Gene Summary

Name:
myeloid cell leukemia sequence 1
Synonyms:
Mcl-1

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal lymph node morphology Mcl1em1(IMPC)Mbp HET Early adult 0.00
microphthalmia Mcl1em1(IMPC)Mbp HET Early adult 0.00
anophthalmia Mcl1em1(IMPC)Mbp HET Early adult 0.00
abnormal heart morphology Mcl1em1(IMPC)Mbp HET Early adult 0.00
embryonic lethality prior to organogenesis Mcl1em1(IMPC)Mbp HOM   E9.5 0.00
abnormal eye morphology Mcl1em1(IMPC)Mbp HET Early adult 0.00
enlarged lymph nodes Mcl1em1(IMPC)Mbp HET Early adult 0.00
small heart Mcl1em1(IMPC)Mbp HET Early adult 0.00
preweaning lethality, complete penetrance Mcl1em1(IMPC)Mbp HOM   Early adult 0.00
increased mean corpuscular volume Mcl1em1(IMPC)Mbp HET Early adult 3.79×10-10
small spleen Mcl1em1(IMPC)Mbp HET Early adult 0.00
increased grip strength Mcl1em1(IMPC)Mbp HET Early adult 3.56×10-05

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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Dorso Ventral

36 Images

X-ray

XRay Images Whole Body Lateral Orientation

12 Images

Human diseases caused by Mcl1 mutations

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

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

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Mcl1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Immunodeficiency 18
Defective T cell proliferation, Decreased proportion of CD3-positive T cells, Lymphopenia OMIM:615615
Wiskott-Aldrich Syndrome 2
Reduced natural killer cell activity, Decreased proportion of CD8-positive T cells, Thrombocytope... OMIM:614493
Combined Cellular And Humoral Immune Defects With Granulomas
Decreased circulating IgG level, B lymphocytopenia, T lymphocytopenia OMIM:233650
Combined Immunodeficiency, X-Linked
Decreased proportion of CD8-positive T cells, Decreased proportion of CD4-positive helper T cells... OMIM:312863
Immunodeficiency 24
Defective T cell proliferation, Decreased circulating IgG level, Lymphopenia, Decreased specific ... OMIM:615897
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
Decreased circulating IgG level, T lymphocytopenia OMIM:242870
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Splenomegaly, Decreased helper T cell proportion, Pancytopenia, Cutaneous anergy, Hypersplenism OMIM:183350
Immunodeficiency 15A
Decreased proportion of CD8-positive T cells, Cutaneous abscess, Decreased proportion of CD4-posi... OMIM:618204
Immunodeficiency 40
Lymphopenia OMIM:616433
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
T lymphocytopenia ORPHA:169095
Hemoglobin D Disease
Decreased mean corpuscular volume, Abnormal hemoglobin, HbS hemoglobin, Splenomegaly, Reduced alp... ORPHA:90039
Reticular Dysgenesis
Lack of T cell function, Lymphopenia, Hypoplasia of the thymus, Impaired T cell function, Leukope... OMIM:267500
Lymphoid System Deterioration, Progressive
Decreased circulating total IgM, Abnormal T cell morphology, Decreased circulating IgG level, Lym... OMIM:247630
Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive
Hypochromia, Decreased mean corpuscular volume, Hepatosplenomegaly, Sideroblastic anemia, Pyridox... OMIM:206000
Immunodeficiency 48
Absence of CD8-positive T cells, Splenomegaly, Panhypogammaglobulinemia OMIM:269840
Hepatic Venoocclusive Disease With Immunodeficiency
Abnormality of the liver, Endocardial fibrosis, Absence of lymph node germinal center OMIM:235550
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... OMIM:611926
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Hypoplasia of the thymus, Decreased proportion of CD8-positive T cells, Decreased proportion of C... OMIM:617241
Cd8 Deficiency, Familial
Absence of CD8-positive T cells OMIM:608957
Immunodeficiency 105
Decreased circulating IgA level, Lymphopenia, Decreased circulating IgG level, Decreased circulat... OMIM:619924
Dehydrated Hereditary Stomatocytosis 2
Increased mean corpuscular volume, Hepatomegaly, Splenomegaly, Anisopoikilocytosis, Acanthocytosi... OMIM:616689
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
T lymphocytopenia DECIPHER:16
Gombo Syndrome
Microphthalmia, Abnormal heart morphology OMIM:233270
Immunodeficiency 14A, Autosomal Dominant
Splenomegaly, Decreased specific pneumococcal antibody level, T lymphocytopenia, Decreased propor... OMIM:615513
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Decreased lymphocyte proliferation in response to mitogen, Increased circulating antibody level, ... ORPHA:169154
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
Decreased helper T cell proportion, T lymphocytopenia OMIM:601705
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Anophthalmia, Microphthalmia ORPHA:85275
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Increased mean corpuscular volume, Neutropenia, Pancytopenia, Bone marrow hypocellularity, Anemia... OMIM:619041
Anemia, Hypochromic Microcytic, With Iron Overload 1
Hypochromia, Decreased mean corpuscular volume, Anemia, Abnormality of the liver OMIM:206100
Cernunnos-Xlf Deficiency
Lymphopenia, B lymphocytopenia, T lymphocytopenia, Decreased circulating antibody level, Anemia, ... ORPHA:169079
Reticuloendotheliosis, X-Linked
Anemia, Hepatosplenomegaly, Lymphadenopathy, Jaundice OMIM:312500
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
Abnormally low T cell receptor excision circle level, T lymphocytopenia OMIM:618806
Sickle Cell Anemia
Increased mean corpuscular volume, Leukocytosis, Hypochromic anemia, Persistence of hemoglobin F,... ORPHA:232
Hemoglobin E Disease
Hypochromia, Anemia of inadequate production, Abnormal hemoglobin, Decreased mean corpuscular vol... ORPHA:2133
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)
Abnormality of the lymph nodes OMIM:136580
Immunodeficiency 32A
Lymphadenopathy OMIM:614893
Immunodeficiency 50
Neutropenia, Decreased circulating antibody level, Lymphopenia OMIM:300988
Microphthalmia, Isolated 1
Anophthalmia, Microphthalmia OMIM:251600
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency
Lymphadenopathy ORPHA:319600
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hypochromia, Decreased mean corpuscular volume, Hepatomegaly, Splenomegaly, Poikilocytosis, Anemia OMIM:615234
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Hypochromia, Decreased mean corpuscular volume, Anemia, Sideroblastic anemia OMIM:205950
Monocyte Chemotactic Disorder
Cutaneous anergy OMIM:252250
Pulmonary Nodular Lymphoid Hyperplasia
Follicular hyperplasia, Mediastinal lymphadenopathy, Plasmacytosis ORPHA:60026
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Agammaglobulinemia, Hypoplasia of the thymus, Lymphopenia OMIM:200900
Microphthalmia, Syndromic 12
Ventricular septal defect, Anophthalmia, Hypoplastic left atrium, Microphthalmia OMIM:615524
Immunodeficiency 103, Susceptibility To Fungal Infections
Abnormal proportion of CD8-positive T cells, Abnormal B cell count, Hypereosinophilia, Abnormal n... OMIM:212050
Immunodeficiency 97 With Autoinflammation
Decreased circulating IgA level, Neutropenia in presence of anti-neutropil antibodies, Decreased ... OMIM:619802
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Abnormally low T cell receptor excision circle level, Decreased circulating total IgM, Decreased ... OMIM:618987
Dehydrated Hereditary Stomatocytosis
Cholelithiasis, Anemia of inadequate production, Increased mean corpuscular volume, Nonspherocyti... ORPHA:3202
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Autoimmune hemolytic anemia, Increased circulating antibody level, Lymphopenia, Plasmacytosis OMIM:247800
Dextrocardia With Unusual Facies And Microphthalmia
Dextrocardia, Anophthalmia, Microphthalmia OMIM:221950
Retinal Telangiectasia And Hypogammaglobulinemia
Reduced delayed hypersensitivity, Decreased circulating IgG level OMIM:267900
Agammaglobulinemia 8A, Autosomal Dominant
Agammaglobulinemia, B lymphocytopenia OMIM:616941
Caspase 8 Deficiency
Decreased circulating IgA level, Decreased circulating IgG level, Splenomegaly, Decreased circula... OMIM:607271
Microphthalmia, Isolated, With Coloboma 5
Anophthalmia, Bilateral microphthalmos, Microphthalmia OMIM:611638
Microphthalmia, Isolated, With Coloboma 10
Anophthalmia, Microphthalmia OMIM:616428
Squamous Cell Carcinoma Of The Esophagus
Lymphadenopathy ORPHA:99977
Immunodeficiency 38 With Basal Ganglia Calcification
Lymphadenopathy OMIM:616126
Diamond-Blackfan Anemia 6
Increased mean corpuscular volume, Atrial septal defect, Persistence of hemoglobin F, Tetralogy o... OMIM:612561
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Nanophthalmos 2
Microphthalmia OMIM:609549
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Increased mean corpuscular volume, Thrombocytopenia, Acute myeloid leukemia OMIM:252270
Immunodeficiency 81
Impaired collagen-induced platelet aggregation, Abnormally low T cell receptor excision circle le... OMIM:619374
Severe Combined Immunodeficiency, X-Linked
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... OMIM:300400
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Lymphopenia, Absent specific antibody response, Autoimmune thrombocytopenia, Decreased proportion... OMIM:619846
Intrinsic Factor Deficiency
Increased mean corpuscular volume, Megaloblastic anemia, Megaloblastic erythroid hyperplasia OMIM:261000
Overhydrated Hereditary Stomatocytosis
Splenomegaly, Anisocytosis, Abnormal mean corpuscular volume, Hemolytic anemia, Decreased mean co... ORPHA:3203
Mantle Cell Lymphoma
Lymphadenopathy, Splenomegaly ORPHA:52416
Macrosomia With Microphthalmia, Lethal
Microphthalmia OMIM:248110
Bone Marrow Failure Syndrome 6
Increased mean corpuscular volume, Lymphopenia, Persistence of hemoglobin F, Neutropenia, Bone ma... OMIM:618849
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hypochromia, Decreased mean corpuscular volume, Hepatomegaly, Splenomegaly, Cirrhosis, Hepatosple... OMIM:616860
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased specific anti-polysaccharide antibody level, Splenomegaly, Autoimmune thrombocytopenia,... OMIM:300853
Diamond-Blackfan Anemia 3
Increased mean corpuscular volume, Persistence of hemoglobin F, Macrocytic anemia, Reticulocytope... OMIM:610629
Immunodeficiency 25
Increased circulating IgA level, Eosinophilia, Complete or near-complete absence of specific anti... OMIM:610163
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Lymphopenia, Splenomegaly, Autoimmune thrombocytopenia, Hemolytic anemia, Hepatitis, Autoimmune h... ORPHA:444463
Congenital Toxoplasmosis
Hepatomegaly, Thrombocytopenia, Microphthalmia, Anemia, Lymphadenopathy, Jaundice, Cardiomegaly ORPHA:858
Nanophthalmos 4
Microphthalmia OMIM:615972
Immunodeficiency With Hyper-Igm, Type 3
Decreased circulating IgA level, Decreased circulating IgG level, Impaired memory B cell generati... OMIM:606843
Microphthalmia, Isolated, With Cataract 1
Microphthalmia OMIM:156850
Immunodeficiency 76
Lymphopenia, T lymphocytopenia, B lymphocytopenia, Splenomegaly OMIM:619164
Agammaglobulinemia 10, Autosomal Dominant
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... OMIM:619707
Diamond-Blackfan Anemia 8
Increased mean corpuscular volume, Neutropenia, Macrocytic anemia OMIM:612563
Bone Marrow Failure And Diabetes Mellitus Syndrome
Increased mean corpuscular volume, T-cell acute lymphoblastic leukemias, Pancytopenia OMIM:620044
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Decreased specific pneumococcal antibody level, Impaired lymphocyte transformation with phytohema... OMIM:617006
B-Cell Expansion With Nfkb And T-Cell Anergy
Decreased circulating IgA level, Splenomegaly, Decreased specific antibody response to polysaccha... OMIM:616452
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Lack of T cell function, Lymphopenia, B lymphocytopenia, T lymphocytopenia, Increased circulating... ORPHA:277
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia OMIM:616335
Immunodeficiency 13
Lymphopenia, B lymphocytopenia, T lymphocytopenia, Decreased proportion of CD4-positive helper T ... OMIM:615518
Immunodeficiency 70
Decreased circulating total IgA, Decreased circulating total IgM, B lymphocytopenia, Decreased ci... OMIM:618969
Immunodeficiency 75
Decreased proportion of class-switched memory B cells, Hepatosplenomegaly, Follicular hyperplasia... OMIM:619126
Immunodeficiency 57 With Autoinflammation
B lymphocytopenia, T lymphocytopenia, Decreased circulating antibody level, Perianal abscess, Par... OMIM:618108
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, B lymphocytopenia, Neutropenia OMIM:613107
Immunodeficiency, Common Variable, 1
Decreased circulating IgA level, Neutropenia in presence of anti-neutropil antibodies, Decreased ... OMIM:607594
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
T lymphocytopenia, B lymphocytopenia, Panhypogammaglobulinemia OMIM:601457
Immunodeficiency 17
T lymphocytopenia, Decreased proportion of CD8-positive T cells, Abnormal B cell morphology, Chro... OMIM:615607
Immunodeficiency 102
Decreased circulating IgA level, Partial absence of specific antibody response to Haemophilus inf... OMIM:301082
Agammaglobulinemia 8B, Autosomal Recessive
Decreased circulating IgA level, Decreased circulating IgG level, Decreased proportion of CD8-pos... OMIM:619824
Autoimmune Lymphoproliferative Syndrome
Neutropenia in presence of anti-neutropil antibodies, Increased circulating IgA level, Coombs-pos... OMIM:601859
Transcobalamin Deficiency
Decreased circulating IgA level, Decreased circulating IgG level, Lymphopenia, Decreased circulat... ORPHA:859
Immunodeficiency 85 And Autoimmunity
Decreased circulating IgA level, Decreased circulating IgG level, Lymphopenia, Decreased circulat... OMIM:619510
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Microphthalmia OMIM:615771
Immunodeficiency 64
Decreased lymphocyte proliferation in response to mitogen, Increased circulating IgA level, Decre... OMIM:618534
Epidermodysplasia Verruciformis, Susceptibility To, 5
Lymphopenia, T lymphocytopenia OMIM:618309
Immunodeficiency 52
Increased proportion of gamma-delta T cells, Coombs-positive hemolytic anemia, Lymphopenia, Splen... OMIM:617514
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Neutropenia in presence of anti-neutropil antibodies, Splenomegaly, B lymphocytopenia, T lymphocy... ORPHA:231154
Kerion Celsi
Lymphadenopathy ORPHA:499
Autoinflammation With Episodic Fever And Lymphadenopathy
Hepatomegaly, Recurrent tonsillitis, Splenomegaly, Microcytic anemia, Lymphadenopathy OMIM:618852
Immunodeficiency, Common Variable, 13
Acute lymphoblastic leukemia, Decreased circulating antibody level, B lymphocytopenia, Pancytopenia OMIM:616873
Immunodeficiency 72 With Autoinflammation
Hepatosplenomegaly, Increased circulating IgG level, Increased B cell count, Increased circulatin... OMIM:618982
Microphthalmia, Isolated, With Coloboma 6
Bilateral microphthalmos, Hypoplasia of the fovea, Optic disc hypoplasia OMIM:613703
Griscelli Syndrome, Type 2
Hepatosplenomegaly, Reduced delayed hypersensitivity, Hemophagocytosis OMIM:607624
Fryns Microphthalmia Syndrome
Anophthalmia, Microphthalmia OMIM:600776
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Abnormality of T cell physiology OMIM:308220
Microphthalmia, Isolated, With Coloboma 7
Microphthalmia OMIM:614497
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Decreased lymphocyte proliferation in response to anti-CD3, Lymphopenia, Panhypogammaglobulinemia... OMIM:600802
Fanconi Anemia, Complementation Group G
Neutropenia, Microphthalmia, Anemia, Thrombocytopenia, Leukemia OMIM:614082
Immunodeficiency 104
T lymphocytopenia, Splenomegaly OMIM:608971
Majeed Syndrome
Anemia of inadequate production, Decreased mean corpuscular volume, Hepatosplenomegaly, Microcyti... OMIM:609628
Immunodeficiency 37
Decreased proportion of central memory CD4-positive, alpha-beta T cells, Decreased circulating an... OMIM:616098
Microphthalmia, Isolated, With Coloboma 4
Microphthalmia OMIM:251505
Microphthalmia, Isolated 3
Anophthalmia, Microphthalmia OMIM:611038
Congenital Dyserythropoietic Anemia Type Iii
Increased mean corpuscular volume, Anisocytosis, Poikilocytosis, Anemia, Abnormal erythrocyte mor... ORPHA:98870
Neutropenia, Severe Congenital, X-Linked
Decreased CD4:CD8 ratio, Monocytopenia, Neutropenia OMIM:300299
Mmep Syndrome
Ventricular septal defect, Microphthalmia ORPHA:3434
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Hepatomegaly, Microphthalmia ORPHA:2432
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Microphthalmia OMIM:251700
Combined Immunodeficiency Due To Zap70 Deficiency
Decreased lymphocyte proliferation in response to mitogen, Lymphocytosis, Eosinophilia, Hepatospl... ORPHA:911
Familial Pseudohyperkalemia
Increased mean corpuscular volume, Reticulocytosis, Episodic hemolytic anemia, Stomatocytosis ORPHA:90044
Meckel Syndrome, Type 8
Anophthalmia, Microphthalmia OMIM:613885
Congenital Rubella Syndrome
Hepatomegaly, Atrial septal defect, Splenomegaly, Ventricular septal defect, Aplasia/Hypoplasia o... ORPHA:290
Adams-Oliver Syndrome 4
Ventricular septal defect, Atrial septal defect, Microphthalmia OMIM:615297
Premature Ovarian Failure 12
Microphthalmia OMIM:616947
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hepatomegaly, Hemophagocytosis, Splenomegaly, Thrombocytopenia, Neutropenia, Anemia, Lymphadenopa... OMIM:603552
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Decreased lymphocyte proliferation in response to anti-CD3, Partial absence of specific antibody ... OMIM:618986
Oslam Syndrome
Increased mean corpuscular volume, Abnormality of neutrophils ORPHA:2760
Microphthalmia, Syndromic 9
Atrial septal defect, Multilobulated spleen, Pulmonic stenosis, Single ventricle, Anophthalmia, H... OMIM:601186
Adenocarcinoma Of The Esophagus
Lymphadenopathy ORPHA:99976
Candidiasis, Familial, 1
Cutaneous anergy OMIM:114580
Matthew-Wood Syndrome
Annular pancreas, Aplasia/Hypoplasia of the pancreas, Abnormal spleen morphology, Anophthalmia, M... ORPHA:2470
Oculocerebrocutaneous Syndrome
Anophthalmia, Microphthalmia OMIM:164180
Immunodeficiency 7
Lymphadenopathy, Hypereosinophilia OMIM:615387
Immunodeficiency, Common Variable, 14
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... OMIM:617765
Mast Cell Sarcoma
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Mastocytosis, Lymphadenopathy ORPHA:66661
Mu-Heavy Chain Disease
Hepatomegaly, Splenomegaly, Abnormal B cell count, Anemia, Lymphadenopathy ORPHA:100024
Diamond-Blackfan Anemia 7
Increased mean corpuscular volume, Secundum atrial septal defect, Tetralogy of Fallot, Macrocytic... OMIM:612562
Microphthalmia, Isolated 8
Optic nerve hypoplasia, Anophthalmia, True anophthalmia, Microphthalmia OMIM:615113
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Neutropenia in presence of anti-neutropil antibodies, Fluctuating splenomegaly, Autoimmune thromb... OMIM:619220
Cerebrooculofacioskeletal Syndrome 3
Microphthalmia OMIM:616570
Anencephaly 2
Anophthalmia OMIM:619452
T-Cell Immunodeficiency With Thymic Aplasia
Lymphopenia, Aplasia of the thymus, Abnormally low T cell receptor excision circle level, Hepatos... OMIM:242700
Nanophthalmos
Microphthalmia ORPHA:35612
Immunodeficiency 68
Abscess, Abnormal natural killer cell count, B lymphocytopenia, T lymphocytopenia OMIM:612260
16Q24.3 Microdeletion Syndrome
Increased mean corpuscular volume, Optic nerve hypoplasia, Ventricular septal defect, Dilated car... ORPHA:261250
Methylcobalamin Deficiency Type Cble
Increased mean corpuscular volume, Neutropenia, Macrocytic anemia, Pancytopenia, Abnormality of t... ORPHA:2169
Shwachman-Diamond Syndrome
Increased mean corpuscular volume, Abnormal heart morphology, Exocrine pancreatic insufficiency, ... ORPHA:811
Wiskott-Aldrich Syndrome
Decreased specific anti-polysaccharide antibody level, Increased circulating IgA level, Lymphopen... OMIM:301000
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Right atrial enlargement, Restrictive cardiomyopathy, Hypoplasia of the thymus, B lymphocytopenia... OMIM:619313
Carcinoma Of Esophagus
Lymphadenopathy ORPHA:70482
Immunodeficiency 96
Increased mean corpuscular volume, Decreased circulating IgA level, Defective T cell proliferatio... OMIM:619774
Cataract 11, Multiple Types
Microphthalmia OMIM:610623
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Decreased lymphocyte proliferation in response to mitogen, Decreased circulating IgA level, Abnor... ORPHA:331206
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hemophagocytosis, Splenomegaly, Hepatosplenomegaly, Anemia, Thrombocytopenia, Lymphadenopathy OMIM:613101
Ras-Associated Autoimmune Leukoproliferative Disorder
Hepatomegaly, Lymphocytosis, Splenomegaly, Follicular hyperplasia, Autoimmune thrombocytopenia, M... OMIM:614470
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Hemolytic anemia, Decreased mean corpuscular volume, Hepatosplenomegaly, Reticulocytosis OMIM:611590
Kimura Disease
Eosinophilia, Follicular hyperplasia, Lymphadenopathy ORPHA:482
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Microphthalmia ORPHA:1574
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:86893
Autoimmune Lymphoproliferative Syndrome, Type Iia
Neutropenia in presence of anti-neutropil antibodies, Increased circulating IgA level, Coombs-pos... OMIM:603909
Triokinase And Fmn Cyclase Deficiency Syndrome
Pancreatitis, Hepatomegaly, Dilated cardiomyopathy, Microcytic anemia, Microphthalmia, Hepatic st... OMIM:618805
Castleman Disease
Decreased mean corpuscular volume, Restrictive cardiomyopathy, Follicular hyperplasia, Mediastina... ORPHA:160
Alpha-Heavy Chain Disease
Anemia, Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:100025
Xk Aprosencephaly Syndrome
Ventricular septal defect, Atrial septal defect, Microphthalmia ORPHA:3469
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Lack of T cell function, Decreased lymphocyte proliferation in response to mitogen, Decreased cir... ORPHA:35078
Leukocyte Adhesion Deficiency, Type Iii
Hepatomegaly, Leukocytosis, Splenomegaly, Extramedullary hematopoiesis, Abnormality of the lymph ... OMIM:612840
Beta-Thalassemia Intermedia
Cholelithiasis, Anemia of inadequate production, Decreased mean corpuscular volume, Abnormality o... ORPHA:231222
Combined Immunodeficiency Due To Dock8 Deficiency
Increased circulating IgE level, B lymphocytopenia, T lymphocytopenia ORPHA:217390
Dominant Beta-Thalassemia
Decreased mean corpuscular volume, Splenomegaly, Extramedullary hematopoiesis, Anisocytosis, Cirr... ORPHA:231226
Rosaï-Dorfman Disease
Anemia, Lymphadenopathy ORPHA:158014
Lymphoproliferative Syndrome 3
Hepatosplenomegaly, Lymphadenopathy, Reduced natural killer cell count OMIM:618261
Microphthalmia, Isolated 4
Microphthalmia OMIM:613094
Trisomy 13
Atrial septal defect, Anophthalmia, Ventricular septal defect, Microphthalmia, Aplasia/Hypoplasia... ORPHA:3378
Progressive Multifocal Leukoencephalopathy
Decreased proportion of CD8-positive T cells, Abnormal proportion of CD4-positive T cells ORPHA:217260
Follicular Lymphoma
Abnormality of the peritoneum, Mediastinal lymphadenopathy, Lymphadenopathy, Splenomegaly ORPHA:545
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Anophthalmia ORPHA:411986
Blackfan-Diamond Anemia
Increased mean corpuscular volume, Abnormal heart morphology, Neutropenia, Atrial septal defect, ... ORPHA:124
Immunodeficiency 27A
Histiocytosis, Enlarged mesenteric lymph node, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Th... OMIM:209950
Beta-Thalassemia Major
Anemia of inadequate production, Decreased mean corpuscular volume, Hepatomegaly, Splenomegaly, E... ORPHA:231214
Foveal Hypoplasia 2
Hypoplasia of the fovea, Microphthalmia OMIM:609218
Immunodeficiency 36
Decreased circulating IgA level, Decreased circulating IgG level, Lymphopenia, Splenomegaly, B ly... OMIM:616005
Autoimmune Lymphoproliferative Syndrome, Type Iii
Hepatomegaly, Splenomegaly, Increased proportion autoreactive unresponsive CD21-/low B cells, Hep... OMIM:615559
Fanconi Anemia, Complementation Group J
Bone marrow hypocellularity, Microphthalmia OMIM:609054
Immunodeficiency By Defective Expression Of Mhc Class Ii
Lack of T cell function, Decreased lymphocyte proliferation in response to mitogen, Neutropenia, ... ORPHA:572
Microphthalmia, Isolated, With Coloboma 3
Microphthalmia OMIM:610092
Manitoba Oculotrichoanal Syndrome
Anophthalmia, Microphthalmia OMIM:248450
Elliptocytosis 3
Decreased mean corpuscular volume, Elliptocytosis, Chronic hemolytic anemia, Pyropoikilocytosis, ... OMIM:617948
Burkitt Lymphoma
Abnormality of the lymph nodes, Abnormality of the spleen, Abnormality of the pancreas, Decreased... ORPHA:543
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Decreased mean corpuscular volume, Hepatosplenomegaly, Anisopoikilocytosis, Dysplastic erythropoe... ORPHA:300298
Immunodeficiency 10
Autoimmune hemolytic anemia, Thrombocytopenia, Hypoplasia of the iris, Lymphadenopathy OMIM:612783
Hodgkin Lymphoma
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:98293
Lymphoproliferative Syndrome 1
Hepatomegaly, Splenomegaly, Leukopenia, Autoimmune thrombocytopenia, Thrombocytopenia, Decreased ... OMIM:613011
Immunodeficiency 22
Decreased proportion of CD4-positive helper T cells OMIM:615758
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Decreased lymphocyte proliferation in response to mitogen, Decreased circulating IgA level, Decre... ORPHA:276
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Increased mean corpuscular volume, Megaloblastic anemia OMIM:277410
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Hepatomegaly, Coombs-positive hemolytic anemia, Splenomegaly, Autoimmune thrombocytopenia, Decrea... OMIM:619375
Refractory Anemia With Excess Blasts
Anemia of inadequate production, Leukocytosis, Abnormal mean corpuscular volume, Bone marrow hypo... ORPHA:86839
Deafness, Autosomal Dominant 34, With Or Without Inflammation
Lymphadenopathy OMIM:617772
Immunodeficiency With Hyper-Igm, Type 4
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Absence of lymph node germinal center OMIM:608184
Schnitzler Syndrome
Hepatomegaly, Leukocytosis, Splenomegaly, Anemia, Lymphadenopathy ORPHA:37748
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Decreased mean corpuscular volume, Hepatocellular necrosis, Hepatomegaly, Microvesicular hepatic ... OMIM:618278
Microcephaly-Microcornea Syndrome, Seemanova Type
Microphthalmia ORPHA:2528
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Ventricular septal defect, Anophthalmia, Microphthalmia ORPHA:77298
Microgastria-Limb Reduction Defects Association
Type I truncus arteriosus, Secundum atrial septal defect, Splenogonadal fusion, Anophthalmia, Bil... OMIM:156810
Selective Igm Deficiency
Neutropenia in presence of anti-neutropil antibodies, Decreased proportion of transitional B cell... ORPHA:331235
Faciothoracogenital Syndrome
Microphthalmia OMIM:227320
Microphthalmia, Isolated 6
Microphthalmia OMIM:613517
Gracile Bone Dysplasia
Aniridia, Hypoplastic spleen, Asplenia, Microphthalmia OMIM:602361
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Microphthalmia OMIM:616171
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Lymphopenia, Hepatomegaly, Splenomegaly, Aplasia of the thymus, Abnormally low T cell receptor ex... OMIM:602450
Indolent Systemic Mastocytosis
Abnormal mast cell morphology, Hepatomegaly, Splenomegaly, Mastocytosis, Increased proportion of ... ORPHA:98848
Xeroderma Pigmentosum, Complementation Group G
Microphthalmia OMIM:278780
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Neutrophilia, Abnormality of the lymph nodes, Abnormality of the lymphatic system, Abnormality of... ORPHA:54251
Lissencephaly Syndrome, Norman-Roberts Type
Patent foramen ovale, Atrial septal defect, Hypoplastic spleen ORPHA:89844
Primary Myelofibrosis
Hepatomegaly, Leukocytosis, Splenomegaly, Extramedullary hematopoiesis, Hepatosplenomegaly, Throm... ORPHA:824
Omenn Syndrome
Hepatomegaly, Splenomegaly, Eosinophilia, Hypoplasia of the thymus, Severe B lymphocytopenia, B l... OMIM:603554
Ehlers-Danlos Syndrome, Beasley-Cohen Type
Bilateral microphthalmos OMIM:608763
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Ventricular septal defect, Leukemia, Microphthalmia OMIM:602501
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Decreased lymphocyte proliferation in response to mitogen, Decreased circulating IgG level, Lymph... ORPHA:508533
Congenital Varicella Syndrome
Microphthalmia ORPHA:291
Immunodeficiency, Common Variable, 2
Decreased circulating IgA level, Decreased circulating IgG level, Splenomegaly, Partial absence o... OMIM:240500
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Microphthalmia OMIM:120433
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Hepatomegaly, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Decreased CD4:CD8 ratio OMIM:618495
Dihydropyrimidine Dehydrogenase Deficiency
Microphthalmia OMIM:274270
Immunodeficiency With Hyper-Igm, Type 2
Lymphadenopathy OMIM:605258
Leishmaniasis
Hepatomegaly, Splenomegaly, Leukopenia, Abnormal macrophage morphology, Thrombocytopenia, Pancyto... ORPHA:507
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Splenomegaly, B lymphocytopenia, Intermittent thrombocytopenia, Neutropenia, Abnormal CD4:CD8 rat... OMIM:150550
Pfapa Syndrome
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:42642
Anophthalmia Plus Syndrome
Anophthalmia ORPHA:1104
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Decreased specific anti-polysaccharide antibody level, Decreased lymphocyte proliferation in resp... OMIM:606367
Cold Agglutinin Disease
Hemolytic anemia, Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:56425
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia
Chronic noninfectious lymphadenopathy, Abnormality of the lymph nodes ORPHA:97290
Neurooculocardiogenitourinary Syndrome
Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Microphthalmia, Cardiomegaly OMIM:618652
Heme Oxygenase 1 Deficiency
Hepatomegaly, Coombs-positive hemolytic anemia, Cervical lymphadenopathy, Hemolytic anemia, Throm... OMIM:614034
Microphthalmia With Limb Anomalies
Anophthalmia, Microphthalmia OMIM:206920
Familial Papillary Or Follicular Thyroid Carcinoma
Chronic noninfectious lymphadenopathy, Abnormality of the lymph nodes ORPHA:319487
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Microphthalmia OMIM:614830
Congenital Fibrinogen Deficiency
Left ventricular hypertrophy, Microphthalmia, Right ventricular hypertrophy, Splenic rupture ORPHA:335
2Q24 Microdeletion Syndrome
Microphthalmia ORPHA:1617
Classic Mycosis Fungoides
Abnormal lymphocyte morphology, Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:2584
Granulomatous Slack Skin
Abnormality of the lymph nodes ORPHA:33111
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive
Eosinophilia, Decreased circulating total IgM, Increased circulating IgG level, Decreased proport... OMIM:243700
Hydrolethalus
Anophthalmia, Microphthalmia ORPHA:2189
Idiopathic Uveal Effusion Syndrome
Microphthalmia ORPHA:209956
Immunodeficiency With Hyper-Igm, Type 1
Decreased circulating IgA level, Decreased circulating IgG level, Increased circulating IgA level... OMIM:308230
Cerebrooculonasal Syndrome
Anophthalmia ORPHA:66625
Solitary Median Maxillary Central Incisor
Anophthalmia, Microphthalmia OMIM:147250
Microphthalmia With Brain And Digit Anomalies
Anophthalmia, Microphthalmia ORPHA:139471
Immunodeficiency With Hyper-Igm, Type 5
Lymphadenopathy OMIM:608106
Trisomy 1Q
Ventricular septal defect, Anophthalmia ORPHA:261344
Systemic-Onset Juvenile Idiopathic Arthritis
Pericarditis, Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:85414
Lymphoproliferative Syndrome 2
Hepatomegaly, Hemophagocytosis, Splenomegaly, Hepatosplenomegaly, Aplastic anemia, Pancytopenia, ... OMIM:615122
Cataract 9, Multiple Types
Microphthalmia OMIM:604219
Lymphoproliferative Syndrome, X-Linked, 1
Neutropenia, Hepatomegaly, Lymphocytosis, Hemophagocytosis, Splenomegaly, Fulminant hepatitis, Ap... OMIM:308240
Tularemia
Abnormal nasopharyngeal adenoid morphology, Leukocytosis, Cervical lymphadenopathy, Mediastinal l... ORPHA:3392
Cinca Syndrome
Leukocytosis, Eosinophilia, Hepatosplenomegaly, Anemia, Lymphadenopathy OMIM:607115
Meckel Syndrome
Pancreatic fibrosis, Accessory spleen, Anophthalmia, Congenital hepatic fibrosis, Situs inversus ... ORPHA:564
Fish-Eye Disease
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:79292
Roifman Syndrome
Hepatomegaly, Splenomegaly, Eosinophilia, Ventricular septal defect, Noncompaction cardiomyopathy... OMIM:616651
X-Linked Lymphoproliferative Disease
Hemophagocytosis, Aplastic anemia, B lymphocytopenia, Increased proportion of CD25+ mast cells, P... ORPHA:2442
Pgm3-Cdg
Cutaneous abscess, Abnormal proportion of CD8-positive T cells, Increased circulating IgA level, ... ORPHA:443811
Aregenerative Anemia
Abnormal proportion of CD8-positive T cells, Neutropenia, Erythroid hypoplasia, Decreased proport... ORPHA:101096
Familial Cold Autoinflammatory Syndrome 2
Lymphadenopathy, Leukocytosis, Splenomegaly OMIM:611762
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Decreased circulating IgA level, Reduced natural killer cell count, Increased circulating IgM lev... OMIM:242860
Laryngeal Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy ORPHA:100083
Cofs Syndrome
Microphthalmia ORPHA:1466
Cockayne Syndrome Type 2
Hepatomegaly, Anophthalmia ORPHA:90322
Congenital Primary Aphakia
Congenital aphakia, Microphthalmia, Aplasia/Hypoplasia affecting the anterior segment of the eye ORPHA:83461
Griscelli Syndrome Type 2
Neutropenia, Hepatomegaly, Hemophagocytosis, Splenomegaly, Pancytopenia, Lymphadenopathy, Jaundice ORPHA:79477
Nephroblastoma
Neoplasm of the liver, Lymphadenopathy, Aniridia ORPHA:654
Rhabdoid Tumor
Anemia, Lymphadenopathy, Neoplasm of the liver, Thrombocytopenia ORPHA:69077
Deafness-Lymphedema-Leukemia Syndrome
Hepatomegaly, Leukocytosis, Splenomegaly, Myeloproliferative disorder, Thrombocytopenia, Abnormal... ORPHA:3226
Gamma-Heavy Chain Disease
Hepatomegaly, Splenomegaly, Autoimmune thrombocytopenia, Abnormal lymphocyte morphology, Autoimmu... ORPHA:100026
Microphthalmia, Syndromic 13
Microphthalmia OMIM:300915
Combined Immunodeficiency Due To Crac Channel Dysfunction
Hepatomegaly, Splenomegaly, Hemolytic anemia, Hypoplasia of the iris, Thrombocytopenia, Lymphaden... ORPHA:169090
Immunodeficiency 98 With Autoinflammation, X-Linked
Hepatomegaly, Hemophagocytosis, Splenomegaly, B lymphocytopenia, Thrombocytopenia, Neutropenia, B... OMIM:301078
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Microphthalmia OMIM:610023
Microphthalmia, Syndromic 5
Optic nerve hypoplasia, Anophthalmia, Microphthalmia OMIM:610125
Oculotrichoanal Syndrome
Anophthalmia, Microphthalmia ORPHA:2717
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Microphthalmia OMIM:212550
Retinitis Pigmentosa And Erythrocytic Microcytosis
Decreased mean corpuscular volume, Anisocytosis, Poikilocytosis, Elliptocytosis, Anemia OMIM:616959
Biemond Syndrome Type 2
Microphthalmia ORPHA:141333
Aggressive Systemic Mastocytosis
Neutropenia, Abnormal mast cell morphology, Leukocytosis, Hepatosplenomegaly, Thrombocytopenia, I... ORPHA:98850
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Microphthalmia OMIM:267760
Braddock-Carey Syndrome 2
Thrombocytopenia, Microphthalmia OMIM:619981
Microgastria-Limb Reduction Defect Syndrome
Hepatomegaly, Atrial septal defect, Abnormality of the spleen, Anophthalmia, Microphthalmia, Trun... ORPHA:2538
Purine Nucleoside Phosphorylase Deficiency
Decreased lymphocyte proliferation in response to mitogen, Neutropenia in presence of anti-neutro... OMIM:613179
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Ventricular septal defect, Microphthalmia ORPHA:93267
Subaortic Stenosis-Short Stature Syndrome
Membranous subvalvular aortic stenosis, Subvalvular aortic stenosis, Microphthalmia, Biliary trac... ORPHA:3191
Immunodeficiency 54
Lymphadenopathy, Hepatomegaly, Reduced natural killer cell count, Splenomegaly OMIM:609981
Felty Syndrome
Hepatomegaly, Splenomegaly, Abnormal lymphocyte morphology, Thrombocytopenia, Pericarditis, Neutr... ORPHA:47612
Wiskott-Aldrich Syndrome, Autosomal Dominant
Decreased specific anti-polysaccharide antibody level, Increased circulating IgA level, Lymphopen... OMIM:600903
Refsum Disease
Microphthalmia, Cardiomyopathy, Splenomegaly ORPHA:773
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Lymphopenia, Recurrent tonsillitis, Splenomegaly, Hepatosplenomegaly, Lymphadenitis, Acute pancre... OMIM:618935
Fanconi Anemia, Complementation Group I
Atrial septal defect, Microphthalmia, Optic nerve hypoplasia, Ventricular septal defect, Patent f... OMIM:609053
17Q12 Microduplication Syndrome
Atrial septal defect, Microphthalmia ORPHA:261272
Walker-Warburg Syndrome
Anophthalmia, Microphthalmia ORPHA:899
Oculogastrointestinal Neurodevelopmental Syndrome
Bicuspid aortic valve, Bilateral microphthalmos, Unilateral microphthalmos OMIM:619318
Fibular Hemimelia
Thrombocytopenia, Anophthalmia, Abnormal heart morphology ORPHA:93323
Eisenmenger Syndrome
Increased mean corpuscular volume, Bacterial endocarditis, Hepatomegaly, Atrial septal defect, At... ORPHA:97214
Pierpont Syndrome
Microphthalmia ORPHA:487825
Desmoplastic Small Round Cell Tumor
Neoplasm of the pancreas, Hepatomegaly, Mediastinal lymphadenopathy, Abnormality of the peritoneu... ORPHA:83469
Roifman Syndrome
Eosinophilia, Lymphadenopathy, Noncompaction cardiomyopathy, Hepatosplenomegaly ORPHA:353298
Microcephaly 20, Primary, Autosomal Recessive
Optic nerve hypoplasia, Microphthalmia OMIM:617914
Classic Hodgkin Lymphoma
Bone marrow hypocellularity, Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:391
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Microphthalmia ORPHA:324416
American Trypanosomiasis
Hepatomegaly, Splenomegaly, Myocarditis, Lymphadenopathy, Cardiomyopathy ORPHA:3386
Holoprosencephaly
Abnormal pulmonary valve morphology, Abnormality of the spleen, Anophthalmia, Tetralogy of Fallot... ORPHA:2162
Niemann-Pick Disease, Type A
Sea-blue histiocytosis, Hepatomegaly, Splenomegaly, Microcytic anemia, Prolonged neonatal jaundic... OMIM:257200
Griscelli Syndrome
Hepatomegaly, Splenomegaly, Leukopenia, Thrombocytopenia, Abnormality of neutrophils, Hepatitis, ... ORPHA:381
Adult-Onset Still Disease
Hepatomegaly, Neutrophilia, Leukocytosis, Splenomegaly, Myocarditis, Generalized lymphadenopathy,... ORPHA:829
Cat-Eye Syndrome
Microphthalmia ORPHA:195
Craniotelencephalic Dysplasia
Optic nerve hypoplasia, Microphthalmia OMIM:218670
Microphthalmia, Isolated 5
Microphthalmia OMIM:611040
Chediak-Higashi Syndrome
Hepatomegaly, Hemophagocytosis, Splenomegaly, Abnormal dense granules, Leukopenia, Macular hypopl... OMIM:214500
Pierpont Syndrome
Microphthalmia OMIM:602342
Warburg Micro Syndrome 1
Microphthalmia OMIM:600118
Pleural Mesothelioma
Lymphadenopathy, Hepatomegaly ORPHA:50251
Pseudomyxoma Peritonei
Lymphadenopathy, Abnormality of the peritoneum ORPHA:26790
Isolated Optic Nerve Hypoplasia/Aplasia
Optic nerve hypoplasia, Aplasia/Hypoplasia of the iris, Optic disc hypoplasia, Unilateral microph... ORPHA:137902
Orotic Aciduria
Hypochromia, Folate-unresponsive megaloblastic anemia, Anisocytosis, Impaired T cell function, Po... OMIM:258900
Cockayne Syndrome Type 1
Anemia, Hepatomegaly, Anophthalmia ORPHA:90321
Macrophage Activation Syndrome
Neutropenia, Hepatomegaly, Hemophagocytosis, Splenomegaly, Thrombocytopenia, Hepatitis, Abnormal ... ORPHA:158061
Obesity Due To Congenital Leptin Deficiency
Decreased T cell activation, Decreased proportion of CD4-positive helper T cells ORPHA:66628
Immunodeficiency 27B
Generalized lymphadenopathy OMIM:615978
Omenn Syndrome
Hepatomegaly, Leukocytosis, Splenomegaly, Eosinophilia, Abnormal lymphocyte morphology, Anemia, L... ORPHA:39041
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Left ventricular hypertrophy, Microphthalmia OMIM:613153
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Microphthalmia OMIM:251270
Craniotelencephalic Dysplasia
Septo-optic dysplasia, Microphthalmia ORPHA:1528
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Hypertrophic cardiomyopathy, Hepatomegaly, Microphthalmia OMIM:619053
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Microphthalmia ORPHA:1473
Atrioventricular Septal Defect With Blepharophimosis And Anal And Radial Defects
Atrial septal defect, Atrioventricular canal defect, Tetralogy of Fallot, Ventricular septal defe... OMIM:600123
Proteasome-Associated Autoinflammatory Syndrome 4
Autoimmune hemolytic anemia, Lymphadenopathy, Hepatomegaly, Splenomegaly OMIM:619183
Microphthalmia, Syndromic 3
Optic nerve hypoplasia, Anophthalmia, Ventricular septal defect, Microphthalmia, Optic nerve aplasia OMIM:206900
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Coombs-positive hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Thrombocytopenia, He... OMIM:304790
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Microphthalmia ORPHA:48431
Frontonasal Dysplasia 1
Tetralogy of Fallot, Microphthalmia OMIM:136760
Spondylo-Ocular Syndrome
Ventricular septal defect, Aplasia/Hypoplasia of the lens, Microphthalmia ORPHA:85194
Immunodeficiency 91 And Hyperinflammation
Hepatomegaly, Neutrophilia, Hemophagocytosis, Hepatosplenomegaly, Monocytosis, Thrombocytopenia, ... OMIM:619644
Legionnaires Disease
Pancreatitis, Lymphopenia, Splenomegaly, Endocarditis, Myocarditis, Hepatitis, Bone marrow hypoce... ORPHA:549
Fanconi Anemia, Complementation Group E
Microphthalmia, Thrombocytopenia, Pancytopenia, Neutropenia, Anemia, Leukemia, Reticulocytopenia,... OMIM:600901
Obesity Due To Leptin Receptor Gene Deficiency
Decreased T cell activation, Decreased proportion of CD4-positive helper T cells ORPHA:179494
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies
Hepatosplenomegaly, Microcytic anemia, Lymphadenopathy OMIM:619750
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Lymphopenia, Hepatomegaly, Splenomegaly, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia... OMIM:616100
Cinca Syndrome
Hepatomegaly, Leukocytosis, Splenomegaly, Abnormal granulocyte morphology, Abnormality of neutrop... ORPHA:1451
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
Tricuspid valve prolapse, Anophthalmia, Aniridia ORPHA:1101
Cyclic Neutropenia
Lymphopenia, Recurrent tonsillitis, Cervical lymphadenopathy, Peritonitis, Thrombocytopenia, Cycl... ORPHA:2686
Agammaglobulinemia, X-Linked
Decreased circulating IgA level, Decreased circulating IgG level, Complete or near-complete absen... OMIM:300755
Microphthalmia, Syndromic 8
Microphthalmia OMIM:601349
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Hepatomegaly, Leukocytosis, Splenomegaly, Lymphadenitis, Cholestasis, Dilated cardiomyopathy, Hep... OMIM:615895
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Thrombocytopenia, Lymphocytosis, Decreased mean platelet volume, Lymphadenopathy OMIM:617718
Proteasome-Associated Autoinflammatory Syndrome 2
B lymphocytopenia, Increased CD4:CD8 ratio, Decreased proportion of memory B cells, Thrombocytope... OMIM:618048
Scrub Typhus
Lymphadenopathy, Myocarditis, Splenomegaly ORPHA:83317
Developmental Delay With Variable Neurologic And Brain Abnormalities
Microphthalmia OMIM:619694
Autoimmune Lymphoproliferative Syndrome
Abnormal proportion of CD8-positive T cells, Bone marrow hypocellularity, Reticulocytosis, Abnorm... ORPHA:3261
Sézary Syndrome
Abnormal lymphocyte morphology, Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:3162
Mycosis Fungoides
Lymphadenopathy OMIM:254400
Temtamy Syndrome
Microphthalmia ORPHA:1777
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Hepatosplenomegaly, T lymphocytopenia, Panhypogammaglobulinemia, Abnormal natural killer cell cou... ORPHA:79124
Adams-Oliver Syndrome 2
Microphthalmia OMIM:614219
Fanconi Anemia, Complementation Group A
Microphthalmia, Thrombocytopenia, Pancytopenia, Neutropenia, Anemia, Leukemia, Reticulocytopenia,... OMIM:227650
Lissencephaly 8
Microphthalmia OMIM:617255
Fanconi Anemia, Complementation Group S
Anemia, Microphthalmia OMIM:617883
Pulmonary Non-Tuberculous Mycobacterial Infection
Lymphadenopathy, Pericardial effusion ORPHA:411703
Q Fever
Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Endocarditis, Myocarditis, Cholecystitis, Thrombo... ORPHA:781
Systemic Mastocytosis With Associated Hematologic Neoplasm
Abnormal mast cell morphology, Hepatomegaly, Neutrophilia, Splenomegaly, Leukocytosis, Myeloproli... ORPHA:98849
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Microphthalmia ORPHA:1135
Acute Monoblastic/Monocytic Leukemia
Lymphocytosis, Leukocytosis, Hypochromic anemia, Acute monocytic leukemia, Cervical lymphadenopat... ORPHA:514
Meckel Syndrome, Type 4
Bile duct proliferation, Ventricular septal defect, Atrial septal defect, Microphthalmia OMIM:611134
Microphthalmia, Syndromic 11
Microphthalmia OMIM:614402
Fanconi Anemia, Complementation Group C
Neutropenia, Microphthalmia, Thrombocytopenia, Ventricular septal defect, Pancytopenia, Bone marr... OMIM:227645
Congenital Disorder Of Glycosylation, Type Iq
Microcytic anemia, Microphthalmia OMIM:612379
Chromosome 17Q12 Duplication Syndrome
Atrial septal defect, Microphthalmia OMIM:614526
Fanconi Anemia, Complementation Group F
Atrial septal defect, Leukopenia, Microphthalmia, Bone marrow hypocellularity, Anemia, Thrombocyt... OMIM:603467
Boutonneuse Fever
Cervical lymphadenopathy, Leukopenia, Lymphadenopathy, Thrombocytopenia ORPHA:83313
Hartsfield Syndrome
Microphthalmia ORPHA:2117
Adams-Oliver Syndrome
Abnormal pulmonary valve morphology, Cirrhosis, Leukopenia, Tetralogy of Fallot, Congenital hepat... ORPHA:974
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Optic nerve hypoplasia, Microphthalmia OMIM:615181
Mixed Connective Tissue Disease
Hepatomegaly, Splenomegaly, Leukopenia, Mediastinal lymphadenopathy, Myocarditis, Hemolytic anemi... ORPHA:809
Bare Lymphocyte Syndrome, Type Ii
Agammaglobulinemia, Cutaneous anergy, Neutropenia, Panhypogammaglobulinemia OMIM:209920
Joubert Syndrome 22
Microphthalmia OMIM:615665
Developmental And Epileptic Encephalopathy 1
Microphthalmia OMIM:308350
Hypocomplementemic Urticarial Vasculitis
Hepatomegaly, Splenomegaly, Abnormal heart valve morphology, Lymphadenopathy, Pericardial effusion ORPHA:36412
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Anophthalmia, Microphthalmia OMIM:615877
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Pulmonic stenosis, Patent foramen ovale, Lens coloboma, Microphthalmia OMIM:618914
Diffuse Cutaneous Mastocytosis
Hepatomegaly, Lymphocytosis, Myeloproliferative disorder, Abnormality of the spleen, Lymphadenopa... ORPHA:79456
Baraitser-Winter Syndrome 2
Microphthalmia OMIM:614583
Klatskin Tumor
Cholangiocarcinoma, Hepatomegaly, Extrahepatic cholestasis, Lymphadenopathy, Jaundice ORPHA:99978
Sandestig-Stefanova Syndrome
Microphthalmia, Perimembranous ventricular septal defect, Muscular ventricular septal defect OMIM:618804
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Microphthalmia ORPHA:2547
Mosaic Trisomy 9
Atrial septal defect, Abnormal liver lobulation, Endocardial fibroelastosis, Ventricular septal d... ORPHA:99776
Rere-Related Neurodevelopmental Syndrome
Ventricular septal defect, Microphthalmia, Abnormal heart morphology ORPHA:494344
Familial Hemophagocytic Lymphohistiocytosis
Cholestatic liver disease, Hepatomegaly, Hemophagocytosis, Splenomegaly, Thrombocytopenia, Neutro... ORPHA:540
Ataxia-Telangiectasia
Decreased circulating IgA level, Decreased circulating IgG level, Lymphopenia, Hypoplasia of the ... OMIM:208900
Microphthalmia, Isolated, With Corectopia
Microphthalmia OMIM:156900
Stevenson-Carey Syndrome
Atrial septal defect, Microphthalmia OMIM:611961
Kaposi Sarcoma
Generalized lymphadenopathy, Abnormality of the spleen, Abnormality of the liver ORPHA:33276
Anterior Segment Dysgenesis 7
Buphthalmos, Microphthalmia OMIM:269400
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Microphthalmia OMIM:614105
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Microphthalmia OMIM:601794
Anterior Segment Dysgenesis 5
Rieger anomaly, Microphthalmia, Hypoplasia of the fovea, Hypoplasia of the iris OMIM:604229
Histiocytosis-Lymphadenopathy Plus Syndrome
Histiocytosis, Hepatomegaly, Atrial septal defect, Splenomegaly, Cervical lymphadenopathy, Pulmon... OMIM:602782
Meige Disease
Lymph node hypoplasia, Absence of lymph node germinal center ORPHA:90186
Microphthalmia With Linear Skin Defects Syndrome
Tricuspid valve prolapse, Abnormal cardiac septum morphology, Anophthalmia, Mitral valve prolapse... ORPHA:2556
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Microphthalmia ORPHA:363741
Frontonasal Dysplasia 3
Microphthalmia OMIM:613456
Osteoporosis-Pseudoglioma Syndrome
Microphthalmia ORPHA:2788
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Leukemia, Atrial septal defect, Anophthalmia, Microphthalmia ORPHA:2526
Schimke Immuno-Osseous Dysplasia
Lymphopenia, Abnormal lymphocyte physiology, Impaired T cell function, Abnormal proportion of nai... ORPHA:1830
Microphthalmia, Syndromic 2
Double outlet right ventricle, Aortic valve stenosis, Atrial septal defect, Phthisis bulbi, Pulmo... OMIM:300166
Baraitser-Winter Syndrome 1
Bicuspid aortic valve, Aortic valve stenosis, Microphthalmia OMIM:243310
Thymic Aplasia
Decreased lymphocyte proliferation in response to mitogen, Decreased proportion of naive T cells,... ORPHA:83471
Kapur-Toriello Syndrome
Ventricular septal defect, Tetralogy of Fallot, Microphthalmia ORPHA:2328
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Anophthalmia, Microphthalmia ORPHA:2250
Proteasome-Associated Autoinflammatory Syndrome 3
Lymphopenia, Hepatomegaly, Splenomegaly, Thrombocytopenia, Anemia, Lymphadenopathy OMIM:617591
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hepatomegaly, Hemophagocytosis, Splenomegaly, Hepatosplenomegaly, Leukopenia, Thrombocytopenia, P... OMIM:603553
Immunodeficiency, Common Variable, 8, With Autoimmunity
Splenomegaly, Autoimmune thrombocytopenia, B lymphocytopenia, Thrombocytopenia, Generalized lymph... OMIM:614700
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Ventricular septal defect, Microphthalmia, Abnormal heart morphology ORPHA:404440
Fraser Syndrome 1
Abnormality of the thymus, Bilateral microphthalmos, Anophthalmia, Abnormal heart morphology OMIM:219000
Middle Ear Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy ORPHA:100084
Vacterl With Hydrocephalus
Anophthalmia, Microphthalmia ORPHA:3412
Mirage Syndrome
Lymphopenia, Leukopenia, Hypoplastic spleen, Anemia, Thrombocytopenia OMIM:617053
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Exocrine pancreatic insufficiency, Cholestatic liver disease, Hepatomegaly, Microvesicular hepati... OMIM:619418
Acute Interstitial Pneumonia
Reduced hematocrit, Lymphadenopathy, Pericardial effusion ORPHA:79126
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hepatomegaly, Hemophagocytosis, Splenomegaly, Leukopenia, Thrombocytopenia, Anemia, Lymphadenopat... OMIM:267700
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Exocrine pancreatic insufficiency, Lymphopenia, Atrial septal defect, Microphthalmia, Severe B ly... OMIM:620005
Acquired Hypertrichosis Lanuginosa
Lymphadenopathy ORPHA:2221
Cerebrooculofacioskeletal Syndrome 1
Microphthalmia OMIM:214150
Tangier Disease
Chronic noninfectious lymphadenopathy, Hepatosplenomegaly, Left ventricular hypertrophy, Anemia, ... ORPHA:31150
Kikuchi-Fujimoto Disease
Hepatomegaly, Lymphocytosis, Splenomegaly, Cervical lymphadenopathy, Abnormality of the lymph nod... ORPHA:50918
Acute Promyelocytic Leukemia
Neutropenia, Leukocytosis, Leukopenia, Thrombocytopenia, Pancytopenia, Anemia, Lymphadenopathy ORPHA:520
Seckel Syndrome 2
Microphthalmia OMIM:606744
Mevalonic Aciduria
Fluctuating hepatomegaly, Fluctuating splenomegaly, Leukocytosis, Normocytic hypoplastic anemia, ... OMIM:610377
Joubert Syndrome 37
Hepatomegaly, Microphthalmia OMIM:619185
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Optic nerve hypoplasia, Microphthalmia OMIM:614833
Fanconi Anemia, Complementation Group D2
Annular pancreas, Neutropenia, Microphthalmia, Thrombocytopenia, Pancytopenia, Bone marrow hypoce... OMIM:227646
Congenital Muscular Dystrophy With Cerebellar Involvement
Optic nerve hypoplasia, Cardiomyopathy, Microphthalmia ORPHA:370959
Ring Chromosome 10 Syndrome
Microphthalmia ORPHA:1438
Pearson Syndrome
Exocrine pancreatic insufficiency, Neutropenia, Hepatomegaly, Splenomegaly, Anemia, Pancreatic fi... ORPHA:699
Bresek Syndrome
Optic nerve hypoplasia, Microphthalmia ORPHA:85284
Encephalocraniocutaneous Lipomatosis
Atrial septal defect, Ventricular septal defect, Subvalvular aortic stenosis, Hypoplasia of the i... OMIM:613001
Cat Eye Syndrome
Tricuspid atresia, Atrial septal defect, Hypoplastic left heart, Biliary atresia, Pulmonic stenos... OMIM:115470
Pediatric Systemic Lupus Erythematosus
Lymphopenia, Leukopenia, Thrombocytopenia, Microangiopathic hemolytic anemia, Lymphadenopathy, Pe... ORPHA:93552
Squamous Cell Carcinoma Of The Anal Canal
Neoplasm of the liver, Lymphadenopathy ORPHA:424019
Nance-Horan Syndrome
Microphthalmia ORPHA:627
Charge Syndrome
Double outlet right ventricle, Lymphopenia, Secundum atrial septal defect, Atrial septal defect, ... OMIM:214800
3P25.3 Microdeletion Syndrome
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Microphthalmia ORPHA:435638
Meckel Syndrome, Type 5
Bile duct proliferation, Microphthalmia OMIM:611561
Hereditary Amyloidosis With Primary Renal Involvement
Hepatomegaly, Abnormality of the lymph nodes, Hepatosplenomegaly, Anemia, Lymphadenopathy ORPHA:85450
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Defective T cell proliferation, Leukocytosis, Hypochromic anemia, Increased circulating IgG level... OMIM:618213
Oculofaciocardiodental Syndrome
Abnormal cardiac septum morphology, Mitral valve prolapse, Microphthalmia ORPHA:2712
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Ventricular septal defect, Bilateral microphthalmos, Patent foramen ovale, Abnormal heart morphology ORPHA:369891
Cerebrooculofacioskeletal Syndrome 2
Microphthalmia OMIM:610756
Fetal Alcohol Syndrome
Atrial septal defect, Microphthalmia ORPHA:1915
Autosomal Dominant Keratitis
Hypoplastic iris stroma, Hypoplasia of the fovea, Bilateral microphthalmos, Macular hypoplasia, A... ORPHA:2334
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome
Abnormal cardiac septum morphology, Microphthalmia ORPHA:1352
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome
Lymphadenopathy ORPHA:69126
Ritscher-Schinzel Syndrome 3
Microphthalmia, Atrioventricular canal defect OMIM:619135
Lig4 Syndrome
Hepatomegaly, Leukocytosis, Pancytopenia, Lymphadenopathy, Acute leukemia ORPHA:99812
Joubert Syndrome 21
Anophthalmia OMIM:615636
Cerebrooculonasal Syndrome
Optic nerve hypoplasia, Anophthalmia OMIM:605627
Trichothiodystrophy 3, Photosensitive
Microphthalmia, Lymphopenia, Neutropenia OMIM:616395
Joubert Syndrome 14
Microphthalmia OMIM:614424
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Hepatomegaly, Lymphopenia, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Leukopenia, Thrombocyt... OMIM:615688
Congenital Disorder Of Glycosylation, Type Iil
Decreased specific anti-polysaccharide antibody level, Splenomegaly, Impaired T cell function, Pa... OMIM:614576
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Hepatomegaly, Splenomegaly, Lymphadenitis, Granulomatosis, Impaired oxidative burst, Lymphadenopa... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Hepatomegaly, Splenomegaly, Lymphadenitis, Granulomatosis, Impaired oxidative burst, Lymphadenopa... OMIM:233710
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Microphthalmia OMIM:617306
Heart And Brain Malformation Syndrome
Ventricular septal defect, Microphthalmia OMIM:616920
Pseudotrisomy 13 Syndrome
Tricuspid atresia, Atrial septal defect, Ventricular septal defect, Dextrocardia, Complete atriov... OMIM:264480
Vici Syndrome
Decreased circulating IgG level, Decreased T cell activation, Decreased proportion of CD4-positiv... OMIM:242840
Drug Reaction With Eosinophilia And Systemic Symptoms
Lymphocytosis, Eosinophilia, Myocarditis, Hepatitis, Lymphadenopathy ORPHA:139402
Thyroid Lymphoma
Lymphadenopathy ORPHA:97285
Trichothiodystrophy 4, Nonphotosensitive
Ventricular septal defect, Microphthalmia OMIM:234050