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Gene: Kmt2e MGI:1924825

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Gene Summary

Name:
lysine (K)-specific methyltransferase 2E
Synonyms:
1810033J14Rik,  D230038D11Rik,  9530077A04Rik,  Mll5

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
absent pinna reflex Kmt2etm1.2(IMPC)Wtsi HET Early adult 9.77×10-06
increased mean corpuscular hemoglobin Kmt2etm1.2(IMPC)Wtsi HET Early adult 1.26×10-08
increased total body fat amount Kmt2etm1.2(IMPC)Wtsi HET   Early adult 3.16×10-05
increased red blood cell distribution width Kmt2etm1.2(IMPC)Wtsi HET   Early adult 1.82×10-05
increased circulating insulin level Kmt2etm1.2(IMPC)Wtsi HET Early adult 6.03×10-07
increased mean corpuscular hemoglobin concentration Kmt2etm1.2(IMPC)Wtsi HET Early adult 3.01×10-15
decreased lean body mass Kmt2etm1.2(IMPC)Wtsi HET   Early adult 8.71×10-06
increased blood urea nitrogen level Kmt2etm1.2(IMPC)Wtsi HET Early adult 4.77×10-05

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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.

Phenotype associated images not available

Human diseases caused by Kmt2e mutations

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

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

The table below shows human diseases associated to Kmt2e by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
O'Donnell-Luria-Rodan Syndrome
Cryptorchidism, Downslanted palpebral fissures OMIM:618512

The table below shows human diseases predicted to be associated to Kmt2e by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Lymphopenia, Hypoplasia of the thymus OMIM:200900
Cephalin Lipidosis
Abnormality of the spleen OMIM:212800
Spermatogenic Failure, X-Linked, 6
Abnormality of male external genitalia, Male infertility, Recurrent pneumonia, Coiled sperm flage... OMIM:301101
Reticular Dysgenesis
Leukopenia, Congenital agranulocytosis, Lymphopenia, Hypoplasia of the thymus OMIM:267500
Spermatogenic Failure 72
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... OMIM:619867
Spermatogenic Failure 34
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... OMIM:618153
Spermatogenic Failure, X-Linked, 5
Male infertility, Irregularly shaped sperm tail, Coiled sperm flagella, Reduced sperm motility, A... OMIM:301099
Hemoglobin D Disease
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... ORPHA:90039
Hemoglobin E-Beta-Thalassemia Syndrome
Increased circulating ferritin concentration, Abnormal hemoglobin, Anemia ORPHA:231249
Spermatogenic Failure 33
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:618152
Spermatogenic Failure 37
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:618429
Spermatogenic Failure 18
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:617576
Spermatogenic Failure 46
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:619095
Spermatogenic Failure 27
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:617965
Spermatogenic Failure 65
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619712
Spermatogenic Failure 43
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:618751
Spermatogenic Failure 19
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:617592
Spermatogenic Failure 82
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced pro... OMIM:620353
Spermatogenic Failure 49
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:619144
Spermatogenic Failure 45
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:619094
Spermatogenic Failure 56
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619515
Spermatogenic Failure, X-Linked, 3
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Coiled sperm flagella, Absent s... OMIM:301059
Spermatogenic Failure 83
Male infertility, Altered location of the longitudinal column in the fibrous sheath, Reduced prog... OMIM:620354
Spermatogenic Failure 50
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Decreased testicular size OMIM:619145
Spermatogenic Failure 57
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest, Decreased testi... OMIM:619528
Spermatogenic Failure 73
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619878
Spermatogenic Failure 59
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619645
Spermatogenic Failure 60
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619646
Spermatogenic Failure 74
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619937
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Increased circulating ferritin co... ORPHA:766
Immunodeficiency 105
Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, Hepatosplenomegaly, Dea... OMIM:619924
Spermatogenic Failure 35
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:618341
Spermatogenic Failure 42
Male infertility, Microcephalic sperm head, Coiled sperm flagella, Tapered sperm head, Absent spe... OMIM:618745
Spermatogenic Failure 54
Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit... OMIM:619379
Spermatogenic Failure 80
Male infertility, Oligozoospermia, Coiled sperm flagella, Absent sperm flagella, Short sperm flag... OMIM:620222
Spermatogenic Failure 40
Male infertility, Oligozoospermia, Coiled sperm flagella, Immotile sperm, Absent sperm flagella, ... OMIM:618664
Spermatogenic Failure 76
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Absent sperm flagella, Short sp... OMIM:620084
Spermatogenic Failure 58
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Immotile sperm, Short sperm fla... OMIM:619585
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
T lymphocytopenia ORPHA:169095
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Male infertility, Abnormal sperm morphology, Immotile sperm OMIM:608653
Spermatogenic Failure 39
Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel... OMIM:618643
Immunodeficiency 42
Splenomegaly, Hypoplasia of the thymus, Hepatomegaly OMIM:616622
Spermatogenic Failure 11
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia OMIM:615081
Spermatogenic Failure 10
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia OMIM:614822
Male Infertility Due To Acephalic Spermatozoa
Male infertility, Oligozoospermia, Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Re... ORPHA:529970
Spermatogenic Failure 51
Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Macrozoospermia, Absent sp... OMIM:619177
Deafness-Infertility Syndrome
Male infertility, Abnormal sperm tail morphology, Abnormal sperm head morphology, Abnormal sperma... OMIM:611102
Spermatogenic Failure 20
Male infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:617593
Spermatogenic Failure 47
Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella OMIM:619102
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Hepatomegaly, Failure to thrive, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia... OMIM:602450
Spermatogenic Failure 32
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype OMIM:618115
Spermatogenic Failure 71
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype OMIM:619831
Thrombocytopenia 2
Leukocytosis, Thrombocytopenia OMIM:188000
Congenital Glucokinase-Related Hyperinsulinism
Fasting hyperinsulinemia, Abnormal circulating C-peptide concentration, Hand tremor, Recurrent hy... ORPHA:79299
Spermatogenic Failure 29
Male infertility, Non-obstructive azoospermia, Immotile sperm OMIM:618091
Spermatogenic Failure 79
Male infertility, Reduced sperm motility, Coiled sperm flagella, Oligozoospermia OMIM:620196
Spermatogenic Failure 41
Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella OMIM:618670
Immunodeficiency 104
Hepatomegaly, Splenomegaly, Lymphadenopathy, T lymphocytopenia, Failure to thrive secondary to re... OMIM:608971
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion OMIM:183350
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Oval macrocytosis, Anisocytosis, Poikilocytosis, Anemia of inadequate production OMIM:603529
Hyperinsulinemic Hypoglycemia, Familial, 5
Elevated circulating insulin:C-peptide ratio, Fasting hyperinsulinemia, Hypoglycemic seizures, Hy... OMIM:609968
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Immunodeficiency 15B
Monocytosis, Reduced natural killer cell count, Death in infancy OMIM:615592
Immunodeficiency 76
Splenomegaly, Lymphadenopathy, T lymphocytopenia, B lymphocytopenia, Death in childhood, Lymphopenia OMIM:619164
Agammaglobulinemia 7, Autosomal Recessive
Reduced natural killer cell count, Neutropenia OMIM:615214
Spermatogenic Failure 36
Male infertility, Abnormal sperm morphology OMIM:618420
Spermatogenic Failure 52
Male infertility, Azoospermia OMIM:619202
Spermatogenic Failure 4
Male infertility, Azoospermia OMIM:270960
Spermatogenic Failure, Y-Linked, 2
Male infertility, Azoospermia OMIM:415000
Spermatogenic Failure 23
Male infertility, Azoospermia OMIM:617707
Spermatogenic Failure 62
Male infertility, Non-obstructive azoospermia OMIM:619673
Spermatogenic Failure 61
Male infertility, Non-obstructive azoospermia OMIM:619672
Immunodeficiency 21
Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, Lymphopenia, Re... OMIM:614172
Spermatogenic Failure 21
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617644
Spermatogenic Failure 16
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617187
Spermatogenic Failure 44
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:619044
Iron-Refractory Iron Deficiency Anemia
Elevated circulating hepcidin concentration, Poikilocytosis, Hypochromic microcytic anemia, Aniso... OMIM:206200
Immune Thrombocytopenia
Thrombocytopenia OMIM:188030
Spermatogenic Failure 70
Male infertility, Azoospermia, Reduced sperm motility, Oligozoospermia OMIM:619828
Spermatogenic Failure 24
Coiled sperm flagella, Tapered sperm head, Microcephalic sperm head, Short sperm flagella, Reduce... OMIM:617959
Spermatogenic Failure 63
Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia OMIM:619689
Deafness-Infertility Syndrome
Male infertility, Azoospermia ORPHA:94064
Spermatogenic Failure 78
Male infertility, Microcephalic sperm head, Tapered sperm head OMIM:620170
Asplenia, Isolated Congenital
Asplenia, Thrombocytosis, Howell-Jolly bodies OMIM:271400
Spermatogenic Failure 7
Male infertility, Reduced sperm motility, Immotile sperm, Oligozoospermia OMIM:612997
Severe Combined Immunodeficiency, X-Linked
Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, T lymphocytopenia, Hypo... OMIM:300400
Spermatogenic Failure 64
Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti... OMIM:619696
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, B lymphocytopenia,... OMIM:619313
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Failure to thrive in infancy, Small for gestational age, Decreased proportion of CD8-positive T c... OMIM:617241
Spermatogenic Failure 30
Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest OMIM:618110
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Anisocytosis, Conjugated hyperbilirubinemia, Increased circulating ferritin concentration, Spleno... OMIM:616860
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
T lymphocytopenia OMIM:242870
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropen... OMIM:615285
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemia, Hyperinsulinemia, Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperin... OMIM:610021
Spermatogenic Failure, X-Linked, 7
Male infertility, Multiflagellar spermatozoa, Globozoospermia, Excess residual spermatozoal cytop... OMIM:301106
Specific Granule Deficiency 1
Impaired neutrophil bactericidal activity, Absent neutrophil specific granules, Hyposegmentation ... OMIM:245480
Combined Oxidative Phosphorylation Deficiency 34
Pancytopenia, Hypergonadotropic hypogonadism, Hypoglycemia, Elevated circulating thyroid-stimulat... OMIM:617872
Ciliary Dyskinesia, Primary, 50
Male infertility, Reduced progressive sperm motility, Absent inner dynein arms, Coiled sperm flag... OMIM:620356
Partial Chromosome Y Deletion
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... ORPHA:1646
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Splenomegaly, Lymphadenopathy, Decreased proportion of class-switched memory B cells, T lymphocyt... OMIM:615513
Isochromosomy Yp
Male infertility, Azoospermia, Ambiguous genitalia, Decreased testicular size ORPHA:98797
Omenn Syndrome
Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Lymphadenop... OMIM:603554
Immunodeficiency 19
T lymphocytopenia, Failure to thrive, Abnormal B cell morphology, Abnormal natural killer cell mo... OMIM:615617
Hyperinsulinism Due To Insr Deficiency
Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Abnormal circulating C-peptide concen... ORPHA:263458
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Anisocytosis, Anemia of inadequate production, Macrothrombocytopenia, Poikilocytosis, Hypochromic... ORPHA:67044
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Immunodeficiency 52
Decreased proportion of CD4-positive T cells, Death in infancy, Failure to thrive, Autoimmune thr... OMIM:617514
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Lymphopenia, Failure to thrive, Decreased proportion of naive T cells, Hepatomegaly, Jaundice, Ly... ORPHA:276
Hyperinsulinemic Hypoglycemia, Familial, 6
Abnormality of the pancreatic islet cells, Hypoglycemic seizures, Asymptomatic hyperammonemia, Hy... OMIM:606762
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Spermatogenic Failure 81
Male infertility, Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia OMIM:620277
Spermatogenic Failure 48
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligozoospermia OMIM:619108
Immunodeficiency 24
Lymphopenia, Decreased proportion of memory B cells, Decreased CD4:CD8 ratio, Reduced proportion ... OMIM:615897
Anemia, Congenital Dyserythropoietic, Type Iv
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... OMIM:613673
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal hemoglobin, Splenomegaly, Thrombocytopenia, Abnormal platelet function, Anemia ORPHA:231393
Anemia, Congenital Dyserythropoietic, Type Ib
Reticulocytosis, Anisocytosis, Anemia of inadequate production, Splenomegaly, Poikilocytosis, Ery... OMIM:615631
Hereditary Progressive Mucinous Histiocytosis
Mucinous histiocytosis, Lymphadenopathy ORPHA:158025
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Recurrent respiratory infections, Recurrent bacterial infections, Neutropenia, Recurrent otitis m... OMIM:616022
Purine Nucleoside Phosphorylase Deficiency
Autoimmune hemolytic anemia, Failure to thrive, Pure red cell aplasia, Autoimmune thrombocytopeni... OMIM:613179
Immunodeficiency 84
Perianal abscess, Splenomegaly, B lymphocytopenia OMIM:619437
Spermatogenic Failure 5
Male infertility, Multiflagellar spermatozoa, Macrozoospermia OMIM:243060
Immunodeficiency 102
Autoimmune thrombocytopenia, Neutropenia in presence of anti-neutropil antibodies, Leukopenia, De... OMIM:301082
Cernunnos-Xlf Deficiency
Anemia, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Thrombocytopenia ORPHA:169079
Spermatogenic Failure 25
Male infertility, Non-obstructive azoospermia, Decreased testicular size, Cryptozoospermia OMIM:617960
Spermatogenic Failure 3
Male infertility, Reduced sperm motility OMIM:606766
Hyperinsulinemic Hypoglycemia, Familial, 3
Diabetes mellitus, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:602485
Spermatogenic Failure, Y-Linked, 1
Male infertility, Reduced sperm motility OMIM:400042
Spermatogenic Failure 55
Male infertility, Reduced sperm motility OMIM:619380
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Non-obstructive azoospermia, Abnormal sperm tail morphology, Increased circulating gonadotropin l... ORPHA:399808
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Cervical lymphadenopathy, B lymphocytopenia, Failure to thrive in infancy, Abnormally low T cell ... OMIM:618987
Neutropenia, Lethal Congenital, With Eosinophilia
Neonatal death, Eosinophilia, Neutropenia OMIM:257100
Hyperinsulinemic Hypoglycemia, Familial, 1
Large for gestational age, Pancreatic islet-cell hyperplasia, Hypoglycemic seizures, Hyperinsulin... OMIM:256450
Lymphoproliferative Syndrome 3
Reduced natural killer cell count, Hepatosplenomegaly OMIM:618261
Myelolymphatic Insufficiency
Leukopenia, Hyposegmentation of neutrophil nuclei, Recurrent bacterial infections, Recurrent vira... OMIM:310350
Obesity Due To Melanocortin 4 Receptor Deficiency
Hypertriglyceridemia, Increased adipose tissue, Hyperinsulinemia, Obesity, Type II diabetes melli... ORPHA:71529
Gray Platelet Syndrome
Splenomegaly, Abnormality of thrombocytes, Thrombocytopenia, Abnormality of the menstrual cycle ORPHA:721
Bleeding Disorder, Platelet-Type, 9
Thrombocytopenia OMIM:614200
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Amegakaryocytic thrombocytopenia ORPHA:71289
Whim Syndrome 1
Recurrent upper respiratory tract infections, Abnormal morphology of female internal genitalia, B... OMIM:193670
Mirage Syndrome
Hypergonadotropic hypogonadism, Hypospadias, Adrenal hypoplasia, Shawl scrotum, Cryptorchidism, A... OMIM:617053
Hemoglobin H Disease
Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:613978
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hepatomegaly, Splenomegaly, Jaundice, Lymphadenopathy, Anemia, Hemophagocytosis, Neutropenia, Thr... OMIM:603552
Diamond-Blackfan Anemia 18
Erythroid hypoplasia, Steroid-responsive anemia, Neutropenia OMIM:618310
Beta-Thalassemia, Dominant Inclusion Body Type
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Erythrocyte inclu... OMIM:603902
Immunodeficiency 54
Short stature, Postnatal growth retardation, Splenomegaly, Intrauterine growth retardation, Reduc... OMIM:609981
Spermatogenic Failure 22
Male infertility, Non-obstructive azoospermia, Cryptozoospermia OMIM:617706
Spermatogenic Failure 31
Male infertility, Acephalic spermatozoa OMIM:618112
Spermatogenic Failure 53
Male infertility, Tapered sperm head OMIM:619258
Spermatogenic Failure 26
Male infertility, Acephalic spermatozoa OMIM:617961
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Lymphopenia, Absence of lymph node germinal center, T lymphocytopenia, B lymphocytopenia, Failure... ORPHA:277
Immunodeficiency 20
Reduced natural killer cell count OMIM:615707
Beemer Lethal Malformation Syndrome
Ambiguous genitalia, Thrombocytopenia OMIM:209970
Immunodeficiency 32B
Recurrent respiratory infections, Neutrophilia, Sinusitis, Eosinophilia, Pneumonia, Thrombocytope... OMIM:226990
Erythroleukemia, Familial, Susceptibility To
Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro... OMIM:133180
Eosinophilia, Familial
Anemia, Leukocytosis, Eosinophilia, Thrombocytopenia OMIM:131400
Acute Myelomonocytic Leukemia
Eosinophilia, Leukocytosis, Weight loss, Anemia, Thrombocytopenia ORPHA:517
Niemann-Pick Disease, Type B
Hepatomegaly, Bone-marrow foam cells, Thrombocytopenia, Splenomegaly, Sea-blue histiocytosis, Anemia OMIM:607616
Hyperinsulinemic Hypoglycemia, Familial, 2
Large for gestational age, Hypoglycemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypo... OMIM:601820
Bone Marrow Failure Syndrome 2
Leukopenia, Thrombocytopenia, Bone marrow hypocellularity, Anemia OMIM:615715
Aicardi-Goutieres Syndrome 3
Death in childhood, Thrombocytopenia, Hepatosplenomegaly OMIM:610329
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Acute myeloid leukemia, Macrocytic anemia, Anisocytosis, Abnormal erythrocyte morphology, Erythro... ORPHA:86841
Plin1-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Hypertriglycer... ORPHA:280356
Isochromosomy Yq
Male infertility, Gonadal tissue inappropriate for external genitalia or chromosomal sex, Varicoc... ORPHA:98798
Spermatogenic Failure 38
Male infertility, Abnormal axonemal organization of respiratory motile cilia, Oligozoospermia, Co... OMIM:618433
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatit... ORPHA:444463
Immunodeficiency 51
Recurrent respiratory infections, Recurrent skin infections, Pneumonia, Eczema, Pustule, Recurren... OMIM:613953
Sea-Blue Histiocyte Disease
Splenomegaly, Thrombocytopenia, Cirrhosis, Sea-blue histiocytosis OMIM:269600
Mu-Heavy Chain Disease
Hepatomegaly, Abnormal B cell count, Splenomegaly, Lymphadenopathy, Weight loss, Anemia ORPHA:100024
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231242
Delta-Beta-Thalassemia
Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231237
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
T lymphocytopenia, Abnormally low T cell receptor excision circle level OMIM:618806
Congenital Amegakaryocytic Thrombocytopenia
Thrombocytopenia, Abnormal hemoglobin, Anemia ORPHA:3319
Spermatogenic Failure 17
Male infertility OMIM:617214
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2
Failure to thrive, Hypervalinemia, Hyperammonemia, Hyperisoleucinemia, Hyperleucinemia, Increased... OMIM:620085
Acetophenetidin Sensitivity
Hemolytic anemia, Methemoglobinemia OMIM:200300
Hemoglobin E Disease
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... ORPHA:2133
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
T lymphocytopenia, Decreased helper T cell proportion OMIM:601705
Anemia, Congenital Dyserythropoietic, Type Ia
Hemolytic anemia, Reticulocytosis, Small for gestational age, Anisocytosis, Anemia of inadequate ... OMIM:224120
Pontocerebellar Hypoplasia, Type 15
Thrombocytopenia, Chronic neutropenia, Anemia, Death in infancy OMIM:619302
Combined Cellular And Humoral Immune Defects With Granulomas
T lymphocytopenia, B lymphocytopenia OMIM:233650
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Hepatomegaly, Anemia of inadequate produ... ORPHA:75564
Wiskott-Aldrich Syndrome
Abnormal eosinophil morphology, Sinusitis, Microcytic anemia, Sepsis, Inflammation of the large i... ORPHA:906
Immunodeficiency 53
Impaired lymphocyte transformation with phytohemagglutinin, Neutrophilia OMIM:617585
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... ORPHA:3203
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Immunodeficiency 85 And Autoimmunity
Growth delay, T lymphocytopenia, Decreased proportion of CD4-positive helper T cells, Lymphopenia... OMIM:619510
Spermatogenic Failure 6
Male infertility, Decreased acrosin in sperm head, Globozoospermia OMIM:102530
Folate Malabsorption, Hereditary
Folate-responsive megaloblastic anemia, Leukopenia, Neutropenia, Failure to thrive, Thrombocytopenia OMIM:229050
Hyperinsulinemic Hypoglycemia, Familial, 8
Hypoglycemia, Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, H... OMIM:620211
Immunodeficiency 97 With Autoinflammation
Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cells, Eosinophilia, ... OMIM:619802
Immunodeficiency 103, Susceptibility To Fungal Infections
Abnormal B cell count, Hypereosinophilia, Abnormal proportion of CD8-positive T cells, Abnormal n... OMIM:212050
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia ORPHA:231401
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Thrombocytopenia OMIM:166990
Autoinflammation With Infantile Enterocolitis
Pancytopenia, Short stature, Splenomegaly, Anemia, Reduced natural killer cell count, Thrombocyto... OMIM:616050
Pontocerebellar Hypoplasia, Type 14
Death in infancy, Chronic neutropenia, Thrombocytopenia OMIM:619301
Preeclampsia/Eclampsia 1
Thrombocytopenia OMIM:189800
Hyperinsulinism Due To Hnf1A Deficiency
Small for gestational age, Ketotic hypoglycemia, Maternal diabetes, Reactive hypoglycemia, Maturi... ORPHA:324575
Lipodystrophy, Familial Partial, Type 3
Loss of subcutaneous adipose tissue in limbs, Decreased HDL cholesterol concentration, Reduced su... OMIM:604367
Bleeding Disorder, Platelet-Type, 19
Menorrhagia, Thrombocytopenia, Macrothrombocytopenia, Anemia OMIM:616176
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Splenomegaly, Anemia ORPHA:46532
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abscess, Intermittent thrombocytopenia, Abnormal CD4:CD8 ratio, Splenomegaly, Lymphadenopathy, B ... OMIM:150550
Bilateral Striopallidodentate Calcinosis
Hepatomegaly, Abnormality of the liver, Thrombocytopenia ORPHA:1980
Immunodeficiency 57 With Autoinflammation
Perianal abscess, T lymphocytopenia, Reduced natural killer cell count, B lymphocytopenia OMIM:618108
Refractory Anemia
Normocytic anemia, Macrocytic anemia, Anemia of inadequate production, Erythroid hypoplasia, Norm... ORPHA:98826
Neutrophilia, Hereditary
Splenomegaly, Neutrophilia OMIM:162830
Forsythe-Wakeling Syndrome
Thrombocytopenia, Decreased body weight OMIM:613606
Hyperinsulinemic Hypoglycemia, Familial, 4
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:609975
Spermatogenic Failure 1
Male infertility, Cryptozoospermia, Oligozoospermia OMIM:258150
Granulomatous disease with defect in neutrophil chemotaxis
Impaired neutrophil killing of staphylococci, Recurrent staphylococcal infections OMIM:233670
Hyperinsulinism-Hyperammonemia Syndrome
Hyperinsulinemic hypoglycemia, Fasting hyperinsulinemia, Reactive hypoglycemia, Asymptomatic hype... ORPHA:35878
Leishmaniasis
Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Weight loss, Anemia, Le... ORPHA:507
Agammaglobulinemia 3, Autosomal Recessive
Abnormal T cell morphology, Agammaglobulinemia, Recurrent bacterial infections, Absent isohemaggl... OMIM:613501
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hepatomegaly, Hypersplenism, Splenomegaly, Anemia, Thrombocytopenia OMIM:610539
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Acute myeloid leukemia, Pancytopenia, Thrombocytopenia, Splenomegaly, Hepatosplenomegaly, Acute l... ORPHA:158057
Amegakaryocytic Thrombocytopenia, Congenital, 1
Amegakaryocytic thrombocytopenia, Pancytopenia, Thrombocytopenia OMIM:604498
Ciliary Dyskinesia, Primary, 41
Bronchiectasis, Infertility, Recurrent sinusitis, Immotile sperm, Recurrent otitis media OMIM:618449
Fanconi Anemia, Complementation Group G
Thrombocytopenia, Leukemia, Anemia, Neutropenia OMIM:614082
Congenital Disorder Of Glycosylation, Type Iic
Neutrophilia, Pneumonia, Reduction of neutrophil motility, Recurrent otitis media, Periodontitis,... OMIM:266265
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Splenomegaly, Thrombocytopenia, Hepatosplenomegaly, Lymphadenopathy, Hemophagocytosis, Anemia OMIM:613101
Aicardi-Goutieres Syndrome 6
Splenomegaly, Hemolytic anemia, Thrombocytopenia, Hepatomegaly OMIM:615010
Immunodeficiency 109 With Lymphoproliferation
Splenomegaly, Pancytopenia, Generalized lymphadenopathy, Absent circulating B cells OMIM:620282
Amed Syndrome, Digenic
Acute myeloid leukemia, Adrenal hypoplasia, Anemia, Leukopenia, Hypoplasia of the uterus, Bone ma... OMIM:619151
Insulin Autoimmune Syndrome
Nonketotic hypoglycemia, Reactive hypoglycemia, Insulin-resistant diabetes mellitus, Insulin resi... ORPHA:411593
Persistent Mullerian Duct Syndrome, Types I And Ii
Male infertility, Bilateral cryptorchidism, Inguinal hernia OMIM:261550
Immunodeficiency 75 With Lymphoproliferation
Decreased proportion of class-switched memory B cells, Follicular hyperplasia, Lymphadenopathy, H... OMIM:619126
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Recurrent bacterial infections, Recurrent streptococcus pneumoniae infections, Recurrent staphylo... ORPHA:70592
Spermatogenic Failure 9
Male infertility, Globozoospermia OMIM:613958
Spermatogenic Failure 67
Male infertility, Globozoospermia OMIM:619803
Spermatogenic Failure 68
Male infertility, Globozoospermia OMIM:619805
Spermatogenic Failure 69
Male infertility, Globozoospermia OMIM:619826
Spermatogenic Failure 66
Male infertility, Globozoospermia OMIM:619799
Obesity Due To Prohormone Convertase I Deficiency
Decreased response to growth hormone stimulation test, Increased adipose tissue, Gonadotropin def... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Decreased response to growth hormone stimulation test, Increased adipose tissue, Gonadotropin def... ORPHA:71526
Congenital Dyserythropoietic Anemia Type Iii
Anisocytosis, Abnormal erythrocyte morphology, Increased serum iron, Increased mean corpuscular v... ORPHA:98870
Mannose-Binding Lectin Deficiency
Recurrent herpes, Failure to thrive, Recurrent skin infections, Disseminated cryptosporidium infe... OMIM:614372
Neutropenia-Monocytopenia-Deafness Syndrome
Abnormal macrophage morphology, Abnormality of neutrophils ORPHA:2690
Stormorken Syndrome
Howell-Jolly bodies, Asplenia, Anemia, Hypoplastic spleen, Thrombocytopenia OMIM:185070
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
T lymphocytopenia DECIPHER:16
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Reactive hypoglycemia, Tremor, Hyperinsulinemia, Increased body weight, Pancreatic islet-cell hyp... ORPHA:276608
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Mediasti... OMIM:300853
Immunodeficiency 15A
Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells... OMIM:618204
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
T lymphocytopenia, Failure to thrive, B lymphocytopenia, Failure to thrive secondary to recurrent... OMIM:601457
Sea-Blue Histiocytosis
Splenomegaly, Blepharitis, Thrombocytopenia, Sea-blue histiocytosis ORPHA:158029
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia
Menorrhagia, Macrothrombocytopenia, Impaired platelet aggregation, Thrombocytopenia OMIM:124900
Poikiloderma With Neutropenia
Skin rash, Sparse eyebrow, Splenomegaly, Recurrent bronchopulmonary infections, Recurrent pneumon... OMIM:604173
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant
Macrothrombocytopenia OMIM:619840
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Hyponatremia, Pancytopenia, Diabetes mellitus, Hypomagnesemia, Thrombocytopenia, Leukopenia, Hype... OMIM:613845
Immunodeficiency 64 With Lymphoproliferation
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... OMIM:618534
Polycythemia Vera
Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato... OMIM:263300
Neutrophil Immunodeficiency Syndrome
Leukocytosis, Abnormality of neutrophil physiology ORPHA:183707
Isolated Agammaglobulinemia
Recurrent cutaneous abscess formation, Abnormality of the tonsils, Abnormality of neutrophils, Th... ORPHA:229717
Agammaglobulinemia 8B, Autosomal Recessive
Pancytopenia, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, B Acu... OMIM:619824
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... ORPHA:251380
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Bone marrow hypo... OMIM:619041
Systemic Lupus Erythematosus 17
Leukopenia, Lymphopenia, Thrombocytopenia, Autoimmune thrombocytopenia OMIM:301080
Lymphoproliferative Syndrome 1
Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegal... OMIM:613011
Agammaglobulinemia, X-Linked
Hepatocellular carcinoma, Enteroviral hepatitis, Epididymitis, T lymphocytopenia, Lymph node hypo... OMIM:300755
Immunodeficiency 86
Impaired oxidative burst, Decreased circulating IgG level, Increased circulating IgM level, BCGitis OMIM:619549
Thrombocytopenia 7
Reduced platelet alpha granules, Impaired ristocetin-induced platelet aggregation, Impaired ADP-i... OMIM:619130
Wiskott-Aldrich Syndrome 2
Decreased proportion of CD8-positive T cells, Thrombocytopenia OMIM:614493
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Failure to thrive, Eosinophilia, Autoimmune thrombocytopenia, Decreased proportion of CD8-positiv... ORPHA:169154
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Unconjugated hyperbilirubinemia, Poiki... OMIM:300908
Ring Chromosome Y Syndrome
Bifid scrotum, Male infertility, Ambiguous genitalia, Streak ovary, Hypospadias, Unilateral crypt... ORPHA:261529
Osteopetrosis, Autosomal Recessive 8
Hepatomegaly, Splenomegaly, Anemia, Failure to thrive, Thrombocytopenia OMIM:615085
Dyskeratosis Congenita
Neoplasm of the pancreas, Recurrent respiratory infections, Abnormal eyebrow morphology, Abnormal... ORPHA:1775
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Impaired lymphocyte transformation with phytohemagglutinin, Death in infancy, Autoimmune hemolyti... OMIM:243150
Reticuloendotheliosis, X-Linked
Jaundice, Lymphadenopathy, Anemia, Hepatosplenomegaly OMIM:312500
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Hepatomegaly, Failure to thrive, Intermittent thrombocytopenia, Perianal abscess, Erythroid hypop... OMIM:612541
Laterality Defects, Autosomal Dominant
Asplenia OMIM:601086
Immunodeficiency By Defective Expression Of Mhc Class Ii
Recurrent herpes, Sinusitis, Abnormal CD4:CD8 ratio, Recurrent viral infections, Acute otitis med... ORPHA:572
Immunodeficiency, Common Variable, 3
Recurrent respiratory infections, Decreased proportion of class-switched memory B cells, Decrease... OMIM:613493
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Leukocyte inclusion bodies, Giant platelets, Macrothrombocytopenia, Neutrophil inclusion bodies, ... OMIM:155100
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Pancytopenia, Generalized lymphadenopathy, Impaired neutrophil chemotaxis, Lymphadenitis, Neutrop... OMIM:618986
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... ORPHA:231154
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Decreased proportion of CD4+CD25+ regulatory T cells, Follicular hyperplasia, Autoimmune thromboc... OMIM:619846
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Macrocytic anemia, Anisocytosis, Elliptocytosis, Poikilocytosis, Neutropenia, Abnormal reticulocy... OMIM:300835
Aicardi-Goutieres Syndrome 4
Hepatomegaly, Pancytopenia, Splenomegaly, Hepatosplenomegaly, Death in childhood, Thrombocytopenia OMIM:610333
Congenital Toxoplasmosis
Hepatomegaly, Failure to thrive in infancy, Jaundice, Lymphadenopathy, Anemia, Thrombocytopenia ORPHA:858
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Maternal diabetes, Large for gestational age, Hyperinsulinemia, Hypoglycemic seizures, Hypoketoti... ORPHA:276580
Ataxia-Pancytopenia Syndrome
Pancytopenia, Acute myelomonocytic leukemia, Anemia, Neutropenia, Hypoplastic anemia, Thrombocyto... OMIM:159550
Immunodeficiency 13
Lymphopenia, T lymphocytopenia, B lymphocytopenia, Decreased proportion of CD4-positive helper T ... OMIM:615518
Immunodeficiency 50
Lymphopenia, Neutropenia OMIM:300988
Atypical Hemolytic Uremic Syndrome
Microangiopathic hemolytic anemia, Thrombocytopenia ORPHA:2134
Autoimmune Lymphoproliferative Syndrome, Type Iia
Hepatomegaly, Autoimmune hemolytic anemia, Eosinophilia, Chronic noninfectious lymphadenopathy, A... OMIM:603909
Immunodeficiency 98 With Autoinflammation, X-Linked
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Hemo... OMIM:301078
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Recurrent bacter... OMIM:202700
Proteasome-Associated Autoinflammatory Syndrome 2
Increased CD4:CD8 ratio, Lymphadenopathy, B lymphocytopenia, Failure to thrive, Decreased proport... OMIM:618048
Transcobalamin Deficiency
Pancytopenia, Lymphopenia, Thrombocytopenia, Neutropenia ORPHA:859
Babesiosis
Hemolytic anemia, Hepatomegaly, Splenomegaly, Jaundice, Leukopenia, Thrombocytopenia ORPHA:108
Immunodeficiency 62
Increased proportion of transitional B cells, Decreased proportion of memory B cells, B lymphocyt... OMIM:618459
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Elevated circulating thyroid-stimulating hormone concentration, Abnormal circulating insulin conc... ORPHA:171706
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Large for gestational age, Hyperinsulinemia, Hypoglycemic seizures, Decreased circulating free fa... ORPHA:276575
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Recurrent urinary tract infections, Enteroviral dermatomyositis syndrome, Recurrent enteroviral i... OMIM:307200
Activated Pi3K-Delta Syndrome
Hepatomegaly, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy, B lymphocytopenia, Failure to... ORPHA:397596
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Hemolytic anemia, Lymphopenia, Thrombocytopenia, Genital ulcers OMIM:616744
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Hepatomegaly, Splenomegaly, Anemia, Neutropenia, Failure to thrive, Pancreatitis, Thrombocytopenia ORPHA:79312
Insulinomatosis And Diabetes Mellitus
Impaired glucose tolerance, Insulinoma, Multiple pancreatic beta-cell adenomas, Type II diabetes ... OMIM:147630
Short Fifth Metacarpals-Insulin Resistance Syndrome
Splenomegaly, Spherocytosis, Hyperinsulinemia ORPHA:66518
Neutropenia, Severe Congenital, 7, Autosomal Recessive
Neutropenia OMIM:617014
Phosphoglycerate Dehydrogenase Deficiency
Decreased testicular size, Thrombocytopenia, Megaloblastic anemia OMIM:601815
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Short stature, Neutropenia ORPHA:90023
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Decreased proportion of CD4-positive helper T cells, Reduced natural killer cell count, Eosinophi... OMIM:243700
Bone Marrow Failure Syndrome 4
Leukopenia, Thrombocytopenia, Bone marrow hypocellularity, Anemia OMIM:618116
Malaria
Anemia, Thrombocytopenia ORPHA:673
Immunodeficiency 55
Absent natural killer cells, Short stature, Postnatal growth retardation, Neutropenia, Intrauteri... OMIM:617827
Primary Myelofibrosis
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Cachexia, Portal hypertension, Thromboc... ORPHA:824
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Hyperlipidemia, Hyperinsulinemia, Obesity, Hyperglycemia ORPHA:329249
Immunodeficiency 46
Failure to thrive, Neutropenia, Anemia, Intermittent thrombocytopenia OMIM:616740
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas... OMIM:612924
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Hypospadias, Sparse eyelashes, Supernumerary nipple, Absent eyelashes, Lacrimal duct atresia, Ank... OMIM:106260
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Gaucher Disease, Type Iii
Hepatomegaly, Pancytopenia, Splenomegaly, Decreased body weight, Thrombocytopenia OMIM:231000
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas... OMIM:612926
Alpha-Thalassemia Myelodysplasia Syndrome
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia OMIM:300448
Agammaglobulinemia 6, Autosomal Recessive
Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total ... OMIM:612692
Lissencephaly Syndrome, Norman-Roberts Type
Hypoplastic spleen ORPHA:89844
Stuve-Wiedemann Syndrome 2
Neonatal death, Stillbirth, Thrombocytopenia, Death in adolescence OMIM:619751
Fetal Gaucher Disease
Death in infancy, Pancytopenia, Hepatomegaly, Splenomegaly, Abnormality of the spleen, Stillbirth... ORPHA:85212
Agammaglobulinemia 8A, Autosomal Dominant
B lymphocytopenia OMIM:616941
Agammaglobulinemia 4, Autosomal Recessive
Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total ... OMIM:613502
Immunodeficiency, Common Variable, 1
Impaired T cell function, Pneumonia, Splenomegaly, Recurrent pneumonia, Neutropenia in presence o... OMIM:607594
17Q23.1Q23.2 Microdeletion Syndrome
Epicanthus, Highly arched eyebrow, Congenital contracture, Long eyelashes, Shawl scrotum, Chronic... ORPHA:261279
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Hepatomegaly, Abnormal B cell count, Abnormal T cell count, Autoimmune hemolytic anemia, Eosinoph... ORPHA:331206
Wt Limb-Blood Syndrome
Pancytopenia, Cryptorchidism, Leukemia, Hypoplastic anemia, Thrombocytopenia OMIM:194350
Agammaglobulinemia 2, Autosomal Recessive
Recurrent respiratory infections, Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulin... OMIM:613500
Mody
Elevated hemoglobin A1c, Large for gestational age, Overweight, Transient neonatal diabetes melli... ORPHA:552
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Autoimmune hemolytic anemia, Fluctuating splenomegaly, Autoimmune thrombocytopenia, Neutropenia i... OMIM:619220
Thanatophoric Dysplasia, Glasgow Variant
Neonatal death, Anemia, Hepatosplenomegaly OMIM:273680
Homozygous 11P15-P14 Deletion Syndrome
Failure to thrive, Hyperinsulinemia, Hypoglycemia OMIM:606528
Lymphoproliferative Syndrome, X-Linked, 1
Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Fulminant hepatitis, Lymphadenopathy, ... OMIM:308240
Bleeding Disorder, Platelet-Type, 20
Menorrhagia, Thrombocytopenia OMIM:616913
Von Willebrand Disease, Type 2
Menorrhagia, Thrombocytopenia OMIM:613554
Bleeding Disorder, Platelet-Type, 24
Increased mean platelet volume, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Plat... OMIM:619271
Fetal Parvovirus Syndrome
Thrombocytopenia, Anemia ORPHA:295
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Macrocytic anemia, Unilateral cryptorchidism, Sparse eyelashes, Persistence of hemoglobin F, Incr... OMIM:300946
T-Cell Immunodeficiency With Thymic Aplasia
Failure to thrive, Aplasia of the thymus, Hepatosplenomegaly, T lymphocytopenia, Abnormally low T... OMIM:242700
Deafness-Lymphedema-Leukemia Syndrome
Hepatomegaly, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acute leukemia, Weight loss,... ORPHA:3226
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Cutaneous abscess, Lymphopenia, Reduced natural killer cell count, Neutropenia OMIM:619752
Congenital Disorder Of Glycosylation, Type Ix
Small scrotum, Cryptorchidism, Death in childhood, Micropenis, Failure to thrive, Thrombocytopenia OMIM:615597
Specific Granule Deficiency 2
Absent neutrophil specific granules, Recurrent pneumonia, Sepsis, Anemia, Recurrent bacterial inf... OMIM:617475
Gracile Bone Dysplasia
Death in infancy, Asplenia, Micropenis, Hypoplastic spleen, Failure to thrive OMIM:602361
Immunodeficiency 68
Abscess, Lymphadenitis, T lymphocytopenia, B lymphocytopenia, Abnormal natural killer cell count OMIM:612260
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Hydrocele testis, Anemia, Neutropenia, Congenital thrombocytopenia, Thrombocytopenia OMIM:616738
Familial Partial Lipodystrophy, Köbberling Type
Lipoatrophy, Insulin resistance, Diabetes mellitus, Hyperinsulinemia ORPHA:79084
Griscelli Syndrome, Type 2
Reduced delayed hypersensitivity, Recurrent bacterial infections, Hemophagocytosis, Hepatosplenom... OMIM:607624
Stormorken-Sjaastad-Langslet Syndrome
Asplenia, Abnormality of thrombocytes, Anemia ORPHA:3204
Hemophagocytic Lymphohistiocytosis, Familial, 3
Hemophagocytosis, Granulocytopenia, Anemia, Hepatosplenomegaly OMIM:608898
Chronic Myeloid Leukemia
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... ORPHA:521
Immunodeficiency, Common Variable, 13
Acute lymphoblastic leukemia, Pancytopenia, B lymphocytopenia OMIM:616873
Beta-Thalassemia
Hepatomegaly, Hypogonadotropic hypogonadism, Abnormal hemoglobin, Microcytic anemia, Splenomegaly... ORPHA:848
Noonan Syndrome 12
Lymphopenia, Decreased response to growth hormone stimulation test, Thrombocytopenia OMIM:618624
Immunodeficiency 110 With Lymphoproliferation
Autoimmune hemolytic anemia, Recurrent skin infections, Recurrent viral infections, Recurrent upp... OMIM:614868
Anemia, Sideroblastic, 5
Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia OMIM:619523
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas... OMIM:612925
Autosomal Recessive Spastic Paraplegia Type 46
Reduced sperm motility, Infertility, Abnormal sperm morphology, Decreased testicular size, Abnorm... ORPHA:320391
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Skin rash, Recurrent pneumonia, Decreased mean platelet volume, Recurrent infections, Inflammatio... OMIM:617718
Thrombocytopenia With Beta-Thalassemia, X-Linked
Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Reduced platelet alpha granu... OMIM:314050
Ataxia-Telangiectasia
Failure to thrive, Diabetes mellitus, Female hypogonadism, Acute lymphoblastic leukemia, T lympho... OMIM:208900
Rh Deficiency Syndrome
Hemolytic anemia, Macrocytic anemia, Reticulocytosis, Anisocytosis, Spherocytosis, Hepatosplenome... ORPHA:71275
Immunodeficiency 91 And Hyperinflammation
Death in infancy, Hepatomegaly, Neutrophilia, Hepatosplenomegaly, Lymphadenopathy, Monocytosis, H... OMIM:619644
Acute Erythroid Leukemia
Pancytopenia, Erythroid hypoplasia, Leukopenia, Bone marrow hypocellularity, Anemia ORPHA:318
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, B lymphocytopenia, Neutropenia OMIM:613107
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
Epicanthus, Hypospadias, Microcytic anemia, Cryptorchidism, Flexion contracture, Downslanted palp... ORPHA:98791
Ciliary Dyskinesia, Primary, 14
Male infertility, Recurrent respiratory infections, Absent inner dynein arms, Abnormal axonemal o... OMIM:613807
Obesity Due To Congenital Leptin Deficiency
Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d... ORPHA:66628
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity
Postnatal growth retardation, Intrauterine growth retardation, Pancytopenia OMIM:600546
Hypoglycemia, Leucine-Induced
Hypoglycemia, Hyperinsulinemic hypoglycemia OMIM:240800
Cyanosis, Transient Neonatal
Reticulocytosis, Methemoglobinemia, Anemia OMIM:613977
Orotic Aciduria
Anisocytosis, Folate-unresponsive megaloblastic anemia, Pyrimidine-responsive megaloblastic anemi... OMIM:258900
Tularemia
Brain abscess, Abnormal nasopharyngeal adenoid morphology, Leukocytosis, Mediastinal lymphadenopa... ORPHA:3392
Roch-Leri Mesosomatous Lipomatosis
Thrombocytopenia ORPHA:529
Wilson Disease
Hepatomegaly, Abnormality of the menstrual cycle, Splenomegaly, Jaundice, Increased body weight, ... ORPHA:905
Dyskeratosis Congenita, Autosomal Recessive 8
Intrauterine growth retardation, Pancytopenia, Reduced natural killer cell count, B lymphocytopenia OMIM:620133
Ras-Associated Autoimmune Leukoproliferative Disorder
Hemolytic anemia, Pancytopenia, Hepatomegaly, Autoimmune thrombocytopenia, Follicular hyperplasia... OMIM:614470
Immunodeficiency 43
Reduced natural killer cell count, B lymphocytopenia, Lung abscess OMIM:241600
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Hepatomegaly, Autoimmune hemoly... OMIM:615559
Rhabdoid Tumor
Lymphadenopathy, Anemia, Neoplasm of the liver, Weight loss, Thrombocytopenia ORPHA:69077
Combined Immunodeficiency Due To Zap70 Deficiency
Recurrent viral infections, Lymphadenitis, Colitis, Lymphocytosis, Autoimmune thrombocytopenia, H... ORPHA:911
Fanconi Anemia, Complementation Group T
Acute myeloid leukemia, Pancytopenia, Thrombocytopenia, Bone marrow hypocellularity, Anemia OMIM:616435
Transaldolase Deficiency
Hepatosplenomegaly, Anemia, Abnormality of the clitoris, Cirrhosis, Thrombocytopenia ORPHA:101028
Thrombotic Thrombocytopenic Purpura, Hereditary
Reticulocytosis, Tremor, Schistocytosis, Elevated circulating creatinine concentration, Microangi... OMIM:274150
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Hepatomegaly, Decreased proportion of marginal zone B cells, Autoimmune thrombocytopenia, Splenom... OMIM:619375
Immunodeficiency 9
Death in infancy, Failure to thrive, Hypoplasia of the thymus OMIM:612782
Cholesteryl Ester Storage Disease
Death in infancy, Hepatomegaly, Adrenal calcification, Bone-marrow foam cells, Portal hypertensio... OMIM:278000
Cyclic Neutropenia
Cyclic neutropenia, Perianal abscess, Cervical lymphadenopathy, Recurrent tonsillitis, Peritoniti... ORPHA:2686
Bleeding Disorder, Platelet-Type, 16
Giant platelets, Macrothrombocytopenia, Platelet anisocytosis, Anemia, Impaired platelet aggregat... OMIM:187800
Body Mass Index Quantitative Trait Locus 19
Hypertriglyceridemia, Insulin resistance, Hyperlipidemia, Hyperinsulinemia, Obesity, Increased se... OMIM:617885
Obesity Due To Leptin Receptor Gene Deficiency
Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d... ORPHA:179494
Aregenerative Anemia
Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Lymphadenopathy, Bone marrow hypocellulari... ORPHA:101096
Immunodeficiency With Hyper-Igm, Type 5
Impaired Ig class switch recombination, Epididymitis, Increased circulating IgM level, Recurrent ... OMIM:608106
Dominant Beta-Thalassemia
Hypoparathyroidism, Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentra... ORPHA:231226
Wolfram Syndrome, Mitochondrial Form
Sideroblastic anemia, Diabetes mellitus, Megaloblastic anemia, Neutropenia, Diabetes insipidus, T... OMIM:598500
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Increased T cell count, Increased circulating IgG level, Inflammation of the large intestine, Inc... ORPHA:98813
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Recurrent bacterial infections, Abnormality of T cell physiology, Recurrent protozoan infections,... OMIM:308220
Dyskeratosis Congenita, X-Linked
Acute myeloid leukemia, Pancytopenia, Hypospadias, Sparse eyelashes, Phimosis, Cryptorchidism, Th... OMIM:305000
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Increased proportion of memory T cells, Increased B cell count, Lymphadenopathy, Hepatosplenomegaly OMIM:618982
Aggressive Systemic Mastocytosis
Pancytopenia, Portal hypertension, Hypersplenism, Thrombocytopenia, Leukocytosis, Hepatosplenomeg... ORPHA:98850
Autosomal Dominant Severe Congenital Neutropenia
Acute myeloid leukemia, Recurrent sinopulmonary infections, Aplastic anemia, Eosinophilia, Recurr... ORPHA:486
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
T lymphocytopenia, Reduced natural killer cell count, Short stature OMIM:242860
Immunodeficiency 14B, Autosomal Recessive
Neutrophilia, Leukocytosis, Monocytosis, B lymphocytopenia, Thrombocytosis OMIM:619281
Pgm3-Cdg
Hemolytic anemia, Abnormal proportion of CD8-positive T cells, Eosinophilia, Short stature, Abnor... ORPHA:443811
Reticular Dysgenesis
Abnormality of neutrophils, Weight loss, Leukopenia, Failure to thrive, Aplasia/Hypoplasia of the... ORPHA:33355
Lead Poisoning
Decreased female libido, Small for gestational age, Skin rash, Abnormality of the menstrual cycle... ORPHA:330015
Severe Neurodegenerative Syndrome With Lipodystrophy
Reduced subcutaneous adipose tissue, Hypertriglyceridemia, Reduced intraabdominal adipose tissue,... ORPHA:363400
Preeclampsia
Increased body mass index, Small for gestational age, Polycystic ovaries, Abnormality of the hepa... ORPHA:275555
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Hemolytic anemia, Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cel... OMIM:606367
Acute Promyelocytic Leukemia
Pancytopenia, Metrorrhagia, Leukocytosis, Weight loss, Anemia, Leukopenia, Lymphadenopathy, Neutr... ORPHA:520
Burkitt Lymphoma
Abnormality of the spleen, Abnormality of the pancreas, Abnormal lymph node morphology, Abnormali... ORPHA:543
Spondylometaphyseal Dysplasia, Axial
Splenomegaly, Recurrent pneumonia, Reduced sperm motility OMIM:602271
Isovaleric Acidemia
Leukopenia, Pancytopenia, Bone marrow hypocellularity, Thrombocytopenia OMIM:243500
Ataxia-Pancytopenia Syndrome
Pancytopenia, Abnormal macrophage morphology, Abnormality of neutrophils, Splenomegaly, Acute mye... ORPHA:2585
Spermatogenic Failure 77
Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Azoospermia, Eleva... OMIM:620103
Immunodeficiency With Hyper-Igm, Type 4
Autoimmune hemolytic anemia, Osteomyelitis, Impaired Ig class switch recombination, Autoimmune th... OMIM:608184
Keratosis Follicularis Spinulosa Decalvans, X-Linked
Sparse eyelashes, Keratitis, Scarring alopecia of scalp, Sparse eyebrow, Folliculitis, Conjunctiv... OMIM:308800
Gamma-Heavy Chain Disease
Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocyto... ORPHA:100026
Stt3B-Cdg
Small scrotum, Cryptorchidism, Micropenis, Failure to thrive, Thrombocytopenia ORPHA:370924
Dk Phocomelia Syndrome
Thrombocytopenia OMIM:223340
3-Methylglutaconic Aciduria Type 4
Failure to thrive, Thrombocytopenia ORPHA:67048
Bernard-Soulier Syndrome
Impaired ristocetin-induced platelet aggregation, Giant platelets, Macrothrombocytopenia, Menorrh... OMIM:231200
Retinitis Pigmentosa And Erythrocytic Microcytosis
Anisocytosis, Decreased serum iron, Decreased mean corpuscular volume, Elliptocytosis, Poikilocyt... OMIM:616959
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Hepatomegaly, Pancytopenia, Failure to thrive in infancy, Abnormal lymphocyte count, Portal hyper... ORPHA:79124
Leukocyte Adhesion Deficiency
Sinusitis, Severe periodontitis, Recurrent staphylococcal infections, BCGosis, Sepsis, Conjunctiv... ORPHA:2968
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Asplenia OMIM:618948
Insulinoma
Nonketotic hypoglycemia, Reactive hypoglycemia, Tremor, Abnormality of the pancreatic islet cells... ORPHA:97279
Congenital Disorder Of Glycosylation, Type Iik
Hepatomegaly, Failure to thrive, Thrombocytopenia OMIM:614727
Immunodeficiency 36 With Lymphoproliferation
Splenomegaly, Enlarged tonsils, Chronic lymphatic leukemia, Increased proportion of transitional ... OMIM:616005
Spermatogenic Failure, X-Linked, 2
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest OMIM:309120
Drug-Induced Lupus Erythematosus
Elevated circulating creatine kinase concentration, Elevated circulating C-reactive protein conce... ORPHA:231111
Ciliary Dyskinesia, Primary, 46
Recurrent pneumonia, Bronchiectasis, Recurrent sinusitis, Recurrent otitis media, Reduced sperm m... OMIM:619436
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant
Sparse eyelashes, Sparse eyebrow, Scarring alopecia of scalp, Keratitis, Folliculitis, Conjunctiv... OMIM:612843
B-Cell Expansion With Nfkb And T-Cell Anergy
Splenomegaly, Increased B cell count OMIM:616452
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome
Iron deficiency anemia, Thrombocytopenia, Increased mean platelet volume, Neutropenia ORPHA:494444
T-Cell Immunodeficiency With Thymic Aplasia
Decreased proportion of naive T cells, Sinusitis, Sepsis, Recurrent candida infections, T lymphoc... ORPHA:83471
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia OMIM:252270
Immunodeficiency 27A
Splenomegaly, Leukocytosis, Hepatosplenomegaly, Weight loss, Lymphadenopathy, Enlarged mesenteric... OMIM:209950
Kid Syndrome
Angular cheilitis, Scarring alopecia of scalp, Posterior blepharitis, Sepsis, Recurrent candida i... ORPHA:477
Selective Igm Deficiency
Fasciitis, Recurrent herpes, Recurrent staphylococcal infections, Severe varicella zoster infecti... ORPHA:331235
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Eosinophilia, Autoimmune thrombocytopenia, Hepatitis, Lymphadenopathy, Anemia, Coombs-positive he... OMIM:304790
Atelis Syndrome 1
Leukopenia, Thrombocytopenia, Hypothyroidism, Anemia OMIM:620184
Immunodeficiency With Hyper-Igm, Type 3
Impaired Ig class switch recombination, Impaired memory B cell generation, Increased circulating ... OMIM:606843
Erythrocytosis, Familial, 1
Increased red blood cell mass, Splenomegaly, Increased hematocrit, Increased hemoglobin OMIM:133100
Immunodeficiency, Common Variable, 2
Impaired T cell function, Splenomegaly, Recurrent pneumonia, Bronchiectasis, Recurrent bacterial ... OMIM:240500
Immunodeficiency With Hyper-Igm, Type 1
Sepsis, Decreased circulating IgE, Neutropenia, Decreased circulating IgG level, Meningitis, Hemo... OMIM:308230
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
Failure to thrive, Flexion contracture, Anisocytosis, Camptodactyly OMIM:604273
Alpha-Thalassemia
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Anemia ORPHA:846
Agammaglobulinemia 10, Autosomal Dominant
Type I diabetes mellitus, Transient neutropenia, Absent circulating B cells OMIM:619707
Platelet Signal Processing Defect
Impaired collagen-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Thromb... OMIM:173590
Platelet Glycoprotein Iv Deficiency
Giant platelets, Thrombocytopenia OMIM:608404
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Diabetes mellitus, Dorsocervical fat pad, Delayed thelarche, Hyperinsulinemic hypoglycemia, Delay... OMIM:616033
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Liver abscess, Osteomyelit... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Liver abscess, Osteomyelit... OMIM:233710
Combined Immunodeficiency Due To Dock8 Deficiency
T lymphocytopenia, B lymphocytopenia ORPHA:217390
Agammaglobulinemia 9, Autosomal Recessive
Thrombocytopenia, Failure to thrive, Absent circulating B cells OMIM:619693
Non-Involuting Congenital Hemangioma
Hepatic hemangioma, Thrombocytopenia ORPHA:141179
Flotch Syndrome
Sparse eyelashes, Abnormal eyelid morphology, Abnormal eyelash morphology, Blepharitis, Inflammat... ORPHA:2045
Bare Lymphocyte Syndrome, Type Ii
Viral hepatitis, Chronic lymphocytic meningitis, Recurrent urinary tract infections, Cholangitis,... OMIM:209920
Pseudo-Von Willebrand Disease
Intermittent thrombocytopenia OMIM:177820
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Short stature, Neutropenia OMIM:610798
Vitamin B12-Unresponsive Methylmalonic Acidemia
Hepatomegaly, Macrocytic anemia, Anemia, Leukopenia, Pancreatitis, Thrombocytopenia ORPHA:27
Hepatoportal Sclerosis
Portal hypertension, Nodular regenerative hyperplasia of liver, Hypersplenism, Splenomegaly, Port... ORPHA:64743
Necrobiosis Lipoidica
Inflammatory abnormality of the skin, Atrophic scars, Granuloma, Abnormality of neutrophil physio... ORPHA:542592
Hyperinsulinism Due To Ucp2 Deficiency
Reactive hypoglycemia, Large for gestational age, Hypoglycemic seizures, Decreased circulating fr... ORPHA:276556
Inflammatory Skin And Bowel Disease, Neonatal, 1
Pustule, Increased circulating IgE level, Erythroderma, Failure to thrive, Blepharitis OMIM:614328
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Liver abscess, Osteomyelit... OMIM:233690
Griscelli Syndrome
Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Jaundice, Hepatitis, Lymphadenopathy, Leu... ORPHA:381
Nephrotic Syndrome, Type 7
Hemolytic anemia, Thrombocytopenia OMIM:615008
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Decreased circulating IgG level, Skin rash, Recurrent viral infections, Recurrent mycobacterial i... ORPHA:275
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Male infertility, Recurrent respiratory infections, Bronchiectasis, Coiled sperm flagella, Recurr... OMIM:620197
Azoospermia, Obstructive, With Nephrolithiasis
Male infertility, Spermatocele, Obstructive azoospermia OMIM:301060
Immunodeficiency 17
Death in infancy, Autoimmune hemolytic anemia, Decreased proportion of CD8-positive T cells, T ly... OMIM:615607
Macrophage Activation Syndrome
Hepatomegaly, Splenomegaly, Hepatitis, Lymphadenopathy, Anemia, Hemophagocytosis, Neutropenia, Ab... ORPHA:158061
Leukodystrophy, Hypomyelinating, 24
Hypothyroidism, B lymphocytopenia OMIM:619851
Peroxisome Biogenesis Disorder 2A (Zellweger)
Intrahepatic biliary dysgenesis, Hepatomegaly, Cryptorchidism, Jaundice, Hypoplasia of the thymus... OMIM:214110
Thyrocerebrorenal Syndrome
Euthyroid goiter, Thrombocytopenia ORPHA:3327
Eosinophilic Fasciitis
Fasciitis, Abnormal eosinophil morphology, Myositis, Eosinophilia, Weight loss, Arthritis, Cellul... ORPHA:3165
Immunodeficiency 26 With Or Without Neurologic Abnormalities
T lymphocytopenia, Micropenis, B lymphocytopenia, Abnormal natural killer cell morphology OMIM:615966
Generalized Eruptive Histiocytosis
Leukemia, Hypereosinophilia, Lymphadenopathy, Histiocytosis ORPHA:157991
Sickle Cell Anemia
Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the spleen, Leukocytosis, El... ORPHA:232
Felty Syndrome
Hepatomegaly, Splenomegaly, Weight loss, Anemia, Lymphadenopathy, Bone marrow hypocellularity, Ne... ORPHA:47612
Thrombocytopenia 5
B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia, Thrombocy... OMIM:616216
Ciliary Dyskinesia, Primary, 34
Male infertility, Absent central microtubular pair morphology of respiratory motile cilia, Bronch... OMIM:617091
Immunodeficiency 61
Recurrent respiratory infections, Frequent Giardia lamblia infestation, Decreased circulating IgG... OMIM:300310
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Hypoglycemia, Large for gestational age, Obesity, Truncal obesity, Fasting hypoglycemia, Hypoinsu... OMIM:240900
Combined Immunodeficiency, X-Linked
Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells OMIM:312863
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Hemolytic anemia, Acute pancreatitis, Abscess, Eczema, Perianal abscess, Splenomegaly, Lymphadeni... OMIM:618935
Congenital Disorder Of Glycosylation, Type Ih
Death in infancy, Hepatomegaly, Cryptorchidism, Cholestasis, Anemia, Neonatal death, Decreased ci... OMIM:608104
Familial Peripheral Male-Limited Precocious Puberty
Male infertility, Acne, Precocious puberty, Long penis, Oligozoospermia, Macroorchidism ORPHA:3000
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7
Portal hypertension, Cryptorchidism, Anemia, Type I diabetes mellitus, Lymphopenia, Thrombocytopenia OMIM:620365
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Brain abscess, Neutrophilia, Liver abscess, Abnormality of the pancreas, Abnormality of the lymph... ORPHA:54251
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Abnormality of the tonsils, Decreased proportion of CD8-positive T cells, Gonadal dysgenesis, Abn... OMIM:611926
Osteopetrosis, Autosomal Recessive 4
Reticulocytosis, Hepatomegaly, Splenomegaly, Thrombocytopenia, Anemia OMIM:611490
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Adrenal cortical sclerosis, Hepatomegaly, Autoimmune hemolytic anemia, Severe B lymphocytopenia, ... OMIM:102700
Xeroderma Pigmentosum
Conjunctival telangiectasia, Entropion, Keratitis, Cryptorchidism, Ankyloblepharon, Hypogonadism,... ORPHA:910
Rapidly Involuting Congenital Hemangioma
Hepatic hemangioma, Thrombocytopenia ORPHA:141184
Heme Oxygenase 1 Deficiency
Hemolytic anemia, Hepatomegaly, Asplenia, Cervical lymphadenopathy, Lymphadenopathy, Coombs-posit... OMIM:614034
Immunodeficiency 34
Recurrent mycobacterial infections, BCGosis, Pulmonary tuberculosis OMIM:300645
Erythrocytosis, Familial, 8
Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:222800
Giant platelet syndrome with thrombocytopenia
Giant platelets, Thrombocytopenia OMIM:137560
Body Mass Index Quantitative Trait Locus 20
Hyperinsulinemia, Obesity OMIM:618406
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Hepatomegaly, Anemia, Neutropenia, Pancreatitis, Thrombocytopenia ORPHA:289916
Immunodeficiency, Common Variable, 5
Recurrent respiratory infections, Chronic decreased circulating total IgG, Recurrent bacterial in... OMIM:613495
Moyamoya Disease 6 With Or Without Achalasia
Impotence, Thrombocytopenia OMIM:615750
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Hepatomegaly, Autoimmune hemolytic anemia, Failure to thrive, Splenomegaly, Lymphadenopathy, Decr... OMIM:618495
Ghosal Hematodiaphyseal Dysplasia
Refractory anemia, Leukopenia, Bone marrow hypocellularity, Thrombocytopenia OMIM:231095
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Reticulocytosis, Hyperlipidemia, Schistocytosis, Elevated circulating creatinine concentration, M... OMIM:235400
Immunodeficiency, Common Variable, 8, With Autoimmunity
Pancytopenia, Autoimmune hemolytic anemia, Generalized lymphadenopathy, Chronic neutropenia, Auto... OMIM:614700
Fanconi Anemia, Complementation Group V
Anemia, Bone marrow hypocellularity, Thrombocytopenia, Neutropenia OMIM:617243
Boutonneuse Fever
Leukopenia, Cervical lymphadenopathy, Thrombocytopenia, Lymphadenopathy ORPHA:83313
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Abnormal eyelid morphology, Uveitis, Conjunctivitis, Absent eyebrow, Abnormal dental enamel morph... ORPHA:2273
Adult Idiopathic Neutropenia
Helicobacter pylori infection, Abnormal neutrophil count, Recurrent infections, Increased circula... ORPHA:2688
Dopamine Beta-Hydroxylase Deficiency
Hypoglycemia, Insulin resistance, Elevated circulating creatinine concentration, Hyperinsulinemia... ORPHA:230
Mandibuloacral Dysplasia
Loss of subcutaneous adipose tissue in limbs, Hypertriglyceridemia, Lipoatrophy, Increased subcut... ORPHA:2457
Isolated Follicle Stimulating Hormone Deficiency
Hyperplasia of the Leydig cells, Decreased female libido, Hypogonadotropic hypogonadism, Female h... ORPHA:52901
Moebius Syndrome
Epicanthus, Hypogonadotropic hypogonadism, Breast aplasia, Arthrogryposis multiplex congenita, Bl... ORPHA:570
Spermatogenic Failure 15
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:616950
Complement Component 7 Deficiency
Recurrent Neisserial infections, Recurrent meningococcal disease OMIM:610102
Moyamoya Disease With Early-Onset Achalasia
Abnormal platelet aggregation, Thrombocytopenia ORPHA:401945
Proteasome-Associated Autoinflammatory Syndrome 3
Lymphopenia, Hepatomegaly, Splenomegaly, Lymphadenopathy, Anemia, Failure to thrive, Thrombocytop... OMIM:617591
Hermansky-Pudlak Syndrome 9
Leukopenia, Abnormal platelet aggregation, Thrombocytopenia OMIM:614171
Obesity And Hypopigmentation
Hyperinsulinemia, Obesity OMIM:620195
X-Linked Agammaglobulinemia
Recurrent cutaneous abscess formation, Abnormality of the tonsils, Abnormality of the lymphatic s... ORPHA:47
Bdv Syndrome
Decreased thyroid-stimulating hormone level, Hypogonadotropic hypogonadism, Hyperinsulinemia, Obe... OMIM:619326
Diffuse Neonatal Hemangiomatosis
Thrombocytopenia, Abnormal vagina morphology, Anemia, Hepatomegaly ORPHA:2123
Gray Platelet Syndrome
Impaired thrombin-induced platelet aggregation, Abnormal number of alpha granules, Splenomegaly, ... OMIM:139090
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Acute myeloid leukemia, Refractory anemia, Leukopenia, Monocytosis, Bone marrow hypocellularity OMIM:616871
Epidermodysplasia Verruciformis, Susceptibility To, 5
T lymphocytopenia, Lymphopenia OMIM:618309
Cd8 Deficiency, Familial
Recurrent respiratory infections, Recurrent viral infections, Absence of CD8-positive T cells, Br... OMIM:608957
Immunodeficiency 70
Decreased proportion of CD4-positive helper T cells, B lymphocytopenia OMIM:618969
Pseudo-Torch Syndrome 3
Death in infancy, Lymphadenitis, Leukocytosis, Congenital thrombocytopenia, Anemia OMIM:618886
Roifman Syndrome
Hip contracture, Hypogonadotropic hypogonadism, Eosinophilia, Eczema, Recurrent pneumonia, Promin... ORPHA:353298
Systemic Lupus Erythematosus
Hemolytic anemia, Thrombocytopenia, Leukopenia OMIM:152700
Congenital Rubella Syndrome
Hepatomegaly, Splenomegaly, Jaundice, Anemia, Type I diabetes mellitus, Thrombocytopenia ORPHA:290
Lipodystrophy, Familial Partial, Type 2
Loss of subcutaneous adipose tissue in limbs, Decreased HDL cholesterol concentration, Reduced su... OMIM:151660
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Elevated circulating growth hormone concentration, Neonatal hypoglycemia, Large for gestational a... ORPHA:79644
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome
Portal hypertension, Nodular regenerative hyperplasia of liver, Hepatosplenomegaly, Bone marrow h... ORPHA:210136
Limb-Mammary Syndrome
Absent lacrimal punctum, Psoriasiform dermatitis, Chronic irritative conjunctivitis, Absent nippl... ORPHA:69085
Transaldolase Deficiency
Hepatomegaly, Pancytopenia, Clitoral hypertrophy, Small for gestational age, Splenomegaly, Micron... OMIM:606003
Slc35A1-Cdg
Giant platelets, Abnormal platelet granules, Thrombocytopenia, Neutropenia ORPHA:238459
Galactokinase Deficiency
Hypergonadotropic hypogonadism, Hypoglycemia, Small for gestational age, Hyperinsulinemia, Hepato... ORPHA:79237
Autoinflammation With Episodic Fever And Lymphadenopathy
Hepatomegaly, Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy OMIM:618852
Ciliary Dyskinesia, Primary, 26
Recurrent respiratory infections, Absent outer dynein arms, Bronchiectasis, Rhinitis, Infertility... OMIM:615500
Thrombocytopenia, Anemia, And Myelofibrosis
Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia OMIM:617441
Hemochromatosis, Type 3
Hypogonadotropic hypogonadism, Impotence, Cirrhosis, Neutropenia, Lymphopenia, Anemia, Amenorrhea OMIM:604250
Leukocyte Adhesion Deficiency, Type Iii
Hepatomegaly, Extramedullary hematopoiesis, Abnormality of thrombocytes, Splenomegaly, Leukocytos... OMIM:612840
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Failure ... OMIM:600802
Lymphangiectasia, Intestinal
Intestinal lymphangiectasia, Lymphopenia, Stillbirth OMIM:152800
Syndromic Diarrhea
Hepatomegaly, Small for gestational age, Increased mean platelet volume, Splenomegaly, Abnormalit... ORPHA:84064
Pelger-Huet Anomaly
Abnormality of neutrophils, Hyposegmentation of neutrophil nuclei, Giant platelets, Neutropenia, ... OMIM:169400
Imerslund-Gräsbeck Syndrome
Reticulocytosis, Macrocytic anemia, Pancytopenia, Megaloblastic anemia, Anisopoikilocytosis, Abno... ORPHA:35858
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency
Large for gestational age, Anemia, Bone marrow hypocellularity, Neutropenia, Failure to thrive, T... OMIM:614520
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Hypoglycemia, Small for gestational age, Precocious puberty, Insulin-resistant diabetes mellitus,... OMIM:262190
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Large for gestational age, Abnormal circulating fatty-acid concentration, Tremor, Hyperinsulinemi... ORPHA:263455
Insulin-Resistance Syndrome Type B
Fasting hyperinsulinemia, Increased body weight, Leukopenia, Glucose intolerance, Hypoalbuminemia... ORPHA:2298
Thiamine-Responsive Megaloblastic Anemia Syndrome
Sideroblastic anemia, Diabetes mellitus, Thiamine-responsive megaloblastic anemia, Cryptorchidism... OMIM:249270
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hepatomegaly, Splenomegaly, Jaundice, Lymphadenopathy, Anemia, Leukopenia, Hemophagocytosis, Fail... OMIM:267700
Pearson Syndrome
Hypoparathyroidism, Reticulocytosis, Pancytopenia, Diabetes mellitus, Small for gestational age, ... ORPHA:699
Immunodeficiency 81
Decreased proportion of CD4-positive T cells, Recurrent cutaneous abscess formation, Autoimmune h... OMIM:619374
Bleeding Disorder, Platelet-Type, 21
Increased mean platelet volume, Impaired ADP-induced platelet aggregation, Menorrhagia, Impaired ... OMIM:617443
Interstitial Nephritis, Karyomegalic
Glycosuria, Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:614817
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Lymphopenia, Autoimmune hemolytic anemia, Plasmacytosis OMIM:247800
Neonatal Lupus Erythematosus
Hemolytic anemia, Pancytopenia, Hepatomegaly, Aplastic anemia, Splenomegaly, Cholestasis, Anemia,... ORPHA:398124
Immunodeficiency 10
Autoimmune hemolytic anemia, Thrombocytopenia, Lymphadenopathy OMIM:612783
Retinitis Pigmentosa
Hyperinsulinemia, Obesity, Atypical scarring of skin, Hypogonadism, Type II diabetes mellitus ORPHA:791
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis
Failure to thrive, Blepharitis, Psoriasiform dermatitis OMIM:616834
Spermatogenic Failure 2
Male infertility, Non-obstructive azoospermia, Azoospermia, Oligozoospermia OMIM:108420
Thrombocytopenia 4
Abnormal platelet volume, Thrombocytopenia OMIM:612004
Congenital Erythropoietic Porphyria
Hemolytic anemia, Reticulocytosis, Recurrent bacterial skin infections, Scarring, Anisocytosis, I... ORPHA:79277
Idiopathic Acute Eosinophilic Pneumonia
Abnormal eosinophil morphology ORPHA:724
Chediak-Higashi Syndrome
Impaired neutrophil bactericidal activity, Recurrent bacterial skin infections, Recurrent systemi... OMIM:214500
Transient Neonatal Diabetes Mellitus
Small for gestational age, Maternal diabetes, Maturity-onset diabetes of the young, Transient neo... ORPHA:99886
Bleeding Disorder, Platelet-Type, 15
Thrombocytopenia, Platelet anisocytosis, Increased mean platelet volume OMIM:615193
Diamond-Blackfan Anemia 4
Macrocytic anemia, Short stature, Erythroid hypoplasia, Reticulocytopenia, Growth delay, Neutropenia OMIM:612527
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Acute myeloid leukemia, Hepatomegaly, Neutrophilia, Eosinophilia, Splenomegaly... ORPHA:98849
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Cryptorchidism, Normochromic anemia, Neutropenia, Failure to thrive, Thrombocytopenia OMIM:614857
Ciliary Dyskinesia, Primary, 12
Recurrent respiratory infections, Bronchiectasis, Abnormal central microtubular pair morphology o... OMIM:612650
Cog4-Cdg
Cirrhosis, Failure to thrive in infancy, Thrombocytopenia, Hepatosplenomegaly ORPHA:263501
Lig4 Syndrome
Pancytopenia, Small for gestational age, Cryptorchidism, Acute lymphoblastic leukemia, Type II di... OMIM:606593
Autoimmune Lymphoproliferative Syndrome
Hepatomegaly, Autoimmune hemolytic anemia, Eosinophilia, Chronic noninfectious lymphadenopathy, A... OMIM:601859
Portal Hypertension, Noncirrhotic, 2
Hepatomegaly, Portal hypertension, Nodular regenerative hyperplasia of liver, Splenomegaly, Hepat... OMIM:619463
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Hemolytic anemia, Increased mean platelet volume, Impaired ristocetin-induced platelet aggregatio... OMIM:153670
Diethylstilbestrol Syndrome
Premature ovarian insufficiency, Hypospadias, Vaginal neoplasm, Small for gestational age, Decrea... ORPHA:1916
Thrombotic Thrombocytopenic Purpura
Reticulocytosis, Microangiopathic hemolytic anemia, Thrombocytopenia ORPHA:54057
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Chronic gastritis, Recurrent herpes, Liver abscess, Cholangitis, Sepsis, Pulmonary tuberculosis, ... ORPHA:183675
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hepatomegaly, Pancytopenia, Splenomegaly, Jaundice, Hepatosplenomegaly, Anemia, Leukopenia, Lymph... OMIM:603553
Immunodeficiency 30
Recurrent mycobacterial infections, Recurrent infections OMIM:614891
Immunodeficiency 49
Impaired lymphocyte transformation with phytohemagglutinin, Eosinophilia, T lymphocytopenia, Abno... OMIM:617237
Myh9-Related Disease
Increased mean platelet volume, Giant platelets, Neutrophil inclusion bodies, Menorrhagia, Congen... ORPHA:182050
Hemangioma-Thrombocytopenia Syndrome
Microangiopathic hemolytic anemia, Thrombocytopenia OMIM:141000
Complement Component 8 Deficiency, Type Ii
Recurrent Neisserial infections, Meningitis OMIM:613789
Thyrocerebroretinal Syndrome
Thrombocytopenia, Goiter OMIM:274240
Bone Marrow Failure Syndrome 3
Aplastic anemia, Pancreatic steatosis, Hernia, Neutropenia, Amelogenesis imperfecta, Cryptorchidi... OMIM:617052
Eosinophil Peroxidase Deficiency
Eosinophil nuclear hypersegmentation OMIM:261500
Sengers Syndrome
Premature ovarian insufficiency, Thrombocytopenia OMIM:212350
Dyskeratosis Congenita, Autosomal Recessive 2
Pancytopenia, Bone marrow hypocellularity, Cirrhosis, Testicular atrophy, Thrombocytopenia OMIM:613987
Granulomatous Disease, Chronic, X-Linked
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Liver abscess, Osteomyelit... OMIM:306400
Microphthalmia, Syndromic 9
Cryptorchidism, Multilobulated spleen, Hypoplasia of the uterus, Bicornuate uterus, Neonatal deat... OMIM:601186
Autoinflammatory-Pancytopenia Syndrome
Pancytopenia, Hepatosplenomegaly, Cholestatic liver disease, Granuloma, Hepatic fibrosis, Hemopha... OMIM:619858
Diamond-Blackfan Anemia 8
Macrocytic anemia, Short stature, Growth delay, Increased mean corpuscular volume, Neutropenia OMIM:612563
Ciliary Dyskinesia, Primary, 18
Male infertility, Absent inner dynein arms, Absent outer dynein arms, Rhinitis, Recurrent sinusit... OMIM:614874
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Recurrent respiratory infections, Inguinal hernia, Telecanthus, Hypogonadotropic hypogonadism, Sp... OMIM:129900
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Thrombocytopenia OMIM:314000
Olmsted Syndrome, X-Linked
Posterior blepharitis, Blepharitis OMIM:300918
Immunodeficiency 7
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Lymphadenopathy, Neut... OMIM:615387
Hemophagocytic Syndrome Associated With An Infection
Hepatomegaly, Pancytopenia, Splenomegaly, Abnormal T cell subset distribution, Anemia, Hemophagoc... ORPHA:158048
Ciliary Dyskinesia, Primary, 36, X-Linked
Male infertility, Recurrent respiratory infections, Bronchiectasis, Recurrent sinusitis, Chronic ... OMIM:300991
Clouston Syndrome
Sparse eyebrow, Sparse eyelashes, Conjunctivitis, Blepharitis OMIM:129500
Paternal Uniparental Disomy Of Chromosome 1
Hypercalcemia, Abnormal dental enamel morphology, Obesity, Increased blood urea nitrogen, Delayed... ORPHA:251004
Mast Cell Sarcoma
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Weight loss, Mastocytosis ORPHA:66661
Allergic Bronchopulmonary Aspergillosis
Abnormal eosinophil morphology, Bronchiectasis, Weight loss ORPHA:1164
Thiamine-Responsive Megaloblastic Anemia Syndrome
Diabetes mellitus, Thrombocytopenia, Megaloblastic anemia ORPHA:49827
Chédiak-Higashi Syndrome
Recurrent staphylococcal infections, Vacuolated lymphocytes, Periodontitis, Neutropenia, Abnormal... ORPHA:167
Classic Galactosemia
Male infertility, Premature ovarian insufficiency, Decreased fertility in females, Abnormal eryth... ORPHA:79239
Immunodeficiency, Common Variable, 6
Recurrent respiratory infections, Glomerulonephritis, Autoimmune thrombocytopenia, Recurrent bact... OMIM:613496
Aicardi-Goutieres Syndrome 5
Thrombocytopenia OMIM:612952
Immunodeficiency 40
Hepatomegaly, Eosinophilic granuloma, T lymphocytopenia, Macrovesicular hepatic steatosis, Thromb... OMIM:616433
Hepatoerythropoietic Porphyria
Hemolytic anemia, Recurrent bacterial skin infections, Scarring, Scarring alopecia of scalp, Sple... ORPHA:95159
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Hyperinsulinemia, Obesity, Type II diabetes mellitus, Keloids ORPHA:3085
Neutropenia, Severe Congenital, 3, Autosomal Recessive
Acute lymphoblastic leukemia, Recurrent bacterial infections, Neutropenia OMIM:610738
Complement Factor D Deficiency
Recurrent bacterial infections OMIM:613912
Spermatogenic Failure 75
Male infertility, Non-obstructive azoospermia, Elevated circulating follicle stimulating hormone ... OMIM:619949
Eec Syndrome
Entropion, Hypospadias, Abnormal dental enamel morphology, Decreased response to growth hormone s... ORPHA:1896
Ichthyosis, Congenital, Autosomal Recessive 11
Sparse eyebrow, Sparse eyelashes, Blepharitis, Curly eyelashes OMIM:602400
Sickle Cell Disease
Hemolytic anemia, Splenomegaly, Leukocytosis, Splenic infarction, Recurrent bacterial infections,... OMIM:603903
Idiopathic Aplastic Anemia
Pancytopenia, Reticulocytopenia, Anemia, Bone marrow hypocellularity, Neutropenia, Thrombocytopenia ORPHA:88
Ciliary Dyskinesia, Primary, 11
Recurrent respiratory infections, Bronchiectasis, Abnormal central microtubular pair morphology o... OMIM:612649
Alpha-Thalassemia
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:604131
Beta-Thalassemia
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Thrombocytopenia, Paris-Trousseau Type
Thrombocytopenia OMIM:188025
Refractory Anemia With Excess Blasts
Acute myeloid leukemia, Anemia of inadequate production, Leukocytosis, Abnormal mean corpuscular ... ORPHA:86839
Acrodermatitis Enteropathica
Abnormal eyebrow morphology, Abnormal eyelid morphology, Pustule, Cheilitis, Weight loss, Conjunc... ORPHA:37
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Decreased proportion of class-switched memory B cells, B lymphocytopenia, Absent circulating B ce... OMIM:619705
Autoimmune Polyendocrinopathy Type 4
Macrocytic anemia, Hypergonadotropic hypogonadism, Autoimmune thrombocytopenia, Primary adrenal i... ORPHA:227990
Intermediate Osteopetrosis
Thrombocytopenia, Anemia, Hepatosplenomegaly ORPHA:210110
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Sideroblastic anemia, Extramedullary hematopoiesis, Small for gestational age, Anemia, Increased ... OMIM:617021
Ciliary Dyskinesia, Primary, 15
Recurrent respiratory infections, Abnormal axonemal organization of respiratory motile cilia, Rec... OMIM:613808
Letterer-Siwe Disease
Jaundice, Hepatosplenomegaly, Anemia, Neutropenia, Thrombocytopenia OMIM:246400
Erythrocytosis, Familial, 4
Increased hematocrit, Polycythemia, Increased hemoglobin, Elevated circulating erythropoietin con... OMIM:611783
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Hepatomegaly, Leukopenia, Neutropenia, Failure to thrive, Pancreatitis, Thrombocytopenia OMIM:251000
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Failure ... ORPHA:35078
Candidiasis, Familial, 8
Seborrheic dermatitis, Cheilitis, Chronic oral candidiasis, Onychomycosis, Blepharitis OMIM:615527
Congenital Disorder Of Glycosylation, Type Iif
Decreased platelet glycoprotein Ib, Macrothrombocytopenia, Thrombocytopenia, Neutropenia OMIM:603585
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Lymphopenia, Recurrent herpes, Eosinophilia, Pneumonia, Recurrent pneumonia, Hepatitis, Recurrent... ORPHA:169160
Autoimmune Polyendocrinopathy Type 3
Macrocytic anemia, Hypergonadotropic hypogonadism, Autoimmune hypoparathyroidism, Autoimmune thro... ORPHA:227982
Obesity Due To Sim1 Deficiency
Glucose intolerance, Hyperinsulinemia, Obesity ORPHA:369873
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Impaired neutrophil bactericidal activity, Pigment gallstones, Spontaneous hemolytic crises, Sple... OMIM:613470
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos... OMIM:608203
Agammaglobulinemia 1, Autosomal Recessive
Recurrent respiratory infections, Recurrent enteroviral infections, Recurrent pneumonia, Bronchie... OMIM:601495
Spinocerebellar Ataxia Type 32
Male infertility, Azoospermia, Testicular atrophy ORPHA:276183
Congenital Generalized Lipodystrophy
Hypertriglyceridemia, Precocious puberty in females, Diabetes mellitus, Lipodystrophy, Adipose ti... ORPHA:528
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults
Acute myeloid leukemia, Neutropenia OMIM:607847
Immunodeficiency 92
Hepatomegaly, Cholangitis, Leukocytosis, Decreased proportion of class-switched memory B cells, S... OMIM:619652
Immunodeficiency 25
T lymphocytopenia, Autoimmune hemolytic anemia, Eosinophilia OMIM:610163
Tufted Angioma
Anemia, Thrombocytopenia ORPHA:1063
Good Syndrome
Abnormal leukocyte morphology, Diabetes mellitus, Mediastinal lymphadenopathy, Thymoma, Anemia, A... ORPHA:169105
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Hepatomegaly, Pancytopenia, Megaloblastic anemia, Jaundice, Increased mean corpuscular volume, Th... OMIM:613839
Ectodermal Dysplasia 15, Hypohidrotic/Hair Type
Sparse eyelashes, Eczema, Blepharitis OMIM:618535
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hemolytic anemia, Reticulocytosis, Failure to thrive, Dystonia, Anisocytosis, Leukocytosis, Hepat... OMIM:618278
Hermansky-Pudlak Syndrome 2
Absent platelet dense granules, Decreased CD4:CD8 ratio, Splenomegaly, Hepatosplenomegaly, Enlarg... OMIM:608233
Osteopetrosis, Autosomal Recessive 2
Pancytopenia, Extramedullary hematopoiesis, Hepatosplenomegaly, Anemia, Thrombocytopenia OMIM:259710
Immunodeficiency With Hyper-Igm, Type 2
Recurrent infection of the gastrointestinal tract, Recurrent respiratory infections, Impaired Ig ... OMIM:605258
Mevalonic Aciduria
Normocytic hypoplastic anemia, Failure to thrive in infancy, Fluctuating splenomegaly, Fluctuatin... OMIM:610377
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Epicanthus, Synophrys, Hydrocele testis, Upslanted palpebral fissure, Blepharitis, Flexion contra... ORPHA:280633
Combined Immunodeficiency Due To Crac Channel Dysfunction
Hemolytic anemia, Pneumonia, Recurrent viral infections, Splenomegaly, Recurrent mycobacterial in... ORPHA:169090
Prolidase Deficiency
Hepatomegaly, Splenomegaly, Anemia, Prolonged neonatal jaundice, Failure to thrive, Thrombocytopenia OMIM:170100
Relapsing Fever
Neutrophilia, Leukocytosis, Jaundice, Anemia, Leukopenia, Thrombocytopenia ORPHA:91547
Lichen Planus Pemphigoides
Conjunctivitis, Blepharitis ORPHA:254478
Isolated Anencephaly
Thymus hyperplasia, Adrenal hypoplasia, Maternal diabetes ORPHA:563609
Immunodeficiency 23
Hemolytic anemia, Failure to thrive, Recurrent respiratory infections, Membranoproliferative glom... OMIM:615816
Gaucher Disease Type 1
Hepatomegaly, Pancytopenia, Hypersplenism, Splenomegaly, Anemia, Leukopenia, Cirrhosis, Delayed p... ORPHA:77259
Neutropenia, Severe Congenital, X-Linked
Eczema, Recurrent bacterial infections, Neutropenia, Monocytopenia, Decreased CD4:CD8 ratio OMIM:300299
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections
Recurrent sinopulmonary infections, Skin rash, Eosinophilia, Increased circulating IgE level, Rec... OMIM:147060
Propionic Acidemia
Hepatomegaly, Pancytopenia, Anemia, Neutropenia, Failure to thrive, Pancreatitis, Thrombocytopenia OMIM:606054
Diamond-Blackfan Anemia 3
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia OMIM:610629
Fanconi Anemia, Complementation Group A
Male infertility, Pancytopenia, Small for gestational age, Hypergonadotropic hypogonadism, Crypto... OMIM:227650
Erythrocytosis, Familial, 5
Increased hematocrit, Polycythemia, Increased hemoglobin, Elevated circulating erythropoietin con... OMIM:617907
Neurodevelopmental Disorder With Hearing Loss, Seizures, And Brain Abnormalities
Failure to thrive, Thrombocytopenia OMIM:616577
Dyskeratosis Congenita, Autosomal Dominant 2
Pancytopenia, Aplastic anemia, Leukopenia, Hepatic fibrosis, Bone marrow hypocellularity, Neutrop... OMIM:613989
Eosinophilopenia
Decreased eosinophil count, Allergic rhinitis OMIM:131430
Bloom Syndrome
Recurrent herpes, Adipose tissue loss, Severe varicella zoster infection, Uveitis, Otitis media, ... ORPHA:125
Hoyeraal-Hreidarsson Syndrome
Abnormal leukocyte morphology, Anemia, Bone marrow hypocellularity, Failure to thrive, Thrombocyt... ORPHA:3322
Acitretin/Etretinate Embryopathy
Hypoplasia of the thymus ORPHA:40366
Primary Ciliary Dyskinesia
Male infertility, Recurrent sinopulmonary infections, Female infertility, Asplenia, Recurrent myc... ORPHA:244
Immunodeficiency 38 With Basal Ganglia Calcification
Recurrent mycobacterial infections OMIM:616126
Autosomal Agammaglobulinemia
Recurrent respiratory infections, Epicanthus, Sinusitis, Osteomyelitis, Skin rash, Recurrent skin... ORPHA:33110
Immunodeficiency, Common Variable, 4
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:613494
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Decreased proportion of memory B cells, B lymphocytopenia ORPHA:70593
Familial Hemophagocytic Lymphohistiocytosis
Hepatomegaly, Splenomegaly, Jaundice, Lymphadenopathy, Anemia, Cholestatic liver disease, Hemopha... ORPHA:540
Gaucher Disease, Type I
Hepatomegaly, Pancytopenia, Hypersplenism, Splenomegaly, Anemia, Thrombocytopenia OMIM:230800
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Hypogonadotropic hypogonadism, Sparse eyelashes, Lacrimal duct stenosis, Absence of Stensen duct,... OMIM:604292
Maternal Uniparental Disomy Of Chromosome 6
Clitoral hypertrophy, Miscarriage, Hydrocele testis, Increased serum testosterone level, Congenit... ORPHA:96181
Osteopetrosis, Autosomal Recessive 1
Hepatomegaly, Pancytopenia, Splenomegaly, Anemia, Failure to thrive, Thrombocytopenia OMIM:259700
Ciliary Dyskinesia, Primary, 45
Male infertility, Recurrent respiratory infections, Bronchiectasis, Absent inner and outer dynein... OMIM:618801
Hereditary Folate Malabsorption
Pancytopenia, Eosinophilia, Megaloblastic anemia, Failure to thrive, Thrombocytopenia ORPHA:90045
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Thrombocytopenia, Reticulocytopenia, Leukopenia, B lymphocytopenia, Bone marrow hypocellularity, ... ORPHA:508542
Methemoglobinemia And Ambiguous Genitalia
Bifid scrotum, Scrotal hypospadias, Hypospadias, Elevated circulating luteinizing hormone level, ... OMIM:250790
Progeria-Short Stature-Pigmented Nevi Syndrome
Neoplasm of the pancreas, Premature ovarian insufficiency, Small for gestational age, Hypergonado... ORPHA:2959
Whim Syndrome
Sinusitis, Severe periodontitis, Pneumonia, Cellulitis, Lymphadenitis, Recurrent upper respirator... ORPHA:51636
Immunodeficiency 22
Abscess, Anemia, Decreased proportion of CD4-positive helper T cells, Failure to thrive, Thromboc... OMIM:615758
Immunodeficiency 88
BCGosis, Eosinophilia OMIM:619630
Erythrocytosis, Familial, 2
Increased hemoglobin, Increased red blood cell mass, Increased hematocrit, Failure to thrive, Ele... OMIM:263400
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
B lymphocytopenia OMIM:614069
Neutrophil Actin Dysfunction
Recurrent bacterial infections OMIM:257150
Immunodeficiency 28
Recurrent mycobacterial infections OMIM:614889
Schimke Immunoosseous Dysplasia
Pancytopenia, Small for gestational age, Bilateral cryptorchidism, Elevated circulating thyroid-s... OMIM:242900
Short Stature, Dauber-Argente Type
Fasting hyperinsulinemia, Increased insulin like growth factor binding protein acid labile subuni... OMIM:619489
Diffuse Alveolar Hemorrhage
Thrombocytopenia, Leukocytosis, Anemia, Weight loss ORPHA:90060
Ciliary Dyskinesia, Primary, 22
Recurrent respiratory infections, Bronchiectasis, Absent inner and outer dynein arms, Rhinitis, I... OMIM:615444
Mandibuloacral Dysplasia With Type B Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Decreased adipose tissue around neck, Hyperlipidemi... OMIM:608612
Ciliary Dyskinesia, Primary, 9
Male infertility, Pneumonia, Absent outer dynein arms, Bronchiectasis, Recurrent sinusitis, Chron... OMIM:612444
Sitosterolemia 1
Reticulocytosis, Thrombocytopenia, Splenomegaly, Giant platelets, Stomatocytosis, Episodic hemoly... OMIM:210250
Congenital Disorder Of Glycosylation, Type Iil
Death in infancy, Pancytopenia, Hepatomegaly, Splenomegaly, Cholestasis, Cirrhosis, Failure to th... OMIM:614576
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Methemoglobinemia, Polycythemia, Opisthotonus OMIM:250800
Fanconi Anemia, Complementation Group F
Decreased response to growth hormone stimulation test, Cryptorchidism, Anemia, Leukopenia, Bone m... OMIM:603467
Braddock-Carey Syndrome 2
Thrombocytopenia OMIM:619981
Immunodeficiency, Common Variable, 12, With Autoimmunity
Autoimmune hemolytic anemia, Thrombocytopenia OMIM:616576
Ifap Syndrome 2
Keratitis, Posterior blepharitis, Keratoconjunctivitis sicca, Angular cheilitis OMIM:619016
Spermatogenic Failure 28
Male infertility, Elevated circulating luteinizing hormone level, Non-obstructive azoospermia, El... OMIM:618086
Fanconi Anemia, Complementation Group E
Pancytopenia, Small for gestational age, Hypergonadotropic hypogonadism, Cryptorchidism, Reticulo... OMIM:600901
Perlman Syndrome
Femoral hernia, Hyperinsulinemia, Inguinal hernia ORPHA:2849
Kimura Disease
Lymphadenopathy, Abnormal salivary gland morphology, Eosinophilia, Follicular hyperplasia ORPHA:482
Dyskeratosis Congenita, Autosomal Dominant 3
Pancytopenia, Aplastic anemia, Cryptorchidism, Leukopenia, Bone marrow hypocellularity, Thrombocy... OMIM:613990
Erythrocytosis, Familial, 3
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin OMIM:609820
Pediatric-Onset Graves Disease
Hepatomegaly, Puberty and gonadal disorders, Splenomegaly, Thyrotoxicosis with diffuse goiter, In... ORPHA:525731
Immunodeficiency 12
Skin rash, Abnormal lymphocyte count, Recurrent viral infections, Bronchiectasis, Cheilitis, Recu... OMIM:615468
Bone Marrow Failure Syndrome 6
Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia, Lymphopenia, Hypothy... OMIM:618849
Wolfram Syndrome 1
Sideroblastic anemia, Diabetes mellitus, Diabetes insipidus, Megaloblastic anemia, Hypothyroidism... OMIM:222300
Griscelli Syndrome Type 2
Hepatomegaly, Pancytopenia, Splenomegaly, Jaundice, Lymphadenopathy, Hemophagocytosis, Neutropenia ORPHA:79477
Omenn Syndrome
Hepatomegaly, Failure to thrive, Eosinophilia, Splenomegaly, Leukocytosis, Thyroiditis, Lymphaden... ORPHA:39041
Congenital Enterovirus Infection
Abnormal macrophage morphology, Leukocytosis, Hepatitis, Cholestasis, Anemia, Leukopenia, Neutrop... ORPHA:292
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Hypoplasia of penis, Ambiguous genitalia, Recurrent urinary tract infections, Abnormal hemoglobin... ORPHA:847
Castleman Disease
Generalized lymphadenopathy, Follicular hyperplasia, Mediastinal lymphadenopathy, Jaundice, Weigh... ORPHA:160
Cornelia De Lange Syndrome
Hypoplasia of penis, Hypospadias, Congenital diaphragmatic hernia, Curly eyelashes, Highly arched... ORPHA:199
Quebec Platelet Disorder
Menorrhagia, Thrombocytopenia, Impaired epinephrine-induced platelet aggregation OMIM:601709
Immunodeficiency 60 And Autoimmunity
Splenomegaly, Pancytopenia, Decreased proportion of memory B cells, Decreased basophil count OMIM:618394
Diamond-Blackfan Anemia 5
Macrocytic anemia, Hypospadias, Erythroid hypoplasia, Reticulocytopenia, Leukopenia OMIM:612528
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Sideroblastic anemia, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, B lymphocytopenia OMIM:616084
Kaposiform Lymphangiomatosis
Metrorrhagia, Pancreatic cysts, Splenomegaly, Abnormality of the lymphatic system, Hepatosplenome... ORPHA:464329
Immunodeficiency 47
Normocytic anemia, Accessory spleen, Death in infancy, Hepatomegaly, Hepatic bridging fibrosis, S... OMIM:300972
Hereditary Methemoglobinemia
Small for gestational age, Athetosis, Methemoglobinemia, Limb dystonia ORPHA:621
Immunodeficiency 108 With Autoinflammation
Hyposegmentation of neutrophil nuclei, Recurrent aphthous stomatitis, Recurrent abscess formation... OMIM:260570
Dyskeratosis Congenita, Autosomal Dominant 1
Aplastic anemia, Hepatic necrosis, Anemia, Leukopenia, Increased mean corpuscular volume, Bone ma... OMIM:127550
Schimke Immuno-Osseous Dysplasia
Failure to thrive, Small for gestational age, Abnormality of thyroid physiology, Thrombocytopenia... ORPHA:1830
Von Willebrand Disease, Type 3
Impaired platelet aggregation, Menorrhagia, Thrombocytopenia OMIM:277480
Cockayne Syndrome Type 1
Foot joint contracture, Scarring, Tremor, Increased blood urea nitrogen, Male hypogonadism, Ename... ORPHA:90321
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Perianal abscess, Iron deficiency anemia, Lymphocytosis, Thrombocytosis, Reduced natural killer c... OMIM:301074
Beemer-Ertbruggen Syndrome
Ambiguous genitalia, Cryptorchidism, Thrombocytopenia ORPHA:1237
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Recurrent respiratory infections, Osteomyelitis, Recurrent skin infections, Eosinophilia, Eczema,... OMIM:618282
Hypoglossia With Situs Inversus
Asplenia, Polysplenia OMIM:612776
Pediatric Systemic Lupus Erythematosus
Lymphadenopathy, Leukopenia, Microangiopathic hemolytic anemia, Lymphopenia, Thrombocytopenia ORPHA:93552
Hermansky-Pudlak Syndrome 5
Absent platelet dense granules, Metrorrhagia, Impaired ADP-induced platelet aggregation, Menorrha... OMIM:614074
Ebola Hemorrhagic Fever
Acute pancreatitis, Hepatitis, Leukopenia, Lymphopenia, Thrombocytopenia ORPHA:319218
Dengue Fever
Leukopenia, Thrombocytopenia, Hepatomegaly ORPHA:99828
Methylmalonic Aciduria, Cblb Type
Hepatomegaly, Pancytopenia, Anemia, Neutropenia, Failure to thrive, Thrombocytopenia OMIM:251110
Immunodeficiency 11B With Atopic Dermatitis
Eosinophilia, Pneumonia, Increased circulating IgE level, Atopic dermatitis, Bronchiectasis, Ulce... OMIM:617638
Platelet Disorder, Familial, With Associated Myeloid Malignancy
Acute myeloid leukemia, Acute monocytic leukemia, Impaired platelet aggregation, Abnormal dense g... OMIM:601399
Shwachman-Diamond Syndrome 2
Normocytic anemia, Death in infancy, Hepatomegaly, Neutropenia, Death in childhood, Hyperechogeni... OMIM:617941
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections
Recurrent respiratory infections, Eosinophilia, Eczema, Keratitis, Increased circulating IgE leve... OMIM:618523
Desmoplastic Small Round Cell Tumor
Neoplasm of the pancreas, Hepatomegaly, Abnormal peritoneum morphology, Cachexia, Testicular neop... ORPHA:83469
Fanconi Anemia, Complementation Group C
Pancytopenia, Small for gestational age, Hypergonadotropic hypogonadism, Cryptorchidism, Reticulo... OMIM:227645
Shwachman-Diamond Syndrome
Normocytic anemia, Transient neutropenia, Aplastic anemia, Sinusitis, Decreased response to growt... ORPHA:811
Mucopolysaccharidosis-Plus Syndrome
Hepatomegaly, Splenomegaly, Anemia, Leukopenia, Death in childhood, Bone marrow hypocellularity, ... OMIM:617303
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant
Impaired platelet aggregation, Macrothrombocytopenia OMIM:613112
Ciliary Dyskinesia, Primary, 5
Recurrent respiratory infections, Recurrent pneumonia, Bronchiectasis, Recurrent sinusitis, Chron... OMIM:608647
Erythrocytosis, Familial, 6
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:617980
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Leukocytosis, Hypothyroidism, Hashimoto thyroiditis, Thrombocytopenia, Goiter ORPHA:83601
Intellectual Developmental Disorder With Speech Delay, Dysmorphic Facies, And T-Cell Abnormalities
Epicanthus, Eosinophilia, Recurrent infections, Thin eyebrow, Abnormally low T cell receptor exci... OMIM:618092
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Nonketotic hypoglycemia, Increased circulating free fatty acid level, Large for gestational age, ... ORPHA:293964
Shwachman-Diamond Syndrome 1
Acute myeloid leukemia, Hepatomegaly, Pancytopenia, Small for gestational age, Persistence of hem... OMIM:260400
Ficolin 3 Deficiency
Recurrent Staphylococcus aureus infections, Recurrent lower respiratory tract infections, Recurre... OMIM:613860
Pseudo-Torch Syndrome 1
Hepatomegaly, Splenomegaly, Jaundice, Failure to thrive, Thrombocytopenia OMIM:251290
Osteopetrosis, Autosomal Recessive 5
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Hypochromic... OMIM:259720
Autoinflammatory Disease, Systemic, X-Linked
Neutropenia, B lymphocytopenia, Hepatosplenomegaly OMIM:301081
X-Linked Severe Congenital Neutropenia
Monocytopenia, Neutropenia ORPHA:86788
Beta-Thalassemia Intermedia
Hypoparathyroidism, Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia of inadequate... ORPHA:231222
Gaucher Disease, Type Ii
Death in infancy, Hepatomegaly, Splenomegaly, Anemia, Failure to thrive, Thrombocytopenia OMIM:230900
Acute Radiation Syndrome
Lymphopenia, Granulocytopenia, Thrombocytopenia ORPHA:454831
Dehydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Cholelithiasis, Anemia of inadequate produc... ORPHA:3202
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Decreased proportion of CD4-positive helper T cells, Reduced natural killer cell count, B lymphoc... ORPHA:221139
Sepsis In Premature Infants
Hepatomegaly, Small for gestational age, Splenomegaly, Leukocytosis, Jaundice, Anemia, Neutropeni... ORPHA:90051
Juvenile Xanthogranuloma
Iritis, Blepharitis, Myeloproliferative disorder, Uveitis ORPHA:158000
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia
Poikilocytosis, Congenital thrombocytopenia, Anemia of inadequate production, Acanthocytosis OMIM:300367
Combined Oxidative Phosphorylation Deficiency 14
Death in infancy, Copper accumulation in liver, Anemia, Death in childhood, Elevated hepatic iron... OMIM:614946
Platelet Disorder, Undefined
Impaired platelet aggregation, Thrombocytopenia OMIM:173420
Indolent Systemic Mastocytosis
Maculopapular exanthema, Skin rash, Splenomegaly, Increased proportion of CD25+ mast cells, Masto... ORPHA:98848
Avian Influenza
Miscarriage, Hepatitis, Leukopenia, Lymphopenia, Thrombocytopenia ORPHA:454836
Smith-Kingsmore Syndrome
Cryptorchidism, Thrombocytopenia, Large for gestational age OMIM:616638
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Abnormality of the endocrine system, Ne... ORPHA:391487
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome
Aplasia of the thymus ORPHA:3004
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Hepatomegaly, Pancytopenia, Small for gestational age, Megaloblastic anemia, Anemia, Neutropenia,... OMIM:277380
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Accessory spleen, Severe B lymphocytopenia, Portal hypertension, Cryptorchidism, Macronodular cir... OMIM:620005
Vici Syndrome
Lymphopenia, Failure to thrive, Recurrent respiratory infections, Ptosis, Epicanthus, Recurrent v... OMIM:242840
Donohue Syndrome
Precocious puberty, Adipose tissue loss, Hyperinsulinemia, Severe failure to thrive, Pancreatic i... OMIM:246200
Kasabach-Merritt Syndrome
Reticulocytosis, Thrombocytopenia, Abnormal lymphatic vessel morphology, Leukopenia, Hepatic hema... ORPHA:2330
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Abnormal circulating acylcarnitine concentration, Increased circulating free fatty acid level, Fa... ORPHA:71212
Combined Immunodeficiency-Enteropathy Spectrum
Autoimmune hemolytic anemia, Hepatitis, Rectal abscess, Hypoplasia of the thymus, Type I diabetes... ORPHA:436252
Atopic Keratoconjunctivitis
Abnormal eyelid morphology, Keratitis, Loss of eyelashes, Keratoconjunctivitis sicca, Chemosis, B... ORPHA:163934
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Lymphadenop... OMIM:616100
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Death in infancy, Giant cell hepatitis, Small for gestational age, Nephrogenic diabetes insipidus... OMIM:208085
Erythrocytosis, Familial, 7
Increased hematocrit, Polycythemia OMIM:617981
Juvenile Temporal Arteritis
Allergic rhinitis, Leukocytosis, Conjunctivitis, Eosinophilia ORPHA:26137
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Thrombocytopenia, Increased mean platelet volume OMIM:300048
Necrotizing Enterocolitis
Small for gestational age, Leukocytosis, Peritonitis, Neutropenia, Thrombocytopenia ORPHA:391673
Mandibuloacral Dysplasia With Type A Lipodystrophy
Calcinosis, Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Im... OMIM:248370
Complement Component 3 Deficiency, Autosomal Recessive
Recurrent bacterial infections, Recurrent pneumonia, Membranoproliferative glomerulonephritis, Re... OMIM:613779
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Hepatomegaly, Small for gestational age, Hypospadias, Cryptorchidism, Leukopenia, Micropenis, Thr... OMIM:301056
Coccidioidomycosis
Abnormality of the spleen, Increased circulating IgG level, Morbilliform rash, Abnormality of the... ORPHA:228123
Gaisböck Syndrome
Diabetes mellitus, Overweight, Splenomegaly, Increased mean corpuscular hemoglobin concentration,... ORPHA:90041
Estrogen Resistance
Increased circulating osteocalcin level, Impaired glucose tolerance, Hyperinsulinemia, Increased ... OMIM:615363
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Splenomegaly, Pancytopenia, Hemophagocytosis, Anemia OMIM:618398
Congenital Bilateral Absence Of Vas Deferens
Male infertility, Absent vas deferens, Obstructive azoospermia, Oligozoospermia ORPHA:48
Holocarboxylase Synthetase Deficiency
Thrombocytopenia, Weight loss ORPHA:79242
Lysinuric Protein Intolerance
Hepatomegaly, Splenomegaly, Anemia, Leukopenia, Truncal obesity, Hemophagocytosis, Failure to thr... OMIM:222700
Alg8-Cdg
Thrombocytopenia, Failure to thrive, Small for gestational age, Anemia ORPHA:79325
Thymoma
Myositis, Aplastic anemia, Glomerulonephritis, Pure red cell aplasia, Imbalanced hemoglobin synth... ORPHA:99867
Cinca Syndrome
Skin rash, Eosinophilia, Leukocytosis, Uveitis, Hepatosplenomegaly, Arthritis, Meningitis, Anemia OMIM:607115
Immune Thrombocytopenia
Thrombocytopenia ORPHA:3002
Pearson Marrow-Pancreas Syndrome
Sideroblastic anemia, Pancytopenia, Failure to thrive, Small for gestational age, Pancreatic fibr... OMIM:557000
Hb Bart'S Hydrops Fetalis
Splenomegaly, Abnormal hemoglobin, Anemia ORPHA:163596
Gaucher Disease, Perinatal Lethal
Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Anemia, Decreased body weight, Neonatal death, Th... OMIM:608013
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hepatomegaly, Portal hypertension, Splenomegaly, Micronodular cirrhosis, Jaundice, Depletion of m... OMIM:251880
Familial Renal Glucosuria
Elevated hemoglobin A1c, Insulin resistance, Abnormal circulating insulin concentration, Glycosur... ORPHA:69076
Lethal Congenital Contracture Syndrome 10
Hypoplasia of the thymus OMIM:617022
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Failure to thrive, Severe B lymphocytopenia, Decreased circulating cortisol level, Decreased resp... ORPHA:293978
Mitochondrial Complex I Deficiency, Nuclear Type 20
Death in infancy, Microvesicular hepatic steatosis, Thrombocytopenia, Death in childhood OMIM:611126
Brucellosis
Hepatomegaly, Liver abscess, Small for gestational age, Lung abscess, Miscarriage, Hypersplenism,... ORPHA:1304
Orthostatic Hypotension 1
Reduced circulating prolactin concentration, Hypomagnesemia, Neonatal hypoglycemia, Increased blo... OMIM:223360
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Hypoparathyroidism, Premature ovarian insufficiency, Female hypogonadism, Cholelithiasis, Decreas... OMIM:240300
Cystic Echinococcosis
Invasive parasitic infection, Abscess, Abnormality of the testis size, Eosinophilia, Unusual infe... ORPHA:400
Immunodeficiency 35
Recurrent respiratory infections, Recurrent viral infections, Recurrent mycobacterial infections,... OMIM:611521
Bleeding Disorder, Platelet-Type, 17
Increased RBC distribution width, Macrothrombocytopenia, Absence of alpha granules, Impaired coll... OMIM:187900
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Hypoparathyroidism, Aplasia of the thymus, Decreased response to growth hormone stimulation test,... OMIM:618223
Kikuchi-Fujimoto Disease
Hepatomegaly, Generalized lymphadenopathy, Splenomegaly, Cervical lymphadenopathy, Weight loss, A... ORPHA:50918
Methylmalonic Aciduria, Cbla Type
Hepatomegaly, Pancytopenia, Anemia, Neutropenia, Failure to thrive, Thrombocytopenia OMIM:251100
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Arthritis, Lymphopenia, Eosinophilia ORPHA:2582
Lipodystrophy, Congenital Generalized, Type 2
Reduced subcutaneous adipose tissue, Hypertriglyceridemia, Lipodystrophy, Elevated hemoglobin A1c... OMIM:269700
Neutropenia, Severe Congenital, 8, Autosomal Dominant
Short stature, Neutropenia OMIM:618752
Zika Virus Disease
Miscarriage, Thrombocytopenia ORPHA:448237
Autoimmune Lymphoproliferative Syndrome
Thyroid carcinoma, Lymphocytosis, Increased B cell count, Elevated proportion of CD4-negative, CD... ORPHA:3261
Meige Disease
Lymph node hypoplasia, Absence of lymph node germinal center ORPHA:90186
Bangstad Syndrome
Abnormality of the parathyroid gland, Hyperinsulinemia, Increased circulating cortisol level, Pri... ORPHA:1227
Spermatogenic Failure, X-Linked, 4
Male infertility, Elevated circulating luteinizing hormone level, Abnormal prolactin level, Azoos... OMIM:301077
Primary Familial Polycythemia
Polycythemia, Abnormal hemoglobin ORPHA:90042
Fanconi Anemia, Complementation Group B
Death in infancy, Hypergonadotropic hypogonadism, Aplastic anemia, Hypogonadism, Micropenis, Thro... OMIM:300514
Hereditary Amyloidosis With Primary Renal Involvement
Male infertility, Hepatomegaly, Primary testicular failure, Weight loss, Hepatosplenomegaly, Olig... ORPHA:85450
Spermatogenic Failure 14
Male infertility, Azoospermia, Elevated circulating follicle stimulating hormone level, Abnormal ... OMIM:615842
Immunodeficiency 89 And Autoimmunity
Increased circulating IgA level, Increased circulating IgE level, Bronchiectasis, Hypochromic mic... OMIM:619632
Renal-Hepatic-Pancreatic Dysplasia 2
Hepatomegaly, Malformation of the hepatic ductal plate, Asplenia, Cholestasis, Stillbirth, Hepati... OMIM:615415
Paroxysmal Nocturnal Hemoglobinuria
Hemolytic anemia, Reticulocytosis, Pancytopenia, Decreased serum iron, Abnormal erythrocyte enzym... ORPHA:447
Adams-Oliver Syndrome
Portal hypertension, Congenital hepatic fibrosis, Leukopenia, Cirrhosis, Failure to thrive, Throm... ORPHA:974
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility
Chronic otitis media, Chronic sinusitis, Polysplenia, Reduced progressive sperm motility OMIM:619608
Retinitis Pigmentosa 82 With Or Without Situs Inversus
Recurrent infections, Bronchiectasis, Reduced sperm motility OMIM:615434
Overlap Myositis
Leukopenia, Diabetes mellitus, Thrombocytopenia ORPHA:206572
Spondyloenchondrodysplasia With Immune Dysregulation
Autoimmune thrombocytopenia, Lymphadenopathy, T lymphocytopenia, Neutropenia, Lymphopenia, Hypoth... OMIM:607944
Caroli Syndrome
Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Hypersplenism,... ORPHA:480520
Tempi Syndrome
Increased hematocrit, Polycythemia ORPHA:284227
Aicardi-Goutieres Syndrome 1
Hepatomegaly, Diabetes insipidus, Splenomegaly, Prolonged neonatal jaundice, Hypothyroidism, Thro... OMIM:225750
Abcd Syndrome
Neonatal death, Polycythemia, Large for gestational age OMIM:600501
Autoimmune Polyendocrine Syndrome, Type Ii
Hyperthyroidism, Asplenia, Primary adrenal insufficiency, Hepatitis, Thymoma, Chronic hepatitis, ... OMIM:269200
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Chronic neutropenia, Irregular menstruation, Enterocolitis, Gout, Polycystic ovaries, Ulcerative ... ORPHA:79259
Ichthyosis-Prematurity Syndrome
Eosinophilia ORPHA:88621
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Cholelithiasis, Normochromic anemia, Small for gestational age, Thrombocytopenia OMIM:618775
Lipodystrophy, Congenital Generalized, Type 4
Hypertriglyceridemia, Lipodystrophy, Elevated circulating creatine kinase concentration, Splenome... OMIM:613327
Snakebite Envenomation
Hypopituitarism, Thrombocytopenia ORPHA:449285
Alstrom Syndrome
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hypergonadotropic hypogonadism, De... OMIM:203800
Multiple Endocrine Neoplasia Type 4
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemia, Elevated cir... ORPHA:276152
Cutis Laxa, Autosomal Recessive, Type Ic
Accessory spleen, Death in infancy, Adrenal hypoplasia, Hypoplasia of the thymus, Death in childhood OMIM:613177
Mpi-Cdg
Hypothyroidism, Failure to thrive, Hypoalbuminemia, Hyperinsulinemic hypoglycemia ORPHA:79319
Treacher-Collins Syndrome
Hypoplasia of penis, Small scrotum, Cryptorchidism, Abnormality of the adrenal glands, Hypoplasia... ORPHA:861
Fanconi Anemia, Complementation Group D2
Pancytopenia, Small for gestational age, Hypergonadotropic hypogonadism, Cryptorchidism, Annular ... OMIM:227646
Estrogen Resistance Syndrome
Increased circulating gonadotropin level, Absence of secondary sex characteristics, Hyperinsuline... ORPHA:785
Say-Barber-Miller Syndrome
Eczema, Highly arched eyebrow, Sparse eyebrow, Cryptorchidism, Erythema nodosum, Transient hypoga... ORPHA:3132
Common Variable Immunodeficiency
Hemolytic anemia, Failure to thrive in infancy, Autoimmune thrombocytopenia, Splenomegaly, Lympha... ORPHA:1572
Ciliary Dyskinesia, Primary, 19
Male infertility, Recurrent respiratory infections, Bronchiectasis, Absent inner and outer dynein... OMIM:614935
Ciliary Dyskinesia With Defective Radial Spokes
Sinusitis, Absent respiratory ciliary axoneme radial spokes, Chronic rhinitis, Immotile sperm OMIM:242670
Immunodeficiency 31B
Recurrent mycobacterial infections, Herpes simplex encephalitis, Recurrent viral infections OMIM:613796
Digeorge Syndrome
Hepatic steatosis, Parathyroid agenesis, Decreased circulating parathyroid hormone level, Splenom... OMIM:188400
Acquired Purpura Fulminans
Thrombocytopenia ORPHA:49566
Igg4-Related Retroperitoneal Fibrosis
Normocytic anemia, Elevated circulating C-reactive protein concentration, Elevated circulating cr... ORPHA:49041
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1
Amegakaryocytic thrombocytopenia, Aplastic anemia, Congenital thrombocytopenia OMIM:605432
Partial Androgen Insensitivity Syndrome
Bifid scrotum, Fused labia majora, Male infertility, Clitoral hypertrophy, Hypospadias, Elevated ... ORPHA:90797
Roifman Syndrome
Hip contracture, Eosinophilia, Eczema, Splenomegaly, Recurrent pneumonia, Prominent eyelashes, Lo... OMIM:616651
46,Xy Partial Gonadal Dysgenesis
Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Micropenis, Ovarian gonadoblasto... ORPHA:251510
Q Fever
Hepatomegaly, Splenomegaly, Hepatitis, Weight loss, Anemia, Hepatosplenomegaly, Lymphadenopathy, ... ORPHA:781
Adenosine Triphosphate, Elevated, Of Erythrocytes
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia OMIM:102900
Myeloproliferative Disorder, Chronic, With Eosinophilia
Eosinophilia, Myeloproliferative disorder OMIM:131440
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency
Tegumentary leishmaniasis susceptibility, Pneumonia, Recurrent mycobacterial infections, BCGosis,... ORPHA:319552
Ivic Syndrome
Leukocytosis, Rectovaginal fistula, Thrombocytopenia ORPHA:2307
Braddock-Carey Syndrome 1
Thrombocytopenia OMIM:619980
Acquired Generalized Lipodystrophy
Hypertriglyceridemia, Insulin-resistant diabetes mellitus, Insulin resistance, Hyperinsulinemia, ... ORPHA:79086
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures
Thrombocytopenia OMIM:617710
Subcutaneous Panniculitis-Like T-Cell Lymphoma
Weight loss, Hemophagocytosis, Hepatosplenomegaly ORPHA:86884
Farber Disease
Intrahepatic cholestasis with episodic jaundice, Lymphadenopathy, Anemia, Hepatosplenomegaly, Hep... ORPHA:333
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked
Male infertility, Azoospermia, Absent vas deferens OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of
Male infertility, Azoospermia, Absent vas deferens OMIM:277180
Late-Onset Isolated Acth Deficiency
Normocytic anemia, Hypoparathyroidism, Macrocytic anemia, Premature ovarian insufficiency, Eosino... ORPHA:199299
3-Methylglutaconic Aciduria, Type Viib
Leukopenia, Hepatic steatosis, Thrombocytopenia, Neutropenia OMIM:616271
Dyskeratosis Congenita, Autosomal Recessive 5
Postnatal growth retardation, Leukopenia, Intrauterine growth retardation OMIM:615190
Immunodeficiency 31A
Herpes simplex encephalitis, Recurrent mycobacterium avium complex infections, BCGitis, Recurrent... OMIM:614892
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Neutrophilia, Failure to thrive in infancy, Leukocytosis, Lymphadenopathy, Increased proportion o... OMIM:617099
Nijmegen Breakage Syndrome
Autoimmune hemolytic anemia, Premature ovarian insufficiency, T lymphocytopenia, B lymphocytopeni... OMIM:251260
Diamond-Blackfan Anemia
Acute myeloid leukemia, Small for gestational age, Hypospadias, Pure red cell aplasia, Erythroid ... ORPHA:124
22Q11.2 Deletion Syndrome
Hypoparathyroidism, Hyperthyroidism, Hypospadias, Abnormality of the tonsils, Abnormality of thro... ORPHA:567
Netherton Syndrome
Decreased circulating IgG level, Recurrent respiratory infections, Recurrent skin infections, Ecz... OMIM:256500
Shigellosis
Failure to thrive in infancy, Abscess, Leukocytosis, Peritonitis, Cholestasis, Microangiopathic h... ORPHA:810
Ciliary Dyskinesia, Primary, 1
Asplenia, Absent outer dynein arms, Male infertility OMIM:244400
Renal-Hepatic-Pancreatic Dysplasia 1
Hepatomegaly, Pancreatic fibrosis, Portal hypertension, Malformation of the hepatic ductal plate,... OMIM:208540
Neonatal Inflammatory Skin And Bowel Disease
Chapped lip, Recurrent bacterial skin infections, Psoriasiform dermatitis, Pustule, Horizontal ey... ORPHA:294023
Polyendocrine-Polyneuropathy Syndrome
Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Hypoglycemia, Decreased circulating... ORPHA:453533
Leukonychia Totalis
Abnormal eyelash morphology, Adenoma sebaceum, Blepharitis ORPHA:2387
Beta-Thalassemia Major
Hypoparathyroidism, Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentra... ORPHA:231214
Hypereosinophilic Syndrome, Idiopathic
Myeloproliferative disorder, Splenomegaly, Eosinophilia OMIM:607685
Noonan Syndrome 4
Cryptorchidism, Thrombocytopenia, Large for gestational age OMIM:610733
Complete Androgen Insensitivity Syndrome
Male infertility, Acne, Abnormal uterine cervix morphology, Testicular neoplasm, Elevated circula... ORPHA:99429
47,Xyy Syndrome
Male infertility, Hypospadias, Cryptorchidism, Increased circulating gonadotropin level, Oligozoo... ORPHA:8
Focal Facial Dermal Dysplasia Type Iv
Abnormal mast cell morphology, Scarring ORPHA:398189
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Decreased hemoglobin concentration, Hepatomegaly, Cryptorchidism, Death in childhood, Micropenis,... OMIM:619005
Postinfectious Vasculitis
Severe varicella zoster infection, Recurrent candida infections, Gastrointestinal inflammation, B... ORPHA:48435
Congenital Disorder Of Glycosylation, Type Iig
Failure to thrive in infancy, Hypospadias, Cryptorchidism, Giant platelets, Anemia, Thrombocytopenia OMIM:611209
Lipodystrophy, Congenital Generalized, Type 1
Reduced subcutaneous adipose tissue, Diabetes mellitus, Hypertriglyceridemia, Lipodystrophy, Decr... OMIM:608594
Immunodeficiency 33
Pneumocystis jirovecii pneumonia, Increased circulating IgA level, Decreased circulating total Ig... OMIM:300636
Dyskeratosis Congenita, Autosomal Recessive 1
Pancytopenia, Aplastic anemia, Hepatic fibrosis, Bone marrow hypocellularity, Thrombocytopenia OMIM:224230
Hypocomplementemic Urticarial Vasculitis
Episcleritis, Skin rash, Splenomegaly, Uveitis, Inflammatory abnormality of the eye, Recurrent ba... ORPHA:36412
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Decreased response to growth hormone stimulation test, Cryptorchidism, Recurrent bacterial infect... OMIM:241410
Immunodeficiency 82 With Systemic Inflammation
Decreased proportion of naive T cells, Follicular hyperplasia, Splenomegaly, Hepatitis, Weight lo... OMIM:619381
Thrombocytopenia 6
Thrombocytopenia OMIM:616937
Catastrophic Antiphospholipid Syndrome
Coombs-positive hemolytic anemia, Miscarriage, Microangiopathic hemolytic anemia, Thrombocytopenia ORPHA:464343
Tangier Disease
Orange discolored tonsils, Chronic noninfectious lymphadenopathy, Hepatosplenomegaly, Anemia, Thr... ORPHA:31150
Immunodeficiency 87 And Autoimmunity
Decreased proportion of CD4-positive T cells, Hemolytic anemia, Lymphopenia, Autoimmune hemolytic... OMIM:619573
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Eczema, Splenomegaly, Leukocytosis, Lymphadenitis, Recurrent bacterial infections, Inflammation o... OMIM:615895
Stevens-Johnson Syndrome
Dyspareunia, Recurrent respiratory infections, Entropion, Abnormality of neutrophils, Thrombocyto... ORPHA:36426
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Bifid scrotum, Bilateral cryptorchidism, Blind vagina, Ambiguous genitalia, male, Male hypogonadi... ORPHA:90793
Idiopathic Hypereosinophilic Syndrome
Neutrophilia, Generalized lymphadenopathy, Eosinophilia, Cholangitis, Thrombocytopenia, Leukocyto... ORPHA:3260
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Hypochromic microcytic anemia, Thrombocytopenia ORPHA:3240
Vexas Syndrome
Macrocytic anemia, Thrombocytopenia OMIM:301054
Autoinflammation With Arthritis And Dyskeratosis
Autoimmune hemolytic anemia, Increased circulating IgA level, Splenomegaly, Hypereosinophilia, Th... OMIM:617388
Igg4-Related Ophthalmic Disease
Sinusitis, Cholangitis, Abnormal morphology of bony orbit of skull, Abnormal eyelid morphology, A... ORPHA:449563
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Epicanthus, Hypospadias, Cryptorchidism, Reduced alpha/beta synthesis ratio, Hypochromic microcyt... OMIM:301040
Nevoid Hypermelanosis, Linear And Whorled
Eosinophilia OMIM:614323
Fraser Syndrome 2
Ambiguous genitalia, Hypoplasia of the thymus OMIM:617666
Felty Syndrome
Splenomegaly, Neutropenia OMIM:134750
Mogs-Cdg
Hepatomegaly, External genital hypoplasia, Hepatosplenomegaly, Hydrocele testis, Inappropriate an... ORPHA:79330
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Hiatus hernia, Overweight, Recurrent upper respiratory tract infections, Recurrent pneumonia, Per... OMIM:619769
Leukocyte Adhesion Deficiency, Type I
Recurrent gram-negative bacterial infections, Osteomyelitis, Recurrent staphylococcal infections,... OMIM:116920
Blue Rubber Bleb Nevus
Iron deficiency anemia, Abnormality of the liver, Thrombocytopenia OMIM:112200
Kenny-Caffey Syndrome, Type 1
Recurrent bacterial infections, Congenital hypoparathyroidism, Anemia OMIM:244460
Complement Factor H Deficiency
Recurrent bacterial infections OMIM:609814
Diamond-Blackfan Anemia 6
Persistence of hemoglobin F, Failure to thrive, Macrocytic anemia, Increased mean corpuscular volume OMIM:612561
Combined Oxidative Phosphorylation Deficiency 40
Neonatal death, Intrauterine growth retardation, Anemia, Death in infancy OMIM:618835
Combined Oxidative Phosphorylation Deficiency 42
Neonatal death, Intrauterine growth retardation, Anemia, Death in infancy OMIM:618839
Acyl-Coa Dehydrogenase 9 Deficiency
Failure to thrive, Hepatic steatosis, Thrombocytopenia ORPHA:99901
46,Xy Sex Reversal 4
Hypergonadotropic hypogonadism, Elevated circulating creatinine concentration, Increased blood ur... OMIM:154230
Deeah Syndrome
Decreased hemoglobin concentration, Death in infancy, Hepatomegaly, Decreased response to growth ... OMIM:619004
Cardiofacioneurodevelopmental Syndrome
Asplenia, Cryptorchidism, Abdominal situs inversus OMIM:619123
Uremic Pruritus
Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Increased blood urea nitrogen ORPHA:94059
Pseudo-Torch Syndrome 2
Hepatomegaly, Thrombocytopenia OMIM:617397
Diamond-Blackfan Anemia 21
Erythroid hypoplasia, Thrombocytopenia, Obesity, Anemia OMIM:620072
Autoinflammation, Immune Dysregulation, And Eosinophilia
Eosinophilia, Recurrent viral infections, Atopic dermatitis, Hepatosplenomegaly, Membranous nephr... OMIM:618999
45,X/46,Xy Mixed Gonadal Dysgenesis
Bifid scrotum, Bilateral cryptorchidism, Epispadias, Ambiguous genitalia, female, Ambiguous genit... ORPHA:1772
Rabson-Mendenhall Syndrome
Increased pineal volume, Reduced subcutaneous adipose tissue, Impaired glucose tolerance, Precoci... ORPHA:769
16Q24.3 Microdeletion Syndrome
Cryptorchidism, Increased mean corpuscular volume, Thrombocytopenia ORPHA:261250
Lathosterolosis
Hepatomegaly, Hypoplasia of penis, Intrahepatic cholestasis, Anisopoikilocytosis, Abnormal platel... ORPHA:46059
Immunodeficiency 67
Liver abscess, Transient neutropenia, Recurrent staphylococcal infections, Increased circulating ... OMIM:607676
Muckle-Wells Syndrome
Episcleritis, Skin rash, Camptodactyly of finger, Splenomegaly, Uveitis, Arthritis, Conjunctiviti... ORPHA:575
Poems Syndrome
Diabetes mellitus, Abnormality of the endocrine system, Hypothyroidism, Primary adrenal insuffici... ORPHA:2905
Aspergillosis
Sinusitis, Osteomyelitis, Eosinophilia, Pneumonia, Keratitis, Meningitis, Dacryocystitis, Increas... ORPHA:1163
Osteopetrosis With Renal Tubular Acidosis
Hepatomegaly, Pancytopenia, Enlarged tonsils, Anemia, Leukopenia, Elliptocytosis, Bone marrow hyp... ORPHA:2785
Eosinophilic Gastroenteritis
Allergic rhinitis, Eosinophilia, Leukocytosis, Atopic dermatitis, Weight loss, Anemia ORPHA:2070
X-Linked Acrogigantism
Decreased thyroid-stimulating hormone level, Enlarged pituitary gland, Diabetes insipidus, Elevat... ORPHA:300373
Wiskott-Aldrich Syndrome
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m... OMIM:301000
Recon Progeroid Syndrome
Thrombocytopenia, Anemia OMIM:620370
Systemic Lupus Erythematosus
Leukopenia, Hemolytic anemia, Thrombocytopenia, Lymphadenopathy ORPHA:536
Cushing Disease
Adrenal hyperplasia, Dorsocervical fat pad, Acne, Pituitary corticotropic cell adenoma, Leukocyto... ORPHA:96253
Alg12-Cdg
Decreased serum insulin-like growth factor 1, Hypospadias, Cryptorchidism, B lymphocytopenia, Mic... ORPHA:79324
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Failure to thrive, Neutropenia, Thrombocytopenia, Megaloblastic anemia OMIM:277400
Hellp Syndrome
Hemolytic anemia, Decreased mean corpuscular hemoglobin concentration, Increased body weight, Mic... ORPHA:244242
Gaucher Disease Type 3
Hepatomegaly, Pancytopenia, Splenomegaly, Anemia, Delayed puberty, Thrombocytopenia ORPHA:77261
Lujo Hemorrhagic Fever
Leukocytosis, Fulminant hepatitis, Leukopenia, Lymphopenia, Thrombocytopenia ORPHA:319213
Aicardi-Goutieres Syndrome 7
Hemolytic anemia, Pancytopenia, Generalized lymphadenopathy, Hepatic steatosis, Hepatomegaly, Spl... OMIM:615846
Monosomy 22
Micropenis, Aplasia of the thymus, Hypochromic microcytic anemia, Hepatosplenomegaly ORPHA:96123
Toxic Epidermal Necrolysis
Weight loss, Anemia, Neutropenia, Abnormal vagina morphology, Pancreatitis, Thrombocytopenia ORPHA:537
Hereditary Renal Hypouricemia
Hypouricemia, Increased blood urea nitrogen ORPHA:94088
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness
Chronic sinusitis, Recurrent bronchitis, Recurrent Haemophilus influenzae infections, Otitis media OMIM:300455
Trichothiodystrophy
Congenital exfoliative erythroderma, Epicanthus, Multiple joint contractures, Eczema, Cryptorchid... ORPHA:33364
Lymphatic Filariasis
Glomerulonephritis, Orchitis, Opportunistic bacterial infection, Lymphadenitis, Epididymitis, Hyp... ORPHA:2035
Ivic Syndrome
Leukocytosis, Rectovaginal fistula, Thrombocytopenia OMIM:147750
Primary Sjögren Syndrome
Normocytic anemia, Vaginal dryness, Chronic active hepatitis, Parotitis, Thyroiditis, Biliary cir... ORPHA:289390
21Q22.11Q22.12 Microdeletion Syndrome
Thrombocytopenia, Failure to thrive in infancy, Hypoplastic nipples, Anemia ORPHA:261323
Esophagitis, Eosinophilic, 2
Failure to thrive, Eosinophilia, Esophagitis OMIM:613412
Esophagitis, Eosinophilic, 1
Failure to thrive, Eosinophilia, Esophagitis OMIM:610247
Congenital Disorder Of Glycosylation, Type Ib
Failure to thrive, Hypoalbuminemia, Hyperinsulinemic hypoglycemia OMIM:602579
Proteus-Like Syndrome
Splenomegaly, Thymus hyperplasia, Polycystic ovaries, Abnormality of the parathyroid gland ORPHA:2969
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Reticulocytosis, Leukocytosis, Schistocytosis, Peritonitis, Microangiopathic hemolytic anemia, Pa... ORPHA:90038
Atelis Syndrome 2
Thrombocytopenia, Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemi... OMIM:620185
Mannosidosis, Alpha B, Lysosomal
Inguinal hernia, Epicanthus, Splenomegaly, Vacuolated lymphocytes, Decreased circulating antibody... OMIM:248500
Cockayne Syndrome Type 2
Scarring, Cryptorchidism, Flexion contracture, Uveitis, Conjunctivitis, Male hypogonadism, Enamel... ORPHA:90322
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin
Persistence of hemoglobin F, Epicanthus, Downslanted palpebral fissures OMIM:617101
Takenouchi-Kosaki Syndrome
Thrombocytopenia, Hypospadias, Increased mean platelet volume, Cryptorchidism OMIM:616737
Thrombocytopenia 3
Thrombocytopenia, Decreased mean platelet volume OMIM:273900
Proteasome-Associated Autoinflammatory Syndrome 1
Microcytic anemia, Adipose tissue loss, Flexion contracture, Increased circulating IgG level, Con... OMIM:256040
Bernard-Soulier Syndrome
Decreased platelet glycoprotein Ib-IX-V, Giant platelets, Macrothrombocytopenia, Menorrhagia, Imp... ORPHA:274
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Hepatosplenomegaly, Anemia, Leukopenia, Bone marrow hypocellularity, Thrombocytopenia ORPHA:505248
Von Hippel-Lindau Syndrome
Neoplasm of the pancreas, Pancreatic cysts, Papillary cystadenoma of the epididymis, Pheochromocy... OMIM:193300
Myopathy, Epilepsy, And Progressive Cerebral Atrophy
Death in infancy, Thymus hyperplasia OMIM:619036
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Fasciitis, Myositis, Pericarditis, Skin rash, Orchitis, Splenomegaly, Leukocytosis, Recurrent pha... ORPHA:32960
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Pancytopenia, Cachexia, Abnormality of the spleen, Splenomegaly, Hepatosplenomegaly, Anemia, Azoo... ORPHA:2072
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Male infertility, Chronic sinusitis, Recurrent otitis media OMIM:619607
Porphyria, Congenital Erythropoietic
Hemolytic anemia, Hepatomegaly, Splenomegaly, Jaundice, Cholelithiasis, Thrombocytopenia OMIM:263700
Holocarboxylase Synthetase Deficiency
Thrombocytopenia OMIM:253270
Proprotein Convertase 1/3 Deficiency
Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Reactive hypoglycemia, Obesi... OMIM:600955
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1
Myositis, Flexion contracture, Eosinophilia OMIM:253600
Primary Sclerosing Cholangitis
Recurrent systemic pyogenic infections, Abnormal eosinophil morphology, Splenomegaly, Hepatitis, ... ORPHA:171
Complement Factor B Deficiency
Pneumonia, Peritonitis, Recurrent bacterial infections, Meningitis, Recurrent meningococcal disease OMIM:615561
Aromatase Deficiency
Male infertility, Macroorchidism, postpubertal, Eunuchoid habitus, Hypergonadotropic hypogonadism... ORPHA:91
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Hepatomegaly, Splenomegaly, Micronodular cirrhosis, Truncal obesity, Thrombocytopenia OMIM:301072
Mosaic Trisomy 9
Hypoplasia of penis, Asplenia, Cryptorchidism, Abnormal liver lobulation, Abnormality of the uter... ORPHA:99776
Immunodeficiency 27B
Recurrent mycobacterial infections, Osteomyelitis, Recurrent mycobacterium avium complex infectio... OMIM:615978
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Hepatomegaly, Decreased proportion of CD8-positive T cells, Hypereosinophilia, T lymphocytopenia,... ORPHA:508533
Woodhouse-Sakati Syndrome
Streak ovary, Dystonia, Decreased response to growth hormone stimulation test, Hyperlipidemia, In... ORPHA:3464
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Hepatomegaly, Severe B lymphocytopenia, Biliary hyperplasia, Cryptorchidism, B lymphocytopenia, P... ORPHA:83617
Sweeney-Cox Syndrome
Asplenia, Bilateral cryptorchidism OMIM:617746
Combined Oxidative Phosphorylation Deficiency 55
Thrombocytopenia, Anemia OMIM:619743
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome
Elevated amniotic fluid alpha-fetoprotein, Severe failure to thrive, HbH hemoglobin, Diabetes ins... ORPHA:423479
Igg4-Related Submandibular Gland Disease
Eosinophilia, Increased circulating IgG4 level, Cholangitis, Increased circulating IgE level, Enl... ORPHA:449432
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:223900
Lysinuric Protein Intolerance
Hepatomegaly, Decreased response to growth hormone stimulation test, Hepatosplenomegaly, Anemia, ... ORPHA:470
Diamond-Blackfan Anemia 1
Macrocytic anemia, Congenital hypoplastic anemia, Reticulocytopenia, Persistence of hemoglobin F,... OMIM:105650
Fanconi Anemia
Pyridoxine-responsive sideroblastic anemia, Hypospadias, Abnormal preputium morphology, Thrombocy... ORPHA:84
Thrombocytopenia-Absent Radius Syndrome
Aplasia of the uterus, Thrombocytopenia ORPHA:3320
Marburg Hemorrhagic Fever
Lymphopenia, Reticulocytosis, Orchitis, Jaundice, Neutrophilia in presence of infection, Lymphade... ORPHA:99826
Fetal And Neonatal Alloimmune Thrombocytopenia
Neonatal alloimmune thrombocytopenia ORPHA:853
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Thrombocytopenia, Bone marrow hypocellularity, Anemia OMIM:612199
Bacterial Toxic-Shock Syndrome
Abscess, Peritonitis, Increased circulating myelocyte count, Hepatitis, Increased circulating met... ORPHA:36234
Jacobsen Syndrome
Hypospadias, Cryptorchidism, Clitoral hypoplasia, Labial hypoplasia, Annular pancreas, Failure to... OMIM:147791
Rift Valley Fever
Miscarriage, Jaundice, Hepatitis, Anemia, Thrombocytopenia ORPHA:319251
Bone Fragility With Contractures, Arterial Rupture, And Deafness
Thrombocytopenia OMIM:612394
Microsporidiosis
Brain abscess, Cholangitis, Cachexia, Abnormality of the spleen, Abnormality of the parathyroid g... ORPHA:2552
Wilson Disease
Hypoparathyroidism, Hemolytic anemia, Hepatomegaly, Splenomegaly, Atypical or prolonged hepatitis... OMIM:277900
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Thrombocytopenia ORPHA:457351
Carney Complex
Increased body weight, Leydig cell neoplasia, Abnormal sperm motility, Ovarian serous cystadenoma... ORPHA:1359
Sarcoidosis
Hemolytic anemia, Hepatomegaly, Hyperthyroidism, Parotitis, Eosinophilia, Diabetes insipidus, Por... ORPHA:797
Chromomycosis
Keratitis, Atypical scarring of skin, Recurrent bacterial infections, Keratoconjunctivitis sicca,... ORPHA:182
Hereditary Elliptocytosis
Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Postnatal growt... ORPHA:288
Dubowitz Syndrome
Hypoparathyroidism, Hypospadias, Abnormality of neutrophils, Cryptorchidism, Acute lymphoblastic ... ORPHA:235
Crimean-Congo Hemorrhagic Fever
Hepatomegaly, Pancytopenia, Neutrophilia, Parotitis, Acute pancreatitis, Orchitis, Splenomegaly, ... ORPHA:99827
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Normochromic anemia, Thrombocytopenia OMIM:254900
Wells Syndrome
Eosinophilia, Cellulitis ORPHA:901
Dermatomyositis
Recurrent respiratory infections, Pericarditis, Abnormal eosinophil morphology, Abnormal eyelid m... ORPHA:221
Autosomal Dominant Hyper-Ige Syndrome
Recurrent respiratory infections, Osteomyelitis, Skin rash, Eosinophilia, Eczema, Increased circu... ORPHA:2314
Infantile Systemic Hyalinosis
Recurrent bacterial infections, Failure to thrive, Camptodactyly of finger, Polycystic ovaries ORPHA:2176
Alport Syndrome 1, X-Linked
Hypoparathyroidism, Thrombocytopenia OMIM:301050
Drug Reaction With Eosinophilia And Systemic Symptoms
Skin rash, Eosinophilia, Pustule, Myocarditis, Hepatitis, Thyroiditis, Weight loss, Tubulointerst... ORPHA:139402
Glycogen Storage Disease Ib
Pancreatic fibrosis, Splenomegaly, Gout, Recurrent bacterial infections, Inflammation of the larg... OMIM:232220
Prader-Willi Syndrome
Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Failure to ... OMIM:176270
Right Atrial Isomerism
Asplenia, Abdominal situs ambiguus, Polysplenia OMIM:208530
Wiedemann-Rautenstrauch Syndrome
Small for gestational age, Hypospadias, Cryptorchidism, Long penis, Hypoplasia of the thymus, Inc... OMIM:264090
Wars2-Related Combined Oxidative Phosphorylation Defect
Thrombocytopenia ORPHA:572798
Leprechaunism
Reduced subcutaneous adipose tissue, Insulin resistance, Hyperinsulinemia, Central hypothyroidism... ORPHA:508
Lassa Fever
Increased circulating IgM level, Menometrorrhagia, Conjunctivitis, Sepsis ORPHA:99824
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Absent gallbladder, Hypospadias, Cryptorchidism, Anemia, Micropenis, Thrombocytopenia ORPHA:163979
Igg4-Related Dacryoadenitis And Sialadenitis
Retroperitoneal fibrosis, Enlarged lacrimal glands, Thyroiditis, Lymphadenopathy, Weight loss, En... ORPHA:79078
Idiopathic Bronchiectasis
Cachexia, Bronchiectasis, Recurrent Haemophilus influenzae infections, Acute infectious pneumonia... ORPHA:60033
Thrombocytopenia 1
Congenital thrombocytopenia, Decreased mean platelet volume, Intermittent thrombocytopenia OMIM:313900
Hardikar Syndrome
Intrahepatic bile duct dilatation, Hepatomegaly, Decreased serum insulin-like growth factor 1, In... OMIM:301068
Tick-Borne Encephalitis
Leukopenia, Leukocytosis, Thrombocytopenia ORPHA:297
Congenital Disorder Of Glycosylation, Type Iiw
Hepatomegaly, Microcytic anemia, Splenomegaly, Anemia, Increased hepatic echogenicity, Bile duct ... OMIM:619525
Idiopathic Chronic Eosinophilic Pneumonia
Leukocytosis, Increased circulating IgE level, Hypereosinophilia, Atopic dermatitis, Weight loss ORPHA:2902
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Megaloblastic anemia, Jaundice, Neutropenia, Failure to thrive, Thrombocytopenia ORPHA:79282
Cryptogenic Organizing Pneumonia
Leukocytosis, Neutrophilia ORPHA:1302
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Male infertility, Congenital hypoparathyroidism, Parathyroid agenesis ORPHA:2239
Thrombocytopenia-Absent Radius Syndrome
Death in infancy, Eosinophilia, Pancreatic cysts, Leukocytosis, Hepatosplenomegaly, Anemia, Aplas... OMIM:274000
Psoriasis 14, Pustular
Leukocytosis, Neutrophilia OMIM:614204
Heterotaxy, Visceral, 2, Autosomal
Asplenia, Abdominal situs inversus, Polysplenia OMIM:605376
Igg4-Related Aortitis
Increased inflammatory response, Increased circulating IgG4 level, Increased circulating IgE leve... ORPHA:449400
Cushing Syndrome Due To Ectopic Acth Secretion
Pancreatic adenocarcinoma, Adrenal hyperplasia, Dorsocervical fat pad, Acne, Pancreatoblastoma, P... ORPHA:99889
Chronic Visceral Acid Sphingomyelinase Deficiency
Hepatomegaly, Decreased serum insulin-like growth factor 1, Autoimmune thrombocytopenia, Hyperspl... ORPHA:77293
Autosomal Recessive Polycystic Kidney Disease
Cholangiocarcinoma, Cholangitis, Portal hypertension, Hypersplenism, Splenomegaly, Biliary hyperp... ORPHA:731
Acquired Methemoglobinemia
Methemoglobinemia ORPHA:464453
Peeling Skin Syndrome 1
Increased circulating IgE level, Eosinophilia, Erythroderma OMIM:270300
Atypical Werner Syndrome
Failure to thrive, Hypertriglyceridemia, Diabetes mellitus, Lipoatrophy, Abnormal circulating lep... ORPHA:79474
Nijmegen Breakage Syndrome
Hemolytic anemia, Autoimmune hemolytic anemia, Cachexia, Acute leukemia, Thrombocytopenia ORPHA:647
Congenital Alveolar Capillary Dysplasia
Asplenia, Absent gallbladder, Annular pancreas ORPHA:210122
Gaucher Disease
Death in infancy, Pancytopenia, Hepatomegaly, Splenomegaly, Hepatitis, Anemia, Cirrhosis, Delayed... ORPHA:355
Hennekam-Beemer Syndrome
Pneumonia, Camptodactyly of finger, Upslanted palpebral fissure, Mastocytosis, Failure to thrive ORPHA:2135
Acute Generalized Exanthematous Pustulosis
Predominantly dermal neutrophilic infiltrate, Neutrophilia, Eosinophilia, Pustule, Leukocytosis, ... ORPHA:293173
Liver Disease, Severe Congenital
Biliary hyperplasia, Leukopenia, Lymphocytosis, Elevated hepatic iron concentration, Pancreatic h... OMIM:619991
Herpes Simplex Virus Encephalitis
Leukocytosis, Neutrophilia ORPHA:1930
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Hypospadias, Increased mean platelet volume, Abnormality of the endocrine system, Abnormality of ... ORPHA:487796
Ectodermal Dysplasia And Immunodeficiency 1
Dysgammaglobulinemia, Reduced natural killer cell activity, Increased circulating IgA level, Seve... OMIM:300291
Von Hippel-Lindau Disease
Neoplasm of the pancreas, Pancreatic islet cell adenoma, Pancreatic cysts, Myocarditis, Adrenal p... ORPHA:892
Igg4-Related Kidney Disease
Lymphadenitis, Increased circulating IgG level, Tubulointerstitial nephritis, Cholecystitis, Sial... ORPHA:449395
Complement Factor I Deficiency
Recurrent urinary tract infections, Recurrent skin infections, Glomerulonephritis, Recurrent Haem... OMIM:610984
Meckel Syndrome
Accessory spleen, True hermaphroditism, Pancreatic fibrosis, Asplenia, Cryptorchidism, Pancreatic... ORPHA:564
Autosomal Dominant Polycystic Kidney Disease
Recurrent urinary tract infections, Pancreatic cysts, Pyelonephritis, Pituitary growth hormone ce... ORPHA:730
Neuroleptic Malignant Syndrome
Thrombocytosis, Leukocytosis, Thrombocytopenia ORPHA:94093
Renal Cysts And Diabetes Syndrome
Hypospadias, Gout, Hypoplasia of the uterus, Bicornuate uterus, Epididymal cyst, Pancreatic hypop... OMIM:137920
Staphylococcal Necrotizing Pneumonia
Leukopenia, Leukocytosis, Neutrophilia ORPHA:36238
Cystic Fibrosis
Recurrent Aspergillus infections, Recurrent respiratory infections, Absent vas deferens, Sinusiti... ORPHA:586
Fibular Hemimelia
Thrombocytopenia ORPHA:93323
Jacobsen Syndrome
Death in infancy, Cryptorchidism, Bone marrow hypocellularity, Annular pancreas, Thrombocytopenia ORPHA:2308
Adult-Onset Still Disease
Splenomegaly, Leukocytosis, Neutrophilia ORPHA:829
Noonan Syndrome 1
Male infertility, Amegakaryocytic thrombocytopenia, Juvenile myelomonocytic leukemia, Epicanthus,... OMIM:163950
Infection-Related Hemolytic Uremic Syndrome
Hemolytic anemia, Brain abscess, Diabetes mellitus, Leukocytosis, Pancreatitis, Thrombocytopenia ORPHA:544482
Hemorrhagic Fever-Renal Syndrome
Thrombocytopenia, Leukocytosis, Anemia, Decreased body weight ORPHA:340
Loeffler Endocarditis
Pericarditis, Eosinophilia, Weight loss ORPHA:75566
Truncus Arteriosus
Adrenocortical abnormality, Hypoplasia of the thymus ORPHA:3384
Onychotrichodysplasia And Neutropenia
Chronic irritative conjunctivitis, Chronic neutropenia, Curly eyelashes, Recurrent infections, Ly... OMIM:258360
Kindler Epidermolysis Bullosa
Recurrent skin infections, Abnormal dental enamel morphology, Camptodactyly of finger, Phimosis, ... ORPHA:2908
Epidermolysis Bullosa Dystrophica, Autosomal Recessive
Flexion contracture, Corneal scarring, Atrophic scars, Conjunctivitis, Enamel hypoplasia, Anemia OMIM:226600
Cogan Syndrome
Episcleritis, Keratitis, Leukocytosis, Uveitis, Scleritis, Conjunctivitis, Thrombocytosis, Inflam... ORPHA:1467
Solitary Fibrous Tumor
Hypoglycemia, Reduced C-peptide level, Weight loss, Recurrent hypoglycemia, Hypophosphatemic rick... ORPHA:2126
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Abnormality of the liver, Thrombocytopenia ORPHA:464321
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Eosinophilia, Recurrent infections, Decreased circulating antibody level, Erythroderma, Lymphopenia OMIM:617425
Cornelia De Lange Syndrome 1
Hypospadias, Cryptorchidism, Hypoplastic labia majora, Hypoplastic nipples, Hypoplastic male exte... OMIM:122470
Cystic Fibrosis
Male infertility, Recurrent bronchopulmonary infections, Recurrent pneumonia, Bronchiectasis, Hep... OMIM:219700
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Asplenia OMIM:619657
Eosinophilic Granulomatosis With Polyangiitis
Increased inflammatory response, Myositis, Sinusitis, Skin rash, Eosinophilia, Myocarditis, Endoc... ORPHA:183
Meckel Syndrome, Type 1
Accessory spleen, External genital hypoplasia, Adrenal hypoplasia, Malformation of the hepatic du... OMIM:249000
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Abnormal penis morphology, Anterior uveitis, Inflammatory abnormality of the skin, Skin rash, Sym... ORPHA:95455
Angiostrongyliasis
Increased circulating IgA level, Hypereosinophilia, Unusual CNS infection, Increased circulating ... ORPHA:74
Iga Pemphigus
Neutrophilic infiltration of the skin, Monoclonal elevation of circulating IgA, Eosinophilia, Inc... ORPHA:555905
O'Sullivan-Mcleod Syndrome
Increased circulating antibody level, Eosinophilia ORPHA:99965
Roberts Syndrome
Cryptorchidism, Clitoral hypertrophy, Long penis, Thrombocytopenia ORPHA:3103
Alveolar Echinococcosis
Liver abscess, Eosinophilia, Cholangitis, Pancreatic cysts, Weight loss, Abnormal spleen morpholo... ORPHA:284
Goodpasture Syndrome
Weight loss, Anemia, Increased blood urea nitrogen OMIM:233450
Tetraamelia Syndrome 1
Hypoplasia of the fallopian tube, Absent external genitalia, Asplenia, Adrenal gland agenesis, Va... OMIM:273395
Oculocerebrorenal Syndrome Of Lowe
Death in infancy, Hyperparathyroidism, Cryptorchidism, Thrombocytopenia, Azoospermia, Abnormal ci... ORPHA:534
De Sanctis-Cacchione Syndrome
Entropion, Bilateral cryptorchidism, Keratitis, Gonadal hypoplasia, Conjunctivitis, Ectropion OMIM:278800
Feingold Syndrome 1
Asplenia, Annular pancreas, Polysplenia, Accessory spleen OMIM:164280
Listeriosis
Liver abscess, Abnormal cellular immune system morphology, Sepsis, Granulomatosis, Conjunctivitis... ORPHA:533
Pseudoaminopterin Syndrome
Asplenia, Cryptorchidism ORPHA:221120
Pneumocystosis
Abnormal neutrophil count ORPHA:723
Yellow Fever
Acute pancreatitis, Neutrophilia, Pancreatic hyperplasia, Leukocytosis, Jaundice, Thrombocytopenia ORPHA:99829
Aicardi-Goutières Syndrome
Diabetes mellitus, Neonatal alloimmune thrombocytopenia, Chronic lymphatic leukemia, Hepatospleno... ORPHA:51
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Absent nipple, Aplasia of the thymus, Congenital hypothyroidism, Hydrocele testis, Hypoplastic ni... OMIM:620186
Incontinentia Pigmenti
Maculopapular exanthema, Scarring, Eosinophilia, Supernumerary nipple, Keratitis, Leukocytosis, U... OMIM:308300
Granulomatosis With Polyangiitis
Episcleritis, Sinusitis, Keratitis, Uveitis, Weight loss, Granulomatosis, Conjunctivitis, Chronic... OMIM:608710
Mucoepithelial Dysplasia, Hereditary
Pneumonia, Eosinophilia, Recurrent pneumonia, Chronic mucocutaneous candidiasis, Keratoconjunctiv... OMIM:158310
Leptospirosis
Hepatomegaly, Jaundice, Hepatitis, Lymphadenopathy, Thrombocytopenia ORPHA:509
Complement Component 5 Deficiency
Recurrent Neisserial infections, Generalized seborrheic dermatitis, Recurrent meningococcal disease OMIM:609536
Heterotaxy, Visceral, 1, X-Linked
Hepatomegaly, Asplenia, Biliary atresia, Abdominal situs inversus, Polysplenia, Failure to thrive OMIM:306955
Sweet Syndrome
Acute myeloid leukemia, Neutrophilia, Leukocytosis, Chronic lymphatic leukemia, Anemia, Sterile a... ORPHA:3243
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Hypospadias, Asplenia, Pulmonary lymphangiectasia, Bicornuate uterus, Neonatal death, Annular pan... OMIM:265380
Steinert Myotonic Dystrophy
Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulati... ORPHA:273
Ogden Syndrome
Maternal diabetes, Cryptorchidism, Jaundice, Microvesicular hepatic steatosis, Hydrocele testis, ... OMIM:300855
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Splenomegaly, Neutrophilia, Abscess OMIM:612852
Floating-Harbor Syndrome
Inguinal hernia, Hypospadias, Cryptorchidism, Glandular hypospadias, Atopic dermatitis, Long eyel... OMIM:136140
Nocardiosis
Liver abscess, Lymphadenitis, Sepsis, Conjunctivitis, Meningitis, Infectious encephalitis, Brain ... ORPHA:31204
Incontinentia Pigmenti
Skin rash, Abnormal dental enamel morphology, Camptodactyly of finger, Eosinophilia, Keratitis, S... ORPHA:464
Turner Syndrome Due To Structural X Chromosome Anomalies
Failure to thrive in infancy, High urinary gonadotropin level, Increased circulating gonadotropin... ORPHA:99413
Mosaic Monosomy X
Failure to thrive in infancy, High urinary gonadotropin level, Increased circulating gonadotropin... ORPHA:99228
Monosomy X
Failure to thrive in infancy, High urinary gonadotropin level, Increased circulating gonadotropin... ORPHA:99226
Turner Syndrome
Failure to thrive in infancy, High urinary gonadotropin level, Increased circulating gonadotropin... ORPHA:881
Acute Liver Failure
Jaundice, Hepatitis, Hepatic necrosis, Hepatocellular necrosis, Adrenal insufficiency, Hepatic pe... ORPHA:90062
Cystinosis, Nephropathic
Male infertility, Hepatomegaly, Diabetes mellitus, Failure to thrive in infancy, Splenomegaly, We... OMIM:219800
Proteus Syndrome
Thymus hyperplasia, Testicular neoplasm, Cachexia, Neoplasm of the thymus, Splenomegaly, Enlarged... ORPHA:744
Igg4-Related Pachymeningitis
Sinusitis, Eosinophilia, Increased circulating IgG4 level, Lymphadenitis, Nephritis, Pancreatitis... ORPHA:449427
Hyper-Igd Syndrome
Splenomegaly, Leukocytosis, Neutrophilia, Hepatosplenomegaly OMIM:260920
Exercise-Induced Malignant Hyperthermia
Thrombocytopenia ORPHA:466650
Heterotaxy, Visceral, 5, Autosomal
Asplenia, Abdominal situs ambiguus, Abdominal situs inversus OMIM:270100
Hereditary Sensory And Autonomic Neuropathy Type 4
Fasciitis, Osteomyelitis, Abscess, Corneal scarring, Atypical scarring of skin, Recurrent Staphyl... ORPHA:642
Tenorio Syndrome
Hypoglycemia, Hypoinsulinemia OMIM:616260
Pmm2-Cdg
Pericarditis, Multiple joint contractures, Hypogonadotropic hypogonadism, Lipodystrophy, Epicanth... ORPHA:79318
Osteogenesis Imperfecta
Small for gestational age, Thrombocytopenia ORPHA:666
Familial Mediterranean Fever
Splenomegaly, Leukocytosis, Neutrophilia OMIM:249100
Floating-Harbor Syndrome
Hypospadias, Small for gestational age, Precocious puberty, Cryptorchidism, Epididymal cyst, Vari... ORPHA:2044
O'Donnell-Luria-Rodan Syndrome
Cryptorchidism, Downslanted palpebral fissures OMIM:618512
Mowat-Wilson Syndrome
Bifid scrotum, Hypospadias, Septate vagina, Asplenia, Cryptorchidism, Hydrocele testis, Chordee, ... ORPHA:2152
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Bifid scrotum, Hypospadias, Septate vagina, Asplenia, Cryptorchidism, Hydrocele testis, Chordee, ... ORPHA:261537
Atrial Septal Defect, Coronary Sinus Type
Recurrent bacterial infections, Pneumonia ORPHA:99104
Alström Syndrome
Hypertriglyceridemia, Precocious puberty in females, Decreased response to growth hormone stimula... ORPHA:64
Atrial Septal Defect, Ostium Secundum Type
Recurrent bacterial infections, Pneumonia ORPHA:99103
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Bifid scrotum, Hypospadias, Septate vagina, Asplenia, Cryptorchidism, Hydrocele testis, Chordee, ... ORPHA:261552
Tropical Endomyocardial Fibrosis
Splenomegaly, Eosinophilia, Cachexia ORPHA:75565

Histopathology

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

There is no histopathology data for Kmt2e

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Kmt2e.

There are 1 publication which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation. G3 (Bethesda, Md.) (June 2020) Kmt2etm1.2(IMPC)Wtsi PMC7263671

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Kmt2etm1(IMPC)Wtsi Reporter-tagged deletion allele (with selection cassette) Mice, ES Cells
Kmt2etm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Kmt2etm1.2(IMPC)Wtsi Reporter-tagged deletion allele (post Flp, with no reporter and selection cassette) Mice

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