Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
NCK associated protein 1 like
Synonyms:
4930568P13Rik,  Hem1

IMPC Data Collections

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

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.

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 Nckap1l 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 Nckap1l by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Herpes simplex encephalitis, Increased circulating IgE level, Recurrent otitis media, Hepatosplen... OMIM:618982

The table below shows human diseases predicted to be associated to Nckap1l by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Immunodeficiency 79
Decreased proportion of CD4-positive T cells OMIM:619238
Immunodeficiency 15A
Decreased proportion of CD8-positive T cells, Decreased proportion of memory B cells, Decreased p... OMIM:618204
Combined Immunodeficiency, X-Linked
Abnormal T cell count, Decreased proportion of CD8-positive T cells, Decreased proportion of CD4-... OMIM:312863
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
T lymphocytopenia ORPHA:169095
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Lymphadenitis, Decreased lymphocyte proliferation in response to anti-CD3, Recurrent otitis media... OMIM:618986
Immunodeficiency 18
Reduced natural killer cell count, Lymphopenia, Abnormal B cell count, Decreased proportion of CD... OMIM:615615
Immunodeficiency 116
Absence of CD8-positive T cells OMIM:608957
Wiskott-Aldrich Syndrome 2
Decreased proportion of CD8-positive T cells, Thrombocytopenia OMIM:614493
Immunodeficiency 112
Reduced natural killer cell count, Increased T cell count, Decreased proportion of class-switched... OMIM:620449
Immunodeficiency 48
Failure to thrive, Abnormal B cell count, Splenomegaly, Impaired lymphocyte transformation with p... OMIM:269840
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Increased circulating antibody level, Hep... OMIM:615285
Agammaglobulinemia 7, Autosomal Recessive
Reduced natural killer cell count, Neutropenia, Abnormal T cell morphology OMIM:615214
Immunodeficiency, partial combined, with absence of hla determinantsand beta-2-microglobulin from lymphocytes
T lymphocytopenia OMIM:242870
Immunodeficiency 15B
Reduced natural killer cell count, Failure to thrive, Monocytosis OMIM:615592
Immunodeficiency 105
Reduced natural killer cell count, Lymphopenia, Hepatosplenomegaly, Pancytopenia, Impaired lympho... OMIM:619924
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Abnormally low T cell receptor excision circle level, Pneumonia, Recurrent upper respiratory trac... OMIM:602450
Immunodeficiency 19
Abnormal B cell morphology, T lymphocytopenia, Abnormal natural killer cell morphology, Failure t... OMIM:615617
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Lymphopenia, Lymph node hypoplasia, Decreased proportion of CD4-positive helper T cells, Abnormal... ORPHA:276
Anemia, Congenital Dyserythropoietic, Type Iv
Persistence of hemoglobin F, Hepatosplenomegaly, Hyperbilirubinemia, Anemia of inadequate product... OMIM:613673
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hepatitis, Recurrent otitis media, Lymphopenia, Splenomegaly, Autoimmune hemolytic anemia, Respir... ORPHA:444463
Purine Nucleoside Phosphorylase Deficiency
Hypouricemia, Decreased urinary urate, Lymphopenia, Lymph node hypoplasia, Recurrent lower respir... OMIM:613179
Immunodeficiency, Common Variable, 5
Abnormal T cell count, Abnormal B cell count OMIM:613495
Immunodeficiency 89 And Autoimmunity
Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 27 concentrati... OMIM:619632
Agammaglobulinemia, X-Linked
Recurrent otitis media, Lymph node hypoplasia, Prostatitis, Neutropenia, Recurrent lower respirat... OMIM:300755
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Agammaglobulinemia, Lymphopenia, Hypoplasia of the thymus OMIM:200900
Severe Combined Immunodeficiency, X-Linked
Pneumonia, Decreased circulating IgG level, Recurrent pneumonia, Decreased circulating IgA level,... OMIM:300400
Dehydrated Hereditary Stomatocytosis
Neonatal hyperbilirubinemia, Anemia of inadequate production, Increased circulating hemoglobin co... ORPHA:3202
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Aminoaciduria, Nephrocalcinosis, Cardiomyopathy, Sideroblastic anemia, Splenomegaly, B lymphocyto... OMIM:616084
Immunodeficiency 24
Decreased proportion of memory B cells, Reduced proportion of mucosal-associated invariant T cell... OMIM:615897
Immunodeficiency 57 With Autoinflammation
Reduced natural killer cell count, Failure to thrive, Perianal abscess, B lymphocytopenia, T lymp... OMIM:618108
Combined Cellular And Humoral Immune Defects With Granulomas
T lymphocytopenia, B lymphocytopenia OMIM:233650
Immunodeficiency 81
Abnormally low T cell receptor excision circle level, Autoimmune hemolytic anemia, Decreased prop... OMIM:619374
Lymphoproliferative Syndrome 3
Reduced natural killer cell count, Hepatosplenomegaly OMIM:618261
Immunodeficiency 97 With Autoinflammation
Hemophagocytosis, Decreased proportion of CD8-positive T cells, Lymphopenia, Hepatosplenomegaly, ... OMIM:619802
Anemia, Congenital Dyserythropoietic, Type Ia
Macrocytic dyserythropoietic anemia, Increased circulating lactate dehydrogenase concentration, E... OMIM:224120
Immunodeficiency 20
Reduced natural killer cell count OMIM:615707
Dehydrated Hereditary Stomatocytosis 2
Increased mean corpuscular volume, Increased mean corpuscular hemoglobin concentration, Thrombocy... OMIM:616689
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Decreased proportion of CD8-positive T cells, Failure to thrive in infancy, Decreased proportion ... OMIM:617241
Hemoglobin D Disease
Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno... ORPHA:90039
Autoimmune Lymphoproliferative Syndrome
Vasculitis, Reduced delayed hypersensitivity, Chronic noninfectious lymphadenopathy, Autoimmune h... OMIM:601859
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
T lymphocytopenia DECIPHER:16
Specific Granule Deficiency 1
Recurrent pneumonia, Increased neutrophil mitochondria, Increased neutrophil ribosomes, Absent ne... OMIM:245480
Immunodeficiency 52
Increased proportion of gamma-delta T cells, Failure to thrive, Lymphopenia, Abnormal B cell coun... OMIM:617514
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
T lymphocytopenia, Decreased helper T cell proportion OMIM:601705
Immunodeficiency 21
Reduced natural killer cell count, Aplastic anemia, Lymphopenia, Anemia, Neutropenia, B lymphocyt... OMIM:614172
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Splenic infarction, Persistence of hemoglobin F, Increased red cell sickling tendency, Reticulocy... ORPHA:251380
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Decreased helper T cell proportion, Pancytopenia, Splenomegaly, Hypersplenism OMIM:183350
Lymphoproliferative Syndrome, X-Linked, 2
Inflammation of the large intestine, Folliculitis, Aplastic anemia, Hemophagocytosis, Hepatitis, ... OMIM:300635
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Bone marrow hypocellularity, Megaloblastic erythroid hyperplasia, Hypochromic ... ORPHA:75564
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
Abnormally low T cell receptor excision circle level, T lymphocytopenia OMIM:618806
Hemoglobin E Disease
Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Splenomega... ORPHA:2133
Mcleod Syndrome
Elevated gamma-glutamyltransferase level, Dilated cardiomyopathy, Increased circulating lactate d... OMIM:300842
Autoimmune Lymphoproliferative Syndrome, Type Iia
Follicular hyperplasia, Increased circulating IgA level, Hepatomegaly, Nephrotic syndrome, Autoim... OMIM:603909
Hyperbilirubinemia, Shunt, Primary
Erythroid hyperplasia, Hyperbilirubinemia, Splenomegaly, Anemia of inadequate production, Reticul... OMIM:237800
Macrophage Activation Syndrome
Hemophagocytosis, Elevated circulating alanine aminotransferase concentration, Neutropenia, Hepat... ORPHA:158061
Q Fever
Hepatosplenomegaly, Increased circulating antibody level, Hematuria, Hepatomegaly, Endocarditis, ... ORPHA:781
Reticular Dysgenesis
Impaired T cell function, Lack of T cell function, Lymphopenia, Leukopenia, Congenital agranulocy... OMIM:267500
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Increased circulating iron concentration, Reduced red cell pyruvate kinase level, Increased circu... ORPHA:766
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature
Lymphopenia, Leukopenia, Elevated circulating creatinine concentration, Reduced haptoglobin level... OMIM:301110
Megaloblastic Anemia, Folate-Responsive
Increased circulating lactate dehydrogenase concentration, Increased circulating ferritin concent... OMIM:601775
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Decreased lymphocyte proliferation in response to mitogen, Recurrent upper respiratory tract infe... ORPHA:169154
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Abnormally low T cell receptor excision circle level, Failure to thrive in infancy, B lymphocytop... OMIM:618987
Immunodeficiency 103, Susceptibility To Fungal Infections
Hypereosinophilia, Abnormal B cell count, Abnormal proportion of CD8-positive T cells, Abnormal p... OMIM:212050
Immunodeficiency 85 And Autoimmunity
Decreased proportion of memory B cells, Reduced natural killer cell count, Failure to thrive in i... OMIM:619510
Anemia, Congenital Dyserythropoietic, Type Ib
Erythroid hyperplasia, Splenomegaly, Anemia of inadequate production, Anisocytosis, Reticulocytos... OMIM:615631
Dominant Beta-Thalassemia
Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hypopituitarism,... ORPHA:231226
Majeed Syndrome
Acne, Inflammatory abnormality of the skin, Osteomyelitis, Leukocytosis, Splenomegaly, Proteinuri... ORPHA:77297
Immunodeficiency 8 With Lymphoproliferation
Recurrent upper respiratory tract infections, Recurrent otitis media, Lymphopenia, Complete or ne... OMIM:615401
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased proportion of CD8-positive T cells, Decreased proportion of CD4-positive helper T cells OMIM:611926
Immunodeficiency 102
Reduced natural killer cell count, Increased proportion of CD8-positive, alpha-beta TEMRA T cells... OMIM:301082
Beta-Thalassemia Major
Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hypopituitarism,... ORPHA:231214
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Pneumonia, Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mit... ORPHA:169160
Immunodeficiency 51
Pneumonia, Folliculitis, Cutaneous abscess, Eczematoid dermatitis, Chronic mucocutaneous candidia... OMIM:613953
Immunodeficiency 104
Pneumonia, Eczematoid dermatitis, Chronic mucocutaneous candidiasis, Recurrent otitis media, Sple... OMIM:608971
Glut1 Deficiency Syndrome 2
Splenomegaly, Hemolytic anemia, Reticulocytosis, Reduced haptoglobin level OMIM:612126
Primary Myelofibrosis
Increased circulating lactate dehydrogenase concentration, Extramedullary hematopoiesis, Hepatosp... ORPHA:824
Anemia, Sideroblastic, 5
Reduced hematocrit, Hypochromic microcytic anemia, Thrombocytopenia, Anemia, Neutropenia OMIM:619523
Thrombotic Thrombocytopenic Purpura, Hereditary
Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Transient ische... OMIM:274150
Immunodeficiency, Common Variable, 1
Pneumonia, Decreased circulating IgG level, Abnormal T cell count, Recurrent pneumonia, Impaired ... OMIM:607594
Spherocytosis, Type 2
Hyperbilirubinemia, Acanthocytosis, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemol... OMIM:616649
Autoimmune Lymphoproliferative Syndrome
Increased circulating IgE level, Lymphopenia, Hypersplenism, Decreased proportion of CD4-positive... ORPHA:3261
Leukocyte Adhesion Deficiency, Type Iii
Epistaxis, Extramedullary hematopoiesis, Abnormal lymph node morphology, Hepatosplenomegaly, Leuk... OMIM:612840
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased specific anti-polysaccharide antibody level, Recurrent otitis media, Decreased CD4:CD8 ... OMIM:300853
Systemic Mastocytosis With Associated Hematologic Neoplasm
Chronic lymphatic leukemia, Acute myeloid leukemia, Neutrophilia, Hepatomegaly, Tachycardia, Myel... ORPHA:98849
Immunodeficiency 53
Recurrent pneumonia, Recurrent upper respiratory tract infections, Recurrent otitis media, Skin r... OMIM:617585
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Microcytic anemia, Hepatosplenomegaly, Pancytopenia, Colitis, Sterile abscess, Thrombocytosis, El... OMIM:604416
Shwachman-Diamond Syndrome
Aplastic anemia, Hypopituitarism, Pancytopenia, Increased serum bile acid concentration, Impaired... ORPHA:811
Caspase 8 Deficiency
Pneumonia, Decreased circulating IgG level, Eczematoid dermatitis, Decreased CD4:CD8 ratio, Decre... OMIM:607271
Immunodeficiency With Hyper-Igm, Type 1
Enteroviral encephalitis, Increased circulating IgA level, Cirrhosis, Neutropenia, Hepatomegaly, ... OMIM:308230
Lymphoproliferative Syndrome, X-Linked, 1
Aplastic anemia, Hemophagocytosis, Pancytopenia, Abnormal B cell count, Neutropenia, Recurrent ph... OMIM:308240
Beta-Thalassemia, Dominant Inclusion Body Type
Persistence of hemoglobin F, Microcytic anemia, Splenomegaly, Erythrocyte inclusion bodies, Hepat... OMIM:603902
Barth Syndrome
Dilated cardiomyopathy, Elevated monolysocardiolipin/cardiolipin ratio, Congestive heart failure,... OMIM:302060
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Decreased specific pneumococcal antibody level, Splenomegaly, Decreased circulating IgG2 level, D... OMIM:615513
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Pneumonia, Plasmacytosis, Lymphopenia, Autoimmune hemolytic anemia, Increased circulating antibod... OMIM:247800
Immunodeficiency 27A
Hypoalbuminemia, Pneumonia, Enlarged mesenteric lymph node, Hepatosplenomegaly, Leukocytosis, Spl... OMIM:209950
Immunodeficiency 32B
Hypoalbuminemia, Pneumonia, Impaired oxidative burst, Abnormal circulating IgG level, Splenomegal... OMIM:226990
Familial Hemophagocytic Lymphohistiocytosis
Hemophagocytosis, Erythroderma, Neutropenia, Reduced natural killer cell activity, Hepatomegaly, ... ORPHA:540
Immunodeficiency 108 With Autoinflammation
Recurrent aphthous stomatitis, Impaired neutrophil chemotaxis, Hyposegmentation of neutrophil nuc... OMIM:260570
Anemia, Hypochromic Microcytic, With Iron Overload 2
Increased circulating ferritin concentration, Hypogonadism, Sideroblastic anemia, Azoospermia, Sp... OMIM:615234
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Reduced natural killer cell count, Hypoplasia of the thymus, Impaired lymphocyte transformation w... OMIM:619313
Glutamate-Cysteine Ligase Deficiency
Aminoaciduria, Hepatosplenomegaly, Reticulocytosis, Jaundice, Hemolytic anemia ORPHA:33574
Alpha-Thalassemia-Myelodysplastic Syndrome
Acute leukemia, HbH hemoglobin, Microcytic anemia, Splenomegaly, Neutropenia, Thrombocytopenia ORPHA:231401
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies
Recurrent pneumonia, Microcytic anemia, Hepatosplenomegaly, Mitral regurgitation, Hypothyroidism,... OMIM:619750
Beta-Thalassemia Intermedia
Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomegaly, High-output conges... ORPHA:231222
Red Cell Phospholipid Defect With Hemolysis
Splenomegaly, Hyperbilirubinemia, Reticulocytosis, Intermittent jaundice OMIM:179700
Combined Immunodeficiency Due To Zap70 Deficiency
Pneumonia, Decreased lymphocyte proliferation in response to mitogen, Lymphadenitis, Chronic muco... ORPHA:911
Immunodeficiency 50
Lymphopenia, Neutropenia OMIM:300988
Cyanosis, Transient Neonatal
Reticulocytosis, Methemoglobinemia, Hepatomegaly, Anemia, Jaundice OMIM:613977
Immunodeficiency 84
Perianal abscess, Splenomegaly, B lymphocytopenia OMIM:619437
Immunodeficiency 76
Lymphopenia, T lymphocytopenia, Splenomegaly, B lymphocytopenia OMIM:619164
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Type I diabetes mellitus, Hepatitis, Eczematoid dermatitis, Increased circulating IgE level, Decr... OMIM:304790
Autoinflammation With Episodic Fever And Lymphadenopathy
Recurrent tonsillitis, Microcytic anemia, Splenomegaly, Lymphadenopathy, Hepatomegaly OMIM:618852
Dysplasia Of Head Of Femur, Meyer Type
Enlarged tonsils, Leukocytosis ORPHA:168621
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Hypochromic anemia, Abnormal circulating lactate dehydrogenase concentration, Cryptorchidism, Ane... ORPHA:67044
Alpha-Thalassemia
Cholelithiasis, Extramedullary hematopoiesis, Congestive heart failure, Microcytic anemia, Hemogl... ORPHA:846
Congenital Disorder Of Glycosylation, Type Iic
Pneumonia, Reduction of neutrophil motility, Bronchiolitis, Periodontitis, Recurrent otitis media... OMIM:266265
Immunodeficiency 54
Reduced natural killer cell count, Splenomegaly, Failure to thrive OMIM:609981
Harderoporphyria
Neonatal hyperbilirubinemia, Increased circulating ferritin concentration, Increased urinary porp... OMIM:618892
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Acute kidney injury, Increased circulating lactate dehydrogenase concentration, Anuria, Microangi... ORPHA:90038
Beta-Thalassemia
Cholelithiasis, Hepatitis, Microcytic anemia, Hypertrophic cardiomyopathy, Splenomegaly, Abnormal... ORPHA:848
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Abnormally low T cell receptor excision circle level, Reduction of neutrophil motility, Rectal ab... OMIM:608203
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Acute kidney injury, Anuria, Microangiopathic hemolytic anemia, Elevated circulating creatinine c... OMIM:235400
Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia Due To
Reduced erythrocyte gamma-glutamyl cysteine synthetase activity, Increased circulating lactate de... OMIM:230450
Iron-Refractory Iron Deficiency Anemia
Poikilocytosis, Elevated circulating hepcidin concentration, Hypochromic microcytic anemia, Aniso... OMIM:206200
Adult-Onset Still Disease
Neutrophilia, Hepatomegaly, Elevated circulating C-reactive protein concentration, Lymphadenopath... ORPHA:829
Thrombotic Thrombocytopenic Purpura
Acute kidney injury, Microangiopathic hemolytic anemia, Abnormal circulating lactate dehydrogenas... ORPHA:54057
X-Linked Agammaglobulinemia
Recurrent pneumonia, Abnormal lung morphology, Hepatitis, Conjunctivitis, Osteomyelitis, Hypocalc... ORPHA:47
Immunodeficiency 64 With Lymphoproliferation
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased circulating IgG level... OMIM:618534
Immunodeficiency 109 With Lymphoproliferation
Decreased circulating IgG level, Decreased specific pneumococcal antibody level, Decreased lympho... OMIM:620282
Anemia, Congenital Dyserythropoietic, Type Ii
Cholelithiasis, Splenomegaly, Anemia of inadequate production, Reticulocytosis, Jaundice, Reduced... OMIM:224100
Cernunnos-Xlf Deficiency
Lymphopenia, Thrombocytopenia, B lymphocytopenia, Anemia, T lymphocytopenia ORPHA:169079
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of memory ... OMIM:615559
Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa,and pallidal degeneration
Decreased LDL cholesterol concentration, Acanthocytosis OMIM:607236
Familial Mediterranean Fever
Renal amyloidosis, Erysipelas, Stage 5 chronic kidney disease, Leukocytosis, Splenomegaly, Amyloi... OMIM:249100
Omenn Syndrome
Pneumonia, Splenomegaly, Hypoplasia of the thymus, Eosinophilia, Anemia, Hepatomegaly, Lymphadeno... OMIM:603554
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia
Epistaxis, Acanthocytosis, Anemia of inadequate production, Congenital thrombocytopenia, Poikiloc... OMIM:300367
Hereditary Spherocytosis
Spontaneous hemolytic crises, Cholelithiasis, Restrictive cardiomyopathy, Increased mean corpuscu... ORPHA:822
Activated Pi3K-Delta Syndrome
Pneumonia, Recurrent tonsillitis, Recurrent otitis media, Splenomegaly, Chronic sinusitis, Recurr... ORPHA:397596
Atransferrinemia
Abnormality of the liver, Hypochromic anemia, Atransferrinemia, Congestive heart failure OMIM:209300
Immunodeficiency 115 With Autoinflammation
Hypoalbuminemia, Decreased circulating IgG level, Eczematoid dermatitis, Intestinal lymphangiecta... OMIM:620632
Autoinflammation With Infantile Enterocolitis
Reduced natural killer cell count, Failure to thrive, Pancytopenia, Splenomegaly, Thrombocytopeni... OMIM:616050
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4
Agammaglobulinemia, Abnormal B cell morphology, Decreased circulating antibody level OMIM:616911
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Fluctuating splenomegaly, Recurrent otitis media, Autoimmune hemolytic anemia, Recurrent lower re... OMIM:619220
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Unconjugated hyperbilirubinemia, Leukocytosis, Reticulocytosis, Splenomegaly, Anisocytosis, Heinz... OMIM:300908
Majeed Syndrome
Inflammatory abnormality of the skin, Microcytic anemia, Osteomyelitis, Hepatosplenomegaly, Eryth... OMIM:609628
Immunodeficiency 17
Abnormal B cell morphology, Failure to thrive, Decreased proportion of CD8-positive T cells, Auto... OMIM:615607
Anemia, Sideroblastic, 4
Sideroblastic anemia, Abnormal erythrocyte morphology OMIM:182170
Immunodeficiency By Defective Expression Of Mhc Class Ii
Abnormal CD4:CD8 ratio, Pancytopenia, Decreased proportion of CD4-positive helper T cells, Acute ... ORPHA:572
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Hematochezia, Congenital pulmonary airway malformation, Lymphopenia, Psoriasiform dermatitis, Leu... OMIM:243150
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Recurrent pneumonia, Inflammatory abnormality of the skin, Recurrent upper respiratory tract infe... ORPHA:277
Combined Oxidative Phosphorylation Deficiency 53
Septic arthritis, Osteomyelitis, Elevated circulating C-reactive protein concentration, Arthritis... OMIM:619423
Neutropenia, Severe Congenital, 2, Autosomal Dominant
B lymphocytopenia, Neutropenia, Monocytosis OMIM:613107
Anemia, Sideroblastic, And Spinocerebellar Ataxia
Howell-Jolly bodies, Organic aciduria, Sideroblastic anemia, Pappenheimer bodies, Erythroid hyper... OMIM:301310
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Recurrent pneumonia, Increased circulating lactate dehydrogenase concentration, Eczematoid dermat... OMIM:617780
Immunodeficiency 13
Lymphopenia, Decreased CD4:CD8 ratio, Decreased proportion of CD4-positive helper T cells, B lymp... OMIM:615518
Amyloidosis, Hereditary Systemic 2
Nephropathy, Renal amyloidosis, Cholestasis, Splenomegaly, Skin rash, Proteinuria, Hematuria, Gen... OMIM:105200
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Decreased circulating IgG level, Ventricular hypertrophy, Atelectasis, Hepatocellular necrosis, P... OMIM:618278
Agammaglobulinemia 3, Autosomal Recessive
Absent circulating B cells, Failure to thrive, Neutropenia, Abnormal T cell morphology OMIM:613501
Alpha-Thalassemia Myelodysplasia Syndrome
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia OMIM:300448
Anemia, Sideroblastic, 1
Sideroblastic anemia, Hypochromic microcytic anemia, Anemia of inadequate production, Macrocytic ... OMIM:300751
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Splenomegaly, Microcytic anemia, Abnormal hemoglobin ORPHA:231242
Dilated Cardiomyopathy With Ataxia
Elevated circulating hepatic transaminase concentration, Elevated circulating glutaric acid conce... ORPHA:66634
Agammaglobulinemia 8A, Autosomal Dominant
B lymphocytopenia OMIM:616941
Tularemia
Pneumonia, Brain abscess, Cutaneous abscess, Cervical lymphadenopathy, Abnormal nasopharyngeal ad... ORPHA:3392
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
Spherocytosis, Type 5
Abnormal leukocyte count, Splenomegaly, Reticulocytosis, Abnormal platelet count, Spherocytosis, ... OMIM:612690
Selective Igm Deficiency
Allergic rhinitis, Rheumatoid arthritis, Lymphadenitis, Decreased proportion of CD8-positive T ce... ORPHA:331235
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Hypoalbuminemia, Increased mean corpuscular volume, Second degree atrioventricular block, Extrame... OMIM:617021
Osteopetrosis, Autosomal Recessive 5
Hepatic failure, Extramedullary hematopoiesis, Ascites, Hepatosplenomegaly, Pancytopenia, Leukocy... OMIM:259720
Griscelli Syndrome
Bone marrow hypocellularity, Hepatitis, Abnormal circulating lipid concentration, Ascites, Leukop... ORPHA:381
Ras-Associated Autoimmune Leukoproliferative Disorder
Recurrent respiratory infections, Pancytopenia, Splenomegaly, Follicular hyperplasia, Increased c... OMIM:614470
Ataxia-Pancytopenia Syndrome
Acute myelomonocytic leukemia, Recurrent respiratory infections, Pancytopenia, Abnormal macrophag... ORPHA:2585
Diamond-Blackfan Anemia 13
Normocytic anemia, Elevated red cell adenosine deaminase activity OMIM:615909
Refractory Celiac Disease
Normocytic anemia, Hypoalbuminemia, Inflammatory abnormality of the skin, Elevated circulating he... ORPHA:398063
Niemann-Pick Disease, Type A
Sea-blue histiocytosis, Microcytic anemia, Ascites, Elevated circulating aspartate aminotransfera... OMIM:257200
Hypobetalipoproteinemia, Familial, 1
Decreased HDL cholesterol concentration, Hypocholesterolemia, Elevated circulating aspartate amin... OMIM:615558
Choreoacanthocytosis
Acanthocytosis, Elevated circulating creatine kinase concentration OMIM:200150
Isolated Sedoheptulokinase Deficiency
Cholestatic liver disease, Hepatitis, Cholestasis, Portal hypertension, Renal insufficiency, Hypo... ORPHA:440713
Glycogen Storage Disease Vii
Cholelithiasis, Increased circulating lactate dehydrogenase concentration, Increased total biliru... OMIM:232800
Aicardi-Goutieres Syndrome 2
Lymphocytosis OMIM:610181
Agammaglobulinemia 8B, Autosomal Recessive
Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine... OMIM:619824
Pyruvate Kinase Deficiency Of Red Cells
Cholelithiasis, Unconjugated hyperbilirubinemia, Reduced red cell pyruvate kinase level, Erythroi... OMIM:266200
Immunodeficiency 68
Abnormal natural killer cell count, T lymphocytopenia, Abscess, B lymphocytopenia OMIM:612260
Sickle Cell Anemia
Hypochromic anemia, Persistence of hemoglobin F, Microcytic anemia, Abnormality of the spleen, Un... ORPHA:232
Immunodeficiency 95
Decreased circulating IgG3 level, Recurrent viral pneumonia, Lymphopenia, Recurrent viral upper r... OMIM:619773
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Microcytic anemia, Hypo... OMIM:619013
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Inflammatory abnormality of the skin, Increased circulating IgE level, Psoriasiform dermatitis, C... ORPHA:37042
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Herpes simplex encephalitis, Increased circulating IgE level, Recurrent otitis media, Hepatosplen... OMIM:618982
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Cholelithiasis, Hyperbilirubinemia, Splenomegaly, Reticulocytosis, Cholecystit... OMIM:235700
Thrombocytopenia With Beta-Thalassemia, X-Linked
Epistaxis, Increased RBC distribution width, Reduced platelet alpha granules, Reticulocytosis, Sp... OMIM:314050
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Recurrent upper respiratory tract infections, Hemophagocytosis, Abnormal pulmonary interstitial m... OMIM:613101
Bile Acid Synthesis Defect, Congenital, 5
Hepatic fibrosis, Hepatic failure, Portal fibrosis, Elevated circulating hepatic transaminase con... OMIM:616278
Chylomicron Retention Disease
Elevated circulating hepatic transaminase concentration, Hypocholesterolemia, Acanthocytosis, Hep... ORPHA:71
Neutrophilia, Hereditary
Splenomegaly, Elevated leukocyte alkaline phosphatase, Neutrophilia OMIM:162830
Triokinase And Fmn Cyclase Deficiency Syndrome
Hypoalbuminemia, Dilated cardiomyopathy, Microcytic anemia, Hepatic steatosis, Pancreatitis, Elev... OMIM:618805
Mu-Heavy Chain Disease
Nephropathy, Bence Jones Proteinuria, Abnormal B cell count, Splenomegaly, Increased circulating ... ORPHA:100024
Sitosterolemia 1
Stomatocytosis, Giant platelets, Hyperapobetalipoproteinemia, Increased circulating lactate dehyd... OMIM:210250
Immunodeficiency, Common Variable, 2
Decreased circulating IgG level, Abnormal T cell count, Recurrent pneumonia, Impaired T cell func... OMIM:240500
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Reduced natural killer cell count, T lymphocytopenia, Failure to thrive OMIM:242860
Legionnaires Disease
Bone marrow hypocellularity, Hypotension, Abnormal lung morphology, Hepatitis, Lymphopenia, Abnor... ORPHA:549
Protoporphyria, Erythropoietic, 2
Iron deficiency anemia, Increased erythrocyte protoporphyrin concentration OMIM:618015
Developmental And Epileptic Encephalopathy 50
Oroticaciduria, Acanthocytosis, Hyperammonemia, Renal tubular acidosis, Schistocytosis, Anisopoik... OMIM:616457
Abetalipoproteinemia
Acanthocytosis, Abetalipoproteinemia OMIM:200100
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Hyperbilirubinemia, Acute myeloid leukemia, N... ORPHA:158057
Epidermodysplasia Verruciformis, Susceptibility To, 5
Lymphopenia, T lymphocytopenia OMIM:618309
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome
Atopic dermatitis, Thrombocytopenia, Hypochromic microcytic anemia, Increased circulating ferriti... ORPHA:3240
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Anemia, Leukocytosis, Elevated circulating C-reactive protein concentration, Ulcerative colitis OMIM:619398
Congenital Enterovirus Infection
Hypoalbuminemia, Fetal ascites, Hepatic failure, Hypotension, Hepatitis, Cardiomyopathy, Cholesta... ORPHA:292
Trimethylaminuria
Recurrent pneumonia, Splenomegaly, Trimethylaminuria, Neutropenia, Anemia, Tachycardia, Hypertension OMIM:602079
Acute Monoblastic/Monocytic Leukemia
Hypochromic anemia, Oliguria, Acute monocytic leukemia, Increased circulating lactate dehydrogena... ORPHA:514
Abetalipoproteinemia
Hypoalbuminemia, Hepatic fibrosis, Hypotriglyceridemia, Elevated circulating hepatic transaminase... ORPHA:14
Immunodeficiency 114, Folate-Responsive
Decreased circulating IgG level, Atopic dermatitis, Increased circulating ferritin concentration,... OMIM:620603
T-Cell Immunodeficiency With Thymic Aplasia
Pneumonia, Decreased lymphocyte proliferation in response to mitogen, Eczematoid dermatitis, Hypo... ORPHA:83471
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hypoalbuminemia, Pulmonary embolism, Intestinal lymphangiectasia, Ascites, Budd-Chiari syndrome, ... OMIM:226300
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Nephrocalcinosis, Hepatosplenomegaly, Distal renal tubular acidosis, Reticulocytosis, Hypokalemia... OMIM:611590
Immunodeficiency 9
Decreased circulating IgG level, Lymphopenia, Decreased circulating IgA level, Recurrent aphthous... OMIM:612782
Persistent Polyclonal B-Cell Lymphocytosis
Lymphocytosis, Splenomegaly OMIM:606445
Immunodeficiency 43
Reduced natural killer cell count, Lung abscess, B lymphocytopenia OMIM:241600
Autosomal Agammaglobulinemia
Bronchiectasis, Hepatitis, Osteomyelitis, Skin rash, Agammaglobulinemia, Sinusitis, Neutropenia, ... ORPHA:33110
Immunodeficiency 62
Decreased circulating IgG level, Decreased proportion of memory B cells, Recurrent upper respirat... OMIM:618459
Ichthyosis, Congenital, Autosomal Recessive 5
Acanthocytosis, Erythroderma OMIM:604777
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Inflammation of the large intestine, Psoriasiform dermatitis, Hepatomegaly, Recurrent lower respi... ORPHA:436159
Felty Syndrome
Bone marrow hypocellularity, Recurrent pneumonia, Recurrent respiratory infections, Abnormal lymp... ORPHA:47612
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness
Renal insufficiency, Hypothyroidism, Hyperalaninemia, Hypochromic microcytic anemia, Anemia, Incr... OMIM:619147
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Decreased proportion of CD4+CD25+ regulatory T cells, Lymphopenia, Decreased circulating antibody... OMIM:619846
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Splenomegaly, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, ... ORPHA:231154
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Absent natural killer cells, Failure to thrive, Lymphopenia, Impaired lymphocyte transformation w... OMIM:600802
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Hepatitis, Increased circula... OMIM:194380
Isolated Agammaglobulinemia
Pneumonia, Recurrent respiratory infections, Abnormal lymphocyte morphology, Otitis media, Skin r... ORPHA:229717
Ménétrier Disease
Hypoalbuminemia, Gastrointestinal hemorrhage, Hypochromic microcytic anemia, Hypoproteinemia, Gia... ORPHA:2494
Immunodeficiency 113 With Autoimmunity And Autoinflammation
Neutrophilia, Minimal change glomerulonephritis, Hematochezia, Intraalveolar phospholipid accumul... OMIM:620565
Osteopetrosis, Autosomal Recessive 4
Splenomegaly, Reticulocytosis, Hepatomegaly, Thrombocytopenia, Anemia OMIM:611490
Imerslund-Gräsbeck Syndrome
Anisopoikilocytosis, Hypersegmentation of neutrophil nuclei, Pancytopenia, Reticulocytosis, Macro... ORPHA:35858
Lymphoproliferative Syndrome 1
Decreased circulating IgG level, Hemophagocytosis, Increased circulating ferritin concentration, ... OMIM:613011
Immunodeficiency 96
Decreased circulating IgG level, Multicystic kidney dysplasia, Increased proportion of gamma-delt... OMIM:619774
3-Methylglutaconic Aciduria, Type V
3-Methylglutaric aciduria, Dilated cardiomyopathy, Congestive heart failure, Normochromic microcy... OMIM:610198
Refractory Anemia
Normocytic anemia, Bone marrow hypocellularity, Anemia of inadequate production, Macrocytic anemi... ORPHA:98826
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Lymphopenia, Hepatosplenomegaly, Cryptorchidism, Mitral regurgitation, Neutropenia, Hepatomegaly,... OMIM:612541
Neutrophil Immunodeficiency Syndrome
Abnormality of neutrophil physiology, Leukocytosis ORPHA:183707
Plummer-Vinson Syndrome
Cheilitis, Iron deficiency anemia, Decreased circulating ferritin concentration, Hypochromic micr... ORPHA:54028
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Poikilocytosis, Oval macrocytosis, Anemia of inadequate production, Anisocytosis OMIM:603529
Aceruloplasminemia
Decreased circulating iron concentration, Abnormal pancreas morphology, Increased circulating fer... ORPHA:48818
Maternal Uniparental Disomy Of Chromosome 4
Type I diabetes mellitus, Hypocholesterolemia, Abnormal erythrocyte morphology, Acanthocytosis, A... ORPHA:96180
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Increased circulating iron concentration, Elevated circulating hepatic transaminase concentration... ORPHA:300298
Schnitzler Syndrome
Vasculitis, Leukocytosis, Splenomegaly, Skin rash, Hepatomegaly, Lymphadenopathy, Arthritis, Anem... ORPHA:37748
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Decreased proportion of memory B cells, Hepatosplenomegaly, Pancytopenia, Pulmonary hemorrhage, A... ORPHA:79124
Congenital Bile Acid Synthesis Defect Type 2
Giant cell hepatitis, Hepatic failure, Elevated circulating hepatic transaminase concentration, I... ORPHA:79303
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hemophagocytosis, Conjunctivitis, Increased circulating ferritin concentration, Splenomegaly, Hyp... OMIM:603552
Overhydrated Hereditary Stomatocytosis
Abnormal mean corpuscular volume, Stomatocytosis, Increased circulating lactate dehydrogenase con... ORPHA:3203
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Acute pancreatitis, Recurrent pneumonia, Recurrent tonsillitis, Granuloma, Lymphadenitis, Eczemat... OMIM:618935
Familial Mediterranean Fever
Nephropathy, Acute hepatic failure, Arrhythmia, Nephrotic syndrome, Vasculitis, Erysipelas, Ascit... ORPHA:342
Woronets Trait
Red blood cell keratocytosis OMIM:194320
Overhydrated Hereditary Stomatocytosis
Stomatocytosis, Increased mean corpuscular volume, Pulmonary embolism, Hyperbilirubinemia, Spleno... OMIM:185000
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Recurrent otitis media, Decreased CD4:CD8 ratio, Splenomegaly, Autoimmune hemolytic anemia, Lymph... OMIM:618495
Alpha-Thalassemia
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:604131
Beta-Thalassemia
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Immunodeficiency, Common Variable, 3
Decreased proportion of class-switched memory B cells, Abnormal T cell count, Abnormal B cell count OMIM:613493
Ataxia-Telangiectasia
Lymphopenia, Decreased proportion of CD4-positive helper T cells, Abnormal B cell count, Recurren... OMIM:208900
Immunodeficiency 14B, Autosomal Recessive
Neutrophilia, Decreased circulating IgG level, Inflammation of the large intestine, Recurrent pne... OMIM:619281
Immunodeficiency 75 With Lymphoproliferation
Hepatosplenomegaly, Follicular hyperplasia, Decreased proportion of class-switched memory B cells... OMIM:619126
Osteopetrosis, Autosomal Recessive 2
Mandibular osteomyelitis, Extramedullary hematopoiesis, Osteomyelitis, Hepatosplenomegaly, Pancyt... OMIM:259710
Immunodeficiency 67
Abnormal T cell count, Transient neutropenia, Abnormal B cell count, Abnormal natural killer cell... OMIM:607676
Immunodeficiency, Common Variable, 8, With Autoimmunity
Inflammation of the large intestine, Recurrent otitis media, Pancytopenia, Erythema nodosum, Auto... OMIM:614700
Autosomal Erythropoietic Protoporphyria
Cholelithiasis, Eczematoid dermatitis, Decreased liver function, Microcytic anemia, Abnormal circ... ORPHA:79278
Rh Deficiency Syndrome
Stomatocytosis, Increased circulating lactate dehydrogenase concentration, Hepatosplenomegaly, Hy... ORPHA:71275
Aspergillosis
Pneumonia, Keratitis, Hepatitis, Increased circulating IgE level, Osteomyelitis, Pleural effusion... ORPHA:1163
Glucagonoma
Increased circulating cortisol level, Increased circulating prolactin concentration, Acanthocytos... ORPHA:97280
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Inflammatory abnormality of the skin, Increased circulating IgE level, Lymphopenia, Aplasia of th... OMIM:102700
Wiskott-Aldrich Syndrome
Nephropathy, Inflammation of the large intestine, Decreased proportion of CD8-positive T cells, L... OMIM:301000
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Decreased circulating IgG level, Lymphopenia, Leukopenia, Splenomegaly, Ventricular septal defect... OMIM:620210
Spherocytosis, Type 4
Hyperbilirubinemia, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia OMIM:612653
Congenital Dyserythropoietic Anemia Type Iii
Increased circulating iron concentration, Elevated circulating hepatic transaminase concentration... ORPHA:98870
Wolcott-Rallison Syndrome
Chronic kidney disease, Acute hepatic failure, Hyperbilirubinemia, Atrial septal defect, Neutrope... ORPHA:1667
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Lymphopenia, Reduced natural killer cell count, Cutaneous abscess, Neutropenia OMIM:619752
Spherocytosis, Type 1
Cholelithiasis, Hyperbilirubinemia, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemol... OMIM:182900
Niemann-Pick Disease, Type B
Sea-blue histiocytosis, Decreased HDL cholesterol concentration, Increased LDL cholesterol concen... OMIM:607616
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Bone marrow hypocellularity, Increased circulating lactate dehydrogenase concentration, Abnormal ... ORPHA:86841
Orotic Aciduria
Folate-unresponsive megaloblastic anemia, Impaired T cell function, Oroticaciduria, Anisocytosis,... OMIM:258900
Immunodeficiency 69
Hemophagocytosis, Increased circulating ferritin concentration, Hepatosplenomegaly, Pancytopenia,... OMIM:618963
Wilson Disease
Elevated circulating hepatic transaminase concentration, Hepatitis, Acute hepatic failure, Acute ... ORPHA:905
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Abnormal reticulocyte morphology, Bone marrow hypocellularity, Impaired platelet aggregation, Ell... OMIM:300835
Drug Reaction With Eosinophilia And Systemic Symptoms
Elevated circulating hepatic transaminase concentration, Hepatitis, Acute hepatic failure, Renal ... ORPHA:139402
Hereditary Elliptocytosis
Cholelithiasis, Stomatocytosis, Neonatal hyperbilirubinemia, Abnormal erythrocyte morphology, Con... ORPHA:288
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Increased circulating ferritin concentration, Sideroblastic anemia, Hypochromia, Anemia, Elevated... OMIM:205950
Phosphoglycerate Kinase 1 Deficiency
Exercise-induced myoglobinuria, Erythroid hyperplasia, Renal insufficiency, Reticulocytosis, Hemo... OMIM:300653
Neutropenia, Chronic Familial
Periodontitis, Neutropenia, Increased circulating antibody level OMIM:162700
Say-Barber-Miller Syndrome
Decreased circulating IgG level, Eczematoid dermatitis, Hypogonadism, Cryptorchidism, Transient h... ORPHA:3132
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Bone marrow hypocellularity, Increased mean corpuscular volume, Pancytopenia, Acute myeloid leuke... OMIM:619041
Delta-Beta-Thalassemia
Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231237
Immunodeficiency, Common Variable, 6
Decreased specific pneumococcal antibody level, Abnormal T cell count, Chronic decreased circulat... OMIM:613496
Sickle Cell Disease
Splenic infarction, Cholelithiasis, Increased red cell sickling tendency, Leukocytosis, Splenomeg... OMIM:603903
Fetal Cytomegalovirus Syndrome
Elevated circulating hepatic transaminase concentration, Hepatitis, Retinal hemorrhage, Splenomeg... ORPHA:294
Bone Marrow Failure Syndrome 6
Bone marrow hypocellularity, Increased mean corpuscular volume, Persistence of hemoglobin F, Lymp... OMIM:618849
Protoporphyria, Erythropoietic, X-Linked
Cholelithiasis, Iron deficiency anemia, Elevated circulating hepatic transaminase concentration, ... OMIM:300752
Immunodeficiency 82 With Systemic Inflammation
Decreased circulating total IgG, Anoperineal fistula, Pustular rash, Recurrent otitis media, Foll... OMIM:619381
Diamond-Blackfan Anemia 18
Erythroid hypoplasia, Neutropenia, Steroid-responsive anemia OMIM:618310
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Decreased circulating IgG level, Abnormal T cell count, Decreased lymphocyte proliferation in res... ORPHA:331206
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Inflammatory abnormality of the skin, Lymphopenia, Hepatosplenomegaly, Abnormal circulating inter... ORPHA:391487
Agammaglobulinemia 2, Autosomal Recessive
Recurrent pneumonia, Recurrent otitis media, Decreased circulating IgA level, Agammaglobulinemia,... OMIM:613500
Immunodeficiency, Common Variable, 11
Abnormal T cell count, Decreased proportion of class-switched memory B cells, Failure to thrive OMIM:615767
Neutropenia, Severe Congenital, X-Linked
Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia OMIM:300299
Immunodeficiency, Common Variable, 4
Decreased circulating IgG level, Abnormal T cell count, Recurrent pneumonia, Recurrent sinusitis,... OMIM:613494
Hemochromatosis, Type 3
Increased circulating iron concentration, Elevated circulating hepatic transaminase concentration... OMIM:604250
Cryohydrocytosis
Pseudohyperkalemia, Stomatocytosis, Splenomegaly, Reticulocytosis, Hemolytic anemia OMIM:185020
Dyskeratosis Congenita, Autosomal Recessive 8
Bone marrow hypocellularity, Reduced natural killer cell count, Pancytopenia, B lymphocytopenia OMIM:620133
Idiopathic Trachyonychia
Atopic dermatitis, Autoimmune thrombocytopenia, Amyloidosis ORPHA:79153
Combined Immunodeficiency Due To Dock8 Deficiency
Pneumonia, Atopic dermatitis, Recurrent respiratory infections, Increased circulating IgE level, ... ORPHA:217390
Immunodeficiency 92
Pneumonia, Decreased circulating IgG level, Partial absence of specific antibody response to teta... OMIM:619652
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Atrophic gastritis, Decreased circulating IgG level, Recurrent upper respiratory tract infections... OMIM:616100
Leishmaniasis
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Pancytopenia, Leukopeni... ORPHA:507
Syndromic Diarrhea
Lymphopenia, Ventricular septal defect, Bicuspid aortic valve, Hepatoblastoma, Cirrhosis, Atrial ... ORPHA:84064
Immunodeficiency 22
Decreased circulating IgG level, Recurrent upper respiratory tract infections, Ascites, Decreased... OMIM:615758
Aicardi-Goutieres Syndrome 6
Splenomegaly, Chilblains, Increased circulating Interferon-alpha concentration, Thrombocytopenia,... OMIM:615010
Pulmonary Hemosiderosis
Iron deficiency anemia, Recurrent intrapulmonary hemorrhage, Pulmonary fibrosis OMIM:178550
Common Variable Immunodeficiency
Pneumonia, Vasculitis, Bronchiectasis, Elevated circulating hepatic transaminase concentration, E... ORPHA:1572
Alpha-Heavy Chain Disease
Ascites, Splenomegaly, Hypocalcemia, Dysgammaglobulinemia, Hepatomegaly, Lymphadenopathy, Anemia ORPHA:100025
Autoimmune Disease, Multisystem, Infantile-Onset, 3
Decreased specific pneumococcal antibody level, Abnormal T cell count, Decreased circulating IgG ... OMIM:620430
Avian Influenza
Hypoalbuminemia, Pneumonia, Acute kidney injury, Elevated circulating hepatic transaminase concen... ORPHA:454836
Mhc Class Ii Deficiency 1
Cutaneous anergy, Recurrent upper respiratory tract infections, Chronic mucocutaneous candidiasis... OMIM:209920
T-Cell Immunodeficiency With Thymic Aplasia
Abnormally low T cell receptor excision circle level, Recurrent pneumonia, Eczematoid dermatitis,... OMIM:242700
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections
Decreased circulating IgG level, Atopic dermatitis, Recurrent upper respiratory tract infections,... OMIM:618944
Ebola Hemorrhagic Fever
Gastrointestinal hemorrhage, Hepatitis, Lymphopenia, Leukopenia, Increased circulating antibody l... ORPHA:319218
Marburg Hemorrhagic Fever
Neutrophilia in presence of infection, Lymphopenia, Increased circulating antibody level, Jaundic... ORPHA:99826
Agammaglobulinemia 6, Autosomal Recessive
Decreased circulating IgG level, Recurrent pneumonia, Recurrent otitis media, Decreased circulati... OMIM:612692
Immunodeficiency 11A
Monocytopenia, Decreased proportion of CD4+CD25+ regulatory T cells OMIM:615206
Agammaglobulinemia 10, Autosomal Dominant
Decreased circulating IgG level, Type I diabetes mellitus, Decreased circulating IgA level, Trans... OMIM:619707
Autoimmune Polyendocrinopathy Type 4
Atrophic gastritis, Non-caseating epithelioid cell granulomatosis, Aplasia/Hypoplasia of the sple... ORPHA:227990
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Decreased proportion of memory B cells, Atopic dermatitis, Decreased specific anti-polysaccharide... ORPHA:70593
Monosomy 22
Hepatosplenomegaly, Aplasia of the thymus, Seborrheic dermatitis, Hypochromic microcytic anemia, ... ORPHA:96123
Leukocyte Adhesion Deficiency
Lymphocytic interstitial pneumonia, Impaired neutrophil chemotaxis, Acute myeloid leukemia, Glome... ORPHA:2968
Immunodeficiency 42
Recurrent aphthous stomatitis, Splenomegaly, Hypoplasia of the thymus, Recurrent cutaneous fungal... OMIM:616622
Sweet Syndrome
Abnormal circulating interleukin concentration, Inflammation of the large intestine, Increased ci... ORPHA:3243
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Hypochromic anemia, Anoperineal fistula, Increased circulating IgE level, Leukocytosis, Pancoliti... OMIM:618213
Wiskott-Aldrich Syndrome
Nephropathy, Abnormal eosinophil morphology, Acute leukemia, Inflammation of the large intestine,... ORPHA:906
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Impaired lymphocyte transformation with phytohemagglutinin, Increased CD4:CD8 ratio OMIM:617006
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Pneumonia, Decreased circulating IgG level, Recurrent upper respiratory tract infections, Decreas... OMIM:614069
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Recurrent pneumonia, Abnormal CD4:CD8 ratio, Recurrent aphthous stomatitis, Splenomegaly, Abscess... OMIM:150550
Intrinsic Factor Deficiency
Megaloblastic erythroid hyperplasia, Increased mean corpuscular volume, Increased RBC distributio... OMIM:261000
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Decreased lymphocyte proliferation in response to anti-CD3, Increased circulating IgE level, Hepa... OMIM:606367
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Lymphopenia, Eosinophilia ORPHA:2582
Eisenmenger Syndrome
Abnormal circulating B-type natriuretic peptide concentration, Ventricular septal defect, Elevate... ORPHA:97214
Vascular Malformation, Primary Intraosseous
Hypochromic anemia, Elevated circulating alkaline phosphatase concentration OMIM:606893
Whim Syndrome 1
Decreased circulating IgG level, Recurrent upper respiratory tract infections, Abnormal morpholog... OMIM:193670
Immunodeficiency 86
Decreased circulating IgG level, Impaired oxidative burst, Increased circulating IgM level OMIM:619549
Klippel-Trénaunay Syndrome
Gastrointestinal hemorrhage, Pulmonary embolism, Congestive heart failure, Microcytic anemia, Asc... ORPHA:90308
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Decreased proportion of memory B cells, Reduced natural killer cell count, Inflammation of the la... OMIM:301074
Immunodeficiency 36 With Lymphoproliferation
Decreased circulating IgG level, Recurrent upper respiratory tract infections, Lymphopenia, Decre... OMIM:616005
Arthrogryposis Multiplex Congenita 5
Normocytic anemia, Medullary nephrocalcinosis, Acanthocytosis, Poikilocytosis, Cardiac arrest OMIM:618947
B-Cell Expansion With Nfkb And T-Cell Anergy
Decreased specific antibody response to polysaccharide vaccine, Decreased circulating IgA level, ... OMIM:616452
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction
Hepatic bridging fibrosis, Howell-Jolly bodies, Portal inflammation, Ventricular septal defect, I... OMIM:613759
Autoimmune Polyendocrinopathy Type 3
Rheumatoid arthritis, Autoimmune hypoparathyroidism, Iridocyclitis, Tubulointerstitial nephritis,... ORPHA:227982
Brucellosis
Arteritis, Sacroiliac arthritis, Hypersplenism, Knee osteoarthritis, Glomerulonephritis, Hepatome... ORPHA:1304
Congenital Syphilis
Pneumonia, Keratitis, Extramedullary hematopoiesis, Hepatosplenomegaly, Prolonged neonatal jaundi... ORPHA:499009
Eosinophilia, Familial
Leukocytosis, Recurrent bronchitis, Eosinophilia, Thrombocytopenia, Myocardial eosinophilic infil... OMIM:131400
Mitochondrial Dna Depletion Syndrome 18
Microcytic anemia, Elevated urinary quinolinic acid level, Lacticaciduria OMIM:618811
H Syndrome
Bronchiectasis, Microcytic anemia, Decreased testicular size, Hepatosplenomegaly, Azoospermia, Hy... ORPHA:168569
Immunodeficiency 98 With Autoinflammation, X-Linked
Bone marrow hypocellularity, Decreased circulating IgG level, Type I diabetes mellitus, Hemophago... OMIM:301078
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Anemia, Hepatomegaly, Splenomegaly, Persistence of hemoglobin F ORPHA:46532
Idiopathic Pulmonary Hemosiderosis
Reticular pattern on pulmonary HRCT, Diffuse alveolar hemorrhage, Hepatosplenomegaly, Nodular pat... ORPHA:99931
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Pneumonia, Abnormal T cell count, Panhypogammaglobulinemia, Decreased response to growth hormone ... OMIM:307200
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Hypochromic anemia, Increased circulating ferritin concentration, Microcytic anemia, Sideroblasti... OMIM:600462
Immunodeficiency 44
Lymphopenia, Decreased circulating IgA level, Abnormal circulating IgG level, Elevated circulatin... OMIM:616636
Aregenerative Anemia
Bone marrow hypocellularity, Abnormal circulating interleukin concentration, Pancytopenia, Decrea... ORPHA:101096
Blue Rubber Bleb Nevus
Microcytic anemia, Intestinal bleeding, Skin rash ORPHA:1059
Immunodeficiency, Common Variable, 13
Pancytopenia, Acute lymphoblastic leukemia, B lymphocytopenia OMIM:616873
Pgm3-Cdg
Bone marrow hypocellularity, Reduced natural killer cell count, Abnormal CD4:CD8 ratio, Cutaneous... ORPHA:443811
Immunodeficiency 70
Decreased circulating total IgG, Decreased proportion of CD4-positive helper T cells, Recurrent s... OMIM:618969
Proteasome-Associated Autoinflammatory Syndrome 2
Decreased proportion of memory B cells, Abnormal circulating IgM level, Neutrophilic infiltration... OMIM:618048
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
HbH hemoglobin, Cryptorchidism, Ventricular septal defect, Hydronephrosis, Perimembranous ventric... OMIM:301040
Polycythemia Vera
Gastrointestinal hemorrhage, Budd-Chiari syndrome, Increased hematocrit, Cerebral hemorrhage, Cer... OMIM:263300
Transcobalamin Deficiency
Decreased circulating IgG level, Acute kidney injury, Methylmalonic aciduria, Lymphopenia, Pancyt... ORPHA:859
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Type I diabetes mellitus, Hepatitis, Pancytopenia, Decreased circulating IgA level, Hypersplenism... OMIM:613385
Progressive Multifocal Leukoencephalopathy
Decreased proportion of CD8-positive T cells, Abnormal proportion of CD4-positive T cells ORPHA:217260
Somatostatinoma
Increased circulating cortisol level, Increased circulating prolactin concentration, Elevated cir... ORPHA:97283
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Hyperbilirubinemia, Renal insufficiency, Reticulocytosis, Myoglobinuria, Hemolytic anemia, Decrea... ORPHA:713
Hemochromatosis, Type 2B
Hepatic fibrosis, Increased circulating iron concentration, Elevated circulating hepatic transami... OMIM:613313
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome
Thrombocytopenia, Iron deficiency anemia, Neutropenia, Increased mean platelet volume ORPHA:494444
Immunodeficiency 46
Conjunctivitis, Recurrent sinopulmonary infections, Neutropenia, Anemia, Intermittent thrombocyto... OMIM:616740
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Splenomegaly, Abnormal hemoglobin, Thrombocytopenia, Anemia, Abnormal platelet function ORPHA:231393
Bacterial Toxic-Shock Syndrome
Abscess, Glomerulonephritis, Tachycardia, Recurrent skin infections, Shock, Elevated circulating ... ORPHA:36234
Immunodeficiency 91 And Hyperinflammation
Hemophagocytosis, Acute hepatic failure, Hepatosplenomegaly, Pulmonary hemorrhage, Neutrophilia, ... OMIM:619644
Autoimmune Hepatitis
Inflammation of the large intestine, Increased circulating antibody level, Cirrhosis, Glomerulone... ORPHA:2137
Breath-Holding Spells
Iron deficiency anemia OMIM:607578
Aicardi-Goutieres Syndrome 7
Pancytopenia, Hepatic steatosis, Chilblains, Increased circulating antibody level, Hepatomegaly, ... OMIM:615846
Agammaglobulinemia 4, Autosomal Recessive
Decreased circulating IgG level, Recurrent pneumonia, Recurrent otitis media, Decreased circulati... OMIM:613502
Retinitis Pigmentosa And Erythrocytic Microcytosis
Decreased circulating iron concentration, Leukopenia, Elliptocytosis, Anisocytosis, Hypochromia, ... OMIM:616959
Omenn Syndrome
Pneumonia, Abnormal lymphocyte morphology, Leukocytosis, Splenomegaly, Hepatomegaly, Eosinophilia... ORPHA:39041
Myelofibrosis
Hemophagocytosis, Extramedullary hematopoiesis, Splenomegaly, Hepatomegaly, Myeloproliferative di... OMIM:254450
Progressive Microcephaly-Seizures-Cortical Blindness-Developmental Delay Syndrome
Decreased proportion of CD4-positive T cells, Decreased body weight ORPHA:477814
Immunodeficiency 11B With Atopic Dermatitis
Pneumonia, Atopic dermatitis, Bronchiectasis, Increased circulating IgE level, Colonic eosinophil... OMIM:617638
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Reduced natural killer cell count, Cutaneous abscess, Failure to thrive, Decreased proportion of ... OMIM:243700
Pearson Syndrome
Pancytopenia, Hepatic steatosis, Hypophosphatemia, Neutropenia, Hypoparathyroidism, Hepatomegaly,... ORPHA:699
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Absent natural killer cells, Failure to thrive in infancy, Lymphopenia, Hepatosplenomegaly, Impai... ORPHA:35078
Primary Sjögren Syndrome
Arteritis, Lymphopenia, Chronic hepatitis, Decreased proportion of CD4-positive helper T cells, I... ORPHA:289390
Chromosome 5Q Deletion Syndrome
Erythroid hypoplasia, Refractory macrocytic anemia, Anemia of inadequate production OMIM:153550
Acatalasemia
Type I diabetes mellitus, Microcytic anemia, Type II diabetes mellitus, Reduced circulating catal... ORPHA:926
Immunodeficiency 60 And Autoimmunity
Decreased circulating IgG level, Decreased proportion of memory B cells, Bronchiectasis, Pancytop... OMIM:618394
Reticular Dysgenesis
Aplasia/Hypoplasia of the thymus, Recurrent respiratory infections, Leukopenia, Skin rash, Anemia... ORPHA:33355
Progeria-Short Stature-Pigmented Nevi Syndrome
Decreased serum estradiol, Elevated circulating hepatic transaminase concentration, Insulin-resis... ORPHA:2959
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To
Reduced erythrocyte adenosine triphosphate concentration, Stomatocytosis, Erythroid hyperplasia, ... OMIM:301083
Srd5A3-Cdg
Microcytic anemia, Hypothyroidism, Elevated circulating hepatic transaminase concentration, Decre... ORPHA:324737
Ataxia-Telangiectasia
Elevated circulating hepatic transaminase concentration, Aplasia/Hypoplasia of the thymus, Lympho... ORPHA:100
Congenital Disorder Of Glycosylation, Type Iq
Microcytic anemia, Elevated circulating hepatic transaminase concentration, Eczematoid dermatitis... OMIM:612379
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Elevated circulating hepatic transaminase concentration, Brain abscess, Abnormal lymph node morph... ORPHA:54251
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Decreased circulating IgG level, Right ventricular dilatation, Hypertrophic cardiomyopathy, Tricu... OMIM:619705
Systemic Lupus Erythematosus
Nephritis, Leukopenia, Malar rash, Pleuritis, Lupus nephritis, Thrombocytopenia, Arthritis, Hemol... OMIM:152700
Neurodegeneration, Early-Onset, With Choreoathetoid Movements And Microcytic Anemia
Microcytic anemia, Hypochromic anemia OMIM:618451
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy
Ketonuria, Microcytic anemia, 3-Methylglutaconic aciduria, Elevated circulating creatine kinase c... OMIM:251900
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Splenomegaly, Decreased proportion of class-switched memory B cells, Coombs-positive hemolytic an... OMIM:619375
3-Methylglutaconic Aciduria, Type Viia
Anemia, 3-Methylglutaconic aciduria, Neutropenia, Anisopoikilocytosis OMIM:619835
Short Fifth Metacarpals-Insulin Resistance Syndrome
Hyperinsulinemia, Spherocytosis, Splenomegaly ORPHA:66518
Proteasome-Associated Autoinflammatory Syndrome 3
Elevated circulating hepatic transaminase concentration, Conjunctivitis, Lymphopenia, Splenomegal... OMIM:617591
Hemophagocytic Lymphohistiocytosis, Familial, 3
Hemophagocytosis, Reduced natural killer cell activity, Hepatosplenomegaly, Hypertriglyceridemia,... OMIM:608898
Diamond-Blackfan Anemia 8
Neutropenia, Increased mean corpuscular volume, Macrocytic anemia OMIM:612563
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Type I diabetes mellitus, Recurrent upper respiratory tract infections, Eczematoid dermatitis, Ex... OMIM:615952
Hypocalcemic Vitamin D-Dependent Rickets
Generalized aminoaciduria, Hypochromic anemia, Elevated circulating parathyroid hormone level, Ca... ORPHA:289157
Thrombocytopenia, Anemia, And Myelofibrosis
Anemia, Splenomegaly, Thrombocytopenia, Anisopoikilocytosis OMIM:617441
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
Microcytic anemia, Hypospadias, HbH hemoglobin, Cryptorchidism ORPHA:98791
Peripartum Cardiomyopathy
Abnormal cardiac atrium morphology, Mitral regurgitation, Elevated jugular venous pressure, Left ... ORPHA:563
Babesiosis
Hepatic failure, Congestive heart failure, Leukopenia, Renal insufficiency, Splenomegaly, Thrombo... ORPHA:108
Graft Versus Host Disease
Pneumonia, Inflammatory abnormality of the skin, Elevated circulating hepatic transaminase concen... ORPHA:39812
Immunodeficiency 40
Focal active colitis, Recurrent pneumonia, Eosinophilic granuloma, Recurrent otitis media, Elevat... OMIM:616433
Mitochondrial Dna Depletion Syndrome 19
Microcytic anemia, Hydrocele testis, Hypospadias OMIM:618972
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Spontaneous hemolytic crises, Cholelithiasis, Pigment gallstones, Decreased glucosephosphate isom... OMIM:613470
Sting-Associated Vasculopathy, Infantile-Onset
Pustular rash, Lymphopenia, Leukopenia, Malar rash, Follicular hyperplasia, Skin rash, Pustule, M... OMIM:615934
Hemoglobin H Disease
HbH hemoglobin, Splenomegaly, Hepatomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia OMIM:613978
Immunodeficiency With Hyper-Igm, Type 4
Recurrent upper respiratory tract infections, Absence of lymph node germinal center, Osteomyeliti... OMIM:608184
Pantothenate Kinase-Associated Neurodegeneration
Acanthocytosis, Abetalipoproteinemia ORPHA:157850
Mixed Connective Tissue Disease
Nephropathy, Gastrointestinal hemorrhage, Leukopenia, Hemolytic anemia, Pleuritis, Splenomegaly, ... ORPHA:809
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Recurrent otitis media, Recurrent respiratory infections, Neutropenia OMIM:616022
Reticuloendotheliosis, X-Linked
Anemia, Jaundice, Hepatosplenomegaly, Lymphadenopathy OMIM:312500
Proteasome-Associated Autoinflammatory Syndrome 1
Increased circulating interleukin 8 concentration, Microcytic anemia, Recurrent otitis media, Inc... OMIM:256040
Lymphoproliferative Syndrome 2
Decreased lymphocyte proliferation in response to mitogen, Recurrent pneumonia, Aplastic anemia, ... OMIM:615122
Cinca Syndrome
Hepatosplenomegaly, Leukocytosis, Skin rash, Eosinophilia, Lymphadenopathy, Elevated circulating ... OMIM:607115
Vitamin B12-Unresponsive Methylmalonic Acidemia
Cardiomyopathy, Leukopenia, Renal insufficiency, Hyperammonemia, Macrocytic anemia, Hepatomegaly,... ORPHA:27
Aggressive Systemic Mastocytosis
Gastrointestinal hemorrhage, Hypotension, Elevated total serum tryptase, Decreased liver function... ORPHA:98850
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Cholestatic liver disease, Giant cell hepatitis, Nephropathy, Aminoaciduria, Nephrocalcinosis, El... OMIM:208085
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Abnormal B cell morphology, Recurrent otitis media, Cryptorchidism, Agammaglobulinemia, Decreased... OMIM:616910
Immunodeficiency 25
Recurrent pneumonia, Increased circulating IgE level, Complete or near-complete absence of specif... OMIM:610163
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Epistaxis, Stomatocytosis, Impaired ADP-induced platelet aggregation, Splenomegaly, Impaired coll... OMIM:153670
Jervell And Lange-Nielsen Syndrome
Torsade de pointes, Arrhythmia, Syncope, Iron deficiency anemia, Ventricular fibrillation, Prolon... ORPHA:90647
Immunodeficiency 55
Lymphopenia, Absent natural killer cells, Neutropenia OMIM:617827
Familial Pseudohyperkalemia
Stomatocytosis, Increased mean corpuscular volume, Reticulocytosis, Episodic hemolytic anemia, Hy... ORPHA:90044
Immunodeficiency With Hyper-Igm, Type 3
Decreased circulating IgG level, Impaired memory B cell generation, Absence of lymph node germina... OMIM:606843
Systemic Lupus Erythematosus 17
Hypertensive crisis, Myelitis, Lymphopenia, Leukopenia, Malar rash, Mitral regurgitation, Optic n... OMIM:301080
Congenital Disorder Of Glycosylation, Type Iir
Elevated circulating hepatic transaminase concentration, Micronodular cirrhosis, Decreased liver ... OMIM:301045
Porphyria Cutanea Tarda
Portal inflammation, Hepatic steatosis, Decreased circulating hepcidin concentration, Cutaneous a... ORPHA:101330
Refractory Anemia With Excess Blasts
Abnormal mean corpuscular volume, Bone marrow hypocellularity, Palpitations, Leukocytosis, Anemia... ORPHA:86839
Leukocyte Adhesion Deficiency Type Ii
Recurrent pneumonia, Keratitis, Microcytic anemia, Recurrent otitis media, Leukocytosis, Hepatome... ORPHA:99843
Idiopathic Hypereosinophilic Syndrome
Inflammatory abnormality of the skin, Hepatosplenomegaly, Chronic hepatitis, Erythroderma, Myocar... ORPHA:3260
Ziegler-Huang Syndrome
Bone marrow hypocellularity, Persistence of hemoglobin F, Hypogonadism, Cryptorchidism, Macrocyti... OMIM:620501
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hypocholesterolemia, Hypersplenism, Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia OMIM:610539
Epidermodysplasia Verruciformis, Susceptibility To, 4
Increased proportion of exhausted T cells OMIM:618307
Ataxia-Pancytopenia Syndrome
Acute myelomonocytic leukemia, Pancytopenia, Thrombocytopenia, Neutropenia, Anemia, Hypoplastic a... OMIM:159550
Familial Cold Autoinflammatory Syndrome 2
Recurrent aphthous stomatitis, Leukocytosis, Splenomegaly, Skin rash, Lymphadenopathy, Erythema n... OMIM:611762
8P11.2 Deletion Syndrome
Hypogonadism, Azoospermia, Splenomegaly, Cryptorchidism, Mitral valve prolapse, Hypogonadotropic ... ORPHA:251066
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Elevated gamma-glutamyltransferase level, Stomatocytosis, Splenomegaly, Conjugated hyperbilirubin... OMIM:608885
Alkaptonuria
Aminoaciduria, Aortic valve stenosis, Aortic valve calcification, Elevated urinary homogentisic a... ORPHA:56
Thrombocytopenia 5
Epistaxis, Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Neutropenia, Thromb... OMIM:616216
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Decreased circulating total IgM, Neutropenia, Recurrent bronchopulmonary infections OMIM:610798
Heme Oxygenase 1 Deficiency
Nephritis, Diffuse alveolar hemorrhage, Epistaxis, Increased circulating interleukin 6 concentrat... OMIM:614034
Congenital Erythropoietic Porphyria
Seborrhoeic blepharitis, Red-brown urine, Purple urine, Leukopenia, Erythroid hyperplasia, Abnorm... ORPHA:79277
Atelis Syndrome 1
Eczematoid dermatitis, Decreased lymphocyte proliferation in response to anti-CD3, Leukopenia, Gl... OMIM:620184
Immune Dysregulation, Autoimmunity, And Autoinflammation
Abnormal circulating C-reactive protein concentration, Epistaxis, Increased circulating interleuk... OMIM:620514
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Acute monocytic leukemia, Congenital agranulocytosis, Thrombocytosis, Increased circulating antib... OMIM:202700
Granulomatous disease with defect in neutrophil chemotaxis
Impaired neutrophil killing of staphylococci OMIM:233670
Immunodeficiency 10
Decreased circulating IgG level, Recurrent pneumonia, Recurrent otitis media, Decreased circulati... OMIM:612783
Drug-Induced Lupus Erythematosus
Pericardial effusion, Malar rash, Elevated circulating creatine kinase concentration, Hematuria, ... ORPHA:231111
Aapoaiv Amyloidosis
Chronic kidney disease, Sinus bradycardia, Glomerular sclerosis, Left bundle branch block, Abnorm... ORPHA:439232
Erythroleukemia, Familial, Susceptibility To
Erythroid hyperplasia, Splenomegaly, Hepatomegaly, Anemia, Acute myeloid leukemia, Thrombocytopen... OMIM:133180
Primary Intestinal Lymphangiectasia
Hypoalbuminemia, Decreased circulating IgG level, Peritoneal effusion, Intestinal lymphangiectasi... ORPHA:90362
Hb Bart'S Hydrops Fetalis
Congestive heart failure, Splenomegaly, Abnormal hemoglobin, Hepatomegaly, Anemia, Pericarditis ORPHA:163596
Hypereosinophilic Syndrome, Idiopathic
Restrictive cardiomyopathy, Endocardial fibrosis, Splenomegaly, Eosinophilia, Hepatomegaly, Myelo... OMIM:607685
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Jaundice, Elevated urinary delta-aminolevulinic acid, Splenomegaly, Nonspherocytic hemolytic anemia OMIM:206400
Agammaglobulinemia 9, Autosomal Recessive
Absent circulating B cells, Failure to thrive, Thrombocytopenia OMIM:619693
Gaucher Disease
Aortic valve calcification, Pancytopenia, Increased circulating antibody level, Hematuria, Cirrho... ORPHA:355
Immunodeficiency 37
Decreased proportion of central memory CD4-positive, alpha-beta T cells OMIM:616098
Simple Cryoglobulinemia
Chronic lymphatic leukemia, Nephrotic syndrome, Vasculitis, Gastrointestinal hemorrhage, Paraprot... ORPHA:91139
Dyskeratosis Congenita, Autosomal Dominant 1
Bone marrow hypocellularity, Increased mean corpuscular volume, Aplastic anemia, Budd-Chiari synd... OMIM:127550
Chediak-Higashi Syndrome
Periodontitis, Hemophagocytosis, Leukopenia, Giant neutrophil granules, Splenomegaly, Spontaneous... OMIM:214500
Deafness-Lymphedema-Leukemia Syndrome
Bone marrow hypocellularity, Acute leukemia, Recurrent respiratory infections, Leukocytosis, Sple... ORPHA:3226
Congenital Disorder Of Glycosylation, Type Ii
Hepatomegaly, Hypothyroidism, Iron deficiency anemia OMIM:607906
Celiac Disease, Susceptibility To, 1
Type I diabetes mellitus, Elevated circulating hepatic transaminase concentration, Eczematoid der... OMIM:212750
Tafro Syndrome
Increased circulating interleukin 6 concentration, Increased circulating lactate dehydrogenase co... ORPHA:457077
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Cardiomyopathy, Renal insufficiency, Splenomegaly, Hyperammonemia, Hepatomegaly, Pancreatitis, Th... ORPHA:79312
Erythrocytosis, Familial, 1
Increased hematocrit, Splenomegaly, Increased red blood cell mass, Increased circulating hemoglob... OMIM:133100
Neuroendocrine Tumor Of Stomach
Increased serum serotonin, Abnormal pulmonary valve cusp morphology, Hepatic failure, Elevated ci... ORPHA:100075
Acute Peripheral Arterial Occlusion
Abnormal capillary physiology, Supraventricular tachycardia, Leukocytosis, Abnormality of venous ... ORPHA:90064
Necrobiosis Lipoidica
Abnormality of neutrophil physiology, Inflammatory abnormality of the skin, Granuloma, Abnormalit... ORPHA:542592
Lymphangiectasia, Intestinal
Decreased circulating IgG level, Lymphopenia, Neonatal hypoproteinemia, Intestinal lymphangiectasia OMIM:152800
Microsporidiosis
Lymphadenitis, Urethritis, Abnormality of the spleen, Decreased proportion of CD4-positive helper... ORPHA:2552
Cholesteryl Ester Storage Disease
Hepatic bridging fibrosis, Elevated gamma-glutamyltransferase level, Acute hepatic failure, Adren... OMIM:278000
Lathosterolosis
Hepatic fibrosis, Intrahepatic cholestasis, Elevated circulating lathosterol concentration, Eleva... OMIM:607330
Whim Syndrome
Pneumonia, Recurrent pneumonia, Recurrent upper respiratory tract infections, Lymphadenitis, Atel... ORPHA:51636
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Genital ulcers, Lymphopenia, Skin rash, Thrombocytopenia, Colitis, Hemolytic anemia, Anterior uve... OMIM:616744
Catastrophic Antiphospholipid Syndrome
Pulmonary embolism, Arterial occlusion, Microangiopathic hemolytic anemia, Abnormal heart valve m... ORPHA:464343
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Recur... ORPHA:508533
Methylcobalamin Deficiency Type Cble
Increased mean corpuscular volume, Pancytopenia, Abnormality of the liver, Macrocytic anemia, Hyp... ORPHA:2169
Mevalonic Aciduria
Elevated circulating hepatic transaminase concentration, Increased circulating lactate dehydrogen... OMIM:610377
Neonatal Lupus Erythematosus
Aplastic anemia, Pancytopenia, Arrhythmia, Neutropenia, Hepatomegaly, Heart block, Abnormal heart... ORPHA:398124
Indolent Systemic Mastocytosis
Mastocytosis, Elevated total serum tryptase, Increased proportion of CD25+ mast cells, Splenomega... ORPHA:98848
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Increased mean corpuscular volume, Elevated red cell adenosine deaminase activity, Persistence of... OMIM:300946
Rift Valley Fever
Elevated circulating hepatic transaminase concentration, Hepatitis, Retinal hemorrhage, Skin rash... ORPHA:319251
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Increased mean corpuscular volume, Increased circulating lactate dehydrogenase concentration, Pan... OMIM:613839
Rh-Null, Amorph Type
Stomatocytosis, Hyperbilirubinemia, Reticulocytosis, Anisocytosis, Hemolytic anemia OMIM:617970
Sea-Blue Histiocyte Disease
Sea-blue histiocytosis, Elevated circulating aspartate aminotransferase concentration, Splenomega... OMIM:269600
Burkitt Lymphoma
Gastrointestinal hemorrhage, Increased circulating lactate dehydrogenase concentration, Abnormal ... ORPHA:543
Aa Amyloidosis
Chronic kidney disease, Nephropathy, Acute kidney injury, Renal amyloidosis, Hypotension, Cholest... ORPHA:85445
Loeffler Endocarditis
Aortic valve stenosis, Restrictive cardiomyopathy, Mitral regurgitation, Arrhythmia, Myocardial e... ORPHA:75566
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria)
Aminoaciduria,