Gene Summary

Name:
phosphoglucomutase 3
Synonyms:
2810473H05Rik,  Pgm-3,  GlcNAc-P mutase

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
preweaning lethality, complete penetrance Pgm3em1(IMPC)Hmgu HOM   Early adult 1.79×10-07

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lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

Human diseases caused by Pgm3 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 Pgm3 by orthology or direct annotation.

The table below shows human diseases predicted to be associated to Pgm3 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Hepatomegaly, Thrombocytopenia, Neutropen... OMIM:615285
Diamond-Blackfan Anemia 19
Anemia, Erythroid hypoplasia, Steroid-responsive anemia OMIM:618312
Diamond-Blackfan Anemia-Like
Steroid-responsive anemia, Pure red cell aplasia OMIM:617911
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Pneumonia, Plasmacytosis, Lymphopenia, Autoimmune hemolytic anemia, Glomerulonephritis OMIM:247800
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Minimal change glomerulonephritis, Nephrotic syndrome, Podocyte foot process effacement, Proteinu... OMIM:617006
Transient Erythroblastopenia Of Childhood
Anemia, Transient erythroblastopenia OMIM:227050
Nephrotic Syndrome, Type 7
Thickened glomerular basement membrane, Acute kidney injury, Stage 5 chronic kidney disease, Podo... OMIM:615008
Immunodeficiency, Common Variable, 6
Abnormal T cell count, Mesangial Immune complex deposition, Stage 5 chronic kidney disease, Abnor... OMIM:613496
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Splenomegaly, Decreased proportion of class-switched memory B cells, Coombs-positive hemolytic an... OMIM:619375
Immunodeficiency 104
Pneumonia, Diarrhea, Gastroesophageal reflux, Eczematoid dermatitis, Chronic mucocutaneous candid... OMIM:608971
Kimura Disease
Eosinophilia, Abnormal salivary gland morphology, Follicular hyperplasia, Lymphadenopathy ORPHA:482
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Splenomegaly, Abnormal hemoglobin, Thrombocytopenia, Anemia, Abnormal platelet function ORPHA:231393
Diamond-Blackfan Anemia 17
Anemia OMIM:617409
Immune Thrombocytopenia
Thrombocytopenia OMIM:188030
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of memory ... OMIM:615559
Leukocyte Adhesion Deficiency, Type Iii
Abnormality of thrombocytes, Extramedullary hematopoiesis, Abnormal lymph node morphology, Hepato... OMIM:612840
Erythroleukemia, Familial, Susceptibility To
Erythroid hyperplasia, Splenomegaly, Hepatomegaly, Anemia, Acute myeloid leukemia, Thrombocytopen... OMIM:133180
Primary Myelofibrosis
Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly, Throm... ORPHA:824
X-Linked Sideroblastic Anemia And Spinocerebellar Ataxia
Anemia ORPHA:2802
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
T lymphocytopenia ORPHA:169095
Immunodeficiency 52
Recurrent pneumonia, Increased proportion of gamma-delta T cells, Lymphopenia, Abnormal B cell co... OMIM:617514
Hemoglobin D Disease
Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno... ORPHA:90039
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Hepatitis, Eczematoid dermatitis, Decreased FOXP3-expressing T cell count, Villous atrophy, Ileus... OMIM:304790
Immunodeficiency 76
Recurrent pneumonia, Lymphopenia, Splenomegaly, Chronic diarrhea, Lymphadenopathy, B lymphocytope... OMIM:619164
Autoinflammatory-Pancytopenia Syndrome
Cholestatic liver disease, Hepatic fibrosis, Granuloma, Hemophagocytosis, Hepatosplenomegaly, Pan... OMIM:619858
Alpha-Thalassemia
Cholelithiasis, Extramedullary hematopoiesis, Microcytic anemia, Hemoglobin Barts, Hepatosplenome... ORPHA:846
Bleeding Disorder, Platelet-Type, 9
Thrombocytopenia OMIM:614200
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Anemia, Leukocytosis, Ulcerative colitis, Bloody diarrhea OMIM:619398
Eosinophilia, Familial
Anemia, Eosinophilia, Leukocytosis, Thrombocytopenia OMIM:131400
Gray Platelet Syndrome
Abnormality of the menstrual cycle, Abnormality of thrombocytes, Splenomegaly, Thrombocytopenia ORPHA:721
Systemic Lupus Erythematosus
Nephritis, Leukopenia, Malar rash, Lupus nephritis, Thrombocytopenia, Arthritis, Hemolytic anemia... OMIM:152700
Acute Myelomonocytic Leukemia
Leukocytosis, Eosinophilia, Thrombocytopenia, Anemia, Abnormality of the gingiva ORPHA:517
Beemer Lethal Malformation Syndrome
Ambiguous genitalia, Thrombocytopenia OMIM:209970
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Anemia, Hepatomegaly, Splenomegaly, Persistence of hemoglobin F ORPHA:46532
Reticuloendotheliosis, X-Linked
Anemia, Jaundice, Hepatosplenomegaly, Lymphadenopathy OMIM:312500
Congenital Amegakaryocytic Thrombocytopenia
Anemia, Abnormal hemoglobin, Thrombocytopenia ORPHA:3319
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Hematuria, Glomerulonephritis, Thrombocytopenia OMIM:314000
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Amegakaryocytic thrombocytopenia ORPHA:71289
Immunodeficiency 19
Abnormal B cell morphology, Abnormal natural killer cell morphology, Recurrent otitis media, T ly... OMIM:615617
Bleeding Disorder, Platelet-Type, 19
Anemia, Macrothrombocytopenia, Thrombocytopenia, Menorrhagia OMIM:616176
Immunodeficiency 84
Perianal abscess, Splenomegaly, B lymphocytopenia OMIM:619437
Bilateral Striopallidodentate Calcinosis
Hepatomegaly, Abnormality of the liver, Thrombocytopenia ORPHA:1980
Bone Marrow Failure Syndrome 2
Anemia, Bone marrow hypocellularity, Leukopenia, Thrombocytopenia OMIM:615715
Beta-Thalassemia Intermedia
Cholelithiasis, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hypogonadism, Hepatosp... ORPHA:231222
Diamond-Blackfan Anemia 18
Erythroid hypoplasia, Neutropenia, Steroid-responsive anemia OMIM:618310
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hemophagocytosis, Splenomegaly, Hepatomegaly, Lymphadenopathy, Thrombocytopenia, Neutropenia, Ane... OMIM:603552
Neutropenia, Severe Congenital, 10, Autosomal Recessive
Anorectal abscess, Monocytosis, Thrombocytopenia, Neutropenia, Anemia OMIM:620534
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Bone marrow hypocellularity, Megaloblastic erythroid hyperplasia, Hypochromic ... ORPHA:75564
Congenital Atransferrinemia
Anemia, Abnormality of the pancreas ORPHA:1195
Alpha-Thalassemia-Myelodysplastic Syndrome
Acute leukemia, HbH hemoglobin, Microcytic anemia, Splenomegaly, Neutropenia, Thrombocytopenia ORPHA:231401
Niemann-Pick Disease, Type B
Sea-blue histiocytosis, Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia, Bone-marrow foam cells OMIM:607616
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Genital ulcers, Lymphopenia, Skin rash, Oral ulcer, Ileal ulcer, Thrombocytopenia, Colitis, Hemol... OMIM:616744
Cernunnos-Xlf Deficiency
Lymphopenia, Thrombocytopenia, B lymphocytopenia, Anemia, T lymphocytopenia ORPHA:169079
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hepatitis, Lymphopenia, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Autoimmune th... ORPHA:444463
Sea-Blue Histiocyte Disease
Cirrhosis, Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis OMIM:269600
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Hepatosplenomegaly, Congenital thrombocytopenia, Neutropenia, Thrombocytopenia, Anemia, Hydrocele... OMIM:616738
Polycythemia Vera
Gastrointestinal hemorrhage, Increased hematocrit, Leukocytosis, Splenomegaly, Increased red bloo... OMIM:263300
Hemoglobin-Delta locus
Anemia, Imbalanced hemoglobin synthesis OMIM:142000
Osteopetrosis, Autosomal Recessive 2
Carious teeth, Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Persistence of pri... OMIM:259710
Immunodeficiency, partial combined, with absence of hla determinantsand beta-2-microglobulin from lymphocytes
T lymphocytopenia OMIM:242870
Refractory Anemia
Normocytic anemia, Bone marrow hypocellularity, Anemia of inadequate production, Macrocytic anemi... ORPHA:98826
Hemoglobin H Disease
HbH hemoglobin, Splenomegaly, Hepatomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia OMIM:613978
Immunodeficiency 105
Reduced natural killer cell count, Absence of lymph node germinal center, Lymphopenia, Hepatosple... OMIM:619924
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Recurrent pneumonia, Abnormal CD4:CD8 ratio, Diarrhea, Recurrent aphthous stomatitis, Splenomegal... OMIM:150550
Immunodeficiency 91 And Hyperinflammation
Neutrophilia, Recurrent pneumonia, Hemophagocytosis, Hepatosplenomegaly, Intermittent diarrhea, R... OMIM:619644
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Splenomegaly, Decreased proportion of class-switched memory B cells, Increased proportion of tran... OMIM:615513
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hypersplenism, Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia OMIM:610539
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4
Abnormal B cell morphology OMIM:616911
Immunodeficiency, Common Variable, 5
Abnormal T cell count, Abnormal B cell count OMIM:613495
Hereditary Spherocytosis
Spontaneous hemolytic crises, Cholelithiasis, Increased mean corpuscular hemoglobin concentration... ORPHA:822
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Thrombocytopenia OMIM:166990
Neutrophilia, Hereditary
Splenomegaly, Neutrophilia OMIM:162830
Amegakaryocytic Thrombocytopenia, Congenital, 1
Pancytopenia, Thrombocytopenia, Amegakaryocytic thrombocytopenia OMIM:604498
Folate Malabsorption, Hereditary
Diarrhea, Leukopenia, Folate-responsive megaloblastic anemia, Oral ulcer, Thrombocytopenia, Neutr... OMIM:229050
Myelofibrosis
Hemophagocytosis, Extramedullary hematopoiesis, Splenomegaly, Hepatomegaly, Myeloproliferative di... OMIM:254450
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hemophagocytosis, Hepatosplenomegaly, Splenomegaly, Lymphadenopathy, Thrombocytopenia, Anemia, Co... OMIM:613101
Immunodeficiency 69
Diarrhea, Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly, Thrombo... OMIM:618963
Hemoglobin E-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin ORPHA:231249
Fanconi Anemia, Complementation Group G
Leukemia, Anemia, Neutropenia, Thrombocytopenia OMIM:614082
Preeclampsia/Eclampsia 1
Thrombocytopenia OMIM:189800
Atypical Hemolytic Uremic Syndrome
Acute kidney injury, Microangiopathic hemolytic anemia, Proteinuria, Hematuria, Thrombocytopenia ORPHA:2134
Immunodeficiency 24
Lymphopenia, Decreased proportion of memory B cells, Reduced proportion of mucosal-associated inv... OMIM:615897
Trimethylaminuria
Anemia, Splenomegaly, Neutropenia OMIM:602079
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Decreased helper T cell proportion, Pancytopenia, Splenomegaly, Hypersplenism OMIM:183350
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant
Macrothrombocytopenia OMIM:619840
Aicardi-Goutieres Syndrome 6
Hepatomegaly, Hemolytic anemia, Splenomegaly, Thrombocytopenia OMIM:615010
Thrombocytopenia 7
Reduced platelet alpha granules, Impaired arachidonic acid-induced platelet aggregation, Reduced ... OMIM:619130
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
Abnormally low T cell receptor excision circle level, Atopic dermatitis, T lymphocytopenia, Pneum... OMIM:618806
Beta-Thalassemia, Dominant Inclusion Body Type
Persistence of hemoglobin F, Microcytic anemia, Splenomegaly, Erythrocyte inclusion bodies, Hepat... OMIM:603902
Immunodeficiency 15A
Decreased proportion of memory B cells, Chronic mucocutaneous candidiasis, Cutaneous abscess, Acn... OMIM:618204
Mu-Heavy Chain Disease
Abnormal B cell count, Splenomegaly, Hepatomegaly, Lymphadenopathy, Anemia ORPHA:100024
Erythrocytosis, Familial, 8
Polycythemia, Increased hematocrit, Splenomegaly, Increased circulating hemoglobin concentration,... OMIM:222800
Aicardi-Goutieres Syndrome 3
Hepatosplenomegaly, Thrombocytopenia OMIM:610329
Dominant Beta-Thalassemia
Abnormality of the dentition, Hepatic fibrosis, Diarrhea, Reduced hemoglobin A, Extramedullary he... ORPHA:231226
Immunodeficiency 102
Nodular regenerative hyperplasia of liver, Reduced natural killer cell count, Increased proportio... OMIM:301082
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Bone marrow hypocellularity, Increased mean corpuscular volume, Pancytopenia, Acute myeloid leuke... OMIM:619041
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia
Menorrhagia, Macrothrombocytopenia, Thrombocytopenia, Impaired platelet aggregation OMIM:124900
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Increased mean corpuscular volume, Extramedullary hematopoiesis, Ascites, Sideroblastic anemia, E... OMIM:617021
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Anemia, Sideroblastic anemia, Decreased mean corpuscular volume, Hypochromia OMIM:205950
Fetal Parvovirus Syndrome
Anemia, Ascites, Thrombocytopenia ORPHA:295
Immunodeficiency 114, Folate-Responsive
Carious teeth, Lymphopenia, Aphthous ulcer, Lip fissure, Splenomegaly, Megaloblastic anemia, Thro... OMIM:620603
Beta-Thalassemia
Cholelithiasis, Hepatitis, Microcytic anemia, Splenomegaly, Abnormal hemoglobin, Hypogonadotropic... ORPHA:848
Beta-Thalassemia Major
Abnormality of the dentition, Hepatic fibrosis, Diarrhea, Reduced hemoglobin A, Extramedullary he... ORPHA:231214
Autoinflammation, Immune Dysregulation, And Eosinophilia
Atopic dermatitis, Hepatosplenomegaly, Hepatic cysts, Colonic eosinophilia, Eosinophilia, Membran... OMIM:618999
Leishmaniasis
Abnormal oral mucosa morphology, Pancytopenia, Leukopenia, Splenomegaly, Abnormal macrophage morp... ORPHA:507
Phosphoglycerate Dehydrogenase Deficiency
Decreased testicular size, Megaloblastic anemia, Thrombocytopenia OMIM:601815
Bleeding Disorder, Platelet-Type, 16
Platelet anisocytosis, Giant platelets, Thrombocytopenia, Impaired platelet aggregation, Anemia, ... OMIM:187800
Immunodeficiency 112
Reduced natural killer cell count, Chronic mucocutaneous candidiasis, Chronic diarrhea, Increased... OMIM:620449
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Splenomegaly, Microcytic anemia, Abnormal hemoglobin ORPHA:231242
Lymphoproliferative Syndrome 1
Hemophagocytosis, Pancytopenia, Leukopenia, Decreased proportion of CD4-positive helper T cells, ... OMIM:613011
Pontocerebellar Hypoplasia, Type 15
Anemia, Chronic neutropenia, Thrombocytopenia OMIM:619302
Thrombocytopenia With Beta-Thalassemia, X-Linked
Increased RBC distribution width, Reduced platelet alpha granules, Reticulocytosis, Splenomegaly,... OMIM:314050
Systemic Lupus Erythematosus 17
Myelitis, Lymphopenia, Leukopenia, Malar rash, Oral ulcer, Optic neuritis, Thrombocytopenia, Auto... OMIM:301080
Anemia, Sideroblastic, 5
Reduced hematocrit, Hypochromic microcytic anemia, Thrombocytopenia, Anemia, Neutropenia OMIM:619523
Hemophagocytic Lymphohistiocytosis, Familial, 3
Anemia, Hepatosplenomegaly, Hemophagocytosis, Granulocytopenia OMIM:608898
Igg4-Related Submandibular Gland Disease
Enlarged lacrimal glands, Xerostomia, Abnormal pancreas morphology, Abnormality of the submandibu... ORPHA:449432
Omenn Syndrome
Diarrhea, Splenomegaly, Hypoplasia of the thymus, Eosinophilia, Anemia, Hepatomegaly, Lymphadenop... OMIM:603554
Agammaglobulinemia 8B, Autosomal Recessive
B Acute Lymphoblastic Leukemia, Everted upper lip vermilion, Pancytopenia, Splenomegaly, Increase... OMIM:619824
C3 Glomerulopathy 3
Thickening of glomerular capillary wall, Stage 5 chronic kidney disease, Renal insufficiency, Mes... OMIM:614809
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Recurrent pneumonia, Inflammatory abnormality of the skin, Diarrhea, Absence of lymph node germin... ORPHA:277
Immunodeficiency 48
Pneumonia, Eczematoid dermatitis, Abnormal B cell count, Splenomegaly, Impaired lymphocyte transf... OMIM:269840
Malaria
Anemia, Thrombocytopenia ORPHA:673
Combined Immunodeficiency, X-Linked
Pneumonia, Abnormal T cell count, Decreased proportion of CD8-positive T cells, Decreased proport... OMIM:312863
Al Amyloidosis
Howell-Jolly bodies, Nephrotic syndrome, Gastrointestinal hemorrhage, Xerostomia, Gastroparesis, ... ORPHA:85443
Idiopathic Non-Lupus Full-House Nephropathy
Acute kidney injury, Abnormal glomerular mesangium morphology, Renal insufficiency, Skin rash, Gl... ORPHA:567544
Congenital Toxoplasmosis
Diarrhea, Ascites, Cardiomegaly, Hepatomegaly, Lymphadenopathy, Thrombocytopenia, Anemia, Jaundice ORPHA:858
Autoimmune Lymphoproliferative Syndrome, Type Iia
Nephritis, Gastrointestinal hemorrhage, Malar rash, Chronic noninfectious lymphadenopathy, Autoim... OMIM:603909
Osteopetrosis, Autosomal Recessive 8
Anemia, Hepatomegaly, Splenomegaly, Thrombocytopenia OMIM:615085
Immunodeficiency 16
Pancytopenia, Coombs-positive hemolytic anemia, Splenomegaly OMIM:615593
Ataxia-Pancytopenia Syndrome
Acute myelomonocytic leukemia, Pancytopenia, Thrombocytopenia, Neutropenia, Anemia, Hypoplastic a... OMIM:159550
Transaldolase Deficiency
Hepatosplenomegaly, Cirrhosis, Thrombocytopenia, Anemia, Abnormal clitoris morphology ORPHA:101028
Autoinflammation With Infantile Enterocolitis
Reduced natural killer cell count, Secretory diarrhea, Pancytopenia, Villous atrophy, Splenomegal... OMIM:616050
Gamma-Heavy Chain Disease
Abnormal lymphocyte morphology, Splenomegaly, Autoimmune hemolytic anemia, Abnormal palate morpho... ORPHA:100026
Hyperbilirubinemia, Shunt, Primary
Erythroid hyperplasia, Splenomegaly, Anemia of inadequate production, Reticulocytosis, Hepatomega... OMIM:237800
Combined Cellular And Humoral Immune Defects With Granulomas
T lymphocytopenia, B lymphocytopenia OMIM:233650
Pgm3-Cdg
Allergic rhinitis, Abnormal CD4:CD8 ratio, Lymphopenia, Esophagitis, Decreased proportion of CD4-... ORPHA:443811
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome
Enamel hypomineralization, Iron deficiency anemia, Thrombocytopenia, Neutropenia, Increased mean ... ORPHA:494444
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Hypochromic anemia, Cryptorchidism, Anemia of inadequate production, Anisocytosis, Poikilocytosis... ORPHA:67044
Isolated Agammaglobulinemia
Pneumonia, Diarrhea, Abnormal lymphocyte morphology, Otitis media, Skin rash, Abnormality of the ... ORPHA:229717
Autoinflammation With Episodic Fever And Lymphadenopathy
Recurrent tonsillitis, Microcytic anemia, Splenomegaly, Oral ulcer, Lymphadenopathy, Hepatomegaly OMIM:618852
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Jaundice, Splenomegaly, Nonspherocytic hemolytic anemia OMIM:206400
Immunodeficiency 97 With Autoinflammation
Diarrhea, Hemophagocytosis, Decreased proportion of CD8-positive T cells, Lymphopenia, Hepatosple... OMIM:619802
Schimke Immuno-Osseous Dysplasia
Nephropathy, Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Bone marrow h... ORPHA:1830
Bleeding Disorder, Platelet-Type, 24
Platelet anisocytosis, Impaired arachidonic acid-induced platelet aggregation, Impaired epinephri... OMIM:619271
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
T lymphocytopenia, Decreased helper T cell proportion OMIM:601705
Melioidosis
Pneumonia, Brain abscess, Cutaneous abscess, Hepatitis, Parotitis, Foot osteomyelitis, Abnormalit... ORPHA:31202
Myelolymphatic Insufficiency
Leukopenia, Hyposegmentation of neutrophil nuclei OMIM:310350
Immunodeficiency 13
Recurrent pneumonia, Recurrent otitis media, Lymphopenia, Decreased CD4:CD8 ratio, Decreased prop... OMIM:615518
Bernard-Soulier Syndrome
Gingival bleeding, Gastrointestinal hemorrhage, Giant platelets, Thrombocytopenia, Impaired risto... OMIM:231200
Thrombocytopenia 9
Abnormal platelet aggregation, Thrombocytopenia OMIM:620478
Bone Marrow Failure Syndrome 4
Anemia, Bone marrow hypocellularity, Leukopenia, Thrombocytopenia OMIM:618116
Immunodeficiency 21
Reduced natural killer cell count, Aplastic anemia, Lymphopenia, Osteomyelitis, Anemia, Neutropen... OMIM:614172
Anemia, Congenital Dyserythropoietic, Type Ib
Erythroid hyperplasia, Splenomegaly, Anemia of inadequate production, Anisocytosis, Reticulocytos... OMIM:615631
Immunodeficiency 98 With Autoinflammation, X-Linked
Bone marrow hypocellularity, Hemophagocytosis, Agranulocytosis, Recurrent aphthous stomatitis, Au... OMIM:301078
Cyclic Neutropenia
Recurrent tonsillitis, Periodontitis, Atrophy of alveolar ridges, Cervical lymphadenopathy, Lymph... ORPHA:2686
Immunodeficiency 115 With Autoinflammation
Eczematoid dermatitis, Intestinal lymphangiectasia, Intermittent diarrhea, Splenomegaly, Superfic... OMIM:620632
Immunodeficiency 46
Anemia, Chronic diarrhea, Neutropenia, Intermittent thrombocytopenia OMIM:616740
Babesiosis
Leukopenia, Splenomegaly, Thrombocytopenia, Hepatomegaly, Jaundice, Hemolytic anemia ORPHA:108
Thyrocerebrorenal Syndrome
Nephritis, Renal insufficiency, Euthyroid goiter, Thrombocytopenia ORPHA:3327
Congenital Bile Acid Synthesis Defect Type 2
Giant cell hepatitis, Extramedullary hematopoiesis, Cholestasis, Hepatic steatosis, Prolonged neo... ORPHA:79303
Isobutyryl-Coa Dehydrogenase Deficiency
Anemia OMIM:611283
Immunodeficiency, Common Variable, 1
Pneumonia, Abnormal T cell count, Recurrent pneumonia, Diarrhea, Recurrent otitis media, Splenome... OMIM:607594
Ras-Associated Autoimmune Leukoproliferative Disorder
Pancytopenia, Splenomegaly, Follicular hyperplasia, Hepatomegaly, Lymphocytosis, Neutropenia, Mon... OMIM:614470
Wiskott-Aldrich Syndrome 2
Decreased proportion of CD8-positive T cells, Eczematoid dermatitis, Thrombocytopenia OMIM:614493
Nephronophthisis
Anemia ORPHA:655
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia OMIM:252270
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Pneumonia, Diarrhea, Otitis media, Purulent rhinitis, Arthritis, B lymphocytopenia, Conjunctiviti... OMIM:601457
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Giant platelets, Leukocyte inclusion bodies, Impaired ADP-induced platelet aggregation, Thrombocy... OMIM:155100
Hemoglobin E Disease
Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Splenomega... ORPHA:2133
Autoimmune Lymphoproliferative Syndrome
Lymphopenia, Hypersplenism, Decreased proportion of CD4-positive helper T cells, Abnormal proport... ORPHA:3261
Transcobalamin Deficiency
Acute kidney injury, Methylmalonic aciduria, Lymphopenia, Pancytopenia, Thrombocytopenia, Neutrop... ORPHA:859
Bleeding Disorder, Platelet-Type, 20
Menorrhagia, Thrombocytopenia OMIM:616913
Von Willebrand Disease, Type 2
Menorrhagia, Thrombocytopenia OMIM:613554
Forsythe-Wakeling Syndrome
Thrombocytopenia OMIM:613606
Diffuse Neonatal Hemangiomatosis
Abnormal vagina morphology, Ascites, Hepatomegaly, Thrombocytopenia, Anemia ORPHA:2123
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Splenomegaly, Hepatomegaly, Pancreatitis, Thrombocytopenia, Neutropenia, Anemia ORPHA:79312
Alpha-Heavy Chain Disease
Ascites, Abnormal small intestine morphology, Splenomegaly, Hepatomegaly, Lymphadenopathy, Anemia ORPHA:100025
Immunodeficiency 75 With Lymphoproliferation
Hepatosplenomegaly, Decreased proportion of class-switched memory B cells, Follicular hyperplasia... OMIM:619126
Immunodeficiency 32B
Impaired oxidative burst, Splenomegaly, Hepatomegaly, Eosinophilia, Monocytopenia, Thrombocytopen... OMIM:226990
Hemochromatosis, Type 2B
Hepatic fibrosis, Hypogonadism, Splenomegaly, Hepatomegaly, Cirrhosis, Anemia, Secondary amenorrhea OMIM:613313
Hepatoportal Sclerosis
Nodular regenerative hyperplasia of liver, Gastrointestinal hemorrhage, Periportal fibrosis, Abno... ORPHA:64743
Roch-Leri Mesosomatous Lipomatosis
Thrombocytopenia ORPHA:529
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Interstitial pneumonitis, Splenomegaly, Autoimmune hemolytic anemia, Neutropenia in presence of a... ORPHA:231154
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hypogonadism, Sideroblastic anemia, Azoospermia, Splenomegaly, Hepatomegaly, Hypochromia, Poikilo... OMIM:615234
Immunodeficiency 18
Reduced natural killer cell count, Recurrent pneumonia, Recurrent otitis media, Lymphopenia, Abno... OMIM:615615
Amed Syndrome, Digenic
Bone marrow hypocellularity, Leukopenia, Acute myeloid leukemia, Thrombocytopenia, Anemia, Hypopl... OMIM:619151
Cyanosis, Transient Neonatal
Reticulocytosis, Methemoglobinemia, Hepatomegaly, Anemia, Jaundice OMIM:613977
Thanatophoric Dysplasia, Glasgow Variant
Anemia, Hepatosplenomegaly OMIM:273680
Erythrocytosis, Familial, 1
Increased circulating hemoglobin concentration, Increased hematocrit, Splenomegaly, Increased red... OMIM:133100
Osteopetrosis, Autosomal Recessive 3
Anemia, Hepatosplenomegaly, Dental malocclusion, Extramedullary hematopoiesis OMIM:259730
Fanconi Anemia, Complementation Group T
Bone marrow hypocellularity, Pancytopenia, Acute myeloid leukemia, Thrombocytopenia, Anemia OMIM:616435
Thrombocytopenia, Anemia, And Myelofibrosis
Anemia, Splenomegaly, Thrombocytopenia, Anisopoikilocytosis OMIM:617441
Chronic Myeloid Leukemia
Abnormal granulocyte morphology, Leukocytosis, Splenomegaly, Abnormal basophil morphology, Thromb... ORPHA:521
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Reduced natural killer cell count, Hemophagocytosis, Hepatocellular carcinoma, Hepatosplenomegaly... ORPHA:158057
Immunodeficiency 109 With Lymphoproliferation
Pancytopenia, Absent circulating B cells, Splenomegaly, Generalized lymphadenopathy OMIM:620282
Immunodeficiency 57 With Autoinflammation
Inflammation of the large intestine, Reduced natural killer cell count, Diarrhea, Skin rash, Peri... OMIM:618108
Acute Erythroid Leukemia
Bone marrow hypocellularity, Pancytopenia, Leukopenia, Erythroid hypoplasia, Anemia ORPHA:318
Burkitt Lymphoma
Gastrointestinal hemorrhage, Abnormal lymph node morphology, Abnormality of the ovary, Abnormalit... ORPHA:543
Immunodeficiency 14B, Autosomal Recessive
Neutrophilia, Inflammation of the large intestine, Recurrent pneumonia, Thrombocytosis, Leukocyto... OMIM:619281
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Reduced red cell pyruvate kinase level, Congenital hemolytic anemia, Abnormal erythrocyte morphol... ORPHA:766
Severe Combined Immunodeficiency, X-Linked
Pneumonia, Recurrent pneumonia, Skin rash, Chronic diarrhea, Hypoplasia of the thymus, Impaired l... OMIM:300400
Agammaglobulinemia 3, Autosomal Recessive
Diarrhea, Recurrent otitis media, Absent circulating B cells, Neutropenia, Abnormal T cell morpho... OMIM:613501
Nephrotic Syndrome, Type 23
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Steroid-resistant nephroti... OMIM:619201
Giant platelet syndrome with thrombocytopenia
Gastrointestinal hemorrhage, Giant platelets, Thrombocytopenia OMIM:137560
Ghosal Hematodiaphyseal Dysplasia
Anemia, Splenomegaly ORPHA:1802
Bleeding Disorder, Platelet-Type, 22
Gastrointestinal hemorrhage, Impaired arachidonic acid-induced platelet aggregation, Impaired ADP... OMIM:618462
Vitamin B12-Unresponsive Methylmalonic Acidemia
Leukopenia, Macrocytic anemia, Hepatomegaly, Pancreatitis, Thrombocytopenia, Anemia ORPHA:27
Osteopetrosis, Autosomal Recessive 5
Extramedullary hematopoiesis, Long philtrum, Ascites, Hepatosplenomegaly, Pancytopenia, Leukocyto... OMIM:259720
Chromosome 5Q Deletion Syndrome
Erythroid hypoplasia, Refractory macrocytic anemia, Anemia of inadequate production OMIM:153550
Pontocerebellar Hypoplasia, Type 14
Chronic neutropenia, Thrombocytopenia OMIM:619301
Aicardi-Goutieres Syndrome 4
Hepatosplenomegaly, Pancytopenia, Splenomegaly, Thrombocytopenia, Hepatomegaly OMIM:610333
Lymphoproliferative Syndrome, X-Linked, 1
Abnormal T cell count, Aplastic anemia, Hemophagocytosis, Pancytopenia, Abnormal B cell count, Sp... OMIM:308240
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Abnormally low T cell receptor excision circle level, Cervical lymphadenopathy, B lymphocytopenia OMIM:618987
Atelis Syndrome 1
Carious teeth, Eczematoid dermatitis, Long philtrum, Leukopenia, Glue ear, Thrombocytopenia, Anem... OMIM:620184
Immunodeficiency 103, Susceptibility To Fungal Infections
Hypereosinophilia, Abnormal B cell count, Abnormal proportion of CD8-positive T cells, Abnormal p... OMIM:212050
Immunodeficiency 62
Decreased proportion of memory B cells, Increased proportion of transitional B cells, B lymphocyt... OMIM:618459
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Decreased proportion of CD8-positive T cells, Lymphopenia, Hepatosplenomegaly, Decreased proporti... ORPHA:169154
Platelet Glycoprotein Iv Deficiency
Giant platelets, Thrombocytopenia OMIM:608404
Dk Phocomelia Syndrome
Thrombocytopenia OMIM:223340
Congenital Syphilis
Diarrhea, Extramedullary hematopoiesis, Hepatosplenomegaly, Prolonged neonatal jaundice, Pancreat... ORPHA:499009
Hemochromatosis, Type 3
Lymphopenia, Hypogonadotropic hypogonadism, Amenorrhea, Cirrhosis, Neutropenia, Anemia, Impotence OMIM:604250
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Splenic infarction, Persistence of hemoglobin F, Increased red cell sickling tendency, Reticulocy... ORPHA:251380
Bleeding Disorder, Platelet-Type, 25
Impaired ADP-induced platelet aggregation, Thrombocytopenia, Macrothrombocytopenia, Impaired coll... OMIM:620486
Cystic Echinococcosis
Cholestatic liver disease, Peritoneal abscess, Abnormality of the testis size, Splenic cyst, Ovar... ORPHA:400
Thrombocytopenia 5
Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Neutropenia, Thrombocytopenia,... OMIM:616216
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Hepatomegaly, Pancreatitis, Thrombocytopenia, Neutropenia, Anemia ORPHA:289916
Cholesteryl Ester Storage Disease
Hepatic bridging fibrosis, Hepatic fibrosis, Periportal fibrosis, Diarrhea, Vomiting, Increased h... OMIM:278000
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Recurrent otitis media, Decreased CD4:CD8 ratio, Decreased proportion of CD4-positive helper T ce... OMIM:300853
Tularemia
Pneumonia, Brain abscess, Cutaneous abscess, Cervical lymphadenopathy, Abnormal nasopharyngeal ad... ORPHA:3392
Agammaglobulinemia 8A, Autosomal Dominant
Recurrent otitis media, B lymphocytopenia OMIM:616941
Osteopetrosis, Autosomal Recessive 4
Splenomegaly, Reticulocytosis, Hepatomegaly, Thrombocytopenia, Anemia OMIM:611490
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Abnormally low T cell receptor excision circle level, Recurrent pneumonia, Lymphadenitis, Recurre... OMIM:618986
Non-Involuting Congenital Hemangioma
Hepatic hemangioma, Thrombocytopenia ORPHA:141179
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Inflammatory abnormality of the skin, Psoriasiform dermatitis, Abnormal intestine morphology, Cru... ORPHA:37042
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Ascites, Narrow mouth, Splenomegaly, Anemia, Hypoplasia of penis, Hypospadias, Thin vermilion border ORPHA:1046
Activated Pi3K-Delta Syndrome
Pneumonia, Recurrent tonsillitis, Recurrent otitis media, Splenomegaly, Chronic sinusitis, Abnorm... ORPHA:397596
Thrombotic Thrombocytopenic Purpura
Acute kidney injury, Diarrhea, Microangiopathic hemolytic anemia, Renal insufficiency, Reticulocy... ORPHA:54057
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
T lymphocytopenia DECIPHER:16
Spermatogenic Failure 72
Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Reduced progressive spe... OMIM:619867
Spermatogenic Failure 34
Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Short sperm flagella, A... OMIM:618153
Platelet Signal Processing Defect
Impaired collagen-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Thromb... OMIM:173590
Lipodystrophy, Partial, Acquired, Susceptibility To
Hepatic steatosis, Polycystic ovaries, Proteinuria, Hematuria, Membranoproliferative glomerulonep... OMIM:608709
Persistent Polyclonal B-Cell Lymphocytosis
Hepatomegaly, Lymphocytosis, Splenomegaly OMIM:606445
Immunodeficiency 40
Focal active colitis, Recurrent pneumonia, Eosinophilic granuloma, Recurrent otitis media, Interm... OMIM:616433
Immunodeficiency 85 And Autoimmunity
Decreased proportion of memory B cells, Reduced natural killer cell count, Vomiting, Eczematoid d... OMIM:619510
Specific Granule Deficiency 2
Tooth malposition, Intractable diarrhea, Conical tooth, Absent neutrophil specific granules, Amel... OMIM:617475
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Gingival bleeding, Stomatocytosis, Impaired ADP-induced platelet aggregation, Splenomegaly, Impai... OMIM:153670
Complement Component 3 Deficiency, Autosomal Recessive
Recurrent pneumonia, Recurrent tonsillitis, Renal insufficiency, Membranoproliferative glomerulon... OMIM:613779
Noonan Syndrome 12
Atopic dermatitis, Anteriorly placed anus, Decreased response to growth hormone stimulation test,... OMIM:618624
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Acute monocytic leukemia, Congenital agranulocytosis, Thrombocytosis, Eosinophilia, Neutropenia, ... OMIM:202700
Anemia, Congenital Dyserythropoietic, Type Ii
Cholelithiasis, Splenomegaly, Anemia of inadequate production, Reticulocytosis, Jaundice OMIM:224100
Immunodeficiency 113 With Autoimmunity And Autoinflammation
Neutrophilia, Minimal change glomerulonephritis, Hematochezia, Hepatitis, Eczematoid dermatitis, ... OMIM:620565
Immunodeficiency 23
Allergic rhinitis, Eczematoid dermatitis, Chronic mucocutaneous candidiasis, Lymphopenia, Abscess... OMIM:615816
Wolfram Syndrome, Mitochondrial Form
Hydroureter, Sideroblastic anemia, Hydronephrosis, Megaloblastic anemia, Neutropenia, Thrombocyto... OMIM:598500
Spermatogenic Failure 35
Absent sperm axoneme central pair complex, Short sperm flagella, Absent sperm flagella, Male infe... OMIM:618341
Portal Hypertension, Noncirrhotic, 2
Nodular regenerative hyperplasia of liver, Ascites, Portal hypertension, Splenomegaly, Thrombocyt... OMIM:619463
Von Willebrand Disease, Platelet-Type
Intermittent thrombocytopenia OMIM:177820
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Abnormally low T cell receptor excision circle level, Genital ulcers, Lymphopenia, Lymph node hyp... OMIM:602450
Moyamoya Disease 6 With Or Without Achalasia
Impotence, Achalasia, Dysphagia, Thrombocytopenia OMIM:615750
Osteopetrosis, Autosomal Dominant 3
Hyperparathyroidism, Splenomegaly, Gingivitis, Hepatomegaly, Anemia, Premature loss of teeth OMIM:618107
Spermatogenic Failure, X-Linked, 5
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Absent s... OMIM:301099
Sea-Blue Histiocytosis
Sea-blue histiocytosis, Splenomegaly, Thrombocytopenia, Hepatomegaly, Mediastinal lymphadenopathy ORPHA:158029
Spermatogenic Failure 65
Irregularly shaped sperm tail, Reduced progressive sperm motility, Abnormal sperm mid-piece morph... OMIM:619712
Spermatogenic Failure 84
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Bent spe... OMIM:620409
Nephrotic Syndrome, Type 10
Minimal change glomerulonephritis, Nephrotic syndrome, Steroid-resistant nephrotic syndrome, Podo... OMIM:615861
Primary Membranoproliferative Glomerulonephritis
Chronic kidney disease, Acute kidney injury, Stage 5 chronic kidney disease, Renal insufficiency,... ORPHA:54370
Immunodeficiency 27A
Diarrhea, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Lymphadenopathy, Thrombocytosis, Anemia... OMIM:209950
Amegakaryocytic Thrombocytopenia, Congenital, 2
Bone marrow hypocellularity, Aplastic anemia, Pancytopenia, Thrombocytopenia, Neutropenia, Anemia OMIM:620481
Spherocytosis, Type 5
Abnormal leukocyte count, Splenomegaly, Reticulocytosis, Abnormal platelet count, Spherocytosis, ... OMIM:612690
Gaucher Disease, Type Iii
Hepatomegaly, Pancytopenia, Splenomegaly, Thrombocytopenia OMIM:231000
Aggressive Systemic Mastocytosis
Gastrointestinal hemorrhage, Diarrhea, Ascites, Hepatosplenomegaly, Pancytopenia, Hypersplenism, ... ORPHA:98850
Stuve-Wiedemann Syndrome 2
Eczematoid dermatitis, Neonatal death, Thrombocytopenia, Stillbirth, Dysphagia OMIM:619751
Spermatogenic Failure, X-Linked, 6
Absent sperm axoneme central pair complex, Recurrent pneumonia, Abnormal male external genitalia ... OMIM:301101
Transaldolase Deficiency
Hepatic fibrosis, Clitoral hypertrophy, Micronodular cirrhosis, Hepatosplenomegaly, Pancytopenia,... OMIM:606003
Thrombocytopenia 4
Abnormal platelet volume, Thrombocytopenia OMIM:612004
Congenital Disorder Of Glycosylation, Type Iik
Hepatomegaly, Amelogenesis imperfecta, Thrombocytopenia OMIM:614727
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization
Nephrotic syndrome, Renal insufficiency, Glomerulonephritis, Glomerular deposits ORPHA:69063
Brucellosis
Arteritis, Sacroiliac arthritis, Hypersplenism, Knee osteoarthritis, Glomerulonephritis, Hepatome... ORPHA:1304
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Diarrhea, Brain abscess, Abnormal lymph node morphology, Abnormality of the lymphatic system, Abn... ORPHA:54251
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hepatosplenomegaly, Erythroid hyperplasia, Splenomegaly, Anisocytosis, Hepatomegaly, Cirrhosis, H... OMIM:616860
Rapidly Involuting Congenital Hemangioma
Hepatic hemangioma, Thrombocytopenia ORPHA:141184
Reticular Dysgenesis
Lymphopenia, Leukopenia, Congenital agranulocytosis, Hypoplasia of the thymus OMIM:267500
Igg4-Related Kidney Disease
Chronic kidney disease, Inflammatory abnormality of the skin, Lymphadenitis, Arteritis, Abnormal ... ORPHA:449395
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Fluctuating splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Neutropenia in presence o... OMIM:619220
Immunodeficiency 64 With Lymphoproliferation
Increased proportion autoreactive unresponsive CD21-/low B cells, Abnormal CD4:CD8 ratio, Cervica... OMIM:618534
Neutropenia, Severe Congenital, 2, Autosomal Dominant
B lymphocytopenia, Neutropenia, Monocytosis OMIM:613107
Combined Immunodeficiency Due To Dock8 Deficiency
Pneumonia, Atopic dermatitis, Recurrent sinusitis, B lymphocytopenia, Chronic otitis media, T lym... ORPHA:217390
Igg4-Related Retroperitoneal Fibrosis
Rheumatoid arthritis, Psoriasiform dermatitis, Hematuria, Retrograde ejaculation, Deep dermal per... ORPHA:49041
Idiopathic Pulmonary Hemosiderosis
Hepatomegaly, Hepatosplenomegaly, Iron deficiency anemia, Glomerulonephritis ORPHA:99931
Thyrocerebroretinal Syndrome
Nephritis, Thrombocytopenia, Goiter OMIM:274240
Imerslund-Gräsbeck Syndrome
Anisopoikilocytosis, Vomiting, Hypersegmentation of neutrophil nuclei, Pancytopenia, Reticulocyto... ORPHA:35858
Ataxia-Pancytopenia Syndrome
Acute myelomonocytic leukemia, Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Hypopl... ORPHA:2585
Spermatogenic Failure 33
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... OMIM:618152
Spermatogenic Failure 37
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... OMIM:618429
Spermatogenic Failure 18
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... OMIM:617576
Spermatogenic Failure 46
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... OMIM:619095
Spermatogenic Failure 27
Absent sperm axoneme central pair complex, Short sperm flagella, Absent sperm flagella, Reduced s... OMIM:617965
Focal Segmental Glomerulosclerosis 10
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Stage 5 chronic kidney dis... OMIM:256020
Thymoma
Rheumatoid arthritis, Aplastic anemia, Imbalanced hemoglobin synthesis, Myositis, Glomerulonephri... ORPHA:99867
Fgfr2-Related Bent Bone Dysplasia
Clitoral hypertrophy, Natal tooth, Extramedullary hematopoiesis, Hepatosplenomegaly, Gingival ove... ORPHA:313855
Hypereosinophilic Syndrome, Idiopathic
Hepatomegaly, Eosinophilia, Myeloproliferative disorder, Splenomegaly OMIM:607685
Bleeding Disorder, Platelet-Type, 15
Platelet anisocytosis, Impaired clot retraction, Impaired ADP-induced platelet aggregation, Throm... OMIM:615193
Dyskeratosis Congenita, Autosomal Recessive 2
Bone marrow hypocellularity, Oral leukoplakia, Pancytopenia, Cirrhosis, Thrombocytopenia, Testicu... OMIM:613987
Partial Chromosome Y Deletion
Decreased testicular size, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal... ORPHA:1646
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Abnormal T cell count, Lymphadenitis, Protracted diarrhea, Lymphopenia, Hepatosplenomegaly, Decre... ORPHA:331206
Variant Abeta2M Amyloidosis
Chronic kidney disease, Renal amyloidosis, Hepatic amyloidosis, Abnormal salivary gland morpholog... ORPHA:314652
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Bone marrow hypocellularity, Abnormal neutrophil morphology, Leukopenia, Abnormal erythrocyte mor... ORPHA:86841
Spermatogenic Failure 56
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Absent s... OMIM:619515
Thiamine-Responsive Megaloblastic Anemia Syndrome
Gastroesophageal reflux, Sideroblastic anemia, Cryptorchidism, Thiamine-responsive megaloblastic ... OMIM:249270
Bacterial Toxic-Shock Syndrome
Diarrhea, Abscess, Glomerulonephritis, Recurrent skin infections, Osteomyelitis, Renal insufficie... ORPHA:36234
Immunodeficiency, Common Variable, 3
Abnormal T cell count, Recurrent otitis media, Abnormal B cell count, Recurrent sinusitis, Decrea... OMIM:613493
Diamond-Blackfan Anemia 9
Anemia OMIM:613308
Tufted Angioma
Anemia, Hemangioma of the lip, Thrombocytopenia ORPHA:1063
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome
Bone marrow hypocellularity, Abnormality of the hepatic vasculature, Nodular regenerative hyperpl... ORPHA:210136
Diamond-Blackfan Anemia 16
Anemia OMIM:617408
Immunodeficiency 70
Decreased proportion of CD4-positive helper T cells, Recurrent sinusitis, Colitis, Achalasia, B l... OMIM:618969
Spermatogenic Failure 20
Absent sperm flagella, Short sperm flagella, Male infertility, Coiled sperm flagella OMIM:617593
Myh9-Related Disease
Nephropathy, Nephritis, Giant platelets, Renal insufficiency, Proteinuria, Congenital thrombocyto... ORPHA:182050
Hemangioma-Thrombocytopenia Syndrome
Thrombocytopenia, Microangiopathic hemolytic anemia OMIM:141000
Lymphatic Filariasis
Urethral obstruction, Lymphadenitis, Hypereosinophilia, Abnormal scrotum morphology, Orchitis, He... ORPHA:2035
Letterer-Siwe Disease
Hepatosplenomegaly, Neutropenia, Thrombocytopenia, Anemia, Jaundice, Stomatitis OMIM:246400
Isovaleric Acidemia
Hyperglycinuria, Bone marrow hypocellularity, Vomiting, Pancytopenia, Leukopenia, Thrombocytopeni... OMIM:243500
B-Cell Expansion With Nfkb And T-Cell Anergy
Increased B cell count, Splenomegaly OMIM:616452
Immunodeficiency, Common Variable, 8, With Autoimmunity
Inflammation of the large intestine, Recurrent otitis media, Pancytopenia, Erythema nodosum, Auto... OMIM:614700
Delta-Beta-Thalassemia
Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231237
Acute Promyelocytic Leukemia
Gingival bleeding, Pancytopenia, Leukopenia, Leukocytosis, Gingival overgrowth, Metrorrhagia, Lym... ORPHA:520
Primary Sjögren Syndrome
Arteritis, Xerostomia, Lymphopenia, Chronic hepatitis, Decreased proportion of CD4-positive helpe... ORPHA:289390
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature
Downturned corners of mouth, Hyperechogenic kidneys, Lymphopenia, Leukopenia, Proteinuria, Neutro... OMIM:301110
Immunodeficiency, Common Variable, 13
Pancytopenia, Acute lymphoblastic leukemia, B lymphocytopenia OMIM:616873
Braddock-Carey Syndrome 2
Cleft palate, Wide mouth, Thrombocytopenia, Pierre-Robin sequence OMIM:619981
Immunodeficiency 17
Abnormal B cell morphology, Anoperineal fistula, Eczematoid dermatitis, Decreased proportion of C... OMIM:615607
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Pneumonia, Recurrent pneumonia, Inflammatory abnormality of the skin, Diarrhea, Chronic mucocutan... OMIM:102700
Hereditary Folate Malabsorption
Diarrhea, Gastroesophageal reflux, Pancytopenia, Eosinophilia, Megaloblastic anemia, Thrombocytop... ORPHA:90045
T-Cell Immunodeficiency With Thymic Aplasia
Abnormally low T cell receptor excision circle level, Recurrent pneumonia, Eczematoid dermatitis,... OMIM:242700
Insulin-Resistance Syndrome Type B
Pneumonia, Nephritis, Biliary cirrhosis, Glycosuria, Leukopenia, Skin rash, Polycystic ovaries, E... ORPHA:2298
Immunodeficiency 68
Lymphadenitis, Recurrent skin infections, Abscess, B lymphocytopenia, Septic arthritis, Abnormal ... OMIM:612260
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7
Lymphopenia, Portal hypertension, Cryptorchidism, Thrombocytopenia, Anemia OMIM:620365
Idiopathic Aplastic Anemia
Gingival bleeding, Bone marrow hypocellularity, Pancytopenia, Reticulocytopenia, Thrombocytopenia... ORPHA:88
Fetal Gaucher Disease
Abnormality of the spleen, Pancytopenia, Splenomegaly, Thrombocytopenia, Hepatomegaly, High palate ORPHA:85212
Fanconi Anemia, Complementation Group V
Anemia, Bone marrow hypocellularity, Thrombocytopenia, Neutropenia OMIM:617243
Rhabdoid Tumor
Anemia, Neoplasm of the liver, Lymphadenopathy, Thrombocytopenia ORPHA:69077
Erythrocytosis, Familial, 4
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia OMIM:611783
Immunodeficiency 26 With Or Without Neurologic Abnormalities
Abnormal natural killer cell morphology, Long philtrum, Recurrent aphthous stomatitis, Thin upper... OMIM:615966
Ghosal Hematodiaphyseal Dysplasia
Bone marrow hypocellularity, Leukopenia, Refractory anemia, Thrombocytopenia OMIM:231095
Stt3B-Cdg
Micropenis, Small scrotum, Cryptorchidism, Thrombocytopenia ORPHA:370924
Immunodeficiency, Common Variable, 11
Abnormal T cell count, Inflammation of the large intestine, Mucoid diarrhea, Aphthous ulcer, Croh... OMIM:615767
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Decreased proportion of CD4+CD25+ regulatory T cells, Eczematoid dermatitis, Hepatosplenomegaly, ... OMIM:606367
Spermatogenic Failure 25
Cryptozoospermia, Decreased testicular size, Non-obstructive azoospermia, Spermatocyte maturation... OMIM:617960
X-Linked Agammaglobulinemia
Recurrent pneumonia, Hepatitis, Conjunctivitis, Osteomyelitis, Skin rash, Chronic diarrhea, Abnor... ORPHA:47
Spermatogenic Failure, X-Linked, 3
Reduced sperm motility, Irregularly shaped sperm tail, Short sperm flagella, Oligozoospermia, Abs... OMIM:301059
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Reduced natural killer cell count, Diarrhea, Hypoplasia of the thymus, Impaired lymphocyte transf... OMIM:619313
Stormorken-Sjaastad-Langslet Syndrome
Anemia, Asplenia, Abnormality of thrombocytes ORPHA:3204
Moyamoya Disease With Early-Onset Achalasia
Abnormal platelet aggregation, Thrombocytopenia ORPHA:401945
X-Linked Sideroblastic Anemia
Anemia, Splenomegaly ORPHA:75563
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Congenital shortened small intestine, Pyloric stenosis, Vomiting, Intestinal pseudo-obstruction, ... OMIM:300048
Agammaglobulinemia 6, Autosomal Recessive
Recurrent pneumonia, Diarrhea, Recurrent otitis media, Chronic sinusitis, B lymphocytopenia, Abno... OMIM:612692
Gray Platelet Syndrome
Abnormal number of alpha granules, Impaired thrombin-induced platelet aggregation, Splenomegaly, ... OMIM:139090
Wilson Disease
Hepatitis, Abnormality of the menstrual cycle, Acute hepatitis, Hepatic steatosis, Splenomegaly, ... ORPHA:905
Deafness-Lymphedema-Leukemia Syndrome
Bone marrow hypocellularity, Acute leukemia, Leukocytosis, Splenomegaly, Lymphadenopathy, Thrombo... ORPHA:3226
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Abnormal reticulocyte morphology, Bone marrow hypocellularity, Impaired platelet aggregation, Ell... OMIM:300835
Spermatogenic Failure 54
Abnormal sperm axoneme morphology, Cryptozoospermia, Tapered sperm head, Short sperm flagella, Ol... OMIM:619379
Thrombocytopenia, Paris-Trousseau Type
Thrombocytopenia, Pyloric stenosis OMIM:188025
Congenital Disorder Of Glycosylation, Type Ix
Micropenis, Small scrotum, Cryptorchidism, Thrombocytopenia OMIM:615597
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Herpes simplex encephalitis, Recurrent otitis media, Hepatosplenomegaly, Lymphadenopathy, Increas... OMIM:618982
Red Cell Phospholipid Defect With Hemolysis
Splenomegaly, Reticulocytosis, Intermittent jaundice OMIM:179700
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Decreased proportion of CD4+CD25+ regulatory T cells, Lymphopenia, Follicular hyperplasia, Decrea... OMIM:619846
Spermatogenic Failure 43
Absent sperm axoneme central pair complex, Absent sperm flagella, Reduced sperm motility, Male in... OMIM:618751
Spermatogenic Failure 19
Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... OMIM:617592
Spermatogenic Failure 82
Reduced progressive sperm motility, Short sperm flagella, Absent sperm flagella, Male infertility... OMIM:620353
Spermatogenic Failure 49
Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... OMIM:619144
Spermatogenic Failure 45
Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... OMIM:619094
Nephrotic Syndrome, Type 16
Proteinuria, Minimal change glomerulonephritis, Nephrotic syndrome, Hematuria OMIM:617783
Erythrocytosis, Familial, 5
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia OMIM:617907
Relapsing Fever
Acute kidney injury, Abnormality of the urinary system, Diarrhea, Vomiting, Leukopenia, Leukocyto... ORPHA:91547
Autoimmune Hepatitis
Inflammation of the large intestine, Gastrointestinal hemorrhage, Viral hepatitis, Splenomegaly, ... ORPHA:2137
Cheilitis Glandularis
Abnormal salivary gland morphology, Thick lower lip vermilion ORPHA:1221
Immunodeficiency 92
Pneumonia, Osteomyelitis, Thrombocytosis, Leukocytosis, Esophagitis, Sclerosing cholangitis, Lymp... OMIM:619652
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Carious teeth, Exocrine pancreatic insufficiency, Splenomegaly, Anemia of inadequate production, ... OMIM:612714
Microcephaly-Glomerulonephritis-Marfanoid Habitus Syndrome
Chronic kidney disease, High palate, Glomerulonephritis ORPHA:2172
Galloway-Mowat Syndrome 2, X-Linked
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Stage 5 chronic kidney dis... OMIM:301006
Igg4-Related Dacryoadenitis And Sialadenitis
Enlarged lacrimal glands, Xerostomia, Abnormality of the submandibular glands, Enlargement of par... ORPHA:79078
Immunodeficiency, Common Variable, 12, With Autoimmunity
Atrophic gastritis, Recurrent pneumonia, Autoimmune hemolytic anemia, Recurrent sinusitis, Thromb... OMIM:616576
Nephrotic Syndrome, Type 11
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Cleft lip, IgA deposition ... OMIM:616730
Dehydrated Hereditary Stomatocytosis 2
Increased mean corpuscular volume, Increased mean corpuscular hemoglobin concentration, Thrombocy... OMIM:616689
Agammaglobulinemia 2, Autosomal Recessive
Recurrent otitis media, Recurrent pneumonia, Absent circulating B cells, Abnormal T cell morphology OMIM:613500
Congenital Rubella Syndrome
Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia, Jaundice ORPHA:290
Griscelli Syndrome
Bone marrow hypocellularity, Hepatitis, Ascites, Leukopenia, Splenomegaly, Lymphadenopathy, Throm... ORPHA:381
Schnitzler Syndrome
Leukocytosis, Splenomegaly, Hepatomegaly, Lymphadenopathy, Anemia ORPHA:37748
Reticular Dysgenesis
Diarrhea, Aplasia/Hypoplasia of the thymus, Leukopenia, Anemia, Abnormality of neutrophils ORPHA:33355
Mitochondrial Myopathy And Sideroblastic Anemia
Anemia, High palate, Long philtrum ORPHA:2598
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8
Nodular regenerative hyperplasia of liver, Increased mean corpuscular volume, Portal hypertension... OMIM:620367
Fetal Cytomegalovirus Syndrome
Hepatitis, Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia, Jaundice ORPHA:294
Immunodeficiency By Defective Expression Of Mhc Class Ii
Abnormal CD4:CD8 ratio, Diarrhea, Chronic mucocutaneous candidiasis, Protracted diarrhea, Pancyto... ORPHA:572
Lysinuric Protein Intolerance
Diarrhea, Hemophagocytosis, Hepatosplenomegaly, Cirrhosis, Glomerulonephritis, Hepatomegaly, Tubu... ORPHA:470
Immunodeficiency 36 With Lymphoproliferation
Lymphopenia, Splenomegaly, Chronic lymphatic leukemia, Increased proportion of transitional B cel... OMIM:616005
Shwachman-Diamond Syndrome 2
Normocytic anemia, Diarrhea, Exocrine pancreatic insufficiency, Hyperechogenic pancreas, Hepatome... OMIM:617941
Ebola Hemorrhagic Fever
Gastrointestinal hemorrhage, Diarrhea, Vomiting, Hepatitis, Lymphopenia, Leukopenia, Dysphagia, T... ORPHA:319218
Bleeding Disorder, Platelet-Type, 21
Impaired ADP-induced platelet aggregation, Thrombocytopenia, Impaired platelet aggregation, Menor... OMIM:617443
Mirage Syndrome
Hypospadias, Gastroesophageal reflux, Microphallus, Lymphopenia, Leukopenia, Decreased testicular... OMIM:617053
Thiamine-Responsive Megaloblastic Anemia Syndrome
Diarrhea, Megaloblastic anemia, Thrombocytopenia ORPHA:49827
Congenital Disorder Of Glycosylation, Type Ih
Protein-losing enteropathy, Vomiting, Diarrhea, Long philtrum, Cholestasis, Ascites, Cryptorchidi... OMIM:608104
Autoimmune Lymphoproliferative Syndrome
Chronic noninfectious lymphadenopathy, Autoimmune hemolytic anemia, Splenomegaly, Follicular hype... OMIM:601859
Pediatric Systemic Lupus Erythematosus
Discoid lupus rash, Nephritis, Abnormality of the urinary system, Diarrhea, Vomiting, Microangiop... ORPHA:93552
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Increased mean corpuscular volume, Pancytopenia, Megaloblastic anemia, Thrombocytopenia, Hepatome... OMIM:613839
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia
Delayed eruption of teeth, Tooth agenesis, Abnormal dental enamel morphology, Anemia, Short philtrum ORPHA:2325
Tafro Syndrome
Ascites, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Hepatomegaly, Lymphadenopathy, Thrombocy... ORPHA:457077
Neonatal Lupus Erythematosus
Aplastic anemia, Pancytopenia, Abnormality of the liver, Splenomegaly, Hepatomegaly, Neutropenia,... ORPHA:398124
Felty Syndrome
Bone marrow hypocellularity, Recurrent pneumonia, Recurrent urinary tract infections, Abnormal ly... ORPHA:47612
Spermatogenic Failure 57
Spermatogenesis maturation arrest, Decreased testicular size, Non-obstructive azoospermia, Male i... OMIM:619528
Glut1 Deficiency Syndrome 2
Splenomegaly, Hemolytic anemia, Reticulocytosis OMIM:612126
Perlman Syndrome
High, narrow palate, Abnormal pancreas morphology, Abnormal upper lip morphology, Open mouth, Cry... ORPHA:2849
Spermatogenic Failure 42
Microcephalic sperm head, Tapered sperm head, Short sperm flagella, Absent sperm flagella, Reduce... OMIM:618745
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Cholelithiasis, Splenomegaly, Reticulocytosis, Cholecystitis, Nonspherocytic h... OMIM:235700
Slc35A1-Cdg
Thrombocytopenia, Neutropenia, Giant platelets, Abnormal platelet granules ORPHA:238459
Spermatogenic Failure 30
Cryptozoospermia, Azoospermia, Cryptorchidism, Spermatogenesis maturation arrest, Male infertility OMIM:618110
Proteasome-Associated Autoinflammatory Syndrome 2
Decreased proportion of memory B cells, Neutrophilic infiltration of the skin, Skin rash, Lymphad... OMIM:618048
Boutonneuse Fever
Diarrhea, Cervical lymphadenopathy, Leukopenia, Renal insufficiency, Skin rash, Lymphadenopathy, ... ORPHA:83313
Spermatogenic Failure 39
Tapered sperm head, Short sperm flagella, Oligozoospermia, Reduced sperm motility, Absent sperm f... OMIM:618643
Spermatogenic Failure 40
Immotile sperm, Short sperm flagella, Absent sperm flagella, Oligozoospermia, Male infertility, C... OMIM:618664
Erythrocytosis, Familial, 3
Increased circulating hemoglobin concentration, Increased hematocrit, Increased red blood cell mass OMIM:609820
Spermatogenic Failure 80
Reduced progressive sperm motility, Short sperm flagella, Absent sperm flagella, Oligozoospermia,... OMIM:620222
Spermatogenic Failure 76
Irregularly shaped sperm tail, Short sperm flagella, Oligozoospermia, Reduced sperm motility, Abs... OMIM:620084
Wolman Disease
Ascites, Splenomegaly, Hepatomegaly, Anemia, Bone-marrow foam cells, Esophageal varix, Steatorrhea ORPHA:75233
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Decreased proportion of memory B cells, Diarrhea, Urinary retention, Chronic mucocutaneous candid... ORPHA:79124
Dehydrated Hereditary Stomatocytosis
Cholelithiasis, Increased mean corpuscular volume, Polycythemia, Increased mean corpuscular hemog... ORPHA:3202
Thrombocythemia 1
Impaired ADP-induced platelet aggregation, Splenomegaly, Thrombocytosis, Impaired collagen-induce... OMIM:187950
Bone Marrow Failure Syndrome 3
Bone marrow hypocellularity, Aplastic anemia, Increased mean corpuscular volume, Downturned corne... OMIM:617052
Hereditary Amyloidosis With Primary Renal Involvement
Nephropathy, Diarrhea, Abnormal urinary electrolyte concentration, Abnormal lymph node morphology... ORPHA:85450
Anemia, Hypochromic Microcytic, With Iron Overload 1
Erythroid hyperplasia, Elevated hepatic iron concentration, Hypochromia, Anemia, Decreased mean c... OMIM:206100
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Long philtrum, Gingival overgrowth, Chronic constipation, Proteinuria, Smooth philtrum, Glomerula... OMIM:619428
Salivary Gland Adenoma, Pleomorphic
Salivary gland neoplasm OMIM:181030
Hydrops Fetalis, Nonimmune
Anemia OMIM:236750
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Acute pancreatitis, Recurrent tonsillitis, Granuloma, Lymphadenitis, Anal fissure, Lymphopenia, H... OMIM:618935
Anemia, Congenital Dyserythropoietic, Type Iv
Hypospadias, Increased RBC distribution width, Persistence of hemoglobin F, Hepatosplenomegaly, R... OMIM:613673
Acetophenetidin Sensitivity
Methemoglobinemia, Hemolytic anemia OMIM:200300
Hemochromatosis, Type 4
Hepatic steatosis, Hepatomegaly, Cirrhosis, Anemia, Impotence OMIM:606069
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Peptic ulcer, Diarrhea, Chronic myelomonocytic leukemia, Leukocytosis, Splenom... ORPHA:98849
Pelger-Huet Anomaly
Abnormality of the dentition, Giant platelets, Eczematoid dermatitis, Recurrent otitis media, Gin... OMIM:169400
Hermansky-Pudlak Syndrome 9
Leukopenia, Recurrent skin infections, Abnormal platelet aggregation, Thrombocytopenia OMIM:614171
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Bone marrow hypocellularity, Leukopenia, Acute myeloid leukemia, Monocytosis, Refractory anemia OMIM:616871
Bone Marrow Failure Syndrome 6
Bone marrow hypocellularity, Increased mean corpuscular volume, Persistence of hemoglobin F, Lymp... OMIM:618849
Spermatogenic Failure 58
Irregularly shaped sperm tail, Reduced progressive sperm motility, Immotile sperm, Short sperm fl... OMIM:619585
Immunodeficiency With Hyper-Igm, Type 1
Diarrhea, Hepatitis, Absence of lymph node germinal center, Chronic hepatitis, Splenomegaly, Oral... OMIM:308230
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type
Anemia OMIM:618728
Prolidase Deficiency
Splenomegaly, Prolonged neonatal jaundice, Hepatomegaly, Thrombocytopenia, Anemia, High palate OMIM:170100
Nephrotic Syndrome, Type 15
Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Steroid-resistant... OMIM:617609
3-Methylglutaconic Aciduria Type 4
Thrombocytopenia ORPHA:67048
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome
Abnormal salivary gland morphology ORPHA:3225
Rosaï-Dorfman Disease
Anemia, Lymphadenopathy ORPHA:158014
Blue Rubber Bleb Nevus
Intestinal bleeding, Volvulus, Abnormality of the liver, Iron deficiency anemia, Thrombocytopenia... OMIM:112200
Coach Syndrome 3
Portal fibrosis, Nephronophthisis, Stage 5 chronic kidney disease, Renal insufficiency, Renal int... OMIM:619113
Intermediate Generalized Junctional Epidermolysis Bullosa
Anemia, Enamel hypoplasia, Oral mucosal blisters ORPHA:79402
Glutamate-Cysteine Ligase Deficiency
Jaundice, Hepatosplenomegaly, Hemolytic anemia, Reticulocytosis ORPHA:33574
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Recurrent pneumonia, Vomiting, Eczematoid dermatitis, Hypersegmentation of neutrophil nuclei, Lym... OMIM:617780
Hyperinsulinemic Hypoglycemia, Familial, 2
Nesidioblastosis, Pancreatic islet-cell hyperplasia OMIM:601820
Macrophage Activation Syndrome
Hemophagocytosis, Hepatitis, Splenomegaly, Hepatomegaly, Lymphadenopathy, Neutropenia, Thrombocyt... ORPHA:158061
Galloway-Mowat Syndrome 7
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Cleft lip, IgA deposition ... OMIM:618348
Potocki-Shaffer Syndrome
Anemia, Short philtrum, Micropenis, Downturned corners of mouth ORPHA:52022
Immunodeficiency 7
Diarrhea, Hypereosinophilia, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Neutrope... OMIM:615387
Spermatogenic Failure 63
Decreased testicular size, Reduced progressive sperm motility, Male infertility, Oligozoospermia OMIM:619689
Dengue Fever
Gingival bleeding, Gastrointestinal hemorrhage, Diarrhea, Ascites, Leukopenia, Thrombocytopenia, ... ORPHA:99828
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Diarrhea, Vomiting, Methylmalonic aciduria, Leukopenia, Stage 5 chronic kidney disease, Pancreati... OMIM:251000
Sitosterolemia 1
Stomatocytosis, Giant platelets, Reticulocytosis, Splenomegaly, Episodic hemolytic anemia, Thromb... OMIM:210250
Agammaglobulinemia 9, Autosomal Recessive
Seborrheic dermatitis, Absent circulating B cells, Eczematoid dermatitis, Thrombocytopenia OMIM:619693
Spermatogenic Failure 83
Altered location of the longitudinal column in the fibrous sheath, Reduced progressive sperm moti... OMIM:620354
Erythrocytosis, Familial, 7
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia OMIM:617981
Erythrocytosis, Familial, 6
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia OMIM:617980
Spermatogenic Failure 50
Spermatogenesis maturation arrest, Decreased testicular size, Azoospermia, Male infertility OMIM:619145
Immune Thrombocytopenia
Gingival bleeding, Abnormal vaginal bleeding, Gastrointestinal hemorrhage, Thrombocytopenia ORPHA:3002
Systemic Lupus Erythematosus
Discoid lupus rash, Leukopenia, Malar rash, Oral ulcer, Hematuria, Proteinuria, Abnormal pigmenta... ORPHA:536
Propionic Acidemia
Vomiting, Pancytopenia, Hepatomegaly, Constipation, Pancreatitis, Thrombocytopenia, Neutropenia, ... OMIM:606054
Stormorken Syndrome
Howell-Jolly bodies, Thrombocytopenia, Anemia, Asplenia, Short philtrum, Hypoplastic spleen OMIM:185070
Aregenerative Anemia
Bone marrow hypocellularity, Pancytopenia, Decreased proportion of CD4-positive helper T cells, A... ORPHA:101096
Pearson Marrow-Pancreas Syndrome
Sideroblastic anemia, Pancytopenia, Neutropenia, Hepatomegaly, 3-Methylglutaric aciduria, Villous... OMIM:557000
C3 Glomerulopathy
Chronic kidney disease, Acute kidney injury, Glomerular extracapillary hypercellularity, Stage 5 ... ORPHA:329918
Gaucher Disease, Type I
Pancytopenia, Hypersplenism, Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia OMIM:230800
Overhydrated Hereditary Stomatocytosis
Abnormal mean corpuscular volume, Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis... ORPHA:3203
Harderoporphyria
Vomiting, Splenomegaly, Reticulocytosis, Hepatomegaly, Prolonged neonatal jaundice, Hemolytic anemia OMIM:618892
Beemer-Ertbruggen Syndrome
Ambiguous genitalia, Deep philtrum, Cryptorchidism, Thrombocytopenia ORPHA:1237
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 1
Bone marrow hypocellularity, Gastroesophageal reflux, Aplastic anemia, Pancytopenia, Cirrhosis, M... OMIM:614742
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Diarrhea, Decreased CD4:CD8 ratio, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, He... OMIM:618495
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency
Bone marrow hypocellularity, Thrombocytopenia, Neutropenia, Anemia, High palate OMIM:614520
Good Syndrome
Thymoma, Mediastinal lymphadenopathy, Diarrhea, Aplasia/Hypoplasia of the thymus, Recurrent urina... ORPHA:169105
Agammaglobulinemia 10, Autosomal Dominant
Transient neutropenia, Absent circulating B cells, Recurrent sinusitis OMIM:619707
Kaposiform Lymphangiomatosis
Hepatosplenomegaly, Splenomegaly, Metrorrhagia, Lymphangioma, Abnormality of the lymphatic system... ORPHA:464329
Spermatogenic Failure 47
Immotile sperm, Short sperm flagella, Absent sperm flagella, Oligozoospermia, Male infertility OMIM:619102
Thrombocytopenia 2
Abnormal platelet shape, Abnormal platelet volume, Leukocytosis, Thrombocytopenia OMIM:188000
Blau Syndrome
Nephropathy, Posterior uveitis, Xerostomia, Keratitis, Abnormality of the liver, Stage 5 chronic ... ORPHA:90340
Brooke-Spiegler Syndrome
Abnormality of the submandibular glands, Abnormality of the sublingual glands, Salivary gland neo... ORPHA:79493
Combined Immunodeficiency Due To Crac Channel Dysfunction