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
anophthalmia Mcl1em1(IMPC)Mbp HET Early adult 0.00
abnormal heart morphology 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
small spleen Mcl1em1(IMPC)Mbp HET Early adult 0.00
enlarged lymph nodes Mcl1em1(IMPC)Mbp HET Early adult 0.00
abnormal lymph node morphology Mcl1em1(IMPC)Mbp HET Early adult 0.00
microphthalmia Mcl1em1(IMPC)Mbp HET Early adult 0.00
increased mean corpuscular volume Mcl1em1(IMPC)Mbp HET Early adult 4.26×10-10
abnormal eye morphology Mcl1em1(IMPC)Mbp HET Early adult 0.00

Download data as:  TSV  XLS

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Viewing: all phenotypes
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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 Lateral Orientation

12 Images

X-ray

XRay Images Whole Body Dorso Ventral

36 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
Decreased proportion of CD3-positive T cells, Lymphopenia, Defective T cell proliferation OMIM:615615
Wiskott-Aldrich Syndrome 2
Thrombocytopenia, Defective T cell proliferation, Decreased proportion of CD8-positive T cells, R... OMIM:614493
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
T lymphocytopenia, Decreased circulating IgG level OMIM:242870
Combined Immunodeficiency, X-Linked
Decreased proportion of CD4-positive helper T cells, Decreased circulating IgG level, Decreased p... OMIM:312863
Immunodeficiency 24
Partial absence of specific antibody response to tetanus vaccine, Defective T cell proliferation,... OMIM:615897
Combined Cellular And Humoral Immune Defects With Granulomas
T lymphocytopenia, Decreased circulating IgG level, B lymphocytopenia OMIM:233650
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Cutaneous anergy, Decreased helper T cell proportion, Pancytopenia, Hypersplenism, Splenomegaly OMIM:183350
Immunodeficiency 15A
Decreased proportion of CD4-positive helper T cells, Cutaneous abscess, Decreased proportion of C... OMIM:618204
Immunodeficiency 40
Lymphopenia OMIM:616433
Immunodeficiency 79
Decreased proportion of CD4-positive T cells OMIM:619238
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
T lymphocytopenia ORPHA:169095
Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive
Hypochromia, Pyridoxine-responsive sideroblastic anemia, Sideroblastic anemia, Decreased mean cor... OMIM:206000
Reticular Dysgenesis
Congenital agranulocytosis, Lymphopenia, Lack of T cell function, Hypoplasia of the thymus, Impai... OMIM:267500
Hepatic Venoocclusive Disease With Immunodeficiency
Absence of lymph node germinal center, Endocardial fibrosis, Abnormality of the liver OMIM:235550
Lymphoid System Deterioration, Progressive
Decreased circulating total IgM, Abnormal T cell morphology, Lymphopenia, Decreased circulating I... OMIM:247630
Immunodeficiency 17
Autoimmune hemolytic anemia, Decreased proportion of CD8-positive T cells OMIM:615607
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Increased circulating IgM level, Increased circulating IgE level, Decreased proportion of CD8-pos... OMIM:617241
Dehydrated Hereditary Stomatocytosis 2
Hemolytic anemia, Increased mean corpuscular hemoglobin concentration, Reticulocytosis, Anisopoik... OMIM:616689
Cd8 Deficiency, Familial
Absence of CD8-positive T cells OMIM:608957
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased proportion of CD8-positive T cells, Decreased proportion of CD4-positive helper T cells... OMIM:611926
Gombo Syndrome
Microphthalmia, Abnormal heart morphology OMIM:233270
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Microphthalmia, Anophthalmia ORPHA:85275
Reticuloendotheliosis, X-Linked
Jaundice, Hepatosplenomegaly, Anemia, Lymphadenopathy OMIM:312500
Anemia, Hypochromic Microcytic, With Iron Overload 1
Hypochromia, Decreased mean corpuscular volume, Abnormality of the liver, Anemia OMIM:206100
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Neutropenia, Thrombocytopenia, Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpu... OMIM:619041
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
T lymphocytopenia DECIPHER:16
Immunodeficiency 32A
Lymphadenopathy OMIM:614893
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Lymphocytosis, T lymphocytopenia, Increased circulating IgE level, Decreased proportion of CD8-po... ORPHA:169154
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
T lymphocytopenia, Decreased helper T cell proportion OMIM:601705
Immunodeficiency 14A, Autosomal Dominant
Decreased proportion of class-switched memory B cells, T lymphocytopenia, Increased circulating I... OMIM:615513
Microphthalmia, Isolated 1
Microphthalmia, Anophthalmia OMIM:251600
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Hypochromia, Decreased mean corpuscular volume, Anemia OMIM:205950
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency
Lymphadenopathy ORPHA:319600
Apolipoprotein A-I Deficiency
Anemia, Abnormality of the liver, Lymphadenopathy, Splenomegaly ORPHA:425
Sickle Cell Anemia
Iron deficiency anemia, Hypochromic anemia, Thrombocytosis, Hemolytic anemia, Chronic hemolytic a... ORPHA:232
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hypochromia, Hepatomegaly, Anemia, Splenomegaly, Decreased mean corpuscular volume, Poikilocytosis OMIM:615234
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
T lymphocytopenia, Abnormally low T cell receptor excision circle level OMIM:618806
Cernunnos-Xlf Deficiency
T lymphocytopenia, Decreased circulating antibody level, Lymphopenia, Thrombocytopenia, B lymphoc... ORPHA:169079
Pulmonary Nodular Lymphoid Hyperplasia
Mediastinal lymphadenopathy, Plasmacytosis, Follicular hyperplasia ORPHA:60026
Immunodeficiency 50
Decreased circulating antibody level, Lymphopenia, Neutropenia OMIM:300988
Microphthalmia, Syndromic 12
Anophthalmia, Hypoplastic left atrium, Microphthalmia, Ventricular septal defect OMIM:615524
Agammaglobulinemia 8, Autosomal Dominant
B lymphocytopenia, Agammaglobulinemia OMIM:616941
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Hypoplasia of the thymus, Lymphopenia, Agammaglobulinemia OMIM:200900
Monocyte Chemotactic Disorder
Cutaneous anergy OMIM:252250
Dextrocardia With Unusual Facies And Microphthalmia
Dextrocardia, Microphthalmia, Anophthalmia OMIM:221950
Dehydrated Hereditary Stomatocytosis
Nonspherocytic hemolytic anemia, Increased hemoglobin concentration, Hemolytic anemia, Increased ... ORPHA:3202
Microphthalmia, Isolated, With Coloboma 10
Microphthalmia, Anophthalmia OMIM:616428
Microphthalmia, Isolated, With Coloboma 5
Microphthalmia, Bilateral microphthalmos, Anophthalmia OMIM:611638
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Nanophthalmos 2
Microphthalmia OMIM:609549
Immunodeficiency 38 With Basal Ganglia Calcification
Lymphadenopathy OMIM:616126
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Autoimmune hemolytic anemia, Increased circulating antibody level, Lymphopenia, Plasmacytosis OMIM:247800
Squamous Cell Carcinoma Of The Esophagus
Lymphadenopathy ORPHA:99977
Retinal Telangiectasia And Hypogammaglobulinemia
Decreased circulating IgG level, Reduced delayed hypersensitivity OMIM:267900
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Decreased mean corpuscular hemoglobin concentration, Stomatocytosis, Reticulocy... ORPHA:3203
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Thrombocytopenia, Acute myeloid leukemia, Increased mean corpuscular volume OMIM:252270
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Decreased circulating total IgM, Decreased circulating IgG level, Abnormally low T cell receptor ... OMIM:618987
Diamond-Blackfan Anemia 6
Atrial septal defect, Ventricular hypertrophy, Persistence of hemoglobin F, Ventricular septal de... OMIM:612561
Intrinsic Factor Deficiency
Megaloblastic anemia, Megaloblastic erythroid hyperplasia, Increased mean corpuscular volume OMIM:261000
Mantle Cell Lymphoma
Lymphadenopathy, Splenomegaly ORPHA:52416
Immunodeficiency 81
Decreased proportion of class-switched memory B cells, Autoimmune hemolytic anemia, Reduced natur... OMIM:619374
Caspase 8 Deficiency
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:607271
Macrosomia With Microphthalmia, Lethal
Microphthalmia OMIM:248110
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hypochromia, Cirrhosis, Erythroid hyperplasia, Hepatomegaly, Anisocytosis, Jaundice, Anemia, Sple... OMIM:616860
Nanophthalmos 4
Microphthalmia OMIM:615972
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Lymphopenia, Hepatiti... ORPHA:444463
Severe Combined Immunodeficiency, X-Linked
T lymphocytopenia, Decreased circulating IgE, Impaired lymphocyte transformation with phytohemagg... OMIM:300400
Microphthalmia, Isolated, With Cataract 1
Microphthalmia OMIM:156850
Bone Marrow Failure Syndrome 6
Persistence of hemoglobin F, Lymphopenia, Neutropenia, Anemia, Increased mean corpuscular volume,... OMIM:618849
Congenital Toxoplasmosis
Thrombocytopenia, Jaundice, Hepatomegaly, Microphthalmia, Anemia, Cardiomegaly, Lymphadenopathy ORPHA:858
Diamond-Blackfan Anemia 8
Increased mean corpuscular volume, Neutropenia, Macrocytic anemia OMIM:612563
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia OMIM:616335
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Splenomegaly OMIM:618495
Immunodeficiency 75
Decreased proportion of class-switched memory B cells, Hepatosplenomegaly, Follicular hyperplasia... OMIM:619126
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Increased CD4:CD8 ratio, Impaired lymphocyte transformation with phytohemagglutinin, Decreased sp... OMIM:617006
Immunodeficiency 25
T lymphocytopenia, Increased circulating IgM level, Increased circulating IgE level, Autoimmune h... OMIM:610163
Immunodeficiency With Hyper-Igm, Type 3
Impaired memory B cell generation, Increased circulating IgM level, Decreased circulating IgE, Ne... OMIM:606843
Diamond-Blackfan Anemia 3
Increased mean corpuscular volume, Macrocytic anemia, Persistence of hemoglobin F, Reticulocytopenia OMIM:610629
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Autoimmune thrombocytopenia, Decreased specific anti-polysaccharide antibody level, Decreased pro... OMIM:300853
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive
Hepatomegaly, T lymphocytopenia, Lymphadenopathy, Splenomegaly OMIM:608971
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
T lymphocytopenia, Increased circulating IgE level, Lack of T cell function, Lymphopenia, B lymph... ORPHA:277
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, B lymphocytopenia, Neutropenia OMIM:613107
Immunodeficiency 13
T lymphocytopenia, Lymphopenia, Decreased proportion of CD4-positive helper T cells, Decreased CD... OMIM:615518
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Microphthalmia OMIM:615771
Immunodeficiency 76
T lymphocytopenia, Lymphopenia, B lymphocytopenia, Splenomegaly OMIM:619164
B-Cell Expansion With Nfkb And T-Cell Anergy
Decreased specific antibody response to polysaccharide vaccine, Splenomegaly, Decreased circulati... OMIM:616452
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
T lymphocytopenia, B lymphocytopenia, Panhypogammaglobulinemia OMIM:601457
Autoinflammation With Episodic Fever And Lymphadenopathy
Recurrent tonsillitis, Microcytic anemia, Hepatomegaly, Splenomegaly, Lymphadenopathy OMIM:618852
Immunodeficiency 57 With Autoinflammation
Partial absence of specific antibody response to tetanus vaccine, T lymphocytopenia, Decreased ci... OMIM:618108
Kerion Celsi
Lymphadenopathy ORPHA:499
Microphthalmia, Isolated, With Coloboma 6
Optic disc hypoplasia, Hypoplasia of the fovea, Bilateral microphthalmos OMIM:613703
Autoimmune Lymphoproliferative Syndrome
Iron deficiency anemia, Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory ... OMIM:601859
Immunodeficiency 72 With Autoinflammation
Increased circulating IgE level, Increased circulating IgG level, Increased B cell count, Increas... OMIM:618982
Microphthalmia, Isolated, With Coloboma 7
Microphthalmia OMIM:614497
Immunodeficiency, Common Variable, 1
Decreased proportion of class-switched memory B cells, Neutropenia in presence of anti-neutropil ... OMIM:607594
Epidermodysplasia Verruciformis, Susceptibility To, 5
T lymphocytopenia, Lymphopenia OMIM:618309
Fryns Microphthalmia Syndrome
Microphthalmia, Anophthalmia OMIM:600776
Fanconi Anemia, Complementation Group G
Neutropenia, Thrombocytopenia, Microphthalmia, Anemia, Leukemia OMIM:614082
Transcobalamin Deficiency
Decreased circulating antibody level, Lymphopenia, Neutropenia, Thrombocytopenia, Pancytopenia, D... ORPHA:859
Immunodeficiency 64
Abnormal CD4:CD8 ratio, Increased circulating IgM level, Increased proportion autoreactive unresp... OMIM:618534
Immunodeficiency 70
Decreased circulating antibody level, Decreased proportion of CD4-positive helper T cells, Decrea... OMIM:618969
Majeed Syndrome
Microcytic anemia, Erythroid hyperplasia, Anemia of inadequate production, Decreased mean corpusc... OMIM:609628
Microphthalmia, Isolated 3
Microphthalmia, Anophthalmia OMIM:611038
Microphthalmia, Isolated, With Coloboma 4
Microphthalmia OMIM:251505
Combined Immunodeficiency Due To Partial Rag1 Deficiency
T lymphocytopenia, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibod... ORPHA:231154
Griscelli Syndrome, Type 2
Hemophagocytosis, Hepatosplenomegaly, Reduced delayed hypersensitivity OMIM:607624
Familial Pseudohyperkalemia
Reticulocytosis, Episodic hemolytic anemia, Stomatocytosis, Increased mean corpuscular volume ORPHA:90044
Immunodeficiency 52
Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Decreased circulating antibody lev... OMIM:617514
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Abnormality of T cell physiology OMIM:308220
Immunodeficiency, Common Variable, 13
Pancytopenia, Decreased circulating antibody level, Acute lymphoblastic leukemia, B lymphocytopenia OMIM:616873
Immunodeficiency 37
Decreased proportion of central memory CD4-positive, alpha-beta T cells, Decreased circulating an... OMIM:616098
Mmep Syndrome
Microphthalmia, Ventricular septal defect ORPHA:3434
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Cutaneous anergy, T lymphocytopenia, Absent natural killer cells, Lymphopenia, Impaired lymphocyt... OMIM:600802
Mast Cell Sarcoma
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Mastocytosis, Lymphadenopathy ORPHA:66661
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Microphthalmia OMIM:251700
Premature Ovarian Failure 12
Microphthalmia OMIM:616947
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Hepatomegaly, Microphthalmia ORPHA:2432
Meckel Syndrome, Type 8
Microphthalmia, Anophthalmia OMIM:613885
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hemophagocytosis, Neutropenia, Thrombocytopenia, Jaundice, Hepatomegaly, Anemia, Splenomegaly, Ly... OMIM:603552
Congenital Dyserythropoietic Anemia Type Iii
Abnormal erythrocyte morphology, Anisocytosis, Anemia, Increased mean corpuscular volume, Poikilo... ORPHA:98870
Congenital Rubella Syndrome
Atrial septal defect, Ventricular septal defect, Aplasia/Hypoplasia of the iris, Thrombocytopenia... ORPHA:290
Oslam Syndrome
Abnormality of neutrophils, Increased mean corpuscular volume ORPHA:2760
T-Cell Receptor-Alpha/Beta Deficiency
Hypereosinophilia, Lymphadenopathy OMIM:615387
Matthew-Wood Syndrome
Abnormal spleen morphology, Microphthalmia, Anophthalmia, Aplasia/Hypoplasia of the pancreas, Ann... ORPHA:2470
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Dilated cardiomyopathy, Lymphadenopathy, Hepatomegaly OMIM:615895
Combined Immunodeficiency Due To Zap70 Deficiency
Lymphocytosis, Decreased proportion of CD8-positive T cells, Autoimmune thrombocytopenia, Autoimm... ORPHA:911
Mu-Heavy Chain Disease
Hepatomegaly, Abnormal B cell count, Anemia, Splenomegaly, Lymphadenopathy ORPHA:100024
Microphthalmia, Syndromic 9
Atrial septal defect, Truncus arteriosus, Single ventricle, Ventricular septal defect, Hypoplasti... OMIM:601186
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Partial absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine, T l... OMIM:618986
Oculocerebrocutaneous Syndrome
Microphthalmia, Anophthalmia OMIM:164180
Adenocarcinoma Of The Esophagus
Lymphadenopathy ORPHA:99976
Cerebrooculofacioskeletal Syndrome 3
Microphthalmia OMIM:616570
Candidiasis, Familial, 1
Cutaneous anergy OMIM:114580
Kimura Disease
Eosinophilia, Follicular hyperplasia, Lymphadenopathy ORPHA:482
Immunodeficiency, Common Variable, 14
Decreased proportion of class-switched memory B cells, Defective B cell differentiation, Decrease... OMIM:617765
Nanophthalmos
Microphthalmia ORPHA:35612
Diamond-Blackfan Anemia 7
Ventricular septal defect, Secundum atrial septal defect, Neutropenia, Increased mean corpuscular... OMIM:612562
16Q24.3 Microdeletion Syndrome
Ventricular septal defect, Thrombocytopenia, Optic nerve hypoplasia, Dilated cardiomyopathy, Incr... ORPHA:261250
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hemophagocytosis, Thrombocytopenia, Anemia, Splenomegaly, Hepatosplenomegaly, Lymphadenopathy OMIM:613101
Ras-Associated Autoimmune Leukoproliferative Disorder
Lymphocytosis, Monocytosis, Hemolytic anemia, Autoimmune thrombocytopenia, Follicular hyperplasia... OMIM:614470
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutrop... OMIM:619220
Shwachman-Diamond Syndrome
Exocrine pancreatic insufficiency, Abnormal heart morphology, Chronic neutropenia, Neutropenia, I... ORPHA:811
Cataract 11, Multiple Types
Microphthalmia OMIM:610623
Methylcobalamin Deficiency Type Cble
Neutropenia, Pancytopenia, Increased mean corpuscular volume, Abnormality of the liver, Macrocyti... ORPHA:2169
Wiskott-Aldrich Syndrome
Iron deficiency anemia, Decreased mean platelet volume, Increased circulating IgE level, Decrease... OMIM:301000
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Reticulocytosis, Decreased mean corpuscular volume, Hepatosplenomegaly, Hemolytic anemia OMIM:611590
Immunodeficiency 68
Abscess, T lymphocytopenia, B lymphocytopenia, Abnormal natural killer cell count OMIM:612260
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Hepatomegaly, Lymphadenopathy, Splenomegaly ORPHA:86893
Leukocyte Adhesion Deficiency, Type Iii
Leukocytosis, Extramedullary hematopoiesis, Hepatomegaly, Anemia, Splenomegaly, Hepatosplenomegal... OMIM:612840
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Microphthalmia ORPHA:1574
Triokinase And Fmn Cyclase Deficiency Syndrome
Microcytic anemia, Hepatic steatosis, Hepatomegaly, Microphthalmia, Pancreatitis, Dilated cardiom... OMIM:618805
Beta-Thalassemia Intermedia
Cirrhosis, Persistence of hemoglobin F, Leukocytosis, Extramedullary hematopoiesis, Hepatocellula... ORPHA:231222
Rosaï-Dorfman Disease
Anemia, Lymphadenopathy ORPHA:158014
Alpha-Heavy Chain Disease
Hepatomegaly, Anemia, Lymphadenopathy, Splenomegaly ORPHA:100025
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Autoimmune hemolytic anemia, Decreased circulating antibody level, Decreased proportion of CD3-po... ORPHA:331206
Carcinoma Of Esophagus
Lymphadenopathy ORPHA:70482
Elliptocytosis 3
Chronic hemolytic anemia, Elliptocytosis, Intermittent jaundice, Pyropoikilocytosis, Decreased me... OMIM:617948
Microphthalmia, Isolated 4
Microphthalmia OMIM:613094
Fanconi Anemia, Complementation Group J
Bone marrow hypocellularity, Microphthalmia OMIM:609054
Dominant Beta-Thalassemia
Hypochromic microcytic anemia, Cirrhosis, Persistence of hemoglobin F, Decreased mean corpuscular... ORPHA:231226
Lymphoproliferative Syndrome 3
Reduced natural killer cell count, Hepatosplenomegaly, Lymphadenopathy OMIM:618261
Autoimmune Lymphoproliferative Syndrome, Type Iia
Iron deficiency anemia, Coombs-positive hemolytic anemia, Elevated proportion of CD4-negative, CD... OMIM:603909
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
T lymphocytopenia, Endocardial fibroelastosis, Pericardial effusion, Restrictive cardiomyopathy, ... OMIM:619313
Follicular Lymphoma
Mediastinal lymphadenopathy, Abnormality of the peritoneum, Lymphadenopathy, Splenomegaly ORPHA:545
Xk Aprosencephaly Syndrome
Atrial septal defect, Microphthalmia, Ventricular septal defect ORPHA:3469
Microphthalmia, Isolated, With Coloboma 3
Microphthalmia OMIM:610092
Beta-Thalassemia Major
Hypochromic microcytic anemia, Cirrhosis, Persistence of hemoglobin F, Decreased mean corpuscular... ORPHA:231214
Castleman Disease
Restrictive cardiomyopathy, Generalized lymphadenopathy, Follicular hyperplasia, Thrombocytopenia... ORPHA:160
Immunodeficiency 27A
Thrombocytosis, Leukocytosis, Histiocytosis, Anemia, Splenomegaly, Enlarged mesenteric lymph node... OMIM:209950
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
T lymphocytopenia, Absent natural killer cells, Partial IgA deficiency, Lymphopenia, Impaired lym... ORPHA:35078
Autoimmune Lymphoproliferative Syndrome, Type Iii
Decreased proportion of class-switched memory B cells, Increased proportion autoreactive unrespon... OMIM:615559
Blackfan-Diamond Anemia
Elevated red cell adenosine deaminase level, Erythroid hypoplasia, Atrial septal defect, Pure red... ORPHA:124
Combined Immunodeficiency Due To Dock8 Deficiency
T lymphocytopenia, B lymphocytopenia, Increased circulating IgE level ORPHA:217390
Trisomy 13
Atrial septal defect, Ventricular septal defect, Aplasia/Hypoplasia of the iris, Microphthalmia, ... ORPHA:3378
Manitoba Oculotrichoanal Syndrome
Microphthalmia, Anophthalmia OMIM:248450
Burkitt Lymphoma
Abnormality of the lymph nodes, Decreased proportion of CD4-positive helper T cells, Abnormality ... ORPHA:543
Immunodeficiency 10
Hypoplasia of the iris, Thrombocytopenia, Autoimmune hemolytic anemia, Lymphadenopathy OMIM:612783
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Reticulocytopenia, Anisopoikilocytosis, Dysplastic erythropoesis, Anemia, Elevated hepatic iron c... ORPHA:300298
Progressive Multifocal Leukoencephalopathy
Abnormal proportion of CD4-positive T cells, Decreased proportion of CD8-positive T cells ORPHA:217260
Lcat Deficiency
Hepatomegaly, Hemolytic anemia, Lymphadenopathy, Splenomegaly ORPHA:650
Foveal Hypoplasia 2
Hypoplasia of the fovea, Microphthalmia OMIM:609218
Deafness, Autosomal Dominant 34, With Or Without Inflammation
Lymphadenopathy OMIM:617772
Lymphoproliferative Syndrome 1
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Pericardial effusion, Decreased proport... OMIM:613011
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Decreased proportion of class-switched memory B cells, Coombs-positive hemolytic anemia, Autoimmu... OMIM:619375
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Megaloblastic anemia, Increased mean corpuscular volume OMIM:277410
Immunodeficiency With Hyper-Igm, Type 4
Autoimmune hemolytic anemia, Absence of lymph node germinal center, Autoimmune thrombocytopenia OMIM:608184
Hodgkin Lymphoma
Hepatomegaly, Lymphadenopathy, Splenomegaly ORPHA:98293
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Anophthalmia ORPHA:411986
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Chronic hemolytic anemia, Elliptocytosis, Hepatocellular necrosis, Reticulocytosis, Hepatomegaly,... OMIM:618278
Immunodeficiency By Defective Expression Of Mhc Class Ii
T lymphocytopenia, Abnormal CD4:CD8 ratio, Autoimmune thrombocytopenia, Autoimmune hemolytic anem... ORPHA:572
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Decreased proportion of CD3-positive T cells, Decreased proportion of CD4-positive helper T cells... ORPHA:276
Immunodeficiency 22
Decreased proportion of CD4-positive helper T cells OMIM:615758
Schnitzler Syndrome
Leukocytosis, Hepatomegaly, Anemia, Splenomegaly, Lymphadenopathy ORPHA:37748
Microgastria-Limb Reduction Defects Association
Secundum atrial septal defect, Biliary tract abnormality, Asplenia, Splenogonadal fusion, Anophth... OMIM:156810
Candidiasis, Familial, 2
Hypereosinophilia, Lymphadenopathy OMIM:212050
Immunodeficiency 55
Neutropenia, Lymphadenopathy OMIM:617827
Refractory Anemia With Excess Blasts
Leukocytosis, Thrombocytopenia, Acute myeloid leukemia, Anemia of inadequate production, Bone mar... ORPHA:86839
Faciothoracogenital Syndrome
Microphthalmia OMIM:227320
Microcephaly-Microcornea Syndrome, Seemanova Type
Microphthalmia ORPHA:2528
Xeroderma Pigmentosum, Complementation Group G
Microphthalmia OMIM:278780
T-Cell Immunodeficiency With Thymic Aplasia
Aplasia of the thymus, Lymphopenia, Abnormal T cell morphology, Hepatosplenomegaly, Reduced delay... OMIM:242700
Microphthalmia, Isolated 6
Microphthalmia OMIM:613517
Indolent Systemic Mastocytosis
Increased proportion of CD25+ mast cells, Hepatomegaly, Splenomegaly, Abnormal mast cell morpholo... ORPHA:98848
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Anophthalmia, Microphthalmia, Ventricular septal defect ORPHA:77298
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)
Abnormality of the lymph nodes OMIM:136580
Congenital Varicella Syndrome
Microphthalmia ORPHA:291
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Liver abscess, Abnormality of the pancreas, Anemia, Neutrophilia, Abnormality of the lymphatic sy... ORPHA:54251
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Microphthalmia OMIM:616171
Selective Igm Deficiency
Cutaneous abscess, Decreased proportion of CD8-positive T cells, Autoimmune thrombocytopenia, Dec... ORPHA:331235
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Increased circulating antibody level, Decreased proportion of CD3-positive T cells, Lymphopenia, ... ORPHA:169160
Omenn Syndrome
Severe B lymphocytopenia, Hypoplasia of the thymus, Thrombocytopenia, Hepatomegaly, Eosinophilia,... OMIM:603554
Ehlers-Danlos Syndrome, Beasley-Cohen Type
Bilateral microphthalmos OMIM:608763
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Leukemia, Microphthalmia, Ventricular septal defect OMIM:602501
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, Intermittent thrombocytopenia, Neutropenia, B lymphocytopenia, Splenomega... OMIM:150550
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Absent tonsils, Lymph node hypoplasia, Aplasia of the thymus OMIM:602450
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Mental Retardation
Microphthalmia OMIM:120433
Primary Myelofibrosis
Poikilocytosis, Thrombocytosis, Leukocytosis, Extramedullary hematopoiesis, Pancytopenia, Thrombo... ORPHA:824
Gracile Bone Dysplasia
Aniridia, Hypoplastic spleen, Microphthalmia, Asplenia OMIM:602361
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Microphthalmia OMIM:614830
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia
Chronic noninfectious lymphadenopathy, Abnormality of the lymph nodes ORPHA:97290
Cold Agglutinin Disease
Hepatomegaly, Hemolytic anemia, Lymphadenopathy, Splenomegaly ORPHA:56425
Granulomatous Slack Skin
Abnormality of the lymph nodes ORPHA:33111
Dihydropyrimidine Dehydrogenase Deficiency
Microphthalmia OMIM:274270
Leishmaniasis
Abnormal macrophage morphology, Pancytopenia, Thrombocytopenia, Hepatomegaly, Splenomegaly, Leuko... ORPHA:507
Proteasome-Associated Autoinflammatory Syndrome 2
Thrombocytopenia, Lymphadenopathy OMIM:618048
Pfapa Syndrome
Hepatomegaly, Lymphadenopathy, Splenomegaly ORPHA:42642
Familial Papillary Or Follicular Thyroid Carcinoma
Chronic noninfectious lymphadenopathy, Abnormality of the lymph nodes ORPHA:319487
Anophthalmia Plus Syndrome
Anophthalmia ORPHA:1104
Immunodeficiency With Hyper-Igm, Type 1
Impaired memory B cell generation, Increased circulating IgM level, Hemolytic anemia, Decreased c... OMIM:308230
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
T lymphocytopenia, Increased circulating IgE level, Decreased proportion of CD8-positive T cells,... ORPHA:508533
Lymphoproliferative Syndrome, X-Linked, 1
Lymphocytosis, Hemophagocytosis, Neutropenia, Pancytopenia, Thrombocytopenia, Hepatomegaly, Fulmi... OMIM:308240
Classic Mycosis Fungoides
Hepatomegaly, Abnormal lymphocyte morphology, Lymphadenopathy, Splenomegaly ORPHA:2584
Immunodeficiency With Hyper-Igm, Type 2
Lymphadenopathy OMIM:605258
Microphthalmia With Limb Anomalies
Microphthalmia, Anophthalmia OMIM:206920
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
T lymphocytopenia, Hemolytic anemia, Increased circulating IgE level, Decreased specific anti-pol... OMIM:606367
Lymphoproliferative Syndrome 2
Hemophagocytosis, Pancytopenia, Hepatomegaly, Aplastic anemia, Splenomegaly, Hepatosplenomegaly, ... OMIM:615122
Lissencephaly Syndrome, Norman-Roberts Type
Patent foramen ovale, Hypoplastic spleen, Atrial septal defect ORPHA:89844
Idiopathic Uveal Effusion Syndrome
Microphthalmia ORPHA:209956
Systemic-Onset Juvenile Idiopathic Arthritis
Hepatomegaly, Pericarditis, Lymphadenopathy, Splenomegaly ORPHA:85414
Microphthalmia, Syndromic 3
Optic nerve hypoplasia, Anophthalmia, Microphthalmia, Ventricular septal defect OMIM:206900
Immunodeficiency, Common Variable, 2
Hepatomegaly, Follicular hyperplasia, Lymphadenopathy, Splenomegaly OMIM:240500
Cerebrooculonasal Syndrome
Anophthalmia ORPHA:66625
Solitary Median Maxillary Central Incisor
Microphthalmia, Anophthalmia OMIM:147250
Neurooculocardiogenitourinary Syndrome
Atrial septal defect, Ventricular septal defect, Cardiomegaly, Microphthalmia, Patent foramen ovale OMIM:618652
Congenital Primary Aphakia
Aplasia/Hypoplasia affecting the anterior segment of the eye, Congenital aphakia, Microphthalmia ORPHA:83461
Cataract 9, Multiple Types
Microphthalmia OMIM:604219
Congenital Fibrinogen Deficiency
Microphthalmia, Right ventricular hypertrophy, Left ventricular hypertrophy, Splenic rupture ORPHA:335
Nephroblastoma
Aniridia, Neoplasm of the liver, Lymphadenopathy ORPHA:654
Hydrolethalus
Microphthalmia, Anophthalmia ORPHA:2189
Familial Cold Autoinflammatory Syndrome 2
Leukocytosis, Lymphadenopathy, Splenomegaly OMIM:611762
Cinca Syndrome
Leukocytosis, Eosinophilia, Anemia, Hepatosplenomegaly, Lymphadenopathy OMIM:607115
2Q24 Microdeletion Syndrome
Microphthalmia ORPHA:1617
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Microphthalmia, Anophthalmia OMIM:615877
Meckel Syndrome
Situs inversus totalis, Accessory spleen, Pancreatic cysts, Aplasia/Hypoplasia of the iris, Pancr... ORPHA:564
Microphthalmia With Brain And Digit Anomalies
Microphthalmia, Anophthalmia ORPHA:139471
Griscelli Syndrome Type 2
Hemophagocytosis, Neutropenia, Pancytopenia, Jaundice, Hepatomegaly, Splenomegaly, Lymphadenopathy ORPHA:79477
Trisomy 1Q
Anophthalmia, Ventricular septal defect ORPHA:261344
Immunodeficiency With Hyper-Igm, Type 5
Lymphadenopathy OMIM:608106
Rhabdoid Tumor
Thrombocytopenia, Neoplasm of the liver, Anemia, Lymphadenopathy ORPHA:69077
Roifman Syndrome
Noncompaction cardiomyopathy, Ventricular septal defect, Lymphadenopathy, Hepatomegaly, Splenomeg... OMIM:616651
Tularemia
Abnormal nasopharyngeal adenoid morphology, Leukocytosis, Thrombocytopenia, Anemia, Mediastinal l... ORPHA:3392
Fish-Eye Disease
Hepatomegaly, Lymphadenopathy, Splenomegaly ORPHA:79292
Laryngeal Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy ORPHA:100083
Deafness-Lymphedema-Leukemia Syndrome
Myeloproliferative disorder, Leukocytosis, Thrombocytopenia, Hepatomegaly, Abnormal neutrophil co... ORPHA:3226
Retinitis Pigmentosa And Erythrocytic Microcytosis
Elliptocytosis, Anisocytosis, Anemia, Decreased mean corpuscular volume, Poikilocytosis OMIM:616959
Biemond Syndrome Type 2
Microphthalmia ORPHA:141333
Aregenerative Anemia
Erythroid hypoplasia, Decreased proportion of CD4-positive helper T cells, Neutropenia, Reticuloc... ORPHA:101096
Oculotrichoanal Syndrome
Microphthalmia, Anophthalmia ORPHA:2717
Combined Immunodeficiency Due To Crac Channel Dysfunction
Hemolytic anemia, Hypoplasia of the iris, Thrombocytopenia, Hepatomegaly, Splenomegaly, Lymphaden... ORPHA:169090
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Microphthalmia OMIM:610023
Cockayne Syndrome Type 2
Hepatomegaly, Anophthalmia ORPHA:90322
Microphthalmia, Syndromic 5
Optic nerve hypoplasia, Microphthalmia, Anophthalmia OMIM:610125
X-Linked Lymphoproliferative Disease
Lymphocytosis, Pancytopenia, Histiocytosis, Increased B cell count, Increased proportion of CD25+... ORPHA:2442
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
T lymphocytopenia, Increased circulating IgM level, Reduced natural killer cell count, Decreased ... OMIM:242860
Pgm3-Cdg
T lymphocytopenia, Abnormal CD4:CD8 ratio, Cutaneous abscess, Hemolytic anemia, Increased circula... ORPHA:443811
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Microphthalmia OMIM:212550
Cofs Syndrome
Microphthalmia ORPHA:1466
Gamma-Heavy Chain Disease
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Abnormal lymphocyte morphology, Thrombo... ORPHA:100026
Subaortic Stenosis-Short Stature Syndrome
Subvalvular aortic stenosis, Microphthalmia, Biliary tract abnormality, Membranous subvalvular ao... ORPHA:3191
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Microphthalmia, Ventricular septal defect ORPHA:93267
Microphthalmia, Syndromic 13
Microphthalmia OMIM:300915
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Microphthalmia OMIM:267760
Immunodeficiency 54
Hepatomegaly, Reduced natural killer cell count, Lymphadenopathy, Splenomegaly OMIM:609981
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Recurrent tonsillitis, Hemolytic anemia, Lymphadenitis, Lymphopenia, Impaired oxidative burst, Ac... OMIM:618935
17Q12 Microduplication Syndrome
Atrial septal defect, Microphthalmia ORPHA:261272
Oculogastrointestinal Neurodevelopmental Syndrome
Unilateral microphthalmos, Bilateral microphthalmos, Bicuspid aortic valve OMIM:619318
Immunodeficiency 27B
Generalized lymphadenopathy OMIM:615978
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Microphthalmia ORPHA:324416
Fibular Hemimelia
Thrombocytopenia, Anophthalmia, Abnormal heart morphology ORPHA:93323
Fanconi Anemia, Complementation Group I
Atrial septal defect, Ventricular septal defect, Neutropenia, Optic nerve hypoplasia, Microphthal... OMIM:609053
Wiskott-Aldrich Syndrome, Autosomal Dominant
Iron deficiency anemia, Decreased mean platelet volume, Hemolytic anemia, Increased circulating I... OMIM:600903
Refsum Disease
Microphthalmia, Cardiomyopathy, Splenomegaly ORPHA:773
Desmoplastic Small Round Cell Tumor
Abnormality of the peritoneum, Hepatomegaly, Anemia, Mediastinal lymphadenopathy, Neoplasm of the... ORPHA:83469
Felty Syndrome
Pericarditis, Abnormal lymphocyte morphology, Neutropenia, Thrombocytopenia, Hepatomegaly, Anemia... ORPHA:47612
Purine Nucleoside Phosphorylase Deficiency
Pure red cell aplasia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Lymph node hypop... OMIM:613179
Aggressive Systemic Mastocytosis
Increased proportion of CD25+ mast cells, Leukocytosis, Neutropenia, Pancytopenia, Thrombocytopen... ORPHA:98850
Microgastria-Limb Reduction Defect Syndrome
Atrial septal defect, Truncus arteriosus, Hepatomegaly, Microphthalmia, Anophthalmia, Abnormality... ORPHA:2538
Microcephaly 20, Primary, Autosomal Recessive
Optic nerve hypoplasia, Microphthalmia OMIM:617914
American Trypanosomiasis
Cardiomyopathy, Hepatomegaly, Splenomegaly, Myocarditis, Lymphadenopathy ORPHA:3386
Classic Hodgkin Lymphoma
Hepatomegaly, Bone marrow hypocellularity, Lymphadenopathy, Splenomegaly ORPHA:391
Roifman Syndrome
Hepatosplenomegaly, Noncompaction cardiomyopathy, Lymphadenopathy, Eosinophilia ORPHA:353298
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Microphthalmia, Left ventricular hypertrophy OMIM:613153
Adult-Onset Still Disease
Pericarditis, Leukocytosis, Myocarditis, Generalized lymphadenopathy, Hepatomegaly, Hepatitis, Sp... ORPHA:829
Griscelli Syndrome
Abnormality of neutrophils, Thrombocytopenia, Jaundice, Hepatomegaly, Hepatitis, Leukopenia, Sple... ORPHA:381
Craniotelencephalic Dysplasia
Septo-optic dysplasia, Microphthalmia ORPHA:1528
Chediak-Higashi Syndrome
Hemophagocytosis, Abnormal dense granules, Impaired neutrophil bactericidal activity, Neutropenia... OMIM:214500
Craniotelencephalic Dysplasia
Optic nerve hypoplasia, Microphthalmia OMIM:218670
Pierpont Syndrome
Microphthalmia ORPHA:487825
Walker-Warburg Syndrome
Microphthalmia, Anophthalmia ORPHA:899
Cat-Eye Syndrome
Microphthalmia ORPHA:195
Holoprosencephaly
Ventricular septal defect, Abnormality of the spleen, Abnormal pulmonary valve morphology, Microp... ORPHA:2162
Thymoma
Hemolytic anemia, Pericarditis, Abnormal lymphocyte morphology, Abnormality of the peritoneum, Ne... ORPHA:99867
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Thrombocytopenia, Lymphocytosis, Decreased mean platelet volume, Lymphadenopathy OMIM:617718
Pseudomyxoma Peritonei
Abnormality of the peritoneum, Lymphadenopathy ORPHA:26790
Ataxia-Telangiectasia
Defective B cell differentiation, T lymphocytopenia, Decreased proportion of CD4-positive helper ... OMIM:208900
Cerebrooculofacioskeletal Syndrome 1
Microphthalmia OMIM:214150
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Hepatomegaly, Microphthalmia, Hypertrophic cardiomyopathy OMIM:619053
Microphthalmia, Isolated 5
Microphthalmia OMIM:611040
Isolated Optic Nerve Hypoplasia/Aplasia
Optic disc hypoplasia, Aplasia/Hypoplasia of the iris, Optic nerve hypoplasia, Unilateral microph... ORPHA:137902
Pleural Mesothelioma
Hepatomegaly, Lymphadenopathy ORPHA:50251
Proteasome-Associated Autoinflammatory Syndrome 4
Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Splenomegaly OMIM:619183
Eisenmenger Syndrome
Iron deficiency anemia, Hypochromic microcytic anemia, Atrial septal defect, Ventricular septal d... ORPHA:97214
Atrioventricular Septal Defect With Blepharophimosis And Anal And Radial Defects
Atrial septal defect, Ventricular septal defect, Microphthalmia, Atrioventricular canal defect, T... OMIM:600123
Pierpont Syndrome
Microphthalmia OMIM:602342
Warburg Micro Syndrome 1
Microphthalmia OMIM:600118
Frontonasal Dysplasia 1
Tetralogy of Fallot, Microphthalmia OMIM:136760
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Neutropenia, Thrombocytopenia, Hep... OMIM:304790
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Microphthalmia OMIM:251270
Cockayne Syndrome Type 1
Hepatomegaly, Anemia, Anophthalmia ORPHA:90321
Spondylo-Ocular Syndrome
Microphthalmia, Aplasia/Hypoplasia of the lens, Ventricular septal defect ORPHA:85194
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Microphthalmia ORPHA:1473
Omenn Syndrome
Leukocytosis, Abnormal lymphocyte morphology, Lymphadenopathy, Hepatomegaly, Anemia, Splenomegaly... ORPHA:39041
Orotic Aciduria
Hypochromia, Folate-unresponsive megaloblastic anemia, Anisocytosis, Impaired T cell function, Py... OMIM:258900
Autoimmune Lymphoproliferative Syndrome, Type V
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Lymphopenia, Hepatomegaly, Splenomegaly... OMIM:616100
Legionnaires Disease
Endocarditis, Pericarditis, Lymphopenia, Bone marrow hypocellularity, Jaundice, Hepatitis, Pancre... ORPHA:549
Microphthalmia, Syndromic 11
Microphthalmia OMIM:614402
Fanconi Anemia, Complementation Group E
Abnormal heart morphology, Neutropenia, Reticulocytopenia, Pancytopenia, Thrombocytopenia, Microp... OMIM:600901
Cinca Syndrome
Abnormality of neutrophils, Leukocytosis, Abnormal granulocyte morphology, Hepatomegaly, Anemia, ... ORPHA:1451
Mycosis Fungoides
Lymphadenopathy OMIM:254400
Cyclic Neutropenia
Peritonitis, Recurrent tonsillitis, Decreased eosinophil count, Lymphopenia, Thrombocytopenia, Cy... ORPHA:2686
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Microphthalmia ORPHA:48431
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
Aniridia, Tricuspid valve prolapse, Anophthalmia ORPHA:1101
Scrub Typhus
Splenomegaly, Lymphadenopathy, Myocarditis ORPHA:83317
Obesity Due To Congenital Leptin Deficiency
Decreased T cell activation, Decreased proportion of CD4-positive helper T cells ORPHA:66628
Fanconi Anemia, Complementation Group A
Abnormal heart morphology, Neutropenia, Reticulocytopenia, Pancytopenia, Thrombocytopenia, Microp... OMIM:227650
Cat Eye Syndrome
Biliary atresia, Total anomalous pulmonary venous return, Microphthalmia, Abnormal heart morphology OMIM:115470
Microphthalmia, Syndromic 8
Microphthalmia OMIM:601349
Fanconi Anemia, Complementation Group L
Bone marrow hypocellularity, Microphthalmia, Anemia OMIM:614083
Acute Monoblastic/Monocytic Leukemia
Lymphocytosis, Hypochromic anemia, Acute monocytic leukemia, Leukocytosis, Anemia, Cervical lymph... ORPHA:514
Niemann-Pick Disease, Type A
Bone-marrow foam cells, Microcytic anemia, Sea-blue histiocytosis, Hepatomegaly, Prolonged neonat... OMIM:257200
Oculoauricular Syndrome
Macular hypoplasia, Microphakia, Microphthalmia OMIM:612109
Fanconi Anemia, Complementation Group S
Microphthalmia, Anemia OMIM:617883
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Microphthalmia ORPHA:1135
Sézary Syndrome
Hepatomegaly, Abnormal lymphocyte morphology, Lymphadenopathy, Splenomegaly ORPHA:3162
Klatskin Tumor
Extrahepatic cholestasis, Hepatomegaly, Jaundice, Cholangiocarcinoma, Lymphadenopathy ORPHA:99978
Fanconi Anemia, Complementation Group C
Ventricular septal defect, Neutropenia, Reticulocytopenia, Pancytopenia, Thrombocytopenia, Microp... OMIM:227645
Temtamy Syndrome
Microphthalmia ORPHA:1777
Chromosome 17Q12 Duplication Syndrome
Atrial septal defect, Microphthalmia OMIM:614526
Systemic Mastocytosis With Associated Hematologic Neoplasm
Myeloid leukemia, Leukocytosis, Chronic lymphatic leukemia, Normocytic anemia, Thrombocytopenia, ... ORPHA:98849
Boutonneuse Fever
Thrombocytopenia, Leukopenia, Lymphadenopathy, Cervical lymphadenopathy ORPHA:83313
Autoimmune Lymphoproliferative Syndrome
Lymphocytosis, Abnormal proportion of CD4-positive T cells, Decreased specific anti-polysaccharid... ORPHA:3261
Obesity Due To Leptin Receptor Gene Deficiency
Decreased T cell activation, Decreased proportion of CD4-positive helper T cells ORPHA:179494
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
T lymphocytopenia, Decreased proportion of memory B cells, Panhypogammaglobulinemia, Abnormal nat... ORPHA:79124
Hartsfield Syndrome
Microphthalmia ORPHA:2117
X-Linked Dominant Chondrodysplasia Punctata
Microphthalmia ORPHA:35173
Hemifacial Microsomia
Tetralogy of Fallot, Anophthalmia, Microphthalmia, Ventricular septal defect OMIM:164210
Mixed Connective Tissue Disease
Hemolytic anemia, Pericarditis, Hepatomegaly, Leukopenia, Splenomegaly, Mediastinal lymphadenopat... ORPHA:809
Chromosome 1Q41-Q42 Deletion Syndrome
Microphthalmia OMIM:612530
Fanconi Anemia, Complementation Group F
Atrial septal defect, Thrombocytopenia, Microphthalmia, Leukopenia, Anemia, Bone marrow hypocellu... OMIM:603467
Agammaglobulinemia, X-Linked
Enteroviral hepatitis, Cor pulmonale, Lymph node hypoplasia OMIM:300755
Adams-Oliver Syndrome 2
Microphthalmia OMIM:614219
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Optic nerve hypoplasia, Microphthalmia OMIM:615181
Microphthalmia, Isolated, With Corectopia
Microphthalmia OMIM:156900
Q Fever
Endocarditis, Pericarditis, Abnormal heart valve morphology, Cholecystitis, Pericardial effusion,... ORPHA:781
Joubert Syndrome 22
Microphthalmia OMIM:615665
Adams-Oliver Syndrome
Cirrhosis, Abnormal pulmonary valve morphology, Thrombocytopenia, Congenital hepatic fibrosis, Mi... ORPHA:974
Pulmonary Non-Tuberculous Mycobacterial Infection
Pericardial effusion, Lymphadenopathy ORPHA:411703
Hypocomplementemic Urticarial Vasculitis
Abnormal heart valve morphology, Pericardial effusion, Hepatomegaly, Splenomegaly, Lymphadenopathy ORPHA:36412
Meckel Syndrome, Type 4
Bile duct proliferation, Atrial septal defect, Microphthalmia, Ventricular septal defect OMIM:611134
Baraitser-Winter Syndrome 2
Microphthalmia OMIM:614583
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Microphthalmia ORPHA:2547
Mosaic Trisomy 9
Atrial septal defect, Ventricular septal defect, Abnormal heart valve morphology, Endocardial fib... ORPHA:99776
Anterior Segment Dysgenesis 7
Buphthalmos, Microphthalmia OMIM:269400
Norrie Disease
Hypoplasia of the iris, Microphthalmia OMIM:310600
Sandestig-Stefanova Syndrome
Perimembranous ventricular septal defect, Muscular ventricular septal defect, Microphthalmia OMIM:618804
Bare Lymphocyte Syndrome, Type Ii
Cutaneous anergy, Panhypogammaglobulinemia, Neutropenia, Agammaglobulinemia OMIM:209920
Anterior Segment Dysgenesis 5
Hypoplasia of the iris, Rieger anomaly, Hypoplasia of the fovea, Microphthalmia OMIM:604229
Stevenson-Carey Syndrome
Atrial septal defect, Microphthalmia OMIM:611961
Meige Disease
Lymph node hypoplasia, Absence of lymph node germinal center ORPHA:90186
Frontonasal Dysplasia 3
Microphthalmia OMIM:613456
Microphthalmia, Isolated 8
Optic nerve hypoplasia, Microphthalmia OMIM:615113
Histiocytosis-Lymphadenopathy Plus Syndrome
Atrial septal defect, Ventricular septal defect, Hepatomegaly, Pulmonic stenosis, Histiocytosis, ... OMIM:602782
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Microphthalmia OMIM:601794
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Patent foramen ovale, Pulmonic stenosis, Microphthalmia, Lens coloboma OMIM:618914
Kaposi Sarcoma
Abnormality of the spleen, Generalized lymphadenopathy, Abnormality of the liver ORPHA:33276
Familial Hemophagocytic Lymphohistiocytosis
Hemophagocytosis, Neutropenia, Thrombocytopenia, Jaundice, Hepatomegaly, Cholestatic liver diseas... ORPHA:540
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Microphthalmia ORPHA:363741
Rere-Related Neurodevelopmental Syndrome
Ventricular septal defect, Microphthalmia, Abnormal heart morphology ORPHA:494344
Middle Ear Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy ORPHA:100084
Tangier Disease
Orange discolored tonsils, Coronary artery stenosis, Chronic noninfectious lymphadenopathy, Throm... ORPHA:31150
Microphthalmia With Linear Skin Defects Syndrome
Microphthalmia, Tricuspid valve prolapse, Anophthalmia, Dilated cardiomyopathy, Mitral valve prol... ORPHA:2556
Kapur-Toriello Syndrome
Tetralogy of Fallot, Microphthalmia, Ventricular septal defect ORPHA:2328
Proteasome-Associated Autoinflammatory Syndrome 3
Lymphopenia, Thrombocytopenia, Hepatomegaly, Anemia, Splenomegaly, Lymphadenopathy OMIM:617591
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Impaired T cell function, Splenomegaly OMIM:201100
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Leukemia, Atrial septal defect, Microphthalmia, Anophthalmia ORPHA:2526
Vacterl With Hydrocephalus
Microphthalmia, Anophthalmia ORPHA:3412
Osteoporosis-Pseudoglioma Syndrome
Microphthalmia ORPHA:2788
Immunodeficiency, Common Variable, 8, With Autoimmunity
Decreased proportion of class-switched memory B cells, Autoimmune thrombocytopenia, Autoimmune he... OMIM:614700
Baraitser-Winter Syndrome 1
Aortic valve stenosis, Microphthalmia, Bicuspid aortic valve OMIM:243310
Schimke Immuno-Osseous Dysplasia
Abnormal proportion of naive CD4 T cells, Lymphopenia, Decreased proportion of naive CD8 T cells,... ORPHA:1830
Fraser Syndrome 1
Abnormality of the thymus, Anophthalmia, Bilateral microphthalmos, Abnormal heart morphology OMIM:219000
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Microphthalmia, Anophthalmia ORPHA:2250
Acute Promyelocytic Leukemia
Leukocytosis, Neutropenia, Pancytopenia, Thrombocytopenia, Leukopenia, Anemia, Lymphadenopathy ORPHA:520
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Microphthalmia OMIM:614105
Acquired Hypertrichosis Lanuginosa
Lymphadenopathy ORPHA:2221
Ring Chromosome 10 Syndrome
Microphthalmia ORPHA:1438
Squamous Cell Carcinoma Of The Anal Canal
Neoplasm of the liver, Lymphadenopathy ORPHA:424019
Fanconi Anemia, Complementation Group D2
Abnormal heart morphology, Neutropenia, Reticulocytopenia, Pancytopenia, Thrombocytopenia, Microp... OMIM:227646
Mevalonic Aciduria
Fluctuating hepatomegaly, Leukocytosis, Thrombocytopenia, Anemia, Normocytic hypoplastic anemia, ... OMIM:610377
Mirage Syndrome
Lymphopenia, Thrombocytopenia, Anemia, Leukopenia, Hypoplastic spleen OMIM:617053
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Optic nerve hypoplasia, Microphthalmia OMIM:614833
Autosomal Dominant Keratitis
Aniridia, Bilateral microphthalmos, Macular hypoplasia, Hypoplastic iris stroma, Hypoplasia of th... ORPHA:2334
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome
Abnormal cardiac septum morphology, Microphthalmia ORPHA:1352
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hemophagocytosis, Pancytopenia, Thrombocytopenia, Jaundice, Hepatomegaly, Leukopenia, Splenomegal... OMIM:603553
Encephalocraniocutaneous Lipomatosis
Atrial septal defect, Ventricular septal defect, Hypoplasia of the iris, Microphthalmia, Subvalvu... OMIM:613001
Nance-Horan Syndrome
Microphthalmia ORPHA:627
Acute Interstitial Pneumonia
Pericardial effusion, Lymphadenopathy, Reduced hematocrit ORPHA:79126
Microphthalmia, Syndromic 2
Atrial septal defect, Ventricular septal defect, Dextrocardia, Aortic valve stenosis, Double outl... OMIM:300166
Meckel Syndrome, Type 5
Bile duct proliferation, Microphthalmia OMIM:611561
Charge Syndrome
Atrial septal defect, Ventricular septal defect, Lymphopenia, Aplasia/Hypoplasia of the thymus, P... OMIM:214800
Pediatric Systemic Lupus Erythematosus
Microangiopathic hemolytic anemia, Pericardial effusion, Lymphopenia, Thrombocytopenia, Leukopeni... ORPHA:93552
Congenital Muscular Dystrophy With Cerebellar Involvement
Optic nerve hypoplasia, Microphthalmia, Cardiomyopathy ORPHA:370959
Bresek Syndrome
Optic nerve hypoplasia, Microphthalmia ORPHA:85284
Cryptophthalmos, Unilateral Or Bilateral, Isolated
Microphthalmia OMIM:123570
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hemophagocytosis, Thrombocytopenia, Jaundice, Hepatomegaly, Splenomegaly, Leukopenia, Anemia, Lym... OMIM:267700
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome
Lymphadenopathy ORPHA:69126
Kikuchi-Fujimoto Disease
Lymphocytosis, Generalized lymphadenopathy, Neutropenia, Lymphadenopathy, Thrombocytopenia, Hepat... ORPHA:50918
Cerebrooculonasal Syndrome
Anophthalmia OMIM:605627
Lig4 Syndrome
Leukocytosis, Pancytopenia, Hepatomegaly, Acute leukemia, Lymphadenopathy ORPHA:99812
Pearson Syndrome
Exocrine pancreatic insufficiency, Abnormal heart morphology, Reticulocytosis, Hepatic steatosis,... ORPHA:699
Fetal Alcohol Syndrome
Atrial septal defect, Microphthalmia ORPHA:1915
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Lymphadenitis, Impaired oxidative burst, Hepatomegaly, Splenomegaly, Liver abscess, Lymphadenopat... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Lymphadenitis, Impaired oxidative burst, Hepatomegaly, Splenomegaly, Liver abscess, Lymphadenopat... OMIM:233710
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Microphthalmia OMIM:617306
3P25.3 Microdeletion Syndrome
Pulmonic stenosis, Atrial septal defect, Microphthalmia, Ventricular septal defect ORPHA:435638
Thyroid Lymphoma
Lymphadenopathy ORPHA:97285
Ritscher-Schinzel Syndrome 3
Atrioventricular canal defect, Microphthalmia OMIM:619135
Joubert Syndrome 21
Anophthalmia OMIM:615636
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Thrombocytosis, Leukocytosis, Lymphopenia, Portal hypertension, Pancytopenia, Hepatomegaly, Leuko... OMIM:615688
Microphthalmia-Brain Atrophy Syndrome
Bilateral microphthalmos ORPHA:77299
Seckel Syndrome 2
Microphthalmia OMIM:606744
Drug Rash With Eosinophilia And Systemic Symptoms
Lymphocytosis, Lymphadenopathy, Hepatitis, Myocarditis, Eosinophilia ORPHA:139402
Pseudotrisomy 13 Syndrome
Tricuspid atresia, Atrial septal defect, Ventricular septal defect, Complete atrioventricular can... OMIM:264480
Cerebrooculofacioskeletal Syndrome 2
Microphthalmia OMIM:610756
Oculofaciocardiodental Syndrome
Mitral valve prolapse, Abnormal cardiac septum morphology, Microphthalmia ORPHA:2712
Trichothiodystrophy 4, Nonphotosensitive
Microphthalmia, Ventricular septal defect OMIM:234050
Nasopalpebral Lipoma-Coloboma Syndrome
Bilateral microphthalmos, Microphthalmia ORPHA:2399
Monosomy 18P
Microphthalmia ORPHA:1598
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Mental Retardation
Microphthalmia OMIM:152950
Medullary Thyroid Carcinoma
Abnormal liver parenchyma morphology, Lymphadenopathy ORPHA:1332
Heart And Brain Malformation Syndrome
Microphthalmia, Ventricular septal defect OMIM:616920
Vici Syndrome
Cutaneous anergy, Decreased proportion of CD4-positive helper T cells, Decreased circulating IgG2... OMIM:242840
Bartsocas-Papas Syndrome 2
Microphthalmia OMIM:619339
Granulomatous Disease, Chronic, X-Linked
Lymphadenitis, Impaired oxidative burst, Hepatomegaly, Splenomegaly, Liver abscess, Lymphadenopat... OMIM:306400
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Lymphadenitis, Impaired oxidative burst, Hepatomegaly, Splenomegaly, Liver abscess, Lymphadenopat... OMIM:233690
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Atrial septal defect, Microphthalmia ORPHA:2728
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Ventricular septal defect, Microphthalmia, Abnormal heart morphology ORPHA:404440
Exudative Vitreoretinopathy 2, X-Linked
Microphthalmia OMIM:305390
Pelvis-Shoulder Dysplasia
Microphthalmia OMIM:169550
Familial Pancreatic Carcinoma
Peritoneal abscess, Exocrine pancreatic insufficiency, Extrahepatic cholestasis, Neoplasm of the ... ORPHA:1333
14Q22Q23 Microdeletion Syndrome
Optic nerve aplasia, Anophthalmia ORPHA:264200
Lassa Fever
Thrombocytopenia, Leukopenia, Lymphadenopathy ORPHA:99824
Anterior Segment Dysgenesis 2
Microphthalmia, Aniridia, Congenital aphakia, Anterior segment of eye aplasia OMIM:610256
Charge Syndrome
Abnormal aortic valve morphology, Tetralogy of Fallot, Microphthalmia, Anophthalmia, Abnormal car... ORPHA:138
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Microphthalmia ORPHA:231736
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Microphthalmia, Abnormally large globe OMIM:615249
Nasopalpebral Lipoma-Coloboma Syndrome
Microphthalmia OMIM:167730
Sting-Associated Vasculopathy, Infantile-Onset
Thrombocytosis, Lymphopenia, Paratracheal lymphadenopathy, Follicular hyperplasia, Anemia, Leukop... OMIM:615934
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies
Microphthalmia, Abnormal heart morphology OMIM:618571
Joubert Syndrome 14
Microphthalmia OMIM:614424
Common Variable Immunodeficiency
Hemolytic anemia, Autoimmune thrombocytopenia, Lymphopenia, Splenomegaly, Abnormality of the live... ORPHA:1572
Marden-Walker Syndrome
Dextrocardia, Microphthalmia OMIM:248700
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Microphthalmia OMIM:300863
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Patent foramen ovale, Ventricular septal defect, Bilateral microphthalmos, Abnormal heart morphology ORPHA:369891
3Q29 Microduplication Syndrome
Aniridia, Microphthalmia, Ventricular septal defect ORPHA:251038
Autoinflammation, Panniculitis, And Dermatosis Syndrome