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Gene: Tnip1 MGI:1926194

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Gene Summary

Name:
TNFAIP3 interacting protein 1
Synonyms:
ABIN1,  Nef,  VAN,  A20-binding inhibitor of NF-kappa B activation

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
increased large unstained cell number Tnip1tm1b(EUCOMM)Hmgu HOM Early adult 1.70×10-18
decreased circulating serum albumin level Tnip1tm1b(EUCOMM)Hmgu HOM Early adult 1.81×10-11
decreased circulating glucose level Tnip1tm1b(EUCOMM)Hmgu HOM Early adult 1.38×10-05
increased spleen weight Tnip1tm1b(EUCOMM)Hmgu HOM Early adult 0.00
increased mean corpuscular hemoglobin concentration Tnip1tm1b(EUCOMM)Hmgu HOM Early adult 9.95×10-08
thrombocytopenia Tnip1tm1b(EUCOMM)Hmgu HOM Early adult 4.33×10-33
decreased erythrocyte cell number Tnip1tm1b(EUCOMM)Hmgu HOM Early adult 1.49×10-30
increased circulating potassium level Tnip1tm1b(EUCOMM)Hmgu HOM Early adult 1.17×10-06
decreased circulating iron level Tnip1tm1b(EUCOMM)Hmgu HOM Early adult 1.00×10-09
prolonged RR interval Tnip1tm1b(EUCOMM)Hmgu HOM Early adult 1.66×10-05
increased circulating alkaline phosphatase level Tnip1tm1b(EUCOMM)Hmgu HOM Early adult 0.00
increased circulating aspartate transaminase level Tnip1tm1b(EUCOMM)Hmgu HOM Early adult 1.31×10-30
increased monocyte cell number Tnip1tm1b(EUCOMM)Hmgu HOM Early adult 1.34×10-14
increased circulating alanine transaminase level Tnip1tm1b(EUCOMM)Hmgu HOM Early adult 0.00
increased red blood cell distribution width Tnip1tm1b(EUCOMM)Hmgu HOM Early adult 1.08×10-35
decreased hematocrit Tnip1tm1b(EUCOMM)Hmgu HOM Early adult 2.30×10-31
increased mean corpuscular hemoglobin Tnip1tm1b(EUCOMM)Hmgu HOM Early adult 1.33×10-08
increased basophil cell number Tnip1tm1b(EUCOMM)Hmgu HOM Early adult 6.81×10-07
decreased circulating fructosamine level Tnip1tm1b(EUCOMM)Hmgu HOM Early adult 1.71×10-21
increased mean platelet volume Tnip1tm1b(EUCOMM)Hmgu HOM Early adult 1.76×10-33
decreased circulating HDL cholesterol level Tnip1tm1b(EUCOMM)Hmgu HOM Early adult 9.93×10-20
decreased circulating cholesterol level Tnip1tm1b(EUCOMM)Hmgu HOM Early adult 5.70×10-23
decreased circulating triglyceride level Tnip1tm1b(EUCOMM)Hmgu HOM Early adult 8.19×10-05
decreased lymphocyte cell number Tnip1tm1b(EUCOMM)Hmgu HOM Early adult 9.47×10-08
decreased hemoglobin content Tnip1tm1b(EUCOMM)Hmgu HOM Early adult 7.58×10-22

Download data as:  TSV  XLS

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lacZ Expression

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

Anatomy Images Zygosity Mutant Expr
Brain  Wholemount images heterozygote 100% (2 of 2)
Brainstem  Wholemount images heterozygote 100% (2 of 2)
Cerebellum  Wholemount images heterozygote 100% (2 of 2)
Cerebral cortex  Wholemount images heterozygote 100% (2 of 2)
Heart  Wholemount images heterozygote 100% (2 of 2)
Hippocampus  Wholemount images heterozygote 100% (2 of 2)
Hypothalamus  Wholemount images heterozygote 100% (2 of 2)
Kidney  Wholemount images heterozygote 100% (2 of 2)
Large intestine  Wholemount images heterozygote 100% (2 of 2)
Lower urinary tract  Wholemount images heterozygote 100% (2 of 2)
Lung  Wholemount images heterozygote 100% (2 of 2)
Lymph node  Wholemount images heterozygote 100% (2 of 2)
Olfactory lobe  Wholemount images heterozygote 100% (2 of 2)
Oral epithelium  Wholemount images heterozygote 100% (2 of 2)
Ovary  Wholemount images heterozygote 50% (1 of 2)
Oviduct  Wholemount images heterozygote 50% (1 of 2)
Parathyroid gland  Wholemount images heterozygote 100% (2 of 2)
Peyer's patch  Wholemount images heterozygote 100% (2 of 2)
Skin  Wholemount images heterozygote 100% (2 of 2)
Small intestine  Wholemount images heterozygote 100% (2 of 2)
Spinal cord  Wholemount images heterozygote 100% (2 of 2)
Stomach  Wholemount images heterozygote 100% (2 of 2)
Striatum  Wholemount images heterozygote 100% (2 of 2)
Testis  Wholemount images heterozygote 50% (1 of 2)
Thymus  Wholemount images heterozygote 100% (2 of 2)
Thyroid gland  Wholemount images heterozygote 50% (1 of 2)
Uterus  Wholemount images heterozygote 50% (1 of 2)
Vascular system  Wholemount 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)
Bone 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)
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)
Liver N/A heterozygote 0.0% (0 of 2)
Mammary gland 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)
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)
Spleen N/A heterozygote 0.0% (0 of 2)
Trachea 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 0.7% (4 of 573)
aorta 0.18% (1 of 571)
bone 0.0%
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)
esophagus 1.8% (7 of 389)
eye 0.0%
gall bladder 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%
olfactory lobe 0.18% (1 of 553)
oral epithelium 0.0%
ovary 0.18% (1 of 566)
oviduct 0.0%
pancreas 0.89% (5 of 559)
parathyroid gland 0.18% (1 of 546)
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)
testis 1.05% (6 of 572)
thymus 0.18% (1 of 567)
thyroid gland 2.84% (16 of 563)
trachea 0.53% (3 of 562)
uterus 0.0%
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 508)
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)
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)
oral cavity 0.2% (1 of 503)
skin 0.2% (1 of 508)
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.

Adult LacZ

LacZ Images Wholemount

19 Images

View images
Embryo LacZ

LacZ images wholemount

8 Images

View images

Human diseases caused by Tnip1 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 Tnip1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Immunodeficiency 64
Abnormal CD4:CD8 ratio, Anti-thyroid peroxidase antibody positivity, Defective T cell proliferati... OMIM:618534
Autoimmune Lymphoproliferative Syndrome
Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, Neutropenia in ... OMIM:601859
Autoimmune Lymphoproliferative Syndrome, Type Iia
Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, Neutropenia in ... OMIM:603909
Complement Component 4, Partial Deficiency Of
Systemic lupus erythematosus OMIM:120790
Autoimmune Lymphoproliferative Syndrome, Type Iii
Autoimmunity, Lymphadenopathy, Splenomegaly, Increased proportion autoreactive unresponsive CD21-... OMIM:615559
Autoimmune Disease
Autoimmunity, Autoimmune antibody positivity OMIM:109100
Ras-Associated Autoimmune Leukoproliferative Disorder
Hepatomegaly, Autoimmunity, Neutropenia, Monocytosis, Leukemia, Decreased lymphocyte apoptosis, S... OMIM:614470
Immunodeficiency, Common Variable, 11
Decreased proportion of class-switched memory B cells, Inflammation of the large intestine, Mucoi... OMIM:615767
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Absent tonsils, B lymphocytopenia, Pulmonary insufficiency, Autoimmunity, Anti-thyroid peroxidase... ORPHA:277
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive
Atopic dermatitis, Decreased proportion of class-switched memory B cells, Increased circulating i... OMIM:618944
Immunodeficiency 72 With Autoinflammation
Increased B cell count, Herpes simplex encephalitis, Increased proportion of memory T cells, Bron... OMIM:618982
Immunodeficiency 25
Erythroderma, Complete or near-complete absence of specific antibody response to tetanus vaccine,... OMIM:610163
Immunodeficiency 14A, Autosomal Dominant
Decreased specific pneumococcal antibody level, Increased proportion of transitional B cells, Dec... OMIM:615513
Lymphoproliferative Syndrome, X-Linked, 1
Hepatomegaly, Neutropenia, Infectious encephalitis, Lymphadenopathy, Reduced natural killer cell ... OMIM:308240
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Fluctuating splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Lymphadenopathy, ... OMIM:619220
Schnitzler Syndrome
Leukocytosis, Hepatomegaly, Lymphadenopathy, Anemia, Arthritis, Splenomegaly, Vasculitis, Increas... ORPHA:37748
Immunodeficiency 14B, Autosomal Recessive
Thrombocytosis, Leukocytosis, B lymphocytopenia, Inflammation of the large intestine, Monocytosis... OMIM:619281
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Autoimmunity, Hepatomegaly, Failure to thrive, Lymphadenopathy, Recurrent otitis media, Splenomeg... OMIM:618495
Immunodeficiency 27A
Leukocytosis, Enlarged mesenteric lymph node, Thrombocytosis, Pneumonia, Lymphadenopathy, Weight ... OMIM:209950
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Autoimmunity, Impaired lymphocyte transformation with phytohemagglutinin, Decreased specific pneu... OMIM:617006
Immunoglobulin A Deficiency 2
Recurrent infection of the gastrointestinal tract, Autoimmunity, Decreased circulating IgA level,... OMIM:609529
Immunodeficiency 24
Decreased specific pneumococcal antibody level, Defective T cell proliferation, Decreased circula... OMIM:615897
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Increased serum iron, Congenital hemolytic anemia, Reduced red cell pyruvate kinase level, Unconj... ORPHA:766
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Pneumonia, Increased circulating antibody level, Lymphopenia, Plasmacytosis, Glomerulonephritis, ... OMIM:247800
Immunodeficiency 89 And Autoimmunity
Hypochromic microcytic anemia, Bronchiectasis, Increased circulating IgA level, Increased circula... OMIM:619632
Aicardi-Goutieres Syndrome 7
Atopic dermatitis, Hepatomegaly, Nephrotic syndrome, Splenomegaly, Increased circulating antibody... OMIM:615846
Lymphoma, Hodgkin, Classic
Impaired lymphocyte transformation with phytohemagglutinin, Polyclonal elevation of IgM OMIM:236000
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Neutropenia, Erythroderma, Increased circulating IgA level, Lymphadenopathy, Decreased lymphocyte... ORPHA:169154
Hemoglobin D Disease
Reduced alpha/beta synthesis ratio, Imbalanced hemoglobin synthesis, Sickled erythrocytes, Anemia... ORPHA:90039
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Hepatomegaly, Anemia, Persistence of hemoglobin F, Splenomegaly, Pallor ORPHA:46532
Hemoglobin E-Beta-Thalassemia Syndrome
Anemia, Increased circulating ferritin concentration, Abnormal hemoglobin ORPHA:231249
Immunodeficiency 70
B lymphocytopenia, Decreased circulating total IgA, Celiac disease, Decreased circulating total I... OMIM:618969
Immunodeficiency 60 And Autoimmunity
Bronchiectasis, Decreased circulating IgA level, Decreased circulating IgG level, Perinuclear ant... OMIM:618394
Pemphigus Vulgaris, Familial
Autoimmunity, Autoimmune antibody positivity OMIM:169610
Immunodeficiency With Hyper-Igm, Type 3
Neutropenia, Decreased circulating IgA level, Impaired memory B cell generation, Decreased circul... OMIM:606843
B-Cell Expansion With Nfkb And T-Cell Anergy
Increased B cell count, Decreased specific antibody response to polysaccharide vaccine, Decreased... OMIM:616452
Histiocytosis, Familial Lipochrome
Increased circulating antibody level, Histiocytosis OMIM:235900
Autoimmune Lymphoproliferative Syndrome
Autoimmunity, Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, N... ORPHA:3261
Candidiasis, Familial, 2
Lymphadenopathy, Increased circulating IgE level, Chronic oral candidiasis, Hypereosinophilia OMIM:212050
Focal Segmental Glomerulosclerosis 1
Hypertension, Anemia, Hyperlipidemia, Hypoalbuminemia OMIM:603278
Agammaglobulinemia 8, Autosomal Dominant
B lymphocytopenia, Agammaglobulinemia, Recurrent otitis media OMIM:616941
Hepatic Venoocclusive Disease With Immunodeficiency
Abnormality of the liver, Decreased circulating IgG level, Absence of lymph node germinal center OMIM:235550
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Leukocytosis, Bloody diarrhea, Anemia, Ulcerative colitis OMIM:619398
Combined Cellular And Humoral Immune Defects With Granulomas
B lymphocytopenia, Decreased circulating IgG level, T lymphocytopenia OMIM:233650
Immunodeficiency, Common Variable, 6
Macroscopic hematuria, Hepatomegaly, Hydronephrosis, Decreased specific pneumococcal antibody lev... OMIM:613496
X-Linked Lymphoproliferative Disease
Myocarditis, Autoimmunity, Inflammation of the large intestine, Lymphadenopathy, Decreased circul... ORPHA:2442
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Leukemia, Monoclonal immunoglobulin M proteinemia, Impaired lymphocyte transformation with phytoh... OMIM:153600
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hepatomegaly, Hypocholesterolemia, Anemia, Splenomegaly, Hypersplenism, Thrombocytopenia OMIM:610539
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hepatomegaly, Hypochromia, Type II diabetes mellitus, Erythroid hyperplasia, Elevated hepatic iro... OMIM:616860
Autoinflammation With Arthritis And Dyskeratosis
Keratoconjunctivitis sicca, Hepatomegaly, Increased circulating IgA level, Antinuclear antibody p... OMIM:617388
Boutonneuse Fever
Leukopenia, Elevated hepatic transaminase, Lymphadenopathy, Increased circulating IgG level, Vasc... ORPHA:83313
Igg4-Related Aortitis
Aortic dissection, Abnormal aortic arch morphology, Ascending tubular aorta aneurysm, Autoimmunit... ORPHA:449400
Immunodeficiency, Common Variable, 3
Decreased proportion of class-switched memory B cells, Reduced isohemagglutinin level, Decreased ... OMIM:613493
Autoimmune Hepatitis
Inflammation of the large intestine, Splenomegaly, Diffuse hepatic steatosis, Gastrointestinal he... ORPHA:2137
Kimura Disease
Abnormal salivary gland morphology, Lymphadenopathy, Increased circulating IgE level, Eosinophili... ORPHA:482
Immunodeficiency, Common Variable, 1
B lymphocytopenia, Hepatomegaly, Decreased proportion of class-switched memory B cells, Pneumonia... OMIM:607594
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Eczema, Hypoplasia of the thymus, Reduced antigen-specific T cell proliferation, Reduced delayed ... OMIM:617241
Sting-Associated Vasculopathy, Infantile-Onset
Thrombocytosis, Telangiectasia, Pustule, Leukopenia, Myositis, Increased circulating IgA level, P... OMIM:615934
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Thrombocytosis, Neutropenia, Monocytosis, Congenital agranulocytosis, Anemia, Increased circulati... OMIM:202700
Combined Immunodeficiency Due To Dock8 Deficiency
Atopic dermatitis, B lymphocytopenia, Pneumonia, Chronic otitis media, Anal canal squamous carcin... ORPHA:217390
Immunodeficiency 86
Decreased circulating IgG level, Impaired oxidative burst, Increased circulating IgM level OMIM:619549
Immunodeficiency 37
Decreased circulating antibody level, Infectious encephalitis, Colitis, Decreased proportion of c... OMIM:616098
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Increased circulating IgA level, Thrombocytopenia, Glomerulonephritis OMIM:314000
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Anti-glutamic acid decarboxylase antibody positivity, Eczema, Neutropenia, Villous atrophy, Eryth... OMIM:304790
Hashimoto Thyroiditis
Hashimoto thyroiditis, Autoimmune antibody positivity OMIM:140300
Autoinflammation With Infantile Enterocolitis
Anemia, Splenomegaly, Reduced natural killer cell count, Increased circulating ferritin concentra... OMIM:616050
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Hepatomegaly, Decreased proportion of class-switched memory B cells, Decreased proportion of marg... OMIM:619375
Severe Combined Immunodeficiency, X-Linked
Hepatomegaly, Impaired lymphocyte transformation with phytohemagglutinin, Agammaglobulinemia, Pne... OMIM:300400
Caspase 8 Deficiency
Eczema, Pneumonia, Decreased circulating IgA level, Lymphadenopathy, Decreased circulating IgG le... OMIM:607271
Parenteral Nutrition-Associated Cholestasis
Hepatomegaly, Villous atrophy, Hepatic fibrosis, Abnormality of cytokine secretion, Cholelithiasi... ORPHA:567983
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hepatomegaly, Neutropenia, Lymphadenopathy, Anemia, Splenomegaly, Increased circulating ferritin ... OMIM:603552
Sitosterolemia 1
Stomatocytosis, Episodic hemolytic anemia, Elevated circulating sitosterol concentration, Splenom... OMIM:210250
Pgm3-Cdg
Lactose intolerance, Autoimmunity, Eczema, Neutropenia, Neutropenia in presence of anti-neutropil... ORPHA:443811
Immunoerythromyeloid Hypoplasia
Decreased circulating IgG level, Erythroid hypoplasia OMIM:242880
Immunodeficiency With Hyper-Igm, Type 1
Hepatomegaly, Neutropenia, Stomatitis, Decreased circulating IgA level, Chronic hepatitis, Impair... OMIM:308230
Mu-Heavy Chain Disease
Hepatomegaly, Abnormal B cell count, Lymphadenopathy, Weight loss, Bence Jones Proteinuria, Anemi... ORPHA:100024
Immunodeficiency 57 With Autoinflammation
B lymphocytopenia, Inflammation of the large intestine, Bronchiectasis, Decreased circulating ant... OMIM:618108
Immunodeficiency, Common Variable, 14
Psoriasiform dermatitis, Decreased proportion of class-switched memory B cells, Decreased specifi... OMIM:617765
Leishmaniasis
Hepatomegaly, Leukopenia, Lymphadenopathy, Anemia, Splenomegaly, Abnormal macrophage morphology, ... ORPHA:507
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Hemolytic anemia, B lymphocytopenia, Eczema, Psoriasiform dermatitis, Villous atrophy, Erythroder... OMIM:606367
Persistent Polyclonal B-Cell Lymphocytosis
Hepatomegaly, Lymphocytosis, Decreased circulating total IgM, Splenomegaly OMIM:606445
Cernunnos-Xlf Deficiency
B lymphocytopenia, Autoimmunity, Decreased circulating antibody level, Anemia, Lymphopenia, Throm... ORPHA:169079
Immunodeficiency 76
B lymphocytopenia, Colitis, Splenomegaly, Chronic diarrhea, Recurrent pneumonia, Lymphopenia, T l... OMIM:619164
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Sinusitis, B lymphocytopenia, Hepatomegaly, Pneumonia, Decreased circulating IgA level, Reduced r... OMIM:102700
Simple Cryoglobulinemia
Rheumatoid factor positive, Raynaud phenomenon, Mesangial hypercellularity, Gastrointestinal hemo... ORPHA:91139
Macrophage Activation Syndrome
Hepatomegaly, Neutropenia, Lymphadenopathy, Hepatitis, Anemia, Splenomegaly, Increased circulatin... ORPHA:158061
Immunodeficiency With Hyper-Igm, Type 5
Decreased circulating IgA level, Lymphadenopathy, Decreased circulating IgG level, Epididymitis, ... OMIM:608106
Masp2 Deficiency
Complement deficiency, Systemic lupus erythematosus, Recurrent pneumonia, Ulcerative colitis OMIM:613791
Tn Polyagglutination Syndrome
Autoimmunity OMIM:300622
Immunodeficiency 85 And Autoimmunity
Eczema, Tube feeding, Erythroderma, Villous atrophy, Vomiting, Decreased circulating IgA level, O... OMIM:619510
Adult Idiopathic Neutropenia
Neutropenia, Helicobacter pylori infection, Monocytosis, Increased circulating IgM level, Lymphop... ORPHA:2688
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Leukocytosis, Increased proportion of CD4-positive T cells, Increased circulating IgA level, Lymp... OMIM:617099
Neutropenia, Chronic Familial
Periodontitis, Increased circulating antibody level, Neutropenia OMIM:162700
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
B lymphocytopenia, Decreased circulating IgG level, Abnormally low T cell receptor excision circl... OMIM:618987
Diamond-Blackfan Anemia 19
Anemia, Steroid-responsive anemia, Erythroid hypoplasia OMIM:618312
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Neutropenia, Leukopenia, Failure to thrive, Anemia, Splenomegaly, Increased circula... OMIM:615285
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Decreased proportion of CD3-positive T cells, Jaundice, Absent tonsils, Lymph node hypoplasia, Re... ORPHA:276
Immunodeficiency, Common Variable, 2
Conjunctivitis, Hepatomegaly, Autoimmunity, Impaired T cell function, Decreased circulating IgA l... OMIM:240500
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Atopic dermatitis, B lymphocytopenia, Sinusitis, Decreased specific antibody response to polysacc... ORPHA:70593
Hemangioma-Thrombocytopenia Syndrome
Hyperkalemia, Thrombocytopenia, Microangiopathic hemolytic anemia, Ventricular arrhythmia OMIM:141000
C3 Glomerulopathy
Autoimmunity, C3 nephritic factor positivity, Nephrotic syndrome, Decreased serum complement C4, ... ORPHA:329918
Q Fever
Myocarditis, Thrombocytopenia, Lymphadenopathy, Hepatitis, Rheumatoid factor positive, Splenomega... ORPHA:781
Common Variable Immunodeficiency
Gastrointestinal stroma tumor, Pneumonia, Bronchiectasis, Lymphadenopathy, Chronic otitis media, ... ORPHA:1572
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hyponatremia, Hypoproteinemia, Decreased HDL cholesterol concentration, Hepatomegaly, Leukopenia,... OMIM:267700
Lymphoproliferative Syndrome, X-Linked, 2
Inflammation of the large intestine, Folliculitis, Colitis, Hepatitis, Acne, Decreased circulatin... OMIM:300635
Immunodeficiency 48
Hepatomegaly, Eczematoid dermatitis, Pneumonia, Splenomegaly, Panhypogammaglobulinemia OMIM:269840
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
Decreased circulating IgG level, T lymphocytopenia OMIM:242870
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Hepatomegaly, Eczema, Psoriasiform dermatitis, Bronchiectasis, Decreased circulating IgA level, L... OMIM:616100
Iga Pemphigus
Pustule, Increased circulating IgA level, Neutrophilic infiltration of the skin, Autoimmune antib... ORPHA:555905
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hepatomegaly, Hypochromia, Anemia, Splenomegaly, Poikilocytosis, Decreased mean corpuscular volum... OMIM:615234
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Lymphadenopathy, Anemia, Splenomegaly, Increased circulating ferritin concentration, Hepatospleno... OMIM:613101
Bleeding Disorder, Platelet-Type, 16
Anemia, Giant platelets, Thrombocytopenia, Macrothrombocytopenia, Platelet anisocytosis, Impaired... OMIM:187800
Autoinflammatory Syndrome, Familial, Behcet-Like
Colitis, Anterior uveitis, Lymphopenia, Skin rash, Ileal ulcer, Lupus anticoagulant, Thrombocytop... OMIM:616744
Anemia, Congenital Dyserythropoietic, Type Ib
Hepatomegaly, Erythroid hyperplasia, Anemia, Splenomegaly, Anisocytosis, Poikilocytosis, Reticulo... OMIM:615631
Iron-Refractory Iron Deficiency Anemia
Anisocytosis, Poikilocytosis, Hypochromic microcytic anemia, Elevated hepcidin level OMIM:206200
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Leukocytosis, Unconjugated hyperbilirubinemia, Prolonged neonatal jaundice, Decreased glucose-6-p... OMIM:300908
Immunodeficiency, Common Variable, 7
Decreased specific pneumococcal antibody level, Decreased circulating total IgG, Reduced isohemag... OMIM:614699
Thrombocytopenia 2
Leukocytosis, Thrombocytopenia OMIM:188000
Immunodeficiency 52
Bronchiectasis, Coombs-positive hemolytic anemia, Increased proportion of gamma-delta T cells, Ly... OMIM:617514
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Neutrophil inclusion bodies, Epistaxis, Leukocyte inclusion bodies, Myocardial infarction, Giant ... OMIM:155100
Triokinase And Fmn Cyclase Deficiency Syndrome
Dilated cardiomyopathy, Hepatomegaly, Pancreatitis, Hepatic steatosis, Microcytic anemia, Hypoalb... OMIM:618805
Transcobalamin Deficiency
Neutropenia, Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulat... ORPHA:859
C1Q Deficiency
Autoimmunity, Systemic lupus erythematosus, Decreased serum complement factor I, Membranoprolifer... OMIM:613652
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant
Eczematoid dermatitis, High palate, Chronic mucocutaneous candidiasis, Increased circulating IgE ... OMIM:147060
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Mediastinal lymphadenopathy, Decreased CD69 upregulation upon TCR activation, Bronchiectasis, Lym... OMIM:300853
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Hepatomegaly, Autoimmunity, Abnormal B cell count, Decreased circulating IgA level, Lymphadenitis... ORPHA:331206
Platelet Glycoprotein Iv Deficiency
Thrombocytopenia, Giant platelets OMIM:608404
Bleeding Disorder, Platelet-Type, 24
Impaired epinephrine-induced platelet aggregation, Increased mean platelet volume, Impaired arach... OMIM:619271
Hyper-Ige Recurrent Infection Syndrome 4B, Autosomal Recessive
Eczema, Bronchiectasis, Macroglossia, Recurrent otitis media, Keratitis, Increased circulating Ig... OMIM:618523
Sebastian syndrome
Neutrophil inclusion bodies, Epistaxis, Leukocyte inclusion bodies, Giant platelets, Thrombocytop... OMIM:605249
Immunodeficiency 23
Eczema, High palate, Neutropenia, Allergic rhinitis, Bronchiectasis, Aortic root aneurysm, Absces... OMIM:615816
Immunodeficiency 91 And Hyperinflammation
Hepatomegaly, Monocytosis, Lymphadenopathy, Pulmonary hemorrhage, Neutrophilia, Hepatosplenomegal... OMIM:619644
Immunodeficiency 50
Eczema, Decreased circulating antibody level, Neutropenia, Lymphopenia OMIM:300988
Bleeding Disorder, Platelet-Type, 15
Thrombocytopenia, Epistaxis, Increased mean platelet volume, Platelet anisocytosis OMIM:615193
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction
Left superior vena cava draining directly to the left atrium, Elevated circulating alanine aminot... OMIM:613759
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Eczema, Leukopenia, Monocytosis, Refractory anemia, Systemic lupus erythematosus, Bone marrow hyp... OMIM:616871
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Anti-thyroid peroxidase antibody positivity, Autoimmunity, Abnormal intestine morphology, Eczema,... ORPHA:37042
Eosinophilic Gastroenteritis
Leukocytosis, Ascites, Anemia, Steatorrhea, Hypoalbuminemia, Eosinophilia, Elevated circulating C... ORPHA:2070
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Dilated cardiomyopathy, Eczema, Esophageal varix, Lymphadenopathy, Decreased circulating antibody... OMIM:615688
Macrothrombocytopenia and progressive sensorineural deafness
Thrombocytopenia, Macrothrombocytopenia, Giant platelets OMIM:600208
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hepatic steatosis, Hepatosplenomegaly, Microcytic anemia, Hypertriglyceridemia, Hypoalbuminemia OMIM:619013
Hepatoportal Sclerosis
Leukopenia, Hepatocellular carcinoma, Ascites, Anemia, Hyperbilirubinemia, Nodular regenerative h... ORPHA:64743
Immunodeficiency 92
Leukocytosis, B lymphocytopenia, Decreased proportion of class-switched memory B cells, Thrombocy... OMIM:619652
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Thrombocytosis, Macrocytic anemia, Leukopenia, Bone marrow hypocellularity, Erythroid hypoplasia,... ORPHA:86841
Autosomal Recessive Polycystic Kidney Disease
Abnormality of the intrahepatic bile duct, Cholangitis, Cholangiocarcinoma, Esophageal varix, Spl... ORPHA:731
Malaria
Thrombocytopenia, Elevated circulating C-reactive protein concentration, Anemia, Hyperbilirubinemia ORPHA:673
Hyper-Igd Syndrome
Leukocytosis, Increased circulating IgA level, Lymphadenopathy, Lymphadenitis, Chronic oral candi... OMIM:260920
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Abnormality of the intrahepatic bile duct, Inflammation of the large intestine, Interlobular bile... ORPHA:562639
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
B lymphocytopenia, Pneumonia, Arthritis, Otitis media, Panhypogammaglobulinemia, Diarrhea, T lymp... OMIM:601457
Refractory Anemia With Excess Blasts
Leukocytosis, Retinal hemorrhage, Palpitations, Abnormal mean corpuscular volume, Bone marrow hyp... ORPHA:86839
Agammaglobulinemia 1, Autosomal Recessive
Sinusitis, B lymphocytopenia, Agammaglobulinemia, Neutropenia, Pneumonia, Bronchiectasis, Recurre... OMIM:601495
Complement Component 3 Deficiency, Autosomal Recessive
Nephrotic syndrome, Systemic lupus erythematosus, Decreased serum complement C3, Membranoprolifer... OMIM:613779
Hyperimmunoglobulinemia D With Periodic Fever
Hepatomegaly, Peritonitis, Increased circulating IgA level, Lymphadenopathy, Arthritis, Intestina... ORPHA:343
Giant platelet syndrome with thrombocytopenia
Thrombocytopenia, Gastrointestinal hemorrhage, Giant platelets OMIM:137560
Nephrotic Syndrome, Type 7
Nephrotic syndrome, Hemolytic-uremic syndrome, Stage 5 chronic kidney disease, Acute kidney injur... OMIM:615008
Thymoma
Autoimmunity, Imbalanced hemoglobin synthesis, Abnormal lymphocyte proliferation, Anti-acetylchol... ORPHA:99867
Cystic Echinococcosis
Hepatomegaly, Splenic cyst, Peritoneal abscess, Biliary tract obstruction, Abscess, Hepatic cysts... ORPHA:400
Congenital Dyserythropoietic Anemia Type Iii
Increased serum iron, Increased mean corpuscular volume, Anemia, Hyperbilirubinemia, Melena, Anis... ORPHA:98870
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hyponatremia, Hypoproteinemia, Hepatomegaly, Leukopenia, Lymphadenopathy, Anemia, Increased total... OMIM:603553
Igg4-Related Kidney Disease
Tubulointerstitial nephritis, Lymphadenopathy, Rheumatoid factor positive, Chronic kidney disease... ORPHA:449395
Transient Erythroblastopenia Of Childhood
Transient erythroblastopenia, Anemia OMIM:227050
Idiopathic Chronic Eosinophilic Pneumonia
Atopic dermatitis, Leukocytosis, Autoimmunity, Increased circulating IgE level, Hypereosinophilia... ORPHA:2902
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal platelet function, Anemia, Abnormal hemoglobin, Splenomegaly, Thrombocytopenia ORPHA:231393
Fetal Cytomegalovirus Syndrome
Hepatomegaly, Anemia, Splenomegaly ORPHA:294
Wiskott-Aldrich Syndrome, Autosomal Dominant
Absent microvilli on the surface of peripheral blood lymphocytes, Sinusitis, Eczema, Inflammation... OMIM:600903
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
B lymphocytopenia, Neutropenia, Leukopenia, Partial absence of specific antibody response to Haem... OMIM:618986
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency
Shock, Hypoproteinemia, Neutropenia, Hypoalbuminemia OMIM:600351
Congenital Disorder Of Glycosylation, Type Ih
Hepatomegaly, Ascites, Anemia, Cholestasis, Hypoalbuminemia, Thrombocytopenia OMIM:608104
Waldenström Macroglobulinemia
Hepatomegaly, Normocytic anemia, Cryoglobulinemia, Leukemia, Monoclonal immunoglobulin M proteine... ORPHA:33226
Familial Hemophagocytic Lymphohistiocytosis
Neutropenia, Lymphadenopathy, Abnormal renal physiology, Decreased circulating antibody level, Sp... ORPHA:540
Anemia, Congenital Dyserythropoietic, Type Ia
Prolonged neonatal jaundice, Erythroid hyperplasia, Splenomegaly, Anisocytosis, Poikilocytosis, R... OMIM:224120
Thrombocytopenic Purpura, Autoimmune
Thrombocytopenia OMIM:188030
Benign Cephalic Histiocytosis
Inflammatory abnormality of the skin, Skin rash, Histiocytosis ORPHA:157997
Lymphoid System Deterioration, Progressive
Abnormal T cell morphology, Decreased circulating IgG level, Lymphopenia, Decreased circulating t... OMIM:247630
Myh9-Related Disease
Neutrophil inclusion bodies, Increased mean platelet volume, Spontaneous, recurrent epistaxis, My... ORPHA:182050
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Hypochromic anemia, Anisocytosis, Poikilocytosis, Macrothrombocytopenia, Anemia of inadequate pro... ORPHA:67044
Cryoglobulinemic Vasculitis
Keratoconjunctivitis sicca, Hepatomegaly, Mediastinal lymphadenopathy, Gastrointestinal infarctio... ORPHA:91138
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Decreased circulating total IgA, Erythroderma, Pneumonia, Decreased circulating IgG level, Decrea... ORPHA:169160
Refractory Celiac Disease
Macrocytic anemia, Hypoproteinemia, Normocytic anemia, Iron deficiency anemia, Hypophosphatemia, ... ORPHA:398063
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Pyloric stenosis, B lymphocytopenia, Hepatomegaly, Cleft palate, Pancreatic hypoplasia, Eczema, S... ORPHA:83617
Mucopolysaccharidosis-Plus Syndrome
Hypertrophic cardiomyopathy, Hepatomegaly, Focal segmental glomerulosclerosis, Renal tubular atro... OMIM:617303
Lymphoproliferative Syndrome 3
Lymphadenopathy, Decreased circulating antibody level, Reduced natural killer cell count, Hepatos... OMIM:618261
Immunodeficiency 84
B lymphocytopenia, Perianal abscess, Splenomegaly OMIM:619437
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Hypoplasia of the thymus, Agammaglobulinemia, Lymphopenia OMIM:200900
Netherton Syndrome
Abnormal intestine morphology, Allergic rhinitis, Villous atrophy, Erythroderma, Decreased circul... OMIM:256500
Alpha-Heavy Chain Disease
Hepatomegaly, Abnormality of the small intestine, Ascites, Lymphadenopathy, Anemia, Malabsorption... ORPHA:100025
Idiopathic Non-Lupus Full-House Nephropathy
Abnormal glomerular mesangium morphology, Synovitis, Nephrotic syndrome, Decreased serum compleme... ORPHA:567544
Histiocytosis, Progressive Mucinous
Mucinous histiocytosis OMIM:142630
Congenital Enterovirus Infection
Fetal ascites, Leukocytosis, Myocarditis, Neutropenia, Leukopenia, Hepatitis, Anemia, Cardiomyopa... ORPHA:292
Anemia, Hypochromic Microcytic, With Iron Overload 1
Abnormality of the liver, Decreased mean corpuscular volume, Hypochromia, Anemia OMIM:206100
Asthma, Short Stature, And Elevated Iga
Increased circulating IgA level OMIM:208600
Immunodeficiency, Common Variable, 13
Pancytopenia, B lymphocytopenia, Acute lymphoblastic leukemia, Decreased circulating antibody level OMIM:616873
Igg4-Related Submandibular Gland Disease
Abnormal salivary gland morphology, Cholangitis, Autoimmunity, Prostatitis, Lymphadenopathy, Xero... ORPHA:449432
Wiskott-Aldrich Syndrome
Impaired lymphocyte transformation with phytohemagglutinin, Inflammation of the large intestine, ... OMIM:301000
Axonal Polyneuropathy Associated With Igg/Igm/Iga Monoclonal Gammopathy
Monoclonal immunoglobulin M proteinemia, Cryoglobulinemia ORPHA:209004
Immunodeficiency With Hyper-Igm, Type 2
Recurrent infection of the gastrointestinal tract, Decreased circulating IgA level, Lymphadenopat... OMIM:605258
Slc35A1-Cdg
Neutropenia, Pulmonary hemorrhage, Abnormal platelet granules, Giant platelets, Thrombocytopenia ORPHA:238459
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hepatomegaly, Hepatocellular necrosis, Hypoglycemia, Ascites, Depletion of mitochondrial DNA in l... OMIM:251880
Ige Responsiveness, Atopic
Increased circulating IgE level, Eczema, Allergic rhinitis OMIM:147050
Immunodeficiency 15A
Recurrent otitis media, Acne inversa, Chronic mucocutaneous candidiasis, Decreased proportion of ... OMIM:618204
Immunodeficiency 69
Thrombocytosis, Leukocytosis, Anemia, Splenomegaly, Increased circulating ferritin concentration,... OMIM:618963
Immunodeficiency 47
Decreased circulating antibody level, Splenomegaly, Accessory spleen, Decreased circulating total... OMIM:300972
Chilblain Lupus
Inflammatory abnormality of the skin, Discoid lupus rash, Chronic myelomonocytic leukemia, System... ORPHA:90280
Rh Deficiency Syndrome
Hemolytic anemia, Macrocytic anemia, Reduced haptoglobin level, Hypochromia, Stomatocytosis, Hype... ORPHA:71275
Retinal Telangiectasia And Hypogammaglobulinemia
Reduced delayed hypersensitivity, Decreased circulating IgG level, Retinal telangiectasia OMIM:267900
Immunodeficiency 67
Increased circulating IgE level, Transient neutropenia, Liver abscess OMIM:607676
Immunodeficiency 18
Decreased proportion of CD3-positive T cells, Lymphopenia OMIM:615615
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia
Thrombocytopenia OMIM:124900
Congenital Amegakaryocytic Thrombocytopenia
Thrombocytopenia, Anemia, Abnormal hemoglobin ORPHA:3319
Primary Biliary Cholangitis
Abnormality of the intrahepatic bile duct, Autoimmunity, Hepatic fibrosis, Hepatocellular carcino... ORPHA:186
Fechtner syndrome
Thrombocytopenia, Neutrophil inclusion bodies, Giant platelets, Leukocyte inclusion bodies OMIM:153640
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Sinusitis, Pneumonia, Bronchiectasis, Decreased circulating IgA level, Macroglossia, Malabsorptio... OMIM:242860
Bernard-Soulier Syndrome
Epistaxis, Impaired ristocetin-induced platelet aggregation, Gastrointestinal hemorrhage, Giant p... OMIM:231200
Idiopathic Pulmonary Hemosiderosis
Hepatomegaly, Failure to thrive, Antineutrophil antibody positivity, Iron deficiency anemia, Card... ORPHA:99931
X-Linked Sideroblastic Anemia
Glucose intolerance, Abnormality of iron homeostasis, Anemia, Splenomegaly ORPHA:75563
Immunodeficiency, Common Variable, 8, With Autoimmunity
Inflammation of the large intestine, Lymphadenopathy, Splenomegaly, Uveitis, Decreased circulatin... OMIM:614700
Lymphoproliferative Syndrome 1
Hepatomegaly, Autoimmunity, Leukopenia, Stomatitis, Lymphadenopathy, Decreased circulating IgG le... OMIM:613011
Multiple Myeloma
Nephrotic syndrome, Increased circulating IgA level, Lymphadenopathy, Weight loss, Decreased circ... ORPHA:29073
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Acute lymphoblastic leukemia, Neutropenia, Hepatocellular carcinoma, Anemia, Hyperbilirubinemia, ... ORPHA:158057
Autoimmune Hemolytic Anemia, Cold Type
Pallor, Hemolytic anemia, Abnormal leukocyte morphology, Splenomegaly ORPHA:228312
Hemochromatosis, Type 2B
Increased serum iron, Hepatomegaly, Hepatic fibrosis, Anemia, Elevated transferrin saturation, Ca... OMIM:613313
Brucellosis
Myocarditis, Lymphadenopathy, Knee osteoarthritis, Rheumatoid factor positive, Septic arthritis, ... ORPHA:1304
Neutropenia, Severe Congenital, 2, Autosomal Dominant
B lymphocytopenia, Neutropenia, Monocytosis OMIM:613107
Thrombocytopenia 4
Thrombocytopenia OMIM:612004
Thrombocytopenia, Cyclic
Thrombocytopenia, Neutropenia, Cyclic neutropenia OMIM:188020
Nephrotic Syndrome, Type 14
Hypoalbuminemia, Hypoglycemia, Lymphopenia, Hypertriglyceridemia OMIM:617575
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Macrocytic anemia, Neutropenia, Abnormal reticulocyte morphology, Abnormal platelet morphology, A... OMIM:300835
Neutropenia-Monocytopenia-Deafness Syndrome
Abnormal macrophage morphology, Abnormality of neutrophils ORPHA:2690
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Glycogen Storage Disease Due To Aldolase A Deficiency
Hyperkalemia, Hemolytic anemia, Arrhythmia, Elevated creatine kinase after exercise ORPHA:57
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Autoimmunity, Lymphadenopathy, Systemic lupus erythematosus, Hepatitis, Recurrent otitis media, S... ORPHA:444463
Deafness, Neural, With Atypical Atopic Dermatitis
Late onset atopic dermatitis, Increased circulating IgE level OMIM:221700
Beta-Thalassemia
Hypertrophic cardiomyopathy, Hepatomegaly, Abnormality of iron homeostasis, Hepatitis, Anemia, Ab... ORPHA:848
Atypical Hemolytic Uremic Syndrome
Microangiopathic hemolytic anemia, Abnormality of complement system, Hematuria, Decreased serum c... ORPHA:2134
Immunodeficiency 8
Lymphopenia OMIM:615401
Papular Xanthoma
Histiocytosis ORPHA:158008
Hemochromatosis, Type 4
Hepatomegaly, Glucose intolerance, Impaired glucose tolerance, Anemia, Elevated transferrin satur... OMIM:606069
Hyperimmunoglobulin G1(A1) Syndrome
Increased circulating IgA level, Increased circulating IgG level OMIM:144120
Macrothrombocytopenia, Autosomal Dominant, Tubb1-Related
Macrothrombocytopenia OMIM:613112
Schimke Immuno-Osseous Dysplasia
Decreased proportion of naive CD8 T cells, Abnormal intestine morphology, Autoimmunity, Neutropen... ORPHA:1830
Combined Immunodeficiency, X-Linked
Sinusitis, Pneumonia, Decreased circulating IgG level, Otitis media, Decreased proportion of CD4-... OMIM:312863
Systemic Lupus Erythematosus
Lupus nephritis, Pericarditis, Leukopenia, Systemic lupus erythematosus, Nephritis, Arthritis, Ma... OMIM:152700
Aspergillosis
Sinusitis, Intracranial hemorrhage, Neutropenia, Infectious encephalitis, Pneumonia, Bronchiectas... ORPHA:1163
Angiostrongyliasis
Increased circulating IgA level, Increased circulating IgG level, Increased circulating specific ... ORPHA:74
Palmoplantar Keratoderma, Epidermolytic
Increased circulating IgE level OMIM:144200
Eosinophilia, Familial
Leukocytosis, Eosinophilia, Anemia, Thrombocytopenia OMIM:131400
Immunodeficiency 40
Lymphopenia OMIM:616433
Hemophagocytic Lymphohistiocytosis, Familial, 3
Anemia, Hepatosplenomegaly, Hypertriglyceridemia, Granulocytopenia, Hemophagocytosis OMIM:608898
Dominant Beta-Thalassemia
Dilated cardiomyopathy, Abnormality of iron homeostasis, Hypochromic microcytic anemia, Hepatic f... ORPHA:231226
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Thrombocytosis, Hypoproteinemia, Hepatomegaly, Ascites, Budd-Chiari syndrome, Iron deficiency ane... OMIM:226300
Hemoglobin H Disease
Hepatomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin, Splenomegaly, Hemolytic anemia OMIM:613978
Complement Component 4A Deficiency
Decreased serum complement C4, Reduced hemolytic complement activity, Glomerulonephritis, Systemi... OMIM:614380
Immunodeficiency 33
Increased circulating IgA level, Decreased circulating total IgM OMIM:300636
X-Linked Sideroblastic Anemia And Spinocerebellar Ataxia
Anemia, Intrauterine growth retardation ORPHA:2802
Lymphangiectasia, Intestinal
Intestinal lymphangiectasia, Decreased circulating IgG level, Malabsorption, Lymphopenia OMIM:152800
Immunodeficiency 35
Increased circulating IgE level OMIM:611521
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Anisocytosis, Poikilocytosis, Oval macrocytosis, Anemia of inadequate production OMIM:603529
Polyneuropathy Associated With Igm Monoclonal Gammapathy With Anti-Mag
Monoclonal immunoglobulin M proteinemia ORPHA:639
Bleeding Disorder, Platelet-Type, 9
Thrombocytopenia OMIM:614200
Primary Sclerosing Cholangitis
Autoimmunity, Neoplasm of the gallbladder, Cholangiocarcinoma, Hepatitis, Splenomegaly, Hepatospl... ORPHA:171
Primary Intestinal Lymphangiectasia
Hypoproteinemia, Ascites, Abnormal lymphatic vessel morphology, Anemia, Hypocalcemia, Reduced pro... ORPHA:90362
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Hyperkalemia, Hepatomegaly, Splenomegaly, Hemolytic anemia, Jaundice OMIM:608885
Immunoglobulin A Deficiency 1
Recurrent infection of the gastrointestinal tract, Autoimmunity, Decreased circulating IgA level,... OMIM:137100
Subacute Inflammatory Demyelinating Polyneuropathy
Leukocytosis, Increased circulating IgG level ORPHA:206594
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
Wolcott-Rallison Syndrome
Hyponatremia, Hepatomegaly, Neutropenia, Ascites, Iron deficiency anemia, Hyperbilirubinemia, Hyp... ORPHA:1667
Postinfectious Vasculitis
Rheumatoid factor positive, Raynaud phenomenon, Vascular dilatation, Inflammatory abnormality of ... ORPHA:48435
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypercholesterolemia, Hypoalbuminemia OMIM:607250
Acquired Partial Lipodystrophy
Autoimmunity, Hepatic steatosis, Microscopic hematuria, Lymphocytosis, Decreased serum complement... ORPHA:79087
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Autoimmunity, Decreased circulating IgA level, Chronic oral candidiasis, Decreased circulating Ig... ORPHA:275
Chronic Myeloid Leukemia
Thrombocytosis, Abnormal basophil morphology, Leukocytosis, Abnormal granulocyte morphology, Sple... ORPHA:521
Majeed Syndrome
Inflammatory abnormality of the skin, Leukocytosis, Cachexia, Hepatomegaly, Abnormal inflammatory... ORPHA:77297
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Hepatomegaly, Neutropenia, Leukopenia, Monocytosis, Mitral regurgitation, Hypoplasia of the thymu... OMIM:612541
Insulin-Resistance Syndrome Type B
Autoimmunity, Abnormality of body weight, Enlarged ovaries, Decreased body weight, Enlarged polyc... ORPHA:2298
Acquired Idiopathic Sideroblastic Anemia
Hepatomegaly, Leukocytosis, Thrombocytosis, Neutropenia, Normocytic anemia, Megaloblastic erythro... ORPHA:75564
Insulin Autoimmune Syndrome
Autoimmunity, Arthralgia/arthritis, Weight loss, Systemic lupus erythematosus, Autoimmune antibod... ORPHA:411593
Hemochromatosis, Type 3
Increased serum iron, Neutropenia, Anemia, Elevated transferrin saturation, Cardiomyopathy, Cirrh... OMIM:604250
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Absent tonsils, Decreased circulating IgA level, Decreased circulating IgG level, Abnormality of ... OMIM:611926
Dyskeratosis Congenita, Autosomal Recessive 5
Leukopenia, Decreased circulating antibody level, Bone marrow hypocellularity, Esophageal stenosi... OMIM:615190
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Amegakaryocytic thrombocytopenia ORPHA:71289
Hypertriglyceridemia, Transient Infantile
Hepatomegaly, Hepatic fibrosis, Splenomegaly, Hepatic steatosis, Elevated hepatic transaminase OMIM:614480
Ataxia-Pancytopenia Syndrome
Hypoplastic anemia, Abnormal platelet function, Acute myelomonocytic leukemia, Decreased circulat... ORPHA:2585
Acute Myelomonocytic Leukemia
Leukocytosis, Anemia, Thrombocytopenia, Eosinophilia, Pallor ORPHA:517
Anemia, Congenital Dyserythropoietic, Type Iv
Hypertrophic cardiomyopathy, Hepatomegaly, Erythroid hyperplasia, Anemia, Hyperbilirubinemia, Spl... OMIM:613673
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Purine Nucleoside Phosphorylase Deficiency
Sinusitis, Pneumonia, Neutropenia in presence of anti-neutropil antibodies, Impaired T cell funct... OMIM:613179
Pa Polymorphism Of Alpha-2-Globulin
Abnormal immunoglobulin level OMIM:260100
Mantle Cell Lymphoma
Lymphadenopathy, Weight loss, Splenomegaly ORPHA:52416
Primary Sjögren Syndrome
Tubulointerstitial nephritis, Lymphadenopathy, Normochromic anemia, Decreased circulating antibod... ORPHA:289390
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant
Increased circulating IgE level, Eczema, Thyroiditis, Celiac disease OMIM:618985
Fanconi Anemia, Complementation Group V
Neutropenia, Anemia, Bone marrow hypocellularity, Elevated alpha-fetoprotein, Thrombocytopenia OMIM:617243
Hypocomplementemic Urticarial Vasculitis
Hepatomegaly, Autoimmunity, Glomerulopathy, Episcleritis, Ascites, Lymphadenopathy, Hematuria, Ar... ORPHA:36412
Omenn Syndrome
B lymphocytopenia, Hypoproteinemia, Hepatomegaly, Lymphadenopathy, Hypoplasia of the thymus, Anem... OMIM:603554
Niemann-Pick Disease, Type B
Hepatomegaly, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentration, B... OMIM:607616
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Microvesicular hepatic steatosis, Hypoglycemia, Ascites, Cirrhosis, Cholestasis, Hypoalbuminemia,... OMIM:617156
Hyperbilirubinemia, Shunt, Primary
Hepatomegaly, Erythroid hyperplasia, Hyperbilirubinemia, Splenomegaly, Jaundice, Reticulocytosis,... OMIM:237800
Tularemia
Brain abscess, Leukocytosis, Mediastinal lymphadenopathy, Pneumonia, Lymphadenopathy, Anemia, Tac... ORPHA:3392
Erythroleukemia, Familial, Susceptibility To
Hepatomegaly, Erythroid hyperplasia, Leukemia, Anemia, Splenomegaly, Acute myeloid leukemia, Thro... OMIM:133180
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Neutropenia, Decreased circulating total IgM OMIM:610798
Agammaglobulinemia 7, Autosomal Recessive
Agammaglobulinemia, Neutropenia OMIM:615214
Lysosomal Acid Lipase Deficiency
Esophageal varix, Bone-marrow foam cells, Splenomegaly, Hypersplenism, Hepatosplenomegaly, Steato... OMIM:278000
Combined Immunodeficiency Due To Partial Rag1 Deficiency
B lymphocytopenia, Autoimmunity, Interstitial pneumonitis, Neutropenia in presence of anti-neutro... ORPHA:231154
Beta-Thalassemia, Dominant Inclusion Body Type
Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Microcytic anemia, Erythrocyte inclusion... OMIM:603902
Reticular Dysgenesis
Leukopenia, Failure to thrive, Chronic otitis media, Weight loss, Decreased circulating antibody ... ORPHA:33355
Diarrhea 7, Protein-Losing Enteropathy Type
Hypercholesterolemia, Hyperlipidemia, Hypoalbuminemia OMIM:615863
Polycythemia Vera
Cerebral hemorrhage, Thrombocytosis, Leukocytosis, Increased red blood cell mass, Budd-Chiari syn... OMIM:263300
Analbuminemia
Elevated circulating transferrin concentration, Increased LDL cholesterol concentration, Hypercho... OMIM:616000
Preeclampsia/Eclampsia 1
Thrombocytopenia, Hypertension OMIM:189800
Lymphoproliferative Syndrome 2
Hepatomegaly, Ascites, Lymphadenopathy, Decreased circulating antibody level, Decreased lymphocyt... OMIM:615122
Pelger-Huet Anomaly
Neutropenia, Hyposegmentation of neutrophil nuclei, Giant platelets, Thrombocytopenia, Abnormalit... OMIM:169400
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypergalactosemia, Hyperammonemia, Hepatosplenomegaly, Hyperthreoninemia, Gastrointestinal hemorr... ORPHA:247598
Sea-Blue Histiocyte Disease
Cirrhosis, Thrombocytopenia, Sea-blue histiocytosis, Splenomegaly OMIM:269600
Pancytopenia And Occlusive Vascular Disease
Pancytopenia, Thrombocytopenia, Anemia, Leukopenia OMIM:167850
Coccidioidomycosis
Lymphadenopathy, Vasospasm, Cerebral ischemia, Vasculitis, Eosinophilia, Morbilliform rash, Abnor... ORPHA:228123
Proteasome-Associated Autoinflammatory Syndrome 2
Lymphadenopathy, Thrombocytopenia, Increased circulating antibody level, Skin rash OMIM:618048
Dystrophic Epidermolysis Bullosa Pruriginosa
Increased circulating IgE level ORPHA:89843
Systemic Lupus Erythematosus 16
Systemic lupus erythematosus OMIM:614420
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Recurrent infection of the gastrointestinal tract, B lymphocytopenia, Impaired lymphocyte transfo... ORPHA:35078
Immunodeficiency, Common Variable, 5
Chronic decreased circulating total IgG, Antinuclear antibody positivity OMIM:613495
Thrombotic Thrombocytopenic Purpura
Microangiopathic hemolytic anemia, Decreased serum creatinine, Myocardial infarction, Reticulocyt... ORPHA:54057
Syndromic Diarrhea
Thrombocytosis, Hepatomegaly, Increased mean platelet volume, Villous atrophy, Hepatic fibrosis, ... ORPHA:84064
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Thrombocytopenia, Hypertension OMIM:166990
Familial Pseudohyperkalemia
Hyperkalemia, Hypertension, Increased mean corpuscular volume, Stomatocytosis, Episodic hemolytic... ORPHA:90044
Igg4-Related Dacryoadenitis And Sialadenitis
Abnormal salivary gland morphology, Autoimmunity, Keratoconjunctivitis sicca, Tubulointerstitial ... ORPHA:79078
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Increased mean platelet volume, Stomatocytosis, Epistaxis, Splenomegaly, Hemolytic anemia OMIM:153670
Congenital Disorder Of Glycosylation, Type Iir
Hypospadias, Hepatomegaly, Ascites, Decreased circulating antibody level, Micronodular cirrhosis,... OMIM:301045
Agammaglobulinemia 3, Autosomal Recessive
Diarrhea, Agammaglobulinemia, Recurrent otitis media, Neutropenia OMIM:613501
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypercholesterolemia, Hypoalbuminemia ORPHA:94124
Breath-Holding Spells
Iron deficiency anemia, Pallor OMIM:607578
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Increased circulating IgE level ORPHA:1858
Retinitis Pigmentosa And Erythrocytic Microcytosis
Anemia, Decreased serum iron, Anisocytosis, Poikilocytosis, Decreased mean corpuscular volume, El... OMIM:616959
Overhydrated Hereditary Stomatocytosis
Stomatocytosis, Abnormal mean corpuscular volume, Splenomegaly, Anisocytosis, Reticulocytosis, He... ORPHA:3203
Tubulointerstitial Nephritis With Uveitis
Reversible renal failure, Circulating immune complexes, Anterior uveitis, Panuveitis, Uveitis, Gl... OMIM:607665
Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive
Hypochromia, Sideroblastic anemia, Hepatosplenomegaly, Decreased mean corpuscular volume, Pyridox... OMIM:206000
Refractory Anemia
Abnormal cardiac ventricular function, Macrocytic anemia, Normocytic anemia, Neutropenia, Normoch... ORPHA:98826
Inflammatory Bowel Disease 28, Autosomal Recessive
Folliculitis, Pyoderma, Perianal abscess, Crohn's disease, Enterocolitis, Colitis, Hematochezia OMIM:613148
Amoebiasis Due To Entamoeba Histolytica
Leukocytosis, Constrictive pericarditis, Lung abscess, Anemia, Congestive heart failure, Hypoalbu... ORPHA:67
Alpha-Thalassemia-Myelodysplastic Syndrome
Neutropenia, Acute leukemia, Splenomegaly, Microcytic anemia, Thrombocytopenia, HbH hemoglobin ORPHA:231401
Whim Syndrome 1
Decreased circulating IgG level, Decreased circulating antibody level, Neutropenia, Bronchiectasis OMIM:193670
Nephrotic Syndrome, Type 2
Hyperlipidemia, Hypoalbuminemia OMIM:600995
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Hepatic fibrosis, Splenomegaly, Elevated circulating aspartate aminotransferase concentration, El... OMIM:619658
Diffuse Neonatal Hemangiomatosis
Hypercalcemia, Hepatomegaly, Ascites, Anemia, Thrombocytopenia ORPHA:2123
Sickle Cell Anemia
Leukocytosis, Abnormality of the spleen, Thrombocytosis, Unconjugated hyperbilirubinemia, Increas... ORPHA:232
Chylomicron Retention Disease
Hypocholesterolemia, Hypotriglyceridemia, Steatorrhea, Hypoalbuminemia, Decreased LDL cholesterol... OMIM:246700
Transaldolase Deficiency
Abnormal circulating glutamine concentration, Telangiectasia, Anemia, Cirrhosis, Hepatosplenomega... ORPHA:101028
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Thrombocytopenia, Increased mean platelet volume OMIM:300048
Diffuse Alveolar Hemorrhage
Autoimmunity, Leukocytosis, Antineutrophil antibody positivity, Weight loss, Hematuria, Anemia, R... ORPHA:90060
Congenital Disorder Of Glycosylation, Type Iik
Elevated circulating creatine kinase concentration, Thrombocytopenia, Hepatomegaly OMIM:614727
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Hepatomegaly, Splenomegaly ORPHA:2274
Prolidase Deficiency
Hepatomegaly, Diffuse telangiectasia, High palate, Eczema, Systemic lupus erythematosus, Anemia, ... OMIM:170100
Beemer Lethal Malformation Syndrome
Thrombocytopenia OMIM:209970
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Hepatomegaly, Neutropenia, Anemia, Pancreatitis, Cardiomyopathy, Hyperammonemia, Splenomegaly, Th... ORPHA:79312
Immunodeficiency 36
Chronic lymphatic leukemia, Autoimmunity, Bronchiectasis, Decreased circulating antibody level, S... OMIM:616005
Bare Lymphocyte Syndrome, Type Ii
Cholangitis, Agammaglobulinemia, Infectious encephalitis, Neutropenia, Villous atrophy, Protracte... OMIM:209920
Autosomal Dominant Hyper-Ige Syndrome
Eczema, Cleft palate, Chronic otitis media, Osteomyelitis, Increased circulating IgE level, Vascu... ORPHA:2314
Hepatocellular Carcinoma
Hypoglycemia, Hemobilia, Abnormality of the hepatic vasculature, Portal hypertension, Liver absce... ORPHA:88673
Trichohepatoenteric Syndrome 1
Increased serum iron, Thrombocytosis, Abnormality of iron homeostasis, Increased mean platelet vo... OMIM:222470
Immunodeficiency 81
Decreased proportion of class-switched memory B cells, Recurrent cutaneous abscess formation, Abs... OMIM:619374
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Thrombocytosis, Cystic acne, Sterile arthritis, Sterile abscess, Acne, Arthritis, Hepatosplenomeg... OMIM:604416
Ménétrier Disease
Hypoproteinemia, Gastrointestinal hemorrhage, Hypochromic microcytic anemia, Hypoalbuminemia ORPHA:2494
Combined Immunodeficiency Due To Zap70 Deficiency
Recurrent infection of the gastrointestinal tract, Pneumonia, Stomatitis, Lymphadenitis, Chronic ... ORPHA:911
Nephrotic Syndrome, Type 23
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Podocyte foot process effa... OMIM:619201
Systemic Mastocytosis With Associated Hematologic Neoplasm
Leukocytosis, Chronic lymphatic leukemia, Hepatomegaly, Normocytic anemia, Syncope, Lymphadenopat... ORPHA:98849
Hemoglobin C-Beta-Thalassemia Syndrome
Microcytic anemia, Anemia, Abnormal hemoglobin, Splenomegaly ORPHA:231242
Selective Igm Deficiency
Autoimmunity, Non-infectious meningitis, Neutropenia in presence of anti-neutropil antibodies, Ly... ORPHA:331235
Primary Membranoproliferative Glomerulonephritis
C3 nephritic factor positivity, Nephrotic syndrome, Stage 5 chronic kidney disease, Renal insuffi... ORPHA:54370
Anti-Glomerular Basement Membrane Disease
Autoimmunity, Hematuria, Anemia, Arthritis, Vasculitis, Glomerulopathy, Proteinuria, Renal insuff... ORPHA:375
Preeclampsia
Hypertension, Elevated diastolic blood pressure, Elevated circulating creatinine concentration, E... ORPHA:275555
Primary Myelofibrosis
Leukocytosis, Cachexia, Thrombocytosis, Hepatomegaly, Lymphadenopathy, Anemia, Splenomegaly, Hepa... ORPHA:824
Tempi Syndrome
Telangiectasia, Intracranial hemorrhage, Ascites, Polycythemia, Increased circulating IgG level, ... ORPHA:284227
Lysinuric Protein Intolerance
Tubulointerstitial nephritis, Oroticaciduria, Decreased glomerular filtration rate, Decreased cir... ORPHA:470
Avian Influenza
Leukopenia, Elevated circulating creatine kinase concentration, Hepatitis, Lymphopenia, Congestiv... ORPHA:454836
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Leukocytosis, Thrombocytosis, Bloody diarrhea, Defective T cell proliferation, Increased circulat... OMIM:618213
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Igg4-Related Ophthalmic Disease
Sinusitis, Cholangitis, Abnormality of the anterior pituitary, Prostatitis, Lymphadenopathy, Retr... ORPHA:449563
Spinocerebellar Ataxia, Autosomal Recessive 21
Hepatomegaly, Hepatic fibrosis, Hepatic failure, Splenomegaly OMIM:616719
Bilateral Striopallidodentate Calcinosis
Abnormality of the liver, Thrombocytopenia, Hepatomegaly ORPHA:1980
Hyperlipoproteinemia, Type Id
Colitis, Splenomegaly OMIM:615947
Rhabdoid Tumor
Hypercalcemia, Hypertension, Lymphadenopathy, Anemia, Neoplasm of the liver, Thrombocytopenia, In... ORPHA:69077
Chronic Bilirubin Encephalopathy
Hypernatremia, Neonatal hyperbilirubinemia, Hypoalbuminemia, Prolonged neonatal jaundice, Hemolyt... ORPHA:529808
Heme Oxygenase 1 Deficiency
Thrombocytosis, Hepatomegaly, Increased circulating interleukin 6, Asplenia, Lymphadenopathy, Coo... OMIM:614034
Acute Bilirubin Encephalopathy
Hypernatremia, Neonatal hyperbilirubinemia, Hypoalbuminemia, Prolonged neonatal jaundice, Hemolyt... ORPHA:529799
Macrocephaly/Autism Syndrome