Gene Summary

Name:
LYN proto-oncogene, Src family tyrosine kinase
Synonyms:
Yamaguchi sarcoma viral (v-yes-1) oncogene homolog,  Hck-2

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
enlarged spleen Lyntm1b(EUCOMM)Hmgu HOM Late adult 0.00
decreased erythrocyte cell number Lyntm1b(EUCOMM)Hmgu HOM Early adult 5.80×10-05
increased red blood cell distribution width Lyntm1b(EUCOMM)Hmgu HOM Early adult 3.15×10-10
increased spleen weight Lyntm1b(EUCOMM)Hmgu HOM Early adult 2.72×10-18
decreased hematocrit Lyntm1b(EUCOMM)Hmgu HOM Early adult 5.14×10-05
increased monocyte cell number Lyntm1b(EUCOMM)Hmgu HOM Early adult 2.50×10-24
decreased leukocyte cell number Lyntm1b(EUCOMM)Hmgu HOM Early adult 1.20×10-13
thrombocytopenia Lyntm1b(EUCOMM)Hmgu HOM Early adult 8.67×10-13
increased blood urea nitrogen level Lyntm1b(EUCOMM)Hmgu HOM Early adult 8.96×10-06
abnormal gait Lyntm1b(EUCOMM)Hmgu HOM Early adult 8.10×10-14
increased neutrophil cell number Lyntm1b(EUCOMM)Hmgu HOM Early adult 6.30×10-22
increased eosinophil cell number Lyntm1b(EUCOMM)Hmgu HOM Early adult 2.46×10-07
decreased hemoglobin content Lyntm1b(EUCOMM)Hmgu HOM Early adult 4.51×10-09
decreased lymphocyte cell number Lyntm1b(EUCOMM)Hmgu HOM Early adult 3.57×10-29
abnormal maxilla morphology Lyntm1b(EUCOMM)Hmgu HOM Early adult 3.09×10-05
small thymus Lyntm1b(EUCOMM)Hmgu HOM Late adult 0.00
increased mean platelet volume Lyntm1b(EUCOMM)Hmgu HOM Early adult 3.71×10-10

Download data as:  TSV  XLS

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

lacZ Expression

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

Anatomy Images Zygosity Mutant Expr
Kidney  Wholemount images heterozygote 100% (2 of 2)
Stomach  Wholemount images heterozygote 50% (1 of 2)
Testis  Wholemount images heterozygote 50% (1 of 2)
Thyroid gland  Wholemount images heterozygote 50% (1 of 2)
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Aorta N/A heterozygote 0.0% (0 of 2)
Bone N/A heterozygote 0.0% (0 of 2)
Brain 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)
Esophagus N/A heterozygote 0.0% (0 of 2)
Eye N/A heterozygote 0.0% (0 of 2)
Gall bladder N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote 0.0% (0 of 2)
Hippocampus N/A heterozygote 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 0.0% (0 of 2)
Lung N/A heterozygote 0.0% (0 of 2)
Lymph node N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote 0.0% (0 of 2)
Oral epithelium 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)
Parathyroid gland N/A heterozygote 0.0% (0 of 2)
Peripheral nervous system N/A heterozygote 0.0% (0 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Pituitary gland N/A heterozygote 0.0% (0 of 2)
Prostate gland N/A heterozygote 0.0% (0 of 2)
Skeletal muscle N/A heterozygote 0.0% (0 of 2)
Skin N/A heterozygote 0.0% (0 of 2)
Small intestine N/A heterozygote 0.0% (0 of 2)
Spinal cord N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Striatum N/A heterozygote 0.0% (0 of 2)
Thymus 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)
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
Brain N/A heterozygote Ambiguous
Brain N/A homozygote Ambiguous
Ear N/A heterozygote Ambiguous
Ear N/A homozygote Ambiguous
Embryo N/A heterozygote Ambiguous
Embryo N/A homozygote Ambiguous
Eye N/A heterozygote Ambiguous
Eye N/A homozygote Ambiguous
Footplate N/A heterozygote Ambiguous
Footplate N/A homozygote Ambiguous
Forebrain N/A heterozygote Ambiguous
Forebrain N/A homozygote Ambiguous
Forelimb N/A heterozygote Ambiguous
Forelimb N/A homozygote Ambiguous
Handplate N/A heterozygote Ambiguous
Handplate N/A homozygote Ambiguous
Head N/A heterozygote Ambiguous
Head N/A homozygote Ambiguous
Heart N/A heterozygote Ambiguous
Heart N/A homozygote Ambiguous
Hindbrain N/A heterozygote Ambiguous
Hindbrain N/A homozygote Ambiguous
Hindlimb N/A heterozygote Ambiguous
Hindlimb N/A homozygote Ambiguous
Liver N/A heterozygote Ambiguous
Liver N/A homozygote Ambiguous
Lung N/A heterozygote Ambiguous
Lung N/A homozygote Ambiguous
Mandibular process N/A heterozygote Ambiguous
Mandibular process N/A homozygote Ambiguous
Maxillary process N/A heterozygote Ambiguous
Maxillary process N/A homozygote Ambiguous
Midbrain N/A heterozygote Ambiguous
Midbrain 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
Tail somite N/A heterozygote Ambiguous
Tail somite N/A homozygote Ambiguous
Tail N/A heterozygote Ambiguous
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 0.71% (4 of 564)
aorta 0.18% (1 of 557)
bone 0.0%
brain 0.87% (5 of 574)
brainstem 0.36% (2 of 556)
brown adipose tissue 0.0%
cartilage tissue 0.18% (1 of 561)
cerebellum 0.54% (3 of 554)
cerebral cortex 0.18% (1 of 560)
esophagus 1.8% (7 of 389)
eye 0.0%
gall bladder 0.0%
heart 0.35% (2 of 564)
hippocampus 0.36% (2 of 558)
hypothalamus 0.35% (2 of 565)
kidney 4.61% (26 of 564)
large intestine 5.58% (31 of 556)
liver 0.0%
lower urinary tract 0.18% (1 of 560)
lung 0.36% (2 of 554)
lymph node 0.18% (1 of 557)
mammary gland 0.0%
olfactory lobe 0.36% (2 of 554)
oral epithelium 0.0%
ovary 0.18% (1 of 566)
oviduct 0.0%
pancreas 0.87% (5 of 574)
parathyroid gland 0.18% (1 of 546)
peripheral nervous system 0.35% (2 of 569)
peyers patch 0.0%
pituitary gland 0.18% (1 of 558)
prostate gland 1.96% (11 of 561)
skeletal muscle 0.0%
skin 0.18% (1 of 563)
small intestine 5.65% (31 of 549)
spinal cord 0.36% (2 of 558)
spleen 0.36% (2 of 550)
stomach 3.74% (21 of 561)
striatum 0.53% (3 of 563)
testis 1.08% (6 of 553)
thymus 0.18% (1 of 553)
thyroid gland 3.18% (18 of 566)
trachea 0.54% (3 of 557)
uterus 0.35% (2 of 566)
vascular system 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 510)
ear 0.2% (1 of 510)
embryo 0.39% (2 of 511)
eye 0.2% (1 of 510)
footplate 0.2% (1 of 510)
forebrain 0.2% (1 of 510)
forelimb 0.2% (1 of 510)
handplate 0.2% (1 of 510)
head 0.98% (5 of 510)
heart 0.2% (1 of 510)
hindbrain 1.18% (6 of 510)
hindlimb 0.2% (1 of 510)
liver 0.2% (1 of 505)
lung 0.2% (1 of 505)
mandibular process 0.2% (1 of 510)
maxillary process 0.2% (1 of 510)
midbrain 0.2% (1 of 510)
oral cavity 0.2% (1 of 505)
skin 0.2% (1 of 510)
tail 0.2% (1 of 510)
tail somite group 0.2% (1 of 510)

Associated Images

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

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Echo

M-Mode Images

44 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

Embryo LacZ

LacZ images wholemount

8 Images

Adult LacZ

LacZ Images Wholemount

4 Images

Auditory Brain Stem Response

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

4 Images

Human diseases caused by Lyn 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 Lyn by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Increased circulating antibody level, Lymphopenia, Glomerulonephritis, Plasmacytosis, Pneumonia, ... OMIM:247800
Pa Polymorphism Of Alpha-2-Globulin
Abnormal immunoglobulin level OMIM:260100
Immunodeficiency 64
Decreased lymphocyte proliferation in response to mitogen, Decreased circulating IgG level, Incre... OMIM:618534
Carbimazole Sensitivity
Drug-induced agranulocytosis OMIM:212060
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Colitis, Nephrotic syndrome, Decreased specific pneumococcal antibody level, Podocyte foot proces... OMIM:617006
Autoimmune Lymphoproliferative Syndrome
Hepatomegaly, Rheumatoid factor positive, Smooth muscle antibody positivity, Splenomegaly, Follic... OMIM:601859
Immunoglobulin M, Level Of
Decreased circulating total IgM OMIM:308250
Immunodeficiency 14A, Autosomal Dominant
Splenomegaly, Decreased specific pneumococcal antibody level, T lymphocytopenia, Decreased propor... OMIM:615513
Lymphoma, Hodgkin, Classic
Impaired lymphocyte transformation with phytohemagglutinin, Polyclonal elevation of IgM OMIM:236000
Lymphoid System Deterioration, Progressive
Decreased circulating total IgM, Decreased circulating IgG level OMIM:247630
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Increased circulating antibody level, Hepatomegaly, Splenomegaly, Extramedullary hematopoiesis, L... OMIM:615285
Immunodeficiency 25
Increased circulating IgA level, Smooth muscle antibody positivity, Eosinophilia, Increased circu... OMIM:610163
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Recurrent otitis media, Neutropenia in presence of anti-neutropil antibodies, Fluctuating splenom... OMIM:619220
Autoimmune Lymphoproliferative Syndrome, Type Iia
Hepatomegaly, Rheumatoid factor positive, Lymphadenopathy, Nephrotic syndrome, Smooth muscle anti... OMIM:603909
Autoimmune Lymphoproliferative Syndrome, Type Iii
Elevated circulating C-reactive protein concentration, Absent isohemagglutinin level, Hepatomegal... OMIM:615559
Immunodeficiency 24
Decreased circulating IgG level, Lymphopenia, Defective T cell proliferation, Decreased specific ... OMIM:615897
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Lack of T cell function, Sinusitis, Inflammatory abnormality of the skin, Lymphopenia, Diarrhea, ... ORPHA:277
Retinal Telangiectasia And Hypogammaglobulinemia
Reduced delayed hypersensitivity, Decreased circulating IgG level OMIM:267900
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Glomerulonephritis, Thrombocytopenia, Increased circulating IgA level, Hematuria OMIM:314000
Eosinophilia, Familial
Anemia, Eosinophilia, Thrombocytopenia, Leukocytosis OMIM:131400
Immunodeficiency, Common Variable, 4
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:613494
Immunodeficiency With Hyper-Igm, Type 3
Decreased circulating IgA level, Decreased circulating IgG level, Impaired memory B cell generati... OMIM:606843
Immunodeficiency 40
Lymphopenia OMIM:616433
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Impaired lymphocyte transformation with phytohemagglutinin, Leukemia, Polyclonal elevation of IgM... OMIM:153600
Immunodeficiency 11
Decreased circulating antibody level OMIM:615206
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Acute monocytic leukemia, Eosinophilia, Monocytosis, Congenital agranulocytosis, Thrombocytosis, ... OMIM:202700
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive
Increased circulating interleukin 6 concentration, Decreased circulating IgG level, Recurrent ski... OMIM:618944
Immunodeficiency 72 With Autoinflammation
Herpes simplex encephalitis, Hepatosplenomegaly, Increased circulating IgG level, Increased B cel... OMIM:618982
Proteasome-Associated Autoinflammatory Syndrome 2
Increased circulating IgA level, Skin rash, Abnormal circulating IgM level, Increased circulating... OMIM:618048
Immunodeficiency 86
Increased circulating IgM level, Decreased circulating IgG level, Impaired oxidative burst OMIM:619549
Immunodeficiency, Common Variable, 6
Mesangial Immune complex deposition, Hepatomegaly, Nephrotic range proteinuria, Decreased specifi... OMIM:613496
Immunodeficiency 103, Susceptibility To Fungal Infections
Abnormal proportion of CD8-positive T cells, Chronic oral candidiasis, Abnormal B cell count, Hyp... OMIM:212050
Cephalin Lipidosis
Abnormality of the spleen OMIM:212800
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Systemic lupus erythematosus, Hepatomegaly, Coombs-positive hemolytic anemia, Splenomegaly, Autoi... OMIM:619375
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, B lymphocytopenia, Neutropenia OMIM:613107
B-Cell Expansion With Nfkb And T-Cell Anergy
Decreased specific antibody response to polysaccharide vaccine, Decreased circulating IgA level, ... OMIM:616452
Immunodeficiency 95
Decreased circulating IgG3 level, Recurrent viral pneumonia, Lymphopenia, Increased circulating I... OMIM:619773
Acute Myelomonocytic Leukemia
Anemia, Eosinophilia, Thrombocytopenia, Leukocytosis ORPHA:517
Immunodeficiency With Hyper-Igm, Type 5
Decreased circulating IgA level, Decreased circulating IgG level, Epididymitis, Increased circula... OMIM:608106
Undritz Anomaly
Hypersegmentation of neutrophil nuclei OMIM:191500
Immunoglobulin A Deficiency 2
Decreased circulating IgA level, Abnormal lymphocyte morphology, Autoimmunity OMIM:609529
Immunodeficiency 89 And Autoimmunity
Crohn's disease, Reduced circulating interleukin 27 concentration, Increased circulating IgA leve... OMIM:619632
Ras-Associated Autoimmune Leukoproliferative Disorder
Hepatomegaly, Lymphocytosis, Splenomegaly, Monocytosis, Autoimmune thrombocytopenia, Follicular h... OMIM:614470
Immunodeficiency 27A
Histiocytosis, Enlarged mesenteric lymph node, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Rh... OMIM:209950
Thrombocytopenia 2
Thrombocytopenia, Leukocytosis OMIM:188000
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Hepatomegaly, Lymphocytic interstitial pneumonia, Splenomegaly, Recurrent urinary tract infection... OMIM:618495
Immunodeficiency, Common Variable, 11
Crohn's disease, Decreased circulating IgG level, Mucoid diarrhea, Inflammation of the large inte... OMIM:615767
Immunodeficiency 105
Decreased circulating IgA level, Lymphopenia, Decreased circulating IgG level, Skin rash, Hepatos... OMIM:619924
Immunodeficiency 18
Defective T cell proliferation, Lymphopenia, Decreased proportion of CD3-positive T cells, Recurr... OMIM:615615
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Systemic lupus erythematosus, Lymphopenia, Splenomegaly, Autoimmune thrombocytopenia, Hemolytic a... ORPHA:444463
Immunodeficiency 36
Decreased circulating IgA level, Lymphopenia, Decreased circulating IgG level, Enlarged tonsils, ... OMIM:616005
Immunoerythromyeloid Hypoplasia
Decreased circulating IgG level, Erythroid hypoplasia OMIM:242880
C1Q Deficiency
Membranoproliferative glomerulonephritis, Systemic lupus erythematosus, Autoimmunity, Decreased s... OMIM:613652
Immune Deficiency, Familial Variable
Decreased circulating IgA level, Decreased circulating IgG level OMIM:146830
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4
Agammaglobulinemia, Decreased circulating antibody level OMIM:616911
Hemoglobin D Disease
Decreased mean corpuscular volume, Abnormal hemoglobin, HbS hemoglobin, Splenomegaly, Reduced alp... ORPHA:90039
Gamma-A-Globulin, Defect In Assembly Of
Decreased circulating IgA level OMIM:137050
Thrombocytopenia, Cyclic
Cyclic neutropenia, Thrombocytopenia, Neutropenia OMIM:188020
Combined Cellular And Humoral Immune Defects With Granulomas
Decreased circulating IgG level, B lymphocytopenia, T lymphocytopenia OMIM:233650
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin
Decreased circulating IgA level OMIM:235500
Bleeding Disorder, Platelet-Type, 16
Impaired platelet aggregation, Macrothrombocytopenia, Giant platelets, Platelet anisocytosis, Ane... OMIM:187800
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
T lymphocytopenia ORPHA:169095
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Increased circulating ferritin concentration, Splenomegaly, Anemia, Anisocytosis, Poikilocytosis,... ORPHA:766
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
Decreased circulating IgG level, T lymphocytopenia OMIM:242870
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Increased circulating antibody level, Decreased lymphocyte proliferation in response to mitogen, ... ORPHA:169154
Immunodeficiency, Common Variable, 1
Decreased circulating IgA level, Neutropenia in presence of anti-neutropil antibodies, Decreased ... OMIM:607594
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Decreased circulating IgG level, Abnormally low T cell receptor excision circle level, Cervical l... OMIM:618987
Complement Component 3 Deficiency, Autosomal Recessive
Systemic lupus erythematosus, Nephrotic syndrome, Recurrent tonsillitis, Decreased serum compleme... OMIM:613779
Histiocytosis, Progressive Mucinous
Mucinous histiocytosis OMIM:142630
Agammaglobulinemia 10, Autosomal Dominant
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... OMIM:619707
Immunodeficiency 60 And Autoimmunity
Crohn's disease, Decreased circulating IgA level, Colitis, Decreased circulating IgG level, Bronc... OMIM:618394
Histiocytosis, Familial Lipochrome
Histiocytosis, Increased circulating antibody level OMIM:235900
Hepatic Venoocclusive Disease With Immunodeficiency
Abnormality of the liver, Decreased circulating IgG level, Absence of lymph node germinal center OMIM:235550
Hemoglobin E-Beta-Thalassemia Syndrome
Increased circulating ferritin concentration, Anemia, Abnormal hemoglobin ORPHA:231249
Bleeding Disorder, Platelet-Type, 15
Increased mean platelet volume, Thrombocytopenia, Platelet anisocytosis OMIM:615193
Immunodeficiency, Common Variable, 3
Decreased circulating IgA level, Reduced isohemagglutinin level, Decreased circulating total IgM,... OMIM:613493
Bleeding Disorder, Platelet-Type, 24
Impaired collagen-induced platelet aggregation, Impaired ristocetin-induced platelet aggregation,... OMIM:619271
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal hemoglobin, Splenomegaly, Abnormal platelet function, Anemia, Thrombocytopenia ORPHA:231393
Platelet Glycoprotein Iv Deficiency
Thrombocytopenia, Giant platelets OMIM:608404
Thrombocytopenic Purpura, Autoimmune
Thrombocytopenia OMIM:188030
Caspase 8 Deficiency
Decreased circulating IgA level, Decreased circulating IgG level, Reduced CD95-induced lymphocyte... OMIM:607271
Schnitzler Syndrome
Hepatomegaly, Leukocytosis, Splenomegaly, Skin rash, Arthritis, Increased circulating IgM level, ... ORPHA:37748
Agammaglobulinemia 8A, Autosomal Dominant
Agammaglobulinemia, B lymphocytopenia, Recurrent otitis media OMIM:616941
Asthma, Short Stature, And Elevated Iga
Increased circulating IgA level OMIM:208600
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Leukopenia, Monocytosis, Bone marrow hypocellularity, Refractory anemia, Acute myeloid leukemia OMIM:616871
Okt4 Epitope Deficiency
Abnormal T cell morphology OMIM:613949
Systemic Lupus Erythematosus
Antiphospholipid antibody positivity, Systemic lupus erythematosus, Nephritis, Leukopenia, Arthri... OMIM:152700
Agammaglobulinemia 2, Autosomal Recessive
Decreased circulating IgA level, Decreased circulating total IgM, Absent circulating B cells, Rec... OMIM:613500
Cernunnos-Xlf Deficiency
Lymphopenia, B lymphocytopenia, T lymphocytopenia, Decreased circulating antibody level, Autoimmu... ORPHA:169079
Immunodeficiency With Hyper-Igm, Type 1
Hepatomegaly, Impaired memory B cell generation, Absence of lymph node germinal center, Decreased... OMIM:308230
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Anisocytosis, Leukopenia, Erythroid hypoplasia, Macrocytic anemia, Thrombocytosis, Bone marrow hy... ORPHA:86841
Lymphoproliferative Syndrome, X-Linked, 1
Neutropenia, Decreased circulating IgG level, Lymphocytosis, Hemophagocytosis, Splenomegaly, Hepa... OMIM:308240
Nephrotic Syndrome, Type 7
Nephrotic syndrome, Hemolytic anemia, Thickened glomerular basement membrane, Proteinuria, Acute ... OMIM:615008
Hyperimmunoglobulin G1(A1) Syndrome
Increased circulating IgA level, Increased circulating IgG level OMIM:144120
Agammaglobulinemia 6, Autosomal Recessive
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... OMIM:612692
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Impaired epinephrine-induced platelet aggregation, Neutrophil inclusion bodies, Leukocyte inclusi... OMIM:155100
Persistent Polyclonal B-Cell Lymphocytosis
Decreased circulating total IgM OMIM:606445
Immunodeficiency 8
Lymphopenia OMIM:615401
C3 Glomerulopathy
Chronic kidney disease, Nephrotic syndrome, Mesangial hypercellularity, Decreased serum complemen... ORPHA:329918
Neutropenia-Monocytopenia-Deafness Syndrome
Abnormality of neutrophils, Abnormal macrophage morphology ORPHA:2690
Severe Combined Immunodeficiency, X-Linked
Decreased circulating IgA level, Decreased circulating IgG level, Hepatomegaly, Chronic oral cand... OMIM:300400
Immunodeficiency 88
Eosinophilia OMIM:619630
Fetal Cytomegalovirus Syndrome
Anemia, Hepatomegaly, Splenomegaly ORPHA:294
Neutropenia, Chronic Familial
Increased circulating antibody level, Periodontitis, Neutropenia OMIM:162700
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Splenomegaly, Pancytopenia, Decreased helper T cell proportion, Cutaneous anergy, Hypersplenism OMIM:183350
Transcobalamin Deficiency
Decreased circulating IgA level, Neutropenia, Lymphopenia, Decreased circulating IgG level, Decre... ORPHA:859
Immunodeficiency, Common Variable, 5
Antinuclear antibody positivity, Chronic decreased circulating total IgG OMIM:613495
Neutropenia, Lethal Congenital, With Eosinophilia
Eosinophilia, Neutropenia OMIM:257100
Anemia, Congenital Dyserythropoietic, Type Ib
Anemia of inadequate production, Hepatomegaly, Splenomegaly, Anemia, Anisocytosis, Poikilocytosis... OMIM:615631
Cyclic Neutropenia
Cyclic neutropenia, Neutropenia OMIM:162800
Immunodeficiency, Common Variable, 14
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... OMIM:617765
Kimura Disease
Eosinophilia, Follicular hyperplasia, Increased circulating IgE level, Lymphadenopathy ORPHA:482
Giant platelet syndrome with thrombocytopenia
Thrombocytopenia, Giant platelets OMIM:137560
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Abnormal reticulocyte morphology, Anisocytosis, Macrocytic anemia, Poikilocytosis, Increased hemo... OMIM:300835
Mu-Heavy Chain Disease
Increased circulating antibody level, Hepatomegaly, Bence Jones Proteinuria, Splenomegaly, Nephro... ORPHA:100024
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Hypoplasia of the thymus, Eczema, Decreased proportion of CD8-positive T cells, Decreased proport... OMIM:617241
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant
Macrothrombocytopenia OMIM:619840
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Anemia of inadequate production, Hypochromic anemia, Anisocytosis, Poikilocytosis, Macrothrombocy... ORPHA:67044
Immunoglobulin Kappa Light Chain Deficiency
Abnormal immunoglobulin level OMIM:614102
Diamond-Blackfan Anemia 18
Steroid-responsive anemia, Neutropenia, Erythroid hypoplasia OMIM:618310
Immunodeficiency 52
Increased proportion of gamma-delta T cells, Lymphopenia, Coombs-positive hemolytic anemia, Splen... OMIM:617514
Autoimmune Hepatitis
Diffuse hepatic steatosis, Anti-liver cytosolic antigen type 1 antibody positivity, Jaundice, Inc... ORPHA:2137
Agammaglobulinemia 8B, Autosomal Recessive
Decreased circulating IgA level, Decreased circulating IgG level, Decreased proportion of CD8-pos... OMIM:619824
Thrombocytopenia 4
Thrombocytopenia, Abnormal platelet volume OMIM:612004
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Decreased circulating total IgM OMIM:610798
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Coombs-positive hemolytic anemia, Eosinophilia, Eczema, Autoimmune thrombocytopenia, Glomerulonep... OMIM:304790
Papular Xanthoma
Histiocytosis ORPHA:158008
Agammaglobulinemia 4, Autosomal Recessive
Decreased circulating IgA level, Recurrent otitis media, Decreased circulating IgG level, Decreas... OMIM:613502
Agammaglobulinemia 5, Autosomal Dominant
Agammaglobulinemia OMIM:613506
Autoimmune Lymphoproliferative Syndrome
Abnormal proportion of CD8-positive T cells, Hepatomegaly, Gastritis, Rheumatoid factor positive,... ORPHA:3261
Immunodeficiency, Common Variable, 7
Chronic (near) absent circulating IgG4, Decreased circulating IgA level, Reduced isohemagglutinin... OMIM:614699
X-Linked Lymphoproliferative Disease
Increased circulating ferritin concentration, Hemophagocytosis, Hepatic failure, Cervical lymphad... ORPHA:2442
Hypereosinophilic Syndrome, Idiopathic
Myeloproliferative disorder, Eosinophilia, Hepatomegaly, Splenomegaly OMIM:607685
Autoinflammation With Arthritis And Dyskeratosis
Increased circulating IgA level, Hepatomegaly, Splenomegaly, Increased circulating IgG level, Ker... OMIM:617388
Immunodeficiency 44
Decreased circulating IgA level, Decreased circulating total IgM, Abnormal circulating IgG level OMIM:616636
Immunodeficiency 42
Hypoplasia of the thymus OMIM:616622
Combined Immunodeficiency Due To Dock8 Deficiency
Recurrent bacterial skin infections, Atopic dermatitis, Chronic otitis media, B lymphocytopenia, ... ORPHA:217390
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Agammaglobulinemia, Hypoplasia of the thymus, Lymphopenia OMIM:200900
Myeloproliferative Disorder, Chronic, With Eosinophilia
Myeloproliferative disorder, Eosinophilia OMIM:131440
Nephrotic Syndrome, Type 23
Mesangial hypercellularity, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosclero... OMIM:619201
Neutrophilia, Hereditary
Hepatosplenomegaly, Neutrophilia OMIM:162830
Neutropenia, Severe Congenital, 7, Autosomal Recessive
Neutropenia OMIM:617014
Immunodeficiency, Common Variable, 2
Decreased circulating IgA level, Decreased circulating IgG level, Hepatomegaly, Splenomegaly, Par... OMIM:240500
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Eosinophilia, Lymphopenia ORPHA:2582
Combined Immunodeficiency, X-Linked
Sinusitis, Decreased circulating IgG level, Otitis media, Decreased proportion of CD8-positive T ... OMIM:312863
Immunodeficiency 102
Hepatomegaly, Partial absence of specific antibody response to unconjugated pneumococcus vaccine,... OMIM:301082
Tubulointerstitial Nephritis With Uveitis
Panuveitis, Circulating immune complexes, Reversible renal failure, Non-caseating epithelioid cel... OMIM:607665
Hemoglobin-Delta locus
Anemia, Imbalanced hemoglobin synthesis OMIM:142000
Immunodeficiency 14B, Autosomal Recessive
Neutrophilia, Leukocytosis, Monocytosis, B lymphocytopenia, Recurrent sinusitis, Thrombocytosis OMIM:619281
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Lymphopenia, Absent specific antibody response, Follicular hyperplasia, Autoimmune thrombocytopen... OMIM:619846
Juvenile Temporal Arteritis
Eosinophilia, Leukocytosis ORPHA:26137
Sting-Associated Vasculopathy, Infantile-Onset
Antiphospholipid antibody positivity, Lymphopenia, Increased circulating IgA level, Pustule, Skin... OMIM:615934
Immunodeficiency 50
Lymphopenia, Eczema, Recurrent urinary tract infections, Decreased circulating antibody level, Ne... OMIM:300988
Ichthyosis-Prematurity Syndrome
Eosinophilia ORPHA:88621
Hemoglobin H Disease
Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin OMIM:613978
Lymphoproliferative Syndrome, X-Linked, 2
Increased circulating ferritin concentration, Colitis, Hepatomegaly, Folliculitis, Hemophagocytos... OMIM:300635
Bleeding Disorder, Platelet-Type, 9
Thrombocytopenia OMIM:614200
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hypochromia, Decreased mean corpuscular volume, Increased circulating ferritin concentration, Hep... OMIM:616860
Omenn Syndrome
Hepatomegaly, Hypoproteinemia, Splenomegaly, Eosinophilia, Hypoplasia of the thymus, Severe B lym... OMIM:603554
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Anemia, Hepatomegaly, Splenomegaly ORPHA:46532
Slc35A1-Cdg
Thrombocytopenia, Abnormal platelet granules, Giant platelets, Neutropenia ORPHA:238459
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Anemia of inadequate production, Anisocytosis, Oval macrocytosis, Poikilocytosis OMIM:603529
Fechtner syndrome
Leukocyte inclusion bodies, Thrombocytopenia, Neutrophil inclusion bodies, Giant platelets OMIM:153640
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Lymphopenia, Hepatomegaly, Aplasia of the thymus, Splenomegaly, Abnormally low T cell receptor ex... OMIM:602450
Cyclic Neutropenia
Periodontitis, Sinusitis, Lymphopenia, Enterocolitis, Recurrent tonsillitis, Cervical lymphadenop... ORPHA:2686
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Hepatomegaly, Absent specific antibody response, Severe B lymphocytopenia, Diarrhea, B lymphocyto... OMIM:102700
Igg4-Related Aortitis
Increased circulating antibody level, Elevated circulating C-reactive protein concentration, Comp... ORPHA:449400
Erythroleukemia, Familial, Susceptibility To
Hepatomegaly, Splenomegaly, Anemia, Thrombocytopenia, Leukemia, Acute myeloid leukemia, Erythroid... OMIM:133180
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Hepatomegaly, Splenomegaly ORPHA:2274
Idiopathic Non-Lupus Full-House Nephropathy
Nephrotic syndrome, Skin rash, Glomerular C3 deposition, Decreased serum complement C3, Complemen... ORPHA:567544
Complement Component 4A Deficiency
Reduced hemolytic complement activity, Decreased serum complement C4, Systemic lupus erythematosu... OMIM:614380
Immunodeficiency 70
Colitis, Decreased circulating total IgA, Decreased circulating total IgM, B lymphocytopenia, Rec... OMIM:618969
Immunodeficiency 7
Lymphadenopathy, Hypereosinophilia OMIM:615387
Immunodeficiency 15B
Agammaglobulinemia, Decreased circulating antibody level OMIM:615592
Nephrotic Syndrome, Type 24
Focal segmental glomerulosclerosis, Podocyte foot process effacement, Renal cortical hyperechogen... OMIM:619263
Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant
Decreased circulating IgA level, Lymphopenia, Decreased circulating IgG level, Recurrent skin inf... OMIM:619752
Atypical Hemolytic Uremic Syndrome
Decreased serum complement factor B, Decreased serum complement factor I, Complement deficiency, ... ORPHA:2134
Nevoid Hypermelanosis, Linear And Whorled
Eosinophilia OMIM:614323
Immunodeficiency With Hyper-Igm, Type 2
Decreased circulating IgA level, Impaired Ig class switch recombination, Decreased circulating Ig... OMIM:605258
Myh9-Related Disease
Increased mean platelet volume, Congenital thrombocytopenia, Neutrophil inclusion bodies, Giant p... ORPHA:182050
Complement Component C1S Deficiency
Hepatitis, Systemic lupus erythematosus, Abnormality of complement system, Hashimoto thyroiditis OMIM:613783
Immunodeficiency 97 With Autoinflammation
Increased circulating ferritin concentration, Neutropenia in presence of anti-neutropil antibodie... OMIM:619802
Beta-Thalassemia, Dominant Inclusion Body Type
Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Erythrocyte inclusion bodies, Microcytic... OMIM:603902
Immunodeficiency 33
Decreased circulating total IgM, Increased circulating IgA level OMIM:300636
Pulmonary Nodular Lymphoid Hyperplasia
Follicular hyperplasia, Mediastinal lymphadenopathy, Plasmacytosis, Autoimmune antibody positivity ORPHA:60026
Hemophagocytic Lymphohistiocytosis, Familial, 4
Increased circulating ferritin concentration, Hepatomegaly, Hemophagocytosis, Splenomegaly, Hyper... OMIM:603552
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Decreased specific anti-polysaccharide antibody level, Sinusitis, Otitis media, Decreased specifi... ORPHA:70593
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive
Eosinophilic infiltration of the esophagus, Eosinophilia, Decreased circulating total IgM, Eczema... OMIM:243700
Agammaglobulinemia 7, Autosomal Recessive
Agammaglobulinemia OMIM:615214
Generalized Eruptive Histiocytosis
Histiocytosis, Leukemia, Hypereosinophilia ORPHA:157991
Hyper-Ige Recurrent Infection Syndrome 4B, Autosomal Recessive
Keratitis, Eosinophilia, Eczema, Chronic diarrhea, Recurrent otitis media, Bronchiectasis, Increa... OMIM:618523
Adult Idiopathic Neutropenia
Lymphopenia, Monocytosis, Increased circulating IgM level, Recurrent aphthous stomatitis, Neutrop... ORPHA:2688
Iron-Refractory Iron Deficiency Anemia
Elevated hepcidin level, Anisocytosis, Hypochromic microcytic anemia, Poikilocytosis OMIM:206200
Iga Pemphigus
Increased circulating IgA level, Pustule, Eosinophilia, Monoclonal elevation of circulating IgA, ... ORPHA:555905
Ataxia-Pancytopenia Syndrome
Hypoplastic anemia, Ataxia, Dysmetria, Acute myelomonocytic leukemia, Pancytopenia, Unsteady gait... OMIM:159550
Lymphoproliferative Syndrome 3
Hepatosplenomegaly, Decreased circulating antibody level, Lymphadenopathy, Partial absence of spe... OMIM:618261
Polyneuropathy Associated With Igm Monoclonal Gammapathy With Anti-Mag
Monoclonal immunoglobulin M proteinemia ORPHA:639
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization
Glomerulonephritis, Nephrotic syndrome, Renal insufficiency, Glomerular deposits ORPHA:69063
Hereditary Progressive Mucinous Histiocytosis
Mucinous histiocytosis ORPHA:158025
Congenital Amegakaryocytic Thrombocytopenia
Anemia, Abnormal hemoglobin, Thrombocytopenia ORPHA:3319
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Alpha-Thalassemia-Myelodysplastic Syndrome
Splenomegaly, Microcytic anemia, Neutropenia, HbH hemoglobin, Thrombocytopenia, Acute leukemia ORPHA:231401
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased specific anti-polysaccharide antibody level, Splenomegaly, Autoimmune thrombocytopenia,... OMIM:300853
Bone Marrow Failure Syndrome 2
Anemia, Bone marrow hypocellularity, Leukopenia, Thrombocytopenia OMIM:615715
Immunodeficiency 48
Eczematoid dermatitis, Hepatomegaly, Splenomegaly, Panhypogammaglobulinemia, Pneumonia, Absence o... OMIM:269840
Bernard-Soulier Syndrome
Impaired ristocetin-induced platelet aggregation, Thrombocytopenia, Macrothrombocytopenia, Giant ... OMIM:231200
Immunodeficiency 84
Perianal abscess, B lymphocytopenia, Splenomegaly OMIM:619437
Nephrotic Syndrome, Type 10
Podocyte foot process effacement, Nephrotic syndrome, Steroid-resistant nephrotic syndrome, Minim... OMIM:615861
Malaria
Gait imbalance, Elevated circulating C-reactive protein concentration, Hyperbilirubinemia, Anemia... ORPHA:673
Pgm3-Cdg
Abnormal proportion of CD8-positive T cells, Eczema, Rheumatoid factor positive, Chronic sinusiti... ORPHA:443811
Igg4-Related Kidney Disease
Abnormal ureter morphology, Pancreatitis, Elevated circulating C-reactive protein concentration, ... ORPHA:449395
Macrophage Activation Syndrome
Increased circulating ferritin concentration, Elevated circulating C-reactive protein concentrati... ORPHA:158061
Axonal Polyneuropathy Associated With Igg/Igm/Iga Monoclonal Gammopathy
Cryoglobulinemia, Monoclonal immunoglobulin M proteinemia ORPHA:209004
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Decreased glucose-6-phosphate dehydrogenase level in blood, Leukocytosis, Splenomegaly, Heinz bod... OMIM:300908
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Crohn's disease, Decreased circulating IgA level, Lymphopenia, Decreased circulating IgG level, H... OMIM:616100
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Decreased specific anti-polysaccharide antibody level, Decreased lymphocyte proliferation in resp... OMIM:606367
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Abnormal T cell count, Decreased circulating IgA level, Decreased lymphocyte proliferation in res... ORPHA:331206
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Amegakaryocytic thrombocytopenia ORPHA:71289
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Autoinflammatory-Pancytopenia Syndrome
Cholestatic liver disease, Hemophagocytosis, Intestinal inflammation, Hepatosplenomegaly, Membran... OMIM:619858
Chilblain Lupus
Increased circulating antibody level, Antiphospholipid antibody positivity, Systemic lupus erythe... ORPHA:90280
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... OMIM:611926
Immunodeficiency 11B With Atopic Dermatitis
Eosinophilia OMIM:617638
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Increased circulating ferritin concentration, Colitis, Hemophagocytosis, Splenomegaly, Abnormal n... OMIM:613101
Overhydrated Hereditary Stomatocytosis
Splenomegaly, Anisocytosis, Abnormal mean corpuscular volume, Hemolytic anemia, Decreased mean co... ORPHA:3203
Focal Segmental Glomerulosclerosis 1
Hyperlipidemia, Focal segmental glomerulosclerosis, Hypoalbuminemia, Proteinuria, Anemia, Stage 5... OMIM:603278
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Decreased lymphocyte proliferation in response to mitogen, Increased circulating antibody level, ... ORPHA:169160
Cinca Syndrome
Elevated circulating C-reactive protein concentration, Leukocytosis, Eosinophilia, Hepatosplenome... OMIM:607115
Immunodeficiency 85 And Autoimmunity
Decreased circulating IgA level, Oligoarthritis, Lymphopenia, Decreased circulating IgG level, De... OMIM:619510
Focal Segmental Glomerulosclerosis 10
Focal segmental glomerulosclerosis, Renal insufficiency, Proteinuria, Stage 5 chronic kidney dise... OMIM:256020
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Microcytic anemia, Abnormal hemoglobin, Splenomegaly ORPHA:231242
Niemann-Pick Disease, Type B
Sea-blue histiocytosis, Hepatomegaly, Increased LDL cholesterol concentration, Splenomegaly, Decr... OMIM:607616
Folate Malabsorption, Hereditary
Ataxia, Leukopenia, Athetosis, Neutropenia, Thrombocytopenia, Folate-responsive megaloblastic anemia OMIM:229050
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Increased circulating IgA level, Neutrophilia, Leukocytosis, Skin rash, Increased circulating IgM... OMIM:617099
Reticular Dysgenesis
Lack of T cell function, Lymphopenia, Hypoplasia of the thymus, Leukopenia, Congenital agranulocy... OMIM:267500
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Hepatomegaly, Pneumonia, Jaundice, Decreased proportion of naive T cells, Decreased circulating I... ORPHA:276
Sitosterolemia 1
Episodic hemolytic anemia, Splenomegaly, Reticulocytosis, Impaired platelet aggregation, Chronic ... OMIM:210250
Anemia, Sideroblastic, 5
Hypochromic microcytic anemia, Neutropenia, Reduced hematocrit, Anemia, Thrombocytopenia OMIM:619523
Anemia, Congenital Dyserythropoietic, Type Iv
Circulating nucleated red blood cells, Anemia of inadequate production, Hepatomegaly, Hyperbiliru... OMIM:613673
Immunoglobulin A Deficiency 1
Decreased circulating IgA level, Autoimmunity OMIM:137100
Amegakaryocytic Thrombocytopenia, Congenital
Thrombocytopenia, Amegakaryocytic thrombocytopenia, Pancytopenia OMIM:604498
Boutonneuse Fever
Skin rash, Cervical lymphadenopathy, Maculopapular exanthema, Leukopenia, Increased circulating I... ORPHA:83313
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant
Eczematoid dermatitis, Skin rash, Eosinophilia, Chronic mucocutaneous candidiasis, Recurrent pneu... OMIM:147060
Fanconi Anemia, Complementation Group G
Anemia, Thrombocytopenia, Leukemia, Neutropenia OMIM:614082
Immunodeficiency 19
Lymphopenia OMIM:615617
Beemer Lethal Malformation Syndrome
Thrombocytopenia OMIM:209970
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
T lymphocytopenia DECIPHER:16
Refractory Anemia
Anemia of inadequate production, Normocytic anemia, Erythroid hypoplasia, Macrocytic anemia, Neut... ORPHA:98826
Cirrhosis, Familial
Cirrhosis, Hepatitis, Chronic active hepatitis, Increased circulating antibody level OMIM:118900
Simple Cryoglobulinemia
Nephrotic syndrome, Viral hepatitis, Nephritis, Mesangial hypercellularity, Complement deficiency... ORPHA:91139
Thrombocytopenia 7
Impaired collagen-induced platelet aggregation, Impaired ristocetin-induced platelet aggregation,... OMIM:619130
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
Abnormally low T cell receptor excision circle level, T lymphocytopenia OMIM:618806
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults
Acute myeloid leukemia, Neutropenia OMIM:607847
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
Decreased helper T cell proportion, T lymphocytopenia OMIM:601705
Halothane Hepatitis
Eosinophilia, Hepatitis, Viral hepatitis, Jaundice OMIM:234350
Benign Cephalic Histiocytosis
Histiocytosis ORPHA:157997
Sea-Blue Histiocyte Disease
Cirrhosis, Sea-blue histiocytosis, Thrombocytopenia, Splenomegaly OMIM:269600
Anemia, Congenital Dyserythropoietic, Type Ia
Anemia of inadequate production, Hepatomegaly, Hyperbilirubinemia, Prolonged neonatal jaundice, S... OMIM:224120
Nephrotic Syndrome, Type 26
Focal segmental glomerulosclerosis, Nephrotic syndrome, Stage 5 chronic kidney disease, Steroid-r... OMIM:620049
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Chronic kidney disease, Renal tubular atrophy, Hyperechogenic kidneys, Tubulointerstitial fibrosi... OMIM:613092
Hemoglobin E Disease
Hypochromia, Anemia of inadequate production, Abnormal hemoglobin, Decreased mean corpuscular vol... ORPHA:2133
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Increased mean corpuscular volume, Neutropenia, Pancytopenia, Bone marrow hypocellularity, Anemia... OMIM:619041
Lymphoproliferative Syndrome 1
Increased circulating ferritin concentration, Decreased circulating IgG level, Hepatomegaly, Elev... OMIM:613011
Acquired Idiopathic Sideroblastic Anemia
Anemia of inadequate production, Granulocytopenia, Neutropenia, Hepatomegaly, Leukocytosis, Splen... ORPHA:75564
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Increased mean platelet volume, Increased size of the mandible, Thrombocytopenia OMIM:300048
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Nonspherocytic hemolytic anemia, Jaundice, Splenomegaly OMIM:206400
Autoinflammation With Episodic Fever And Lymphadenopathy
Hepatomegaly, Recurrent tonsillitis, Splenomegaly, Rheumatoid factor positive, Microcytic anemia,... OMIM:618852
Myelolymphatic Insufficiency
Leukopenia, Hyposegmentation of neutrophil nuclei OMIM:310350
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Otitis media, Purulent rhinitis, B lymphocytopenia, Panhypogammaglobulinemia, T lymphocytopenia, ... OMIM:601457
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Nephrotic syndrome, Nephropathy, Focal segmental glomerulosclerosis, Proteinuria, Renal insuffici... OMIM:254900
Immunodeficiency 98 With Autoinflammation, X-Linked
Recurrent otitis media, Decreased circulating IgG level, Hepatomegaly, Hemophagocytosis, Splenome... OMIM:301078
Polycythemia Vera
Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Thrombocytosis, ... OMIM:263300
Hemophagocytic Lymphohistiocytosis, Familial, 3
Granulocytopenia, Hemophagocytosis, Hepatosplenomegaly, Reduced natural killer cell activity, Anemia OMIM:608898
Macrosomia Adiposa Congenita
Eosinophilia OMIM:248100
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Decreased lymphocyte proliferation in response to anti-CD3, Hypoplasia of the thymus, Diarrhea, B... OMIM:619313
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Thrombocytopenia OMIM:166990
Thymoma
Systemic lupus erythematosus, Rheumatoid arthritis, Abnormal lymphocyte physiology, Aplastic anem... ORPHA:99867
Acquired Partial Lipodystrophy
Lymphocytosis, Decreased serum complement C3, Microscopic hematuria, Autoimmunity, Proteinuria, G... ORPHA:79087
Immunodeficiency 91 And Hyperinflammation
Elevated circulating C-reactive protein concentration, Neutrophilia, Hemophagocytosis, Hepatomega... OMIM:619644
Immunodeficiency, Common Variable, 13
Acute lymphoblastic leukemia, Decreased circulating antibody level, B lymphocytopenia, Pancytopenia OMIM:616873
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Insulin Autoimmune Syndrome
Increased circulating antibody level, Systemic lupus erythematosus, Autoimmune antibody positivit... ORPHA:411593
Genetic Steroid-Resistant Nephrotic Syndrome
Chronic kidney disease, Diffuse mesangial sclerosis, Peritonitis, Focal segmental glomerulosclero... ORPHA:656
Spastic Paraplegia, Sensorineural Deafness, Mental Retardation, And Progressive Nephropathy
Focal segmental glomerulosclerosis, Nephropathy, IgA deposition in the glomerulus OMIM:182690
Agammaglobulinemia 3, Autosomal Recessive
Agammaglobulinemia, Recurrent otitis media, Diarrhea, Neutropenia OMIM:613501
Autoinflammation, Immune Dysregulation, And Eosinophilia
Nephrotic syndrome, Eosinophilic liver infiltration, Atopic dermatitis, Eosinophilia, Hepatosplen... OMIM:618999
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1
Eosinophilia, Elevated circulating creatine kinase concentration, Difficulty walking OMIM:253600
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Gastritis, Eczema, Decreased prealbumin level, Anti-thyroid peroxidase antibody positivity, Anti-... ORPHA:37042
Immunodeficiency 23
Lymphopenia, Eosinophilia, Abscess, Membranoproliferative glomerulonephritis, Increased circulati... OMIM:615816
Nephrotic Syndrome, Type 13
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Steroid-resistant nephrotic s... OMIM:616893
Nephrotic Syndrome, Type 18
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Steroid-resistan... OMIM:618177
Galactosemia I
Increased level of galactitol in urine, Increased level of galactitol in red blood cells, Hepatom... OMIM:230400
Pelger-Huet Anomaly
Hyposegmentation of neutrophil nuclei, Abnormality of neutrophils, Giant platelets, Neutropenia, ... OMIM:169400
Focal Segmental Glomerulosclerosis 8
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease OMIM:616032
Nephrotic Syndrome, Type 20
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease OMIM:301028
Nephrotic Syndrome, Type 19
Focal segmental glomerulosclerosis, Chronic kidney disease, Proteinuria, Steroid-resistant nephro... OMIM:618178
Focal Segmental Glomerulosclerosis 7
Nephrotic syndrome, Focal segmental glomerulosclerosis, Renal hypoplasia, Proteinuria, Stage 5 ch... OMIM:616002
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Recurrent pancreatitis, Splenomegaly OMIM:118830
Diamond-Blackfan Anemia 19
Steroid-responsive anemia, Anemia, Erythroid hypoplasia OMIM:618312
Immunodeficiency 92
Decreased circulating IgA level, Abnormal B cell proliferation, Decreased circulating IgG level, ... OMIM:619652
Peeling Skin Syndrome 1
Erythroderma, Eosinophilia, Increased circulating IgE level OMIM:270300
Nephrotic Syndrome, Type 17
Steroid-resistant nephrotic syndrome, Focal segmental glomerulosclerosis, Proteinuria, Microscopi... OMIM:618176
Hyper-Igd Syndrome
Increased circulating IgA level, Neutrophilia, Leukocytosis, Splenomegaly, Chronic oral candidias... OMIM:260920
Nephronophthisis 13
Global glomerulosclerosis, Glomerular subepithelial immune-complex deposits, Nephronophthisis, In... OMIM:614377
Reticuloendotheliosis, X-Linked
Anemia, Hepatosplenomegaly, Lymphadenopathy, Jaundice OMIM:312500
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Neutropenia in presence of anti-neutropil antibodies, Splenomegaly, B lymphocytopenia, T lymphocy... ORPHA:231154
Immunodeficiency 76
Lymphopenia, Splenomegaly, B lymphocytopenia, T lymphocytopenia, Lymphadenopathy OMIM:619164
Bilateral Striopallidodentate Calcinosis
Thrombocytopenia, Hepatomegaly, Abnormality of the liver ORPHA:1980
Immunodeficiency With Hyper-Igm, Type 4
Osteomyelitis, Autoimmune thrombocytopenia, Absence of lymph node germinal center, Bronchiectasis... OMIM:608184
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Hemolytic anemia, Increased mean platelet volume, Stomatocytosis, Splenomegaly OMIM:153670
Immunodeficiency 69
Increased circulating ferritin concentration, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Thr... OMIM:618963
Acetophenetidin Sensitivity
Hemolytic anemia, Methemoglobinemia OMIM:200300
Idiopathic Chronic Eosinophilic Pneumonia
Elevated circulating C-reactive protein concentration, Leukocytosis, Atopic dermatitis, Autoimmun... ORPHA:2902
Immunodeficiency By Defective Expression Of Mhc Class Ii
Chronic hepatitis due to cryptosporidium infection, Panhypogammaglobulinemia, Pancytopenia, Rhini... ORPHA:572
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Cholestatic liver disease, Liver kidney microsome type 1 antibody positivity, Smooth muscle antib... ORPHA:562639
Immunodeficiency 75
Decreased proportion of class-switched memory B cells, Hepatosplenomegaly, Follicular hyperplasia... OMIM:619126
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM OMIM:300861
Autoinflammatory Disease, Systemic, X-Linked
Osteomyelitis, Decreased circulating IgG level, Panuveitis, Optic neuritis, Decreased circulating... OMIM:301081
Preeclampsia/Eclampsia 1
Thrombocytopenia OMIM:189800
Focal Segmental Glomerulosclerosis 2
Chronic kidney disease, Nephrotic syndrome, Focal segmental glomerulosclerosis, Proteinuria, Stag... OMIM:603965
Familial Mediterranean Fever
Crohn's disease, Nephrotic syndrome, Hepatomegaly, Neutrophilia, Leukocytosis, Splenomegaly, Orch... OMIM:249100
C3 Glomerulopathy 3
Glomerulonephritis, Hematuria, Stage 5 chronic kidney disease, Renal insufficiency OMIM:614809
Complement Component C1R/C1S Deficiency
Discoid lupus rash, Nephritis, Complement deficiency, Arthritis, Autoimmunity OMIM:216950
Immunodeficiency 51
Chronic furunculosis, Chronic oral candidiasis, Folliculitis, Recurrent cutaneous fungal infectio... OMIM:613953
Cystic Echinococcosis
Increased circulating antibody level, Cholestatic liver disease, Hepatomegaly, Hyperbilirubinemia... ORPHA:400
Immunodeficiency 16
Pancytopenia, Coombs-positive hemolytic anemia, Splenomegaly OMIM:615593
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Decreased circulating IgA level, Decreased circulating IgG level, Chronic oral candidiasis, Skin ... ORPHA:275
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Crohn's disease, Decreased circulating IgG level, Decreased circulating total IgM, B lymphocytope... OMIM:619705
Immunodeficiency 67
Increased circulating IgE level, Liver abscess, Transient neutropenia OMIM:607676
Wiskott-Aldrich Syndrome, Autosomal Dominant
Decreased specific anti-polysaccharide antibody level, Sinusitis, Lymphopenia, Increased circulat... OMIM:600903
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Chronic kidney disease, Nephropathy, Gout, Focal segmental glomerulosclerosis, Renal cyst, Neutro... OMIM:617056
Specific Granule Deficiency 1
Absent neutrophil lactoferrin, Hyposegmentation of neutrophil nuclei, Impaired neutrophil bacteri... OMIM:245480
Idiopathic Steroid-Resistant Nephrotic Syndrome
Abnormal urine output, Diffuse mesangial sclerosis, Peritonitis, Abnormal glomerular visceral epi... ORPHA:567548
Focal Segmental Glomerulosclerosis 9
Focal segmental glomerulosclerosis, Nephrotic syndrome OMIM:616220
Immunodeficiency 21
Lymphopenia, Abnormal natural killer cell morphology, Aplastic anemia, Myeloid leukemia, Neutrope... OMIM:614172
Gray Platelet Syndrome
Abnormality of thrombocytes, Thrombocytopenia, Splenomegaly ORPHA:721
Bacterial Toxic-Shock Syndrome
Abscess, Diarrhea, Vomiting, Myocarditis, Pneumonia, Septic arthritis, Increased circulating myel... ORPHA:36234
Immune Deficiency Disease
Decreased circulating total IgM OMIM:242850
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Increased blood urea nitrogen, Elevated circulating creatinine concentration, Microangiopathic he... OMIM:612922
Bleeding Disorder, Platelet-Type, 19
Anemia, Macrothrombocytopenia OMIM:616176
Immunodeficiency 57 With Autoinflammation
Gastritis, Skin rash, B lymphocytopenia, T lymphocytopenia, Inflammation of the large intestine, ... OMIM:618108
Cyanosis, Transient Neonatal
Methemoglobinemia, Hepatomegaly, Anemia, Reticulocytosis, Jaundice OMIM:613977
Delta-Beta-Thalassemia
Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231237
Trimethylaminuria
Anemia, Neutropenia, Splenomegaly OMIM:602079
Myeloproliferative Syndrome, Transient
Transient myeloproliferative syndrome, Leukocytosis OMIM:159595
Ataxia-Pancytopenia Syndrome
Hypoplastic anemia, Ataxia, Acute myelomonocytic leukemia, Splenomegaly, Abnormal platelet functi... ORPHA:2585
Leukocyte Adhesion Deficiency, Type Iii
Hepatomegaly, Leukocytosis, Splenomegaly, Extramedullary hematopoiesis, Abnormality of the lymph ... OMIM:612840
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Increased blood urea nitrogen, Elevated circulating creatinine concentration, Microangiopathic he... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Increased blood urea nitrogen, Elevated circulating creatinine concentration, Microangiopathic he... OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Increased blood urea nitrogen, Elevated circulating creatinine concentration, Microangiopathic he... OMIM:612926
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia
Thrombocytopenia, Impaired platelet aggregation, Macrothrombocytopenia OMIM:124900
Ige Responsiveness, Atopic
Allergic rhinitis, Increased circulating IgE level, Eczema OMIM:147050
Alpha-Heavy Chain Disease
Hepatomegaly, Splenomegaly, Dysgammaglobulinemia, Anemia, Ascites, Lymphadenopathy ORPHA:100025
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Thrombocytopenia, Lymphocytosis, Decreased mean platelet volume, Lymphadenopathy OMIM:617718
Hyperbilirubinemia, Shunt, Primary
Anemia of inadequate production, Hepatomegaly, Hyperbilirubinemia, Splenomegaly, Reticulocytosis,... OMIM:237800
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Decreased lymphocyte proliferation in response to anti-CD3, Recurrent otitis media, Neutropenia, ... OMIM:618986
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hepatomegaly, Splenomegaly, Hypocholesterolemia, Anemia, Thrombocytopenia, Hypersplenism OMIM:610539
Fusariosis
Keratitis, Sinusitis, Osteomyelitis, Lymphopenia, Maculopapular exanthema, Peritonitis, Abnormali... ORPHA:228119
X-Linked Agammaglobulinemia
Sinusitis, Hypocalcemia, Osteomyelitis, Skin rash, Abnormality of the lymphatic system, Chronic o... ORPHA:47
Mucopolysaccharidosis-Plus Syndrome
Nephrotic syndrome, Hepatomegaly, Nephritis, Renal tubular atrophy, Splenomegaly, Leukopenia, Mac... OMIM:617303
Immunodeficiency 15A
Decreased proportion of CD8-positive T cells, Cutaneous abscess, Decreased proportion of CD4-posi... OMIM:618204
Autosomal Dominant Severe Congenital Neutropenia
Lymphopenia, Eosinophilia, Monocytosis, Aplastic anemia, Acute lymphoblastic leukemia, Neutropeni... ORPHA:486
Multiple Myeloma
Nephrotic syndrome, Increased circulating IgA level, Splenomegaly, Nephropathy, Increased circula... ORPHA:29073
Microscopic Polyangiitis
Sinusitis, Pancreatitis, Skin rash, Peritonitis, Diarrhea, Hematuria, Arthritis, Oliguria, Uveiti... ORPHA:727
Idiopathic Pulmonary Hemosiderosis
Hepatomegaly, Smooth muscle antibody positivity, Hepatosplenomegaly, Antineutrophil antibody posi... ORPHA:99931
Lipodystrophy, Partial, Acquired, Susceptibility To
Nephrotic syndrome, Abnormal circulating lipid concentration, Decreased serum complement C3, Memb... OMIM:608709
Focal Segmental Glomerulosclerosis 4, Susceptibility To
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease OMIM:612551
Focal Segmental Glomerulosclerosis 6
Chronic kidney disease, Nephrotic syndrome, Renal tubular atrophy, Hematuria, Focal segmental glo... OMIM:614131
Lysinuric Protein Intolerance
Increased circulating ferritin concentration, Pancreatitis, Hepatomegaly, Hemophagocytosis, Decre... ORPHA:470
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Increased blood urea nitrogen, Elevated circulating creatinine concentration, Microangiopathic he... OMIM:612925
Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive
Micrognathia, Eosinophilia OMIM:618282
Fanconi Anemia, Complementation Group T
Bone marrow hypocellularity, Anemia, Thrombocytopenia, Pancytopenia OMIM:616435
Alpha-Thalassemia
Cholelithiasis, Abnormal hemoglobin, Splenomegaly, Hemolytic anemia, Microcytic anemia, Anemia, J... ORPHA:846
Systemic Lupus Erythematosus 17
Systemic lupus erythematosus, Lymphopenia, Optic neuritis, Decreased serum complement C3, Leukope... OMIM:301080
Fetal Parvovirus Syndrome
Anemia, Thrombocytopenia, Ascites ORPHA:295
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Increased mean corpuscular volume, Thrombocytopenia, Acute myeloid leukemia OMIM:252270
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations
Lymphopenia, Neutropenia OMIM:614868
Deafness, Neural, With Atypical Atopic Dermatitis
Increased circulating IgE level, Late onset atopic dermatitis OMIM:221700
Congenital Dyserythropoietic Anemia Type Iii
Increased mean corpuscular volume, Hyperbilirubinemia, Anisocytosis, Poikilocytosis, Increased se... ORPHA:98870
Shigellosis
Bloody mucoid diarrhea, Urethritis, Abscess, Vomiting, Cholestasis, Myocarditis, Uveitis, Pneumon... ORPHA:810
Immunodeficiency 49
Micrognathia, Eosinophilia, Lymphopenia, Natal tooth OMIM:617237
Eosinophilic Gastroenteritis
Elevated circulating C-reactive protein concentration, Leukocytosis, Eosinophilia, Hypoalbuminemi... ORPHA:2070
Immunodeficiency 96
Increased mean corpuscular volume, Decreased circulating IgA level, Decreased circulating IgG lev... OMIM:619774
Whim Syndrome 1
Bronchiectasis, Decreased circulating antibody level, Decreased circulating IgG level, Neutropenia OMIM:193670
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature
Decreased circulating total IgM OMIM:615139
Chronic Myeloid Leukemia
Leukocytosis, Splenomegaly, Myeloproliferative disorder, Abnormal granulocyte morphology, Thrombo... ORPHA:521
Wiskott-Aldrich Syndrome 2
Defective T cell proliferation, Eczema, Decreased proportion of CD8-positive T cells, Reduced nat... OMIM:614493
Focal Segmental Glomerulosclerosis 5
Focal segmental glomerulosclerosis, Microscopic hematuria, Proteinuria, Stage 5 chronic kidney di... OMIM:613237
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Nephrolithiasis, Chronic kidney disease, Renal tubular atrophy, Low-molecular-weight proteinuria,... OMIM:310468
Eosinophilopenia
Decreased eosinophil count OMIM:131430
Insulin-Resistance Syndrome Type B
Abnormal circulating fatty-acid concentration, Glycosuria, Proteinuria, Pneumonia, Enlarged polyc... ORPHA:2298
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Megaloblastic anemia, Anemia of inadequate production, Lymphopenia, Eczema, Macrocytic anemia, Th... OMIM:617780
Purine Nucleoside Phosphorylase Deficiency
Decreased lymphocyte proliferation in response to mitogen, Sinusitis, Neutropenia in presence of ... OMIM:613179
Primary Membranoproliferative Glomerulonephritis
Chronic kidney disease, Nephrotic syndrome, Decreased serum complement C3, C3 nephritic factor po... ORPHA:54370
Immunodeficiency 46
Chronic oral candidiasis, Decreased circulating antibody level, Intermittent thrombocytopenia, Ne... OMIM:616740
Focal Segmental Glomerulosclerosis 3, Susceptibility To
Focal segmental glomerulosclerosis, Hematuria, Proteinuria, Renal insufficiency OMIM:607832
Primary Biliary Cholangitis
Gastrointestinal inflammation, Increased circulating IgA level, Elevated circulating alkaline pho... ORPHA:186
Immunodeficiency 104
Hepatomegaly, Otitis media, Splenomegaly, Eczema, T lymphocytopenia, Chronic mucocutaneous candid...