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Gene: Prkcd MGI:97598

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Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
protein kinase C, delta
Synonyms:
D14Ertd420e,  Pkcd,  PKCdelta,  PKC[d]

Order Alleles

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

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.

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Prkcd mutations

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

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

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Generalized lymphadenopathy, De... OMIM:615559
Autoimmune Lymphoproliferative Syndrome
Rheumatoid factor positive, Uveitis, Increased circulating IgG level, Colitis, Thyroid carcinoma,... ORPHA:3261
Common Variable Immunodeficiency
Hemolytic anemia, Failure to thrive in infancy, Pneumonia, Autoimmune thrombocytopenia, Splenomeg... ORPHA:1572

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Inflammatory Bowel Disease 3
Ulcerative colitis OMIM:604519
Inflammatory Bowel Disease 21
Ulcerative colitis OMIM:612354
Inflammatory Bowel Disease 29
Ulcerative colitis, Crohn's disease OMIM:618077
Inflammatory Bowel Disease 13
Inflammation of the large intestine OMIM:612244
Inflammatory Bowel Disease (Crohn Disease) 19
Inflammation of the large intestine OMIM:612278
Neutrophil Immunodeficiency Syndrome
Leukocytosis, Abnormality of neutrophil physiology ORPHA:183707
Immunodeficiency 64 With Lymphoproliferation
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... OMIM:618534
Autoimmune Lymphoproliferative Syndrome
Rheumatoid factor positive, Increased circulating IgG level, Iron deficiency anemia, Platelet ant... OMIM:601859
Granulomatous disease with defect in neutrophil chemotaxis
Impaired neutrophil killing of staphylococci OMIM:233670
Lymphoma, Hodgkin, Classic
Impaired lymphocyte transformation with phytohemagglutinin, Polyclonal elevation of IgM OMIM:236000
Pseudoxanthomatous Diffuse Cutaneous Mastocytosis
Cutaneous mastocytosis ORPHA:280794
Immunodeficiency With Hyper-Igm, Type 3
Impaired Ig class switch recombination, Absence of lymph node germinal center, Impaired memory B ... OMIM:606843
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Splenomegaly, Lymphadenopathy, Decreased proportion of class-switched memory B cells, Increased c... OMIM:615513
B-Cell Expansion With Nfkb And T-Cell Anergy
Decreased specific antibody response to polysaccharide vaccine, Splenomegaly, Decreased circulati... OMIM:616452
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Impaired lymphocyte transformation with phytohemagglutinin, Monoclonal immunoglobulin M proteinem... OMIM:153600
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Generalized lymphadenopathy, De... OMIM:615559
Autoimmune Lymphoproliferative Syndrome, Type Iia
Rheumatoid factor positive, Iron deficiency anemia, Increased circulating IgG level, Platelet ant... OMIM:603909
Diamond-Blackfan Anemia 18
Erythroid hypoplasia, Steroid-responsive anemia, Neutropenia OMIM:618310
Immunodeficiency 86
Impaired oxidative burst, Decreased circulating IgG level, Increased circulating IgM level OMIM:619549
Specific Granule Deficiency 1
Impaired neutrophil bactericidal activity, Absent neutrophil specific granules, Hyposegmentation ... OMIM:245480
Carbimazole Sensitivity
Drug-induced agranulocytosis OMIM:212060
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Autoimmune hemolytic anemia, Fluctuating splenomegaly, Autoimmune thrombocytopenia, Neutropenia i... OMIM:619220
Immunodeficiency 105
Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Pancytopenia, Absence of... OMIM:619924
Activated Pi3K-Delta Syndrome
Hepatomegaly, Autoimmunity, Pneumonia, Splenomegaly, Recurrent tonsillitis, Bronchiectasis, Decre... ORPHA:397596
Immunodeficiency With Hyper-Igm, Type 2
Impaired Ig class switch recombination, Lymphadenopathy, Increased circulating IgM level, Decreas... OMIM:605258
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Increased circulating IgE level, Herpes simplex encephalitis, Bronchiectasis, Hepatosplenomegaly,... OMIM:618982
Proteasome-Associated Autoinflammatory Syndrome 2
Increased CD4:CD8 ratio, Skin rash, Neutrophilic infiltration of the skin, Increased circulating ... OMIM:618048
Immunodeficiency 25
Autoimmune hemolytic anemia, Eosinophilia, Increased circulating IgA level, Increased circulating... OMIM:610163
Immunodeficiency With Hyper-Igm, Type 5
Impaired Ig class switch recombination, Lymphadenopathy, Increased circulating IgM level, Decreas... OMIM:608106
Immunodeficiency 24
Decreased circulating IgG level, Lymphopenia, Decreased CD4:CD8 ratio, Reduced proportion of muco... OMIM:615897
Neutropenia, Severe Congenital, 7, Autosomal Recessive
Neutropenia OMIM:617014
Masp2 Deficiency
Recurrent pneumonia, Ulcerative colitis OMIM:613791
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Impaired lymphocyte transformation with phytohemagglutinin, Increased CD4:CD8 ratio, Proteinuria,... OMIM:617006
Immunodeficiency 27A
Increased inflammatory response, Rheumatoid factor positive, Pneumonia, Splenomegaly, Leukocytosi... OMIM:209950
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Decreased circulating IgG level, Autoimmunity, Absent peripheral lymph nodes in presence of infec... ORPHA:98813
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Autoimmune hemolytic anemia, Glomerulonephritis, Pneumonia, Plasmacytosis, Increased circulating ... OMIM:247800
Undritz Anomaly
Hypersegmentation of neutrophil nuclei OMIM:191500
Hepatic Venoocclusive Disease With Immunodeficiency
Abnormality of the liver, Decreased circulating IgG level, Absence of lymph node germinal center OMIM:235550
Immunodeficiency 14B, Autosomal Recessive
Neutrophilia, Reduced natural killer cell activity, Leukocytosis, Chronic diarrhea, Recurrent pne... OMIM:619281
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Lymphopenia, Eosinophilia, Autoimmune thrombocytopenia, Increased circulating IgA level, Decrease... ORPHA:169154
Persistent Polyclonal B-Cell Lymphocytosis
Splenomegaly, Decreased circulating total IgM, Lymphocytosis, Hepatomegaly OMIM:606445
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Hepatomegaly, Glomerulonephritis, Decreased proportion of marginal zone B cells, Autoimmune throm... OMIM:619375
Hypoalphalipoproteinemia, Primary, 1
Myocardial infarction, Premature coronary artery atherosclerosis OMIM:604091
Caspase 8 Deficiency
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:607271
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Hepatomegaly, Autoimmune hemolytic anemia, Recurrent urinary tract infections, Autoimmunity, Lymp... OMIM:618495
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Anemia, Leukocytosis, Ulcerative colitis, Bloody diarrhea OMIM:619398
Diarrhea 8, Secretory Sodium, Congenital
Abdominal distention, Inflammation of the large intestine, Secretory diarrhea, Elevated fecal sodium OMIM:616868
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults
Acute myeloid leukemia, Neutropenia OMIM:607847
Cyclic Neutropenia
Cyclic neutropenia OMIM:162800
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, B lymphocytopenia, Neutropenia OMIM:613107
Immunoerythromyeloid Hypoplasia
Erythroid hypoplasia, Decreased circulating IgG level OMIM:242880
Immunodeficiency With Hyper-Igm, Type 1
Decreased circulating IgE, Neutropenia, Decreased circulating IgG level, Hemolytic anemia, Hepato... OMIM:308230
Immunodeficiency 50
Decreased circulating antibody level, Lymphopenia, Neutropenia OMIM:300988
Neutropenia, Lethal Congenital, With Eosinophilia
Eosinophilia, Neutropenia OMIM:257100
Immunodeficiency 37
Decreased proportion of central memory CD4-positive, alpha-beta T cells, Colitis, Infectious ence... OMIM:616098
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Small for gestational age, Failure to thrive in infancy, Eczema, Decreased proportion of CD8-posi... OMIM:617241
Immunodeficiency 70
Decreased circulating total IgG, Celiac disease, Decreased circulating antibody level, Decreased ... OMIM:618969
Immunodeficiency 89 And Autoimmunity
Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 23 concentrati... OMIM:619632
Immunodeficiency, Common Variable, 6
Hepatomegaly, Decreased specific pneumococcal antibody level, Glomerulonephritis, Autoimmune thro... OMIM:613496
Immunoglobulin A Deficiency 2
Abnormal lymphocyte morphology, Autoimmunity, Decreased circulating IgA level OMIM:609529
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Thrombocytopenia, Increased circulating IgA level OMIM:314000
Inflammatory Bowel Disease 28, Autosomal Recessive
Perianal abscess, Enterocolitis, Hematochezia, Folliculitis, Pyoderma, Colitis, Crohn's disease OMIM:613148
Schnitzler Syndrome
Hepatomegaly, Skin rash, Splenomegaly, Leukocytosis, Lymphadenopathy, Increased circulating IgM l... ORPHA:37748
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Glomerulonephritis, Eosinophilia, Autoimmune thrombocytopenia, Eczema, Thrombocytopenia, Hypothyr... OMIM:304790
Autoimmune Lymphoproliferative Syndrome
Rheumatoid factor positive, Uveitis, Increased circulating IgG level, Colitis, Thyroid carcinoma,... ORPHA:3261
Immunodeficiency, Common Variable, 1
Hepatomegaly, Impaired T cell function, Pneumonia, Splenomegaly, Recurrent pneumonia, Neutropenia... OMIM:607594
Immunodeficiency 36 With Lymphoproliferation
Decreased circulating IgG level, Autoimmunity, Splenomegaly, Enlarged tonsils, Bronchiectasis, Ch... OMIM:616005
Ras-Associated Autoimmune Leukoproliferative Disorder
Hemolytic anemia, Pancytopenia, Hepatomegaly, Autoimmunity, Follicular hyperplasia, Autoimmune th... OMIM:614470
Hirschsprung Disease, Susceptibility To, 1
Aganglionic megacolon, Abdominal distention, Enterocolitis, Constipation, Vomiting OMIM:142623
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Cervical lymphadenopathy, Decreased circulating total IgM, B lymphocytopenia, Abnormally low T ce... OMIM:618987
Mu-Heavy Chain Disease
Hepatomegaly, Abnormal B cell count, Bence Jones Proteinuria, Splenomegaly, Weight loss, Lymphade... ORPHA:100024
Lymphoproliferative Syndrome, X-Linked, 1
Hepatomegaly, Pancytopenia, Aplastic anemia, Dysgammaglobulinemia, Reduced natural killer cell ac... OMIM:308240
Histiocytosis, Familial Lipochrome
Increased circulating antibody level, Histiocytosis OMIM:235900
Asthma, Short Stature, And Elevated Iga
Increased circulating IgA level OMIM:208600
Immunodeficiency 11B With Atopic Dermatitis
Pneumonia, Eosinophilia, Chronic diarrhea, Increased circulating IgE level, Atopic dermatitis, Br... OMIM:617638
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Lymphopenia, Inflammatory abnormality of the skin, Sinusitis, Autoimmunity, Absence of lymph node... ORPHA:277
Agammaglobulinemia 4, Autosomal Recessive
Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total ... OMIM:613502
Autoinflammation With Arthritis And Dyskeratosis
Hepatomegaly, Autoimmune hemolytic anemia, Increased circulating IgA level, Antinuclear antibody ... OMIM:617388
Severe Combined Immunodeficiency, X-Linked
Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating IgG level, Hepa... OMIM:300400
Inflammatory Bowel Disease 25, Autosomal Recessive
Enterocutaneous fistula, Perianal abscess, Pancolitis, Enterocolitis, Folliculitis, Rectovaginal ... OMIM:612567
Immunodeficiency, Common Variable, 11
Mucoid diarrhea, Increased circulating IgE level, Decreased proportion of class-switched memory B... OMIM:615767
Cutaneous Photosensitivity And Colitis, Lethal
Diarrhea, Colitis OMIM:219095
Whim Syndrome 2
Chronic neutropenia OMIM:619407
Immunodeficiency 57 With Autoinflammation
Skin rash, Gastritis, Perianal abscess, Diarrhea, Bronchiectasis, Decreased circulating antibody ... OMIM:618108
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... ORPHA:70593
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Increased circul... OMIM:202700
Immunodeficiency, Common Variable, 7
Splenomegaly, Chronic (near) absent circulating IgG4, Reduced isohemagglutinin level, Chronic par... OMIM:614699
Sting-Associated Vasculopathy, Infantile-Onset
Lymphopenia, Myositis, Antiphospholipid antibody positivity, Rheumatoid factor positive, Skin ras... OMIM:615934
Agammaglobulinemia 7, Autosomal Recessive
Erythema nodosum, Agammaglobulinemia, Neutropenia, Reduced natural killer cell count, Panhypogamm... OMIM:615214
Agammaglobulinemia 8B, Autosomal Recessive
Decreased circulating IgG level, Pancytopenia, Splenomegaly, Decreased proportion of CD8-positive... OMIM:619824
Immunodeficiency 95
Lymphopenia, Decreased circulating IgG3 level, Increased circulating IgG3 level OMIM:619773
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly, Cutaneous anergy OMIM:183350
Immunodeficiency 62
Autoimmune thrombocytopenia, Decreased proportion of memory B cells, Decreased circulating total ... OMIM:618459
Immunodeficiency 52
Decreased proportion of CD4-positive T cells, Failure to thrive, Autoimmune thrombocytopenia, Spl... OMIM:617514
Immunodeficiency 15B
Chronic diarrhea, Decreased circulating antibody level, Agammaglobulinemia, Monocytosis, Decrease... OMIM:615592
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Neutropenia ORPHA:70592
Complement Component 3 Deficiency, Autosomal Recessive
Renal insufficiency, Membranoproliferative glomerulonephritis, Recurrent tonsillitis, Recurrent p... OMIM:613779
Immunodeficiency 109 With Lymphoproliferation
Pancytopenia, Generalized lymphadenopathy, Decreased lymphocyte proliferation in response to anti... OMIM:620282
Immunodeficiency, Common Variable, 2
Hepatomegaly, Autoimmunity, Impaired T cell function, Follicular hyperplasia, Splenomegaly, Recur... OMIM:240500
Immunodeficiency 60 And Autoimmunity
Pancytopenia, Splenomegaly, Chronic diarrhea, Bronchiectasis, Ulcerative colitis, Decreased circu... OMIM:618394
Inflammatory Bowel Disease (Crohn Disease) 30
Gastritis, Duodenitis, Abdominal pain, Chronic diarrhea, Pancolitis, Bloody diarrhea, Vomiting, A... OMIM:619079
Neutropenia, Chronic Familial
Increased circulating antibody level, Neutropenia OMIM:162700
Pa Polymorphism Of Alpha-2-Globulin
Abnormal immunoglobulin level OMIM:260100
Agammaglobulinemia 10, Autosomal Dominant
Transient neutropenia, Agammaglobulinemia, Decreased circulating total IgM, Absent circulating B ... OMIM:619707
Insulin-Resistance Syndrome Type B
Osteoarthritis, Fasting hyperinsulinemia, Increased body weight, Leukopenia, Increased circulatin... ORPHA:2298
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
T lymphocytopenia, Decreased circulating IgG level OMIM:242870
Autoimmune Hepatitis
Liver kidney microsome type 1 antibody positivity, Fulminant hepatitis, Increased circulating IgG... ORPHA:2137
X-Linked Severe Congenital Neutropenia
Monocytopenia, Neutropenia ORPHA:86788
Systemic Lupus Erythematosus 16
Lupus nephritis, Antinuclear antibody positivity, Systemic lupus erythematosus, Decreased circula... OMIM:614420
Immunodeficiency 102
Increased circulating interleukin 6 concentration, Leukopenia, Decreased circulating IgG level, H... OMIM:301082
Autoinflammatory-Pancytopenia Syndrome
Pancytopenia, Membranoproliferative glomerulonephritis, Proteinuria, Chilblains, Intestinal infla... OMIM:619858
Immunodeficiency, Common Variable, 3
Decreased proportion of class-switched memory B cells, Decreased circulating total IgM, Reduced i... OMIM:613493
Immunodeficiency, Common Variable, 4
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:613494
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Abnormality of the tonsils, Decreased proportion of CD8-positive T cells, Decreased circulating t... OMIM:611926
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Anemia, Leukopenia, Increased circulati... OMIM:615285
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Decreased proportion of naive T cells, Recurrent cutaneous fungal infections, Increased circulati... ORPHA:276
Pgm3-Cdg
Rheumatoid factor positive, Abnormal CD4:CD8 ratio, Leukopenia, T lymphocytopenia, Increased circ... ORPHA:443811
Immunodeficiency 48
Hepatomegaly, Pneumonia, Absence of CD8-positive T cells, Splenomegaly, Eczematoid dermatitis, Fa... OMIM:269840
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Absent specific antibody response, Decreased proportion of CD4+CD25+ regulatory T cells, Follicul... OMIM:619846
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Neutrophilia, Failure to thrive in infancy, Skin rash, Increased circulating IgA level, Leukocyto... OMIM:617099
Inflammatory Bowel Disease (Crohn Disease) 1
Intestinal obstruction, Abdominal pain, Diarrhea, Ulcerative colitis, Inflammation of the large i... OMIM:266600
Immunodeficiency, Common Variable, 14
Psoriasiform dermatitis, Chronic diarrhea, Decreased proportion of class-switched memory B cells,... OMIM:617765
Transcobalamin Deficiency
Lymphopenia, Pancytopenia, Decreased circulating antibody level, Decreased circulating total IgM,... ORPHA:859
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections
Increased circulating interleukin 6 concentration, Recurrent skin infections, Increased circulati... OMIM:618944
Idiopathic Non-Lupus Full-House Nephropathy
Glomerular C3 deposition, Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hemat... ORPHA:567544
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Decreased circulating IgG level, Lymphopenia, Autoimmune hemolytic anemia, Abnormal T cell count,... ORPHA:331206
Immunodeficiency 103, Susceptibility To Fungal Infections
Abnormal B cell count, Increased circulating IgE level, Hypereosinophilia, Chronic oral candidias... OMIM:212050
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Neutropenia ORPHA:90023
Retinal Telangiectasia And Hypogammaglobulinemia
Reduced delayed hypersensitivity, Decreased circulating IgG level OMIM:267900
Ficolin 3 Deficiency
Necrotizing enterocolitis OMIM:613860
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Hepatomegaly, Failure to thrive, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia... OMIM:602450
Appendicitis, Proneness To
Abnormal large intestine morphology OMIM:107700
Neutropenia-Monocytopenia-Deafness Syndrome
Abnormal macrophage morphology, Abnormality of neutrophils ORPHA:2690
Immunodeficiency 33
Decreased circulating total IgM, Increased circulating IgA level OMIM:300636
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Decreased circulating total IgM, Neutropenia OMIM:610798
Agammaglobulinemia 2, Autosomal Recessive
Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total ... OMIM:613500
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Mediasti... OMIM:300853
Fetal Cytomegalovirus Syndrome
Splenomegaly, Anemia, Hepatomegaly ORPHA:294
Insulin Autoimmune Syndrome
Nonketotic hypoglycemia, Arthralgia/arthritis, Autoimmunity, Reactive hypoglycemia, Insulin resis... ORPHA:411593
Immunodeficiency 44
Decreased circulating total IgM, Lymphopenia, Decreased circulating IgA level, Abnormal circulati... OMIM:616636
Kimura Disease
Eosinophilia, Increased circulating IgE level, Lymphadenopathy, Follicular hyperplasia ORPHA:482
Lymphoproliferative Syndrome, X-Linked, 2
Pancytopenia, Acne, Recurrent skin infections, Aplastic anemia, Erythema nodosum, Splenomegaly, H... OMIM:300635
Agammaglobulinemia 6, Autosomal Recessive
Diarrhea, Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulinemia, Decreased circulat... OMIM:612692
Immunodeficiency, Common Variable, 5
Antinuclear antibody positivity, Chronic decreased circulating total IgG OMIM:613495
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Neutropenia OMIM:616022
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Lymphopenia, Autoimmune hemolytic anemia, Hepatomegaly, Atrophic gastritis, Psoriasiform dermatit... OMIM:616100
Boutonneuse Fever
Renal insufficiency, Maculopapular exanthema, Skin rash, Cervical lymphadenopathy, Lymphadenopath... ORPHA:83313
Erythrocytosis, Familial, 8
Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:222800
Anemia, Sideroblastic, 5
Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia OMIM:619523
Inflammatory Bowel Disease 11
Hematochezia, Diarrhea, Inflammation of the large intestine, Abdominal pain OMIM:191390
Polyneuropathy Associated With Igm Monoclonal Gammopathy With Anti-Mag
Monoclonal immunoglobulin M proteinemia ORPHA:639
Heparin Cofactor Ii Deficiency
Post-angioplasty coronary artery restenosis OMIM:612356
C3 Glomerulopathy
Membranoproliferative glomerulonephritis, Proteinuria, Autoimmunity, Mesangial hypercellularity, ... ORPHA:329918
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Myositis, Anti-thyroid peroxidase antibody positivity, Tubulointerstitial nephritis, Iron deficie... ORPHA:37042
Combined Cellular And Humoral Immune Defects With Granulomas
T lymphocytopenia, Decreased circulating IgG level, B lymphocytopenia OMIM:233650
Hyper-Igd Syndrome
Neutrophilia, Skin rash, Increased circulating IgA level, Splenomegaly, Leukocytosis, Lymphadenit... OMIM:260920
Aneurysm, Intracranial Berry, 12
Internal carotid artery dissection, Subarachnoid hemorrhage, Fusiform cerebral aneurysm, Arterial... OMIM:618734
Adult Idiopathic Neutropenia
Abnormal neutrophil count, Increased circulating IgM level, Monocytosis, Neutropenia, Monocytopen... ORPHA:2688
Immunodeficiency 97 With Autoinflammation
Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Colitis, Decreased circulating Ig... OMIM:619802
Immunodeficiency 61
Frequent Giardia lamblia infestation, Decreased circulating IgG4 level, Malabsorption, Agammaglob... OMIM:300310
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Atrophic gastritis, Pure red cell aplasia, Inflammation of the large intestine, Decreased circula... ORPHA:436159
Immunodeficiency, Common Variable, 8, With Autoimmunity
Atrophic gastritis, Generalized lymphadenopathy, Uveitis, Inflammation of the large intestine, Co... OMIM:614700
Simple Cryoglobulinemia
Viral hepatitis, Renal insufficiency, Membranoproliferative glomerulonephritis, Proteinuria, Rheu... ORPHA:91139
Neutrophilia, Hereditary
Splenomegaly, Neutrophilia OMIM:162830
Axonal Polyneuropathy Associated With Igg/Igm/Iga Monoclonal Gammopathy
Cryoglobulinemia, Monoclonal immunoglobulin M proteinemia ORPHA:209004
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
T lymphocytopenia, Hypothyroidism, Hemolytic anemia, Psoriasiform dermatitis, Decreased proportio... OMIM:606367
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Decreased circulating IgG level, Chronic oral candidiasis, Eosinophilia, Pneumonia, Recurrent pne... ORPHA:169160
Trimethylaminuria
Splenomegaly, Anemia, Neutropenia OMIM:602079
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Bone marrow hypo... OMIM:619041
5-Oxoprolinase Deficiency
Diarrhea, Vomiting, Enterocolitis, Abdominal pain OMIM:260005
Aortic Aneurysm, Familial Thoracic 4
Aortic regurgitation, Cystic medial necrosis, Anterior cerebral artery stenosis, Posterior cerebr... OMIM:132900
Immunodeficiency 76
Splenomegaly, Chronic diarrhea, Recurrent pneumonia, T lymphocytopenia, Colitis, B lymphocytopeni... OMIM:619164
Lymphoproliferative Syndrome 3
Hepatosplenomegaly, Decreased circulating antibody level, Lymphadenopathy, Partial absence of spe... OMIM:618261
Extracranial Carotid Artery Aneurysm
Subarachnoid hemorrhage, Vasculitis, Upper limb muscle weakness, Hypertension, Arteriosclerosis, ... ORPHA:494424
Polycythemia Vera
Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato... OMIM:263300
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Agammaglobulinemia, Lymphopenia, Hypoplasia of the thymus OMIM:200900
Neutropenia, Severe Congenital, X-Linked
Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia OMIM:300299
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmunity, Autoimmune thrombocytopenia, Splenom... ORPHA:444463
C1Q Deficiency 1
Membranoproliferative glomerulonephritis, Autoimmunity, Decreased circulating complement factor I... OMIM:613652
Immunodeficiency 104
Hepatomegaly, Eczema, Pneumonia, Splenomegaly, Chronic mucocutaneous candidiasis, Lymphadenopathy... OMIM:608971
Immunodeficiency 85 And Autoimmunity
Lymphopenia, Villous atrophy, Eczema, Chronic diarrhea, Oligoarthritis, Erythroderma, Decreased c... OMIM:619510
Immunodeficiency 98 With Autoinflammation, X-Linked
Hepatomegaly, Autoimmune hemolytic anemia, Chronic oral candidiasis, Splenomegaly, Lymphadenopath... OMIM:301078
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal hemoglobin, Splenomegaly, Thrombocytopenia, Abnormal platelet function, Anemia ORPHA:231393
Hip Dysplasia, Beukes Type
Abnormality of the epiphysis of the femoral head, Abnormal ossification involving the femoral hea... ORPHA:2114
Lipodystrophy, Partial, Acquired, Susceptibility To
Membranoproliferative glomerulonephritis, Proteinuria, Diabetes mellitus, Polycystic ovaries, Hem... OMIM:608709
Autoinflammation, Immune Dysregulation, And Eosinophilia
Eosinophilic liver infiltration, Eosinophilia, Atopic dermatitis, Hepatosplenomegaly, Nephrotic s... OMIM:618999
Cystic Echinococcosis
Abnormal peritoneum morphology, Hepatomegaly, Abscess, Eosinophilia, Abnormality of the testis si... ORPHA:400
Gastroesophageal Reflux
Esophageal neoplasm, Barrett esophagus, Gastroesophageal reflux, Esophagitis OMIM:109350
Immune Deficiency, Familial Variable
Decreased circulating IgG level, Decreased circulating IgA level OMIM:146830
Thymoma
Myositis, Aplastic anemia, Autoimmunity, Glomerulonephritis, Pure red cell aplasia, Abnormal lymp... ORPHA:99867
Iga Pemphigus
Neutrophilic infiltration of the skin, Monoclonal elevation of circulating IgA, Eosinophilia, Inc... ORPHA:555905
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Enterocolitis, Ulcerative colitis, Decreased proportion of class-switched memory B cells, Decreas... OMIM:614878
Familial Cerebral Saccular Aneurysm
Transient ischemic attack, Cerebral berry aneurysm, Subarachnoid hemorrhage, Intracranial hemorrh... ORPHA:231160
Tempi Syndrome
Increased circulating IgG level, Ascites, Increased hematocrit, Polycythemia ORPHA:284227
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos... OMIM:608203
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Splenomegaly, Abnormal natural killer cell physiology, Decreased circulating antibody level, Hepa... OMIM:613101
Agammaglobulinemia 3, Autosomal Recessive
Abnormal T cell morphology, Agammaglobulinemia, Absent isohemagglutinin level, Absent circulating... OMIM:613501
Hypercholesterolemia, Familial, 4
Tendon xanthomatosis, Atherosclerosis OMIM:603813
Familial Aortic Dissection
Aortic regurgitation, Descending thoracic aorta aneurysm, Patent ductus arteriosus, Descending ao... ORPHA:229
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome
Iron deficiency anemia, Thrombocytopenia, Increased mean platelet volume, Neutropenia ORPHA:494444
Immunodeficiency 91 And Hyperinflammation
Hepatomegaly, Renal insufficiency, Membranoproliferative glomerulonephritis, Neutrophilia, Maculo... OMIM:619644
Coronary Artery Disease, Autosomal Dominant, 1
Hypertension, Myocardial infarction, Premature coronary artery atherosclerosis OMIM:608320
Multiple Myeloma
Increased circulating IgA level, Splenomegaly, Weight loss, Decreased circulating antibody level,... ORPHA:29073
Immunoglobulin A Deficiency 1
Autoimmunity, Decreased circulating IgA level OMIM:137100
Felty Syndrome
Splenomegaly, Neutropenia OMIM:134750
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Diffuse mesangial sclerosis, Severe B lymphocytopenia, Sinusitis, Hepatomegaly, Autoimmune thromb... OMIM:102700
Hemoglobin D Disease
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... ORPHA:90039
Nephrotic Syndrome, Type 7
Hemolytic anemia, Membranoproliferative glomerulonephritis, Proteinuria, Hemolytic-uremic syndrom... OMIM:615008
Myelolymphatic Insufficiency
Leukopenia, Hyposegmentation of neutrophil nuclei OMIM:310350
Brucellosis
Liver abscess, Rheumatoid factor positive, Knee osteoarthritis, Hyperhidrosis, Leukopenia, Increa... ORPHA:1304
Igg4-Related Kidney Disease
Rheumatoid factor positive, Lymphadenitis, Renal interstitial immunoglobulin deposits, Sterile py... ORPHA:449395
Visceral Myopathy 2
Intestinal obstruction, Necrotizing enterocolitis, Gastroparesis, Intestinal malrotation, Intesti... OMIM:619350
Idiopathic Pulmonary Hemosiderosis
Hepatomegaly, Rheumatoid factor positive, Glomerulonephritis, Cardiomegaly, Antinuclear antibody ... ORPHA:99931
Immunodeficiency 23
Hemolytic anemia, Lymphopenia, Membranoproliferative glomerulonephritis, Rheumatoid factor positi... OMIM:615816
Igg4-Related Dacryoadenitis And Sialadenitis
Myositis, Autoimmunity, Increased circulating IgG4 level, Increased circulating IgA level, Antinu... ORPHA:79078
Alpha-Heavy Chain Disease
Hepatomegaly, Dysgammaglobulinemia, Splenomegaly, Lymphadenopathy, Ascites, Anemia ORPHA:100025
Fanconi Anemia, Complementation Group G
Thrombocytopenia, Leukemia, Anemia, Neutropenia OMIM:614082
Cernunnos-Xlf Deficiency
Autoimmunity, Thrombocytopenia, Decreased circulating antibody level, T lymphocytopenia, B lympho... ORPHA:169079
Igg4-Related Aortitis
Increased inflammatory response, Autoimmunity, Increased circulating IgG4 level, Antinuclear anti... ORPHA:449400
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Decreased circulating IgG level, Hepatomegaly, Recurrent urinary tract infections, Recurrent skin... OMIM:620210
Hyperimmunoglobulinemia D With Periodic Fever
Hepatomegaly, Increased circulating IgA level, Peritonitis, Lymphadenopathy, Arthritis, Recurrent... ORPHA:343
Gamma-A-Globulin, Defect In Assembly Of
Decreased circulating IgA level OMIM:137050
Sitosterolemia 2
Tendon xanthomatosis, Premature coronary artery atherosclerosis OMIM:618666
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Splenomegaly, Hepatomegaly ORPHA:2274
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Sinusitis, Pneumonia, Protruding tongue, Malabsorption, Diarrhea, Bronchiectasis, Macroglossia, I... OMIM:242860
Purine Nucleoside Phosphorylase Deficiency
Lymphopenia, Autoimmune hemolytic anemia, Sinusitis, Recurrent urinary tract infections, Impaired... OMIM:613179
Dyskeratosis Congenita, Autosomal Recessive 5
Esophageal stenosis, Decreased circulating antibody level, Leukopenia, Colitis, Bone marrow hypoc... OMIM:615190
Systemic Lupus Erythematosus
Hemolytic anemia, Pericarditis, Antiphospholipid antibody positivity, Lupus nephritis, Antinuclea... OMIM:152700
Immunodeficiency 32B
Hepatomegaly, Neutrophilia, Sinusitis, Eosinophilia, Pneumonia, Thrombocytopenia, Splenomegaly, B... OMIM:226990
Autoinflammation With Episodic Fever And Lymphadenopathy
Hepatomegaly, Rheumatoid factor positive, Microcytic anemia, Antinuclear antibody positivity, Spl... OMIM:618852
Immunodeficiency 92
Hepatomegaly, Osteomyelitis, Cholangitis, Pneumonia, Leukocytosis, Decreased proportion of class-... OMIM:619652
Autoinflammatory Disease, Systemic, X-Linked
Anterior uveitis, Complete or near-complete absence of specific antibody response to unconjugated... OMIM:301081
Refractory Anemia
Normocytic anemia, Macrocytic anemia, Anemia of inadequate production, Erythroid hypoplasia, Norm... ORPHA:98826
Lymphoproliferative Syndrome 1
Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Autoimmunity, Autoimmune thrombocytopeni... OMIM:613011
Chilblain Lupus
Inflammatory abnormality of the skin, Antiphospholipid antibody positivity, Rheumatoid factor pos... ORPHA:90280
Combined Immunodeficiency, X-Linked
Sinusitis, Pneumonia, Decreased proportion of CD8-positive T cells, Otitis media, Decreased propo... OMIM:312863
Ige Responsiveness, Atopic
Increased circulating IgE level, Eczema, Allergic rhinitis OMIM:147050
Igg4-Related Submandibular Gland Disease
Cholangitis, Xerostomia, Increased circulating IgG level, Abnormal salivary gland morphology, Sia... ORPHA:449432
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia ORPHA:231401
Dehydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Cholelithiasis, Anemia of inadequate produc... ORPHA:3202
Erythrocytosis, Familial, 1
Increased red blood cell mass, Splenomegaly, Increased hematocrit, Increased hemoglobin OMIM:133100
Schimke Immuno-Osseous Dysplasia
Impaired T cell function, Neutropenia, Nephropathy, Nephrotic range proteinuria, Minimal change g... ORPHA:1830
Deafness, Neural, With Atypical Atopic Dermatitis
Late onset atopic dermatitis, Increased circulating IgE level OMIM:221700
Aortic Aneurysm, Familial Thoracic 6
Thoracic aortic aneurysm, Descending aortic dissection, Premature coronary artery atherosclerosis... OMIM:611788
C3 Glomerulopathy 3
Glomerular C3 deposition, Renal insufficiency, Glomerulonephritis, Mesangial hypercellularity, St... OMIM:614809
Selective Igm Deficiency
Fasciitis, Lymphadenitis, Paraproteinemia, Recurrent cutaneous fungal infections, Decreased propo... ORPHA:331235
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Decreased circulating IgG level, Skin rash, Autoimmunity, Recurrent aphthous stomatitis, Otitis m... ORPHA:275
Hypoalphalipoproteinemia, Primary, 2
Tendon xanthomatosis, Premature coronary artery atherosclerosis OMIM:618463
Leishmaniasis
Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Weight loss, Anemia, Le... ORPHA:507
Papa Syndrome
Increased inflammatory response, Myositis, Proteinuria, Acne, Pustule, Lymphadenopathy, Arthritis... ORPHA:69126
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Eosinophilia, Eosinophilic infiltration of the esophagus, Eczema, Increased circulating IgE level... OMIM:243700
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Pneumonia, Purulent rhinitis, T lymphocytopenia, Arthritis, B lymphocytopenia, Conjunctivitis, Fa... OMIM:601457
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating IgG level, Abse... ORPHA:35078
Complement Component 4A Deficiency
Decreased circulating complement C4 concentration, Glomerulonephritis, Reduced hemolytic compleme... OMIM:614380
Body Skin Hyperlaxity Due To Vitamin K-Dependent Coagulation Factor Deficiency
Dilatation of the cerebral artery, Atherosclerosis ORPHA:91135
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Decreased circulating IgG level, Pancytopenia, Generalized lymphadenopathy, Decreased lymphocyte ... OMIM:618986
Immunodeficiency 11A
Decreased proportion of CD4+CD25+ regulatory T cells, Decreased circulating antibody level, Agamm... OMIM:615206
Agammaglobulinemia, X-Linked
T lymphocytopenia, Decreased circulating IgE, Conjunctivitis, Neutropenia, Decreased circulating ... OMIM:300755
Trichothiodystrophy 3, Photosensitive
Failure to thrive, Increased circulating IgA level, Bilateral cryptorchidism, Abdominal adhesions... OMIM:616395
Tularemia
Brain abscess, Skin rash, Pneumonia, Erythema nodosum, Abnormal nasopharyngeal adenoid morphology... ORPHA:3392
Immunodeficiency 53
Impaired lymphocyte transformation with phytohemagglutinin, Neutrophilia OMIM:617585
Thrombocytopenia 5
B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia, Thrombocy... OMIM:616216
Immunodeficiency 43
Decreased specific antibody response to polysaccharide vaccine, Lung abscess, Abnormal circulatin... OMIM:241600
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Pneumonia, Decreased circulating antibody level, Decreased circulating total IgM, B lymphocytopen... OMIM:614069
Glutathione Synthetase Deficiency
Hemolytic anemia, Neutropenia OMIM:266130
Mantle Cell Lymphoma
Splenomegaly, Lymphadenopathy, Weight loss ORPHA:52416
Immunodeficiency 46
Decreased circulating antibody level, Neutropenia, Anemia, Intermittent thrombocytopenia OMIM:616740
Whim Syndrome 1
Decreased circulating antibody level, Decreased circulating IgG level, Neutropenia OMIM:193670
Reticular Dysgenesis
Skin rash, Abnormality of neutrophils, Weight loss, Decreased circulating antibody level, Leukope... ORPHA:33355
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Liver kidney microsome type 1 antibody positivity, Antinuclear antibody positivity, Anti-liver cy... ORPHA:562639
Mucopolysaccharidosis-Plus Syndrome
Hepatomegaly, Proteinuria, Thrombocytopenia, Splenomegaly, Recurrent pneumonia, Anemia, Nephrotic... OMIM:617303
Fibromuscular Dysplasia, Arterial
Myocardial infarction, Renovascular hypertension, Stroke, Intermittent claudication, Aortic disse... OMIM:135580
Ataxia-Pancytopenia Syndrome
Pancytopenia, Abnormal macrophage morphology, Abnormality of neutrophils, Splenomegaly, Acute mye... ORPHA:2585
Immunodeficiency 75 With Lymphoproliferation
Follicular hyperplasia, Bronchiectasis, Decreased proportion of class-switched memory B cells, Ly... OMIM:619126
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate production, Splenom... ORPHA:75564
Cholesterol-Ester Transfer Protein Deficiency
Tendon xanthomatosis, Precocious atherosclerosis ORPHA:79506
Agammaglobulinemia 8A, Autosomal Dominant
Agammaglobulinemia, Recurrent otitis media, B lymphocytopenia OMIM:616941
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Ileal atresia, Bloody diarrhea, Hypoplasia of the thymus, Psoriasiform dermatitis, Leukocytosis, ... OMIM:243150
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Neutropenia, Bronchiectasis, Decreased proportion of class-switched memory B cells, Agammaglobuli... OMIM:619705
Ectodermal Dysplasia And Immunodeficiency 1
Dysgammaglobulinemia, Reduced natural killer cell activity, Increased circulating IgA level, Incr... OMIM:300291
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Pancytopenia, Acne, Thrombocytosis, Microcytic anemia, Sterile arthritis, Hepatosplenomegaly, Art... OMIM:604416
Diarrhea 6
Chronic diarrhea, Crohn's disease, Abdominal pain OMIM:614616
Immunodeficiency 21
Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, Lymphopenia, Re... OMIM:614172
Hemoglobin H Disease
Hemolytic anemia, Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:613978
Thrombocytopenia 1
Increased circulating IgA level, Increased circulating IgE level, Decreased mean platelet volume,... OMIM:313900
Lymphoproliferative Syndrome 2
Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Recurrent pneumonia, EBV encephalitis,... OMIM:615122
Erythrocytosis, Familial, 5
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:617907
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Anterior uveitis, Hemolytic anemia, Skin rash, Colitis, Ileal ulcer, Lymphopenia, Thrombocytopenia OMIM:616744
Erythrocytosis, Familial, 4
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:611783
Odontomatosis-Aortae Esophagus Stenosis Syndrome
Myocarditis, Atherosclerosis ORPHA:2724
Neutropenia, Severe Congenital, 3, Autosomal Recessive
Acute lymphoblastic leukemia, Neutropenia OMIM:610738
Adenosine Triphosphate, Elevated, Of Erythrocytes
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia OMIM:102900
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Colitis ORPHA:88643
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin
Decreased circulating IgA level OMIM:235500
Wiskott-Aldrich Syndrome
Abnormal delayed hypersensitivity skin test, Iron deficiency anemia, Inflammation of the large in... OMIM:301000
Hemophagocytic Lymphohistiocytosis, Familial, 3
Reduced natural killer cell activity, Hepatosplenomegaly, Hemophagocytosis, Granulocytopenia, Anemia OMIM:608898
Glycoprotein Storage Disease
Splenomegaly, Gout OMIM:232900
Nephrotic Syndrome, Type 23
Proteinuria, Mesangial hypercellularity, Minimal change glomerulonephritis, Focal segmental glome... OMIM:619201
Postinfectious Vasculitis
Viral hepatitis, Inflammatory abnormality of the skin, Membranoproliferative glomerulonephritis, ... ORPHA:48435
Bare Lymphocyte Syndrome, Type Ii
Viral hepatitis, Villous atrophy, Cholangitis, Malabsorption, Chronic mucocutaneous candidiasis, ... OMIM:209920
Reticuloendotheliosis, X-Linked
Hepatosplenomegaly, Jaundice, Anemia, Lymphadenopathy OMIM:312500
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Splenomegaly, Anemia, Hepatomegaly ORPHA:46532
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Autoimmune hemolytic anemia, Autoimmunity, Eczema, Autoimmune thrombocytopenia, Neutropenia in pr... OMIM:615952
Immunodeficiency With Hyper-Igm, Type 4
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Impaired Ig class switch recombination,... OMIM:608184
Erythrocytosis, Familial, 6
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:617980
Beta-Thalassemia, Dominant Inclusion Body Type
Increased HbA2 hemoglobin, Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Ery... OMIM:603902
Autoinflammation With Infantile Enterocolitis
Villous atrophy, Pancytopenia, Skin rash, Reduced natural killer cell activity, Feeding difficult... OMIM:616050
Angiostrongyliasis
Increased circulating IgA level, Hypereosinophilia, Increased circulating specific IgE antibody, ... ORPHA:74
Immunodeficiency 22
Decreased circulating IgG level, Pericarditis, Autoimmunity, Abscess, Thrombocytopenia, Decreased... OMIM:615758
Diamond-Blackfan Anemia 4
Erythroid hypoplasia, Macrocytic anemia, Reticulocytopenia, Neutropenia OMIM:612527
Thrombocythemia 1
Splenomegaly, Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggre... OMIM:187950
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Lymphopenia, Recurrent skin infections, Increased circulating IgE level, Recurrent pneumonia, Bro... OMIM:619752
Ataxia-Pancytopenia Syndrome
Pancytopenia, Acute myelomonocytic leukemia, Anemia, Neutropenia, Hypoplastic anemia, Thrombocyto... OMIM:159550
Erythrocytosis, Familial, 3
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin OMIM:609820
Coronary Artery Disease, Autosomal Dominant 2
Sudden cardiac death, Hypertension, Myocardial infarction, Premature coronary artery atherosclerosis OMIM:610947
Zika Virus Disease
Maculopapular exanthema, Skin rash, Increased circulating IgM level, Arthritis, Conjunctivitis, M... ORPHA:448237
Proteasome-Associated Autoinflammatory Syndrome 5
Skin rash, Splenomegaly, Failure to thrive in infancy, Hepatomegaly OMIM:619175
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Small for gestational age, Proteinuria, Macronodular cirrhosis, Abnormal T cell morphology, Nephr... OMIM:215250
Systemic Lupus Erythematosus
Hemolytic anemia, Proteinuria, Lupus nephritis, Pyuria, Antinuclear antibody positivity, Discoid ... ORPHA:536
Lysinuric Protein Intolerance
Decreased response to growth hormone stimulation test, Tubulointerstitial nephritis, Renal fibros... ORPHA:470
Homozygous Familial Hypercholesterolemia
Myocardial infarction, Precocious atherosclerosis, Abnormal internal carotid artery morphology, A... ORPHA:391665
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Chronic gastritis, Increased circulating interleukin 6 concentration, Skin rash, Abdominal pain, ... OMIM:301074
Immunodeficiency 20
Recurrent otitis media, Reduced natural killer cell count, Recurrent sinusitis, Reduced natural k... OMIM:615707
Epidermolysis Bullosa Acquisita
Inflammation of the large intestine, Abdominal pain ORPHA:46487
Diamond-Blackfan Anemia 8
Macrocytic anemia, Increased mean corpuscular volume, Neutropenia OMIM:612563
Immunodeficiency 96
Increased proportion of gamma-delta T cells, Decreased circulating total IgM, Defective T cell pr... OMIM:619774
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Macrocytic anemia, Anisocytosis, Elliptocytosis, Bone marrow hypocellularity, Poikilocytosis, Neu... OMIM:300835
Proteasome-Associated Autoinflammatory Syndrome 3
Hepatomegaly, Failure to thrive, Myositis, Sinusitis, Skin rash, Splenomegaly, Lymphadenopathy, A... OMIM:617591
Proteasome-Associated Autoinflammatory Syndrome 1
Increased circulating interleukin 6 concentration, Microcytic anemia, Cardiomegaly, Elevated circ... OMIM:256040
Combined Immunodeficiency Due To Zap70 Deficiency
Recurrent bacterial skin infections, Autoimmune hemolytic anemia, Skin rash, Eosinophilia, Pneumo... ORPHA:911
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Impaired lymphocyte transformation with phytohemagglutinin, Intestinal obstruction, Absent natura... OMIM:600802
Rosaï-Dorfman Disease
Dysgammaglobulinemia, Anemia, Lymphadenopathy ORPHA:158014
Nephrotic Syndrome, Type 10
Nephrotic syndrome, Podocyte foot process effacement, Steroid-resistant nephrotic syndrome, Minim... OMIM:615861
Primary Biliary Cholangitis
Autoimmunity, Portal hypertension, Increased circulating IgA level, Antinuclear antibody positivi... ORPHA:186
Immunodeficiency 84
Perianal abscess, Splenomegaly, B lymphocytopenia OMIM:619437
Pontocerebellar Hypoplasia, Type 15
Thrombocytopenia, Chronic neutropenia, Anemia OMIM:619302
Hyperbilirubinemia, Shunt, Primary
Hepatomegaly, Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Erythroid... OMIM:237800
Hutchinson-Gilford Progeria Syndrome
Angina pectoris, Myocardial infarction, Precocious atherosclerosis, Congestive heart failure, Pre... OMIM:176670
Congenital Disorder Of Glycosylation, Type Iic
Neutrophilia, Reduction of neutrophil motility OMIM:266265
Pontocerebellar Hypoplasia, Type 14
Chronic neutropenia, Thrombocytopenia OMIM:619301
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Osteomyelitis, Recurrent skin infections, Eosinophilia, Eczema, Increased circulating IgE level, ... OMIM:618282
Immunodeficiency, Common Variable, 10
Psoriasiform dermatitis, Hypoglycemia, Decreased response to growth hormone stimulation test, Ant... OMIM:615577
Prolidase Deficiency
Hepatomegaly, Eczema, Hyperimidodipeptiduria, Splenomegaly, Recurrent pneumonia, Crusting erythem... OMIM:170100
Primary Sjögren Syndrome
Normocytic anemia, Myositis, Chronic active hepatitis, Xerostomia, Tubulointerstitial nephritis, ... ORPHA:289390
Immunodeficiency 81
Decreased proportion of CD4-positive T cells, Recurrent cutaneous abscess formation, Autoimmune h... OMIM:619374
Fanconi Anemia, Complementation Group V
Anemia, Bone marrow hypocellularity, Thrombocytopenia, Neutropenia OMIM:617243
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4
Agammaglobulinemia, Decreased circulating antibody level OMIM:616911
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Splenomegaly, 3-Methylglutaconic aciduria OMIM:619813
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization
Nephrotic syndrome, Renal insufficiency, Glomerular deposits, Glomerulonephritis ORPHA:69063
Primary Sclerosing Cholangitis
Abnormal eosinophil morphology, Uveitis, Hepatic fibrosis, Neoplasm of the gallbladder, Hepatomeg... ORPHA:171
Combined Immunodeficiency Due To Dock8 Deficiency
Recurrent bacterial skin infections, Pneumonia, Increased circulating IgE level, Atopic dermatiti... ORPHA:217390
Gnathodiaphyseal Dysplasia
Osteopenia, Bowing of the long bones, Osteomyelitis, Diaphyseal cortical sclerosis, Increased sus... OMIM:166260
Hemophagocytic Lymphohistiocytosis, Familial, 4
Splenomegaly, Anemia, Hemophagocytosis, Neutropenia, Thrombocytopenia OMIM:603552
Immunodeficiency 67
Liver abscess, Transient neutropenia, Increased circulating IgE level OMIM:607676
Folate Malabsorption, Hereditary
Leukopenia, Folate-responsive megaloblastic anemia, Thrombocytopenia, Neutropenia OMIM:229050
Q Fever
Rheumatoid factor positive, Abnormality of the liver, Cholecystitis, Lupus anticoagulant, Infecti... ORPHA:781
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Hemolytic anemia, Acute pancreatitis, Rheumatoid factor positive, Abscess, Eczema, Perianal absce... OMIM:618935
Mast Cell Sarcoma
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis ORPHA:66661
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis
Membranoproliferative glomerulonephritis, Proteinuria, Hematuria, Nephrotic syndrome, Decreased c... OMIM:613913
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Splenomegaly, Leukocytosis, Decreased circulating antibody level OMIM:618042
Focal Segmental Glomerulosclerosis 10
Renal insufficiency, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disea... OMIM:256020
Immunodeficiency 19
Chronic diarrhea, T lymphocytopenia, Abnormal B cell morphology, Recurrent otitis media, Abnormal... OMIM:615617
Hypertriglyceridemia 1
Precocious atherosclerosis OMIM:145750
Immunodeficiency 40
Rectal fistula, Chronic diarrhea, Recurrent pneumonia, Eosinophilic granuloma, T lymphocytopenia,... OMIM:616433
Lymphatic Filariasis
Proteinuria, Glomerulonephritis, Abnormality of the kidney, Circulating immune complexes, Lymphad... ORPHA:2035
Lymphangiectasia, Intestinal
Lymphopenia, Intestinal lymphangiectasia, Decreased circulating IgG level OMIM:152800
Immunodeficiency, Common Variable, 13
Acute lymphoblastic leukemia, Pancytopenia, B lymphocytopenia, Decreased circulating antibody level OMIM:616873
Coccidioidomycosis
Abnormality of the spleen, Increased circulating IgG level, Abnormality of the liver, Morbillifor... ORPHA:228123
Erythroleukemia, Familial, Susceptibility To
Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro... OMIM:133180
Granulomatous Disease, Chronic, Autosomal Recessive, 3
Abdominal pain, Diarrhea, Colitis, Anoperineal fistula, Recurrent aphthous stomatitis, Recurrent ... OMIM:613960
Macrophage Activation Syndrome
Hepatomegaly, Increased circulating interleukin 6 concentration, Increased inflammatory response,... ORPHA:158061
Spinocerebellar Ataxia, Autosomal Recessive 23
Neutropenia OMIM:616949
Immunodeficiency 69
Pancytopenia, Skin rash, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Failure ... OMIM:618963
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level OMIM:300861
Sézary Syndrome
Hepatomegaly, Abnormal immunoglobulin level, Splenomegaly, Lymphadenopathy, Erythroderma, Abnorma... ORPHA:3162
Sodium-Dependent Multivitamin Transporter Deficiency
Decreased circulating IgG level OMIM:618973
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Chronic gastritis, Liver abscess, Cholangitis, Cholecystitis, Decreased circulating IgG level, Ps... ORPHA:183675
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Splenomegaly, Jaundice, Nonspherocytic hemolytic anemia OMIM:206400
Abdominal Obesity-Metabolic Syndrome 4
Accelerated atherosclerosis, Hypertension, Coronary artery atherosclerosis, Myocardial infarction OMIM:618620
Congenital Disorder Of Glycosylation, Type Iir
Decreased proportion of CD4-positive T cells, Hepatomegaly, Hypospadias, Jaundice, Micronodular c... OMIM:301045
Hyperlipoproteinemia, Type Ii, And Deafness
Type IV atherosclerotic lesion OMIM:144300
Tangier Disease
Myocardial infarction, Facial diplegia, Distal amyotrophy, Left ventricular hypertrophy, Coronary... OMIM:205400
Ataxia-Telangiectasia
Failure to thrive, Diabetes mellitus, Abnormal testis morphology, Decreased circulating antibody ... ORPHA:100
Immunodeficiency By Defective Expression Of Mhc Class Ii
Sinusitis, Abnormal CD4:CD8 ratio, Acute otitis media, T lymphocytopenia, Neutropenia, Autoimmune... ORPHA:572
Neutropenia, Severe Congenital, 8, Autosomal Dominant
Neutropenia OMIM:618752
Bone Marrow Failure Syndrome 6
Persistence of hemoglobin F, Increased mean corpuscular volume, Bone marrow hypocellularity, Neut... OMIM:618849
Familial Hemophagocytic Lymphohistiocytosis
Increased circulating interleukin 6 concentration, Increased circulating interferon-gamma concent... ORPHA:540
Nephrotic Syndrome, Type 16
Hematuria, Nephrotic syndrome, Proteinuria, Minimal change glomerulonephritis OMIM:617783
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Neutropenia, B lymphocytopenia, Intermittent throm... OMIM:150550
Immunodeficiency 7
Hepatomegaly, Autoimmune hemolytic anemia, Chronic oral candidiasis, Autoimmunity, Splenomegaly, ... OMIM:615387
Apolipoprotein A-I Deficiency
Atherosclerosis, Angina pectoris, Premature coronary artery atherosclerosis ORPHA:425
Primary Intestinal Lymphangiectasia
Decreased circulating IgG level, Peritoneal effusion, Weight loss, Decreased circulating antibody... ORPHA:90362
Erythrocytosis, Familial, 7
Increased hematocrit, Polycythemia OMIM:617981
Fish-Eye Disease
Angina pectoris, Atherosclerosis ORPHA:79292
Pseudoxanthoma Elasticum, Forme Fruste
Gastrointestinal hemorrhage, Medial calcification of large arteries, Angina pectoris, Premature o... OMIM:177850
Pyoderma Gangrenosum
Myositis, Pustule, Inflammation of the large intestine, Increased circulating antibody level, Rhe... ORPHA:48104
Immunodeficiency 68
Recurrent skin infections, Abscess, Lymphadenitis, T lymphocytopenia, B lymphocytopenia, Septic a... OMIM:612260
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Splenomegaly, Recurrent pancreatitis OMIM:118830
Poems Syndrome
Lymphadenopathy, Increased circulating antibody level, Thrombocytosis, Ascites, Polycythemia, Vis... ORPHA:2905
Pseudomyxoma Peritonei
Nausea and vomiting, Intestinal obstruction, Abdominal pain, Inflammation of the large intestine,... ORPHA:26790
Autoimmune Polyendocrinopathy Type 4
Atrophic gastritis, Xerostomia, Tubulointerstitial nephritis, Leukopenia, Hashimoto thyroiditis, ... ORPHA:227990
Arteriosclerosis, Severe Juvenile
Myocardial infarction, Central retinal vessel vascular tortuosity, Calcification of the aorta, Ar... OMIM:208060
X-Linked Agammaglobulinemia
Recurrent cutaneous abscess formation, Sinusitis, Osteomyelitis, Autoimmunity, Abnormality of the... ORPHA:47
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Hepatomegaly, Pancytopenia, Failure to thrive in infancy, Autoimmunity, Portal hypertension, Hype... OMIM:613385
Igg4-Related Retroperitoneal Fibrosis
Normocytic anemia, Rheumatoid factor positive, Anti-thyroid peroxidase antibody positivity, Hashi... ORPHA:49041
Livedoid Vasculopathy
Pancytopenia, Autoimmunity, Antinuclear antibody positivity, Leukocytosis, Abnormality of complem... ORPHA:542643
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
T lymphocytopenia, Recurrent aspiration pneumonia, Hepatomegaly, Portal hypertension, Hepatosplen... ORPHA:79124
Transcobalamin Ii Deficiency
Hepatomegaly, Macrocytic anemia, Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Decreased... OMIM:275350
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Macrocytic anemia, Pancytopenia, Autoimmunity, Anemia of inadequate production, Megaloblastic ane... OMIM:617780
Pauci-Immune Glomerulonephritis
Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hematuria, Antinuclear antibody... ORPHA:93126
Indolent Systemic Mastocytosis
Hepatomegaly, Maculopapular exanthema, Skin rash, Splenomegaly, Lymphadenopathy, Increased propor... ORPHA:98848
Cerebral Autosomal Recessive Arteriopathy-Subcortical Infarcts-Leukoencephalopathy
Arteriosclerosis, Stroke, Vascular granular osmiophilic material deposition, Stroke-like episode ORPHA:199354
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231242
Autoimmune Polyendocrinopathy Type 3
Atrophic gastritis, Autoimmune hypoparathyroidism, Xerostomia, Tubulointerstitial nephritis, Leuk... ORPHA:227982
Wolfram Syndrome, Mitochondrial Form
Sideroblastic anemia, Neutropenia, Thrombocytopenia, Megaloblastic anemia OMIM:598500
Felty Syndrome
Episcleritis, Hepatomegaly, Pericarditis, Sinusitis, Recurrent urinary tract infections, Autoimmu... ORPHA:47612
Palmoplantar Keratoderma, Epidermolytic, 1
Increased circulating IgE level OMIM:144200
Microcephalic Primordial Dwarfism, Toriello Type
Decreased circulating total IgM, Decreased circulating IgG level, Neutropenia ORPHA:2643
Classical-Like Ehlers-Danlos Syndrome Type 1
Gastrointestinal hemorrhage, Skeletal muscle atrophy, Precocious atherosclerosis, Stroke, Arrhythmia ORPHA:230839
Sea-Blue Histiocyte Disease
Foam cells OMIM:269600
Ataxia-Telangiectasia
Decreased circulating IgG level, Lymphopenia, Diabetes mellitus, Sinusitis, Female hypogonadism, ... OMIM:208900
Anemia, Congenital Dyserythropoietic, Type Ib
Hepatomegaly, Reticulocytosis, Anisocytosis, Anemia of inadequate production, Splenomegaly, Jaund... OMIM:615631
Dyskeratosis Congenita, Autosomal Recessive 8
Pancytopenia, Esophageal stricture, Pancolitis, Inflammation of the large intestine, B lymphocyto... OMIM:620133
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Thrombocytopenia, Congenital thrombocytopenia, Anemia, Neutropenia OMIM:616738
Roifman Syndrome
Hypogonadotropic hypogonadism, Eosinophilia, Eczema, Recurrent pneumonia, Lymphadenopathy, Decrea... ORPHA:353298
Pparg-Related Familial Partial Lipodystrophy
Calf muscle pseudohypertrophy, Congestive heart failure, Abnormality of skeletal muscle fiber siz... ORPHA:79083
Bone Marrow Failure Syndrome 4
Eczema, Decreased circulating antibody level, Anemia, Leukopenia, Bone marrow hypocellularity, Th... OMIM:618116
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... ORPHA:251380
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Failure to thrive, Recurrent skin infections, Decreased circulating IgA level, Decreased circulat... OMIM:617744
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections
Eczema, Eosinophilia, Keratitis, Increased circulating IgE level, Bronchiectasis, Recurrent otiti... OMIM:618523
Cholesteryl Ester Storage Disease
Arteriosclerosis ORPHA:75234
Pseudoxanthoma Elasticum
Gastrointestinal hemorrhage, Accelerated atherosclerosis, Angina pectoris, Congestive heart failu... OMIM:264800
Subacute Inflammatory Demyelinating Polyneuropathy
Increased circulating IgG level, Leukocytosis ORPHA:206594
Nephrotic Syndrome, Type 15
Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease, Minimal change... OMIM:617609
Immunodeficiency 35
Increased circulating IgE level OMIM:611521
Hemoglobin E Disease
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... ORPHA:2133
Good Syndrome
Abnormal leukocyte morphology, Recurrent urinary tract infections, Diabetes mellitus, Sinusitis, ... ORPHA:169105
Myeloma, Multiple
Paraproteinemia OMIM:254500
Igg4-Related Thyroid Disease
Pancreatic fibrosis, Autoimmunity, Increased circulating IgG4 level, Retroperitoneal fibrosis, An... ORPHA:64744
Galactosemia Iii
Hepatomegaly, Splenomegaly, Jaundice, Aminoaciduria, Galactosuria, Failure to thrive OMIM:230350
Immunoglobulin Kappa Light Chain Deficiency
Diarrhea, Chronic diarrhea, Abnormal immunoglobulin level OMIM:614102
Immunodeficiency 16
Splenomegaly, Pancytopenia, Coombs-positive hemolytic anemia OMIM:615593
Common Variable Immunodeficiency
Hemolytic anemia, Failure to thrive in infancy, Pneumonia, Autoimmune thrombocytopenia, Splenomeg... ORPHA:1572
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Eosinophilic infiltration of the esophagus, Perianal abscess, Leukocytosis, Increased circulating... OMIM:618213
Morbid Obesity And Spermatogenic Failure
Congestive heart failure, Hypertension, Myocardial infarction, Premature coronary artery atherosc... OMIM:615703
Pseudoxanthoma Elasticum-Like Disorder With Multiple Coagulation Factor Deficiency
Epistaxis, Atherosclerosis OMIM:610842
Immunodeficiency 15A
Decreased proportion of CD8-positive T cells, Chronic mucocutaneous candidiasis, Recurrent otitis... OMIM:618204
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Splenomegaly, Reduced red cell py... ORPHA:766
Necrobiosis Lipoidica
Granuloma, Abnormality of neutrophil physiology ORPHA:542592
Omenn Syndrome
Hepatomegaly, Failure to thrive, Autoimmunity, Eosinophilia, Pneumonia, Splenomegaly, Leukocytosi... ORPHA:39041
Galactose Epimerase Deficiency
Hepatomegaly, Splenomegaly, Jaundice, Weight loss, Aminoaciduria ORPHA:79238
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... ORPHA:231154
Familial Cold Autoinflammatory Syndrome 2
Skin rash, Erythema nodosum, Splenomegaly, Leukocytosis, Lymphadenopathy, Arthritis, Recurrent ap... OMIM:611762
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Hepatomegaly, Splenomegaly, Lymphadenopathy, Hyperhidrosis, Weight loss ORPHA:86893
Aorto-Ventricular Tunnel
Abnormal coronary artery morphology, Aorto-ventricular tunnel, Congestive heart failure, Heart mu... ORPHA:3400
Agammaglobulinemia 9, Autosomal Recessive
Seborrheic dermatitis, Agammaglobulinemia, Eczematoid dermatitis, Absent circulating B cells, Fai... OMIM:619693
Complement Factor I Deficiency
Renal insufficiency, Recurrent urinary tract infections, Recurrent skin infections, Glomeruloneph... OMIM:610984
Immunodeficiency 47
Normocytic anemia, Accessory spleen, Hepatomegaly, Hepatic bridging fibrosis, Splenomegaly, Chole... OMIM:300972
Classic Hodgkin Lymphoma
Hepatomegaly, Skin rash, Splenomegaly, Lymphadenopathy, Weight loss, Hyperhidrosis, Bone marrow h... ORPHA:391
Red Cell Phospholipid Defect With Hemolysis
Splenomegaly, Intermittent jaundice, Reticulocytosis OMIM:179700
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections
Skin rash, Eosinophilia, Increased circulating IgE level, Recurrent pneumonia, Chronic mucocutane... OMIM:147060
Melorheostosis, Isolated
Hyperostosis, Increased bone mineral density OMIM:155950
Sneddon Syndrome
Decreased circulating total IgM, Antiphospholipid antibody positivity, Lymphopenia OMIM:182410
Igg4-Related Pachymeningitis
Sinusitis, Eosinophilia, Increased circulating IgG4 level, Lymphadenitis, Complement deficiency, ... ORPHA:449427
Familial Partial Lipodystrophy, Dunnigan Type
Congestive heart failure, Abnormality of skeletal muscle fiber size, Skeletal muscle hypertrophy,... ORPHA:2348
Slc35A1-Cdg
Giant platelets, Abnormal platelet granules, Thrombocytopenia, Neutropenia ORPHA:238459
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Methemoglobinemia, Polycythemia OMIM:250800
Hemochromatosis, Type 3
Lymphopenia, Anemia, Neutropenia OMIM:604250
Immunodeficiency 58
Recurrent cutaneous abscess formation, Helicobacter pylori infection, Eczema, Allergic rhinitis, ... OMIM:618131
Galloway-Mowat Syndrome 2, X-Linked
Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Nephrotic syndrom... OMIM:301006
Lecithin:Cholesterol Acyltransferase Deficiency
Foam cells OMIM:245900
Autoimmune Interstitial Lung, Joint, And Kidney Disease
Antinuclear antibody positivity, Arthritis, Crescentic glomerulonephritis, Mesangial hypercellula... OMIM:616414
Linear Iga Dermatosis
Inflammation of the large intestine ORPHA:46488
Dehydrated Hereditary Stomatocytosis 2
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Increase... OMIM:616689
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Proteinuria, Heparan sulfate excretion in urine, Thrombocytopenia, Hepatosplenomegaly, Anemia, Ne... ORPHA:505248
Panniculitis-Induced Localized Lipodystrophy
Antinuclear antibody positivity, Inflammatory abnormality of the skin, Abnormal immunoglobulin level ORPHA:90159
Deafness-Lymphedema-Leukemia Syndrome
Hepatomegaly, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acute leukemia, Weight loss,... ORPHA:3226
Griscelli Syndrome
Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Jaundice, Hepatitis, Decreased circulatin... ORPHA:381
Immunodeficiency 108 With Autoinflammation
Hyposegmentation of neutrophil nuclei, Impaired neutrophil chemotaxis OMIM:260570
Immunodeficiency 82 With Systemic Inflammation
Decreased proportion of naive T cells, T lymphocytopenia, Colitis, Pustular rash, Hepatitis, Bron... OMIM:619381
Primary Familial Polycythemia
Polycythemia, Abnormal hemoglobin ORPHA:90042
Gm1-Gangliosidosis, Type Iii
Skeletal muscle atrophy, Foam cells OMIM:230650
Lassa Fever
Increased circulating IgM level, Jaundice, Conjunctivitis, Oliguria ORPHA:99824
Microcephaly-Glomerulonephritis-Marfanoid Habitus Syndrome
Chronic kidney disease, Glomerulonephritis ORPHA:2172
Bacterial Toxic-Shock Syndrome
Renal insufficiency, Fasciitis, Sinusitis, Glomerulonephritis, Abscess, Myositis, Pneumonia, Oste... ORPHA:36234
Gaucher Disease Type 1
Hepatomegaly, Pancytopenia, Proteinuria, Hypersplenism, Thrombocytopenia, Splenomegaly, Osteoarth... ORPHA:77259
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia
Abnormal peristalsis, Esophageal food impaction, Lactose intolerance, Esophageal stenosis, Allerg... ORPHA:411696
Pfapa Syndrome
Hepatomegaly, Splenomegaly, Lymphadenopathy, Weight loss, Arthritis, Infectious encephalitis ORPHA:42642
Neonatal Severe Primary Hyperparathyroidism
Hepatomegaly, Abnormality of the thyroid gland, Splenomegaly, Abnormal circulating calcium-phosph... ORPHA:417
Idiopathic Aplastic Anemia
Pancytopenia, Reticulocytopenia, Anemia, Bone marrow hypocellularity, Neutropenia, Thrombocytopenia ORPHA:88
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies
Microcytic anemia, Recurrent pneumonia, Hepatosplenomegaly, Decreased circulating antibody level,... OMIM:619750
Dysbetalipoproteinemia
Accelerated atherosclerosis, Angina pectoris, Type IV atherosclerotic lesion, Tendon xanthomatosi... ORPHA:412
Macrocephaly/Autism Syndrome
Hepatomegaly, Penile freckling, Large for gestational age, Splenomegaly, Obesity, Decreased circu... OMIM:605309
Immunodeficiency, Common Variable, 12, With Autoimmunity
Autoimmune hemolytic anemia, Atrophic gastritis, Recurrent skin infections, Recurrent pneumonia, ... OMIM:616576
Rift Valley Fever
Skin rash, Jaundice, Hepatitis, Uveitis, Hematuria, Increased circulating IgG level, Increased ci... ORPHA:319251
Tako-Tsubo Cardiomyopathy
Abnormal coronary artery morphology, Prolonged QTc interval, Mildly reduced left ventricular ejec... ORPHA:66529
Secondary Short Bowel Syndrome
Abnormal small intestine morphology, Villous atrophy, Aganglionic megacolon, Small intestinal dys... ORPHA:95427
Genetic Steroid-Resistant Nephrotic Syndrome
Diffuse mesangial sclerosis, Foamy urine, Proteinuria, Minimal change glomerulonephritis, Periton... ORPHA:656
Aorta Coarctation
Pseudocoarctation of the aorta, Congestive heart failure, Patent ductus arteriosus, Hypoplastic a... ORPHA:1457
Crimean-Congo Hemorrhagic Fever
Hyperhidrosis, Leukopenia, Increased circulating IgG level, Conjunctivitis, Cholecystitis, Morbil... ORPHA:99827
Idiopathic Steroid-Resistant Nephrotic Syndrome
Diffuse mesangial sclerosis, Foamy urine, Proteinuria, Minimal change glomerulonephritis, Periton... ORPHA:567548
Bloom Syndrome
Uveitis, Otitis media, Decreased circulating IgG level, Decreased proportion of CD4-positive T ce... ORPHA:125
Waldenström Macroglobulinemia
Normocytic anemia, Cryoglobulinemia, Renal insufficiency, Hepatomegaly, Abnormality of neutrophil... ORPHA:33226
Spherocytosis, Type 5
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count... OMIM:612690
Mevalonic Aciduria
Normocytic hypoplastic anemia, Failure to thrive in infancy, Skin rash, Fluctuating splenomegaly,... OMIM:610377
Leukocyte Adhesion Deficiency
Sinusitis, Severe periodontitis, Conjunctivitis, Otitis media, Vaginitis, Polycythemia, Hemolytic... ORPHA:2968
Immunodeficiency 17
Autoimmune hemolytic anemia, Eczema, Decreased proportion of CD8-positive T cells, Chronic decrea... OMIM:615607
Anemia, Congenital Dyserythropoietic, Type Ii
Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Cholelithiasis OMIM:224100
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Impaired neutrophil bactericidal activity, Splenomegaly, Spontaneous hemolytic crises, Nonspheroc... OMIM:613470
Subcorneal Pustular Dermatosis
Increased circulating antibody level, Autoimmunity, Rheumatoid arthritis, Systemic lupus erythema... ORPHA:48377
Amyloidosis, Familial Visceral
Hepatomegaly, Proteinuria, Skin rash, Splenomegaly, Cholestasis, Hematuria, Nephrotic syndrome, N... OMIM:105200
Hypereosinophilic Syndrome, Idiopathic
Myeloproliferative disorder, Splenomegaly, Eosinophilia, Hepatomegaly OMIM:607685
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Hepatomegaly, Proteinuria, Glomerulonephritis, Supernumerary nipple, Stage 5 chronic kidney disea... OMIM:614376
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant
Celiac disease, Increased circulating IgE level, Eczema, Thyroiditis OMIM:618985
Nephrotic Syndrome, Type 6
Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Focal segmental g... OMIM:614196
Idiopathic Chronic Eosinophilic Pneumonia
Autoimmunity, Leukocytosis, Increased circulating IgE level, Hypereosinophilia, Atopic dermatitis... ORPHA:2902
Lambert Syndrome
Hypospadias, Failure to thrive in infancy, Jaundice, Cholestasis, Decreased circulating antibody ... ORPHA:1296
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Accelerated atherosclerosis, Abnormal atrioventricular conduction, Supraventricular arrhythmia, P... ORPHA:280365
Immunodeficiency 31C
Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Autoimmune hemolytic an... OMIM:614162
Alpha-Thalassemia
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ... ORPHA:846
Classic Mycosis Fungoides
Hepatomegaly, Skin rash, Eczema, Splenomegaly, Lymphadenopathy, Abnormal lymphocyte morphology ORPHA:2584
Maternal Uniparental Disomy Of Chromosome 1
Hepatomegaly, Pancytopenia, Type I diabetes mellitus, Failure to thrive, Panhypogammaglobulinemia ORPHA:251009
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature
Decreased circulating total IgM, Bronchiectasis OMIM:615139
Hypertriglyceridemia, Transient Infantile
Hepatomegaly, Splenomegaly, Hepatic fibrosis, Failure to thrive, Hepatic steatosis OMIM:614480
Majeed Syndrome
Hepatomegaly, Inflammatory abnormality of the skin, Osteomyelitis, Proteinuria, Acne, Microscopic... ORPHA:77297
Niemann-Pick Disease, Type B
Foam cells with lamellar inclusion bodies, Bone-marrow foam cells OMIM:607616
Aicardi-Goutieres Syndrome 6
Hemolytic anemia, Hepatomegaly, Chilblains, Splenomegaly, Thrombocytopenia OMIM:615010
Erythrocytosis, Familial, 2
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin OMIM:263400
Igg4-Related Ophthalmic Disease
Sinusitis, Eosinophilia, Increased circulating IgG4 level, Cholangitis, Antinuclear antibody posi... ORPHA:449563
Agammaglobulinemia 1, Autosomal Recessive
Recurrent pneumonia, Bronchiectasis, Decreased circulating antibody level, Agammaglobulinemia, B ... OMIM:601495
Paget Disease Of Bone 6
Left ventricular hypertrophy, Coronary artery atherosclerosis OMIM:616833
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Acute myeloid leukemia, Pancytopenia, Thrombocytopenia, Splenomegaly, Hepatosplenomegaly, Acute l... ORPHA:158057
Erythema Elevatum Diutinum
Skin rash, Increased circulating antibody level ORPHA:90000
Alveolar Echinococcosis
Liver abscess, Eosinophilia, Cholangitis, Portal hypertension, Hepatic cysts, Pancreatic cysts, A... ORPHA:284
Cyanosis, Transient Neonatal
Reticulocytosis, Hepatomegaly, Jaundice, Methemoglobinemia, Anemia OMIM:613977
Immunodeficiency 54
Hepatomegaly, Splenomegaly, Lymphadenopathy, Adrenocorticotropic hormone excess, Adrenal insuffic... OMIM:609981
Immunoneurologic Disorder, X-Linked
Decreased circulating IgG2 level, Functional abnormality of the bladder, Small for gestational age OMIM:300076
Omenn Syndrome
Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Pneumonia, Splenomegaly, Thrombocytopenia, ... OMIM:603554
Aggressive Systemic Mastocytosis
Pancytopenia, Hypersplenism, Thrombocytopenia, Leukocytosis, Hepatosplenomegaly, Increased propor... ORPHA:98850
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Premature coronary artery atherosclerosis OMIM:620058
Esophagitis, Eosinophilic, 2
Vomiting, Esophagitis, Dysphagia OMIM:613412
Esophagitis, Eosinophilic, 1
Vomiting, Esophagitis, Dysphagia OMIM:610247
Inflammatory Pseudotumor Of The Liver
Diabetes mellitus, Increased hepatitis B virus antibody level, Abnormal liver sonography, Autoimm... ORPHA:90003
Osteopetrosis, Autosomal Recessive 7
Hepatomegaly, Splenomegaly, Recurrent pneumonia, Decreased circulating total IgM, Decreased circu... OMIM:612301
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Hypertension, Coronary artery atherosclerosis, Arterial stenosis, Cerebral artery atherosclerosis ORPHA:1192
Follicular Lymphoma
Abnormal peritoneum morphology, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Weigh... ORPHA:545
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency
Angina pectoris, Premature coronary artery atherosclerosis ORPHA:140905
Peeling Skin Syndrome 1
Increased circulating IgE level, Palmoplantar hyperhidrosis, Eosinophilia, Erythroderma OMIM:270300
Cyclic Neutropenia
Sinusitis, Recurrent skin infections, Cyclic neutropenia, Abdominal pain, Perianal abscess, Perit... ORPHA:2686
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Leukopenia, Lupus anticoagulant, Hashimoto thyroiditis, Hepatomegaly, Renal artery aneurysm, Port... OMIM:615688
Glutamate-Cysteine Ligase Deficiency
Hemolytic anemia, Jaundice, Reticulocytosis, Hepatosplenomegaly ORPHA:33574
Leukocyte Adhesion Deficiency, Type Iii
Hepatomegaly, Extramedullary hematopoiesis, Recurrent skin infections, Splenomegaly, Leukocytosis... OMIM:612840
Thrombocytopenia With Beta-Thalassemia, X-Linked
Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Increased mean platelet volu... OMIM:314050
Mastocytosis, Cutaneous
Cutaneous mastocytosis OMIM:154800
Pediatric Systemic Lupus Erythematosus
Myositis, Leukopenia, Decreased circulating complement C4 concentration, Lupus anticoagulant, Nep... ORPHA:93552
Specific Granule Deficiency 2
Absent neutrophil specific granules, Thrombocytopenia, Anemia, Neutropenia OMIM:617475
T-Cell Immunodeficiency With Thymic Aplasia
Recurrent urinary tract infections, Decreased proportion of naive T cells, Aplasia of the thymus,... ORPHA:83471
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... ORPHA:3203
Heme Oxygenase 1 Deficiency
Hemolytic anemia, Increased circulating interleukin 6 concentration, Hepatomegaly, Proteinuria, A... OMIM:614034
Nephrotic Syndrome, Type 11
Diffuse mesangial sclerosis, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidn... OMIM:616730
Netherton Syndrome
Failure to thrive, Recurrent skin infections, Eczema, Allergic rhinitis, Increased circulating Ig... OMIM:256500
Immunodeficiency 42
Hepatomegaly, Splenomegaly, Recurrent cutaneous fungal infections, Hypoplasia of the thymus, Recu... OMIM:616622
Cryoglobulinemic Vasculitis
Hepatomegaly, Renal insufficiency, Viral hepatitis, Proteinuria, Glomerulopathy, Circulating immu... ORPHA:91138
Autosomal Agammaglobulinemia
Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections, Hepatitis, Bronchiectasis, Agamma... ORPHA:33110
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Thrombocytopenia, Anemia, Neutropenia ORPHA:289916
Immunodeficiency 59 And Hypoglycemia
Hepatomegaly, Complete or near-complete absence of specific antibody response to unconjugated pne... OMIM:233600
Autosomal Dominant Severe Congenital Neutropenia
Acute myeloid leukemia, Aplastic anemia, Eosinophilia, Acute lymphoblastic leukemia, Monocytosis,... ORPHA:486
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Anemia, Neutropenia OMIM:617056
Pelger-Huet Anomaly
Abnormality of neutrophils, Hyposegmentation of neutrophil nuclei, Giant platelets, Neutropenia, ... OMIM:169400
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Sideroblastic anemia, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, Decreased circ... OMIM:616084
Inflammatory Skin And Bowel Disease, Neonatal, 1
Villous atrophy, Duodenitis, Pustule, Increased circulating IgE level, Bloody diarrhea, Erythrode... OMIM:614328
Ebola Hemorrhagic Fever
Gastrointestinal hemorrhage, Acute pancreatitis, Maculopapular exanthema, Poor appetite, Abdomina... ORPHA:319218
Hemorrhagic Fever-Renal Syndrome
Increased circulating interleukin 6 concentration, Anuria, Proteinuria, Glomerulonephritis, Pneum... ORPHA:340
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Hepatomegaly, Renal insufficiency, Splenomegaly, Anemia, Neutropenia, Failure to thrive, Pancreat... ORPHA:79312
Gamma-Heavy Chain Disease
Hepatomegaly, Autoimmune hemolytic anemia, Skin rash, Autoimmunity, Autoimmune thrombocytopenia, ... ORPHA:100026
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hepatomegaly, Anisocytosis, Splenomegaly, Jaundice, Hepatosplenomegaly, Decreased mean corpuscula... OMIM:616860
Galloway-Mowat Syndrome 7
Diffuse mesangial sclerosis, Proteinuria, Eczema, Minimal change glomerulonephritis, Stage 5 chro... OMIM:618348
Flynn-Aird Syndrome
Skeletal muscle atrophy, Atherosclerosis ORPHA:2047
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Hypospadias, Glomerulonephritis, Proteinuria, Nephrotic syndrome, Glomerular sclerosis OMIM:619428
Tyrosinemia Type 1
Splenomegaly, Generalized aminoaciduria, Hepatocellular carcinoma, Hepatomegaly ORPHA:882
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Aortic regurgitation, Aortic dissection, Transient ischemic attack, Subarachnoid hemorrhage, Desc... ORPHA:91387
Hypermanganesemia With Dystonia 1
Hepatomegaly, Polycythemia, Cirrhosis OMIM:613280
Infantile Sialic Acid Storage Disease
Hepatomegaly, Cardiomegaly, Splenomegaly, Vacuolated lymphocytes, Nephrotic syndrome, Ascites, Fa... OMIM:269920
Pseudoxanthoma Elasticum
Gastrointestinal hemorrhage, Angina pectoris, Telangiectasia of the skin, Sudden cardiac death, A... ORPHA:758
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Chronic oral candidiasis, Recurrent urinary tract infections, Psoriasiform dermatitis, Decreased ... ORPHA:221139
O'Sullivan-Mcleod Syndrome
Increased circulating antibody level, Eosinophilia ORPHA:99965
Hypocomplementemic Urticarial Vasculitis
Episcleritis, Hepatomegaly, Renal insufficiency, Glomerulopathy, Proteinuria, Autoimmunity, Skin ... ORPHA:36412
Lcat Deficiency
Atherosclerosis, Premature coronary artery atherosclerosis ORPHA:650
Primary Myelofibrosis
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Portal hypertension, Splenomegaly, Leuk... ORPHA:824
Adult-Onset Still Disease
Hepatomegaly, Pericarditis, Generalized lymphadenopathy, Neutrophilia, Skin rash, Splenomegaly, L... ORPHA:829
X-Linked Sideroblastic Anemia
Splenomegaly, Glucose intolerance, Anemia ORPHA:75563
Cholestasis, Progressive Familial Intrahepatic, 12
Hepatomegaly, Proteinuria, Splenomegaly, Jaundice, Cholestasis OMIM:620010
Interstitial Lung Disease 2
Increased circulating antibody level, Cirrhosis OMIM:178500
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Hepatomegaly, Skin rash, Allergic rhinitis, Anemia of inadequate production, Splenomegaly, Jaundi... OMIM:612714
Xq28 (MECP2) duplication
Failure to thrive, Functional abnormality of the bladder, Decreased circulating IgA level DECIPHER:45
Griscelli Syndrome Type 2
Splenomegaly, Pancytopenia, Hemophagocytosis, Neutropenia ORPHA:79477
Lipodystrophy, Congenital Generalized, Type 4
Hepatomegaly, Splenomegaly, Insulin resistance, Recurrent pneumonia, Hyperinsulinemia, Failure to... OMIM:613327
Congenital Disorder Of Glycosylation, Type Iil
Hepatomegaly, Pancytopenia, Impaired T cell function, Unilateral renal agenesis, Splenomegaly, De... OMIM:614576
Paternal Uniparental Disomy Of Chromosome 1
Anhidrosis, Membranoproliferative glomerulonephritis, Proteinuria, Obesity, Macroscopic hematuria... ORPHA:251004
Riddle Syndrome
Decreased circulating IgG level OMIM:611943
Mogs-Cdg
Hepatomegaly, Inappropriate antidiuretic hormone secretion, Cardiomegaly, Decreased circulating a... ORPHA:79330
Congenital Disorder Of Glycosylation, Type Iif
Decreased platelet glycoprotein Ib, Macrothrombocytopenia, Thrombocytopenia, Neutropenia OMIM:603585
Coproporphyria, Hereditary
Hepatomegaly, Splenomegaly, Jaundice, Increased urinary porphobilinogen, Elevated urinary delta-a... OMIM:121300
Acatalasemia
Arteriosclerosis ORPHA:926
Splenoportal Vascular Anomalies
Diabetes mellitus, Anomalous splenoportal venous system, Splenomegaly, Hepatic fibrosis, Cirrhosi... OMIM:271500
Trichohepatoenteric Syndrome 2
Villous atrophy, Diarrhea, Chronic diarrhea, Chronic hepatitis, Bloody diarrhea, Colitis OMIM:614602
Imerslund-Gräsbeck Syndrome
Reticulocytosis, Macrocytic anemia, Pancytopenia, Megaloblastic anemia, Anisopoikilocytosis, Abno... ORPHA:35858
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Decreased circulating cortisol level, Severe B lymphocytopenia, Psoriasiform dermatitis, Decrease... ORPHA:293978
Abcd Syndrome
Polycythemia OMIM:600501
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hepatomegaly, Hypersplenism, Splenomegaly, Anemia, Thrombocytopenia OMIM:610539
Membranoproliferative Glomerulonephritis, X-Linked
Membranoproliferative glomerulonephritis OMIM:305800
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Recurrent urinary tract infections, Sinusitis, Decreased response to growth hormone stimulation t... OMIM:307200
Systemic-Onset Juvenile Idiopathic Arthritis
Hepatomegaly, Pericarditis, Anterior uveitis, Skin rash, Autoimmunity, Splenomegaly, Lymphadenopa... ORPHA:85414
Yellow Fever
Renal insufficiency, Neutrophilia, Anuria, Increased circulating interleukin 6 concentration, Acu... ORPHA:99829
Progressive Familial Intrahepatic Cholestasis
Hepatomegaly, Splenomegaly, Jaundice, Cholestasis, Failure to thrive ORPHA:172
Sickle Cell Anemia
Hemolytic anemia, Reticulocytosis, Pigment gallstones, Microcytic anemia, Abnormality of the sple... ORPHA:232
Celiac Disease, Susceptibility To, 1
Macrocytic anemia, Stomatitis, Eczema, Thyroiditis, Weight loss, Iron deficiency anemia, Recurren... OMIM:212750
Mody
Large for gestational age, Overweight, Transient neonatal diabetes mellitus, Insulin-resistant di... ORPHA:552
Inflammatory Skin And Bowel Disease, Neonatal, 2
Pustule, Failure to thrive, Recurrent pneumonia, Increased circulating IgE level OMIM:616069
Congenital Bile Acid Synthesis Defect Type 1
Hepatomegaly, Splenomegaly, Jaundice, Biliary tract abnormality, Cirrhosis, Failure to thrive, Ne... ORPHA:79301
Familial Partial Lipodystrophy, Köbberling Type
Hypertension, Coronary artery atherosclerosis ORPHA:79084
Tick-Borne Encephalitis
Leukocytosis, Leukopenia, Increased circulating IgG level, Increased circulating IgM level, Myeli... ORPHA:297
Cold Agglutinin Disease
Hepatomegaly, Hemolytic anemia, Autoimmunity, Splenomegaly, Lymphadenopathy ORPHA:56425
Smith-Kingsmore Syndrome
Hypoglycemia, Large for gestational age, Cryptorchidism, Thrombocytopenia, Decreased circulating ... OMIM:616638
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Accessory spleen, Decreased circulating IgG level, Severe B lymphocytopenia, Portal hypertension,... OMIM:620005
Ghosal Hematodiaphyseal Dysplasia
Splenomegaly, Anemia ORPHA:1802
Alg12-Cdg
Decreased serum insulin-like growth factor 1, Hypospadias, Partial absence of specific antibody r... ORPHA:79324
Panbronchiolitis, Diffuse
Foam cells OMIM:604809
Shigellosis
Anorexia, Intestinal perforation, Uveitis, Bloody diarrhea, Paralytic ileus, Conjunctivitis, Vomi... ORPHA:810
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Hypoplasia of penis, Hypospadias, Renal hypoplasia/aplasia, Splenomegaly, Abnormality of the uret... ORPHA:1046
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6
Pancytopenia, Decreased circulating antibody level, Bone marrow hypocellularity, Abnormally low T... OMIM:619767
Amoebiasis Due To Entamoeba Histolytica
Intestinal obstruction, Liver abscess, Lung abscess, Abdominal pain, Gastrointestinal dysmotility... ORPHA:67
Burkitt Lymphoma
Abnormality of the spleen, Abnormality of the pancreas, Abnormal lymph node morphology, Abnormali... ORPHA:543
Epilepsy-Telangiectasia Syndrome
Decreased circulating IgA level, Decreased circulating antibody level ORPHA:1951
Aregenerative Anemia
Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Bone marrow hypocellularity, Neutropenia, ... ORPHA:101096
Legionnaires Disease
Renal insufficiency, Pericarditis, Proteinuria, Splenomegaly, Jaundice, Myocarditis, Hepatitis, E... ORPHA:549
Rasmussen Subacute Encephalitis
Antinuclear antibody positivity, Decreased circulating total IgA, Autoimmunity, Anti-dsDNA antibo... ORPHA:1929
Pneumocystosis
Abnormal neutrophil count, Weight loss, Acute infectious pneumonia, Interstitial pneumonitis, Inc... ORPHA:723
Chediak-Higashi Syndrome
Impaired neutrophil bactericidal activity, Thrombocytopenia, Splenomegaly, Neutropenia, Leukopeni... OMIM:214500
Schimke Immunoosseous Dysplasia
Transient ischemic attack, Arteriosclerosis, Hypertension, Cerebral ischemia, Stroke, Pulmonary a... OMIM:242900
X-Linked Immunoneurologic Disorder
Decreased circulating IgG2 level ORPHA:2571
Hepatoportal Sclerosis
Portal hypertension, Nodular regenerative hyperplasia of liver, Hypersplenism, Splenomegaly, Port... ORPHA:64743
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Impaired lymphocyte transformation with phytohemagglutinin, Decreased lymphocyte proliferation in... OMIM:619313
Hemolytic Disease Of Fetus And Newborn, Rh-Induced
Splenomegaly, Fetal ascites, Hepatomegaly OMIM:619462
Cholestasis, Progressive Familial Intrahepatic, 10
Hepatomegaly, Splenomegaly, Jaundice, Acholic stools, Portal fibrosis, Failure to thrive OMIM:619868
Spondyloarthropathy, Susceptibility To, 1
Anterior uveitis, Psoriasiform dermatitis, Oligoarthritis, Enthesitis, Inflammation of the large ... OMIM:106300
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, N... OMIM:235700
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hepatomegaly, Pancytopenia, Skin rash, Reduced natural killer cell activity, Splenomegaly, Jaundi... OMIM:603553
Bloom Syndrome
Small for gestational age, Elevated hemoglobin A1c, Cryptorchidism, Bronchiectasis, Malar rash, D... OMIM:210900
Glut1 Deficiency Syndrome 2
Splenomegaly, Hemolytic anemia, Reticulocytosis OMIM:612126
Hereditary Pulmonary Alveolar Proteinosis
Tachycardia, Foam cells ORPHA:264675
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Reticulocytosis, Abdominal pain, Intestinal perforation, Pancreatitis, Rectal prolapse, Diarrhea,... ORPHA:90038
Aortic Aneurysm, Familial Thoracic 10
Aortic arch aneurysm, Thoracic aortic aneurysm, Fusiform ascending tubular aorta aneurysm, Ascend... OMIM:617168
Riddle Syndrome
Generalized lymphadenopathy, Pneumonia, Recurrent pneumonia, Weight loss, Enuresis nocturna, Decr... ORPHA:420741
Cryohydrocytosis
Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis OMIM:185020
Hereditary Folate Malabsorption
Pancytopenia, Recurrent urinary tract infections, Eosinophilia, Megaloblastic anemia, Cheilitis, ... ORPHA:90045
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6
Necrotizing enterocolitis, Abdominal pain, Feeding difficulties, High palate, Vomiting OMIM:616809
Anemia, Congenital Dyserythropoietic, Type Iv
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... OMIM:613673
Chronic Myeloid Leukemia
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... ORPHA:521
Beta-Thalassemia Intermedia
Extramedullary hematopoiesis, Abnormality of the liver, Elevated hepatic iron concentration, Eryt... ORPHA:231222
3-Methylglutaconic Aciduria, Type Viia
Anisopoikilocytosis, Anemia, Neutropenia OMIM:619835
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Brain abscess, Neutrophilia, Liver abscess, Abnormality of the kidney, Abnormality of the pancrea... ORPHA:54251
Anemia, Congenital Dyserythropoietic, Type Ia
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Anisocytosis, Anemia of inadequate production, S... OMIM:224120
Sea-Blue Histiocytosis
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Sea-blue histiocytosis, Blepharitis, Thr... ORPHA:158029
Babesiosis
Hemolytic anemia, Renal insufficiency, Hepatomegaly, Splenomegaly, Jaundice, Hyperhidrosis, Leuko... ORPHA:108
Lipodystrophy, Congenital Generalized, Type 3
Hepatomegaly, Diabetes mellitus, Splenomegaly, Insulin resistance, Hepatosplenomegaly, Hepatic st... OMIM:612526
Werner Syndrome
Skeletal muscle atrophy, Telangiectasia of the skin, Myocardial infarction, Abnormal cerebral vas... ORPHA:902
Spherocytosis, Type 2
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis OMIM:616649
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Cerebral hemorrhage, Dilated cardiomyopathy, Hypertension, Ischemic stroke, Coronary artery ather... ORPHA:280679
Japanese Encephalitis
Neutrophilia, Increased circulating IgM level, Increased circulating antibody level, Inappropriat... ORPHA:79139
Pulmonary Hypertension, Primary, 1
Elevated right atrial pressure, Right ventricular failure, Increased pulmonary vascular resistanc... OMIM:178600
Tubulointerstitial Nephritis And Uveitis Syndrome
Normocytic anemia, Sterile pyuria, Renal interstitial edema, Tubulointerstitial nephritis, Aminoa... ORPHA:91500
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Lymphopenia, Decreased circulating antibody level ORPHA:1116
Drug Reaction With Eosinophilia And Systemic Symptoms
Renal insufficiency, Skin rash, Eosinophilia, Pustule, Myocarditis, Hepatitis, Thyroiditis, Weigh... ORPHA:139402
Lipodystrophy, Familial Partial, Type 1
Hypertension, Prominent superficial veins, Coronary artery atherosclerosis OMIM:608600
Developmental And Epileptic Encephalopathy 66
Anemia, Neutropenia OMIM:618067
Hereditary Orotic Aciduria
Orotic acid crystalluria, Impaired T cell function, Splenomegaly, Abnormality of the ureter, Amin... ORPHA:30
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Abnormal renal glomerulus morphology, Renal insufficiency, Membranoproliferative glomerulonephrit... OMIM:137940
Congenital Disorder Of Glycosylation, Type Ig
Decreased circulating IgG level, Small for gestational age, Hypospadias, Hypoglycemia, Cryptorchi... OMIM:607143
Gray Platelet Syndrome
Splenomegaly, Thrombocytopenia ORPHA:721
Sweet Syndrome
Acute myeloid leukemia, Predominantly dermal neutrophilic infiltrate, Myositis, Increased circula... ORPHA:3243
Pyruvate Kinase Deficiency Of Red Cells
Hepatomegaly, Decreased hemoglobin concentration, Reticulocytosis, Reduced red cell pyruvate kina... OMIM:266200
Nephronophthisis 19
Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Stage 5 chronic kidney dise... OMIM:616217
Spherocytosis, Type 4
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis OMIM:612653
Hemochromatosis, Type 2B
Hepatomegaly, Splenomegaly, Hepatic fibrosis, Hypogonadism, Cirrhosis, Anemia OMIM:613313
Congenital Disorder Of Glycosylation, Type Iiw
Hepatomegaly, Failure to thrive, Membranoproliferative glomerulonephritis, Microscopic hematuria,... OMIM:619525
Muckle-Wells Syndrome
Episcleritis, Hepatomegaly, Skin rash, Splenomegaly, Uveitis, Nephrotic syndrome, Arthritis, Conj... ORPHA:575
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Hepatomegaly, Recurrent bacterial skin infections, Liver abscess, Osteomyelitis, Discoid lupus ra... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Hepatomegaly, Recurrent bacterial skin infections, Liver abscess, Osteomyelitis, Discoid lupus ra... OMIM:233710
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Hepatomegaly, Portal hypertension, Splenomegaly, Micronodular cirrhosis, Jaundice, Copper accumul... ORPHA:309854
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Hepatomegaly, Impaired glucose tolerance, Splenomegaly, Chronic kidney disease, Obesity, Cholesta... OMIM:615630
Neonatal Alloimmune Neutropenia
Neutropenia in presence of anti-neutropil antibodies ORPHA:464370
Letterer-Siwe Disease
Thrombocytopenia, Neutropenia, Anemia, Hepatosplenomegaly OMIM:246400
Farber Lipogranulomatosis
Hepatomegaly, Splenomegaly, Arthritis, Lipogranulomatosis, Failure to thrive OMIM:228000
Systemic Sclerosis
Renal insufficiency, Pericarditis, Proteinuria, Glomerulonephritis, Osteomyelitis, Recurrent skin... ORPHA:90291
Alpha-1-Antitrypsin Deficiency
Splenomegaly, Bronchiectasis, Cirrhosis, Hepatocellular carcinoma OMIM:613490
Congenital Disorder Of Glycosylation, Type Ia
Decreased circulating IgG level, Hepatomegaly, Pericarditis, Proteinuria, Hypergonadotropic hypog... OMIM:212065
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Functional abnormality of the bladder, T lymphocytopenia, Infectious encephalitis, Autoimmune thr... ORPHA:391487
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Increased circulating IgE level ORPHA:1858
Aapoaiv Amyloidosis
Atrial flutter, Abnormal cardiac ventricular function, Atrial fibrillation, Cardiac conduction ab... ORPHA:439232
Dyskeratosis Congenita, Digenic
Failure to thrive, Decreased circulating total IgM, Decreased circulating IgG level, Decreased te... OMIM:620040
Roifman Syndrome
Hepatomegaly, Eczema, Eosinophilia, Splenomegaly, Recurrent pneumonia, Lymphadenopathy, Recurrent... OMIM:616651
Lipodystrophy Due To Peptidic Growth Factors Deficiency
Flexion contracture, Atherosclerosis ORPHA:1979
Cholestasis-Lymphedema Syndrome
Hepatomegaly, Splenomegaly, Jaundice, Cirrhosis, Erysipelas, Neonatal cholestatic liver disease OMIM:214900
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Hepatomegaly, Recurrent bacterial skin infections, Liver abscess, Osteomyelitis, Discoid lupus ra... OMIM:233690
Onychotrichodysplasia And Neutropenia
Lymphocytosis, Chronic neutropenia, Neutropenia OMIM:258360
Pancreatic Agenesis 2
Diabetes mellitus, Small for gestational age, Pancreatic aplasia, Steatorrhea, Pancreatic hypopla... OMIM:615935
Aicardi-Goutieres Syndrome 7
Hemolytic anemia, Pancytopenia, Generalized lymphadenopathy, Hepatomegaly, Atrophic gastritis, Ch... OMIM:615846
Osteopetrosis, Autosomal Recessive 8
Hepatomegaly, Splenomegaly, Anemia, Failure to thrive, Thrombocytopenia OMIM:615085
Dystrophic Epidermolysis Bullosa Pruriginosa
Increased circulating IgE level ORPHA:89843
Secondary Intestinal Lymphangiectasia
Decreased circulating IgG1 level, Autoimmunity, Chylous ascites, Decreased circulating antibody l... ORPHA:90363
Aspergillosis
Sinusitis, Osteomyelitis, Eosinophilia, Pneumonia, Abnormality of the kidney, Keratitis, Increase... ORPHA:1163
Caffey Disease
Increased circulating antibody level ORPHA:1310
Spherocytosis, Type 1
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Cholelithiasis OMIM:182900
Harderoporphyria
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Increased urine harderoporphyrin level, Splenome... OMIM:618892
Congenital Rubella Syndrome
Hepatomegaly, Skin rash, Splenomegaly, Jaundice, Anemia, Type I diabetes mellitus, Thrombocytopenia ORPHA:290
Primary Triglyceride Deposit Cardiomyovasculopathy
Angina pectoris, Increased muscle lipid content, Abnormality of the calf musculature, Cardiomyopa... ORPHA:565612
Neonatal Lupus Erythematosus
Hemolytic anemia, Pancytopenia, Aplastic anemia, Splenomegaly, Anemia, Neutropenia, Thrombocytopenia ORPHA:398124
Pediatric-Onset Graves Disease
Episcleritis, Hepatomegaly, Autoimmunity, Keratitis, Splenomegaly, Anti-thyroid peroxidase antibo... ORPHA:525731
Gaucher Disease, Type Iii
Hepatomegaly, Pancytopenia, Splenomegaly, Decreased body weight, Thrombocytopenia OMIM:231000
Immunodeficiency 56
Cholangitis, Recurrent pneumonia, Bronchiectasis, Cirrhosis, Chronic hepatitis due to cryptospori... OMIM:615207
Wolman Disease
Hepatomegaly, Adrenal calcification, Cachexia, Bone-marrow foam cells, Splenomegaly, Adrenal insu... ORPHA:75233
Hemochromatosis, Type 2A
Hepatomegaly, Hypogonadotropic hypogonadism, Splenomegaly, Arthritis, Cirrhosis OMIM:602390
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hepatomegaly, Splenomegaly, Decreased mean corpuscular volume, Poikilocytosis, Elevated hepatic i... OMIM:615234
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Pancytopenia, Autoimmunity, Splenomegaly, Panniculitis, Hemophagocytosis, Anemia OMIM:618398
Lead Poisoning
Small for gestational age, Skin rash, Chronic kidney disease, Imbalanced hemoglobin synthesis, In... ORPHA:330015
Wilson Disease
Hepatomegaly, Splenomegaly, Jaundice, Increased body weight, Hepatitis, Weight loss, Anemia, Arth... ORPHA:905
Nodular Non-Suppurative Panniculitis
Hepatomegaly, Autoimmunity, Splenomegaly, Weight loss, Panniculitis, Inflammatory abnormality of ... ORPHA:33577
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Minimal change glomerulonephritis, Chronic kidney disease, Stage 5 chronic kidney disease, Hydroc... ORPHA:567546
Glycogen Storage Disease Ixb
Splenomegaly, Increased hepatic glycogen content, Hypoglycemia, Hepatomegaly OMIM:261750
Niemann-Pick Disease, Type A
Hepatomegaly, Bone-marrow foam cells, Microcytic anemia, Splenomegaly, Lymphadenopathy, Ascites, ... OMIM:257200
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency
Thrombocytopenia, Bone marrow hypocellularity, Anemia, Neutropenia OMIM:614520
Nk-Cell Enteropathy
Colonic diverticula, Duodenal ulcer, Abdominal pain, Abnormal gastric mucosa morphology, Diarrhea... ORPHA:263665
Sarcoidosis, Susceptibility To, 1
Hepatomegaly, Pancytopenia, Abnormality of T cell physiology, Generalized lymphadenopathy, Spleno... OMIM:181000
Acute Panmyelosis With Myelofibrosis
Acute myeloid leukemia, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia, Bone marrow hy... ORPHA:86843
Hypercholesterolemia, Familial, 1
Tendon xanthomatosis, Coronary artery atherosclerosis OMIM:143890
Immunodeficiency 110 With Lymphoproliferation
Autoimmune hemolytic anemia, Lymphopenia, Neutropenia OMIM:614868
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Agammaglobulinemia, Cryptorchidism, Hypospadias, Decreased circulating antibody level OMIM:616910
Diamond-Blackfan Anemia 11
Bone marrow hypocellularity, Anemia of inadequate production, Neutropenia OMIM:614900
Alport Syndrome 3A, Autosomal Dominant
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Glomerulonephritis, S... OMIM:104200
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Jaundice, Poikilocytosis, Prolonged ne... OMIM:300908
Mixed Connective Tissue Disease
Hemolytic anemia, Hepatomegaly, Myositis, Pericarditis, Autoimmunity, Skin rash, Gastritis, Splen... ORPHA:809
Actinic Prurigo
Cheilitis, Pyoderma, Glomerulonephritis OMIM:174770
Cinca Syndrome
Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Leukocytosis, Retrobulbar optic neuritis,... ORPHA:1451
Thrombocytopenia, Anemia, And Myelofibrosis
Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia OMIM:617441
Neuraminidase Deficiency
Hepatomegaly, Urinary excretion of sialylated oligosaccharides, Proteinuria, Bone-marrow foam cel... OMIM:256550
Propionic Acidemia
Thrombocytopenia, Pancytopenia, Anemia, Neutropenia OMIM:606054
Combined Immunodeficiency Due To Crac Channel Dysfunction
Hemolytic anemia, Hepatomegaly, Anhidrosis, Autoimmunity, Pneumonia, Splenomegaly, Lymphadenopath... ORPHA:169090
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Normochromic anemia, Thrombocytopenia, Neutropenia OMIM:614857
Free Sialic Acid Storage Disease
Hepatomegaly, Proteinuria, Failure to thrive in infancy, Splenomegaly, Nephrotic syndrome, Ascites ORPHA:834
Glycosylphosphatidylinositol Biosynthesis Defect 1
Portal vein thrombosis, Splenomegaly, Portal hypertension, Hepatomegaly OMIM:610293
Dominant Beta-Thalassemia
Extramedullary hematopoiesis, Anisocytosis, Hepatic fibrosis, Hypothyroidism, Hypoparathyroidism,... ORPHA:231226
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Hypospadias, Large for gestational age, Cryptorchidism, Neonatal hypoglycemia, Decreased circulat... ORPHA:457485
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Splenomegaly, Jaundice, Cholestasis, Hepatic fibrosis, Hepatic bridging fibrosis OMIM:619658
Ornithine Transcarbamylase Deficiency
Splenomegaly, Aminoaciduria, Hypoglycemia ORPHA:664
Whim Syndrome
Sinusitis, Severe periodontitis, Pneumonia, Lymphadenitis, Recurrent pneumonia, Abnormal neutroph... ORPHA:51636
Hurler-Scheie Syndrome
Splenomegaly, Rhinitis, Abnormality of the tonsils, Hepatomegaly ORPHA:93476
Proteasome-Associated Autoinflammatory Syndrome 4
Hepatomegaly, Autoimmune hemolytic anemia, Myositis, Splenomegaly, Lymphadenopathy, Panniculitis OMIM:619183
Chédiak-Higashi Syndrome
Abnormal leukocyte morphology, Pancytopenia, Thrombocytopenia, Splenomegaly, Vacuolated lymphocyt... ORPHA:167
Evans Syndrome
Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, Autoimmune thr... ORPHA:1959
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Acute myeloid leukemia, Hepatomegaly, Neutrophilia, Eosinophilia, Splenomegaly... ORPHA:98849
Cholestasis-Lymphedema Syndrome
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Abnormality of the lymphatic system, B... ORPHA:1414
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hepatomegaly, Decreased circulating antibody level, Iron deficiency anemia, Thrombocytosis, Intes... OMIM:226300
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Splenomegaly, Macrocytic anemia, Failure to thrive, Neonatal hypoglycemia OMIM:619046
Osteopetrosis, Autosomal Recessive 4
Hepatomegaly, Reticulocytosis, Splenomegaly, Thrombocytopenia, Anemia OMIM:611490
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Accelerated atherosclerosis, Aortic atherosclerotic lesion, Coronary artery atherosclerosis ORPHA:209902
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Skin rash, Recurrent pneumonia, Decreased mean platelet volume, Bloody diarrhea, Hematochezia, In... OMIM:617718
Congenital Enterovirus Infection
Abnormal macrophage morphology, Leukocytosis, Anemia, Leukopenia, Neutropenia, Thrombocytopenia ORPHA:292
Cholesteryl Ester Storage Disease
Hepatomegaly, Adrenal calcification, Bone-marrow foam cells, Portal hypertension, Hypersplenism, ... OMIM:278000
Aredyld Syndrome
Hepatomegaly, Cachexia, Splenomegaly, Abnormality of the ureter, Type II diabetes mellitus, Type ... ORPHA:1133
Developmental Delay, Hypotonia, And Impaired Language
Neutropenia OMIM:620012
Hermansky-Pudlak Syndrome 2
Hepatomegaly, Absent platelet dense granules, Chronic oral candidiasis, Decreased CD4:CD8 ratio, ... OMIM:608233
Overhydrated Hereditary Stomatocytosis
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Stomatocytosis, Increase... OMIM:185000
Bullous Diffuse Cutaneous Mastocytosis
Cutaneous mastocytosis ORPHA:280785
Beta-Thalassemia
Hepatomegaly, Hypogonadotropic hypogonadism, Abnormal hemoglobin, Microcytic anemia, Splenomegaly... ORPHA:848
Rh Deficiency Syndrome
Hemolytic anemia, Macrocytic anemia, Reticulocytosis, Anisocytosis, Positive direct antiglobulin ... ORPHA:71275
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Hepatomegaly, Reticulocytosis, Splenomegaly, Jaundice, Increased mean corpuscular hemoglobin conc... OMIM:194380
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Leukopenia, Thrombocytopenia, Neutropenia OMIM:251000
Barth Syndrome
Cyclic neutropenia, Granulocytopenia, Hypochromic microcytic anemia, Neutropenia OMIM:302060
Scrub Typhus
Anterior uveitis, Renal insufficiency, Skin rash, Splenomegaly, Myocarditis, Lymphadenopathy, Hyp... ORPHA:83317
Hereditary Amyloidosis With Primary Renal Involvement
Hepatomegaly, Renal insufficiency, Primary testicular failure, Proteinuria, Renal interstitial am... ORPHA:85450
American Trypanosomiasis
Hepatomegaly, Skin rash, Splenomegaly, Myocarditis, Autoimmune antibody positivity, Lymphadenopat... ORPHA:3386
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Psoriasiform dermatitis, Acne, Osteomyelitis, Poor appetite, Skin rash, Arthritis, Inflammation o... ORPHA:324964
Al Amyloidosis
Hepatomegaly, Renal insufficiency, Proteinuria, Howell-Jolly bodies, Abnormality of the kidney, R... ORPHA:85443
Glycogen Storage Disease Ib
Hepatomegaly, Proteinuria, Hypoglycemia, Pancreatic fibrosis, Hepatocellular carcinoma, Splenomeg... OMIM:232220
Alstrom Syndrome
Hypertension, Dilated cardiomyopathy, Congestive heart failure, Atherosclerosis OMIM:203800
Dyskeratosis Congenita, Autosomal Dominant 2
Pancytopenia, Aplastic anemia, Leukopenia, Bone marrow hypocellularity, Neutropenia, Thrombocytop... OMIM:613989
Alkaptonuria
Coronary artery calcification, Myocardial infarction, Hypertension, Thickened Achilles tendon, Te... ORPHA:56
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Decreased circulating IgG level, Hemolytic anemia, Reticulocytosis, Hepatomegaly, Anisocytosis, C... OMIM:618278
Autoimmune Hemolytic Anemia, Warm Type
Abnormal urinary color, Autoimmune hemolytic anemia, Autoimmunity, Splenomegaly, Jaundice, System... ORPHA:90033
Atherosclerosis, Premature, With Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, And Degenerative Neurologic Disease
Coronary artery atherosclerosis, Renal artery stenosis, Cerebral artery atherosclerosis OMIM:209010
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Hepatomegaly, Impaired T cell function, Splenomegaly, Hypogonadism, Decreased serum testosterone ... OMIM:201100
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Hepatomegaly, Eczema, Splenomegaly, Leukocytosis, Lymphadenitis, Cholestasis, Lymphadenopathy, In... OMIM:615895
Acute Promyelocytic Leukemia
Pancytopenia, Leukocytosis, Anemia, Leukopenia, Neutropenia, Thrombocytopenia ORPHA:520
Sitosterolemia 1
Reticulocytosis, Splenomegaly, Thrombocytopenia, Giant platelets, Stomatocytosis, Episodic hemoly... OMIM:210250
Adult-Onset Nemaline Myopathy
High palate, Paraproteinemia, Neuromuscular dysphagia, Feeding difficulties ORPHA:171442
Urban-Rogers-Meyer Syndrome
Hypoplasia of penis, Cryptorchidism, Increased circulating IgE level, Abnormality of the ureter, ... ORPHA:3409
Sapho Syndrome
Psoriasiform dermatitis, Acne, Osteomyelitis, Skin rash, Abdominal pain, Pustule, Recurrent skin ... ORPHA:793
Zygomycosis
Fasciitis, Sinusitis, Acute infectious pneumonia, Unusual gastrointestinal infection, Colitis, Vo... ORPHA:73263
Castleman Disease
Renal insufficiency, Increased circulating interleukin 6 concentration, Generalized lymphadenopat... ORPHA:160
Nestor-Guillermo Progeria Syndrome
Prominent superficial veins, Flexion contracture, Right bundle branch block, Hypertension, Mitral... OMIM:614008
Syndromic Diarrhea
Hepatomegaly, Small for gestational age, Gastritis, Increased mean platelet volume, Splenomegaly,... ORPHA:84064
Granulomatous Disease, Chronic, X-Linked
Hepatomegaly, Recurrent bacterial skin infections, Liver abscess, Osteomyelitis, Discoid lupus ra... OMIM:306400
Mitochondrial Complex I Deficiency, Nuclear Type 33
Neutropenia OMIM:618253
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked
Increased circulating interleukin 8 concentration, Chronic diarrhea, Recurrent pneumonia, Bronchi... OMIM:301220
Focal Facial Dermal Dysplasia Type Iv
Abnormal mast cell morphology ORPHA:398189
Bile Acid Synthesis Defect, Congenital, 5
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron deficiency anemia, Portal fibrosi... OMIM:616278
Portal Hypertension, Noncirrhotic, 1
Splenomegaly, Portal hypertension, Hepatomegaly OMIM:617068
Hemophagocytic Syndrome Associated With An Infection
Hepatomegaly, Pancytopenia, Splenomegaly, Abnormal T cell subset distribution, Abnormal cytokine ... ORPHA:158048
Methylcobalamin Deficiency Type Cble
Macrocytic anemia, Increased mean corpuscular volume, Pancytopenia, Neutropenia ORPHA:2169
Whipple Disease
Hepatomegaly, Myositis, Pericarditis, Cachexia, Splenomegaly, Insulin resistance, Mediastinal lym... ORPHA:3452
Hereditary Elliptocytosis
Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Jaundice, Stoma... ORPHA:288
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Hemolytic anemia, Increased mean platelet volume, Splenomegaly, Thrombocytopenia, Impaired ADP-in... OMIM:153670
Osteopetrosis, Autosomal Dominant 3
Splenomegaly, Hyperparathyroidism, Anemia, Hepatomegaly OMIM:618107
Bone Marrow Failure Syndrome 5
Pure red cell aplasia, Erythroid hypoplasia, Decreased circulating antibody level, Hypogonadism, ... OMIM:618165
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Hepatomegaly, Diabetes mellitus, Portal hypertension, Pancreatic cysts, Splenomegaly, Anti-thyroi... OMIM:610199
Gaucher Disease Type 3
Hepatomegaly, Pancytopenia, Proteinuria, Splenomegaly, Hematuria, Anemia, Increased circulating a... ORPHA:77261
Sepsis In Premature Infants
Hepatomegaly, Increased circulating interleukin 6 concentration, Small for gestational age, Throm... ORPHA:90051
Beta-Thalassemia Major
Extramedullary hematopoiesis, Hepatic fibrosis, Hypothyroidism, Hypoparathyroidism, Hepatomegaly,... ORPHA:231214
Hemochromatosis, Type 1
Hepatomegaly, Diabetes mellitus, Hypogonadotropic hypogonadism, Cardiomegaly, Splenomegaly, Gluco... OMIM:235200
Hb Bart'S Hydrops Fetalis
Hepatomegaly, Pericarditis, Abnormal hemoglobin, Splenomegaly, Anemia ORPHA:163596
Acute Generalized Exanthematous Pustulosis
Leukocytosis, Neutrophilia, Eosinophilia, Neutropenia ORPHA:293173
Autosomal Dominant Hyper-Ige Syndrome
Osteomyelitis, Skin rash, Eczema, Eosinophilia, Increased circulating IgE level, Chronic otitis m... ORPHA:2314
Gray Platelet Syndrome
Impaired thrombin-induced platelet aggregation, Abnormal number of alpha granules, Splenomegaly, ... OMIM:139090
Cohen Syndrome
Leukopenia, Neutropenia OMIM:216550
Calcific Aortic Disease With Immunologic Abnormalities, Familial
Increased circulating antibody level OMIM:114065
Glycogen Storage Disease Ixa1
Splenomegaly, Hypoglycemia, Hepatomegaly OMIM:306000
Netherton Syndrome
Skin rash, Eczema, Ectopic kidney, Increased circulating IgE level, Decreased circulating antibod... ORPHA:634
Methylmalonic Aciduria, Cblb Type
Thrombocytopenia, Pancytopenia, Anemia, Neutropenia OMIM:251110
Congenital Disorder Of Glycosylation, Type Iib
Hepatomegaly, Decreased circulating IgA level, Decreased circulating antibody level OMIM:606056
Sickle Cell Disease
Hemolytic anemia, Renal insufficiency, Hepatomegaly, Cardiomegaly, Splenomegaly, Leukocytosis, Sp... OMIM:603903
Renal-Hepatic-Pancreatic Dysplasia 1
Asplenia, Hepatic fibrosis, Hepatomegaly, Portal hypertension, Malformation of the hepatic ductal... OMIM:208540
Niemann-Pick Disease, Type C1
Foam cells, CNS foam cells, Bone-marrow foam cells OMIM:257220
3-Methylglutaconic Aciduria Type 7
Bone marrow hypocellularity, Infection associated neutropenia, Neutropenia ORPHA:445038
Fumarase Deficiency
Intrahepatic cholestasis, Ascites, Polycythemia OMIM:606812
Shwachman-Diamond Syndrome
Normocytic anemia, Acute myeloid leukemia, Macrocytic anemia, Transient neutropenia, Aplastic ane... ORPHA:811
Goodpasture Syndrome
Anti-glomerular basement membrane-antibody positivity, Renal insufficiency, Proteinuria, Glomerul... OMIM:233450
Myotonic Dystrophy 2
Decreased circulating total IgM, Hypogonadism, Elevated circulating follicle stimulating hormone ... OMIM:602668
Chronic Granulomatous Disease
Hepatomegaly, Liver abscess, Sinusitis, Eczema, Abnormality of neutrophils, Splenomegaly, Mediast... ORPHA:379
Cholestasis, Progressive Familial Intrahepatic, 2
Hepatomegaly, Splenomegaly, Intrahepatic cholestasis, Intermittent jaundice, Cirrhosis, Hepatocel... OMIM:601847
Infection-Related Hemolytic Uremic Syndrome
Increased circulating interleukin 6 concentration, Intestinal perforation, Secretory diarrhea, Bl... ORPHA:544482
Portal Hypertension, Noncirrhotic, 2
Hepatomegaly, Portal hypertension, Nodular regenerative hyperplasia of liver, Splenomegaly, Hepat... OMIM:619463
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Splenomegaly, Interstitial pneumonitis, Anemia, Hepatomegaly OMIM:620296
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Eosinophilia, Decreased circulating antibody level, Erythroderma, Lymphopenia, Hepatic cysts OMIM:617425
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Thrombocytopenia, Reticulocytopenia, Leukopenia, B lymphocytopenia, Bone marrow hypocellularity, ... ORPHA:508542
Liver Failure, Infantile, Transient
3-hydroxydicarboxylic aciduria, Hepatomegaly, Dicarboxylic aciduria, Microvesicular hepatic steat... OMIM:613070
Glycogen Storage Disease Ixc
Hepatomegaly, Hypoglycemia, Splenomegaly, Bile duct proliferation, Fasting hypoglycemia, Cirrhosi... OMIM:613027
Symptomatic Form Of Hfe-Related Hemochromatosis
Hepatomegaly, Cholangiocarcinoma, Diabetes mellitus, Hypogonadotropic hypogonadism, Decreased ser... ORPHA:465508
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Decreased circulating IgG level, Hepatomegaly, Decreased proportion of CD8-positive T cells, Incr... ORPHA:508533
Sarcoidosis, Susceptibility To, 2
Hepatomegaly, Erythema nodosum, Splenomegaly, Mediastinal lymphadenopathy, Bronchiectasis, Uveitis OMIM:612387
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hepatomegaly, Splenomegaly, Jaundice, Lymphadenopathy, Anemia, Leukopenia, Hemophagocytosis, Fail... OMIM:267700
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Hepatomegaly, Neutrophilia, Failure to thrive in infancy, Abscess, Osteomyelitis, Skin rash, Pust... OMIM:612852
Lipodystrophy, Familial Partial, Type 2
Prominent superficial veins, Skeletal muscle hypertrophy, Hypertension, Increased intramuscular f... OMIM:151660
Trichohepatoenteric Syndrome 1
Hepatomegaly, Small for gestational age, Hypospadias, Increased mean platelet volume, Splenomegal... OMIM:222470
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To
Hemolytic anemia, Reticulocytosis, Stomatocytosis, Reduced erythrocyte adenosine triphosphate con... OMIM:301083
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Hepatomegaly, Severe B lymphocytopenia, Superficial dermal perivascular inflammatory infiltrate, ... ORPHA:83617
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hepatomegaly, Hypoglycemia, Abnormal erythrocyte enzyme level, Splenomegaly, Increased body weigh... ORPHA:264580
Transaldolase Deficiency
Hepatomegaly, Pancytopenia, Small for gestational age, Splenomegaly, Micronodular cirrhosis, Hepa... OMIM:606003
Primary Hyperoxaluria Type 1
Calcinosis, Stroke, Atherosclerosis ORPHA:93598
Von Hippel-Lindau Syndrome
Neoplasm of the pancreas, Hepatic hemangioma, Polycythemia, Pancreatic cysts OMIM:193300
Caroli Disease
Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Splenomegaly, ... ORPHA:53035
Vici Syndrome
Decreased circulating IgG level, Lymphopenia, Left ventricular hypertrophy, Decreased circulating... OMIM:242840
Immunodeficiency 55
Absent natural killer cells, Lymphopenia, Neutropenia OMIM:617827
Sclerosing Cholangitis, Neonatal
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Biliary cirrhosis, Cholestasis, Sclero... OMIM:617394
Gapo Syndrome
Abnormal cerebral vascular morphology, Atherosclerosis ORPHA:2067
Necrotizing Enterocolitis
Leukocytosis, Thrombocytopenia, Neutropenia ORPHA:391673
Kikuchi-Fujimoto Disease
Hepatomegaly, Generalized lymphadenopathy, Skin rash, Antinuclear antibody positivity, Thrombocyt... ORPHA:50918
Drug-Induced Autoimmune Hemolytic Anemia
Splenomegaly, Abnormal urinary color, Autoimmune hemolytic anemia ORPHA:90037
Bile Acid Synthesis Defect, Congenital, 1
Giant cell hepatitis, Hepatomegaly, Splenomegaly, Intrahepatic cholestasis, Jaundice, Acholic sto... OMIM:607765
Hereditary Spherocytosis
Reticulocytosis, Hepatomegaly, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Maculo... ORPHA:822
Short Fifth Metacarpals-Insulin Resistance Syndrome
Splenomegaly, Spherocytosis, Hyperinsulinemia ORPHA:66518
Idiopathic Hypereosinophilic Syndrome
Cholangitis, Feeding difficulties in infancy, Colitis, Vomiting, Neutrophilia, Abdominal pain, Le... ORPHA:3260
Elliptocytosis 1
Splenomegaly, Jaundice, Hemolytic anemia, Elliptocytosis OMIM:611804
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatomegaly, Renal insufficiency, Hepatic cysts, Portal hypertension, Absence of renal corticome... OMIM:263200
Cowden Syndrome 1
Hyperthyroidism, Thyroiditis, Decreased circulating antibody level, Hydrocele testis, Ovarian cys... OMIM:158350
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Cerebral hemorrhage, Dilated cardiomyopathy, Stroke-like episode, Right aortic arch, Hypertension... OMIM:300845
Icf Syndrome
Anemia, Lymphopenia, Abnormality of neutrophils, Decreased circulating antibody level ORPHA:2268
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Hemolytic anemia, Decreased mean corpuscular volume, Reticulocytosis, Hepatosplenomegaly OMIM:611590
Marburg Hemorrhagic Fever
Lymphopenia, Renal insufficiency, Reticulocytosis, Hypoglycemia, Maculopapular exanthema, Pericar... ORPHA:99826
Cholestasis, Progressive Familial Intrahepatic, 1
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Splenomegaly, Jaundice, Cirrhosis,... OMIM:211600
Hermansky-Pudlak Syndrome 1
Hematochezia, Inflammation of the large intestine, Colitis, Abdominal pain OMIM:203300
Nail-Patella Syndrome
Renal insufficiency, Proteinuria, Glomerulonephritis, Hematuria, Nephrotic syndrome OMIM:161200
Gaisböck Syndrome
Diabetes mellitus, Overweight, Splenomegaly, Increased mean corpuscular hemoglobin concentration,... ORPHA:90041
Fanconi Anemia, Complementation Group I
Bone marrow hypocellularity, Neutropenia OMIM:609053
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome
Splenomegaly, Pancytopenia, Anhidrosis OMIM:614979
Bone Marrow Failure Syndrome 3
Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Thrombocytopenia, Persistence of hemoglobi... OMIM:617052
Cholestasis, Progressive Familial Intrahepatic, 9
Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Splenomegaly, Intrah... OMIM:619849
Wiskott-Aldrich Syndrome
Sinusitis, Abnormal eosinophil morphology, Microcytic anemia, Inflammation of the large intestine... ORPHA:906
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hepatomegaly, Hypoglycemia, Portal hypertension, Splenomegaly, Micronodular cirrhosis, Jaundice, ... OMIM:251880
Fanconi Anemia, Complementation Group E
Pancytopenia, Reticulocytopenia, Anemia, Neutropenia, Leukemia, Thrombocytopenia OMIM:600901
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Pancytopenia, Megaloblastic anemia, Anemia, Neutropenia, Thrombocytopenia OMIM:277380
Hennekam Syndrome
Ectopic kidney, Splenomegaly, Pulmonary lymphangiectasia, Horseshoe kidney, Decreased circulating... ORPHA:2136
Budd-Chiari Syndrome
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Peritonitis, Weight loss, Cholecystiti... ORPHA:131
Bile Acid Synthesis Defect, Congenital, 3
Hepatomegaly, Hepatic bridging fibrosis, Splenomegaly, Intrahepatic cholestasis, Jaundice, Hepati... OMIM:613812
Mannosidosis, Alpha B, Lysosomal
Hepatomegaly, Splenomegaly, Vacuolated lymphocytes, Decreased circulating antibody level OMIM:248500
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Lymphopenia, Hepatomegaly, Recurrent urinary tract infections, Intermittent thrombocytopenia, Per... OMIM:612541
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis ORPHA:59303
Tyrosinemia, Type I
Hepatomegaly, Renal insufficiency, Hypoglycemia, Splenomegaly, Nephrocalcinosis, Anemia, Ascites,... OMIM:276700
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hepatomegaly, Ketotic hypoglycemia, Hepatocellular carcinoma, Splenomegaly, Increased body weight... ORPHA:79240
Parenteral Nutrition-Associated Cholestasis
Hepatomegaly, Small for gestational age, Portal hypertension, Biliary hyperplasia, Splenomegaly, ... ORPHA:567983
Adams-Oliver Syndrome 6
Splenomegaly, Hepatic fibrosis, Renal hypoplasia, Portal hypertension OMIM:616589
Cartilage-Hair Hypoplasia
Impaired lymphocyte transformation with phytohemagglutinin, Macrocytic anemia, Congenital hypopla... OMIM:250250
Ogden Syndrome
Cardiomegaly, Thrombocytopenia, Jaundice, Microvesicular hepatic steatosis, Patent ductus arterio... OMIM:300855
Hyperparathyroidism, Neonatal Severe
Hepatomegaly, Hyperphosphaturia, Polyuria, Splenomegaly, Primary hyperparathyroidism, Hypercalciu... OMIM:239200
Meige Disease
Recurrent skin infections, Lymph node hypoplasia, Recurrent bacterial skin infections, Absence of... ORPHA:90186
Shwachman-Diamond Syndrome 1
Acute myeloid leukemia, Pancytopenia, Persistence of hemoglobin F, Anemia, Neutropenia, Thrombocy... OMIM:260400
Bile Acid Synthesis Defect, Congenital, 2
Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, Failure to thrive OMIM:235555
Tangier Disease
Accelerated atherosclerosis, Carotid artery stenosis, Facial diplegia, Left ventricular hypertrop... ORPHA:31150
Autoimmune Hypoparathyroidism
Abnormal left ventricular function, Prolonged QT interval, Coronary artery atherosclerosis, Ventr... ORPHA:36913
Diamond-Blackfan Anemia 7
Macrocytic anemia, Increased mean corpuscular volume, Neutropenia OMIM:612562
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Accessory spleen, Hepatomegaly, Failure to thrive in infancy, Hypoglycemia, Neonatal hypoglycemia... OMIM:619418
Methylmalonic Aciduria, Cbla Type
Thrombocytopenia, Pancytopenia, Anemia, Neutropenia OMIM:251100
Niemann-Pick Disease, Type C2
Foam cells, CNS foam cells, Bone-marrow foam cells OMIM:607625
Fanconi Anemia, Complementation Group A
Pancytopenia, Reticulocytopenia, Anemia, Neutropenia, Leukemia, Thrombocytopenia OMIM:227650
Xeroderma Pigmentosum-Cockayne Syndrome Complex
Arteriosclerosis ORPHA:220295
Cholestasis, Progressive Familial Intrahepatic, 3
Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, Portal inflammation, Portal fibro... OMIM:602347
Hypotrichosis Simplex Of The Scalp
Atopic dermatitis, Increased circulating IgE level, Allergic rhinitis ORPHA:90368
Histiocytosis-Lymphadenopathy Plus Syndrome
Episcleritis, Hepatomegaly, Hypergonadotropic hypogonadism, Decreased response to growth hormone ... OMIM:602782
Isolated Biliary Atresia
Hepatomegaly, Small for gestational age, Dark yellow urine, Atretic gallbladder, Splenomegaly, Ja... ORPHA:30391
Osteopetrosis, Autosomal Recessive 1
Hepatomegaly, Pancytopenia, Osteomyelitis, Splenomegaly, Anemia, Failure to thrive, Thrombocytopenia OMIM:259700
Familial Mediterranean Fever
Hepatomegaly, Pericarditis, Neutrophilia, Orchitis, Splenomegaly, Leukocytosis, Peritonitis, Stag... OMIM:249100
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form
Urethral stricture, Renal insufficiency, Recurrent skin infections, Glomerulonephritis, Chronic k... ORPHA:79408
Pearson Syndrome
Decreased response to growth hormone stimulation test, Renal cyst, Abnormality of the liver, Neut... ORPHA:699
Neuronal Intestinal Pseudoobstruction
Decreased circulating antibody level ORPHA:99811
Kasabach-Merritt Syndrome
Reticulocytosis, Thrombocytopenia, Leukopenia, Microangiopathic hemolytic anemia, Neutropenia, An... ORPHA:2330
3-Methylglutaconic Aciduria, Type Viib
Leukopenia, Thrombocytopenia, Neutropenia OMIM:616271
Kaposiform Lymphangiomatosis
Pancreatic cysts, Thrombocytopenia, Splenomegaly, Abnormality of the lymphatic system, Hepatosple... ORPHA:464329
Wolcott-Rallison Syndrome
Iron deficiency anemia, Lymphocytosis, Neutropenia ORPHA:1667
Poikiloderma With Neutropenia
Splenomegaly, Leukopenia, Neutropenia OMIM:604173
Lmna-Related Cardiocutaneous Progeria Syndrome
Congestive heart failure, Intracranial hemorrhage, Hypertension, Mitral regurgitation, Aortic ath... ORPHA:363618
Mgat2-Cdg
Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating IgG level, Abno... ORPHA:79329
Pancreatic Triacylglycerol Lipase Deficiency
Abdominal pain, Abdominal distention, Diarrhea, Iron deficiency anemia, Keratoconjunctivitis sicc... ORPHA:309031
Spondyloepimetaphyseal Dysplasia, Krakow Type
Decreased serum insulin-like growth factor 1, Allergic rhinitis, Eczema, Decreased circulating to... OMIM:618162
Fanconi Anemia, Complementation Group C
Pancytopenia, Reticulocytopenia, Anemia, Bone marrow hypocellularity, Neutropenia, Leukemia, Thro... OMIM:227645
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy
Neutropenia, Microcytic anemia OMIM:251900
Dubowitz Syndrome
Aplastic anemia, Hypospadias, Eczema, Cryptorchidism, Acute lymphoblastic leukemia, Otitis media,... OMIM:223370
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Hypoparathyroidism, Precocious puberty, Hypercalciuria, Renal cyst, Obesity, Nephrocalcinosis, De... ORPHA:369837
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Psoriasiform dermatitis, Recurrent skin infections, Eosinophilic infiltration of the esophagus, I... OMIM:615508
Mucopolysaccharidosis Type 6
Sinusitis, Splenomegaly, Mucopolysacchariduria, Chronic otitis media, Failure to thrive ORPHA:583
Alström Syndrome
Urinary incontinence, Decreased response to growth hormone stimulation test, Functional abnormali... ORPHA:64
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Fasciitis, Myositis, Pericarditis, Skin rash, Orchitis, Splenomegaly, Leukocytosis, Peritonitis, ... ORPHA:32960
Hermansky-Pudlak Syndrome 10
Splenomegaly, Neutropenia OMIM:617050
Cocaine Intoxication
Proteinuria, Glomerulonephritis, Hyperhidrosis, Hematuria, Tubulointerstitial nephritis, Colitis,... ORPHA:90068
Werner Syndrome
Premature arteriosclerosis OMIM:277700
Beckwith-Wiedemann Syndrome
Hepatomegaly, Cardiomegaly, Splenomegaly, Abnormal pancreas morphology, Hepatoblastoma, Polycythe... ORPHA:116
Monosomy 18Q
Bilateral cryptorchidism, Hypothyroidism, Micropenis, Failure to thrive, Slender build, Secondary... ORPHA:1600
Hypercholesterolemia, Familial, 2
Coronary artery atherosclerosis OMIM:144010
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Episodic vomiting, Necrotizing enterocolitis, Gastroesophageal reflux OMIM:201475
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Agammaglobulinemia, Abnormality of the pancreas, Lymphopenia, Anemia ORPHA:935
Methylmalonic Acidemia With Homocystinuria Type Cblf
Neutropenia, Megaloblastic anemia ORPHA:79284
Say-Barber-Miller Syndrome
Eczema, Erythema nodosum, Cryptorchidism, Transient hypogammaglobulinemia of infancy, Decreased c... ORPHA:3132
Familial Mediterranean Fever
Pericarditis, Proteinuria, Skin rash, Orchitis, Splenomegaly, Peritonitis, Osteoarthritis, Lympha... ORPHA:342
Nijmegen Breakage Syndrome
Autoimmune hemolytic anemia, Sinusitis, Recurrent urinary tract infections, Dysgammaglobulinemia,... OMIM:251260
Atypical Werner Syndrome
Skeletal muscle atrophy, Prominent superficial veins, Telangiectasia of the skin, Abnormal cerebr... ORPHA:79474
Hyperlipoproteinemia, Type Id
Colitis, Recurrent pancreatitis, Pancreatitis OMIM:615947
Lysinuric Protein Intolerance
Hepatomegaly, Thrombocytopenia, Oroticaciduria, Splenomegaly, Stage 5 chronic kidney disease, Tru... OMIM:222700
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Reticulocytosis, Decreased circulating complement factor B concentration, Thrombocytopenia, Schis... OMIM:235400
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Bronchiectasis, Inflammation of the large intestine, Rectovaginal fistula, Dysphagia, Lymphopenia... OMIM:619708
Lysosomal Acid Lipase Deficiency
Precocious atherosclerosis, Bone-marrow foam cells, Hypovolemia, Stroke, Hypotension, Pulmonary a... ORPHA:275761
Kindler Epidermolysis Bullosa
Recurrent skin infections, Esophageal stricture, Cheilitis, Inflammation of the large intestine, ... ORPHA:2908
Immunodeficiency 87 And Autoimmunity
Decreased proportion of CD4-positive T cells, Hemolytic anemia, Atrophic gastritis, Necrotizing e... OMIM:619573
Triosephosphate Isomerase Deficiency
Normocytic anemia, Hemolytic anemia, Macrocytic anemia, Splenomegaly, Jaundice, Normochromic anem... OMIM:615512
Gaucher Disease
Hepatomegaly, Pancytopenia, Osteomyelitis, Proteinuria, Splenomegaly, Osteoarthritis, Hepatitis, ... ORPHA:355
Shwachman-Diamond Syndrome 2
Normocytic anemia, Thrombocytopenia, Neutropenia OMIM:617941
Vici Syndrome
Renal tubular acidosis, Decreased circulating IgG level, Ureteral atresia, Decreased circulating ... ORPHA:1493
Saul-Wilson Syndrome
Neutropenia OMIM:618150
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)
Neutropenia OMIM:615471
Phosphoglycerate Kinase 1 Deficiency
Erythroid hyperplasia, Hemolytic anemia, Reticulocytosis OMIM:300653
Hutchinson-Gilford Progeria Syndrome
Aortic regurgitation, Mitral stenosis, Angina pectoris, Myocardial infarction, Transient ischemic... ORPHA:740
Scheie Syndrome
Splenomegaly, Rhinitis, Mucopolysacchariduria, Hepatomegaly ORPHA:93474
Pearson Marrow-Pancreas Syndrome
Sideroblastic anemia, Pancytopenia, Thrombocytopenia, Reticulocytopenia, Neutropenia, Hypoplastic... OMIM:557000
Reynolds Syndrome
Hepatomegaly, Antinuclear antibody positivity, Splenomegaly, Jaundice, Erythema nodosum, Anti-cen... OMIM:613471
Glycogen Storage Disease Xii
Normocytic anemia, Hepatomegaly, Splenomegaly, Jaundice, Hemoglobinuria, Normochromic anemia, Cho... OMIM:611881
Encephalitis Lethargica
Increased circulating antibody level, Autoimmunity ORPHA:83600
Ectodermal Dysplasia And Immunodeficiency 2
Hepatomegaly, Anhidrosis, Splenomegaly, Defective production of NFKB1-dependent cytokines, Hypohi... OMIM:612132
Reactive Arthritis
Pericarditis, Osteomyelitis, Abdominal pain, Pustule, Diarrhea, Enthesitis, Arthritis, Inflammati... ORPHA:29207
3P25.3 Microdeletion Syndrome
Skeletal muscle atrophy, Patent ductus arteriosus, Knee flexion contracture, Pulmonic stenosis, C... ORPHA:435638
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hepatomegaly, Increased urinary glycerol, Ketonuria, Failure to thrive in infancy, Jaundice, Chol... ORPHA:247598
Cerebral Arteriopathy, Autosomal Recessive, With Subcortical Infarcts And Leukoencephalopathy
Transient ischemic attack, Carotid artery stenosis, Lacunar stroke, Arteriosclerosis of small cer... OMIM:600142
Diffuse Cutaneous Mastocytosis
Gastrointestinal hemorrhage, Abdominal pain, Abnormality of the spleen, Diarrhea, Malnutrition, V... ORPHA:79456
Von Hippel-Lindau Disease
Neoplasm of the pancreas, Polycythemia, Pancreatic islet cell adenoma, Pancreatic cysts ORPHA:892
Spondyloenchondrodysplasia With Immune Dysregulation
T lymphocytopenia, Lymphopenia, Autoimmune thrombocytopenia, Neutropenia OMIM:607944
Simpson-Golabi-Behmel Syndrome
Ureteral duplication, Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Hydroureter... ORPHA:373
Autosomal Recessive Polycystic Kidney Disease
Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Hepatic fibrosis, H... ORPHA:731
Gaucher Disease, Type I
Hepatomegaly, Pancytopenia, Hypersplenism, Splenomegaly, Anemia, Thrombocytopenia OMIM:230800
Diamond-Blackfan Anemia
Acute myeloid leukemia, Pure red cell aplasia, Erythroid hypoplasia, Reticulocytopenia, Persisten... ORPHA:124
Farber Disease
Skeletal muscle atrophy, Cherry red spot of the macula, Flexion contracture, CNS foam cells ORPHA:333
Fusariosis
Brain abscess, Lung abscess, Abnormality of the spleen, Granuloma, Neutropenia, Lymphopenia ORPHA:228119
Behçet Disease
Increased inflammatory response, Renal insufficiency, Myositis, Acne, Pericarditis, Glomerulopath... ORPHA:117
Car T Cell Therapy-Associated Cytokine Release Syndrome
Increased inflammatory response, Increased circulating interleukin 6 concentration, Skin rash, In... ORPHA:542323
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Chronic neutropenia, Diarrhea, Hepatocellular adenoma, Enterocolitis, Gout, Ulcerative colitis, T... ORPHA:79259
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Hypoparathyroidism, Aplasia of the thymus, Decreased response to growth hormone stimulation test,... OMIM:618223
Dyskeratosis Congenita
Neoplasm of the pancreas, Hepatomegaly, Diabetes mellitus, Abnormality of neutrophils, Thrombocyt... ORPHA:1775
Congenital Disorder Of Glycosylation With Defective Fucosylation 1
Neutropenia OMIM:618005
Acute Monoblastic/Monocytic Leukemia
Acute monocytic leukemia, Anorexia, Leukocytosis, Lymphocytosis, Hypochromic anemia, Anemia ORPHA:514
Cockayne Syndrome
Skeletal muscle atrophy, Retinal hemorrhage, Contractures of the large joints, Congenital contrac... ORPHA:191
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis, Sclerosing cholangitis, H... OMIM:607626
Familial Thrombocytosis
Acute myeloid leukemia, Splenomegaly, Chronic myelogenous leukemia, Weight loss, Hyperhidrosis, T... ORPHA:71493
Familial Pseudohyperkalemia
Reticulocytosis, Episodic hemolytic anemia, Stomatocytosis, Increased mean corpuscular volume ORPHA:90044
Fanconi Anemia, Complementation Group D2
Pancytopenia, Reticulocytopenia, Anemia, Bone marrow hypocellularity, Neutropenia, Leukemia, Thro... OMIM:227646
Biotinidase Deficiency
Hepatomegaly, Skin rash, Recurrent skin infections, Seborrheic dermatitis, Splenomegaly, Organic ... OMIM:253260
Okur-Chung Neurodevelopmental Syndrome
Decreased circulating IgG level, Failure to thrive, Decreased circulating IgA level, Decreased ci... OMIM:617062
Familial Tumoral Calcinosis
Hepatomegaly, Skin rash, Splenomegaly, Hyperhidrosis, Nephrocalcinosis ORPHA:53715
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Neutropenia, Thrombocytopenia, Megaloblastic anemia OMIM:277400
Leigh Syndrome
Anemia, Neutropenia ORPHA:506
Gaucher Disease, Type Ii
Hepatomegaly, Splenomegaly, Anemia, Failure to thrive, Recurrent aspiration pneumonia, Thrombocyt... OMIM:230900
Renal Cysts And Diabetes Syndrome
Renal cyst, Glucose intolerance, Pancreatic hypoplasia, Hypospadias, Abnormality of the kidney, R... OMIM:137920
Thrombocytopenia-Absent Radius Syndrome
Ureteral duplication, Renal malrotation, Eosinophilia, Seborrheic dermatitis, Pancreatic cysts, T... OMIM:274000
Wilson Disease
Osteoarthritis, Aminoaciduria, Hepatic steatosis, Hypoparathyroidism, Hemolytic anemia, Hepatomeg... OMIM:277900
Elliptocytosis 2
Hemolytic anemia, Elliptocytosis, Reticulocytosis OMIM:130600
Congenital Factor Xiii Deficiency
Inflammation of the large intestine, Hepatic failure, Myeloid leukemia ORPHA:331
Autoimmune Pulmonary Alveolar Proteinosis
Foam cells ORPHA:747
Wolfram Syndrome 2
Impaired collagen-induced platelet aggregation, Neurogenic bladder, Diabetes mellitus, Decreased ... OMIM:604928
Gastrocutaneous Syndrome
Coronary artery atherosclerosis ORPHA:2069
Cystinosis, Nephropathic
Aminoaciduria, Renal Fanconi syndrome, Low-molecular-weight proteinuria, Male hypogonadism, Hepat... OMIM:219800
Myelofibrosis
Splenomegaly, Myeloproliferative disorder OMIM:254450
Hardikar Syndrome
Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Vesicoureteral reflux, Bladder exstr... OMIM:301068
Cohen Syndrome
Neutropenia ORPHA:193
Relapsing Fever
Neutrophilia, Leukocytosis, Anemia, Leukopenia, Thrombocytopenia ORPHA:91547
Trichothiodystrophy
Panhypogammaglobulinemia, Increased mean corpuscular hemoglobin concentration, Anemia, Neutropenia ORPHA:33364
Blau Syndrome
Clear cell renal cell carcinoma, Pericarditis, Skin rash, Keratitis, Splenomegaly, Retrobulbar op... ORPHA:90340
Apolipoprotein C-Ii Deficiency
Splenomegaly, Pancreatitis, Hepatomegaly OMIM:207750
Digeorge Syndrome
Impaired T cell function, Parathyroid hypoplasia, Abnormal thymus morphology, Hypoplasia of the t... OMIM:188400
Scleromyxedema
Abnormality of thyroid physiology, Paraproteinemia, Abnormality of the kidney ORPHA:167635
Plague
Glossitis, Chapped lip, Skin rash, Anorexia, Abdominal pain, Erythema nodosum, Lymphadenitis, Hem... ORPHA:707
Polycythemia Vera
Hepatomegaly, Portal hypertension, Portal vein thrombosis, Splenomegaly, Acute leukemia, Weight loss ORPHA:729
Khan-Khan-Katsanis Syndrome
Lymphopenia, Anemia, Neutropenia OMIM:618460
Lipodystrophy, Congenital Generalized, Type 1
Hepatomegaly, Acute pancreatitis, Diabetes mellitus, Decreased serum leptin, Splenomegaly, Hyperi... OMIM:608594
Congenital Analbuminemia
Small for gestational age, Obesity, Increased circulating antibody level ORPHA:86816
Trichothiodystrophy 1, Photosensitive
Small for gestational age, Keratoconjunctivitis sicca, Hypogonadism, Erythroderma, Decreased circ... OMIM:601675
Lipodystrophy, Congenital Generalized, Type 2
Hepatomegaly, Acute pancreatitis, Elevated hemoglobin A1c, Decreased serum leptin, Splenomegaly, ... OMIM:269700
Toxic Epidermal Necrolysis
Thrombocytopenia, Anemia, Neutropenia ORPHA:537
Psoriasis 14, Pustular
Leukocytosis, Neutrophilia OMIM:614204
Rothmund-Thomson Syndrome
Leukemia, Aplastic anemia, Anemia, Neutropenia ORPHA:2909
Cerebrotendinous Xanthomatosis
Precocious atherosclerosis, Tendon xanthomatosis, Distal amyotrophy, Abnormality of the Achilles ... ORPHA:909
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Decreased hemoglobin concentration, Hemolytic anemia, Reticulocytosis ORPHA:713
Hyperlipoproteinemia, Type I
Splenomegaly, Jaundice, Pancreatitis, Hepatosplenomegaly OMIM:238600
Diamond-Blackfan Anemia 1
Macrocytic anemia, Congenital hypoplastic anemia, Reticulocytopenia, Persistence of hemoglobin F,... OMIM:105650
Cartilage-Hair Hypoplasia
Decreased circulating antibody level, Anemia, Neutropenia ORPHA:175
Viss Syndrome
Chronic gastritis, Eczema, Increased circulating IgE level, Hypereosinophilia, Atopic dermatitis,... OMIM:619472
Familial Chylomicronemia Syndrome
Precocious atherosclerosis, Pulmonary embolism ORPHA:444490
Liver Disease, Severe Congenital
Chronic gastritis, Cardiomegaly, Biliary hyperplasia, Leukopenia, Aminoaciduria, Lymphocytosis, E... OMIM:619991
Rothmund-Thomson Syndrome Type 1
Leukemia, Aplastic anemia, Anemia, Neutropenia ORPHA:221008
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Neutropenia, Thrombocytopenia, Megaloblastic anemia ORPHA:79282
Intellectual Developmental Disorder, Autosomal Dominant 54
Neutropenia OMIM:617799
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Decreased circulating IgG level, Neutropenia OMIM:271510
Rothmund-Thomson Syndrome Type 2
Leukemia, Aplastic anemia, Anemia, Neutropenia ORPHA:221016
Glycogen Storage Disease Ic
Stomatitis, Cyclic neutropenia, Chronic pancreatitis, Gout, Inflammation of the large intestine, ... OMIM:232240
Telangiectasia, Hereditary Hemorrhagic, Type 2
Brain abscess, Cirrhosis, Hepatic arteriovenous malformation, Polycythemia, Anemia OMIM:600376
Hermansky-Pudlak Syndrome
Neutropenia ORPHA:79430
X-Linked Intellectual Disability, Nascimento Type
Recurrent cutaneous abscess formation, Neutropenia ORPHA:163956
Diarrhea 10, Protein-Losing Enteropathy Type
Polyuria, Cryptorchidism, Elevated circulating thyroid-stimulating hormone concentration, Decreas... OMIM:618183
Porphyria, Congenital Erythropoietic
Hemolytic anemia, Hepatomegaly, Splenomegaly, Jaundice, Red urine, Conjunctivitis, Cholelithiasis... OMIM:263700
Thrombotic Thrombocytopenic Purpura, Hereditary
Reticulocytosis, Jaundice, Schistocytosis, Microangiopathic hemolytic anemia, Prolonged neonatal ... OMIM:274150
Telangiectasia, Hereditary Hemorrhagic, Type 1
Brain abscess, Cirrhosis, Hepatic arteriovenous malformation, Polycythemia, Anemia OMIM:187300
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency
Hypersplenism, Pancytopenia, Neutropenia in presence of anti-neutropil antibodies, Hepatosplenome... ORPHA:228426
Hennekam-Beemer Syndrome
Mastocytosis ORPHA:2135
Cysticercosis
Iridocyclitis, Increased circulating antibody level, Infectious encephalitis ORPHA:1560
Frontometaphyseal Dysplasia 2
Feeding difficulties in infancy, Pyloric stenosis, Cleft palate, Ulcerative colitis, Gastroesopha... OMIM:617137
Trichinellosis
Skin rash, Increased circulating IgE level, Conjunctivitis ORPHA:863
Niemann-Pick Disease Type C
Foam cells, Aplasia/Hypoplasia of the abdominal wall musculature, Bone-marrow foam cells ORPHA:646
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Transient neutropenia, Chronic neutropenia ORPHA:500095
Estrogen Resistance Syndrome
Coronary artery atherosclerosis ORPHA:785
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2
Increased circulating antibody level OMIM:606002
Cockayne Syndrome Type 3
Skeletal muscle atrophy, Flexion contracture, Subdural hemorrhage, Retinal hemorrhage, Cardiomyop... ORPHA:90324
Chronic Visceral Acid Sphingomyelinase Deficiency
Hepatomegaly, Decreased serum insulin-like growth factor 1, Autoimmune thrombocytopenia, Hyperspl... ORPHA:77293
3-Methylglutaconic Aciduria, Type Viii
Neutropenia OMIM:617248
Lathosterolosis
Foam cells with lamellar inclusion bodies OMIM:607330
Thauvin-Robinet-Faivre Syndrome
Transient neutropenia OMIM:617107
Tropical Endomyocardial Fibrosis
Hepatomegaly, Increased circulating interleukin 6 concentration, Eosinophilia, Cachexia, Cardiome... ORPHA:75565
Chronic Thromboembolic Pulmonary Hypertension
Inflammation of the large intestine, Osteomyelitis, Myeloproliferative disorder ORPHA:70591
Turner Syndrome Due To Structural X Chromosome Anomalies
Celiac disease, High, narrow palate, Thyroiditis, Gastrointestinal angiodysplasia, Gastrointestin... ORPHA:99413
Mosaic Monosomy X
Celiac disease, High, narrow palate, Thyroiditis, Gastrointestinal angiodysplasia, Gastrointestin... ORPHA:99228
Monosomy X
Celiac disease, High, narrow palate, Thyroiditis, Gastrointestinal angiodysplasia, Gastrointestin... ORPHA:99226
Turner Syndrome
Celiac disease, High, narrow palate, Thyroiditis, Gastrointestinal angiodysplasia, Gastrointestin... ORPHA:881
Sponastrime Dysplasia
Decreased circulating antibody level, Neutropenia ORPHA:93357
Aspartylglucosaminuria
Vacuolated lymphocytes, Neutropenia OMIM:208400
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Anemia, Neutropenia ORPHA:95455
Mowat-Wilson Syndrome
Aganglionic megacolon, Bowel incontinence, Cleft hard palate, Pyloric stenosis, Gastrointestinal ... ORPHA:2152
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Absent gallbladder, Failure to thrive in infancy, Unilateral renal agenesis, Bilateral renal dysp... ORPHA:500150
Pmm2-Cdg
Impaired neutrophil chemotaxis ORPHA:79318

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Prkcd

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Prkcd.

No publications found that use IMPC mice or data for Prkcd.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Prkcdtm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Prkcdtm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Prkcdtm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells

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