cell number Zc3h12cem1(IMPC)Tcp HOM Early adult 6.02×10-07
decreased bone mineral density Zc3h12cem1(IMPC)Tcp HOM Early adult 1.32×10-05
decreased bone mineral content Zc3h12cem1(IMPC)Tcp HOM   Early adult 3.31×10-05
increased circulating triglyceride level Zc3h12cem1(IMPC)Tcp HOM Early adult 8.67×10-05
increased neutrophil cell number Zc3h12cem1(IMPC)Tcp HOM Early adult 3.51×10-07
increased grip strength Zc3h12cem1(IMPC)Tcp HOM Early adult 4.39×10-05
enlarged lymph nodes Zc3h12cem1(IMPC)Tcp HOM Early adult 0.00

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Viewing: all phenotypes

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.

Eye Morphology

Images Ophthalmoscopy

97 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

Histopathology

Images

17 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

Gross Pathology and Tissue Collection

Images

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Eye Morphology

Images Slit Lamp

3 Images

Human diseases caused by Zc3h12c 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 Zc3h12c by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Immunodeficiency 14A, Autosomal Dominant
Increased proportion of transitional B cells, Decreased proportion of class-switched memory B cel... OMIM:615513
Immunodeficiency 64
Abnormal CD4:CD8 ratio, Mediastinal lymphadenopathy, Defective T cell proliferation, Lymphadenopa... OMIM:618534
Immunodeficiency 24
Decreased specific pneumococcal antibody level, Defective T cell proliferation, Decreased circula... OMIM:615897
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Neutropenia, Leukopenia, Anemia, Splenomegaly, Increased circulating antibody level... OMIM:615285
B-Cell Expansion With Nfkb And T-Cell Anergy
Increased B cell count, Decreased specific antibody response to polysaccharide vaccine, Decreased... OMIM:616452
Immunodeficiency 72 With Autoinflammation
Increased B cell count, Increased proportion of memory T cells, Lymphadenopathy, Increased circul... OMIM:618982
Immunodeficiency With Hyper-Igm, Type 3
Neutropenia, Decreased circulating IgA level, Impaired memory B cell generation, Decreased circul... OMIM:606843
Autoimmune Lymphoproliferative Syndrome
Hepatomegaly, Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, F... OMIM:601859
Lymphoma, Hodgkin, Classic
Impaired lymphocyte transformation with phytohemagglutinin, Polyclonal elevation of IgM OMIM:236000
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
B lymphocytopenia, Decreased circulating IgG level, Abnormally low T cell receptor excision circl... OMIM:618987
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Fluctuating splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Lymphadenopathy, ... OMIM:619220
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Neutropenia, Lymphadenopathy, Increased circulating IgA level, Decreased lymphocyte proliferation... ORPHA:169154
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Leukemia, Monoclonal immunoglobulin M proteinemia, Impaired lymphocyte transformation with phytoh... OMIM:153600
Autoimmune Lymphoproliferative Syndrome, Type Iia
Increased B cell count, Hepatomegaly, Elevated proportion of CD4-negative, CD8-negative, alpha-be... OMIM:603909
Lymphoproliferative Syndrome, X-Linked, 1
Hepatomegaly, Neutropenia, Lymphadenopathy, Reduced natural killer cell activity, Fulminant hepat... OMIM:308240
Immunodeficiency 27A
Thrombocytosis, Leukocytosis, Enlarged mesenteric lymph node, Lymphadenopathy, Anemia, Increased ... OMIM:209950
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Absent tonsils, Decreased circulating IgA level, Decreased circulating IgG level, Abnormality of ... OMIM:611926
Persistent Polyclonal B-Cell Lymphocytosis
Hepatomegaly, Lymphocytosis, Decreased circulating total IgM, Splenomegaly OMIM:606445
Histiocytosis, Familial Lipochrome
Increased alpha-globulin, Increased circulating antibody level, Histiocytosis OMIM:235900
Combined Immunodeficiency, X-Linked
Decreased circulating IgG level, Decreased proportion of CD4-positive helper T cells, Decreased p... OMIM:312863
Immunodeficiency 18
Decreased proportion of CD3-positive T cells, Defective T cell proliferation, Lymphopenia OMIM:615615
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased B cell count, Hepatomegaly, Decreased proportion of class-switched memory B cells, Medi... OMIM:615559
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
Decreased circulating IgG level, T lymphocytopenia OMIM:242870
Caspase 8 Deficiency
Decreased circulating IgA level, Lymphadenopathy, Decreased circulating IgG level, Reduced CD95-i... OMIM:607271
Immunodeficiency 25
Complete or near-complete absence of specific antibody response to tetanus vaccine, Increased cir... OMIM:610163
Immunodeficiency 86
Decreased circulating IgG level, Impaired oxidative burst, Increased circulating IgM level OMIM:619549
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Hypoplasia of the thymus, Reduced antigen-specific T cell proliferation, Reduced delayed hypersen... OMIM:617241
Schnitzler Syndrome
Leukocytosis, Hepatomegaly, Lymphadenopathy, Anemia, Splenomegaly, Increased circulating IgM level ORPHA:37748
Combined Cellular And Humoral Immune Defects With Granulomas
B lymphocytopenia, Decreased circulating IgG level, T lymphocytopenia OMIM:233650
Immunodeficiency 15A
Decreased proportion of memory B cells, Decreased proportion of CD4-positive helper T cells, Decr... OMIM:618204
Wiskott-Aldrich Syndrome 2
Thrombocytopenia, Reduced natural killer cell activity, Defective T cell proliferation, Decreased... OMIM:614493
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Cutaneous anergy, Splenomegaly, Hypersplenism, Decreased helper T cell proportion, Pancytopenia OMIM:183350
Lymphoid System Deterioration, Progressive
Abnormal T cell morphology, Decreased circulating IgG level, Lymphopenia, Decreased circulating t... OMIM:247630
Ras-Associated Autoimmune Leukoproliferative Disorder
Hepatomegaly, Neutropenia, Monocytosis, Leukemia, Decreased lymphocyte apoptosis, Splenomegaly, A... OMIM:614470
Immunodeficiency, Common Variable, 1
B lymphocytopenia, Hepatomegaly, Decreased proportion of class-switched memory B cells, Neutropen... OMIM:607594
Immunoerythromyeloid Hypoplasia
Decreased circulating IgG level, Erythroid hypoplasia OMIM:242880
Hepatic Venoocclusive Disease With Immunodeficiency
Abnormality of the liver, Decreased circulating IgG level, Absence of lymph node germinal center OMIM:235550
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Leukocytosis, Increased proportion of CD4-positive T cells, Lymphadenopathy, Increased circulatin... OMIM:617099
Mu-Heavy Chain Disease
Hepatomegaly, Abnormal B cell count, Lymphadenopathy, Anemia, Splenomegaly, Increased circulating... ORPHA:100024
Pulmonary Nodular Lymphoid Hyperplasia
Plasmacytosis, Mediastinal lymphadenopathy, Follicular hyperplasia ORPHA:60026
Lymphoproliferative Syndrome 3
Lymphadenopathy, Decreased circulating antibody level, Reduced natural killer cell count, Hepatos... OMIM:618261
Immunodeficiency With Hyper-Igm, Type 5
Lymphadenopathy, Decreased circulating IgA level, Decreased circulating IgG level, Impaired Ig cl... OMIM:608106
Immunodeficiency 52
Coombs-positive hemolytic anemia, Increased proportion of gamma-delta T cells, Lymphadenopathy, D... OMIM:617514
X-Linked Lymphoproliferative Disease
Lymphadenopathy, Decreased circulating antibody level, Splenomegaly, Absent natural killer cells,... ORPHA:2442
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Hepatomegaly, Lymphadenopathy, Splenomegaly, Increased circulating antibody level, Autoimmune hem... OMIM:618495
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Absent tonsils, B lymphocytopenia, Lack of T cell function, Abnormality of humoral immunity, Incr... ORPHA:277
Immunodeficiency With Hyper-Igm, Type 1
Hepatomegaly, Neutropenia, Chronic hepatitis, Sclerosing cholangitis, Decreased circulating IgA l... OMIM:308230
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Increased circulating IgA level, Thrombocytopenia OMIM:314000
Severe Combined Immunodeficiency, X-Linked
Hepatomegaly, Impaired lymphocyte transformation with phytohemagglutinin, Agammaglobulinemia, Dec... OMIM:300400
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive
Increased circulating interleukin 6, Decreased proportion of class-switched memory B cells, Decre... OMIM:618944
Immunodeficiency, Common Variable, 3
Decreased proportion of class-switched memory B cells, Reduced isohemagglutinin level, Decreased ... OMIM:613493
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Absent tonsils, Hepatomegaly, Decreased proportion of naive T cells, Lymph node hypoplasia, Decre... ORPHA:276
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Hypoplasia of the thymus, Agammaglobulinemia, Lymphopenia OMIM:200900
Transcobalamin Deficiency
Neutropenia, Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulat... ORPHA:859
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Mediastinal lymphadenopathy, Decreased CD69 upregulation upon TCR activation, Lymphadenopathy, De... OMIM:300853
Immunodeficiency 14B, Autosomal Recessive
Thrombocytosis, Leukocytosis, B lymphocytopenia, Monocytosis, Decreased circulating IgA level, De... OMIM:619281
Leukocyte Adhesion Deficiency, Type Iii
Leukocytosis, Hepatomegaly, Anemia, Abnormality of the lymph nodes, Splenomegaly, Hepatosplenomeg... OMIM:612840
Candidiasis, Familial, 2
Lymphadenopathy, Increased circulating IgE level, Hypereosinophilia, Decreased serum iron OMIM:212050
Sting-Associated Vasculopathy, Infantile-Onset
Thrombocytosis, Leukopenia, Increased circulating IgA level, Paratracheal lymphadenopathy, Anemia... OMIM:615934
Neutropenia, Chronic Familial
Increased circulating antibody level, Neutropenia OMIM:162700
Immunoglobulin A Deficiency 2
Decreased circulating IgA level, Abnormal lymphocyte morphology OMIM:609529
Immunodeficiency 75
Lymphadenopathy, Hepatosplenomegaly, Decreased proportion of class-switched memory B cells, Folli... OMIM:619126
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Plasmacytosis, Increased circulating antibody level, Lymphopenia, Autoimmune hemolytic anemia OMIM:247800
Immunodeficiency 17
Decreased proportion of CD8-positive T cells, Autoimmune hemolytic anemia OMIM:615607
Boutonneuse Fever
Leukopenia, Lymphadenopathy, Increased circulating IgG level, Increased circulating IgM level, Ce... ORPHA:83313
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Hepatomegaly, Abnormal B cell count, Lymphadenitis, Decreased circulating IgA level, Decreased ci... ORPHA:331206
Kimura Disease
Lymphadenopathy, Increased circulating IgE level, Eosinophilia, Follicular hyperplasia ORPHA:482
Adult Idiopathic Neutropenia
Neutropenia, Monocytosis, Increased circulating IgM level, Lymphopenia, Monocytopenia ORPHA:2688
Immunodeficiency 89 And Autoimmunity
Hypochromic microcytic anemia, Increased circulating IgA level, Increased circulating IgG level, ... OMIM:619632
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive
Lymphadenopathy, Hepatomegaly, T lymphocytopenia, Splenomegaly OMIM:608971
Immunodeficiency 70
B lymphocytopenia, Decreased circulating total IgA, Decreased circulating total IgG, Decreased ci... OMIM:618969
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Lymphadenopathy, Decreased circulating antibody level, Anemia, Abnormal natural killer cell physi... OMIM:613101
Immunodeficiency, Common Variable, 7
Decreased specific pneumococcal antibody level, Decreased circulating total IgG, Reduced isohemag... OMIM:614699
Hemophagocytic Lymphohistiocytosis, Familial, 3
Anemia, Hepatosplenomegaly, Hypertriglyceridemia, Granulocytopenia, Hemophagocytosis OMIM:608898
Autoimmune Lymphoproliferative Syndrome
Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, Neutropenia in ... ORPHA:3261
Autoinflammation With Arthritis And Dyskeratosis
Hepatomegaly, Increased circulating IgA level, Increased circulating IgG level, Splenomegaly, Hyp... OMIM:617388
Lymphangiectasia, Intestinal
Intestinal lymphangiectasia, Decreased circulating IgG level, Lymphopenia, Neonatal hypoproteinemia OMIM:152800
Immunodeficiency 76
B lymphocytopenia, Lymphadenopathy, Splenomegaly, Lymphopenia, T lymphocytopenia OMIM:619164
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Hepatomegaly, Lymphadenopathy, Decreased circulating IgA level, Decreased circulating IgG level, ... OMIM:616100
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Lymphadenopathy, Hepatitis, Splenomegaly, Autoimmune thrombocytopenia, Lymphopenia, Hemolytic ane... ORPHA:444463
Primary Myelofibrosis
Leukocytosis, Thrombocytosis, Hepatomegaly, Lymphadenopathy, Anemia, Splenomegaly, Hepatosplenome... ORPHA:824
Coronary Artery Disease, Autosomal Dominant 2
Hyperlipidemia, Osteoporosis, Gout, Hypercholesterolemia, Hypertriglyceridemia OMIM:610947
Immunodeficiency, Common Variable, 14
Decreased proportion of class-switched memory B cells, Decreased specific antibody response to va... OMIM:617765
Combined Immunodeficiency Due To Zap70 Deficiency
Lymphadenopathy, Lymphadenitis, Decreased lymphocyte proliferation in response to mitogen, Absenc... ORPHA:911
Cernunnos-Xlf Deficiency
B lymphocytopenia, Decreased circulating antibody level, Anemia, Lymphopenia, Thrombocytopenia, T... ORPHA:169079
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Thrombocytosis, Neutropenia, Monocytosis, Congenital agranulocytosis, Anemia, Increased circulati... OMIM:202700
Immunodeficiency 60 And Autoimmunity
Decreased circulating IgA level, Decreased circulating IgG level, Splenomegaly, Decreased basophi... OMIM:618394
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
B lymphocytopenia, Neutropenia, Leukopenia, Partial absence of specific antibody response to Haem... OMIM:618986
Lymphoproliferative Syndrome 1
Hepatomegaly, Leukopenia, Lymphadenopathy, Decreased circulating IgG level, Decreased circulating... OMIM:613011
Reticuloendotheliosis, X-Linked
Lymphadenopathy, Hepatosplenomegaly, Anemia, Jaundice OMIM:312500
Agammaglobulinemia 8, Autosomal Dominant
B lymphocytopenia, Agammaglobulinemia OMIM:616941
Immunodeficiency 50
Decreased circulating antibody level, Neutropenia, Lymphopenia OMIM:300988
Niemann-Pick Disease, Type B
Decreased HDL cholesterol concentration, Increased LDL cholesterol concentration, Bone-marrow foa... OMIM:607616
Immunodeficiency, Common Variable, 11
Increased circulating IgE level, Decreased circulating IgG level, Decreased proportion of class-s... OMIM:615767
Immunodeficiency 85 And Autoimmunity
Decreased circulating IgA level, Decreased circulating IgG level, Reduced natural killer cell cou... OMIM:619510
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Neutropenia, Decreased circulating total IgM OMIM:610798
Hemophagocytic Lymphohistiocytosis, Familial, 4
Neutropenia, Lymphadenopathy, Anemia, Splenomegaly, Increased circulating ferritin concentration,... OMIM:603552
Immunodeficiency With Hyper-Igm, Type 2
Lymphadenopathy, Decreased circulating IgG level, Decreased circulating IgA level, Impaired Ig cl... OMIM:605258
Hyper-Igd Syndrome
Leukocytosis, Lymphadenopathy, Lymphadenitis, Increased circulating IgA level, Splenomegaly, Neut... OMIM:260920
Immunodeficiency 92
Leukocytosis, B lymphocytopenia, Decreased proportion of class-switched memory B cells, Thrombocy... OMIM:619652
Immunodeficiency, Common Variable, 2
Hepatomegaly, Impaired T cell function, Lymphadenopathy, Decreased circulating IgA level, Decreas... OMIM:240500
Proteasome-Associated Autoinflammatory Syndrome 2
Lymphadenopathy, Thrombocytopenia, Increased circulating antibody level OMIM:618048
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Decreased circulating total IgA, Decreased circulating IgG level, Hepatitis, Decreased lymphocyte... ORPHA:169160
Pgm3-Cdg
Abnormal CD4:CD8 ratio, Neutropenia, Abnormal proportion of CD8-positive T cells, Leukopenia, Neu... ORPHA:443811
Rosaï-Dorfman Disease
Lymphadenopathy, Dysgammaglobulinemia, Anemia ORPHA:158014
Proteasome-Associated Autoinflammatory Syndrome 5
Hypertriglyceridemia, Splenomegaly OMIM:619175
Immunodeficiency 84
B lymphocytopenia, Perianal abscess, Splenomegaly OMIM:619437
Leishmaniasis
Hepatomegaly, Leukopenia, Lymphadenopathy, Anemia, Splenomegaly, Abnormal macrophage morphology, ... ORPHA:507
Cd8 Deficiency, Familial
Absence of CD8-positive T cells OMIM:608957
Hypertriglyceridemia 2
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:619324
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Hemolytic anemia, B lymphocytopenia, Lymphadenopathy, Decreased circulating IgA level, Decreased ... OMIM:606367
Alpha-Heavy Chain Disease
Hepatomegaly, Lymphadenopathy, Anemia, Splenomegaly, Dysgammaglobulinemia, Hypocalcemia ORPHA:100025
Mantle Cell Lymphoma
Lymphadenopathy, Splenomegaly ORPHA:52416
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
B lymphocytopenia, Hepatomegaly, Decreased circulating IgA level, Reduced red cell adenosine deam... OMIM:102700
Atherosclerosis Susceptibility
Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:108725
Multiple Myeloma
Hyperproteinemia, Hypercalcemia, Lymphadenopathy, Increased circulating IgA level, Elevated circu... ORPHA:29073
Immunodeficiency 7
Lymphadenopathy, Hypereosinophilia OMIM:615387
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Decreased circulating IgA level, Reduced natural killer cell count, T lymphocytopenia, Increased ... OMIM:242860
Ataxia-Pancytopenia Syndrome
Hypoplastic anemia, Abnormal platelet function, Acute myelomonocytic leukemia, Decreased circulat... ORPHA:2585
Immunodeficiency 40
Lymphopenia OMIM:616433
Burkitt Lymphoma
Abnormality of the spleen, Abnormality of the lymph nodes, Abnormality of the pancreas, Abnormali... ORPHA:543
Primary Intestinal Lymphangiectasia
Hypoproteinemia, Abnormal lymphatic vessel morphology, Decreased circulating IgA level, Decreased... ORPHA:90362
Wiskott-Aldrich Syndrome, Autosomal Dominant
Absent microvilli on the surface of peripheral blood lymphocytes, Iron deficiency anemia, Decreas... OMIM:600903
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
B lymphocytopenia, Decreased specific antibody response to polysaccharide vaccine, Decreased spec... ORPHA:70593
Griscelli Syndrome, Type 2
Reduced delayed hypersensitivity, Hepatosplenomegaly, Hemophagocytosis OMIM:607624
Axonal Polyneuropathy Associated With Igg/Igm/Iga Monoclonal Gammopathy
Monoclonal immunoglobulin M proteinemia, Increased circulating beta-2-microglobulin level, Cryogl... ORPHA:209004
Purine Nucleoside Phosphorylase Deficiency
Hypouricemia, Neutropenia in presence of anti-neutropil antibodies, Lymph node hypoplasia, Impair... OMIM:613179
Immunodeficiency With Hyper-Igm, Type 4
Autoimmune thrombocytopenia, Impaired Ig class switch recombination, Absence of lymph node germin... OMIM:608184
Agammaglobulinemia 7, Autosomal Recessive
Agammaglobulinemia, Neutropenia OMIM:615214
Hyperimmunoglobulin G1(A1) Syndrome
Increased circulating IgA level, Increased circulating IgG level OMIM:144120
Neutropenia-Monocytopenia-Deafness Syndrome
Abnormal macrophage morphology, Abnormality of neutrophils ORPHA:2690
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, B lymphocytopenia, Neutropenia, Lymphadenopathy, Abscess, Splenomegaly, I... OMIM:150550
Asthma, Short Stature, And Elevated Iga
Increased circulating IgA level OMIM:208600
Iga Pemphigus
Increased circulating IgA level, Monoclonal elevation of circulating IgA, Eosinophilia, Cutaneous... ORPHA:555905
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Impaired lymphocyte transformation with phytohemagglutinin, Cutaneous anergy, Decreased lymphocyt... OMIM:600802
Beta-Thalassemia Intermedia
Leukocytosis, Hepatomegaly, Abnormality of iron homeostasis, Erythroid hyperplasia, Elevated hepa... ORPHA:231222
Angiostrongyliasis
Increased circulating IgA level, Increased circulating IgG level, Increased circulating specific ... ORPHA:74
Immunodeficiency, Common Variable, 13
Pancytopenia, B lymphocytopenia, Acute lymphoblastic leukemia, Decreased circulating antibody level OMIM:616873
Immunodeficiency 8
Lymphopenia OMIM:615401
Osteopetrosis, Autosomal Recessive 5
Hepatomegaly, Anemia, Decreased osteoclast count, Hyperbilirubinemia, Splenomegaly, Extramedullar... OMIM:259720
Whim Syndrome 1
Decreased circulating IgG level, Decreased circulating antibody level, Neutropenia OMIM:193670
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
B lymphocytopenia, Impaired lymphocyte transformation with phytohemagglutinin, Lack of T cell fun... ORPHA:35078
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Increased CD4:CD8 ratio, Impaired lymphocyte transformation with phytohemagglutinin, Decreased sp... OMIM:617006
Sea-Blue Histiocyte Disease
Cirrhosis, Thrombocytopenia, Sea-blue histiocytosis, Splenomegaly OMIM:269600
Aicardi-Goutieres Syndrome 2
Lymphocytosis OMIM:610181
Tularemia
Brain abscess, Leukocytosis, Mediastinal lymphadenopathy, Lymphadenopathy, Anemia, Abnormal nasop... ORPHA:3392
Kerion Celsi
Lymphadenopathy, Recurrent cutaneous abscess formation ORPHA:499
Immunodeficiency 33
Increased circulating IgA level, Decreased circulating total IgM OMIM:300636
Hereditary Spherocytosis
Hepatomegaly, Anemia, Cholelithiasis, Hyperbilirubinemia, Splenomegaly, Extramedullary hematopoie... ORPHA:822
Mast Cell Sarcoma
Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Splenomegaly, Mastocytosis ORPHA:66661
Wiskott-Aldrich Syndrome
Absent microvilli on the surface of peripheral blood lymphocytes, Impaired lymphocyte transformat... OMIM:301000
Subacute Inflammatory Demyelinating Polyneuropathy
Leukocytosis, Increased circulating IgG level ORPHA:206594
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Hepatomegaly, Decreased proportion of class-switched memory B cells, Decreased proportion of marg... OMIM:619375
Fish-Eye Disease
Increased LDL cholesterol concentration, Increased VLDL cholesterol concentration, Decreased HDL ... OMIM:136120
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Aplasia of the thymus, Panhypogammaglobulinemia, Absent tonsils, Lymph node hypoplasia OMIM:602450
Lymphoproliferative Syndrome 2
Hepatomegaly, Lymphadenopathy, Decreased circulating antibody level, Decreased lymphocyte prolife... OMIM:615122
Glycogen Storage Disease Vi
Hypercholesterolemia, Hypertriglyceridemia, Hyperlipidemia OMIM:232700
Reticular Dysgenesis
Lack of T cell function, Leukopenia, Impaired T cell function, Hypoplasia of the thymus, Congenit... OMIM:267500
Macrophage Activation Syndrome
Hepatomegaly, Increased circulating interleukin 6, Neutropenia, Lymphadenopathy, Hepatitis, Anemi... ORPHA:158061
Immunodeficiency, Common Variable, 8, With Autoimmunity
Chronic neutropenia, B lymphocytopenia, Decreased proportion of class-switched memory B cells, De... OMIM:614700
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
B lymphocytopenia, Panhypogammaglobulinemia, T lymphocytopenia OMIM:601457
Retinal Telangiectasia And Hypogammaglobulinemia
Reduced delayed hypersensitivity, Decreased circulating IgG level OMIM:267900
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
T lymphocytopenia, Decreased helper T cell proportion OMIM:601705
Selective Igm Deficiency
Decreased specific antibody response to vaccination, Neutropenia in presence of anti-neutropil an... ORPHA:331235
Aicardi-Goutieres Syndrome 7
Thrombocytopenia, Increased circulating antibody level, Hepatomegaly, Splenomegaly OMIM:615846
Immunodeficiency 32A
Lymphadenopathy OMIM:614893
Osteopetrosis, Autosomal Recessive 2
Anemia, Hepatosplenomegaly, Extramedullary hematopoiesis, Pancytopenia, Thrombocytopenia OMIM:259710
Omenn Syndrome
B lymphocytopenia, Hepatomegaly, Hypoproteinemia, Lymphadenopathy, Hypoplasia of the thymus, Anem... OMIM:603554
Glycogen Storage Disease Ixa1
Hypercholesterolemia, Hypertriglyceridemia OMIM:306000
Hypertriglyceridemia, Transient Infantile
Hypertriglyceridemia, Splenomegaly OMIM:614480
Combined Immunodeficiency Due To Dock8 Deficiency
B lymphocytopenia, T lymphocytopenia, Increased circulating IgE level ORPHA:217390
Squamous Cell Carcinoma Of The Esophagus
Lymphadenopathy ORPHA:99977
Polyneuropathy Associated With Igm Monoclonal Gammapathy With Anti-Mag
Monoclonal immunoglobulin M proteinemia ORPHA:639
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency
Lymphadenopathy ORPHA:319600
Lymphoproliferative Syndrome, X-Linked, 2
Hepatomegaly, Hepatitis, Decreased circulating antibody level, Splenomegaly, Increased circulatin... OMIM:300635
Microcephalic Primordial Dwarfism, Toriello Type
Decreased circulating IgG level, Neutropenia, Decreased circulating total IgM ORPHA:2643
Familial Cold Autoinflammatory Syndrome 2
Lymphadenopathy, Leukocytosis, Elevated circulating C-reactive protein concentration, Splenomegaly OMIM:611762
Neutrophilia, Hereditary
Neutrophilia, Hepatosplenomegaly OMIM:162830
Thrombocytopenia 1
Decreased mean platelet volume, Increased circulating IgA level, Intermittent thrombocytopenia, I... OMIM:313900
Immunodeficiency 81
Decreased proportion of class-switched memory B cells, Recurrent cutaneous abscess formation, Abs... OMIM:619374
Autoinflammation With Episodic Fever And Lymphadenopathy
Hepatomegaly, Lymphadenopathy, Splenomegaly, Microcytic anemia, Recurrent tonsillitis OMIM:618852
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive
Increased LDL cholesterol concentration, Hypertriglyceridemia, Elbow flexion contracture, Elevate... OMIM:616516
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Acute lymphoblastic leukemia, Neutropenia, Anemia, Hyperbilirubinemia, Splenomegaly, Increased ci... ORPHA:158057
Hyperimmunoglobulinemia D With Periodic Fever
Lymphadenopathy, Hepatomegaly, Increased circulating IgA level, Peritonitis ORPHA:343
Hyperlipoproteinemia, Type Ii, And Deafness
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:144300
Mucopolysaccharidosis-Plus Syndrome
Hepatomegaly, Neutropenia, Leukopenia, Anemia, Bone marrow hypocellularity, Splenomegaly, Macrove... OMIM:617303
Igg4-Related Aortitis
Increased circulating IgG4 level, Complement deficiency, Increased circulating IgE level, Increas... ORPHA:449400
Immunodeficiency 23
Neutropenia, Abscess, Increased circulating IgG level, Increased circulating IgE level, Increased... OMIM:615816
Tempi Syndrome
Polycythemia, Increased hematocrit, Increased circulating IgG level ORPHA:284227
Macrocephaly/Autism Syndrome
Hepatomegaly, Decreased circulating antibody level, Lymphopenia, Splenomegaly OMIM:605309
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Abnormal T cell morphology, Decreased circulating IgA level, Macronodular cirrhosis OMIM:215250
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
B lymphocytopenia, Impaired lymphocyte transformation with phytohemagglutinin, Hypoplasia of the ... OMIM:619313
Immunodeficiency 37
Decreased circulating antibody level, Decreased proportion of central memory CD4-positive, alpha-... OMIM:616098
Lecithin:Cholesterol Acyltransferase Deficiency
Hemolytic anemia, Normochromic anemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:245900
Immunodeficiency 57 With Autoinflammation
B lymphocytopenia, Decreased circulating antibody level, Reduced natural killer cell count, Peria... OMIM:618108
Microcephalic Primordial Dwarfism, Toriello Type
Decreased circulating IgG level, Neutropenia, Decreased circulating total IgM OMIM:251190
Immunodeficiency 38 With Basal Ganglia Calcification
Lymphadenopathy OMIM:616126
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Brain abscess, Abnormality of the lymphatic system, Anemia, Abnormality of the lymph nodes, Abnor... ORPHA:54251
Immunodeficiency 55
Lymphadenopathy, Neutropenia OMIM:617827
Aregenerative Anemia
Neutropenia, Abnormal proportion of CD8-positive T cells, Lymphadenopathy, Abnormality of interle... ORPHA:101096
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency
Hypoproteinemia, Decreased circulating IgG level, Neutropenia, Hypoalbuminemia OMIM:600351
Cholesterol-Ester Transfer Protein Deficiency
Hyperlipidemia, Hyperlipoproteinemia, Hypercholesterolemia, Hypotriglyceridemia, Increased HDL ch... ORPHA:79506
Bone Marrow Failure Syndrome 4
Leukopenia, Decreased circulating antibody level, Anemia, Bone marrow hypocellularity, Thrombocyt... OMIM:618116
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypertriglyceridemia ORPHA:366
Reticular Dysgenesis
Leukopenia, Decreased circulating antibody level, Anemia, Aplasia/Hypoplasia of the thymus, Abnor... ORPHA:33355
Dominant Beta-Thalassemia
Abnormality of iron homeostasis, Hypochromic microcytic anemia, Hepatic fibrosis, Hepatocellular ... ORPHA:231226
Simple Cryoglobulinemia
Chronic lymphatic leukemia, Monoclonal elevation of circulating IgA, Monoclonal immunoglobulin M ... ORPHA:91139
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Decreased proportion of CD3-positive T cells, Decreased circulating IgG level, Decreased circulat... ORPHA:275
Transcobalamin Ii Deficiency
Macrocytic anemia, Neutropenia, Decreased circulating IgA level, Decreased circulating IgG level,... OMIM:275350
Ataxia-Telangiectasia
Leukemia, Decreased circulating IgA level, Hypoplasia of the thymus, Defective B cell differentia... OMIM:208900
Heme Oxygenase 1 Deficiency
Thrombocytosis, Hepatomegaly, Increased circulating interleukin 6, Elevated circulating C-reactiv... OMIM:614034
Igg4-Related Submandibular Gland Disease
Cholangitis, Lymphadenopathy, Retroperitoneal fibrosis, Increased circulating IgG4 level, Increas... ORPHA:449432
Proteasome-Associated Autoinflammatory Syndrome 3
Hepatomegaly, Lymphadenopathy, Anemia, Splenomegaly, Increased circulating antibody level, Lympho... OMIM:617591
Indolent Systemic Mastocytosis
Hepatomegaly, Lymphadenopathy, Abnormal mast cell morphology, Splenomegaly, Increased proportion ... ORPHA:98848
Sézary Syndrome
Hepatomegaly, Lymphadenopathy, Abnormal immunoglobulin level, Abnormal lymphocyte morphology, Spl... ORPHA:3162
Cinca Syndrome
Leukocytosis, Lymphadenopathy, Anemia, Hepatosplenomegaly, Eosinophilia, Elevated circulating C-r... OMIM:607115
Lichtenstein Syndrome
Decreased circulating IgA level, Neutropenia OMIM:246550
Beta-Thalassemia Major
Hepatomegaly, Abnormality of iron homeostasis, Anisopoikilocytosis, Hypochromic microcytic anemia... ORPHA:231214
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Neutropenia, Coombs-positive hemolytic anemia, Lymphadenopathy, Hepatitis, Anemia, Increased circ... OMIM:304790
Acquired Partial Lipodystrophy
Hepatic steatosis, Lymphocytosis, Decreased serum complement C3 ORPHA:79087
Morbid Obesity And Spermatogenic Failure
Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypercholestero... OMIM:615703
Congenital Disorder Of Glycosylation, Type Iir
Hepatomegaly, Decreased circulating antibody level, Micronodular cirrhosis, Hepatic steatosis, De... OMIM:301045
Immunodeficiency 68
B lymphocytopenia, Lymphadenitis, Abscess, T lymphocytopenia, Abnormal natural killer cell count OMIM:612260
Autoimmune Hepatitis
Hepatocellular carcinoma, Fulminant hepatitis, Increased circulating IgG level, Acute hepatitis, ... ORPHA:2137
Griscelli Syndrome
Hepatomegaly, Leukopenia, Lymphadenopathy, Abnormal circulating lipid concentration, Hepatitis, B... ORPHA:381
Immunodeficiency 36
Chronic lymphatic leukemia, Decreased circulating antibody level, Lymphopenia, Splenomegaly OMIM:616005
Combined Immunodeficiency Due To Partial Rag1 Deficiency
B lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, Splenomegaly, T lymphocy... ORPHA:231154
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Portal hypertension, Hepatomegaly, Absence of lymph node germinal center, Anemia, Jaundice, Abnor... ORPHA:79124
Familial Hemophagocytic Lymphohistiocytosis
Hepatomegaly, Abnormality of serum cytokine level, Increased circulating interleukin 6, Neutropen... ORPHA:540
Agammaglobulinemia 1, Autosomal Recessive
Decreased circulating antibody level, B lymphocytopenia, Agammaglobulinemia, Neutropenia OMIM:601495
Immunodeficiency 19
Lymphopenia OMIM:615617
Neutropenia, Severe Congenital, 2, Autosomal Dominant
B lymphocytopenia, Neutropenia, Monocytosis OMIM:613107
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
T lymphocytopenia, Hypocalcemia DECIPHER:16
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Decreased mean platelet volume, Thrombocytopenia, Lymphocytosis, Lymphadenopathy OMIM:617718
Hypercholesterolemia, Familial, 4
Hypercholesterolemia, Increased VLDL cholesterol concentration, Hypertriglyceridemia OMIM:603813
Lipodystrophy, Congenital Generalized, Type 3
Splenomegaly, Hypercholesterolemia, Hepatosplenomegaly, Hypertriglyceridemia, Hypocalcemia OMIM:612526
Thrombocytopenia, Cyclic
Thrombocytopenia, Neutropenia, Cyclic neutropenia OMIM:188020
Insulin-Resistance Syndrome Type B
Leukopenia, Increased circulating IgA level, Abnormal circulating lipid concentration, Abnormal c... ORPHA:2298
Immunodeficiency 13
B lymphocytopenia, Decreased proportion of CD4-positive helper T cells, Lymphopenia, Decreased CD... OMIM:615518
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Thrombocytosis, Macrocytic anemia, Megaloblastic anemia, Decreased circulating antibody level, Ly... OMIM:617780
Congenital Bile Acid Synthesis Defect Type 2
Abnormality of the intrahepatic bile duct, Hepatomegaly, Giant cell hepatitis, Abnormal serum bil... ORPHA:79303
Immunodeficiency, Common Variable, 6
Hepatomegaly, Decreased specific pneumococcal antibody level, Complete or near-complete absence o... OMIM:613496
O'Sullivan-Mcleod Syndrome
Eosinophilia, Increased circulating antibody level ORPHA:99965
Immunodeficiency 47
Hepatomegaly, Normocytic anemia, Hepatic fibrosis, Leukopenia, Decreased circulating total IgA, D... OMIM:300972
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Anemia, Splenomegaly, Increased circulating ferritin concentration, Hypertriglyceridemia, Pancyto... OMIM:618398
Deafness-Lymphedema-Leukemia Syndrome
Leukocytosis, Hepatomegaly, Acute leukemia, Lymphadenopathy, Bone marrow hypocellularity, Splenom... ORPHA:3226
Griscelli Syndrome Type 2
Hepatomegaly, Neutropenia, Hyperlipidemia, Lymphadenopathy, Splenomegaly, Pancytopenia, Hemophago... ORPHA:79477
Ectodermal Dysplasia And Immunodeficiency 1
Increased circulating IgA level, Reduced natural killer cell activity, Dysgammaglobulinemia, Incr... OMIM:300291
Immunodeficiency By Defective Expression Of Mhc Class Ii
Abnormal CD4:CD8 ratio, Neutropenia, Lack of T cell function, Neutropenia in presence of anti-neu... ORPHA:572
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Lymphadenopathy, Lymphadenitis, Abscess, Splenomegaly, Perianal abscess, Hepatosplenomegaly, Impa... OMIM:618935
Classic Mycosis Fungoides
Lymphadenopathy, Hepatomegaly, Abnormal lymphocyte morphology, Splenomegaly ORPHA:2584
Fgfr2-Related Bent Bone Dysplasia
Hepatosplenomegaly, Extramedullary hematopoiesis ORPHA:313855
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:86893
Brucellosis
Leukocytosis, Thrombocytosis, Hepatomegaly, Lung abscess, Leukopenia, Lymphadenopathy, Anemia, In... ORPHA:1304
Progressive Multifocal Leukoencephalopathy
Decreased proportion of CD8-positive T cells, Abnormal proportion of CD4-positive T cells ORPHA:217260
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Hypoproteinemia, Decreased circulating antibody level, Lymphopenia ORPHA:1116
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hyponatremia, Hypoproteinemia, Decreased HDL cholesterol concentration, Leukopenia, Lymphadenopat... OMIM:267700
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Leukocytosis, Thrombocytosis, Defective T cell proliferation, Increased circulating IgG level, Hy... OMIM:618213
Glycosylphosphatidylinositol Biosynthesis Defect 17
Hypertriglyceridemia OMIM:618010
Igg4-Related Dacryoadenitis And Sialadenitis
Lymphadenopathy, Increased circulating IgA level, Retroperitoneal fibrosis, Increased circulating... ORPHA:79078
Cholesteryl Ester Storage Disease
Hypercholesterolemia, Hypertriglyceridemia, Splenomegaly ORPHA:75234
Immunodeficiency 46
Anemia, Decreased circulating antibody level, Neutropenia, Intermittent thrombocytopenia OMIM:616740
Igg4-Related Pachymeningitis
Lymphadenitis, Increased circulating IgG4 level, Pancreatitis, Complement deficiency, Eosinophili... ORPHA:449427
Hypertriglyceridemia 1
Increased VLDL cholesterol concentration, Hypertriglyceridemia OMIM:145750
Hyperlipoproteinemia, Type Iv
Increased VLDL cholesterol concentration, Hypertriglyceridemia OMIM:144600
Immunodeficiency 54
Lymphadenopathy, Reduced natural killer cell count, Hepatomegaly, Splenomegaly OMIM:609981
Proteasome-Associated Autoinflammatory Syndrome 1
Hepatomegaly, Increased circulating interleukin 6, Decreased HDL cholesterol concentration, Lymph... OMIM:256040
Neurodegeneration, Infantile-Onset, Biotin-Responsive
Decreased circulating IgG level OMIM:618973
Acute Monoblastic/Monocytic Leukemia
Leukocytosis, Anemia, Hypochromic anemia, Lymphocytosis, Acute monocytic leukemia, Cervical lymph... ORPHA:514
Chilblain Lupus
Increased circulating antibody level, Chronic myelomonocytic leukemia ORPHA:90280
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations
Neutropenia, Lymphopenia OMIM:614868
Roifman Syndrome
Lymphadenopathy, Hepatosplenomegaly, Eosinophilia, Decreased circulating antibody level ORPHA:353298
Immunodeficiency 67
Increased circulating IgE level, Transient neutropenia, Liver abscess OMIM:607676
Aggressive Systemic Mastocytosis
Leukocytosis, Neutropenia, Thrombocytopenia, Leukemia, Lymphadenopathy, Anemia, Abnormal mast cel... ORPHA:98850
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hepatomegaly, Hyponatremia, Hypoproteinemia, Leukopenia, Lymphadenopathy, Reduced natural killer ... OMIM:603553
Immunodeficiency, Common Variable, 5
Chronic decreased circulating total IgG OMIM:613495
Osteopetrosis, Autosomal Recessive 3
Hepatosplenomegaly, Anemia, Extramedullary hematopoiesis OMIM:259730
Acute Panmyelosis With Myelofibrosis
Acute myelomonocytic leukemia, Bone marrow hypocellularity, Splenomegaly, Acute myeloid leukemia,... ORPHA:86843
Primary Biliary Cholangitis
Abnormality of the intrahepatic bile duct, Hepatic fibrosis, Hepatocellular carcinoma, Increased ... ORPHA:186
Neutral Lipid Storage Disease With Myopathy
Elevated circulating creatine kinase concentration, Hypertriglyceridemia OMIM:610717
Glycerol Kinase Deficiency
Osteoporosis, Hypertriglyceridemia, Pathologic fracture OMIM:307030
Temple Syndrome
Joint hypermobility, Hypercholesterolemia, Hypertriglyceridemia, Flexion contracture OMIM:616222
Immune Deficiency, Familial Variable
Decreased circulating IgA level, Decreased circulating IgG level OMIM:146830
Hyper-Ige Recurrent Infection Syndrome 4B, Autosomal Recessive
Increased circulating IgE level, Eosinophilia OMIM:618523
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Hepatomegaly, Decreased circulating IgG level, Decreased circulating antibody level, Decreased ly... ORPHA:508533
Zika Virus Disease
Thrombocytopenia, Increased circulating IgM level ORPHA:448237
Waldenström Macroglobulinemia
Hepatomegaly, Normocytic anemia, Cryoglobulinemia, Leukemia, Lymphadenopathy, Monoclonal immunogl... ORPHA:33226
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hypertriglyceridemia OMIM:615924
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Eosinophilia, Lymphopenia, Arthritis, Limitation of joint mobility ORPHA:2582
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Leukopenia, Decreased circulating IgG level, Anemia, Bone marrow hypocellularity, Hepatosplenomeg... ORPHA:505248
Cyclic Neutropenia
Peritonitis, Lymphadenopathy, Perianal abscess, Lymphopenia, Cyclic neutropenia, Recurrent tonsil... ORPHA:2686
Hodgkin Lymphoma
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:98293
Lipodystrophy, Familial Partial, Type 5
Abnormal circulating lipid concentration, Hypertriglyceridemia OMIM:615238
Immunodeficiency, Common Variable, 4
Decreased circulating IgG level, Complete or near-complete absence of specific antibody response ... OMIM:613494
Follicular Lymphoma
Lymphadenopathy, Mediastinal lymphadenopathy, Abnormality of the peritoneum, Splenomegaly ORPHA:545
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant
Increased circulating IgE level, Eosinophilia OMIM:147060
Tick-Borne Encephalitis
Leukocytosis, Abnormality of serum cytokine level, Leukopenia, Increased circulating IgG level, I... ORPHA:297
Rajab Interstitial Lung Disease With Brain Calcifications 2
Joint hypermobility, Hepatosplenomegaly, Microcytic anemia, Hypertriglyceridemia, Hypoalbuminemia OMIM:619013
Sea-Blue Histiocytosis
Hepatomegaly, Mediastinal lymphadenopathy, Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis ORPHA:158029
Common Variable Immunodeficiency
Lymphadenopathy, Decreased circulating antibody level, Splenomegaly, Abnormality of the liver, Au... ORPHA:1572
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Abnormality of the intrahepatic bile duct, Interface hepatitis, Granulomatous cholangitis, Increa... ORPHA:562639
Adult-Onset Still Disease
Leukocytosis, Hepatomegaly, Abnormal circulating lipid concentration, Hepatitis, Bone marrow hypo... ORPHA:829
Gaucher Disease Type 1
Hepatomegaly, Leukopenia, Biliary tract obstruction, Anemia, Splenomegaly, Cirrhosis, Hyperspleni... ORPHA:77259
Congenital Toxoplasmosis
Hepatomegaly, Lymphadenopathy, Anemia, Thrombocytopenia, Jaundice ORPHA:858
Igg4-Related Kidney Disease
Abnormality of mesentery morphology, Lymphadenopathy, Lymphadenitis, Retroperitoneal fibrosis, In... ORPHA:449395
Immunodeficiency 91 And Hyperinflammation
Hepatomegaly, Monocytosis, Lymphadenopathy, Neutrophilia, Hepatosplenomegaly, Thrombocytopenia, E... OMIM:619644
Lipodystrophy, Familial Partial, Type 4
Hypertriglyceridemia OMIM:613877
Rhabdoid Tumor
Hypercalcemia, Lymphadenopathy, Anemia, Neoplasm of the liver, Thrombocytopenia ORPHA:69077
Coccidioidomycosis
Abnormality of the spleen, Mediastinal lymphadenopathy, Peritonitis, Lymphadenopathy, Abscess, Pa... ORPHA:228123
Ataxia-Telangiectasia With Generalized Skin Pigmentation And Early Death
Leukemia, Elevated alpha-fetoprotein, Abnormality of the thymus, Decreased circulating IgA level OMIM:208910
Osteopetrosis, Autosomal Recessive 7
Hepatomegaly, Hypocalcemic seizures, Decreased circulating IgA level, Decreased circulating IgG l... OMIM:612301
Hemophagocytic Syndrome Associated With An Infection
Hepatomegaly, Hyperproteinemia, Neutropenia, Abnormal cytokine signaling, Anemia, Splenomegaly, I... ORPHA:158048
Citrullinemia, Type Ii, Neonatal-Onset
Decreased HDL cholesterol concentration, Hyperbilirubinemia, Hypercholesterolemia, Hypertriglycer... OMIM:605814
Mevalonic Aciduria
Fluctuating splenomegaly, Leukocytosis, Elevated circulating C-reactive protein concentration, No... OMIM:610377
Lysosomal Acid Lipase Deficiency
Decreased HDL cholesterol concentration, Leukopenia, Increased LDL cholesterol concentration, Bon... OMIM:278000
Gamma-Heavy Chain Disease
Hepatomegaly, Lymphadenopathy, Abnormal lymphocyte morphology, Anemia, Splenomegaly, Autoimmune t... ORPHA:100026
Idiopathic Chronic Eosinophilic Pneumonia
Leukocytosis, Hypereosinophilia, Elevated circulating C-reactive protein concentration, Increased... ORPHA:2902
Prolidase Deficiency
Hepatomegaly, Anemia, Splenomegaly, Increased circulating antibody level, Prolonged neonatal jaun... OMIM:170100
Bone Marrow Failure Syndrome 6
Neutropenia, Increased mean corpuscular volume, Anemia, Bone marrow hypocellularity, Osteopenia, ... OMIM:618849
Cirrhosis, Familial
Cirrhosis, Chronic active hepatitis, Increased circulating antibody level, Hepatitis OMIM:118900
Adenocarcinoma Of The Esophagus
Lymphadenopathy ORPHA:99976
Cystic Echinococcosis
Hepatomegaly, Splenic cyst, Peritoneal abscess, Biliary tract obstruction, Abscess, Hepatic cysts... ORPHA:400
Gamma-A-Globulin, Defect In Assembly Of
Decreased circulating IgA level OMIM:137050
Diffuse Cutaneous Mastocytosis
Abnormality of the spleen, Hepatomegaly, Lymphadenopathy, Abnormality of the liver, Myeloprolifer... ORPHA:79456
Mental Retardation, X-Linked, Syndromic, Chudley-Schwartz Type
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM OMIM:300861
Cinca Syndrome
Leukocytosis, Hepatomegaly, Lymphadenopathy, Anemia, Abnormal granulocyte morphology, Splenomegal... ORPHA:1451
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Hypertriglyceridemia ORPHA:436182
Combined Immunodeficiency With Faciooculoskeletal Anomalies
B lymphocytopenia, Decreased circulating total IgA, Decreased specific antibody response to vacci... ORPHA:221139
Ebola Hemorrhagic Fever
Leukopenia, Hepatitis, Increased circulating antibody level, Acute pancreatitis, Lymphopenia, Thr... ORPHA:319218
Lipase Deficiency, Combined
Hypertriglyceridemia OMIM:246650
Omenn Syndrome
Leukocytosis, Hepatomegaly, Lymphadenopathy, Abnormal lymphocyte morphology, Anemia, Splenomegaly... ORPHA:39041
Rift Valley Fever
Hepatitis, Anemia, Increased circulating IgG level, Increased circulating IgM level, Thrombocytop... ORPHA:319251
Cold Agglutinin Disease
Lymphadenopathy, Hepatomegaly, Hemolytic anemia, Splenomegaly ORPHA:56425
Immunodeficiency 82 With Systemic Inflammation
B lymphocytopenia, Decreased proportion of naive T cells, Decreased circulating total IgA, Elevat... OMIM:619381
Pfapa Syndrome
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:42642
Crimean-Congo Hemorrhagic Fever
Leukocytosis, Hepatomegaly, Leukopenia, Lymphadenopathy, Elevated circulating creatine kinase con... ORPHA:99827
Netherton Syndrome
Increased circulating IgE level, Decreased circulating IgG level, Hypereosinophilia OMIM:256500
Hemochromatosis, Type 3
Increased serum iron, Neutropenia, Anemia, Elevated transferrin saturation, Arthritis, Increased ... OMIM:604250
Felty Syndrome
Hepatomegaly, Neutropenia, Lymphadenopathy, Abnormal lymphocyte morphology, Anemia, Bone marrow h... ORPHA:47612
Dyskeratosis Congenita, Autosomal Recessive 5
Decreased circulating antibody level, Bone marrow hypocellularity, Leukopenia OMIM:615190
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Lymphadenopathy, Hepatomegaly, Elevated circulating creatine kinase concentration OMIM:615895
Immunodeficiency 10
Lymphadenopathy, Thrombocytopenia, Autoimmune hemolytic anemia OMIM:612783
Protoporphyria, Erythropoietic, 1
Hemolytic anemia, Hypertriglyceridemia OMIM:177000
Good Syndrome
Mediastinal lymphadenopathy, Decreased circulating antibody level, Anemia, Thymoma, Aplasia/Hypop... ORPHA:169105
Thymic Aplasia
Decreased proportion of naive T cells, Hypocalcemic tetany, Coombs-positive hemolytic anemia, Lym... ORPHA:83471
Classic Hodgkin Lymphoma
Lymphadenopathy, Hepatomegaly, Bone marrow hypocellularity, Splenomegaly ORPHA:391
Carcinoma Of Esophagus
Lymphadenopathy ORPHA:70482
Immunodeficiency 21
Abnormal natural killer cell morphology, Neutropenia, Lymphopenia, Myeloid leukemia, Monocytopeni... OMIM:614172
Systemic Mastocytosis With Associated Hematologic Neoplasm
Leukocytosis, Chronic lymphatic leukemia, Hepatomegaly, Normocytic anemia, Lymphadenopathy, Normo... ORPHA:98849
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
B lymphocytopenia, Hypochromic microcytic anemia, Schistocytosis, Decreased circulating antibody ... OMIM:616084
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Hepatomegaly, Decreased circulating IgA level, Hepatitis, Splenomegaly, Hypersplenism, Pancytopen... OMIM:613385
Vici Syndrome
Cutaneous anergy, Decreased circulating IgG level, Decreased proportion of CD4-positive helper T ... OMIM:242840
Obesity Due To Melanocortin 4 Receptor Deficiency
Hypertriglyceridemia ORPHA:71529
Apolipoprotein C-Ii Deficiency
Splenomegaly, Hypercholesterolemia, Hypertriglyceridemia, Decreased circulating apolipoprotein C-... OMIM:207750
Yellow Fever
Leukocytosis, Increased circulating interleukin 6, Elevated circulating creatine kinase concentra... ORPHA:99829
Chediak-Higashi Syndrome
Hepatomegaly, Neutropenia, Leukopenia, Lymphadenopathy, Abnormal dense granules, Giant neutrophil... OMIM:214500
Fish-Eye Disease
Lymphadenopathy, Hepatomegaly, Decreased HDL cholesterol concentration, Splenomegaly ORPHA:79292
Immunoglobulin A Deficiency 1
Decreased circulating IgA level OMIM:137100
Ghosal Hematodiaphyseal Dysplasia
Leukopenia, Hyperostosis cranialis interna, Refractory anemia, Myelofibrosis, Bone marrow hypocel... OMIM:231095
Smith-Kingsmore Syndrome
Decreased circulating IgA level, Thrombocytopenia OMIM:616638
Primary Sclerosing Cholangitis
Hepatomegaly, Neoplasm of the gallbladder, Cholangiocarcinoma, Hepatic fibrosis, Hepatocellular c... ORPHA:171
Refractory Celiac Disease
Macrocytic anemia, Hypoproteinemia, Normocytic anemia, Iron deficiency anemia, Hypophosphatemia, ... ORPHA:398063
Mogs-Cdg
Hepatomegaly, Decreased circulating IgA level, Decreased circulating IgG level, Decreased circula... ORPHA:79330
Hepatic Lipase Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration OMIM:614025
Secondary Intestinal Lymphangiectasia
Decreased prealbumin level, Decreased circulating IgA level, Reduced circulating transferrin conc... ORPHA:90363
Chronic Beryllium Disease
Mediastinal lymphadenopathy, Abnormal proportion of CD4-positive T cells ORPHA:133
Igg4-Related Ophthalmic Disease
Cholangitis, Lymphadenopathy, Retroperitoneal fibrosis, Increased circulating IgG4 level, Pancrea... ORPHA:449563
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome
Lymphadenopathy, Increased circulating antibody level ORPHA:69126
Leukoencephalopathy, Arthritis, Colitis, And Hypogammaglobulinema
Decreased circulating IgG level, Neutropenia OMIM:608809
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin
Decreased circulating IgA level OMIM:235500
Acquired Idiopathic Sideroblastic Anemia
Leukocytosis, Thrombocytosis, Neutropenia, Normocytic anemia, Megaloblastic erythroid hyperplasia... ORPHA:75564
Japanese Encephalitis
Neutrophilia, Increased circulating antibody level, Hyponatremia, Increased circulating IgM level ORPHA:79139
Castleman Disease
Increased circulating interleukin 6, Mediastinal lymphadenopathy, Lymphadenopathy, Anemia, Jaundi... ORPHA:160
Roifman Syndrome
Lymphadenopathy, Hepatomegaly, Eosinophilia, Splenomegaly OMIM:616651
Immunoglobulin M, Level Of
Decreased circulating total IgM OMIM:308250
Immunodeficiency 31C
Autoimmune hemolytic anemia, Lymphopenia, Osteopenia OMIM:614162
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Osteoporosis, Hypertriglyceridemia, Flexion contracture OMIM:615381
Bloom Syndrome
Acute lymphoblastic leukemia, Abnormal proportion of CD8-positive T cells, Decreased circulating ... ORPHA:125
Lcat Deficiency
Hemolytic anemia, Decreased circulating apolipoprotein AI concentration, Decreased HDL cholestero... ORPHA:650
Niemann-Pick Disease, Type A
Hepatomegaly, Lymphadenopathy, Bone-marrow foam cells, Splenomegaly, Microcytic anemia, Prolonged... OMIM:257200
Legionnaires Disease
Hyponatremia, Lymphadenopathy, Hepatitis, Bone marrow hypocellularity, Pancreatitis, Splenomegaly... ORPHA:549
Plin1-Related Familial Partial Lipodystrophy
Hypertriglyceridemia ORPHA:280356
Bloom Syndrome
Leukemia, Decreased circulating IgG level, Decreased circulating IgA level, Decreased circulating... OMIM:210900
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Hepatomegaly, Lymphadenopathy, Lymphadenitis, Splenomegaly, Impaired oxidative burst, Rectal absc... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Hepatomegaly, Lymphadenopathy, Lymphadenitis, Splenomegaly, Impaired oxidative burst, Rectal absc... OMIM:233710
Pyoderma Gangrenosum
Myeloid leukemia, Increased circulating antibody level ORPHA:48104
Nephrotic Syndrome, Type 14
Lymphopenia, Hypertriglyceridemia, Hypoalbuminemia OMIM:617575
Acute Promyelocytic Leukemia
Leukocytosis, Neutropenia, Leukopenia, Lymphadenopathy, Anemia, Pancytopenia, Thrombocytopenia ORPHA:520
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Leukocytosis, Macrocytic anemia, Abnormally low T cell receptor excision circle level, Reduction ... OMIM:608203
Alveolar Echinococcosis
Cholangitis, Biliary cirrhosis, Pancreatic cysts, Abnormality of mesentery morphology, Hepatic cy... ORPHA:284
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Leukocytosis, Thrombocytosis, Hepatomegaly, Elevated circulating C-reactive protein concentration... OMIM:615688
Alg12-Cdg
B lymphocytopenia, Hyponatremia, Partial absence of specific antibody response to Haemophilus inf... ORPHA:79324
Systemic-Onset Juvenile Idiopathic Arthritis
Lymphadenopathy, Hepatomegaly, Elevated circulating C-reactive protein concentration, Splenomegaly ORPHA:85414
Granulomatous Disease, Chronic, X-Linked
Hepatomegaly, Lymphadenopathy, Lymphadenitis, Splenomegaly, Impaired oxidative burst, Rectal absc... OMIM:306400
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Hepatomegaly, Lymphadenopathy, Lymphadenitis, Splenomegaly, Impaired oxidative burst, Rectal absc... OMIM:233690
Congenital Disorder Of Glycosylation, Type Ia
Thrombocytosis, Hepatomegaly, Hepatic fibrosis, Decreased circulating IgA level, Hypocholesterole... OMIM:212065
Okur-Chung Neurodevelopmental Syndrome
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating antibody ... OMIM:617062
Lipodystrophy, Familial Partial, Type 7
Hypercholesterolemia, Hypertriglyceridemia OMIM:606721
Desmoplastic Small Round Cell Tumor
Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Anemia, Abnormality of the peritoneum... ORPHA:83469
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Neutropenia, Increased mean corpuscular volume, Anemia, Bone marrow hypocellularity, Acute myeloi... OMIM:619041
Lipodystrophy, Congenital Generalized, Type 4
Elevated circulating creatine kinase concentration, Osteoporosis, Splenomegaly, Osteopenia, Hyper... OMIM:613327
Lig4 Syndrome
Leukocytosis, Hepatomegaly, Acute leukemia, Lymphadenopathy, Pancytopenia ORPHA:99812
Greenberg Dysplasia
Hepatomegaly, Hepatic calcification, Bone marrow hypocellularity, Pancreatic islet-cell hyperplas... OMIM:215140
Insulin Autoimmune Syndrome
Increased circulating antibody level ORPHA:411593
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypergalactosemia, Hyperammonemia, Hyperthreoninemia, Hepatosplenomegaly, Hypermethioninemia, Dec... ORPHA:247598
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency
Hypertriglyceridemia, Increased HDL cholesterol concentration ORPHA:140905
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Decreased prealbumin level, Neutropenia, Neutropenia in presence of anti-neutropil antibodies, Ir... ORPHA:37042
Felty Syndrome
Rheumatoid arthritis, Neutropenia, Splenomegaly OMIM:134750
Lassa Fever
Increased circulating IgM level, Jaundice ORPHA:99824
Pneumocystosis
Abnormal neutrophil count, Increased circulating antibody level ORPHA:723
Chédiak-Higashi Syndrome
Hyponatremia, Hypoproteinemia, Abnormal natural killer cell morphology, Neutropenia, Thrombocytop... ORPHA:167
Hyperlipoproteinemia, Type I
Hyperlipidemia, Lactescent serum, Splenomegaly, Hypercholesterolemia, Hepatosplenomegaly, Increas... OMIM:238600
H Syndrome
Lymphadenopathy, Hepatosplenomegaly, Microcytic anemia, Hypertriglyceridemia, Camptodactyly, Recu... ORPHA:168569
Deafness, Autosomal Dominant 34, With Or Without Inflammation
Lymphadenopathy OMIM:617772
Q Fever
Hepatomegaly, Cryoglobulinemia, Lymphadenopathy, Hepatitis, Anemia, Splenomegaly, Abnormality of ... ORPHA:781
Pediatric Systemic Lupus Erythematosus
Leukopenia, Microangiopathic hemolytic anemia, Lymphadenopathy, Decreased serum complement C4, Ly... ORPHA:93552
Ataxia With Vitamin E Deficiency
Increased LDL cholesterol concentration, Xanthelasma, Hypercholesterolemia, Hypertriglyceridemia OMIM:277460
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Elevated circulating creatine kinase concentration, Osteoporosis, Anemia, Splenomegaly, Hyperchol... ORPHA:79240
Obesity Due To Congenital Leptin Deficiency
Decreased proportion of CD4-positive helper T cells, Hypertriglyceridemia, Decreased T cell activ... ORPHA:66628
Focal Segmental Glomerulosclerosis 1
Anemia, Hyperlipidemia, Hypoalbuminemia OMIM:603278
Granulomatous Slack Skin
Hypercalcemia, Abnormality of the lymph nodes ORPHA:33111
Congenital Generalized Lipodystrophy
Hypercholesterolemia, Bone cyst, Hypertriglyceridemia, Increased C-peptide level ORPHA:528
Poems Syndrome
Polycythemia, Thrombocytosis, Increased circulating antibody level, Lymphadenopathy ORPHA:2905
Postinfectious Vasculitis
Cryoglobulinemia, Increased circulating IgA level, Elevated haptoglobin level, Increased circulat... ORPHA:48435
Lipodystrophy, Familial Partial, Type 1
Hypertriglyceridemia OMIM:608600
Palmoplantar Keratoderma, Epidermolytic
Increased circulating IgE level OMIM:144200
Xp21 Deletion Syndrome
Elevated circulating creatine kinase concentration, Osteoporosis, Reduced bone mineral density, H... ORPHA:261476
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Elevated circulating creatine kinase concentration, Osteoporosis, Anemia, Splenomegaly, Hyperchol... ORPHA:264580
Obesity Due To Leptin Receptor Gene Deficiency
Decreased proportion of CD4-positive helper T cells, Hypertriglyceridemia, Decreased T cell activ... ORPHA:179494
Proteasome-Associated Autoinflammatory Syndrome 4
Lymphadenopathy, Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly OMIM:619183
Lysinuric Protein Intolerance
Hyperglycinemia, Pathologic fracture, Hyperammonemia, Increased circulating ferritin concentratio... ORPHA:470
Immunodeficiency 35
Increased circulating IgE level OMIM:611521
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Increased LDL cholesterol concentration, Elevated circulating creatine kinase concentration, Achi... ORPHA:98855
Immunodeficiency 22
Decreased proportion of CD4-positive helper T cells OMIM:615758
Glycogen Storage Disease Ixc
Hypertriglyceridemia, Splenomegaly OMIM:613027
Inflammatory Pseudotumor Of The Liver
Abnormal liver sonography, Neoplasm of the liver, Cirrhosis, Increased hepatitis B virus antibody... ORPHA:90003
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis
Abscess, Periostitis, Osteomyelitis, Fused cervical vertebrae, Osteopenia, Splenomegaly, Neutroph... OMIM:612852
Abdominal Obesity-Metabolic Syndrome 4
Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri... OMIM:618620
Deafness, Neural, With Atypical Atopic Dermatitis
Increased circulating IgE level OMIM:221700
Drug Reaction With Eosinophilia And Systemic Symptoms
Lymphadenopathy, Eosinophilia, Lymphocytosis, Hepatitis ORPHA:139402
Immunoneurologic Disorder, X-Linked
Decreased circulating IgG2 level OMIM:300076
Cholestasis-Lymphedema Syndrome
Abnormality of the lymphatic system, Splenomegaly, Hyperlipidemia, Reduced bone mineral density ORPHA:1414
Severe Neurodegenerative Syndrome With Lipodystrophy
Hypertriglyceridemia ORPHA:363400
Kikuchi-Fujimoto Disease
Hepatomegaly, Neutropenia, Leukopenia, Lymphadenopathy, Anemia, Abnormality of the lymph nodes, S... ORPHA:50918
Ige Responsiveness, Atopic
Increased circulating IgE level OMIM:147050
Smith-Magenis Syndrome
Hypercholesterolemia, Hypertriglyceridemia OMIM:182290
Autosomal Dominant Severe Congenital Neutropenia
Acute lymphoblastic leukemia, Neutropenia, Monocytosis, Leukemia, Osteopenia, Acute myeloid leuke... ORPHA:486
Combined Immunodeficiency Due To Crac Channel Dysfunction
Hepatomegaly, Lymphadenopathy, Splenomegaly, Thrombocytopenia, Hemolytic anemia ORPHA:169090
Tangier Disease
Orange discolored tonsils, Hypocholesterolemia, Anemia, Hepatosplenomegaly, Chronic noninfectious... ORPHA:31150
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Intestinal lymphangiectasia, Hypoproteinemia, Lymphopenia OMIM:207731
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Cholangitis, Decreased specific pneumococcal antibody level, Cholecystitis, Decreased circulating... ORPHA:183675
X-Linked Emery-Dreifuss Muscular Dystrophy
Increased LDL cholesterol concentration, Elevated circulating creatine kinase concentration, Achi... ORPHA:98863
Emery-Dreifuss Muscular Dystrophy
Increased LDL cholesterol concentration, Elevated circulating creatine kinase concentration, Achi... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Increased LDL cholesterol concentration, Elevated circulating creatine kinase concentration, Achi... ORPHA:98853
Mandibuloacral Dysplasia
Osteolytic defects of the distal phalanges of the hand, Acroosteolysis of distal phalanges (feet)... ORPHA:2457
Interstitial Lung Disease 2
Cirrhosis, Increased circulating antibody level OMIM:178500
Chronic Visceral Acid Sphingomyelinase Deficiency
Decreased HDL cholesterol concentration, Hyperlipidemia, Increased LDL cholesterol concentration,... ORPHA:77293
X-Linked Immunoneurologic Disorder
Decreased circulating IgG2 level ORPHA:2571
Riddle Syndrome
Decreased circulating IgG level OMIM:611943
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia
Chronic noninfectious lymphadenopathy, Abnormality of the lymph nodes ORPHA:97290
Familial Papillary Or Follicular Thyroid Carcinoma
Chronic noninfectious lymphadenopathy, Abnormality of the lymph nodes ORPHA:319487
Celiac Disease, Susceptibility To, 1
Thrombocytosis, Macrocytic anemia, Iron deficiency anemia, Decreased circulating IgA level, Hypoc... OMIM:212750
Primary Sjögren Syndrome
Chronic active hepatitis, Normocytic anemia, Leukopenia, Cryoglobulinemia, Lymphadenopathy, Chron... ORPHA:289390
Lipodystrophy, Familial Partial, Type 3
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hyperuricemia OMIM:604367
Fanconi-Bickel Syndrome
Hypophosphatemia, Osteopenia, Hypertriglyceridemia, Rickets ORPHA:2088
Cholestasis-Lymphedema Syndrome
Conjugated hyperbilirubinemia, Hyperlipidemia, Splenomegaly OMIM:214900
Fanconi Anemia, Complementation Group V
Neutropenia, Anemia, Bone marrow hypocellularity, Elevated alpha-fetoprotein, Thrombocytopenia OMIM:617243
Aspergillosis
Increased circulating IgE level, Eosinophilia, Hepatitis, Neutropenia ORPHA:1163
Hyperlipidemia, Familial Combined, 3
Hyperlipidemia, Increased LDL cholesterol concentration, Increased VLDL cholesterol concentration... OMIM:144250
Citrullinemia, Type Ii, Adult-Onset
Hyperargininemia, Elevated plasma citrulline, Hypertriglyceridemia, Hyperammonemia OMIM:603471
Gaucher Disease Type 3
Hepatomegaly, Anemia, Splenomegaly, Increased circulating antibody level, Pancytopenia, Thrombocy... ORPHA:77261
Agammaglobulinemia, X-Linked
Enteroviral hepatitis, Agammaglobulinemia, Lymph node hypoplasia OMIM:300755
Citrullinemia Type Ii
Hypoproteinemia, Decreased HDL cholesterol concentration, Hyperlipidemia, Hypercholesterolemia, A... ORPHA:247585
Familial Partial Lipodystrophy, Dunnigan Type
Hypertriglyceridemia, Splenomegaly ORPHA:2348
Cutaneous Neuroendocrine Carcinoma
Lymphoid leukemia, Chronic noninfectious lymphadenopathy ORPHA:79140
Xq28 (MECP2) duplication
Decreased circulating IgA level DECIPHER:45
Tarp Syndrome
Extramedullary hematopoiesis ORPHA:2886
Pparg-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Hyperuricemia, Splenomegaly ORPHA:79083
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Osteoporosis, Hyperlipidemia, Osteopenia ORPHA:369
Immunodeficiency, Common Variable, 10
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM OMIM:615577
Akt2-Related Familial Partial Lipodystrophy