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
Increased circulating IgE level, Bronchiectasis, Recurrent otitis media, Increased circulating Ig... 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 17
Autoimmune hemolytic anemia, Decreased proportion of CD8-positive T cells, Failure to thrive OMIM:615607
Immunodeficiency 15A
Decreased proportion of CD4-positive helper T cells, Cutaneous abscess, Decreased proportion of C... OMIM:618204
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
T lymphocytopenia ORPHA:169095
Immunodeficiency 40
Lymphopenia OMIM:616433
Immunodeficiency 18
Decreased proportion of CD3-positive T cells, Lymphopenia OMIM:615615
Combined Immunodeficiency, X-Linked
Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells OMIM:312863
Immunodeficiency 8
Lymphopenia OMIM:615401
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Bronchiectasis, Abnormally low T cell receptor excision circle level, Neutropenia, Generalized ly... OMIM:618986
Immunodeficiency 19
Lymphopenia, Failure to thrive OMIM:615617
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Increased circulating antibody level, Extramedullary hematopoiesis, Neutropenia, Thrombocytopenia... OMIM:615285
Wiskott-Aldrich Syndrome 2
Thrombocytopenia, Decreased proportion of CD8-positive T cells OMIM:614493
Cd8 Deficiency, Familial
Absence of CD8-positive T cells OMIM:608957
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
T lymphocytopenia OMIM:242870
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Skin rash, Decreased proportion of CD4-positive helper T cells, Recurrent bacterial skin infectio... ORPHA:276
Purine Nucleoside Phosphorylase Deficiency
Pure red cell aplasia, Increased circulating guanosine concentration, Autoimmune thrombocytopenia... OMIM:613179
Combined Cellular And Humoral Immune Defects With Granulomas
T lymphocytopenia, B lymphocytopenia OMIM:233650
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Respiratory tract infection, Hemolytic anemia, Autoimmune thrombocytopenia, Autoimmune hemolytic ... ORPHA:444463
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Hypoplasia of the thymus, Lymphopenia, Agammaglobulinemia OMIM:200900
Dehydrated Hereditary Stomatocytosis
Nonspherocytic hemolytic anemia, Increased hemoglobin concentration, Increased circulating ferrit... ORPHA:3202
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Hypochromic microcytic anemia, Decreased circulating antibody level, Aminoaciduria, Sideroblastic... OMIM:616084
Lymphoproliferative Syndrome 3
Reduced natural killer cell count, Hepatosplenomegaly OMIM:618261
Immunodeficiency 57 With Autoinflammation
T lymphocytopenia, Reduced natural killer cell count, Perianal abscess, B lymphocytopenia, Failur... OMIM:618108
Immunodeficiency 81
Decreased proportion of class-switched memory B cells, Skin rash, Autoimmune hemolytic anemia, Re... OMIM:619374
Immunodeficiency 24
Partial absence of specific antibody response to tetanus vaccine, Respiratory tract infection, De... OMIM:615897
Anemia, Hypochromic Microcytic, With Iron Overload 2
Increased circulating ferritin concentration, Hypochromia, Azoospermia, Hypogonadism, Hepatomegal... OMIM:615234
Severe Combined Immunodeficiency, X-Linked
T lymphocytopenia, Skin rash, Chronic oral candidiasis, Decreased circulating IgE, Impaired lymph... OMIM:300400
Autoimmune Lymphoproliferative Syndrome
Iron deficiency anemia, Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory ... OMIM:601859
Immunodeficiency 20
Reduced natural killer cell count OMIM:615707
Anemia, Congenital Dyserythropoietic, Type Iv
Reticulocytosis, Hyperbilirubinemia, Erythroid hyperplasia, Hepatomegaly, Anemia of inadequate pr... OMIM:613673
Dehydrated Hereditary Stomatocytosis 2
Hemolytic anemia, Increased mean corpuscular hemoglobin concentration, Reticulocytosis, Hyperbili... OMIM:616689
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Abnormally low T cell receptor excision circle level, B lymphocytopenia, Failure to thrive in inf... OMIM:618987
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
T lymphocytopenia DECIPHER:16
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly OMIM:183350
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
T lymphocytopenia, Decreased helper T cell proportion OMIM:601705
Acquired Idiopathic Sideroblastic Anemia
Hypochromic anemia, Thrombocytosis, Leukocytosis, Erythroid hyperplasia, Neutropenia, Hyposegment... ORPHA:75564
Hyperbilirubinemia, Shunt, Primary
Reticulocytosis, Hyperbilirubinemia, Erythroid hyperplasia, Hepatomegaly, Jaundice, Anemia of ina... OMIM:237800
Lymphoproliferative Syndrome, X-Linked, 2
Increased circulating ferritin concentration, Hemophagocytosis, Folliculitis, Acne, Inflammation ... OMIM:300635
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
T lymphocytopenia, Abnormally low T cell receptor excision circle level OMIM:618806
Q Fever
Hematuria, Pericarditis, Pericardial effusion, Cough, Abnormal left ventricular function, Pneumon... ORPHA:781
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Increased circulating ferritin concentration, Chronic hemolytic anemia, Reticulocytosis, Increase... ORPHA:766
Autoimmune Lymphoproliferative Syndrome, Type Iia
Increased circulating IgG level, Increased B cell count, Lymphadenopathy, Eosinophilia, Iron defi... OMIM:603909
Dominant Beta-Thalassemia
Decreased mean corpuscular hemoglobin concentration, Persistence of hemoglobin F, Reduced hemoglo... ORPHA:231226
Megaloblastic Anemia, Folate-Responsive
Increased circulating ferritin concentration, Hypersegmentation of neutrophil nuclei, Episodic he... OMIM:601775
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Decreased proportion of CD8-positive T cells, Decreased proportion of CD4-positive helper T cells... OMIM:617241
Beta-Thalassemia Major
Decreased mean corpuscular hemoglobin concentration, Persistence of hemoglobin F, Reduced hemoglo... ORPHA:231214
Majeed Syndrome
Hypochromic microcytic anemia, Pustule, Proteinuria, Leukocytosis, Congenital hypoplastic anemia,... ORPHA:77297
Anemia, Congenital Dyserythropoietic, Type Ib
Reticulocytosis, Erythroid hyperplasia, Hepatomegaly, Anisocytosis, Jaundice, Splenomegaly, Anemi... OMIM:615631
Reticular Dysgenesis
Congenital agranulocytosis, Lymphopenia, Lack of T cell function, Hypoplasia of the thymus, Impai... OMIM:267500
Mcleod Syndrome
Atrial fibrillation, Abnormal erythrocyte morphology, Elevated circulating creatine kinase concen... OMIM:300842
Sickle Cell Anemia
Iron deficiency anemia, Hypochromic anemia, Thrombocytosis, Hemolytic anemia, Chronic hemolytic a... ORPHA:232
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Lymphocytosis, T lymphocytopenia, Increased circulating IgE level, Decreased proportion of CD8-po... ORPHA:169154
Thrombotic Thrombocytopenic Purpura, Hereditary
Abnormal renal physiology, Microangiopathic hemolytic anemia, Increased blood urea nitrogen, Resp... OMIM:274150
Immunodeficiency 52
Coombs-positive hemolytic anemia, Recurrent pneumonia, Autoimmune thrombocytopenia, Bronchiectasi... OMIM:617514
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive
T lymphocytopenia, Pneumonia, Hepatomegaly, Splenomegaly, Eczema, Otitis media, Lymphadenopathy OMIM:608971
Fetal Cytomegalovirus Syndrome
Hepatomegaly, Anemia, Splenomegaly ORPHA:294
Omenn Syndrome
Severe B lymphocytopenia, Hypoproteinemia, Erythroderma, Pneumonia, Lymphadenopathy, Thrombocytop... OMIM:603554
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Absent tonsils, Aplasia of the thymus, Recurrent upper respiratory tract infections, Lymph node h... OMIM:602450
Anemia, Congenital Dyserythropoietic, Type Ia
Macrocytic dyserythropoietic anemia, Reticulocytosis, Erythroid hyperplasia, Reduced level of N-a... OMIM:224120
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Chronic oral candidiasis, Increased circulating antibody level, Decreased proportion of CD3-posit... ORPHA:169160
Leukocyte Adhesion Deficiency, Type Iii
Leukocytosis, Extramedullary hematopoiesis, Epistaxis, Hepatomegaly, Recurrent skin infections, A... OMIM:612840
Immunodeficiency 27A
Thrombocytosis, Increased circulating IgM level, Pulmonary infiltrates, Increased inflammatory re... OMIM:209950
Systemic Mastocytosis With Associated Hematologic Neoplasm
Chronic myelomonocytic leukemia, Amyloidosis, Abnormal mast cell morphology, Neutrophilia, Lympha... ORPHA:98849
Immunodeficiency, Common Variable, 1
Decreased proportion of class-switched memory B cells, Recurrent pneumonia, Recurrent bronchitis,... OMIM:607594
Spherocytosis, Type 2
Hemolytic anemia, Reticulocytosis, Hyperbilirubinemia, Jaundice, Splenomegaly, Acanthocytosis, Sp... OMIM:616649
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Thrombocytosis, Microcytic anemia, Colitis, Pancytopenia, Cystic acne, Arthritis, Elevated circul... OMIM:604416
Cernunnos-Xlf Deficiency
T lymphocytopenia, Lymphopenia, Thrombocytopenia, B lymphocytopenia, Anemia ORPHA:169079
Autoimmune Lymphoproliferative Syndrome
Lymphocytosis, Abnormal proportion of CD4-positive T cells, Abnormal serum interleukin level, Dec... ORPHA:3261
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Autoimmune hemolytic anemia, Increased circulating antibody level, Lymphopenia, Plasmacytosis, Pn... OMIM:247800
Shwachman-Diamond Syndrome
Skin rash, Neutropenia, Pneumonia, Pancytopenia, Pancreatic hypoplasia, Anemia, Leukopenia, Sinus... ORPHA:811
Immunodeficiency With Hyper-Igm, Type 1
Decreased circulating IgE, Sclerosing cholangitis, Neutropenia, Decreased T cell activation, Chro... OMIM:308230
Alpha-Thalassemia-Myelodysplastic Syndrome
Dyspnea, Microcytic anemia, Neutropenia, Thrombocytopenia, HbH hemoglobin, Splenomegaly, Acute le... ORPHA:231401
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Recurrent bronchitis, Decreased CD69 upregulation upon TCR activation, Autoimmune thrombocytopeni... OMIM:300853
Primary Myelofibrosis
Thrombocytosis, Leukocytosis, Extramedullary hematopoiesis, Increased circulating lactate dehydro... ORPHA:824
Glutamate-Cysteine Ligase Deficiency
Hemolytic anemia, Reticulocytosis, Aminoaciduria, Jaundice, Hepatosplenomegaly ORPHA:33574
Caspase 8 Deficiency
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:607271
Beta-Thalassemia Intermedia
Persistence of hemoglobin F, Jaundice, Decreased liver function, High-output congestive heart fai... ORPHA:231222
Immunodeficiency 48
Eczematoid dermatitis, Panhypogammaglobulinemia, Pneumonia, Hepatomegaly, Splenomegaly OMIM:269840
Solute carrier family 4 (anion exchanger), member 1
Hemolytic anemia, Elliptocytosis, Stomatocytosis, Reticulocytosis, Hyperbilirubinemia, Jaundice, ... OMIM:109270
Thrombotic Thrombocytopenic Purpura
Microangiopathic hemolytic anemia, Arrhythmia, Dyspnea, Hematuria, Acute kidney injury, Reticuloc... ORPHA:54057
Beta-Thalassemia
Abnormality of iron homeostasis, Microcytic anemia, Cholelithiasis, Respiratory insufficiency, Th... ORPHA:848
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Autoimmune hemolytic anemia, Increased circulating antibody level, Recurrent otitis media, Hepato... OMIM:618495
Red Cell Phospholipid Defect With Hemolysis
Reticulocytosis, Intermittent jaundice, Hyperbilirubinemia, Splenomegaly OMIM:179700
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of memory ... OMIM:615559
Combined Immunodeficiency Due To Zap70 Deficiency
Lymphocytosis, Skin rash, Decreased proportion of CD8-positive T cells, Autoimmune thrombocytopen... ORPHA:911
Cyanosis, Transient Neonatal
Reticulocytosis, Hepatomegaly, Jaundice, Anemia, Methemoglobinemia OMIM:613977
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Erythroid hypoplasia, Monocytosis, Cryptorchidism, Atrial septal defect, Lymphopenia, Neutropenia... OMIM:612541
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Cryptorchidism, Hypochromic anemia, Macrothrombocytopenia, Anisocytosis, Anemia of inadequate pro... ORPHA:67044
Immunodeficiency 76
T lymphocytopenia, Lymphopenia, B lymphocytopenia, Splenomegaly OMIM:619164
Tularemia
Abnormal nasopharyngeal adenoid morphology, Skin rash, Cutaneous abscess, Cough, Pneumonia, Anemi... ORPHA:3392
Autoinflammation With Episodic Fever And Lymphadenopathy
Recurrent tonsillitis, Microcytic anemia, Hepatomegaly, Splenomegaly, Lymphadenopathy OMIM:618852
Immunodeficiency 14A, Autosomal Dominant
Decreased proportion of class-switched memory B cells, T lymphocytopenia, Increased circulating I... OMIM:615513
Adult-Onset Still Disease
Skin rash, Restrictive ventilatory defect, Pleuritis, Pericarditis, Elevated hepatic transaminase... ORPHA:829
Immunodeficiency 54
Reduced natural killer cell count, Failure to thrive, Splenomegaly OMIM:609981
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Failure to thrive secondary to recurrent infections, T lymphocytopenia, B lymphocytopenia, Failur... OMIM:601457
Agammaglobulinemia 8, Autosomal Dominant
B lymphocytopenia OMIM:616941
Immunodeficiency 64
Abnormal CD4:CD8 ratio, Increased circulating IgM level, Increased proportion autoreactive unresp... OMIM:618534
Familial Hemophagocytic Lymphohistiocytosis
Increased circulating ferritin concentration, Skin rash, Neutropenia, Maculopapular exanthema, Ab... ORPHA:540
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells OMIM:611926
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Microangiopathic hemolytic anemia, Increased blood urea nitrogen, Acute kidney injury, Reticulocy... OMIM:235400
Iron-Refractory Iron Deficiency Anemia
Hypochromic microcytic anemia, Elevated hepcidin level, Anisocytosis, Poikilocytosis OMIM:206200
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Absent tonsils, T lymphocytopenia, Increased circulating IgE level, Recurrent upper respiratory t... ORPHA:277
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Peritonitis, Acute colitis, Microangiopathic hemolytic anemia, Acute kidney injury, Reticulocytos... ORPHA:90038
Majeed Syndrome
Skin rash, Microcytic anemia, Erythroid hyperplasia, Delayed puberty, Anemia of inadequate produc... OMIM:609628
Immunodeficiency 50
Lymphopenia, Neutropenia OMIM:300988
Hereditary Spherocytosis
Increased mean corpuscular hemoglobin concentration, Reticulocytosis, Restrictive cardiomyopathy,... ORPHA:822
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Leukocytosis, Impaired oxidative burst, Abnormally low T cell receptor excision circle level, Imp... OMIM:608203
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia
Congenital thrombocytopenia, Epistaxis, Anemia of inadequate production, Acanthocytosis, Poikiloc... OMIM:300367
Lymphoid System Deterioration, Progressive
Abnormal T cell morphology, Lymphopenia OMIM:247630
Anemia, Congenital Dyserythropoietic, Type Ii
Reticulocytosis, Cholelithiasis, Reduced level of N-acetylglucosaminyltransferase II, Jaundice, A... OMIM:224100
Harderoporphyria
Increased circulating ferritin concentration, Hemolytic anemia, Reticulocytosis, Hepatomegaly, Pr... OMIM:618892
X-Linked Agammaglobulinemia
Hypocalcemia, Skin rash, Recurrent pneumonia, Abnormal lung morphology, Chronic otitis media, Neu... ORPHA:47
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, B lymphocytopenia, Neutropenia OMIM:613107
Hypoprebetalipoproteinemia, Acanthocytosis, Retinitis Pigmentosa, And Pallidal Degeneration
Decreased LDL cholesterol concentration, Acanthocytosis OMIM:607236
Atransferrinemia
Hypochromic anemia, Congestive heart failure, Atransferrinemia, Abnormality of the liver OMIM:209300
Developmental And Epileptic Encephalopathy 50
Anisopoikilocytosis, Renal tubular acidosis, Anemia, Acanthocytosis, Hyperammonemia, Schistocytosis OMIM:616457
Autoinflammation With Infantile Enterocolitis
Pancytopenia, Reduced natural killer cell count, Thrombocytopenia, Anemia, Splenomegaly, Failure ... OMIM:616050
Apolipoprotein A-I Deficiency
Splenomegaly, Anemia, Decreased HDL cholesterol concentration, Abnormality of the liver, Lymphade... ORPHA:425
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Increased circulating ferritin concentration, Hemophagocytosis, Abnormal natural killer cell phys... OMIM:613101
Anemia, Sideroblastic, 4
Sideroblastic anemia, Abnormal erythrocyte morphology OMIM:182170
Ras-Associated Autoimmune Leukoproliferative Disorder
Lymphocytosis, Monocytosis, Hemolytic anemia, Autoimmune thrombocytopenia, Increased circulating ... OMIM:614470
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
T lymphocytopenia, Impaired lymphocyte transformation with phytohemagglutinin, Hypoplasia of the ... OMIM:619313
Sitosterolemia 1
Impaired platelet aggregation, Hypercholesterolemia, Episodic hemolytic anemia, Chronic hemolytic... OMIM:210250
Familial Mediterranean Fever
Peritonitis, Pleuritis, Pericarditis, Renal amyloidosis, Leukocytosis, Pleural effusion, Orchitis... OMIM:249100
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Coombs-positive hemolytic anemia, Increased circulating IgE level, Autoimmune thrombocytopenia, H... OMIM:304790
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations
Lymphopenia, Neutropenia OMIM:614868
Immunodeficiency By Defective Expression Of Mhc Class Ii
Skin rash, Decreased proportion of CD4-positive helper T cells, Sclerosing cholangitis, Panhypoga... ORPHA:572
Immunodeficiency 13
T lymphocytopenia, Lymphopenia, Decreased proportion of CD4-positive helper T cells, Decreased CD... OMIM:615518
Alpha-Thalassemia Myelodysplasia Syndrome
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:300448
Lathosterolosis
Horseshoe kidney, Ambiguous genitalia, male, Short nose, Elevated hepatic transaminase, Intrahepa... OMIM:607330
Lymphoproliferative Syndrome, X-Linked, 1
Lymphocytosis, Hemophagocytosis, Increased circulating IgM level, Vasculitis, Decreased circulati... OMIM:308240
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231242
Hypobetalipoproteinemia, Familial, 1
Decreased LDL cholesterol concentration, Acanthocytosis OMIM:615558
Alpha-Thalassemia
Hemolytic anemia, Microcytic anemia, Cholelithiasis, Jaundice, Hypersplenism, Splenomegaly, Anemi... ORPHA:846
Dilated Cardiomyopathy With Ataxia
Hypochromic microcytic anemia, Microvesicular hepatic steatosis, Elevated hepatic transaminase, E... ORPHA:66634
Selective Igm Deficiency
Cutaneous abscess, Bronchiectasis, Decreased specific antibody response to vaccination, Chronic s... ORPHA:331235
Congenital Disorder Of Glycosylation, Type Iic
Bulbous nose, Bronchiolitis, Recurrent otitis media, Periodontitis, Pneumonia, Reduction of neutr... OMIM:266265
Mu-Heavy Chain Disease
Increased circulating antibody level, Nephropathy, Hepatomegaly, Abnormal B cell count, Bence Jon... ORPHA:100024
Immunodeficiency 68
Abscess, T lymphocytopenia, B lymphocytopenia, Abnormal natural killer cell count OMIM:612260
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy
Microcytic anemia, Hypothyroidism, Neutropenia, Hepatomegaly, Elevated circulating creatine kinas... OMIM:251900
Griscelli Syndrome
Abnormality of neutrophils, Decreased circulating antibody level, Abnormal circulating lipid conc... ORPHA:381
Legionnaires Disease
Hematuria, Pericarditis, Cough, Respiratory insufficiency, Jaundice, Myocarditis, Renal insuffici... ORPHA:549
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Fava bean-induced hemolytic anemia, Reticulocytosis, Leukocytosis, Hemoglobinuria, Prolonged neon... OMIM:300908
Rajab Interstitial Lung Disease With Brain Calcifications 2
Restrictive ventilatory defect, Elevated hepatic transaminase, Microcytic anemia, Hypothyroidism,... OMIM:619013
Amyloidosis, Familial Visceral
Skin rash, Hematuria, Generalized amyloid deposition, Cholestasis, Hepatomegaly, Hypertension, Ne... OMIM:105200
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Recurrent pneumonia, Thrombocytosis, Megaloblastic anemia, Decreased circulating antibody level, ... OMIM:617780
Ataxia-Pancytopenia Syndrome
Abnormal platelet function, Abnormality of neutrophils, Abnormal macrophage morphology, Acute mye... ORPHA:2585
Refractory Celiac Disease
Iron deficiency anemia, Hypocalcemia, Hypoproteinemia, Hypophosphatemia, Inflammatory abnormality... ORPHA:398063
Agammaglobulinemia 1, Autosomal Recessive
Bronchiectasis, Decreased circulating antibody level, Recurrent otitis media, Recurrent sinusitis... OMIM:601495
Isolated Sedoheptulokinase Deficiency
Hypochromic microcytic anemia, Renal insufficiency, Cholestasis, Neonatal asphyxia, Hepatitis, Ch... ORPHA:440713
Osteopetrosis, Autosomal Recessive 5
Hypocalcemia, Extramedullary hematopoiesis, Hyperbilirubinemia, Pancytopenia, Thrombocytopenia, H... OMIM:259720
Osteopetrosis, Autosomal Recessive 4
Reticulocytosis, Thrombocytopenia, Hepatomegaly, Anemia, Splenomegaly, Hepatosplenomegaly OMIM:611490
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Increased circulating IgM level, Autoimmune thrombocytopenia, Bronchiectasis, Autoimmune hemolyti... OMIM:619220
Immunodeficiency 72 With Autoinflammation
Increased circulating IgE level, Bronchiectasis, Recurrent otitis media, Increased circulating Ig... OMIM:618982
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
T lymphocytopenia, Reduced natural killer cell count, Failure to thrive OMIM:242860
Chylomicron Retention Disease
Elevated hepatic transaminase, Hepatic steatosis, Increased hepatocellular lipid droplets, Hypoch... ORPHA:71
Aspergillosis
Pleuritis, Bronchiectasis, Intracranial hemorrhage, Cough, Neutropenia, Pneumonia, Abnormal trach... ORPHA:1163
Triokinase And Fmn Cyclase Deficiency Syndrome
Microcytic anemia, Hepatic steatosis, Elevated circulating alanine aminotransferase concentration... OMIM:618805
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Hypocalcemia, Decreased prealbumin level, Interstitial pneumonitis, Eczematoid dermatitis, Thyroi... ORPHA:37042
Acute Monoblastic/Monocytic Leukemia
Lymphocytosis, Hypochromic anemia, Acute monocytic leukemia, Exertional dyspnea, Leukocytosis, Ce... ORPHA:514
Thymoma
Skin rash, Hemolytic anemia, Pericarditis, Dyspnea, Decreased circulating antibody level, Abnorma... ORPHA:99867
Congenital Enterovirus Infection
Skin rash, Respiratory distress, Leukocytosis, Abnormal macrophage morphology, Pericardial effusi... ORPHA:292
Choreoacanthocytosis
Elevated circulating creatine kinase concentration, Acanthocytosis OMIM:200150
Trimethylaminuria
Neutropenia, Hypertension, Splenomegaly, Tachycardia, Anemia, Recurrent pneumonia, Trimethylaminuria OMIM:602079
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Increased circulating ferritin concentration, Hypochromic microcytic anemia, Atopic dermatitis, T... ORPHA:3240
Anemia, Sideroblastic, And Spinocerebellar Ataxia
Sideroblastic anemia, Hypochromic microcytic anemia OMIM:301310
Epidermodysplasia Verruciformis, Susceptibility To, 5
T lymphocytopenia, Lymphopenia OMIM:618309
Aicardi-Goutieres Syndrome 2
Lymphocytosis OMIM:610181
Neutrophilia, Hereditary
Neutrophilia, Hepatosplenomegaly, Elevated leukocyte alkaline phosphatase OMIM:162830
Refractory Anemia
Erythroid hypoplasia, Dyspnea, Abnormal cardiac ventricular function, Neutropenia, Normocytic ane... ORPHA:98826
Diamond-Blackfan Anemia 13
Elevated red cell adenosine deaminase level, Normocytic anemia OMIM:615909
Abetalipoproteinemia
Abetalipoproteinemia, Acanthocytosis OMIM:200100
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Nephrocalcinosis, Hemolytic anemia, Reticulocytosis, Distal renal tubular acidosis, Isothenuria, ... OMIM:611590
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness
Hypochromic microcytic anemia, Renal insufficiency, Mild proteinuria, Increased serum pyruvate, H... OMIM:619147
Hemophagocytic Lymphohistiocytosis, Familial, 4
Increased circulating ferritin concentration, Hemophagocytosis, Skin rash, Neutropenia, Thrombocy... OMIM:603552
Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive
Hypochromia, Pyridoxine-responsive sideroblastic anemia, Sideroblastic anemia, Decreased mean cor... OMIM:206000
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Leukocytosis, Ulcerative colitis, Elevated circulating C-reactive protein concentration, Anemia OMIM:619398
Bile Acid Synthesis Defect, Congenital, 5
Iron deficiency anemia, Increased total iron binding capacity, Elevated hepatic transaminase, Hyp... OMIM:616278
Anemia, Sideroblastic, 1
Sideroblastic anemia, Hypochromic microcytic anemia, Macrocytic anemia, Anemia of inadequate prod... OMIM:300751
Hereditary Elliptocytosis
Hemolytic anemia, Elliptocytosis, Stomatocytosis, Reticulocytosis, Hyperbilirubinemia, Abnormal e... ORPHA:288
Glycogen Storage Disease Vii
Increased total bilirubin, Hemolytic anemia, Reticulocytosis, Reduced erythrocyte 2,3-diphosphogl... OMIM:232800
Felty Syndrome
Recurrent pneumonia, Pleuritis, Pericarditis, Pulmonary fibrosis, Abnormal lymphocyte morphology,... ORPHA:47612
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
T lymphocytopenia, Absent natural killer cells, Lymphopenia, Impaired lymphocyte transformation w... OMIM:600802
Schnitzler Syndrome
Skin rash, Increased circulating IgM level, Leukocytosis, Hepatomegaly, Anemia, Splenomegaly, Vas... ORPHA:37748
X-Linked Lymphoproliferative Disease
Increased circulating ferritin concentration, Lymphocytosis, Pancytopenia, Histiocytosis, Decreas... ORPHA:2442
Autosomal Agammaglobulinemia
Skin rash, Bronchiectasis, Cough, Chronic otitis media, Neutropenia, Recurrent respiratory infect... ORPHA:33110
Abetalipoproteinemia
Cirrhosis, Elevated hepatic transaminase, Hypotriglyceridemia, Reticulocytosis, Hypothyroidism, H... ORPHA:14
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Increased circulating ferritin concentration, Increased mean corpuscular hemoglobin concentration... OMIM:194380
Ataxia-Telangiectasia
Defective B cell differentiation, T lymphocytopenia, Recurrent bronchitis, Conjunctival telangiec... OMIM:208900
Thrombocytopenia With Beta-Thalassemia, X-Linked
Hemolytic anemia, Reticulocytosis, Epistaxis, Thrombocytopenia, Splenomegaly OMIM:314050
Isolated Agammaglobulinemia
Skin rash, Abnormality of neutrophils, Abnormal lymphocyte morphology, Pneumonia, Recurrent respi... ORPHA:229717
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Severe B lymphocytopenia, Aplasia of the thymus, Increased circulating IgE level, Autoimmune thro... OMIM:102700
Niemann-Pick Disease, Type A
Bone-marrow foam cells, Elevated circulating aspartate aminotransferase concentration, Microcytic... OMIM:257200
Aceruloplasminemia
Increased circulating ferritin concentration, Hypochromic microcytic anemia, Decreased circulatin... ORPHA:48818
Combined Immunodeficiency Due To Dock8 Deficiency
T lymphocytopenia, Atopic dermatitis, Increased circulating IgE level, Recurrent bacterial skin i... ORPHA:217390
Wiskott-Aldrich Syndrome, Autosomal Dominant
Decreased specific anti-polysaccharide antibody level, Pneumonia, Abnormal delayed hypersensitivi... OMIM:600903
Immunodeficiency 22
Decreased proportion of CD4-positive helper T cells, Failure to thrive OMIM:615758
Ménétrier Disease
Hypochromic microcytic anemia, Hypoproteinemia, Gastrointestinal hemorrhage, Giant hypertrophic g... ORPHA:2494
Osteopetrosis, Autosomal Recessive 2
Chronic rhinitis due to narrow nasal airway, Extramedullary hematopoiesis, Pancytopenia, Thromboc... OMIM:259710
Neutrophil Immunodeficiency Syndrome
Leukocytosis, Abnormality of neutrophil physiology ORPHA:183707
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Increased circulating ferritin concentration, Azoospermia, Elevated hepatic transaminase, Decreas... ORPHA:300298
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Oval macrocytosis, Anisocytosis, Poikilocytosis, Anemia of inadequate production OMIM:603529
Immunodeficiency, Common Variable, 8, With Autoimmunity
Bronchiectasis, Decreased specific antibody response to vaccination, Thyroiditis, Generalized lym... OMIM:614700
Combined Immunodeficiency Due To Partial Rag1 Deficiency
T lymphocytopenia, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibod... ORPHA:231154
Lymphoproliferative Syndrome 1
Increased circulating ferritin concentration, Autoimmune thrombocytopenia, Autoimmune hemolytic a... OMIM:613011
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Nonspherocytic hemolytic anemia, Reticulocytosis, Cholecystitis, Hyperbilirubinemia, Cholelithias... OMIM:235700
Immunodeficiency 59 And Hypoglycemia
Hypochromic anemia, Arteritis, Leukocytosis, Decreased circulating antibody level, Stomatitis, Wi... OMIM:233600
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Decreased mean corpuscular hemoglobin concentration, Stomatocytosis, Reticulocy... ORPHA:3203
Maternal Uniparental Disomy Of Chromosome 4
Neurogenic bladder, Abetalipoproteinemia, Abnormal erythrocyte morphology, Hypocholesterolemia, D... ORPHA:96180
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Impaired platelet aggregation, Elliptocytosis, Increased hemoglobin, Abnormal erythrocyte morphol... OMIM:300835
Common Variable Immunodeficiency
Recurrent bronchitis, Restrictive ventilatory defect, Hemolytic anemia, Elevated hepatic transami... ORPHA:1572
Specific Granule Deficiency 1
Absent neutrophil specific granules, Increased neutrophil mitochondria, Increased neutrophil ribo... OMIM:245480
Pulmonary Hemosiderosis
Iron deficiency anemia, Pulmonary fibrosis, Respiratory insufficiency, Transient pulmonary infilt... OMIM:178550
Plummer-Vinson Syndrome
Iron deficiency anemia, Hypochromic microcytic anemia, Decreased circulating ferritin concentrati... ORPHA:54028
Glut1 Deficiency Syndrome 2
Reticulocytosis OMIM:612126
Woronets Trait
Red blood cell keratocytosis OMIM:194320
Autosomal Erythropoietic Protoporphyria
Cirrhosis, Microcytic anemia, Cholelithiasis, Decreased liver function, Abnormal circulating porp... ORPHA:79278
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Abnormal serum interleukin level, Decreased proportion of memory B cells, Cough, Panhypogammaglob... ORPHA:79124
Alpha-Thalassemia
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio OMIM:604131
Beta-Thalassemia
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Avian Influenza
Acute kidney injury, Cough, Pneumonia, Elevated circulating C-reactive protein concentration, Hyp... ORPHA:454836
3-Methylglutaconic Aciduria, Type V
Cryptorchidism, Noncompaction cardiomyopathy, Microvesicular hepatic steatosis, Glutaric aciduria... OMIM:610198
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Increased circulating ferritin concentration, Hypochromic anemia, Pappenheimer bodies, Microcytic... OMIM:600462
Spherocytosis, Type 4
Hemolytic anemia, Reticulocytosis, Hyperbilirubinemia, Jaundice, Splenomegaly, Spherocytosis OMIM:612653
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Recurrent pneumonia, Recurrent tonsillitis, Hemolytic anemia, Pulmonary fibrosis, Lymphadenitis, ... OMIM:618935
Glucagonoma
Skin rash, Elevated circulating growth hormone concentration, Increased circulating cortisol leve... ORPHA:97280
Immunodeficiency 69
Increased circulating ferritin concentration, Skin rash, Thrombocytosis, Leukocytosis, Pancytopen... OMIM:618963
Alpha-Thalassemia/Mental Retardation Syndrome, Chromosome 16-Related
Hypochromic microcytic anemia, Cryptorchidism, Anteverted nares, Wide nasal bridge, HbH hemoglobi... OMIM:141750
Persistent Polyclonal B-Cell Lymphocytosis
Lymphocytosis, Splenomegaly OMIM:606445
Immunodeficiency 14B, Autosomal Recessive
Inflammation of the large intestine, Monocytosis, Thrombocytosis, Leukocytosis, Decreased circula... OMIM:619281
Spherocytosis, Type 1
Hemolytic anemia, Reticulocytosis, Hyperbilirubinemia, Cholelithiasis, Jaundice, Splenomegaly, Sp... OMIM:182900
Drug Rash With Eosinophilia And Systemic Symptoms
Lymphocytosis, Skin rash, Pustule, Dyspnea, Elevated hepatic transaminase, Interstitial pneumonit... ORPHA:139402
Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked
Hypochromic microcytic anemia, Cryptorchidism, Short nose, Anteverted nares, Ventricular septal d... OMIM:301040
Immunodeficiency 21
Myeloid leukemia, Monocytopenia, Abnormal natural killer cell morphology, Lymphopenia, Neutropeni... OMIM:614172
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... ORPHA:70593
Wilson Disease
Acute hepatitis, Cirrhosis, Elevated hepatic transaminase, Hepatic steatosis, Acute hepatic failu... ORPHA:905
Say-Barber-Miller Syndrome
Cryptorchidism, Decreased circulating antibody level, Panniculitis, Impaired neutrophil chemotaxi... ORPHA:3132
Immunodeficiency 75
Decreased proportion of class-switched memory B cells, Bronchiectasis, Follicular hyperplasia, He... OMIM:619126
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Stomatocytosis, Reticulocytosis, Hyperbilirubinemia, Hepatomegaly, Jaundice, Sp... OMIM:185000
Wiskott-Aldrich Syndrome
Decreased specific anti-polysaccharide antibody level, Decreased proportion of CD4-positive helpe... OMIM:301000
Leukocyte Adhesion Deficiency
Peritonitis, Hyperinsulinemic hypoglycemia, Bronchiectasis, Pneumonia, Lymphocytic interstitial p... ORPHA:2968
Leishmaniasis
Elevated hepatic transaminase, Abnormal macrophage morphology, Increased circulating antibody lev... ORPHA:507
Agammaglobulinemia 3, Autosomal Recessive
Recurrent bronchitis, Recurrent otitis media, Neutropenia, Agammaglobulinemia, Recurrent respirat... OMIM:613501
Ichthyosis, Congenital, Autosomal Recessive 5
Erythroderma, Acanthocytosis OMIM:604777
Protoporphyria, Erythropoietic, X-Linked
Iron deficiency anemia, Elevated hepatic transaminase, Cholelithiasis, Increased erythrocyte prot... OMIM:300752
Halothane Hepatitis
Viral hepatitis, Jaundice, Hepatitis, Eosinophilia OMIM:234350
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Erythroid hypoplasia, Thrombocytosis, Increased circulating lactate dehydrogenase concentration, ... ORPHA:86841
Alpha-Heavy Chain Disease
Hypocalcemia, Hepatomegaly, Dysgammaglobulinemia, Ascites, Anemia, Splenomegaly, Premature ovaria... ORPHA:100025
Neutropenia, Chronic Familial
Increased circulating antibody level, Periodontitis, Neutropenia OMIM:162700
Spherocytosis, Type 5
Hemolytic anemia, Reticulocytosis, Jaundice, Splenomegaly, Spherocytosis OMIM:612690
Pyruvate Kinase Deficiency Of Red Cells
Chronic hemolytic anemia, Reticulocytosis, Cholecystitis, Cholelithiasis, Jaundice, Splenomegaly,... OMIM:266200
Delta-Beta-Thalassemia
Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231237
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Skin rash, Elevated hepatic transaminase, Recurrent upper and lower respiratory tract infections,... ORPHA:331206
Hemochromatosis, Type 3
Increased circulating ferritin concentration, Cirrhosis, Elevated hepatic transaminase, Lymphopen... OMIM:604250
Protoporphyria, Erythropoietic, 2
Iron deficiency anemia OMIM:618015
Autoimmune Lymphoproliferative Syndrome, Type V
Autoimmune thrombocytopenia, Bronchiectasis, Autoimmune hemolytic anemia, Decreased circulating a... OMIM:616100
Diamond-Blackfan Anemia 18
Erythroid hypoplasia, Neutropenia, Steroid-responsive anemia OMIM:618310
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Hepatomegaly, Anemia, Persistence of hemoglobin F, Splenomegaly ORPHA:46532
Congenital Dyserythropoietic Anemia Type Iii
Increased total iron binding capacity, Elevated hepatic transaminase, Hyperbilirubinemia, Abnorma... ORPHA:98870
Wolcott-Rallison Syndrome
Lymphocytosis, Central hypothyroidism, Neutropenia, Jaundice, Double outlet right ventricle, Neon... ORPHA:1667
Syndromic Diarrhea
Panhypogammaglobulinemia, Peripheral pulmonary artery stenosis, Cirrhosis, Hypoplasia of the thym... ORPHA:84064
Arthrogryposis Multiplex Congenita 5
Restrictive ventilatory defect, Wide nasal bridge, Normocytic anemia, Neonatal respiratory distre... OMIM:618947
Orotic Aciduria
Hypochromia, Atrial septal defect, Hematuria, Ventricular septal defect, Folate-unresponsive mega... OMIM:258900
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Neutropenia, Thrombocytopenia, Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpu... OMIM:619041
Immunodeficiency, Common Variable, 13
Pancytopenia, Acute lymphoblastic leukemia, B lymphocytopenia OMIM:616873
Primary Intestinal Lymphangiectasia
Iron deficiency anemia, Hypocalcemia, Hypoproteinemia, Decreased circulating antibody level, Lymp... ORPHA:90362
Congenital Disorder Of Glycosylation, Type Iq
Elevated hepatic transaminase, Microcytic anemia, Polymicrogyria, Eczema, Depressed nasal bridge OMIM:612379
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Bronchiectasis, Thyroiditis, Delayed puberty, Pulmonary arterial hypertension, Patent foramen ova... ORPHA:391487
Immunodeficiency 47
Cirrhosis, Elevated hepatic transaminase, Decreased circulating antibody level, Hepatic steatosis... OMIM:300972
Vascular Malformation, Primary Intraosseous
Elevated circulating alkaline phosphatase concentration, Hypochromic anemia OMIM:606893
Mitochondrial Dna Depletion Syndrome 18
Lacticaciduria, Reduced forced vital capacity, Microcytic anemia OMIM:618811
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Hepatomegaly, Splenomegaly ORPHA:2274
Klippel-Trénaunay Syndrome
Atrial septal defect, Hematuria, Gastrointestinal hemorrhage, Abnormal tricuspid valve morphology... ORPHA:90308
Eisenmenger Syndrome
Ventricular arrhythmia, Wheezing, Exertional dyspnea, Hyperuricemia, Tricuspid regurgitation, Ele... ORPHA:97214
Hemochromatosis, Type 2B
Increased circulating ferritin concentration, Cirrhosis, Abnormality of iron homeostasis, Elevate... OMIM:613313
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Lymphopenia, Eosinophilia ORPHA:2582
Bone Marrow Failure Syndrome 6
Persistence of hemoglobin F, Hypothyroidism, Lymphopenia, Recurrent sinusitis, Neutropenia, Anemi... OMIM:618849
Autoimmune Polyendocrinopathy Type 4
Iridocyclitis, Autoimmune thrombocytopenia, Anterior pituitary dysgenesis, Hypergonadotropic hypo... ORPHA:227990
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Iron deficiency anemia, Hypoproteinemia, Thrombocytosis, Decreased circulating antibody level, Bu... OMIM:226300
Monosomy 22
Hypochromic microcytic anemia, Seborrheic dermatitis, Aplasia of the thymus, Hepatosplenomegaly, ... ORPHA:96123
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Decreased specific anti-polysaccharide antibody level, Pulmonary interstitial lymphocyte infiltra... OMIM:606367
Eosinophilia, Familial
Recurrent bronchitis, Leukocytosis, Thrombocytopenia, Anemia, Pulmonary infiltrates, Eosinophilia... OMIM:131400
Aregenerative Anemia
Erythroid hypoplasia, Dyspnea, Abnormality of interleukin secretion, Decreased proportion of CD4-... ORPHA:101096
Agammaglobulinemia, X-Linked
Prostatitis, Epididymitis, Cor pulmonale, Lymph node hypoplasia, Pyoderma, Pneumonia, Septic arth... OMIM:300755
Somatostatinoma
Elevated circulating growth hormone concentration, Increased circulating cortisol level, Adrenoco... ORPHA:97283
Oculocerebral Hypopigmentation Syndrome Of Preus
Hypochromic anemia OMIM:257790
T-Cell Immunodeficiency With Thymic Aplasia
Aplasia of the thymus, Bronchiectasis, Eczematoid dermatitis, Lymphopenia, Emphysema, Pyoderma, R... OMIM:242700
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Increased CD4:CD8 ratio, Impaired lymphocyte transformation with phytohemagglutinin OMIM:617006
Phosphoglycerate Kinase 1 Deficiency
Reticulocytosis, Renal insufficiency, Hemolytic anemia, Exercise-induced myoglobinuria OMIM:300653
Bare Lymphocyte Syndrome, Type Ii
Cutaneous anergy, Recurrent upper respiratory tract infections, Viral hepatitis, Panhypogammaglob... OMIM:209920
H Syndrome
Recurrent pharyngitis, Azoospermia, Bronchiectasis, Microcytic anemia, Enlarged kidney, Abnormal ... ORPHA:168569
Autoimmune Polyendocrinopathy Type 3
Leukopenia, Autoimmune hypoparathyroidism, Non-caseating epithelioid cell granulomatosis, Autoimm... ORPHA:227982
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Thrombocytopenia, Splenomegaly, Anemia, Abnormal platelet function, Abnormal hemoglobin ORPHA:231393
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, Recurrent pneumonia, Intermittent thrombocytopenia, Bronchiectasis, Chron... OMIM:150550
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Chronic hemolytic anemia, Elliptocytosis, Hepatocellular necrosis, Reticulocytosis, Respiratory i... OMIM:618278
Specific Granule Deficiency 2
Absent neutrophil specific granules, Recurrent otitis media, Neutropenia, Thrombocytopenia, Anemi... OMIM:617475
Bacterial Toxic-Shock Syndrome
Peritonitis, Hypocalcemia, Skin rash, Elevated circulating creatinine concentration, Pneumonia, H... ORPHA:36234
Sweet Syndrome
Inflammation of the large intestine, Pustule, Dilated cardiomyopathy, Abnormal serum interleukin ... ORPHA:3243
Agammaglobulinemia 7, Autosomal Recessive
Recurrent respiratory infections, Agammaglobulinemia, Neutropenia OMIM:615214
Pgm3-Cdg
T lymphocytopenia, Abnormal CD4:CD8 ratio, Cutaneous abscess, Hemolytic anemia, Decreased proport... ORPHA:443811
Babesiosis
Renal insufficiency, Hemolytic anemia, Cough, Respiratory insufficiency, Thrombocytopenia, Jaundi... ORPHA:108
Progeria-Short Stature-Pigmented Nevi Syndrome
T lymphocytopenia, Central sleep apnea, Elevated hepatic transaminase, Supraventricular arrhythmi... ORPHA:2959
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Decreased proportion of class-switched memory B cells, Coombs-positive hemolytic anemia, Autoimmu... OMIM:619375
Immunodeficiency 60
Decreased proportion of memory B cells, Bronchiectasis, Decreased circulating IgE, Pulmonary infi... OMIM:618394
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive
Decreased proportion of class-switched memory B cells, Cutaneous abscess, Increased circulating I... OMIM:618944
Whim Syndrome 1
Abnormal morphology of female internal genitalia, Bronchiectasis, Recurrent upper respiratory tra... OMIM:193670
Polycythemia Vera
Thrombocytosis, Increased hematocrit, Gastrointestinal hemorrhage, Leukocytosis, Budd-Chiari synd... OMIM:263300
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
T lymphocytopenia, Absent natural killer cells, Lymphopenia, Impaired lymphocyte transformation w... ORPHA:35078
Wiskott-Aldrich Syndrome
Chronic leukemia, Intracranial hemorrhage, Neutropenia, Anemia, Sinusitis, Eczema, Otitis media, ... ORPHA:906
Niemann-Pick Disease, Type B
Bone-marrow foam cells, Dyspnea, Diffuse reticular or finely nodular infiltrations, Sea-blue hist... OMIM:607616
Progressive Multifocal Leukoencephalopathy
Abnormal proportion of CD4-positive T cells, Decreased proportion of CD8-positive T cells ORPHA:217260
Cryohydrocytosis
Reticulocytosis, Hemolytic anemia, Stomatocytosis, Splenomegaly OMIM:185020
Autoimmune Hemolytic Anemia, Cold Type
Dyspnea, Abnormal leukocyte morphology, Hemolytic anemia, Splenomegaly ORPHA:228312
Omenn Syndrome
Leukocytosis, Thyroiditis, Abnormal lymphocyte morphology, Hypothyroidism, Erythroderma, Pneumoni... ORPHA:39041
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Hemolytic anemia, Reticulocytosis, Hyperbilirubinemia, Decreased hemoglobin concentration, Myoglo... ORPHA:713
Brucellosis
Pericarditis, Pneumonia, Increased circulating IgG level, Elevated circulating C-reactive protein... ORPHA:1304
Acatalasemia
Severe periodontitis, Microcytic anemia, Type I diabetes mellitus, Type II diabetes mellitus, Red... ORPHA:926
Chromosome 5Q Deletion Syndrome
Erythroid hypoplasia, Anemia of inadequate production, Refractory macrocytic anemia OMIM:153550
Peripartum Cardiomyopathy
Exertional dyspnea, Abnormal T-wave, Anemia, Myocarditis, Pulmonary arterial hypertension, Abnorm... ORPHA:563
Breath-Holding Spells
Iron deficiency anemia OMIM:607578
Hemophagocytic Lymphohistiocytosis, Familial, 3
Hemophagocytosis, Hypertriglyceridemia, Granulocytopenia, Anemia, Hepatosplenomegaly, Reduced nat... OMIM:608898
Primary Sjögren Syndrome
Thyroiditis, Decreased proportion of CD4-positive helper T cells, Optic neuritis, Chronic hepatit... ORPHA:289390
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Nonspherocytic hemolytic anemia, Jaundice, Elevated urinary delta-aminolevulinic acid, Splenomegaly OMIM:206400
Gastrointestinal Defects And Immunodeficiency Syndrome
Interface hepatitis, Ventricular septal defect, Autoimmune hemolytic anemia, Abnormal abdomen mor... OMIM:243150
Neurodegeneration, Early-Onset, With Choreoathetoid Movements And Microcytic Anemia
Hypochromic anemia, Microcytic anemia OMIM:618451
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Abnormal lung morphology, Elevated hepatic transaminase, Abnormal testis morphology, Liver absces... ORPHA:54251
Pearson Syndrome
Hypocalcemia, Cardiac conduction abnormality, Proteinuria, Reticulocytosis, Neutropenia, Pancreat... ORPHA:699
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Hypothyroidism, Pectus excavatum, Hashimoto thyroiditis, Choanal atresia, Pancytopenia, Hepatomeg... OMIM:613385
Blue Rubber Bleb Nevus
Skin rash, Intestinal bleeding, Microcytic anemia ORPHA:1059
Autoimmune Hepatitis
Increased total bilirubin, Thyroiditis, Sclerosing cholangitis, Jaundice, Increased circulating I... ORPHA:2137
Hemoglobin H Disease
Hemolytic anemia, Hepatomegaly, HbH hemoglobin, Splenomegaly, Reduced alpha/beta synthesis ratio OMIM:613978
Ataxia-Telangiectasia
Elevated hepatic transaminase, Abnormal testis morphology, Decreased circulating antibody level, ... ORPHA:100
B-Cell Expansion With Nfkb And T-Cell Anergy
Decreased specific antibody response to polysaccharide vaccine, Splenomegaly, Decreased circulati... OMIM:616452
Lymphoproliferative Syndrome 2
Hemophagocytosis, Recurrent pneumonia, Decreased circulating antibody level, Uveitis, Pancytopeni... OMIM:615122
Diamond-Blackfan Anemia 8
Short nose, Neutropenia, Wide nasal bridge, Increased mean corpuscular volume, Macrocytic anemia OMIM:612563
Transcobalamin Deficiency
Acute kidney injury, Decreased circulating antibody level, Lymphopenia, Neutropenia, Thrombocytop... ORPHA:859
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
Cryptorchidism, Microcytic anemia, Wide nasal bridge, HbH hemoglobin, Hypospadias ORPHA:98791
Systemic Lupus Erythematosus
Hemolytic anemia, Pericarditis, Pleuritis, Thrombocytopenia, Lupus nephritis, Malar rash, Leukope... OMIM:152700
Short Fifth Metacarpals-Insulin Resistance Syndrome
Spherocytosis, Hyperinsulinemia, Splenomegaly ORPHA:66518
Sting-Associated Vasculopathy, Infantile-Onset
Skin rash, Pustule, Thrombocytosis, Tachypnea, Pulmonary fibrosis, Increased circulating IgA leve... OMIM:615934
Srd5A3-Cdg
Elevated hepatic transaminase, Hypothyroidism, Decreased response to growth hormone stimuation te... ORPHA:324737
Agammaglobulinemia 4, Autosomal Recessive
Chronic sinusitis, Recurrent otitis media, Neutropenia, Agammaglobulinemia, Recurrent pneumonia, ... OMIM:613502
Hypereosinophilic Syndrome, Idiopathic
Restrictive cardiomyopathy, Hepatomegaly, Endocardial fibrosis, Splenomegaly, Pulmonary infiltrat... OMIM:607685
Staphylococcal Necrotizing Pneumonia
Cough, Pneumonia, Elevated circulating C-reactive protein concentration, Leukopenia, Shock, Neutr... ORPHA:36238
Proteasome-Associated Autoinflammatory Syndrome 3
Skin rash, Elevated hepatic transaminase, Increased circulating antibody level, Lymphopenia, Pann... OMIM:617591
Immunodeficiency 70
Decreased circulating antibody level, Decreased proportion of CD4-positive helper T cells, Recurr... OMIM:618969
Immunodeficiency 42
Hypoplasia of the thymus OMIM:616622
Mixed Connective Tissue Disease
Skin rash, Hemolytic anemia, Pericarditis, Pleuritis, Pulmonary fibrosis, Dyspnea, Gastrointestin... ORPHA:809
Reticuloendotheliosis, X-Linked
Jaundice, Hepatosplenomegaly, Anemia, Lymphadenopathy OMIM:312500
Aicardi-Goutieres Syndrome 7
Atopic dermatitis, Increased circulating antibody level, Thrombocytopenia, Hepatomegaly, Nephroti... OMIM:615846
Immunodeficiency With Hyper-Igm, Type 4
Bronchiectasis, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Recurrent upper respira... OMIM:608184
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Exocrine pancreatic insufficiency, Autoimmune thrombocytopenia, Interstitial pneumonitis, Autoimm... OMIM:615952
Immunodeficiency 46
Intermittent thrombocytopenia, Chronic oral candidiasis, Decreased circulating antibody level, Ne... OMIM:616740
Thrombocytopenia, Anemia, And Myelofibrosis
Thrombocytopenia, Anisopoikilocytosis, Anemia, Splenomegaly OMIM:617441
Cinca Syndrome
Skin rash, Leukocytosis, Uveitis, Lymphadenopathy, Elevated circulating C-reactive protein concen... OMIM:607115
Immunodeficiency 51
Folliculitis, Recurrent bronchitis, Cutaneous abscess, Pustule, Chronic oral candidiasis, Recurre... OMIM:613953
8P11.2 Deletion Syndrome
Cryptorchidism, Atrial septal defect, Hemolytic anemia, Azoospermia, Splenomegaly, Hypogonadotrop... ORPHA:251066
Macrocephaly/Autism Syndrome
Short nose, Decreased circulating antibody level, Lymphopenia, Hepatomegaly, Splenomegaly, Depres... OMIM:605309
Lysosomal Acid Lipase Deficiency
Hypercholesterolemia, Vacuolated lymphocytes, Leukopenia, Anemia, Pulmonary arterial hypertension... OMIM:278000
Reticular Dysgenesis
Skin rash, Abnormality of neutrophils, Decreased circulating antibody level, Chronic otitis media... ORPHA:33355
Immunodeficiency 11B With Atopic Dermatitis
Atopic dermatitis, Pneumonia, Eosinophilia, Asthma OMIM:617638
Graft Versus Host Disease
Acute hepatitis, Hemophagocytosis, Gastrointestinal inflammation, Inflammatory abnormality of the... ORPHA:39812
Immunodeficiency, Common Variable, 2
Recurrent pneumonia, Recurrent bronchitis, Partial absence of specific antibody response to uncon... OMIM:240500
Immunodeficiency 11
Decreased circulating antibody level, Recurrent respiratory infections, Pneumonia OMIM:615206
Proteasome-Associated Autoinflammatory Syndrome 1
Elevated circulating thyroid-stimulating hormone concentration, Increased circulating IgG level, ... OMIM:256040
Familial Cold Autoinflammatory Syndrome 2
Skin rash, Leukocytosis, Pharyngalgia, Elevated circulating C-reactive protein concentration, Spl... OMIM:611762
Vitamin B12-Unresponsive Methylmalonic Acidemia
Respiratory insufficiency, Thrombocytopenia, Hepatomegaly, Anemia, Leukopenia, Pancreatitis, Rena... ORPHA:27
Idiopathic Hypereosinophilic Syndrome
Intracranial hemorrhage, Cough, Vasculitis in the skin, Generalized lymphadenopathy, Chronic hepa... ORPHA:3260
Fgfr2-Related Bent Bone Dysplasia
Clitoral hypertrophy, Extramedullary hematopoiesis, Hepatosplenomegaly ORPHA:313855
Erythrocytosis, Familial, 1
Increased hematocrit, Exertional dyspnea, Increased hemoglobin, Hypertension, Increased red blood... OMIM:133100
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Respiratory distress, Neutropenia, Thrombocytopenia, Hepatomegaly, Anemia, Splenomegaly, Pancreat... ORPHA:79312
Congenital Erythropoietic Porphyria
Red-brown urine, Hemolytic anemia, Scleritis, Increased erythrocyte protoporphyrin concentration,... ORPHA:79277
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Hypochromic anemia, Thrombocytosis, Increased circulating IgE level, Defective T cell proliferati... OMIM:618213
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Nonspherocytic hemolytic anemia, Cholecystitis, Impaired neutrophil bactericidal activity, Cholel... OMIM:613470
Microsporidiosis
Peritonitis, Bronchiolitis, Thyroiditis, Decreased proportion of CD4-positive helper T cells, Pne... ORPHA:2552
Familial Pseudohyperkalemia
Episodic hemolytic anemia, Stomatocytosis, Reticulocytosis, Hypertension, Increased mean corpuscu... ORPHA:90044
Erythroleukemia, Familial, Susceptibility To
Erythroid hyperplasia, Thrombocytopenia, Acute myeloid leukemia, Hepatomegaly, Anemia, Splenomega... OMIM:133180
Congenital Disorder Of Glycosylation, Type Iir
Micronodular cirrhosis, Elevated hepatic transaminase, Decreased circulating antibody level, Hepa... OMIM:301045
Refractory Anemia With Excess Blasts
Palpitations, Abnormal circulating albumin concentration, Exertional dyspnea, Leukocytosis, Throm... ORPHA:86839
Leukocyte Adhesion Deficiency Type Ii
Severe periodontitis, Abnormal isohemagglutinin level, Microcytic anemia, Leukocytosis, Recurrent... ORPHA:99843
Deafness-Lymphedema-Leukemia Syndrome
Leukocytosis, Intracranial hemorrhage, Chronic otitis media, Recurrent respiratory infections, Th... ORPHA:3226
Sea-Blue Histiocyte Disease
Thrombocytopenia, Cirrhosis, Sea-blue histiocytosis, Splenomegaly OMIM:269600
Drug-Induced Lupus Erythematosus
Dyspnea, Pericarditis, Increased blood urea nitrogen, Hematuria, Pericardial effusion, Thrombocyt... ORPHA:231111
Whim Syndrome
Severe periodontitis, Recurrent pneumonia, Respiratory tract infection, Bronchiectasis, Recurrent... ORPHA:51636
Immunodeficiency, Common Variable, 12, With Autoimmunity
Chronic pulmonary obstruction, Bronchiectasis, Autoimmune hemolytic anemia, Decreased circulating... OMIM:616576
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Recurrent otitis media, Recurrent respiratory infections, Neutropenia OMIM:616022
Good Syndrome
Dyspnea, Bronchiectasis, Decreased circulating antibody level, Cough, Aplasia/Hypoplasia of the t... ORPHA:169105
Indolent Systemic Mastocytosis
Increased proportion of CD25+ mast cells, Skin rash, Elevated total serum tryptase, Maculopapular... ORPHA:98848
Neonatal Lupus Erythematosus
Skin rash, Neutropenia, Maculopapular exanthema, Pancytopenia, Anemia, Thrombocytopenia, Atrioven... ORPHA:398124
Immunodeficiency 31C
Autoimmune hemolytic anemia, Hypothyroidism, Lymphopenia, Delayed puberty, Chronic mucocutaneous ... OMIM:614162
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Congenital agranulocytosis, Monocytosis, Thrombocytosis, Acute monocytic leukemia, Increased circ... OMIM:202700
Glycoprotein Storage Disease
Gout, Splenomegaly OMIM:232900
Chediak-Higashi Syndrome
Hemophagocytosis, Abnormal dense granules, Spontaneous, recurrent epistaxis, Impaired neutrophil ... OMIM:214500
Pantothenate Kinase-Associated Neurodegeneration
Abetalipoproteinemia, Acanthocytosis ORPHA:157850
Prolidase Deficiency
Recurrent pneumonia, Elevated circulating aspartate aminotransferase concentration, Short nose, I... OMIM:170100
Granulomatous disease with defect in neutrophil chemotaxis
Impaired neutrophil killing of staphylococci OMIM:233670
Immunodeficiency 36
Bronchiectasis, Decreased circulating antibody level, Lymphopenia, Chronic lymphatic leukemia, Sp... OMIM:616005
Autoinflammatory Syndrome, Familial, Behcet-Like
Skin rash, Hemolytic anemia, Lymphopenia, Genital ulcers, Colitis, Thrombocytopenia, Anterior uve... OMIM:616744
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Skin rash, Allergic rhinitis, Exocrine pancreatic insufficiency, Hepatomegaly, Jaundice, Splenome... OMIM:612714
Hb Bart'S Hydrops Fetalis
Pericarditis, Hepatomegaly, Congestive heart failure, Anemia, Splenomegaly, Abnormal hemoglobin ORPHA:163596
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
T lymphocytopenia, Increased circulating IgE level, Decreased proportion of CD8-positive T cells,... ORPHA:508533
Mitochondrial Dna Depletion Syndrome 19
Hypospadias, Hydrocele testis, Microcytic anemia OMIM:618972
Porphyria Cutanea Tarda
Increased circulating ferritin concentration, Cutaneous abscess, Hepatic lobular inflammation, Re... ORPHA:101330
Acute Myelomonocytic Leukemia
Dyspnea, Leukocytosis, Thrombocytopenia, Anemia, Eosinophilia ORPHA:517
Mucopolysaccharidosis-Plus Syndrome
Macrovesicular hepatic steatosis, Neutropenia, Hypoalbuminemia, Anemia, Leukopenia, Wide nose, In... OMIM:617303
Pneumocystosis
Dyspnea, Chronic oral candidiasis, Interstitial pneumonitis, Exertional dyspnea, Increased circul... ORPHA:723
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Arrhythmia, Ventricular septal defect, Respiratory insufficiency, Hypertension, Thrombocytopenia,... OMIM:617021
Elliptocytosis 1
Jaundice, Hemolytic anemia, Elliptocytosis, Splenomegaly OMIM:611804
Immunodeficiency 25
T lymphocytopenia, Recurrent pneumonia, Increased circulating IgM level, Increased circulating Ig... OMIM:610163
Dermatitis Herpetiformis
Eczema, Microcytic anemia ORPHA:1656
Ataxia-Pancytopenia Syndrome
Acute myelomonocytic leukemia, Neutropenia, Pancytopenia, Thrombocytopenia, Hypoplastic anemia, A... OMIM:159550
Necrobiosis Lipoidica
Granuloma, Telangiectasia of the skin, Abnormality of the thyroid gland, Abnormality of neutrophi... ORPHA:542592
Immunodeficiency 37
Decreased proportion of central memory CD4-positive, alpha-beta T cells OMIM:616098
Burkitt Lymphoma
Abnormality of the ovary, Gastrointestinal hemorrhage, Decreased proportion of CD4-positive helpe... ORPHA:543
Acute Peripheral Arterial Occlusion
Leukocytosis, Abnormal capillary physiology, Myocardial infarction, Supraventricular tachycardia,... ORPHA:90064
Whipple Disease
Pleuritis, Pericarditis, Gastrointestinal hemorrhage, Hypotension, Hypothyroidism, Cough, Hyponat... ORPHA:3452
Immunodeficiency With Hyper-Igm, Type 3
Impaired memory B cell generation, Increased circulating IgM level, Decreased circulating IgE, Ne... OMIM:606843
Fusariosis
Peritonitis, Pulmonary opacity, Bronchiectasis, Neutropenia, Pneumonia, Maculopapular exanthema, ... ORPHA:228119
X-Linked Sideroblastic Anemia
Dyspnea, Elevated hepatic transaminase, Abnormality of iron homeostasis, Anemia, Splenomegaly ORPHA:75563
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Decreased circulating total IgM, Neutropenia, Recurrent bronchopulmonary infections OMIM:610798
Ghosal Hematodiaphyseal Dysplasia
Anemia, Splenomegaly ORPHA:1802
Mantle Cell Lymphoma
Lymphadenopathy, Splenomegaly ORPHA:52416
Lymphangiectasia, Intestinal
Intestinal lymphangiectasia, Lymphopenia, Decreased circulating IgG level, Neonatal hypoproteinemia OMIM:152800
Amoebiasis Due To Entamoeba Histolytica
Lung abscess, Abnormal sputum, Acute colitis, Constrictive pericarditis, Dyspnea, Elevated hepati... ORPHA:67
Cyclic Neutropenia
Peritonitis, Respiratory tract infection, Recurrent tonsillitis, Decreased eosinophil count, Toot... ORPHA:2686
Elliptocytosis 2
Reticulocytosis, Neonatal hyperbilirubinemia, Hemolytic anemia, Elliptocytosis OMIM:130600
Hermansky-Pudlak Syndrome 2
Neutropenia, Thrombocytopenia, Reduced natural killer cell count, Absent platelet dense granules,... OMIM:608233
Myasthenia Gravis
Pure red cell aplasia, Hemolytic anemia, Dyspnea, Primary adrenal insufficiency, Rheumatoid arthr... ORPHA:589
Thrombocytopenia, Cyclic
Thrombocytopenia, Neutropenia, Cyclic neutropenia OMIM:188020
Gaucher Disease Type 1
Cirrhosis, Hematuria, Increased circulating antibody level, Pericardial effusion, Pulmonary arter... ORPHA:77259
Aggressive Systemic Mastocytosis
Increased proportion of CD25+ mast cells, Gastrointestinal hemorrhage, Elevated total serum trypt... ORPHA:98850
Glutamate Formiminotransferase Deficiency
Megaloblastic anemia, Hypersegmentation of neutrophil nuclei, Positive ferric chloride test, Amin... OMIM:229100
Chédiak-Higashi Syndrome
Increased circulating ferritin concentration, Skin rash, Vacuolated lymphocytes, Pericardial effu... ORPHA:167
Mevalonic Aciduria
Skin rash, Fluctuating hepatomegaly, Morbilliform rash, Elevated hepatic transaminase, Underdevel... OMIM:610377
Retinitis Pigmentosa And Erythrocytic Microcytosis
Elliptocytosis, Anisocytosis, Decreased serum iron, Anemia, Decreased mean corpuscular volume, Po... OMIM:616959
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency
Cirrhosis, Thyroiditis, Hypothyroidism, Choanal atresia, Acute hepatic failure, Neutropenia in pr... ORPHA:228426
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Skin rash, Pancytopenia, Elevated circulating C-reactive protein concentration, Anemia, Leukopeni... OMIM:615688
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Hemolytic anemia, Stomatocytosis, Epistaxis, Increased mean platelet volume, Splenomegaly OMIM:153670
Aa Amyloidosis
Acute kidney injury, Renal amyloidosis, Abnormal heart morphology, Enlarged kidney, Hypothyroidis... ORPHA:85445
Pseudo-Torch Syndrome 3
Increased circulating ferritin concentration, Apnea, Acute kidney injury, Leukocytosis, Lymphaden... OMIM:618886
Diamond-Blackfan Anemia 11
Neutropenia, Anemia of inadequate production, Anemia, Bicuspid aortic valve, Bone marrow hypocell... OMIM:614900
Late-Onset Isolated Acth Deficiency
Decreased circulating ACTH level, Adrenocorticotropin deficient adrenal insufficiency, Graves dis... ORPHA:199299
Gaucher Disease, Type Ii
Apnea, Thrombocytopenia, Hepatomegaly, Anemia, Splenomegaly, Recurrent aspiration pneumonia OMIM:230900
Shigellosis
Peritonitis, Acute kidney injury, Pneumonia, Abnormal blood ion concentration, Hypovolemic shock,... ORPHA:810
Methylcobalamin Deficiency Type Cble
Neutropenia, Hypertension, Pancytopenia, Abnormality of the liver, Hemolytic-uremic syndrome, Hyp... ORPHA:2169
Relapsing Fever
Increased total bilirubin, Hematuria, Acute kidney injury, Elevated hepatic transaminase, Leukocy... ORPHA:91547
Immunodeficiency 16
Coombs-positive hemolytic anemia, Pancytopenia, Splenomegaly OMIM:615593
Celiac Disease, Susceptibility To, 1
Iron deficiency anemia, Hypocalcemia, Thrombocytosis, Elevated hepatic transaminase, Thyroiditis,... OMIM:212750
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Respiratory insufficiency, Abnormality of the ureter, Splenomegaly, Aplasia/Hypoplasia of the lun... ORPHA:1046
Intrinsic Factor Deficiency
Megaloblastic anemia, Megaloblastic erythroid hyperplasia, Increased mean corpuscular volume OMIM:261000
Myeloma, Multiple
Amyloidosis, Paraproteinemia OMIM:254500
Diamond-Blackfan Anemia 5
Erythroid hypoplasia, Ventricular septal defect, Reticulocytopenia, Leukopenia, Hypospadias, Macr... OMIM:612528
Autosomal Dominant Severe Congenital Neutropenia
Monocytosis, Lymphopenia, Leukemia, Periodontitis, Neutropenia, Pneumonia, Recurrent sinopulmonar... ORPHA:486
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Increased circulating ferritin concentration, Hypochromia, Cirrhosis, Elevated hepatic transamina... OMIM:616860
Wolfram Syndrome, Mitochondrial Form
Hydroureter, Megaloblastic anemia, Neutropenia, Thrombocytopenia, Sideroblastic anemia, Hydroneph... OMIM:598500
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Noncompaction cardiomyopathy, Recurrent upper respiratory tract infections, Lymphopenia, Pannicul... ORPHA:508542
Diamond-Blackfan Anemia 6
Ventricular hypertrophy, Atrial septal defect, Persistence of hemoglobin F, Ventricular septal de... OMIM:612561
Gaucher Disease
Hematuria, Respiratory insufficiency, Pancytopenia, Delayed puberty, Elevated circulating C-react... ORPHA:355
Kikuchi-Fujimoto Disease
Lymphocytosis, Skin rash, Vasculitis in the skin, Generalized lymphadenopathy, Neutropenia, Eleva... ORPHA:50918
Autoimmune Polyendocrine Syndrome, Type Ii
Iron deficiency anemia, Cirrhosis, Exocrine pancreatic insufficiency, Primary adrenal insufficien... OMIM:269200
Schimke Immunoosseous Dysplasia
Bulbous nose, Focal segmental glomerulosclerosis, Proteinuria, Lymphopenia, Elevated circulating ... OMIM:242900
Duodenal Neuroendocrine Tumor
Elevated circulating growth hormone concentration, Insulinoma, Melena, Lymphadenopathy, Iron defi... ORPHA:100076
Neuroendocrine Tumor Of Stomach
Iron deficiency anemia, Cardiogenic shock, Palpitations, Right ventricular failure, Bronchospasm,... ORPHA:100075
Aapoaiv Amyloidosis
Cutaneous amyloidosis, Cardiac amyloidosis, Cardiac conduction abnormality, Elevated circulating ... ORPHA:439232
Peroxisome Biogenesis Disorder 2A (Zellweger)
Cryptorchidism, Apnea, Abnormal heart morphology, Elevated circulating long chain fatty acid conc... OMIM:214110
Cinca Syndrome
Abnormality of neutrophils, Leukocytosis, Abnormal granulocyte morphology, Retrobulbar optic neur... ORPHA:1451
Classic Mycosis Fungoides
Skin rash, Abnormal lymphocyte morphology, Hepatomegaly, Splenomegaly, Eczema, Lymphadenopathy ORPHA:2584
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Thrombocytopenia, Acute myeloid leukemia, Increased mean corpuscular volume OMIM:252270
Jervell And Lange-Nielsen Syndrome
Iron deficiency anemia, Arrhythmia, Ventricular fibrillation, Prolonged QTc interval, Torsade de ... ORPHA:90647
Sézary Syndrome
Abnormal pleura morphology, Abnormal lymphocyte morphology, Erythroderma, Hepatomegaly, Splenomeg... ORPHA:3162
Proteasome-Associated Autoinflammatory Syndrome 5
Hepatomegaly, Hypertriglyceridemia, Skin rash, Splenomegaly OMIM:619175
Hamamy Syndrome
Cryptorchidism, Hypochromic anemia, Atrial septal defect, Anteverted nares, Microcytic anemia, Pe... OMIM:611174
Pulmonary Arteriovenous Malformation
Iron deficiency anemia, Pulmonary hemorrhage, Palpitations, Dyspnea, Ischemic stroke, Bacterial e... ORPHA:2038
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Skin rash, Increased circulating IgM level, Leukocytosis, Panniculitis, Increased proportion of C... OMIM:617099
Cirrhosis, Familial
Increased circulating antibody level, Cirrhosis, Hepatitis, Chronic active hepatitis OMIM:118900
Ileal Neuroendocrine Tumor
Iron deficiency anemia, Cardiogenic shock, Palpitations, Arrhythmia, Right ventricular failure, E... ORPHA:100078
Jejunal Neuroendocrine Tumor
Iron deficiency anemia, Cardiogenic shock, Palpitations, Arrhythmia, Right ventricular failure, E... ORPHA:100077
Infantile Sialic Acid Storage Disease
Vacuolated lymphocytes, Conjugated hyperbilirubinemia, Hepatomegaly, Nephrotic syndrome, Congesti... OMIM:269920
Slc35A1-Cdg
Pulmonary hemorrhage, Respiratory distress, Neutropenia, Pneumonia, Thrombocytopenia, Giant plate... ORPHA:238459
Mccune-Albright Syndrome
Abnormal endocrine physiology, Elevated circulating growth hormone concentration, Increased circu... ORPHA:562
Hemolytic Poikilocytic Anemia Due To Reduced Ankyrin Binding Sites
Nonspherocytic hemolytic anemia, Heinz body anemia, Elliptocytosis, Poikilocytosis OMIM:141700
Melioidosis
Lung abscess, Prostatitis, Respiratory tract infection, Cutaneous abscess, Splenic abscess, Acute... ORPHA:31202
Systemic Capillary Leak Syndrome
Arrhythmia, Pericarditis, Cardiorespiratory arrest, Leukocytosis, Pleural effusion, Cough, Hypote... ORPHA:188
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Neutropenia, Recurrent bronchopulmonary infections ORPHA:90023
Immunodeficiency, Common Variable, 11
Decreased proportion of class-switched memory B cells, Failure to thrive OMIM:615767
Elliptocytosis 3
Chronic hemolytic anemia, Elliptocytosis, Intermittent jaundice, Pyropoikilocytosis, Decreased me... OMIM:617948
Glutathione Synthetase Deficiency
Reduced glutathione synthetase level, Increased level of L-pyroglutamic acid in urine, Hemolytic ... OMIM:266130
Immunodeficiency, Common Variable, 3
Decreased proportion of class-switched memory B cells, Recurrent otitis media, Recurrent sinusiti... OMIM:613493
Mirage Syndrome
Cryptorchidism, Microphallus, Hypergonadotropic hypogonadism, Intracranial hemorrhage, Lymphopeni... OMIM:617053
Noonan Syndrome 12
Atopic dermatitis, Ventricular septal defect, Lymphopenia, Pectus excavatum, Thrombocytopenia, Su... OMIM:618624
Catastrophic Antiphospholipid Syndrome
Coombs-positive hemolytic anemia, Microangiopathic hemolytic anemia, Abnormal heart valve morphol... ORPHA:464343
Immunodeficiency 32B
Bronchiectasis, Pneumonia, Splenomegaly, Sinusitis, Recurrent respiratory infections OMIM:226990
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To
Elevated red cell adenosine deaminase level, Hemolytic anemia, Stomatocytosis, Hyperuricemia, Ani... OMIM:102730
Poikiloderma With Neutropenia
Recurrent otitis media, Recurrent sinusitis, Increased circulating lactate dehydrogenase concentr... OMIM:604173
Wilson Disease
Cirrhosis, Hemolytic anemia, Hyperphosphaturia, Proteinuria, Hepatocellular carcinoma, Aminoacidu... OMIM:277900
Autoinflammation With Arthritis And Dyskeratosis
Autoimmune hemolytic anemia, Thyroiditis, Uveitis, Punctate keratitis, Hepatomegaly, Hypereosinop... OMIM:617388
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome
Cryptorchidism, Microcytic anemia, Insulin-resistant diabetes mellitus, Delayed puberty, Hypogona... ORPHA:293967
Bile Acid Synthesis Defect, Congenital, 3
Cirrhosis, Elevated hepatic transaminase, Intrahepatic cholestasis, Hepatomegaly, Jaundice, Hepat... OMIM:613812
Lcat Deficiency
Hemolytic anemia, Hematuria, Hypertension, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Rena... ORPHA:650
Mast Cell Sarcoma
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Mastocytosis, Lymphadenopathy ORPHA:66661
Immunodeficiency 55
Eczema, Recurrent skin infections, Neutropenia, Lymphadenopathy OMIM:617827
Diamond-Blackfan Anemia 4
Erythroid hypoplasia, Atrial septal defect, Neutropenia, Reticulocytopenia, Macrocytic anemia OMIM:612527
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Increased serum pyruvate, Splenomegaly, Hyperalaninemia, Hyperprolinemia, Cardiomyopathy, Macrocy... OMIM:619046
Adult Idiopathic Neutropenia
Monocytosis, Monocytopenia, Increased circulating IgM level, Lymphopenia, Neutropenia, Recurrent ... ORPHA:2688
Autosomal Dominant Hypophosphatemic Rickets
Iron deficiency anemia, Hypocalcemia, Hypophosphatemia, Hyperphosphaturia, Tooth abscess, Elevate... ORPHA:89937
Hemophagocytic Lymphohistiocytosis, Familial, 2
Increased circulating ferritin concentration, Hemophagocytosis, Increased total bilirubin, Hypopr... OMIM:603553
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Decreased circulating antibody level, Lymphopenia, Hypoproteinemia ORPHA:1116
Immunodeficiency, Common Variable, 7
Recurrent respiratory infections, Reduced isohemagglutinin level, Pharyngalgia, Decreased circula... OMIM:614699
Osteopetrosis, Autosomal Recessive 3
Extramedullary hematopoiesis, Hepatosplenomegaly, Anemia, Distal renal tubular acidosis OMIM:259730
Encephalopathy Due To Prosaposin Deficiency
Hepatomegaly, Recurrent respiratory infections, Respiratory insufficiency, Splenomegaly ORPHA:139406
Rh-Null, Regulator Type
Jaundice, Unconjugated hyperbilirubinemia, Hemolytic anemia, Stomatocytosis OMIM:268150
Fanconi Anemia, Complementation Group G