Gene Summary

Name:
protein kinase C, eta
Synonyms:
Pkch

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 grip strength Prkchtm1b(EUCOMM)Hmgu HOM Early adult 6.08×10-05

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Viewing: all phenotypes

lacZ Expression

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

Anatomy Images Zygosity Mutant Expr
Brain  Section images heterozygote 100% (2 of 2)
Epididymis  Section images heterozygote 50% (1 of 2)
Esophagus  Section images heterozygote 100% (2 of 2)
Eye  Section images heterozygote 100% (2 of 2)
Kidney  Section images heterozygote 100% (2 of 2)
Lung  Section images heterozygote 100% (2 of 2)
Pituitary gland  Section images heterozygote 100% (2 of 2)
Skin  Section images heterozygote 100% (2 of 2)
Stomach  Section images heterozygote 100% (2 of 2)
Testis  Section images heterozygote 50% (1 of 2)
Thalamus  Section images heterozygote 100% (2 of 2)
Thymus  Section images heterozygote 100% (2 of 2)
Thyroid gland  Section images heterozygote Ambiguous
Urinary bladder  Section images heterozygote 100% (2 of 2)
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Aorta N/A heterozygote 0.0% (0 of 2)
Brainstem N/A heterozygote 0.0% (0 of 2)
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 0.0% (0 of 2)
Cerebellum N/A heterozygote 0.0% (0 of 2)
Cerebral cortex N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote 0.0% (0 of 2)
Hippocampus N/A heterozygote 0.0% (0 of 2)
Hypothalamus N/A heterozygote 0.0% (0 of 2)
Large intestine N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote Not available
Lymph node N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Midbrain N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote 0.0% (0 of 2)
Ovary N/A heterozygote 0.0% (0 of 2)
Oviduct N/A heterozygote 0.0% (0 of 2)
Pancreas N/A heterozygote 0.0% (0 of 2)
Peripheral nervous system N/A heterozygote 0.0% (0 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Prostate gland N/A heterozygote Not available
Skeletal muscle N/A heterozygote 0.0% (0 of 2)
Small intestine N/A heterozygote 0.0% (0 of 2)
Spinal cord N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Striatum N/A heterozygote 0.0% (0 of 2)
Submandibular gland N/A heterozygote 0.0% (0 of 2)
Trachea N/A heterozygote 0.0% (0 of 2)
Uterus N/A heterozygote 0.0% (0 of 2)
Vascular system N/A heterozygote 0.0% (0 of 2)
Vesicular gland N/A heterozygote Not available
White adipose tissue N/A heterozygote 0.0% (0 of 2)

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

Anatomy Images Zygosity Mutant Expr
Embryo N/A heterozygote 100% (2 of 2)
Embryo N/A homozygote Ambiguous
Brain N/A heterozygote 100% (2 of 2)
Brain N/A homozygote Ambiguous
Dorsal root ganglion N/A heterozygote 100% (2 of 2)
Dorsal root ganglion N/A homozygote Ambiguous
Ear N/A heterozygote 0.0% (0 of 2)
Ear N/A homozygote Ambiguous
Eye N/A heterozygote 0.0% (0 of 2)
Eye N/A homozygote Ambiguous
Footplate N/A heterozygote 100% (2 of 2)
Footplate N/A homozygote Ambiguous
Forebrain N/A heterozygote 100% (2 of 2)
Forebrain N/A homozygote Ambiguous
Forelimb N/A heterozygote 100% (2 of 2)
Forelimb N/A homozygote Ambiguous
Fronto-nasal process N/A heterozygote Ambiguous
Fronto-nasal process N/A homozygote Ambiguous
Handplate N/A heterozygote 100% (2 of 2)
Handplate N/A homozygote Ambiguous
Head N/A heterozygote 100% (2 of 2)
Head N/A homozygote Ambiguous
Heart N/A heterozygote 100% (2 of 2)
Heart N/A homozygote Ambiguous
Hindbrain N/A heterozygote 100% (2 of 2)
Hindbrain N/A homozygote Ambiguous
Hindlimb N/A heterozygote 100% (2 of 2)
Hindlimb N/A homozygote Ambiguous
Liver N/A heterozygote 0.0% (0 of 2)
Liver N/A homozygote Ambiguous
Lung N/A heterozygote Ambiguous
Lung N/A homozygote Ambiguous
Mandibular process N/A heterozygote 100% (2 of 2)
Mandibular process N/A homozygote Ambiguous
Maxillary process N/A heterozygote 100% (2 of 2)
Maxillary process N/A homozygote Ambiguous
Midbrain N/A heterozygote 100% (2 of 2)
Midbrain N/A homozygote Ambiguous
Nose N/A heterozygote 100% (2 of 2)
Nose N/A homozygote Ambiguous
Oral cavity N/A heterozygote Ambiguous
Oral cavity N/A homozygote Ambiguous
Skin N/A heterozygote Ambiguous
Skin N/A homozygote Ambiguous
Spinal cord N/A heterozygote 0.0% (0 of 2)
Spinal cord N/A homozygote Ambiguous
Tail somite N/A heterozygote Ambiguous
Tail somite N/A homozygote Ambiguous
Tail N/A heterozygote 100% (2 of 2)
Tail N/A homozygote Ambiguous

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

Anatomy Background staining in controls (WT)
adrenal gland 0.7% (4 of 573)
aorta 0.18% (1 of 571)
brain 0.53% (3 of 570)
brainstem 0.35% (2 of 564)
brown adipose tissue 0.0%
cartilage tissue 0.18% (1 of 569)
cerebellum 0.53% (3 of 565)
cerebral cortex 0.35% (2 of 565)
epididymis 13.08% (17 of 130)
esophagus 1.8% (7 of 389)
eye 0.0%
heart 0.35% (2 of 566)
hippocampus 0.53% (3 of 571)
hypothalamus 0.36% (2 of 560)
kidney 3.72% (21 of 565)
large intestine 1.78% (10 of 561)
liver 0.0%
lower urinary tract 0.0%
lung 0.35% (2 of 577)
lymph node 0.18% (1 of 566)
mammary gland 0.0%
midbrain 0.0%
olfactory lobe 0.18% (1 of 553)
ovary 0.18% (1 of 566)
oviduct 0.0%
pancreas 0.89% (5 of 559)
peripheral nervous system 0.35% (2 of 574)
peyers patch 0.0%
pituitary gland 0.18% (1 of 570)
prostate gland 1.77% (10 of 564)
skeletal muscle 0.0%
skin 0.18% (1 of 563)
small intestine 1.59% (9 of 565)
spinal cord 0.53% (3 of 566)
spleen 0.53% (3 of 566)
stomach 2.12% (12 of 565)
striatum 0.53% (3 of 567)
submandibular gland 1.56% (2 of 128)
testis 1.05% (6 of 572)
thalamus 0.0%
thymus 0.18% (1 of 567)
thyroid gland 2.84% (16 of 563)
trachea 0.53% (3 of 562)
urinary bladder 0.0%
uterus 0.0%
vascular system 0.0%
vesicular gland 0.0%
white adipose tissue 0.0%

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

Background staining occurs in wild type embryos at a measurable rate.

Anatomy Background staining in controls(WT)
brain 1.18% (6 of 508)
dorsal root ganglion 1.67% (1 of 60)
ear 0.2% (1 of 508)
embryo 0.2% (1 of 509)
eye 0.2% (1 of 508)
footplate 0.2% (1 of 508)
forebrain 0.2% (1 of 508)
forelimb 0.2% (1 of 508)
fronto-nasal process 1.64% (1 of 61)
handplate 0.2% (1 of 508)
head 0.98% (5 of 508)
heart 0.2% (1 of 508)
hindbrain 1.18% (6 of 508)
hindlimb 0.2% (1 of 508)
liver 0.2% (1 of 503)
lung 0.2% (1 of 503)
mandibular process 0.2% (1 of 508)
maxillary process 0.2% (1 of 508)
midbrain 0.2% (1 of 508)
nose 1.28% (1 of 78)
oral cavity 0.2% (1 of 503)
skin 0.2% (1 of 508)
spinal cord 1.39% (1 of 72)
tail 0.2% (1 of 508)
tail somite group 0.2% (1 of 508)

Associated Images

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

Embryo LacZ

LacZ images wholemount

12 Images

Adult LacZ

LacZ Images Section

14 Images

Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

5 Images

Human diseases caused by Prkch mutations

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

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

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Stroke, Ischemic
OMIM:601367

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Hypoplasia of the thymus, Agammaglobulinemia, Lymphopenia OMIM:200900
Reticular Dysgenesis
Lack of T cell function, Leukopenia, Impaired T cell function, Hypoplasia of the thymus, Congenit... OMIM:267500
Pulmonary Nodular Lymphoid Hyperplasia
Plasmacytosis, Mediastinal lymphadenopathy, Follicular hyperplasia ORPHA:60026
Immunodeficiency 72 With Autoinflammation
Increased B cell count, Increased proportion of memory T cells, Lymphadenopathy, Increased circul... OMIM:618982
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
B lymphocytopenia, Decreased circulating IgG level, Abnormally low T cell receptor excision circl... OMIM:618987
Immunodeficiency 14A, Autosomal Dominant
Increased proportion of transitional B cells, Decreased proportion of class-switched memory B cel... OMIM:615513
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive
Lymphadenopathy, T lymphocytopenia, Splenomegaly OMIM:608971
Immunodeficiency 18
Decreased proportion of CD3-positive T cells, Defective T cell proliferation, Lymphopenia OMIM:615615
Immunodeficiency 76
B lymphocytopenia, Lymphadenopathy, Splenomegaly, Lymphopenia, T lymphocytopenia OMIM:619164
Immunodeficiency 79
Decreased proportion of CD4-positive T cells OMIM:619238
Immunodeficiency 24
Decreased specific pneumococcal antibody level, Defective T cell proliferation, Decreased circula... OMIM:615897
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
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Absent tonsils, Decreased circulating IgA level, Decreased circulating IgG level, Abnormality of ... OMIM:611926
B-Cell Expansion With Nfkb And T-Cell Anergy
Increased B cell count, Decreased specific antibody response to polysaccharide vaccine, Decreased... OMIM:616452
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
T lymphocytopenia ORPHA:169095
Immunodeficiency 75
Lymphadenopathy, Hepatosplenomegaly, Decreased proportion of class-switched memory B cells, Folli... OMIM:619126
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Hypoplasia of the thymus, Reduced antigen-specific T cell proliferation, Reduced delayed hypersen... OMIM:617241
Lymphoproliferative Syndrome 3
Lymphadenopathy, Decreased circulating antibody level, Reduced natural killer cell count, Hepatos... OMIM:618261
Immunodeficiency 15A
Decreased proportion of memory B cells, Decreased proportion of CD4-positive helper T cells, Decr... OMIM:618204
Severe Combined Immunodeficiency, X-Linked
Impaired lymphocyte transformation with phytohemagglutinin, Agammaglobulinemia, Decreased circula... OMIM:300400
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Absent tonsils, B lymphocytopenia, Lack of T cell function, Increased circulating IgE level, Lymp... ORPHA:277
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Neutropenia, Lymphadenopathy, Increased circulating IgA level, Decreased lymphocyte proliferation... ORPHA:169154
Immunodeficiency 52
Coombs-positive hemolytic anemia, Increased proportion of gamma-delta T cells, Lymphadenopathy, D... OMIM:617514
Immunodeficiency 8
Lymphopenia OMIM:615401
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 40
Lymphopenia OMIM:616433
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
Decreased circulating IgG level, T lymphocytopenia OMIM:242870
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Lymphadenopathy, Splenomegaly, Autoimmune thrombocytopenia, Lymphopenia, Hemolytic anemia, Autoim... ORPHA:444463
Combined Immunodeficiency, X-Linked
Decreased circulating IgG level, Decreased proportion of CD4-positive helper T cells, Decreased p... OMIM:312863
Wiskott-Aldrich Syndrome 2
Thrombocytopenia, Reduced natural killer cell activity, Defective T cell proliferation, Decreased... OMIM:614493
Immunodeficiency 64
Abnormal CD4:CD8 ratio, Mediastinal lymphadenopathy, Defective T cell proliferation, Lymphadenopa... OMIM:618534
Immunodeficiency 84
B lymphocytopenia, Perianal abscess, Splenomegaly OMIM:619437
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased B cell count, Decreased proportion of class-switched memory B cells, Mediastinal lympha... OMIM:615559
Caspase 8 Deficiency
Decreased circulating IgA level, Lymphadenopathy, Decreased circulating IgG level, Reduced CD95-i... OMIM:607271
Immunodeficiency 17
Decreased proportion of CD8-positive T cells, Autoimmune hemolytic anemia OMIM:615607
Combined Cellular And Humoral Immune Defects With Granulomas
B lymphocytopenia, Decreased circulating IgG level, T lymphocytopenia OMIM:233650
Autoimmune Lymphoproliferative Syndrome, Type Iia
Increased B cell count, Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory ... OMIM:603909
Omenn Syndrome
B lymphocytopenia, Lymphadenopathy, Hypoplasia of the thymus, Anemia, Splenomegaly, Severe B lymp... OMIM:603554
Mu-Heavy Chain Disease
Abnormal B cell count, Lymphadenopathy, Anemia, Splenomegaly, Increased circulating antibody level ORPHA:100024
Immunodeficiency With Hyper-Igm, Type 3
Neutropenia, Decreased circulating IgA level, Impaired memory B cell generation, Decreased circul... OMIM:606843
Immunodeficiency 19
Lymphopenia OMIM:615617
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
B lymphocytopenia, Impaired lymphocyte transformation with phytohemagglutinin, Hypoplasia of the ... OMIM:619313
Persistent Polyclonal B-Cell Lymphocytosis
Lymphocytosis, Decreased circulating total IgM, Splenomegaly OMIM:606445
Reticuloendotheliosis, X-Linked
Lymphadenopathy, Hepatosplenomegaly, Anemia OMIM:312500
Mantle Cell Lymphoma
Lymphadenopathy, Splenomegaly ORPHA:52416
Ras-Associated Autoimmune Leukoproliferative Disorder
Neutropenia, Monocytosis, Leukemia, Decreased lymphocyte apoptosis, Splenomegaly, Autoimmune thro... OMIM:614470
Combined Immunodeficiency Due To Zap70 Deficiency
Lymphadenopathy, Lymphadenitis, Decreased lymphocyte proliferation in response to mitogen, Absenc... ORPHA:911
Burkitt Lymphoma
Abnormality of the spleen, Decreased proportion of CD4-positive helper T cells, Abnormality of th... ORPHA:543
Kerion Celsi
Lymphadenopathy, Recurrent cutaneous abscess formation ORPHA:499
Immunodeficiency 7
Lymphadenopathy, Hypereosinophilia OMIM:615387
Immunodeficiency, Common Variable, 1
B lymphocytopenia, Decreased proportion of class-switched memory B cells, Neutropenia in presence... OMIM:607594
Hepatic Venoocclusive Disease With Immunodeficiency
Decreased circulating IgG level, Absence of lymph node germinal center OMIM:235550
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Lymphadenopathy, Increased circulating antibody level, Autoimmune hemolytic anemia, Splenomegaly OMIM:618495
Cernunnos-Xlf Deficiency
B lymphocytopenia, Decreased circulating antibody level, Anemia, Lymphopenia, Thrombocytopenia, T... ORPHA:169079
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, B lymphocytopenia, Neutropenia, Lymphadenopathy, Abscess, Splenomegaly, I... OMIM:150550
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
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
B lymphocytopenia, Neutropenia, Leukopenia, Partial absence of specific antibody response to Haem... OMIM:618986
Immunodeficiency 68
B lymphocytopenia, Lymphadenitis, Abscess, T lymphocytopenia, Abnormal natural killer cell count OMIM:612260
Immunodeficiency 42
Hypoplasia of the thymus OMIM:616622
Cd8 Deficiency, Familial
Absence of CD8-positive T cells OMIM:608957
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Fluctuating splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Lymphadenopathy, ... OMIM:619220
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
Abnormally low T cell receptor excision circle level, T lymphocytopenia OMIM:618806
Candidiasis, Familial, 2
Lymphadenopathy, Increased circulating IgE level, Hypereosinophilia OMIM:212050
Kimura Disease
Abnormal salivary gland morphology, Lymphadenopathy, Increased circulating IgE level, Eosinophili... ORPHA:482
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
T lymphocytopenia, Decreased helper T cell proportion OMIM:601705
Squamous Cell Carcinoma Of The Esophagus
Lymphadenopathy ORPHA:99977
Immunodeficiency 32A
Lymphadenopathy OMIM:614893
Autoimmune Lymphoproliferative Syndrome
Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, Follicular hype... OMIM:601859
Lymphoproliferative Syndrome, X-Linked, 1
Neutropenia, Lymphadenopathy, Reduced natural killer cell activity, Decreased circulating antibod... OMIM:308240
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Absent tonsils, Decreased proportion of naive T cells, Lymph node hypoplasia, Decreased circulati... ORPHA:276
Immunodeficiency 50
Decreased circulating antibody level, Neutropenia, Lymphopenia OMIM:300988
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency
Lymphadenopathy ORPHA:319600
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Decreased proportion of class-switched memory B cells, Decreased proportion of marginal zone B ce... OMIM:619375
Lymphoid System Deterioration, Progressive
Abnormal T cell morphology, Decreased circulating IgG level, Lymphopenia, Decreased circulating t... OMIM:247630
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
T lymphocytopenia DECIPHER:16
Combined Immunodeficiency Due To Partial Rag1 Deficiency
B lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, Splenomegaly, T lymphocy... ORPHA:231154
Immunodeficiency 38 With Basal Ganglia Calcification
Lymphadenopathy OMIM:616126
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Lymphadenopathy, Decreased circulating antibody level, Anemia, Abnormal natural killer cell physi... OMIM:613101
Immunodeficiency 55
Lymphadenopathy, Neutropenia OMIM:617827
Agammaglobulinemia 8, Autosomal Dominant
B lymphocytopenia, Agammaglobulinemia OMIM:616941
Lymphangiectasia, Intestinal
Intestinal lymphangiectasia, Decreased circulating IgG level, Lymphopenia OMIM:152800
Immunodeficiency 27A
Thrombocytosis, Leukocytosis, Enlarged mesenteric lymph node, Lymphadenopathy, Anemia, Increased ... OMIM:209950
Schnitzler Syndrome
Leukocytosis, Lymphadenopathy, Anemia, Splenomegaly, Increased circulating IgM level ORPHA:37748
Hemophagocytic Lymphohistiocytosis, Familial, 4
Neutropenia, Lymphadenopathy, Anemia, Splenomegaly, Thrombocytopenia, Hemophagocytosis OMIM:603552
Rosaï-Dorfman Disease
Lymphadenopathy, Dysgammaglobulinemia, Anemia ORPHA:158014
Immunodeficiency With Hyper-Igm, Type 4
Autoimmune thrombocytopenia, Impaired Ig class switch recombination, Absence of lymph node germin... OMIM:608184
Lymphoproliferative Syndrome 1
Leukopenia, Lymphadenopathy, Decreased circulating IgG level, Decreased circulating antibody leve... OMIM:613011
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Abnormal B cell count, Lymphadenitis, Decreased circulating IgA level, Decreased circulating IgG ... ORPHA:331206
Familial Cold Autoinflammatory Syndrome 2
Lymphadenopathy, Leukocytosis, Splenomegaly OMIM:611762
X-Linked Lymphoproliferative Disease
Lymphadenopathy, Decreased circulating antibody level, Splenomegaly, Absent natural killer cells,... ORPHA:2442
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Lymphadenopathy, Decreased circulating IgA level, Decreased circulating IgG level, Decreased circ... OMIM:616100
Mast Cell Sarcoma
Lymphadenopathy, Mastocytosis, Mediastinal lymphadenopathy, Splenomegaly ORPHA:66661
T-Cell Immunodeficiency With Thymic Aplasia
Abnormal T cell morphology, Aplasia of the thymus, Reduced delayed hypersensitivity, Hepatospleno... OMIM:242700
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Plasmacytosis, Increased circulating antibody level, Lymphopenia, Autoimmune hemolytic anemia OMIM:247800
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
B lymphocytopenia, Panhypogammaglobulinemia, T lymphocytopenia OMIM:601457
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Hemolytic anemia, B lymphocytopenia, Lymphadenopathy, Decreased circulating IgA level, Decreased ... OMIM:606367
Immunodeficiency 54
Adrenal insufficiency, Lymphadenopathy, Splenomegaly, Reduced natural killer cell count, Adrenoco... OMIM:609981
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations
Neutropenia, Lymphopenia OMIM:614868
Ataxia-Telangiectasia
Leukemia, Decreased circulating IgA level, Hypoplasia of the thymus, Defective B cell differentia... OMIM:208900
Leukocyte Adhesion Deficiency, Type Iii
Leukocytosis, Anemia, Abnormality of the lymph nodes, Splenomegaly, Hepatosplenomegaly, Extramedu... OMIM:612840
Autoinflammation With Episodic Fever And Lymphadenopathy
Lymphadenopathy, Microcytic anemia, Recurrent tonsillitis, Splenomegaly OMIM:618852
Proteasome-Associated Autoinflammatory Syndrome 2
Lymphadenopathy, Thrombocytopenia, Increased circulating antibody level OMIM:618048
Aicardi-Goutieres Syndrome 2
Lymphocytosis OMIM:610181
Purine Nucleoside Phosphorylase Deficiency
Neutropenia in presence of anti-neutropil antibodies, Lymph node hypoplasia, Impaired T cell func... OMIM:613179
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Decreased mean platelet volume, Thrombocytopenia, Lymphocytosis, Lymphadenopathy OMIM:617718
Classic Mycosis Fungoides
Lymphadenopathy, Abnormal lymphocyte morphology, Splenomegaly ORPHA:2584
Immunodeficiency 13
B lymphocytopenia, Decreased proportion of CD4-positive helper T cells, Lymphopenia, Decreased CD... OMIM:615518
Macrocephaly/Autism Syndrome
Decreased circulating antibody level, Lymphopenia, Splenomegaly OMIM:605309
Alpha-Heavy Chain Disease
Lymphadenopathy, Anemia, Splenomegaly, Dysgammaglobulinemia, Premature ovarian insufficiency ORPHA:100025
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Aplasia of the thymus, Panhypogammaglobulinemia, Absent tonsils, Lymph node hypoplasia OMIM:602450
Leishmaniasis
Leukopenia, Lymphadenopathy, Anemia, Splenomegaly, Abnormal macrophage morphology, Increased circ... ORPHA:507
Aregenerative Anemia
Neutropenia, Abnormal proportion of CD8-positive T cells, Lymphadenopathy, Bone marrow hypocellul... ORPHA:101096
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Neutropenia, Leukopenia, Monocytosis, Hypoplasia of the thymus, Anemia, Erythroid hypoplasia, Spl... OMIM:612541
Immunodeficiency 70
B lymphocytopenia, Decreased circulating total IgA, Decreased circulating total IgG, Decreased ci... OMIM:618969
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Brain abscess, Abnormality of the lymphatic system, Anemia, Abnormality of the lymph nodes, Neutr... ORPHA:54251
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Leukocytosis, Increased proportion of CD4-positive T cells, Lymphadenopathy, Increased circulatin... OMIM:617099
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Lymphadenopathy, Splenomegaly ORPHA:86893
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
Immunodeficiency 57 With Autoinflammation
B lymphocytopenia, Decreased circulating antibody level, Reduced natural killer cell count, Peria... OMIM:618108
Cinca Syndrome
Leukocytosis, Lymphadenopathy, Anemia, Hepatosplenomegaly, Eosinophilia OMIM:607115
Immunodeficiency 36
Chronic lymphatic leukemia, Decreased circulating antibody level, Lymphopenia, Splenomegaly OMIM:616005
Lymphoproliferative Syndrome 2
Lymphadenopathy, Decreased circulating antibody level, Decreased lymphocyte proliferation in resp... OMIM:615122
Immunodeficiency 85 And Autoimmunity
Decreased circulating IgA level, Decreased circulating IgG level, Reduced natural killer cell cou... OMIM:619510
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
B lymphocytopenia, Decreased circulating IgA level, Reduced red cell adenosine deaminase level, S... OMIM:102700
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Intestinal lymphangiectasia, Lymphopenia OMIM:207731
Immunodeficiency, Common Variable, 13
Pancytopenia, B lymphocytopenia, Acute lymphoblastic leukemia, Decreased circulating antibody level OMIM:616873
Selective Igm Deficiency
Thyroid carcinoma, Decreased specific antibody response to vaccination, Neutropenia in presence o... ORPHA:331235
Immunodeficiency 14B, Autosomal Recessive
Thrombocytosis, Leukocytosis, B lymphocytopenia, Monocytosis, Decreased circulating IgA level, De... OMIM:619281
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
B lymphocytopenia, Impaired lymphocyte transformation with phytohemagglutinin, Lack of T cell fun... ORPHA:35078
Autoimmune Lymphoproliferative Syndrome
Thyroid carcinoma, Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cel... ORPHA:3261
Tularemia
Brain abscess, Leukocytosis, Mediastinal lymphadenopathy, Lymphadenopathy, Anemia, Abnormal nasop... ORPHA:3392
Transcobalamin Deficiency
Neutropenia, Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulat... ORPHA:859
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Lymphadenopathy, Lymphadenitis, Abscess, Splenomegaly, Perianal abscess, Hepatosplenomegaly, Impa... OMIM:618935
Indolent Systemic Mastocytosis
Lymphadenopathy, Abnormal mast cell morphology, Splenomegaly, Increased proportion of CD25+ mast ... ORPHA:98848
Acute Monoblastic/Monocytic Leukemia
Leukocytosis, Central hypothyroidism, Anemia, Hypochromic anemia, Lymphocytosis, Acute monocytic ... ORPHA:514
Immunodeficiency 25
Complete or near-complete absence of specific antibody response to tetanus vaccine, Increased cir... OMIM:610163
Cyclic Neutropenia
Lymphadenopathy, Perianal abscess, Lymphopenia, Cyclic neutropenia, Recurrent tonsillitis, Cervic... ORPHA:2686
Boutonneuse Fever
Leukopenia, Lymphadenopathy, Increased circulating IgG level, Increased circulating IgM level, Ce... ORPHA:83313
Sézary Syndrome
Lymphadenopathy, Abnormal immunoglobulin level, Abnormal lymphocyte morphology, Splenomegaly ORPHA:3162
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Decreased circulating total IgA, Decreased circulating IgG level, Decreased lymphocyte proliferat... ORPHA:169160
Immunodeficiency, Common Variable, 2
Impaired T cell function, Lymphadenopathy, Decreased circulating IgA level, Decreased circulating... OMIM:240500
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Neutropenia, Leukopenia, Anemia, Splenomegaly, Increased circulating antibody level, Extramedulla... OMIM:615285
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Eosinophilia, Lymphopenia ORPHA:2582
Neutropenia, Severe Congenital, 2, Autosomal Dominant
B lymphocytopenia, Neutropenia, Monocytosis OMIM:613107
Combined Immunodeficiency Due To Dock8 Deficiency
B lymphocytopenia, T lymphocytopenia, Increased circulating IgE level ORPHA:217390
Epidermodysplasia Verruciformis, Susceptibility To, 5
T lymphocytopenia, Lymphopenia OMIM:618309
Ataxia-Telangiectasia
Type II diabetes mellitus, Decreased circulating antibody level, Polycystic ovaries, Abnormal tes... ORPHA:100
Adenocarcinoma Of The Esophagus
Lymphadenopathy ORPHA:99976
Hodgkin Lymphoma
Lymphadenopathy, Splenomegaly ORPHA:98293
Deafness-Lymphedema-Leukemia Syndrome
Leukocytosis, Acute leukemia, Lymphadenopathy, Bone marrow hypocellularity, Splenomegaly, Myelopr... ORPHA:3226
Immunodeficiency With Hyper-Igm, Type 2
Lymphadenopathy, Decreased circulating IgG level, Decreased circulating IgA level, Impaired Ig cl... OMIM:605258
Thymic Aplasia
Decreased proportion of naive T cells, Coombs-positive hemolytic anemia, Lymphadenopathy, Decreas... ORPHA:83471
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Inappropriate antidiuretic hormone secretion, Absence of lymph node germinal center, Anemia, Hepa... ORPHA:79124
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Increased CD4:CD8 ratio, Impaired lymphocyte transformation with phytohemagglutinin, Decreased sp... OMIM:617006
Immunodeficiency With Hyper-Igm, Type 1
Neutropenia, Decreased circulating IgA level, Impaired memory B cell generation, Decreased circul... OMIM:308230
Follicular Lymphoma
Lymphadenopathy, Mediastinal lymphadenopathy, Splenomegaly ORPHA:545
Immunodeficiency With Hyper-Igm, Type 5
Lymphadenopathy, Decreased circulating IgA level, Decreased circulating IgG level, Impaired Ig cl... OMIM:608106
Griscelli Syndrome Type 2
Neutropenia, Lymphadenopathy, Splenomegaly, Pancytopenia, Hemophagocytosis ORPHA:79477
Progressive Multifocal Leukoencephalopathy
Decreased proportion of CD8-positive T cells, Abnormal proportion of CD4-positive T cells ORPHA:217260
Carcinoma Of Esophagus
Lymphadenopathy ORPHA:70482
Immunodeficiency 81
Decreased proportion of class-switched memory B cells, Recurrent cutaneous abscess formation, Abs... OMIM:619374
Gamma-Heavy Chain Disease
Lymphadenopathy, Abnormal lymphocyte morphology, Anemia, Splenomegaly, Autoimmune thrombocytopeni... ORPHA:100026
Omenn Syndrome
Leukocytosis, Lymphadenopathy, Abnormal lymphocyte morphology, Anemia, Splenomegaly, Thyroiditis,... ORPHA:39041
Immunodeficiency, Common Variable, 8, With Autoimmunity
Chronic neutropenia, B lymphocytopenia, Decreased proportion of class-switched memory B cells, De... OMIM:614700
Bone Marrow Failure Syndrome 6
Neutropenia, Increased mean corpuscular volume, Anemia, Bone marrow hypocellularity, Persistence ... OMIM:618849
Chronic Beryllium Disease
Mediastinal lymphadenopathy, Abnormal proportion of CD4-positive T cells ORPHA:133
Diffuse Cutaneous Mastocytosis
Lymphadenopathy, Myeloproliferative disorder, Lymphocytosis, Abnormality of the spleen ORPHA:79456
Proteasome-Associated Autoinflammatory Syndrome 3
Lymphadenopathy, Anemia, Splenomegaly, Increased circulating antibody level, Lymphopenia, Thrombo... OMIM:617591
Primary Myelofibrosis
Leukocytosis, Thrombocytosis, Lymphadenopathy, Anemia, Splenomegaly, Hepatosplenomegaly, Poikiloc... ORPHA:824
Griscelli Syndrome
Leukopenia, Lymphadenopathy, Decreased circulating antibody level, Bone marrow hypocellularity, S... ORPHA:381
Immunodeficiency 21
Abnormal natural killer cell morphology, Neutropenia, Lymphopenia, Myeloid leukemia, Monocytopeni... OMIM:614172
Immunodeficiency 60 And Autoimmunity
Decreased circulating IgA level, Decreased circulating IgG level, Splenomegaly, Decreased basophi... OMIM:618394
Pfapa Syndrome
Lymphadenopathy, Splenomegaly ORPHA:42642
Reticular Dysgenesis
Leukopenia, Decreased circulating antibody level, Anemia, Aplasia/Hypoplasia of the thymus, Abnor... ORPHA:33355
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Hypoplasia of the thymus, Autoimmune hemolytic anemia OMIM:243150
Congenital Toxoplasmosis
Lymphadenopathy, Thrombocytopenia, Anemia ORPHA:858
Immunodeficiency 10
Lymphadenopathy, Thrombocytopenia, Autoimmune hemolytic anemia OMIM:612783
Agammaglobulinemia 1, Autosomal Recessive
Decreased circulating antibody level, B lymphocytopenia, Agammaglobulinemia, Neutropenia OMIM:601495
Immunodeficiency 31C
Lymphopenia, Hypothyroidism, Diabetes mellitus, Delayed puberty, Autoimmune hemolytic anemia OMIM:614162
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive
Decreased proportion of class-switched memory B cells, Decreased circulating IgG level, Increased... OMIM:618944
Acute Panmyelosis With Myelofibrosis
Acute myelomonocytic leukemia, Bone marrow hypocellularity, Splenomegaly, Acute myeloid leukemia,... ORPHA:86843
Macrophage Activation Syndrome
Neutropenia, Lymphadenopathy, Anemia, Splenomegaly, Thrombocytopenia, Hemophagocytosis, Abnormal ... ORPHA:158061
Immunodeficiency 92
Leukocytosis, B lymphocytopenia, Decreased proportion of class-switched memory B cells, Thrombocy... OMIM:619652
Roifman Syndrome
Lymphadenopathy, Hypogonadotropic hypogonadism, Decreased circulating antibody level, Hepatosplen... ORPHA:353298
Aggressive Systemic Mastocytosis
Leukocytosis, Neutropenia, Thrombocytopenia, Leukemia, Lymphadenopathy, Anemia, Abnormal mast cel... ORPHA:98850
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
Common Variable Immunodeficiency
Lymphadenopathy, Decreased circulating antibody level, Splenomegaly, Autoimmune thrombocytopenia,... ORPHA:1572
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Neutropenia, Coombs-positive hemolytic anemia, Lymphadenopathy, Anemia, Increased circulating IgE... OMIM:304790
Rhabdoid Tumor
Lymphadenopathy, Thrombocytopenia, Anemia ORPHA:69077
Cold Agglutinin Disease
Lymphadenopathy, Hemolytic anemia, Splenomegaly ORPHA:56425
Familial Papillary Or Follicular Thyroid Carcinoma
Goiter, Papillary thyroid carcinoma, Nodular goiter, Abnormality of the lymph nodes, Follicular t... ORPHA:319487
Immunodeficiency, Common Variable, 3
Decreased proportion of class-switched memory B cells, Reduced isohemagglutinin level, Decreased ... OMIM:613493
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Thrombocytosis, Macrocytic anemia, Megaloblastic anemia, Decreased circulating antibody level, Ly... OMIM:617780
Sting-Associated Vasculopathy, Infantile-Onset
Thrombocytosis, Leukopenia, Increased circulating IgA level, Paratracheal lymphadenopathy, Anemia... OMIM:615934
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Decreased circulating antibody level, Lymphopenia ORPHA:1116
Immunodeficiency 20
Reduced natural killer cell count, Reduced natural killer cell activity OMIM:615707
Sea-Blue Histiocytosis
Thrombocytopenia, Mediastinal lymphadenopathy, Sea-blue histiocytosis, Splenomegaly ORPHA:158029
Deafness, Autosomal Dominant 34, With Or Without Inflammation
Lymphadenopathy OMIM:617772
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia
Goiter, Papillary thyroid carcinoma, Nodular goiter, Abnormality of the lymph nodes, Chronic noni... ORPHA:97290
Lig4 Syndrome
Leukocytosis, Type II diabetes mellitus, Acute leukemia, Lymphadenopathy, Hypothyroidism, Pancyto... ORPHA:99812
Felty Syndrome
Neutropenia, Lymphadenopathy, Abnormal lymphocyte morphology, Anemia, Bone marrow hypocellularity... ORPHA:47612
Laryngeal Neuroendocrine Tumor
Neuroendocrine neoplasm, Inappropriate antidiuretic hormone secretion, Increased serum serotonin,... ORPHA:100083
Wiskott-Aldrich Syndrome
Absent microvilli on the surface of peripheral blood lymphocytes, Impaired lymphocyte transformat... OMIM:301000
Primary Intestinal Lymphangiectasia
Abnormal lymphatic vessel morphology, Decreased circulating IgA level, Decreased circulating IgG ... ORPHA:90362
Classic Hodgkin Lymphoma
Lymphadenopathy, Bone marrow hypocellularity, Splenomegaly ORPHA:391
Immunodeficiency 91 And Hyperinflammation
Monocytosis, Lymphadenopathy, Neutrophilia, Hepatosplenomegaly, Thrombocytopenia, Hemophagocytosis OMIM:619644
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Lymphadenopathy OMIM:615895
Cinca Syndrome
Leukocytosis, Lymphadenopathy, Anemia, Abnormal granulocyte morphology, Splenomegaly, Abnormality... ORPHA:1451
Adult Idiopathic Neutropenia
Neutropenia, Monocytosis, Increased circulating IgM level, Lymphopenia, Monocytopenia ORPHA:2688
Immunodeficiency 37
Decreased circulating antibody level, Decreased proportion of central memory CD4-positive, alpha-... OMIM:616098
Immunodeficiency, Common Variable, 11
Increased circulating IgE level, Decreased circulating IgG level, Decreased proportion of class-s... OMIM:615767
Heme Oxygenase 1 Deficiency
Thrombocytosis, Asplenia, Coombs-positive hemolytic anemia, Lymphadenopathy, Cervical lymphadenop... OMIM:614034
Autoinflammation With Infantile Enterocolitis
Reduced natural killer cell activity, Anemia, Splenomegaly, Reduced natural killer cell count, Pa... OMIM:616050
Cutaneous Neuroendocrine Carcinoma
Lymphoid leukemia, Chronic noninfectious lymphadenopathy, Carcinoid tumor, Merkel cell skin cancer ORPHA:79140
Acquired Partial Lipodystrophy
Lymphocytosis ORPHA:79087
Pgm3-Cdg
Abnormal CD4:CD8 ratio, Neutropenia, Abnormal proportion of CD8-positive T cells, Leukopenia, Neu... ORPHA:443811
Acute Promyelocytic Leukemia
Leukocytosis, Neutropenia, Leukopenia, Lymphadenopathy, Anemia, Pancytopenia, Thrombocytopenia ORPHA:520
Roifman Syndrome
Lymphadenopathy, Eosinophilia, Splenomegaly OMIM:616651
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Decreased circulating IgA level, Reduced natural killer cell count, T lymphocytopenia, Increased ... OMIM:242860
Fish-Eye Disease
Lymphadenopathy, Splenomegaly ORPHA:79292
Adult-Onset Still Disease
Leukocytosis, Bone marrow hypocellularity, Splenomegaly, Neutrophilia, Generalized lymphadenopathy ORPHA:829
Autoinflammatory Syndrome, Familial, Behcet-Like
Thrombocytopenia, Hemolytic anemia, Lymphopenia OMIM:616744
Hyper-Igd Syndrome
Leukocytosis, Lymphadenopathy, Lymphadenitis, Increased circulating IgA level, Splenomegaly, Neut... OMIM:260920
Drug Reaction With Eosinophilia And Systemic Symptoms
Lymphadenopathy, Eosinophilia, Lymphocytosis, Thyroiditis ORPHA:139402
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
B lymphocytopenia, Hypochromic microcytic anemia, Schistocytosis, Decreased circulating antibody ... OMIM:616084
Hemochromatosis, Type 3
Anemia, Hypogonadotropic hypogonadism, Neutropenia, Lymphopenia OMIM:604250
Syndromic Diarrhea
Thrombocytosis, Increased mean platelet volume, Hypoplasia of the thymus, Splenomegaly, Panhypoga... ORPHA:84064
Legionnaires Disease
Lymphadenopathy, Bone marrow hypocellularity, Lymphopenia, Splenomegaly ORPHA:549
Acitretin/Etretinate Embryopathy
Hypoplasia of the thymus ORPHA:40366
Systemic Mastocytosis With Associated Hematologic Neoplasm
Leukocytosis, Chronic lymphatic leukemia, Normocytic anemia, Lymphadenopathy, Normochromic anemia... ORPHA:98849
Good Syndrome
Mediastinal lymphadenopathy, Decreased circulating antibody level, Anemia, Thymoma, Diabetes mell... ORPHA:169105
Granulomatous Slack Skin
Abnormality of the lymph nodes ORPHA:33111
Noonan Syndrome 12
Thrombocytopenia, Decreased response to growth hormone stimulation test, Lymphopenia OMIM:618624
Desmoplastic Small Round Cell Tumor
Ovarian neoplasm, Mediastinal lymphadenopathy, Lymphadenopathy, Neoplasm of the pancreas, Anemia,... ORPHA:83469
Spondyloenchondrodysplasia With Immune Dysregulation
Neutropenia, Lymphadenopathy, Autoimmune thrombocytopenia, Lymphopenia, Hypothyroidism, T lymphoc... OMIM:607944
Immunodeficiency, Common Variable, 14
Decreased proportion of class-switched memory B cells, Decreased specific antibody response to va... OMIM:617765
Wiskott-Aldrich Syndrome
Neutropenia, Abnormal platelet function, Acute leukemia, Hypoplasia of the thymus, Chronic leukem... ORPHA:906
Obesity Due To Congenital Leptin Deficiency
Insulin-resistant diabetes mellitus, Pituitary hypothyroidism, Hypoplasia of the ovary, Absence o... ORPHA:66628
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Decreased circulating IgG level, Decreased circulating antibody level, Decreased lymphocyte proli... ORPHA:508533
Chediak-Higashi Syndrome
Neutropenia, Leukopenia, Lymphadenopathy, Abnormal dense granules, Giant neutrophil granules, Ane... OMIM:214500
Isolated Anencephaly
Adrenal hypoplasia, Maternal diabetes, Thymus hyperplasia ORPHA:563609
Niemann-Pick Disease, Type A
Lymphadenopathy, Bone-marrow foam cells, Splenomegaly, Microcytic anemia, Sea-blue histiocytosis OMIM:257200
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 1
Mediastinal lymphadenopathy, Bone marrow hypocellularity, Anemia, Myeloid leukemia, Pancytopenia,... OMIM:614742
Hemophagocytic Lymphohistiocytosis, Familial, 2
Leukopenia, Lymphadenopathy, Reduced natural killer cell activity, Anemia, Splenomegaly, Hepatosp... OMIM:603553
Proteasome-Associated Autoinflammatory Syndrome 4
Lymphadenopathy, Autoimmune hemolytic anemia, Splenomegaly OMIM:619183
Familial Hemophagocytic Lymphohistiocytosis
Neutropenia, Lymphadenopathy, Reduced natural killer cell activity, Decreased circulating antibod... ORPHA:540
Immunodeficiency 22
Decreased proportion of CD4-positive helper T cells OMIM:615758
Lethal Congenital Contracture Syndrome 10
Hypoplasia of the thymus OMIM:617022
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Lymphadenopathy, Lymphadenitis, Splenomegaly, Impaired oxidative burst, Rectal abscess, Granuloma... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Lymphadenopathy, Lymphadenitis, Splenomegaly, Impaired oxidative burst, Rectal abscess, Granuloma... OMIM:233710
Obesity Due To Leptin Receptor Gene Deficiency
Insulin-resistant diabetes mellitus, Pituitary hypothyroidism, Hypoplasia of the ovary, Absence o... ORPHA:179494
Peroxisome Biogenesis Disorder 2A (Zellweger)
Hypoplasia of the thymus, Cryptorchidism OMIM:214110
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)
Abnormality of the lymph nodes OMIM:136580
Systemic-Onset Juvenile Idiopathic Arthritis
Lymphadenopathy, Splenomegaly ORPHA:85414
Pediatric Systemic Lupus Erythematosus
Leukopenia, Microangiopathic hemolytic anemia, Lymphadenopathy, Lymphopenia, Thrombocytopenia ORPHA:93552
Hemophagocytic Lymphohistiocytosis, Familial, 1
Leukopenia, Lymphadenopathy, Anemia, Splenomegaly, Thrombocytopenia, Hemophagocytosis OMIM:267700
Granulomatous Disease, Chronic, X-Linked
Lymphadenopathy, Lymphadenitis, Splenomegaly, Impaired oxidative burst, Rectal abscess, Granuloma... OMIM:306400
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Lymphadenopathy, Lymphadenitis, Splenomegaly, Impaired oxidative burst, Rectal abscess, Granuloma... OMIM:233690
Mevalonic Aciduria
Fluctuating splenomegaly, Leukocytosis, Normocytic hypoplastic anemia, Lymphadenopathy, Anemia, H... OMIM:610377
Palmoplantar Keratoderma-Xx Sex Reversal-Predisposition To Squamous Cell Carcinoma Syndrome
Palmoplantar keratoderma, Squamous cell carcinoma of the skin ORPHA:85112
Combined Immunodeficiency Due To Crac Channel Dysfunction
Lymphadenopathy, Thrombocytopenia, Hemolytic anemia, Splenomegaly ORPHA:169090
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
B lymphocytopenia, Neutropenia, Leukopenia, Bone marrow hypocellularity, Anemia, Lymphopenia, Ret... ORPHA:508542
Kaposi Sarcoma
Abnormality of the spleen, Generalized lymphadenopathy ORPHA:33276
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome
Aplasia of the thymus ORPHA:3004
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Leukocytosis, Thrombocytosis, Leukopenia, Lymphadenopathy, Decreased circulating antibody level, ... OMIM:615688
Porokeratosis
Squamous cell carcinoma of the skin, Hyperkeratosis ORPHA:79358
Kikuchi-Fujimoto Disease
Neutropenia, Leukopenia, Lymphadenopathy, Anemia, Abnormality of the lymph nodes, Splenomegaly, G... ORPHA:50918
Purine Nucleoside Phosphorylase Deficiency
Abnormal T cell morphology, Decreased proportion of CD3-positive T cells, Autoimmune thrombocytop... ORPHA:760
Vici Syndrome
Cutaneous anergy, Decreased circulating IgG level, Decreased proportion of CD4-positive helper T ... OMIM:242840
Whim Syndrome
Neutropenia, Lymphadenitis, Decreased circulating antibody level, Parotitis, Lymphopenia, Abnorma... ORPHA:51636
Mixed Connective Tissue Disease
Mediastinal lymphadenopathy, Leukopenia, Lymphadenopathy, Splenomegaly, Hemolytic anemia ORPHA:809
Epidermodysplasia Verruciformis, Susceptibility To, 2
Verruca plana, Squamous cell carcinoma of the skin OMIM:618231
Immunodeficiency 49
Eosinophilia, Lymphopenia OMIM:617237
Immunodeficiency 82 With Systemic Inflammation
B lymphocytopenia, Decreased proportion of naive T cells, Decreased circulating total IgA, Decrea... OMIM:619381
Pleural Mesothelioma
Lymphadenopathy ORPHA:50251
Igg4-Related Submandibular Gland Disease
Abnormal salivary gland morphology, Lymphadenopathy, Abnormal pancreas morphology, Increased circ... ORPHA:449432
Hemophagocytic Syndrome Associated With An Infection
Neutropenia, Anemia, Splenomegaly, Abnormal T cell subset distribution, Pancytopenia, Thrombocyto... ORPHA:158048
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Decreased serum insulin-like growth factor 1, Abnormal size of pituitary gland, Abnormal lymphocy... ORPHA:293978
Xeroderma Pigmentosum, Complementation Group E
Ectropion, Basal cell carcinoma, Squamous cell carcinoma of the skin, Entropion, Melanoma, Conjun... OMIM:278740
Combined Immunodeficiency-Enteropathy Spectrum
Peritoneal abscess, Hypoplasia of the thymus, Abnormality of the ductus choledochus, Rectal absce... ORPHA:436252
Refractory Celiac Disease
Macrocytic anemia, Normocytic anemia, Iron deficiency anemia, Increased proportion of HLA DR+ T c... ORPHA:398063
Castleman Disease
Mediastinal lymphadenopathy, Lymphadenopathy, Anemia, Generalized lymphadenopathy, Thrombocytopen... ORPHA:160
Scrub Typhus
Lymphadenopathy, Splenomegaly ORPHA:83317
Icf Syndrome
Abnormality of neutrophils, Decreased circulating antibody level, Anemia, Lymphopenia ORPHA:2268
Pseudomyxoma Peritonei
Lymphadenopathy ORPHA:26790
Epidermodysplasia Verruciformis, X-Linked
Verrucae, Squamous cell carcinoma of the skin OMIM:305350
Autosomal Dominant Severe Congenital Neutropenia
Acute lymphoblastic leukemia, Neutropenia, Monocytosis, Leukemia, Acute myeloid leukemia, Lymphop... ORPHA:486
Immunodeficiency 27B
Generalized lymphadenopathy OMIM:615978
American Trypanosomiasis
Lymphadenopathy, Splenomegaly ORPHA:3386
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome
Lymphadenopathy, Increased circulating antibody level, Type I diabetes mellitus ORPHA:69126
Dyskeratosis Congenita, Autosomal Dominant 1
Anemia, Bone marrow hypocellularity, Lymphopenia, Thrombocytopenia, Aplastic anemia OMIM:127550
Mycosis Fungoides
Lymphadenopathy OMIM:254400
Malt Lymphoma
Lymphadenopathy, Anemia, Abnormality of the thyroid gland, Mediastinal lymphadenopathy ORPHA:52417
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Decreased proportion of CD3-positive T cells, Hashimoto thyroiditis, Decreased circulating IgG le... ORPHA:275
Familial Multinodular Goiter
Colorectal polyposis, Ovarian neoplasm, Testicular seminoma, Thyroid carcinoma, Sertoli cell neop... ORPHA:276399
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Lymphopenia, Premature ovarian insufficiency ORPHA:391307
Apc-Related Attenuated Familial Adenomatous Polyposis
Astrocytoma, Adenomatous colonic polyposis, Multiple gastric polyps, Papillary thyroid carcinoma,... ORPHA:247806
Mirage Syndrome
Adrenal insufficiency, Leukopenia, Anemia, Lymphopenia, Hypergonadotropic hypogonadism, Thrombocy... OMIM:617053
Thyroid Lymphoma
Goiter, Lymphadenopathy, Hyperthyroidism, Hypothyroidism, Hashimoto thyroiditis ORPHA:97285
Poems Syndrome
Thrombocytosis, Polycythemia, Lymphadenopathy, Abnormality of the endocrine system, Primary adren... ORPHA:2905
Schimke Immunoosseous Dysplasia
Abnormal T cell morphology, Neutropenia, Abnormal immunoglobulin level, Anemia, Elevated circulat... OMIM:242900
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Neutropenia, Neutropenia in presence of anti-neutropil antibodies, Iron deficiency anemia, Lympha... ORPHA:37042
Nephrotic Syndrome, Type 14
Adrenal insufficiency, Hypogonadism, Lymphopenia, Hypothyroidism, Cryptorchidism OMIM:617575
Waldenström Macroglobulinemia
Normocytic anemia, Leukemia, Lymphadenopathy, Monoclonal immunoglobulin M proteinemia, Splenomega... ORPHA:33226
Xeroderma Pigmentosum, Complementation Group C
Cutaneous melanoma, Ectropion, Basal cell carcinoma, Squamous cell carcinoma of the skin, Entropi... OMIM:278720
Carney Triad
Adrenal overactivity, Adrenocortical adenoma, Mediastinal lymphadenopathy, Lymphadenopathy, Anemi... ORPHA:139411
Combined Immunodeficiency With Faciooculoskeletal Anomalies
B lymphocytopenia, Decreased circulating total IgA, Decreased specific antibody response to vacci... ORPHA:221139
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Leukocytosis, Macrocytic anemia, Abnormally low T cell receptor excision circle level, Reduction ... OMIM:608203
Middle Ear Neuroendocrine Tumor
Neuroendocrine neoplasm, Chronic noninfectious lymphadenopathy, Carcinoid tumor ORPHA:100084
Schimke Immuno-Osseous Dysplasia
Decreased proportion of naive CD8 T cells, Neutropenia, Impaired T cell function, Bone marrow hyp... ORPHA:1830
Thymic Neuroendocrine Tumor
Neuroendocrine neoplasm, Mediastinal lymphadenopathy, Neoplasm of the thymus, Increased circulati... ORPHA:97289
Hereditary Amyloidosis With Primary Renal Involvement
Lymphadenopathy, Anemia, Abnormality of the lymph nodes, Hypogonadism, Abnormal testis morphology... ORPHA:85450
Hermansky-Pudlak Syndrome 2
Neutropenia, Enlarged platelet dense granules, Reduced natural killer cell activity, Absent plate... OMIM:608233
Huriez Syndrome
Congenital palmoplantar hyperkeratosis, Squamous cell carcinoma of the skin OMIM:181600
Multiple Myeloma
Lymphadenopathy, Increased circulating IgA level, Decreased circulating antibody level, Anemia, I... ORPHA:29073
Gardner Syndrome
Astrocytoma, Adenomatous colonic polyposis, Small intestine carcinoid, Brain neoplasm, Papillary ... ORPHA:79665
Familial Pancreatic Carcinoma
Peritoneal abscess, Lymphadenopathy, Pancreatic adenocarcinoma, Hepatosplenomegaly, Ovarian carci... ORPHA:1333
Nijmegen Breakage Syndrome
B lymphocytopenia, Dysgammaglobulinemia, Premature ovarian insufficiency, Thrombocytopenia, T lym... OMIM:251260
Progeria-Short Stature-Pigmented Nevi Syndrome
Insulin-resistant diabetes mellitus, Neoplasm of the pancreas, Decreased serum estradiol, Microcy... ORPHA:2959
Acquired Hypertrichosis Lanuginosa
Lymphadenopathy, Ovarian neoplasm ORPHA:2221
Wiskott-Aldrich Syndrome, Autosomal Dominant
Absent microvilli on the surface of peripheral blood lymphocytes, Iron deficiency anemia, Decreas... OMIM:600903
Hennekam Syndrome
Pulmonary lymphangiectasia, Lymphadenopathy, Lymphangioma, Decreased circulating antibody level, ... ORPHA:2136
Lymphatic Filariasis
Lymphangiectasis, Vaginal hydrocele, Lymphadenopathy, Lymphadenitis, Abnormality of the lymphatic... ORPHA:2035
Ebola Hemorrhagic Fever
Thrombocytopenia, Increased circulating antibody level, Lymphopenia, Leukopenia ORPHA:319218
Chronic Granulomatous Disease
Liver abscess, Mediastinal lymphadenopathy, Abnormality of neutrophils, Splenomegaly ORPHA:379
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
B lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, Abnormality of the endoc... ORPHA:391487
Medullary Thyroid Carcinoma
Lymphadenopathy, Nodular goiter, Medullary thyroid carcinoma, Primary hyperparathyroidism, Elevat... ORPHA:1332
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Lymphadenopathy, Leukocytosis, Orchitis, Splenomegaly ORPHA:32960
Chédiak-Higashi Syndrome
Abnormal natural killer cell morphology, Neutropenia, Thrombocytopenia, Abnormal platelet functio... ORPHA:167
Acute Interstitial Pneumonia
Reduced hematocrit, Lymphadenopathy ORPHA:79126
Fusariosis
Brain abscess, Abnormality of the spleen, Neutropenia, Lung abscess, Lymphopenia, Granuloma ORPHA:228119
H Syndrome
Lymphadenopathy, Hypogonadism, Hepatosplenomegaly, Microcytic anemia, Diabetes mellitus, Decrease... ORPHA:168569
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Eosinophilia, Decreased circulating antibody level, Lymphopenia OMIM:617425
Graft Versus Host Disease
Lymphadenopathy, Hepatosplenomegaly, Hemophagocytosis ORPHA:39812
Anaplastic Thyroid Carcinoma
Lymphadenopathy, Anaplastic thyroid carcinoma, Nodular goiter, Goiter ORPHA:142
Meige Disease
Absence of lymph node germinal center, Lymph node hypoplasia ORPHA:90186
Popov-Chang syndrome
Decreased circulating antibody level, Lymphopenia OMIM:618428
Hypocomplementemic Urticarial Vasculitis
Lymphadenopathy, Splenomegaly ORPHA:36412
Immunodeficiency 87 And Autoimmunity
Abnormal lymphocyte proliferation, Cervical lymphadenopathy, Lymphopenia, Decreased proportion of... OMIM:619573
Nephroblastoma
Lymphadenopathy ORPHA:654
Immunodeficiency 23
Neutropenia, Abscess, Increased circulating IgG level, Increased circulating IgE level, Increased... OMIM:615816
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Agammaglobulinemia, Anemia, Lymphopenia ORPHA:935
Bloom Syndrome
Acute lymphoblastic leukemia, Abnormal proportion of CD8-positive T cells, Decreased circulating ... ORPHA:125
Cartilage-Hair Hypoplasia
Macrocytic anemia, Impaired lymphocyte transformation with phytohemagglutinin, Neutropenia, Conge... OMIM:250250
Histiocytosis-Lymphadenopathy Plus Syndrome
Pancreatic hypoplasia, Lymphadenopathy, Splenomegaly, Hepatosplenomegaly, Type I diabetes mellitu... OMIM:602782
Primary Sjögren Syndrome
Normocytic anemia, Leukopenia, Lymphadenopathy, Normochromic anemia, Decreased circulating antibo... ORPHA:289390
Eec Syndrome
Hypoplasia of the thymus, Decreased response to growth hormone stimulation test, Anterior hypopit... ORPHA:1896
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Decreased response to growth hormone stimulation test, Panhypogammaglobulinemia, Delayed puberty,... OMIM:307200
Tangier Disease
Orange discolored tonsils, Anemia, Hepatosplenomegaly, Chronic noninfectious lymphadenopathy, Thr... ORPHA:31150
Brucellosis
Leukocytosis, Thrombocytosis, Lung abscess, Leukopenia, Lymphadenopathy, Anemia, Increased circul... ORPHA:1304
Nk-Cell Enteropathy
Increased T cell count ORPHA:263665
Q Fever
Lymphadenopathy, Anemia, Splenomegaly, Hepatosplenomegaly, Increased circulating antibody level, ... ORPHA:781
Squamous Cell Carcinoma Of The Anal Canal
Lymphadenopathy ORPHA:424019
Treacher-Collins Syndrome
Thyroid hypoplasia, Hypoplasia of the thymus, Abnormality of the adrenal glands, Cryptorchidism ORPHA:861
Cowden Syndrome 1
Goiter, Decreased circulating antibody level, Thyroid adenoma, Hyperthyroidism, Ovarian carcinoma... OMIM:158350
Proteus-Like Syndrome
Polycystic ovaries, Thymus hyperplasia, Abnormality of the parathyroid gland, Splenomegaly ORPHA:2969
Onychotrichodysplasia And Neutropenia
Chronic neutropenia, Lymphocytosis, Neutropenia OMIM:258360
Pulmonary Non-Tuberculous Mycobacterial Infection
Lymphadenopathy ORPHA:411703
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Lymphadenopathy, Hepatosplenomegaly, Anemia ORPHA:85408
22Q11.2 Deletion Syndrome
Hypoparathyroidism, Impaired T cell function, Hypoplasia of the thymus, Abnormality of the tonsil... ORPHA:567
Agammaglobulinemia, X-Linked
Agammaglobulinemia, Lymph node hypoplasia OMIM:300755
Hyperimmunoglobulinemia D With Periodic Fever
Lymphadenopathy, Increased circulating IgA level ORPHA:343
Hereditary Orotic Aciduria
Impaired T cell function, Anemia, Splenomegaly ORPHA:30
Carcinoid Syndrome
Atypical pulmonary carcinoid tumor, Small intestine carcinoid, Increased serum serotonin, Paragan... ORPHA:100093
Myopathy, Epilepsy, And Progressive Cerebral Atrophy
Thymus hyperplasia OMIM:619036
Igg4-Related Ophthalmic Disease
Abnormality of the anterior pituitary, Lymphadenopathy, Increased circulating IgG4 level, Increas... ORPHA:449563
Melkersson-Rosenthal Syndrome
Lymphadenopathy ORPHA:2483
Igg4-Related Dacryoadenitis And Sialadenitis
Abnormal salivary gland morphology, Lymphadenopathy, Increased circulating IgA level, Nodular goi... ORPHA:79078
Farber Disease
Lymphadenopathy, Thrombocytopenia, Hepatosplenomegaly, Anemia ORPHA:333
Klatskin Tumor
Lymphadenopathy ORPHA:99978
Ileal Neuroendocrine Tumor
Iron deficiency anemia, Increased serum serotonin, Lymphadenopathy, Small intestine carcinoid ORPHA:100078
Jejunal Neuroendocrine Tumor
Iron deficiency anemia, Increased serum serotonin, Lymphadenopathy, Small intestine carcinoid ORPHA:100077
Neuroendocrine Tumor Of Stomach
Atypical pulmonary carcinoid tumor, Iron deficiency anemia, Increased serum serotonin, Paragangli... ORPHA:100075
Marburg Hemorrhagic Fever
Leukopenia, Neutrophilia in presence of infection, Lymphadenopathy, Abnormal lymphocyte morpholog... ORPHA:99826
Monosomy 22
Aplasia of the thymus, Hepatosplenomegaly, Hypochromic microcytic anemia ORPHA:96123
Cushing Syndrome Due To Ectopic Acth Secretion
Adrenal hyperplasia, Atypical pulmonary carcinoid tumor, Neoplasm of the thymus, Small intestine ... ORPHA:99889
Duodenal Neuroendocrine Tumor
Iron deficiency anemia, Lymphadenopathy, Insulinoma, Paraganglioma, Intestinal carcinoid, Glucago... ORPHA:100076
Sarcoidosis
Diabetes insipidus, Leukopenia, Increased T cell count, Lymphadenopathy, Anemia, Abnormality of t... ORPHA:797
Coccidioidomycosis
Abnormality of the spleen, Mediastinal lymphadenopathy, Lymphadenopathy, Abscess, Abnormality of ... ORPHA:228123
Avian Influenza
Thrombocytopenia, Lymphopenia, Leukopenia ORPHA:454836
Sarcoidosis, Susceptibility To, 1
Abnormal salivary gland morphology, Mediastinal lymphadenopathy, Splenomegaly, Generalized lympha... OMIM:181000
Turcot Syndrome With Polyposis
Astrocytoma, Thyroid carcinoma, Adenomatous colonic polyposis, Leukemia, Brain neoplasm, Basal ce... ORPHA:99818
Pilomatrixoma
Pilomatrixoma OMIM:132600
Igg4-Related Kidney Disease
Abnormality of the anterior pituitary, Lymphadenopathy, Lymphadenitis, Increased circulating IgG4... ORPHA:449395
Microsporidiosis
Brain abscess, Abnormality of the spleen, Adrenocortical abnormality, Lymphadenitis, Thyroiditis,... ORPHA:2552
Pancreatoblastoma
Pancreatic calcification, Abnormality of the lymph nodes ORPHA:677
Crimean-Congo Hemorrhagic Fever
Leukocytosis, Adrenal insufficiency, Leukopenia, Inappropriate antidiuretic hormone secretion, Ly... ORPHA:99827
Alg12-Cdg
B lymphocytopenia, Decreased serum insulin-like growth factor 1, Partial absence of specific anti... ORPHA:79324
Idiopathic Hypereosinophilic Syndrome
Leukocytosis, Thrombocytosis, Anemia, Splenomegaly, Myeloproliferative disorder, Hepatosplenomega... ORPHA:3260
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Lymphadenopathy, Anemia, Splenomegaly, Accessory spleen, Polysplenia OMIM:619418
Oculocutaneous Albinism Type 1A
Basal cell carcinoma, Squamous cell carcinoma of the skin, Hyperkeratosis ORPHA:79431
Short Stature, Microcephaly, And Endocrine Dysfunction
Anemia, Lymphopenia, Diabetes mellitus, Hypothyroidism, Cryptorchidism OMIM:616541
Periodic Fever, Familial, Autosomal Dominant
Cervical lymphadenopathy OMIM:142680
Truncus Arteriosus
Adrenocortical abnormality, Hypoplasia of the thymus ORPHA:3384
Kawasaki Disease
Cervical lymphadenopathy, Leukocytosis ORPHA:2331
Secondary Intestinal Lymphangiectasia
Decreased circulating IgA level, Decreased circulating antibody level, Decreased circulating IgG1... ORPHA:90363
Neuroendocrine Tumor Of The Colon
Increased serum serotonin, Carcinoid tumor, Chronic noninfectious lymphadenopathy, Atypical pulmo... ORPHA:100080
Pulmonary Capillary Hemangiomatosis
Lymphadenopathy, Mediastinal lymphadenopathy ORPHA:199241
Bronchial Neuroendocrine Tumor
Increased serum serotonin, Increased circulating cortisol level, Chronic noninfectious lymphadeno... ORPHA:97287
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
B lymphocytopenia, Pancreatic hypoplasia, Cholelithiasis, Biliary hyperplasia, Severe B lymphocyt... ORPHA:83617
Familial Mediterranean Fever
Lymphadenopathy, Orchitis, Splenomegaly ORPHA:342
Autosomal Recessive Malignant Osteopetrosis
Lymphadenopathy, Anemia, Splenomegaly ORPHA:667
Proteasome-Associated Autoinflammatory Syndrome 1
Lymphadenopathy, Increased circulating IgA level, Increased circulating IgG level, Splenomegaly, ... OMIM:256040
Neuroendocrine Tumor Of The Rectum
Increased serum serotonin, Carcinoid tumor, Chronic noninfectious lymphadenopathy, Atypical pulmo... ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Increased serum serotonin, Carcinoid tumor, Chronic noninfectious lymphadenopathy, Atypical pulmo... ORPHA:100082
Lujo Hemorrhagic Fever
Leukocytosis, Lymphopenia, Leukopenia, Thrombocytopenia ORPHA:319213
Oculocutaneous Albinism
Cutaneous melanoma, Basal cell carcinoma, Squamous cell carcinoma of the skin, White eyelashes, W... ORPHA:55
Hermansky-Pudlak Syndrome
Weight loss, Basal cell carcinoma, Long eyelashes, Squamous cell carcinoma of the skin, Hyperkera... ORPHA:79430
Oculocutaneous Albinism Type 2
Cutaneous melanoma, Basal cell carcinoma, Squamous cell carcinoma of the skin, White eyelashes, W... ORPHA:79432
Oculocutaneous Albinism Type 1B
Basal cell carcinoma, Squamous cell carcinoma of the skin, Melanoma ORPHA:79434
Xeroderma Pigmentosum-Cockayne Syndrome Complex
Cachexia, Basal cell carcinoma, Squamous cell carcinoma of the skin, Melanoma ORPHA:220295
Primary Hepatic Neuroendocrine Carcinoma
Increased serum serotonin, Neuroendocrine neoplasm, Chronic noninfectious lymphadenopathy, Carcin... ORPHA:100085
Cherubism
Submandibular lymph node enlargement OMIM:118400
Xeroderma Pigmentosum, Complementation Group B