Gene Summary

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

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

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

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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
Absent sperm axoneme central pair complex, Abnormal male external genitalia morphology, Recurrent... OMIM:301101
Reticular Dysgenesis
Lymphopenia, Leukopenia, Congenital agranulocytosis, Hypoplasia of the thymus OMIM:267500
Spermatogenic Failure 72
Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Reduced progressive spe... OMIM:619867
Spermatogenic Failure 34
Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Short sperm flagella, A... OMIM:618153
Spermatogenic Failure, X-Linked, 5
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Absent s... OMIM:301099
Hemoglobin D Disease
Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno... ORPHA:90039
Spermatogenic Failure 65
Reduced sperm motility, Irregularly shaped sperm tail, Reduced progressive sperm motility, Abnorm... OMIM:619712
Spermatogenic Failure 33
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... OMIM:618152
Spermatogenic Failure 37
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... OMIM:618429
Spermatogenic Failure 18
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... OMIM:617576
Spermatogenic Failure 46
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... OMIM:619095
Spermatogenic Failure 27
Absent sperm axoneme central pair complex, Short sperm flagella, Absent sperm flagella, Reduced s... OMIM:617965
Spermatogenic Failure 84
Reduced sperm motility, Irregularly shaped sperm tail, Reduced progressive sperm motility, Short ... OMIM:620409
Hemoglobin E-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin, Increased circulating ferritin concentration ORPHA:231249
Spermatogenic Failure 43
Absent sperm axoneme central pair complex, Absent sperm flagella, Reduced sperm motility, Male in... OMIM:618751
Spermatogenic Failure 19
Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... OMIM:617592
Spermatogenic Failure 82
Reduced progressive sperm motility, Short sperm flagella, Absent sperm flagella, Male infertility... OMIM:620353
Spermatogenic Failure 49
Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... OMIM:619144
Spermatogenic Failure 45
Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... OMIM:619094
Spermatogenic Failure 56
Reduced sperm motility, Irregularly shaped sperm tail, Reduced progressive sperm motility, Short ... OMIM:619515
Spermatogenic Failure, X-Linked, 3
Reduced sperm motility, Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagell... OMIM:301059
Spermatogenic Failure 83
Altered location of the longitudinal column in the fibrous sheath, Reduced progressive sperm moti... OMIM:620354
Immunodeficiency 52
Increased proportion of gamma-delta T cells, Failure to thrive, Lymphopenia, Abnormal B cell coun... OMIM:617514
Spermatogenic Failure 35
Absent sperm axoneme central pair complex, Short sperm flagella, Absent sperm flagella, Male infe... OMIM:618341
Spermatogenic Failure 54
Abnormal sperm axoneme morphology, Cryptozoospermia, Tapered sperm head, Short sperm flagella, Ol... OMIM:619379
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Increased circulating iron concentration, Reduced red cell pyruvate kinase level, Increased circu... ORPHA:766
Spermatogenic Failure 80
Reduced progressive sperm motility, Short sperm flagella, Absent sperm flagella, Oligozoospermia,... OMIM:620222
Spermatogenic Failure 58
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Immotile... OMIM:619585
Spermatogenic Failure 76
Reduced sperm motility, Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagell... OMIM:620084
Spermatogenic Failure 42
Microcephalic sperm head, Tapered sperm head, Short sperm flagella, Absent sperm flagella, Reduce... OMIM:618745
Immunodeficiency 105
Reduced natural killer cell count, Lymphopenia, Hepatosplenomegaly, Pancytopenia, Death in childh... OMIM:619924
Spermatogenic Failure 39
Reduced sperm motility, Tapered sperm head, Short sperm flagella, Absent sperm flagella, Oligozoo... OMIM:618643
Spermatogenic Failure 11
Male infertility, Abnormal sperm morphology, Oligozoospermia, Reduced sperm motility OMIM:615081
Spermatogenic Failure 10
Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia, Male infertility OMIM:614822
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Abnormal sperm morphology, Immotile sperm, Male infertility OMIM:608653
Spermatogenic Failure 51
Absent sperm axoneme central pair complex, Reduced sperm motility, Irregularly shaped sperm tail,... OMIM:619177
Spermatogenic Failure 20
Male infertility, Short sperm flagella, Absent sperm flagella, Coiled sperm flagella OMIM:617593
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
T lymphocytopenia ORPHA:169095
Immunodeficiency 42
Hepatomegaly, Hypoplasia of the thymus, Splenomegaly OMIM:616622
Deafness-Infertility Syndrome
Abnormal sperm head morphology, Reduced sperm motility, Abnormal spermatogenesis, Male infertilit... OMIM:611102
Spermatogenic Failure 40
Short sperm flagella, Immotile sperm, Absent sperm flagella, Oligozoospermia, Male infertility, C... OMIM:618664
Agammaglobulinemia 7, Autosomal Recessive
Reduced natural killer cell count, Neutropenia, Abnormal T cell morphology OMIM:615214
Immunodeficiency 18
Reduced natural killer cell count, Lymphopenia, Abnormal B cell count, Decreased proportion of CD... OMIM:615615
Spermatogenic Failure 79
Male infertility, Reduced sperm motility, Oligozoospermia, Coiled sperm flagella OMIM:620196
Spermatogenic Failure 63
Decreased testicular size, Reduced progressive sperm motility, Oligozoospermia, Male infertility OMIM:619689
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Abnormally low T cell receptor excision circle level, Genital ulcers, Failure to thrive, Lymphope... OMIM:602450
Male Infertility Due To Acephalic Spermatozoa
Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Oligozoospermia, Reduced sperm motili... ORPHA:529970
Spermatogenic Failure 47
Short sperm flagella, Immotile sperm, Absent sperm flagella, Oligozoospermia, Male infertility OMIM:619102
Congenital Glucokinase-Related Hyperinsulinism
Hand tremor, Fasting hyperinsulinemia, Recurrent hypoglycemia, Hypoketotic hypoglycemia, Abnormal... ORPHA:79299
Spermatogenic Failure 36
Abnormal sperm morphology, Male infertility OMIM:618420
Hyperinsulinemic Hypoglycemia, Familial, 5
Hypoglycemic seizures, Elevated circulating insulin:C-peptide ratio, Hyperinsulinemic hypoglycemi... OMIM:609968
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Decreased helper T cell proportion, Pancytopenia, Splenomegaly, Hypersplenism OMIM:183350
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Poikilocytosis, Oval macrocytosis, Anemia of inadequate production, Anisocytosis OMIM:603529
Immunodeficiency 104
Failure to thrive secondary to recurrent infections, Splenomegaly, Lymphadenopathy, Hepatomegaly,... OMIM:608971
Hemoglobin-Delta locus
Anemia, Imbalanced hemoglobin synthesis OMIM:142000
Spermatogenic Failure 7
Immotile sperm, Reduced sperm motility, Oligozoospermia, Male infertility OMIM:612997
Immunodeficiency 15B
Reduced natural killer cell count, Death in infancy, Monocytosis OMIM:615592
Spermatogenic Failure 41
Tapered sperm head, Short sperm flagella, Immotile sperm, Oligozoospermia, Male infertility OMIM:618670
Immunodeficiency 76
Lymphopenia, Splenomegaly, Death in childhood, Lymphadenopathy, B lymphocytopenia, T lymphocytopenia OMIM:619164
Spermatogenic Failure 21
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:617644
Spermatogenic Failure 16
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:617187
Spermatogenic Failure 24
Microcephalic sperm head, Tapered sperm head, Short sperm flagella, Reduced sperm motility, Coile... OMIM:617959
Spermatogenic Failure 78
Microcephalic sperm head, Tapered sperm head, Male infertility OMIM:620170
Immunodeficiency 21
Reduced natural killer cell count, Aplastic anemia, Lymphopenia, Anemia, Neutropenia, B lymphocyt... OMIM:614172
Immunodeficiency 112
Reduced natural killer cell count, Increased T cell count, Decreased proportion of class-switched... OMIM:620449
Spermatogenic Failure 64
Male infertility, Reduced progressive sperm motility, Abnormal sperm head morphology, Oligozoospe... OMIM:619696
Immune Thrombocytopenia
Thrombocytopenia OMIM:188030
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Decreased proportion of CD8-positive T cells, Failure to thrive in infancy, Decreased proportion ... OMIM:617241
Iron-Refractory Iron Deficiency Anemia
Poikilocytosis, Elevated circulating hepcidin concentration, Hypochromic microcytic anemia, Aniso... OMIM:206200
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Reduced natural killer cell count, Hypoplasia of the thymus, Impaired lymphocyte transformation w... OMIM:619313
Partial Chromosome Y Deletion
Decreased testicular size, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal... ORPHA:1646
Severe Combined Immunodeficiency, X-Linked
Failure to thrive, Hypoplasia of the thymus, Impaired lymphocyte transformation with phytohemaggl... OMIM:300400
Asplenia, Isolated Congenital
Howell-Jolly bodies, Asplenia, Thrombocytosis OMIM:271400
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Increased circulating ferritin concentration, Hepatosplenomegaly, Erythroid hyperplasia, Type II ... OMIM:616860
Spermatogenic Failure 86
Acephalic spermatozoa, Acrosomal hypoplasia, Abnormal sperm head morphology, Ruffled acrosome, Ma... OMIM:620499
Immunodeficiency 19
Abnormal B cell morphology, T lymphocytopenia, Abnormal natural killer cell morphology, Failure t... OMIM:615617
Spermatogenic Failure 25
Cryptozoospermia, Non-obstructive azoospermia, Decreased testicular size, Spermatocyte maturation... OMIM:617960
Immunodeficiency, partial combined, with absence of hla determinantsand beta-2-microglobulin from lymphocytes
T lymphocytopenia OMIM:242870
Spermatogenic Failure, X-Linked, 7
Excess residual spermatozoal cytoplasm, Multiflagellar spermatozoa, Globozoospermia, Reduced sper... OMIM:301106
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Failure to thrive, Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Hepatomegaly, Thromboc... OMIM:615285
Spermatogenic Failure 70
Azoospermia, Reduced sperm motility, Oligozoospermia, Male infertility OMIM:619828
Spermatogenic Failure 57
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility, Decreased testi... OMIM:619528
Spermatogenic Failure 85
Acephalic spermatozoa, Reduced progressive sperm motility, Globozoospermia, Male infertility, Coi... OMIM:620490
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemia, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia,... OMIM:610021
Combined Oxidative Phosphorylation Deficiency 34
Failure to thrive, Hypoglycemia, Elevated circulating thyroid-stimulating hormone concentration, ... OMIM:617872
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Splenomegaly, Decreased proportion of class-switched memory B cells, Increased proportion of tran... OMIM:615513
Omenn Syndrome
Failure to thrive, Splenomegaly, Hypoplasia of the thymus, Eosinophilia, Anemia, Hepatomegaly, Ly... OMIM:603554
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Hypochromic anemia, Anemia of inadequate production, Anisocytosis, Poikilocytosis, Macrothrombocy... ORPHA:67044
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Spermatogenic Failure 81
Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia, Male infertility OMIM:620277
Hyperinsulinism Due To Insr Deficiency
Insulin resistance, Hypoglycemia, Fasting hyperinsulinemia, Recurrent hypoglycemia, Abnormal circ... ORPHA:263458
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Abnormally low T cell receptor excision circle level, Reduced natural killer cell count, Failure ... ORPHA:276
Hyperinsulinemic Hypoglycemia, Familial, 6
Abnormality of the pancreatic islet cells, Asymptomatic hyperammonemia, Failure to thrive, Hyperi... OMIM:606762
Anemia, Congenital Dyserythropoietic, Type Iv
Increased RBC distribution width, Persistence of hemoglobin F, Hepatosplenomegaly, Hyperbilirubin... OMIM:613673
Ciliary Dyskinesia, Primary, 50
Chronic sinusitis, Reduced progressive sperm motility, Short sperm flagella, Absent inner dynein ... OMIM:620356
Spermatogenic Failure 29
Non-obstructive azoospermia, Immotile sperm, Male infertility OMIM:618091
Spermatogenic Failure 30
Cryptozoospermia, Azoospermia, Cryptorchidism, Spermatogenesis maturation arrest, Male infertility OMIM:618110
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Spermatogenic Failure 3
Male infertility, Reduced sperm motility OMIM:606766
Spermatogenic Failure, Y-Linked, 1
Male infertility, Reduced sperm motility OMIM:400042
Spermatogenic Failure 55
Male infertility, Reduced sperm motility OMIM:619380
Spermatogenic Failure 5
Multiflagellar spermatozoa, Macrozoospermia, Male infertility OMIM:243060
Immunodeficiency 24
Lymphopenia, Decreased proportion of memory B cells, Reduced proportion of mucosal-associated inv... OMIM:615897
Isochromosomy Yp
Decreased testicular size, Azoospermia, Ambiguous genitalia, Male infertility ORPHA:98797
Spermatogenic Failure 50
Spermatogenesis maturation arrest, Decreased testicular size, Azoospermia, Male infertility OMIM:619145
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Failure to thrive, Recurrent otitis media, Neutropenia, Recurrent bacterial infections, Recurrent... OMIM:616022
Ciliary Dyskinesia, Primary, 51
Reduced sperm motility, Irregularly shaped sperm tail, Recurrent sinusitis, Chronic rhinitis, Red... OMIM:620438
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Splenomegaly, Abnormal hemoglobin, Thrombocytopenia, Anemia, Abnormal platelet function ORPHA:231393
Anemia, Congenital Dyserythropoietic, Type Ib
Erythroid hyperplasia, Splenomegaly, Anemia of inadequate production, Anisocytosis, Reticulocytos... OMIM:615631
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Decreased testicular size, Non-obstructive azoospermia, Globozoospermia, Abnormal spermatogenesis... ORPHA:399808
Immunodeficiency, Common Variable, 5
Abnormal T cell count, Abnormal B cell count OMIM:613495
Immunodeficiency 84
Perianal abscess, Splenomegaly, B lymphocytopenia OMIM:619437
Obesity Due To Melanocortin 4 Receptor Deficiency
Obesity, Hyperinsulinemia, Type II diabetes mellitus, Childhood-onset truncal obesity, Hypertrigl... ORPHA:71529
Spermatogenic Failure 32
Sertoli cell-only phenotype, Non-obstructive azoospermia, Male infertility OMIM:618115
Spermatogenic Failure 71
Sertoli cell-only phenotype, Non-obstructive azoospermia, Male infertility OMIM:619831
Cernunnos-Xlf Deficiency
Lymphopenia, Thrombocytopenia, B lymphocytopenia, Anemia, T lymphocytopenia ORPHA:169079
Neutropenia, Lethal Congenital, With Eosinophilia
Eosinophilia, Neutropenia, Neonatal death OMIM:257100
Spermatogenic Failure 73
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:619878
Spermatogenic Failure 59
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:619645
Spermatogenic Failure 60
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:619646
Spermatogenic Failure 74
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:619937
Spermatogenic Failure 62
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest OMIM:619673
Spermatogenic Failure 61
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest OMIM:619672
Spermatogenic Failure 88
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest OMIM:620547
Immunodeficiency 102
Reduced natural killer cell count, Increased proportion of CD8-positive, alpha-beta TEMRA T cells... OMIM:301082
Gray Platelet Syndrome
Abnormality of the menstrual cycle, Abnormality of thrombocytes, Splenomegaly, Thrombocytopenia ORPHA:721
Lymphoproliferative Syndrome 3
Reduced natural killer cell count, Hepatosplenomegaly OMIM:618261
Myelolymphatic Insufficiency
Recurrent bacterial infections, Leukopenia, Recurrent viral infections, Hyposegmentation of neutr... OMIM:310350
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Abnormally low T cell receptor excision circle level, Failure to thrive in infancy, Cervical lymp... OMIM:618987
Hyperinsulinemic Hypoglycemia, Familial, 1
Hypoglycemic seizures, Large for gestational age, Hyperinsulinemic hypoglycemia, Pancreatic islet... OMIM:256450
Hyperinsulinemic Hypoglycemia, Familial, 3
Hypoglycemic seizures, Diabetes mellitus, Hyperinsulinemic hypoglycemia OMIM:602485
Bleeding Disorder, Platelet-Type, 9
Thrombocytopenia OMIM:614200
Combined Immunodeficiency, X-Linked
Abnormal T cell count, Decreased proportion of CD8-positive T cells, Decreased proportion of CD4-... OMIM:312863
Isochromosomy Yq
Varicocele, Male infertility, Decreased testicular size, Azoospermia, Ambiguous genitalia, Gonada... ORPHA:98798
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Amegakaryocytic thrombocytopenia ORPHA:71289
Spermatogenic Failure 31
Acephalic spermatozoa, Male infertility OMIM:618112
Spermatogenic Failure 53
Tapered sperm head, Male infertility OMIM:619258
Spermatogenic Failure 87
Ruffled acrosome, Male infertility OMIM:620500
Spermatogenic Failure 26
Acephalic spermatozoa, Male infertility OMIM:617961
Spermatogenic Failure 44
Decreased testicular size, Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:619044
Hemoglobin H Disease
Splenomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin OMIM:613978
Mirage Syndrome
Hypospadias, Microphallus, Lymphopenia, Leukopenia, Decreased testicular size, Adrenal insufficie... OMIM:617053
Spermatogenic Failure 48
Spermatogenesis maturation arrest, Azoospermia, Oligozoospermia, Male infertility OMIM:619108
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hemophagocytosis, Splenomegaly, Hepatomegaly, Lymphadenopathy, Thrombocytopenia, Neutropenia, Ane... OMIM:603552
Diamond-Blackfan Anemia 18
Erythroid hypoplasia, Neutropenia, Steroid-responsive anemia OMIM:618310
Beta-Thalassemia, Dominant Inclusion Body Type
Persistence of hemoglobin F, Microcytic anemia, Splenomegaly, Erythrocyte inclusion bodies, Incre... OMIM:603902
Immunodeficiency 54
Reduced natural killer cell count, Postnatal growth retardation, Intrauterine growth retardation,... OMIM:609981
Spermatogenic Failure 17
Male infertility OMIM:617214
Immunodeficiency 20
Reduced natural killer cell count OMIM:615707
Immunodeficiency 53
Impaired lymphocyte transformation with phytohemagglutinin, Neutrophilia OMIM:617585
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4
Abnormal B cell morphology OMIM:616911
Purine Nucleoside Phosphorylase Deficiency
Failure to thrive, Lymphopenia, Lymph node hypoplasia, Autoimmune hemolytic anemia, Splenomegaly,... OMIM:613179
Whim Syndrome 1
Decreased circulating IgG level, Recurrent upper respiratory tract infections, Abnormal morpholog... OMIM:193670
Rh-Null, Amorph Type
Stomatocytosis, Hyperbilirubinemia, Reticulocytosis, Anisocytosis, Hemolytic anemia OMIM:617970
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Absence of lymph node germinal center, Failure to thrive, Lymphopenia, B lymphocytopenia, Absent ... ORPHA:277
Specific Granule Deficiency 1
Recurrent pneumonia, Increased neutrophil mitochondria, Increased neutrophil ribosomes, Absent ne... OMIM:245480
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2
Failure to thrive, Hyperleucinemia, Hyperammonemia, Decreased body weight, Hypervalinemia, Increa... OMIM:620085
Spermatogenic Failure 1
Cryptozoospermia, Oligozoospermia, Male infertility OMIM:258150
Plin1-Related Familial Partial Lipodystrophy
Hyperinsulinemia, Hypertriglyceridemia, Reduced subcutaneous adipose tissue, Loss of gluteal subc... ORPHA:280356
Immunodeficiency 32B
Pneumonia, Failure to thrive, BCGitis, Recurrent respiratory infections, Impaired oxidative burst... OMIM:226990
Spermatogenic Failure 38
Abnormal axonemal organization of respiratory motile cilia, Reduced sperm motility, Tapered sperm... OMIM:618433
Erythroleukemia, Familial, Susceptibility To
Erythroid hyperplasia, Splenomegaly, Hepatomegaly, Anemia, Acute myeloid leukemia, Thrombocytopen... OMIM:133180
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Abnormal neutrophil morphology, Leukopenia, Abnormal erythrocyte morphology, Macrocytic anemia, A... ORPHA:86841
Bone Marrow Failure Syndrome 2
Anemia, Bone marrow hypocellularity, Leukopenia, Thrombocytopenia OMIM:615715
Beemer Lethal Malformation Syndrome
Ambiguous genitalia, Thrombocytopenia OMIM:209970
Acute Myelomonocytic Leukemia
Leukocytosis, Eosinophilia, Weight loss, Thrombocytopenia, Anemia ORPHA:517
Aicardi-Goutieres Syndrome 3
Hepatosplenomegaly, Death in childhood, Thrombocytopenia OMIM:610329
Hyperinsulinemic Hypoglycemia, Familial, 2
Large for gestational age, Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia, Hypo... OMIM:601820
Niemann-Pick Disease, Type B
Sea-blue histiocytosis, Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia, Bone-marrow foam cells OMIM:607616
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hepatitis, Lymphopenia, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Autoimmune th... ORPHA:444463
Anemia, Congenital Dyserythropoietic, Type Ia
Macrocytic dyserythropoietic anemia, Erythroid hyperplasia, Hyperbilirubinemia, Reticulocytosis, ... OMIM:224120
Immunodeficiency 51
Pneumonia, Folliculitis, Chronic mucocutaneous candidiasis, Cutaneous abscess, Recurrent respirat... OMIM:613953
Mu-Heavy Chain Disease
Abnormal B cell count, Splenomegaly, Hepatomegaly, Weight loss, Lymphadenopathy, Anemia ORPHA:100024
Wiskott-Aldrich Syndrome
Abnormal eosinophil morphology, Acute leukemia, Inflammation of the large intestine, Microcytic a... ORPHA:906
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Splenomegaly, Microcytic anemia, Abnormal hemoglobin ORPHA:231242
Eosinophilia, Familial
Anemia, Eosinophilia, Leukocytosis, Thrombocytopenia OMIM:131400
Delta-Beta-Thalassemia
Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231237
Sea-Blue Histiocyte Disease
Cirrhosis, Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis OMIM:269600
Acetophenetidin Sensitivity
Methemoglobinemia, Hemolytic anemia OMIM:200300
Congenital Amegakaryocytic Thrombocytopenia
Anemia, Abnormal hemoglobin, Thrombocytopenia ORPHA:3319
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
Abnormally low T cell receptor excision circle level, T lymphocytopenia OMIM:618806
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
T lymphocytopenia, Decreased helper T cell proportion OMIM:601705
Hemoglobin E Disease
Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Splenomega... ORPHA:2133
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Bone marrow hypocellularity, Megaloblastic erythroid hyperplasia, Hypochromic ... ORPHA:75564
Spermatogenic Failure 22
Cryptozoospermia, Non-obstructive azoospermia, Male infertility OMIM:617706
Combined Cellular And Humoral Immune Defects With Granulomas
T lymphocytopenia, B lymphocytopenia OMIM:233650
Overhydrated Hereditary Stomatocytosis
Abnormal mean corpuscular volume, Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis... ORPHA:3203
Immunodeficiency 48
Failure to thrive, Abnormal B cell count, Splenomegaly, Impaired lymphocyte transformation with p... OMIM:269840
Spermatogenic Failure 6
Decreased acrosin in sperm head, Globozoospermia, Male infertility OMIM:102530
Immunodeficiency 85 And Autoimmunity
Decreased proportion of memory B cells, Reduced natural killer cell count, Lymphopenia, Decreased... OMIM:619510
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Pontocerebellar Hypoplasia, Type 15
Anemia, Death in infancy, Chronic neutropenia, Thrombocytopenia OMIM:619302
Hyperinsulinemic Hypoglycemia, Familial, 8
Elevated circulating thyroid-stimulating hormone concentration, Hypoglycemia, Hyperinsulinemia, H... OMIM:620211
Immunodeficiency 9
Failure to thrive, Lymphopenia, Death in infancy, Hypoplasia of the thymus, Abnormal natural kill... OMIM:612782
Persistent Mullerian Duct Syndrome, Types I And Ii
Inguinal hernia, Male infertility, Bilateral cryptorchidism OMIM:261550
Immunodeficiency 97 With Autoinflammation
Decreased proportion of CD4+CD25+ regulatory T cells, Reduced natural killer cell count, Granulom... OMIM:619802
Immunodeficiency 57 With Autoinflammation
Perianal abscess, Reduced natural killer cell count, T lymphocytopenia, B lymphocytopenia OMIM:618108
Folate Malabsorption, Hereditary
Failure to thrive, Leukopenia, Folate-responsive megaloblastic anemia, Thrombocytopenia, Neutropenia OMIM:229050
Bleeding Disorder, Platelet-Type, 19
Anemia, Macrothrombocytopenia, Thrombocytopenia, Menorrhagia OMIM:616176
Lipodystrophy, Familial Partial, Type 3
Insulin resistance, Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Type II... OMIM:604367
Autoinflammation With Infantile Enterocolitis
Reduced natural killer cell count, Pancytopenia, Splenomegaly, Thrombocytopenia, Anemia, Short st... OMIM:616050
Alpha-Thalassemia-Myelodysplastic Syndrome
Acute leukemia, HbH hemoglobin, Microcytic anemia, Splenomegaly, Neutropenia, Thrombocytopenia ORPHA:231401
Neutrophilia, Hereditary
Splenomegaly, Neutrophilia OMIM:162830
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Anemia, Splenomegaly, Persistence of hemoglobin F ORPHA:46532
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Thrombocytopenia OMIM:166990
Preeclampsia/Eclampsia 1
Thrombocytopenia OMIM:189800
Hyperinsulinism Due To Hnf1A Deficiency
Maturity-onset diabetes of the young, Large for gestational age, Hyperinsulinemia, Excessive insu... ORPHA:324575
Bilateral Striopallidodentate Calcinosis
Hepatomegaly, Abnormality of the liver, Thrombocytopenia ORPHA:1980
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, Splenomegaly, Abscess, Lymphadenopathy, Neutropenia, B lymphocytopenia, I... OMIM:150550
Hyperinsulinism-Hyperammonemia Syndrome
Hyperinsulinemic hypoglycemia, Asymptomatic hyperammonemia, Reactive hypoglycemia, Fasting hyperi... ORPHA:35878
Refractory Anemia
Normocytic anemia, Bone marrow hypocellularity, Anemia of inadequate production, Macrocytic anemi... ORPHA:98826
Hyperinsulinemic Hypoglycemia, Familial, 4
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:609975
Immunodeficiency 103, Susceptibility To Fungal Infections
Hypereosinophilia, Abnormal B cell count, Abnormal proportion of CD8-positive T cells, Abnormal p... OMIM:212050
Forsythe-Wakeling Syndrome
Thrombocytopenia, Decreased body weight OMIM:613606
Granulomatous disease with defect in neutrophil chemotaxis
Recurrent staphylococcal infections, Impaired neutrophil killing of staphylococci OMIM:233670
Congenital Dyserythropoietic Anemia Type Iii
Increased circulating iron concentration, Increased mean corpuscular volume, Increased total iron... ORPHA:98870
Leishmaniasis
Pancytopenia, Leukopenia, Splenomegaly, Abnormal macrophage morphology, Hepatomegaly, Weight loss... ORPHA:507
Agammaglobulinemia 3, Autosomal Recessive
Failure to thrive, Recurrent otitis media, Recurrent bronchitis, Agammaglobulinemia, Absent circu... OMIM:613501
Congenital Disorder Of Glycosylation, Type Iic
Pneumonia, Reduction of neutrophil motility, Cellulitis, Bronchiolitis, Periodontitis, Recurrent ... OMIM:266265
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Recurrent bacterial infections, Recurrent streptococcus pneumoniae infections, Recurrent staphylo... ORPHA:70592
Amegakaryocytic Thrombocytopenia, Congenital, 1
Pancytopenia, Thrombocytopenia, Amegakaryocytic thrombocytopenia OMIM:604498
Spermatogenic Failure 9
Globozoospermia, Male infertility OMIM:613958
Spermatogenic Failure 67
Globozoospermia, Male infertility OMIM:619803
Spermatogenic Failure 68
Globozoospermia, Male infertility OMIM:619805
Spermatogenic Failure 69
Globozoospermia, Male infertility OMIM:619826
Spermatogenic Failure 66
Globozoospermia, Male infertility OMIM:619799
Ring Chromosome Y Syndrome
Male hypogonadism, Female infertility, Abnormality of the male genitalia, Bifid scrotum, Gonadal ... ORPHA:261529
Pontocerebellar Hypoplasia, Type 14
Death in infancy, Chronic neutropenia, Thrombocytopenia OMIM:619301
Immunodeficiency 109 With Lymphoproliferation
Pancytopenia, Absent circulating B cells, Splenomegaly, Generalized lymphadenopathy OMIM:620282
Immunodeficiency 75 With Lymphoproliferation
Hepatosplenomegaly, Decreased proportion of class-switched memory B cells, Follicular hyperplasia... OMIM:619126
Insulin Autoimmune Syndrome
Insulin resistance, Insulin-resistant diabetes mellitus, Reactive hypoglycemia, Weight loss, Nonk... ORPHA:411593
Fanconi Anemia, Complementation Group G
Leukemia, Anemia, Neutropenia, Thrombocytopenia OMIM:614082
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hypersplenism, Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia OMIM:610539
Neutropenia, Severe Congenital, 10, Autosomal Recessive
Anorectal abscess, Monocytosis, Thrombocytopenia, Neutropenia, Anemia OMIM:620534
Amed Syndrome, Digenic
Bone marrow hypocellularity, Failure to thrive, Leukopenia, Acute myeloid leukemia, Adrenal hypop... OMIM:619151
Immunodeficiency, Common Variable, 3
Abnormal T cell count, Chronic decreased circulating total IgG, Recurrent otitis media, Decreased... OMIM:613493
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hemophagocytosis, Hepatosplenomegaly, Splenomegaly, Lymphadenopathy, Thrombocytopenia, Anemia OMIM:613101
Lymphoproliferative Syndrome, X-Linked, 1
Abnormal T cell count, Aplastic anemia, Hemophagocytosis, Pancytopenia, Abnormal B cell count, Sp... OMIM:308240
Mannose-Binding Lectin Deficiency
Recurrent Klebsiella infections, Failure to thrive, Recurrent meningococcal disease, Disseminated... OMIM:614372
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Reduced natural killer cell count, Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Splenomega... ORPHA:158057
Neutropenia-Monocytopenia-Deafness Syndrome
Abnormality of neutrophils, Abnormal macrophage morphology ORPHA:2690
Obesity Due To Prohormone Convertase I Deficiency
Failure to thrive, Decreased response to growth hormone stimulation test, Obesity, Hyperinsulinem... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Failure to thrive, Decreased response to growth hormone stimulation test, Obesity, Hyperinsulinem... ORPHA:71526
Immunodeficiency 15A
Decreased proportion of CD8-positive T cells, Decreased proportion of memory B cells, Decreased p... OMIM:618204
Stormorken Syndrome
Howell-Jolly bodies, Thrombocytopenia, Anemia, Asplenia, Hypoplastic spleen OMIM:185070
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
T lymphocytopenia DECIPHER:16
Spermatogenic Failure 52
Azoospermia, Male infertility OMIM:619202
Spermatogenic Failure 4
Azoospermia, Male infertility OMIM:270960
Spermatogenic Failure, Y-Linked, 2
Azoospermia, Male infertility OMIM:415000
Spermatogenic Failure 23
Azoospermia, Male infertility OMIM:617707
Deafness-Infertility Syndrome
Azoospermia, Male infertility ORPHA:94064
Lymphoproliferative Syndrome 1
Hemophagocytosis, Pancytopenia, Leukopenia, Decreased proportion of CD4-positive helper T cells, ... OMIM:613011
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Hyperinsulinemia, Hypoketotic hypoglycemia, Reactive hypoglycemia, Pancreatic islet-cell hyperpla... ORPHA:276608
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased CD4:CD8 ratio, Decreased proportion of CD4-positive helper T cells, Splenomegaly, Decre... OMIM:300853
Aicardi-Goutieres Syndrome 6
Hepatomegaly, Hemolytic anemia, Splenomegaly, Thrombocytopenia OMIM:615010
Sea-Blue Histiocytosis
Blepharitis, Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis ORPHA:158029
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia
Menorrhagia, Macrothrombocytopenia, Thrombocytopenia, Impaired platelet aggregation OMIM:124900
Polycythemia Vera
Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Increased circul... OMIM:263300
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant
Macrothrombocytopenia OMIM:619840
Immunodeficiency 69
Hemophagocytosis, Failure to thrive, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly... OMIM:618963
Poikiloderma With Neutropenia
Recurrent pneumonia, Sparse eyebrow, Sparse lateral eyebrow, Recurrent otitis media, Leukopenia, ... OMIM:604173
Immunodeficiency 64 With Lymphoproliferation
Increased proportion autoreactive unresponsive CD21-/low B cells, Abnormal CD4:CD8 ratio, Failure... OMIM:618534
Neutrophil Immunodeficiency Syndrome
Abnormality of neutrophil physiology, Leukocytosis ORPHA:183707
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
T lymphocytopenia, Failure to thrive, Failure to thrive secondary to recurrent infections, B lymp... OMIM:601457
Ciliary Dyskinesia, Primary, 41
Recurrent otitis media, Recurrent sinusitis, Immotile sperm, Infertility, Bronchiectasis OMIM:618449
Isolated Agammaglobulinemia
Failure to thrive, Abnormal lymphocyte morphology, Abnormality of the lymphatic system, Abnormali... ORPHA:229717
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Bone marrow hypocellularity, Increased mean corpuscular volume, Pancytopenia, Acute myeloid leuke... OMIM:619041
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Failure to thrive, Hypomagnesemia, Pancytopenia, Leukopenia, Hyperuricemia, Hyponatremia, Increas... OMIM:613845
Agammaglobulinemia, X-Linked
Lymph node hypoplasia, Prostatitis, Neutropenia, B lymphocytopenia, Anemia, Enteroviral hepatitis... OMIM:300755
Agammaglobulinemia 8B, Autosomal Recessive
B Acute Lymphoblastic Leukemia, Failure to thrive, Pancytopenia, Splenomegaly, Increased proporti... OMIM:619824
Systemic Lupus Erythematosus 17
Lymphopenia, Leukopenia, Autoimmune thrombocytopenia, Thrombocytopenia OMIM:301080
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Leukocytosis, Reticulocytosis, Splenomegaly, Anisocytosis, Heinz bodies, Fava bean-induced hemoly... OMIM:300908
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Failure to thrive, Decreased proportion of CD8-positive T cells, Lymphopenia, Hepatosplenomegaly,... ORPHA:169154
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Splenic infarction, Persistence of hemoglobin F, Increased red cell sickling tendency, Reticulocy... ORPHA:251380
Immunodeficiency 86
Decreased circulating IgG level, Impaired oxidative burst, BCGitis, Increased circulating IgM level OMIM:619549
Immunodeficiency 115 With Autoinflammation
Intestinal lymphangiectasia, Splenomegaly, Decreased proportion of memory T cells, Anemia, T lymp... OMIM:620632
Thrombocytopenia 7
Reduced platelet alpha granules, Impaired arachidonic acid-induced platelet aggregation, Reduced ... OMIM:619130
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Lymphopenia, Leukocytosis, Autoimmune hemolytic anemia, Interface hepatitis, Death in childhood, ... OMIM:243150
Down Syndrome
Polycythemia, Umbilical hernia, Obesity, Decreased fertility, Upslanted palpebral fissure, Acute ... ORPHA:870
Immunodeficiency 50
Lymphopenia, Neutropenia OMIM:300988
Reticuloendotheliosis, X-Linked
Anemia, Jaundice, Hepatosplenomegaly, Lymphadenopathy OMIM:312500
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Abnormally low T cell receptor excision circle level, Lymphadenitis, Lymphopenia, Hepatosplenomeg... OMIM:618986
Wiskott-Aldrich Syndrome 2
Decreased proportion of CD8-positive T cells, Thrombocytopenia OMIM:614493
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Pneumonia, Abnormal T cell count, Septic arthritis, Recurrent enteroviral infections, Conjunctivi... OMIM:307200
Bone Marrow Failure Syndrome 4
Anemia, Bone marrow hypocellularity, Leukopenia, Thrombocytopenia OMIM:618116
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Splenomegaly, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, ... ORPHA:231154
Laterality Defects, Autosomal Dominant
Asplenia OMIM:601086
Autoimmune Lymphoproliferative Syndrome, Type Iia
Chronic noninfectious lymphadenopathy, Autoimmune hemolytic anemia, Splenomegaly, Follicular hype... OMIM:603909
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Decreased proportion of CD4+CD25+ regulatory T cells, Lymphopenia, Follicular hyperplasia, Decrea... OMIM:619846
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Giant platelets, Leukocyte inclusion bodies, Impaired ADP-induced platelet aggregation, Thrombocy... OMIM:155100
Immunodeficiency By Defective Expression Of Mhc Class Ii
Abnormal CD4:CD8 ratio, Recurrent viral infections, Pancytopenia, Decreased proportion of CD4-pos... ORPHA:572
Aicardi-Goutieres Syndrome 4
Hepatosplenomegaly, Pancytopenia, Splenomegaly, Death in childhood, Thrombocytopenia, Hepatomegaly OMIM:610333
Babesiosis
Leukopenia, Splenomegaly, Thrombocytopenia, Hepatomegaly, Jaundice, Hemolytic anemia ORPHA:108
Primary Myelofibrosis
Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly, Throm... ORPHA:824
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Acute monocytic leukemia, Congenital agranulocytosis, Thrombocytosis, Recurrent bacterial infecti... OMIM:202700
Immunodeficiency 13
Lymphopenia, Decreased CD4:CD8 ratio, Decreased proportion of CD4-positive helper T cells, B lymp... OMIM:615518
Osteopetrosis, Autosomal Recessive 8
Failure to thrive, Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia OMIM:615085
Immunodeficiency 98 With Autoinflammation, X-Linked
Bone marrow hypocellularity, Type I diabetes mellitus, Hemophagocytosis, Agranulocytosis, Autoimm... OMIM:301078
Ataxia-Pancytopenia Syndrome
Acute myelomonocytic leukemia, Pancytopenia, Thrombocytopenia, Neutropenia, Anemia, Hypoplastic a... OMIM:159550
Congenital Toxoplasmosis
Failure to thrive in infancy, Hepatomegaly, Lymphadenopathy, Thrombocytopenia, Anemia, Jaundice ORPHA:858
Ziegler-Huang Syndrome
Bone marrow hypocellularity, Persistence of hemoglobin F, Hypogonadism, Cryptorchidism, Macrocyti... OMIM:620501
Transcobalamin Deficiency
Lymphopenia, Pancytopenia, Thrombocytopenia, Neutropenia ORPHA:859
Atypical Hemolytic Uremic Syndrome
Thrombocytopenia, Microangiopathic hemolytic anemia ORPHA:2134
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Abnormal reticulocyte morphology, Elliptocytosis, Macrocytic anemia, Anisocytosis, Neutropenia, P... OMIM:300835
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Hepatosplenomegaly, Congenital thrombocytopenia, Neutropenia, Thrombocytopenia, Anemia, Hydrocele... OMIM:616738
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Large for gestational age, Excess... ORPHA:276575
Proteasome-Associated Autoinflammatory Syndrome 2
Decreased proportion of memory B cells, Failure to thrive, Lymphadenopathy, Thrombocytopenia, B l... OMIM:618048
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Large for gestational age, Excess... ORPHA:276580
Insulinomatosis And Diabetes Mellitus
Insulinoma, Type II diabetes mellitus, Multiple pancreatic beta-cell adenomas, Hyperinsulinemic h... OMIM:147630
Ataxia-Telangiectasia
Failure to thrive, Lymphopenia, Decreased proportion of CD4-positive helper T cells, Abnormal B c... OMIM:208900
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Lymphopenia, Hemolytic anemia, Thrombocytopenia, Genital ulcers OMIM:616744
Activated Pi3K-Delta Syndrome
Recurrent tonsillitis, Failure to thrive, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Hepat... ORPHA:397596
Immunodeficiency 62
Decreased proportion of memory B cells, Autoimmune thrombocytopenia, Increased proportion of tran... OMIM:618459
Short Fifth Metacarpals-Insulin Resistance Syndrome
Hyperinsulinemia, Spherocytosis, Splenomegaly ORPHA:66518
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Failure to thrive, Lymphopenia, Hepatosplenomegaly, Leukopenia, Splenomegaly, Cryptorchidism, Ery... OMIM:612541
Neutropenia, Severe Congenital, 7, Autosomal Recessive
Neutropenia OMIM:617014
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Failure to thrive, Splenomegaly, Hepatomegaly, Pancreatitis, Thrombocytopenia, Neutropenia, Anemia ORPHA:79312
Agammaglobulinemia 8A, Autosomal Dominant
B lymphocytopenia OMIM:616941
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Short stature, Neutropenia ORPHA:90023
Immunodeficiency, Common Variable, 1
Abnormal T cell count, Splenomegaly, Decreased proportion of class-switched memory B cells, Lymph... OMIM:607594
Immunodeficiency 55
Absent natural killer cells, Postnatal growth retardation, Lymphopenia, Intrauterine growth retar... OMIM:617827
Malaria
Anemia, Thrombocytopenia ORPHA:673
Immunodeficiency 46
Anemia, Failure to thrive, Neutropenia, Intermittent thrombocytopenia OMIM:616740
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Increased blood... OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Increased blood... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Increased blood... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Increased blood... OMIM:612926
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Mody
Abnormal circulating insulin concentration, Abnormal oral glucose tolerance, Glycosuria, Insulin-... ORPHA:552
Alpha-Thalassemia Myelodysplasia Syndrome
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia OMIM:300448
Stuve-Wiedemann Syndrome 2
Neonatal death, Death in adolescence, Thrombocytopenia, Stillbirth OMIM:619751
Immunodeficiency 114, Folate-Responsive
Lymphopenia, Splenomegaly, Megaloblastic anemia, Thrombocytopenia, Hepatomegaly OMIM:620603
Agammaglobulinemia 4, Autosomal Recessive
Decreased circulating IgG level, Recurrent pneumonia, Recurrent otitis media, Decreased circulati... OMIM:613502
Lissencephaly Syndrome, Norman-Roberts Type
Hypoplastic spleen ORPHA:89844
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Fluctuating splenomegaly, Autoimmune hemolytic anemia, Death in childhood, Lymphadenopathy, Neutr... OMIM:619220
Dyskeratosis Congenita
Bone marrow hypocellularity, Blepharitis, Periodontitis, Recurrent respiratory infections, Abnorm... ORPHA:1775
Agammaglobulinemia 6, Autosomal Recessive
Decreased circulating IgG level, Recurrent pneumonia, Recurrent otitis media, Decreased circulati... OMIM:612692
Thrombocytopenia 9
Abnormal platelet aggregation, Thrombocytopenia, Decreased circulating thrombopoietin concentration OMIM:620478
Gaucher Disease, Type Iii
Pancytopenia, Splenomegaly, Decreased body weight, Thrombocytopenia, Hepatomegaly OMIM:231000
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Obstructive azoospermia, Non-obstructive azoospermia, Decreased testicular size, Azoospermia, Abn... ORPHA:399805
17Q23.1Q23.2 Microdeletion Syndrome
Highly arched eyebrow, Congenital contracture, Failure to thrive, Long eyelashes, Epicanthus, Sha... ORPHA:261279
Fetal Gaucher Disease
Abnormality of the spleen, Pancytopenia, Splenomegaly, Death in infancy, Neonatal death, Thromboc... ORPHA:85212
Bleeding Disorder, Platelet-Type, 20
Menorrhagia, Thrombocytopenia OMIM:616913
Von Willebrand Disease, Type 2
Menorrhagia, Thrombocytopenia OMIM:613554
Thanatophoric Dysplasia, Glasgow Variant
Anemia, Hepatosplenomegaly, Neonatal death OMIM:273680
Bleeding Disorder, Platelet-Type, 24
Platelet anisocytosis, Impaired arachidonic acid-induced platelet aggregation, Impaired epinephri... OMIM:619271
Agammaglobulinemia 2, Autosomal Recessive
Recurrent pneumonia, Recurrent otitis media, Decreased circulating IgA level, Agammaglobulinemia,... OMIM:613500
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Abnormal T cell count, Lymphadenitis, Failure to thrive, Lymphopenia, Hepatosplenomegaly, Decreas... ORPHA:331206
Autosomal Recessive Spastic Paraplegia Type 46
Decreased testicular size, Infertility, Abnormal sperm head morphology, Reduced sperm motility, A... ORPHA:320391
Rh Deficiency Syndrome
Stomatocytosis, Hepatosplenomegaly, Hyperbilirubinemia, Reticulocytosis, Reduced haptoglobin leve... ORPHA:71275
Homozygous 11P15-P14 Deletion Syndrome
Hyperinsulinemia, Failure to thrive, Hypoglycemia OMIM:606528
Fetal Parvovirus Syndrome
Anemia, Thrombocytopenia ORPHA:295
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Lymphopenia, Reduced natural killer cell count, Cutaneous abscess, Neutropenia OMIM:619752
T-Cell Immunodeficiency With Thymic Aplasia
Abnormally low T cell receptor excision circle level, Failure to thrive, Lymphopenia, Hepatosplen... OMIM:242700
Gracile Bone Dysplasia
Failure to thrive, Death in infancy, Micropenis, Asplenia, Hypoplastic spleen OMIM:602361
Specific Granule Deficiency 2
Recurrent pneumonia, Sepsis, Failure to thrive, Recurrent otitis media, Recurrent bacterial infec... OMIM:617475
Beta-Thalassemia
Cholelithiasis, Hepatitis, Microcytic anemia, Splenomegaly, Abnormal hemoglobin, Hypogonadotropic... ORPHA:848
Immunodeficiency 68
Lymphadenitis, Abscess, B lymphocytopenia, Abnormal natural killer cell count, T lymphocytopenia OMIM:612260
Deafness-Lymphedema-Leukemia Syndrome
Bone marrow hypocellularity, Acute leukemia, Leukocytosis, Splenomegaly, Weight loss, Lymphadenop... ORPHA:3226
Anemia, Sideroblastic, And Spinocerebellar Ataxia
Howell-Jolly bodies, Sideroblastic anemia, Pappenheimer bodies, Erythroid hyperplasia, Anisocytos... OMIM:301310
Stormorken-Sjaastad-Langslet Syndrome
Anemia, Asplenia, Abnormality of thrombocytes ORPHA:3204
Chronic Myeloid Leukemia
Abnormal granulocyte morphology, Leukocytosis, Splenomegaly, Abnormal basophil morphology, Thromb... ORPHA:521
Immunodeficiency 110 With Lymphoproliferation
Recurrent upper respiratory tract infections, Recurrent viral infections, Recurrent pneumonia, Ch... OMIM:614868
Hemophagocytic Lymphohistiocytosis, Familial, 3
Anemia, Hepatosplenomegaly, Hemophagocytosis, Granulocytopenia OMIM:608898
Griscelli Syndrome, Type 2
Recurrent bacterial infections, Hepatosplenomegaly, Hemophagocytosis, Reduced delayed hypersensit... OMIM:607624
Familial Partial Lipodystrophy, Köbberling Type
Insulin resistance, Hyperinsulinemia, Diabetes mellitus, Lipoatrophy ORPHA:79084
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Increased blood... OMIM:612925
Thrombocytopenia With Beta-Thalassemia, X-Linked
Increased RBC distribution width, Reduced platelet alpha granules, Reticulocytosis, Splenomegaly,... OMIM:314050
Ciliary Dyskinesia, Primary, 14
Abnormal axonemal organization of respiratory motile cilia, Recurrent pneumonia, Polysplenia, Oti... OMIM:613807
Spermatogenic Failure 77
Azoospermia, Multiflagellar spermatozoa, Cryptorchidism, Elevated circulating follicle stimulatin... OMIM:620103
Cyanosis, Transient Neonatal
Anemia, Methemoglobinemia, Reticulocytosis OMIM:613977
Noonan Syndrome 12
Decreased response to growth hormone stimulation test, Lymphopenia, Thrombocytopenia OMIM:618624
Ras-Associated Autoimmune Leukoproliferative Disorder
Pancytopenia, Splenomegaly, Follicular hyperplasia, Hepatomegaly, Lymphocytosis, Neutropenia, Mon... OMIM:614470
Neutropenia, Severe Congenital, 2, Autosomal Dominant
B lymphocytopenia, Neutropenia, Monocytosis OMIM:613107
Erythrocytosis, Familial, 8
Polycythemia, Increased hematocrit, Splenomegaly, Increased circulating hemoglobin concentration,... OMIM:222800
Spondylometaphyseal Dysplasia, Axial
Recurrent pneumonia, Splenomegaly, Reduced sperm motility OMIM:602271
Immunodeficiency 91 And Hyperinflammation
Neutrophilia, Hemophagocytosis, Failure to thrive, Hepatosplenomegaly, Death in childhood, Death ... OMIM:619644
Anemia, Sideroblastic, 5
Reduced hematocrit, Hypochromic microcytic anemia, Thrombocytopenia, Anemia, Neutropenia OMIM:619523
Body Mass Index Quantitative Trait Locus 19
Insulin resistance, Increased serum leptin, Obesity, Hyperinsulinemia, Hyperlipidemia, Hypertrigl... OMIM:617885
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Decreased mean platelet volume, Cellulitis, Recurrent pneumonia, Inflammation of the large intest... OMIM:617718
Immunodeficiency, Common Variable, 13
Pancytopenia, Acute lymphoblastic leukemia, B lymphocytopenia OMIM:616873
Obesity Due To Congenital Leptin Deficiency
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte... ORPHA:66628
Roch-Leri Mesosomatous Lipomatosis
Thrombocytopenia ORPHA:529
Hypoglycemia, Leucine-Induced
Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:240800
Phosphoglycerate Dehydrogenase Deficiency
Decreased testicular size, Megaloblastic anemia, Thrombocytopenia OMIM:601815
Orotic Aciduria
Folate-unresponsive megaloblastic anemia, Failure to thrive, Anisocytosis, Hypochromia, Poikilocy... OMIM:258900
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity
Postnatal growth retardation, Pancytopenia, Intrauterine growth retardation OMIM:600546
Immunodeficiency, Common Variable, 2
Decreased circulating IgG level, Abnormal T cell count, Recurrent pneumonia, Conjunctivitis, Impa... OMIM:240500
Familial Peripheral Male-Limited Precocious Puberty
Precocious puberty, Long penis, Oligozoospermia, Macroorchidism, Acne, Male infertility ORPHA:3000
Lead Poisoning
Small for gestational age, Decreased male libido, Imbalanced hemoglobin synthesis, Reduced sperm ... ORPHA:330015
Immunodeficiency, Common Variable, 4
Decreased circulating IgG level, Abnormal T cell count, Recurrent pneumonia, Recurrent sinusitis,... OMIM:613494
Tularemia
Brain abscess, Cutaneous abscess, Cervical lymphadenopathy, Abnormal nasopharyngeal adenoid morph... ORPHA:3392
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Type I diabetes mellitus, Failure to thrive, Hepatitis, Decreased FOXP3-expressing T cell count, ... OMIM:304790
Bleeding Disorder, Platelet-Type, 16
Platelet anisocytosis, Giant platelets, Thrombocytopenia, Impaired platelet aggregation, Anemia, ... OMIM:187800
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of memory ... OMIM:615559
Wilson Disease
Failure to thrive, Hepatitis, Abnormality of the menstrual cycle, Acute hepatitis, Splenomegaly, ... ORPHA:905
Transaldolase Deficiency
Hepatosplenomegaly, Cirrhosis, Thrombocytopenia, Anemia, Abnormal clitoris morphology ORPHA:101028
Dyskeratosis Congenita, Autosomal Recessive 8
Reduced natural killer cell count, Pancytopenia, Intrauterine growth retardation, B lymphocytopenia OMIM:620133
Isolated Follicle Stimulating Hormone Deficiency
Male hypogonadism, Decreased testicular size, Azoospermia, Delayed menarche, Decreased female lib... ORPHA:52901
Thrombotic Thrombocytopenic Purpura, Hereditary
Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Reticulocytosis... OMIM:274150
Ciliary Dyskinesia, Primary, 46
Recurrent pneumonia, Recurrent otitis media, Recurrent sinusitis, Reduced sperm motility, Bronchi... OMIM:619436
Combined Immunodeficiency Due To Zap70 Deficiency
Recurrent viral infections, Lymphadenitis, Decreased proportion of CD8-positive T cells, Hepatosp... ORPHA:911
Cholesteryl Ester Storage Disease
Hepatic bridging fibrosis, Hepatic fibrosis, Periportal fibrosis, Failure to thrive, Increased he... OMIM:278000
Fanconi Anemia, Complementation Group T
Bone marrow hypocellularity, Pancytopenia, Acute myeloid leukemia, Thrombocytopenia, Anemia OMIM:616435
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Increased B cell count, Hepatosplenomegaly, Lymphadenopathy, Increased proportion of memory T cells OMIM:618982
Acute Promyelocytic Leukemia
Pancytopenia, Leukopenia, Leukocytosis, Metrorrhagia, Weight loss, Lymphadenopathy, Neutropenia, ... ORPHA:520
Bleeding Disorder, Platelet-Type, 25
Impaired ADP-induced platelet aggregation, Thrombocytopenia, Macrothrombocytopenia, Impaired coll... OMIM:620486
Pgm3-Cdg
Reduced natural killer cell count, Abnormal CD4:CD8 ratio, Cutaneous abscess, Lymphopenia, Leukop... ORPHA:443811
Immunodeficiency With Hyper-Igm, Type 5
Decreased circulating IgG level, Decreased circulating IgA level, Impaired Ig class switch recomb... OMIM:608106
Severe Neurodegenerative Syndrome With Lipodystrophy
Insulin resistance, Generalized lipodystrophy, Hyperinsulinemia, Limb dystonia, Reduced subcutane... ORPHA:363400
Immunodeficiency 43
Reduced natural killer cell count, Lung abscess, B lymphocytopenia OMIM:241600
Aggressive Systemic Mastocytosis
Hepatosplenomegaly, Pancytopenia, Hypersplenism, Leukocytosis, Increased proportion of CD25+ mast... ORPHA:98850
Obesity Due To Leptin Receptor Gene Deficiency
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte... ORPHA:179494
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Inflammation of the large intestine, Hypopituitarism, Recurrent otitis media, Increased circulati... ORPHA:98813
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Splenomegaly, Decreased proportion of class-switched memory B cells, Coombs-positive hemolytic an... OMIM:619375
Reticular Dysgenesis
Failure to thrive, Aplasia/Hypoplasia of the thymus, Leukopenia, Weight loss, Anemia, Abnormality... ORPHA:33355
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Recurrent bacterial infections, Recurrent viral infections, Abnormality of T cell physiology, Rec... OMIM:308220
Rhabdoid Tumor
Neoplasm of the liver, Weight loss, Lymphadenopathy, Thrombocytopenia, Anemia ORPHA:69077
Dominant Beta-Thalassemia
Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Failure to thriv... ORPHA:231226
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Short stature, Reduced natural killer cell count, T lymphocytopenia OMIM:242860
Aregenerative Anemia
Bone marrow hypocellularity, Pancytopenia, Decreased proportion of CD4-positive helper T cells, A... ORPHA:101096
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Decreased proportion of CD4+CD25+ regulatory T cells, Type I diabetes mellitus, Failure to thrive... OMIM:606367
Spermatogenic Failure, X-Linked, 2
Spermatogenesis maturation arrest, Azoospermia, Testicular atrophy, Male infertility OMIM:309120
Immunodeficiency 14B, Autosomal Recessive
Neutrophilia, Thrombocytosis, Leukocytosis, B lymphocytopenia, Monocytosis OMIM:619281
Cyclic Neutropenia
Recurrent tonsillitis, Cervical lymphadenopathy, Lymphopenia, Cyclic neutropenia, Perianal absces... ORPHA:2686
Wolfram Syndrome, Mitochondrial Form
Sideroblastic anemia, Megaloblastic anemia, Neutropenia, Thrombocytopenia, Diabetes insipidus, Di... OMIM:598500
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Allergic rhinitis, Recurrent viral infections, Recurrent otitis media, Molluscum contagiosum, Inc... OMIM:243700
Autosomal Dominant Severe Congenital Neutropenia
Pneumonia, Cellulitis, Recurrent viral infections, Aplastic anemia, Periodontitis, Lymphopenia, R... ORPHA:486
Burkitt Lymphoma
Abnormal lymph node morphology, Abnormality of the ovary, Abnormality of the spleen, Abnormality ... ORPHA:543
Ataxia-Pancytopenia Syndrome
Acute myelomonocytic leukemia, Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Hypopl... ORPHA:2585
Keratosis Follicularis Spinulosa Decalvans, X-Linked
Sparse eyebrow, Folliculitis, Keratitis, Sparse eyelashes, Scarring alopecia of scalp, Ectropion,... OMIM:308800
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Increased mean corpuscular volume, Elevated red cell adenosine deaminase activity, Persistence of... OMIM:300946
Bernard-Soulier Syndrome
Giant platelets, Thrombocytopenia, Impaired ristocetin-induced platelet aggregation, Macrothrombo... OMIM:231200
Congenital Disorder Of Glycosylation, Type Iik
Hepatomegaly, Failure to thrive, Thrombocytopenia OMIM:614727
Acute Erythroid Leukemia
Bone marrow hypocellularity, Pancytopenia, Leukopenia, Erythroid hypoplasia, Anemia ORPHA:318
Immunodeficiency With Hyper-Igm, Type 4
Recurrent upper respiratory tract infections, Osteomyelitis, Recurrent infection of the gastroint... OMIM:608184
Immunodeficiency 27A
Hepatosplenomegaly, Leukocytosis, Splenomegaly, Weight loss, Lymphadenopathy, Thrombocytosis, Ane... OMIM:209950
Congenital Disorder Of Glycosylation, Type Ix
Small scrotum, Failure to thrive, Cryptorchidism, Death in childhood, Thrombocytopenia, Micropenis OMIM:615597
B-Cell Expansion With Nfkb And T-Cell Anergy
Increased B cell count, Splenomegaly OMIM:616452
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Decreased proportion of memory B cells, Absence of lymph node germinal center, Failure to thrive ... ORPHA:79124
Dk Phocomelia Syndrome
Thrombocytopenia OMIM:223340
Gamma-Heavy Chain Disease
Abnormal lymphocyte morphology, Splenomegaly, Autoimmune hemolytic anemia, Hepatomegaly, Lymphade... ORPHA:100026
Retinitis Pigmentosa And Erythrocytic Microcytosis
Decreased circulating iron concentration, Leukopenia, Elliptocytosis, Anisocytosis, Hypochromia, ... OMIM:616959
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant
Sparse eyebrow, Folliculitis, Keratitis, Sparse eyelashes, Scarring alopecia of scalp, Enamel hyp... OMIM:612843
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Asplenia OMIM:618948
Insulinoma
Abnormality of the pancreatic islet cells, Neuroendocrine neoplasm, Pituitary prolactin cell aden... ORPHA:97279
Immunodeficiency With Hyper-Igm, Type 3
Decreased circulating IgG level, Impaired memory B cell generation, Decreased circulating IgA lev... OMIM:606843
Spermatogenic Failure 75
Non-obstructive azoospermia, Elevated circulating follicle stimulating hormone level, Male infert... OMIM:619949
3-Methylglutaconic Aciduria Type 4
Failure to thrive, Thrombocytopenia ORPHA:67048
Drug-Induced Lupus Erythematosus
Elevated circulating creatine kinase concentration, Anemia, Increased blood urea nitrogen, Thromb... ORPHA:231111
Immunodeficiency 17
Abnormal B cell morphology, Anoperineal fistula, Failure to thrive, Decreased proportion of CD8-p... OMIM:615607
Immunodeficiency 36 With Lymphoproliferation
Lymphopenia, Splenomegaly, Chronic lymphatic leukemia, Increased proportion of transitional B cel... OMIM:616005
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome
Thrombocytopenia, Iron deficiency anemia, Neutropenia, Increased mean platelet volume ORPHA:494444
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia OMIM:252270
T-Cell Immunodeficiency With Thymic Aplasia
Aplasia of the thymus, Meningitis, Chronic otitis media, Opportunistic infection, Eczematoid derm... ORPHA:83471
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Delayed thelarche, Dorsocervical fat pad, Delayed puberty, Hyperinsulinemic hypoglycemia, Diabete... OMIM:616033
Erythrocytosis, Familial, 1
Increased circulating hemoglobin concentration, Increased hematocrit, Splenomegaly, Increased red... OMIM:133100
Isovaleric Acidemia
Bone marrow hypocellularity, Pancytopenia, Leukopenia, Thrombocytopenia OMIM:243500
Mhc Class Ii Deficiency 1
Cutaneous anergy, Recurrent upper respiratory tract infections, Recurrent viral infections, Chron... OMIM:209920
Kid Syndrome
Posterior blepharitis, Aplastic/hypoplastic lacrimal glands, Psoriasiform dermatitis, Sparse eyel... ORPHA:477
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
Camptodactyly, Flexion contracture, Failure to thrive, Anisocytosis OMIM:604273
Bleeding Disorder, Platelet-Type, 22
Impaired arachidonic acid-induced platelet aggregation, Impaired ADP-induced platelet aggregation... OMIM:618462
Selective Igm Deficiency
Allergic rhinitis, Cellulitis, Rheumatoid arthritis, Lymphadenitis, Decreased proportion of CD8-p... ORPHA:331235
Immunodeficiency With Hyper-Igm, Type 1
Enteroviral encephalitis, Increased circulating IgA level, Neutropenia, Meningitis, Recurrent low... OMIM:308230
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Obesity, Hyperinsulinemia ORPHA:329249
Azoospermia, Obstructive, With Nephrolithiasis
Obstructive azoospermia, Male infertility, Spermatocele OMIM:301060
Platelet Signal Processing Defect
Impaired collagen-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Thromb... OMIM:173590
Leukocyte Adhesion Deficiency
Lymphocytic interstitial pneumonia, Impaired neutrophil chemotaxis, Acute myeloid leukemia, Glome... ORPHA:2968
Platelet Glycoprotein Iv Deficiency
Giant platelets, Thrombocytopenia OMIM:608404
Atelis Syndrome 1
Anemia, Leukopenia, Hypothyroidism, Thrombocytopenia OMIM:620184
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Diffuse pancreatic islet hyperplasia, Increased circulating cortisol level, Recurrent hypoglycemi... ORPHA:79644
Hyperinsulinism Due To Ucp2 Deficiency
Diffuse pancreatic islet hyperplasia, Recurrent hypoglycemia, Large for gestational age, Excessiv... ORPHA:276556
Non-Involuting Congenital Hemangioma
Hepatic hemangioma, Thrombocytopenia ORPHA:141179
Agammaglobulinemia 10, Autosomal Dominant
Type I diabetes mellitus, Transient neutropenia, Absent circulating B cells OMIM:619707
Flotch Syndrome
Sparse eyelashes, Abnormal eyelid morphology, Inflammatory abnormality of the eye, Abnormal eyela... ORPHA:2045
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Discoid lupus rash, Cellulitis, Recurrent Klebsiella infections, Recurrent pneumonia, Lymphadenit... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Discoid lupus rash, Cellulitis, Recurrent Klebsiella infections, Recurrent pneumonia, Lymphadenit... OMIM:233710
Thrombocytopenia 5
Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Neutropenia, Thrombocytopenia,... OMIM:616216
Eosinophilic Fasciitis
Cellulitis, Abnormal eosinophil morphology, Fasciitis, Myositis, Eosinophilia, Weight loss, Arthr... ORPHA:3165
Vitamin B12-Unresponsive Methylmalonic Acidemia
Leukopenia, Macrocytic anemia, Hepatomegaly, Pancreatitis, Thrombocytopenia, Anemia ORPHA:27
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Gonadal dysgenesis, Decreased proportion of CD8-positive T cells, Decreased proportion of CD4-pos... OMIM:611926
Inflammatory Skin And Bowel Disease, Neonatal, 1
Failure to thrive, Increased circulating IgE level, Pustule, Erythroderma, Blepharitis OMIM:614328
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Short stature, Neutropenia OMIM:610798
Spermatogenic Failure 15