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Gene: Mfap2 MGI:99559

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Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
microfibrillar-associated protein 2
Synonyms:
Magp

Order Alleles

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

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 Mfap2 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.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Mfap2 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Pseudo-Von Willebrand Disease
Prolonged bleeding time, Intermittent thrombocytopenia OMIM:177820
Platelet Glycoprotein Iv Deficiency
Abnormal bleeding, Prolonged bleeding time, Giant platelets, Thrombocytopenia OMIM:608404
Von Willebrand Disease, X-Linked Form
Abnormal bleeding, Prolonged bleeding time OMIM:314560
Athrombia, Essential
Abnormal bleeding, Prolonged bleeding time, Impaired platelet adhesion, Impaired platelet aggrega... OMIM:209050
X-Linked Severe Congenital Neutropenia
Monocytopenia, Neutropenia ORPHA:86788
Tatsumi Factor Deficiency
Abnormal bleeding, Prolonged bleeding time OMIM:272650
Glanzmann Thrombasthenia 2
Abnormal bleeding, Prolonged bleeding time, Epistaxis, Decreased platelet glycoprotein IIb-IIIa, ... OMIM:619267
Bernard-Soulier Syndrome
Abnormal bleeding, Prolonged bleeding time, Gastrointestinal hemorrhage, Epistaxis, Prolonged ble... OMIM:231200
Thrombocytopenia 7
Reduced platelet alpha granules, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Pos... OMIM:619130
Bleeding Disorder, Platelet-Type, 18
Prolonged bleeding time, Epistaxis, Impaired ADP-induced platelet aggregation, Menorrhagia, Bruis... OMIM:615888
Bleeding Disorder, Platelet-Type, 11
Prolonged bleeding time, Epistaxis, Abnormal platelet count, Menorrhagia, Impaired collagen-induc... OMIM:614201
Immune Thrombocytopenia
Abnormal bleeding, Thrombocytopenia OMIM:188030
Histiocytosis, Progressive Mucinous
Mucinous histiocytosis OMIM:142630
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal bleeding, Abnormal hemoglobin, Splenomegaly, Anemia, Abnormal platelet function, Thrombo... ORPHA:231393
Platelet Disorder, Undefined
Abnormal bleeding, Prolonged bleeding time, Impaired platelet aggregation, Thrombocytopenia OMIM:173420
Neutropenia, Severe Congenital, X-Linked
Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia OMIM:300299
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, B lymphocytopenia, Neutropenia OMIM:613107
Bleeding Disorder, Platelet-Type, 9
Bruising susceptibility, Thrombocytopenia OMIM:614200
Glanzmann Thrombasthenia 1
Gastrointestinal hemorrhage, Prolonged bleeding time, Impaired epinephrine-induced platelet aggre... OMIM:273800
Platelet Signal Processing Defect
Abnormal bleeding, Epistaxis, Impaired ADP-induced platelet aggregation, Impaired collagen-induce... OMIM:173590
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia
Macrothrombocytopenia, Post-partum hemorrhage, Menorrhagia, Impaired platelet aggregation, Thromb... OMIM:124900
Neutropenia-Monocytopenia-Deafness Syndrome
Abnormal macrophage morphology, Abnormality of neutrophils ORPHA:2690
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Abnormal bleeding, Prolonged bleeding time, Leukocyte inclusion bodies, Epistaxis, Impaired ADP-i... OMIM:155100
Thrombocytopenia With Beta-Thalassemia, X-Linked
Prolonged bleeding time, Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Epi... OMIM:314050
Thrombocytopenia 2
Leukocytosis, Bruising susceptibility, Thrombocytopenia OMIM:188000
Bleeding Disorder, Platelet-Type, 16
Abnormal bleeding, Thrombocytopenia, Giant platelets, Macrothrombocytopenia, Platelet anisocytosi... OMIM:187800
Glanzmann Thrombasthenia
Gastrointestinal hemorrhage, Prolonged bleeding time, Spontaneous, recurrent epistaxis, Purpura, ... ORPHA:849
Bleeding Disorder, Platelet-Type, 24
Abnormal bleeding, Increased mean platelet volume, Thrombocytopenia, Impaired ADP-induced platele... OMIM:619271
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant
Macrothrombocytopenia, Impaired platelet aggregation OMIM:613112
Von Willebrand Disease, Type 3
Abnormal bleeding, Prolonged bleeding time, Epistaxis, Prolonged bleeding after surgery, Menorrha... OMIM:277480
Bleeding Disorder, Platelet-Type, 14
Prolonged bleeding time, Ecchymosis, Bruising susceptibility, Epistaxis OMIM:614158
Immunodeficiency 11A
Monocytopenia, Decreased proportion of CD4+CD25+ regulatory T cells OMIM:615206
Storage Pool Platelet Disease
Abnormal bleeding, Prolonged bleeding time, Decreased mean platelet volume, Acute leukemia OMIM:185050
Bleeding Disorder, Platelet-Type, 19
Abnormal bleeding, Epistaxis, Thrombocytopenia, Macrothrombocytopenia, Spontaneous hematomas, Men... OMIM:616176
Bleeding Disorder, Platelet-Type, 17
Abnormal bleeding, Prolonged bleeding time, Gastrointestinal hemorrhage, Increased RBC distributi... OMIM:187900
Slc35A1-Cdg
Abnormal bleeding, Prolonged bleeding time, Subcutaneous hemorrhage, Giant platelets, Neutropenia... ORPHA:238459
Thrombocytopenia, Paris-Trousseau Type
Abnormal bleeding, Prolonged bleeding time, Thrombocytopenia OMIM:188025
Gray Platelet Syndrome
Abnormal bleeding, Prolonged bleeding time, Impaired thrombin-induced platelet aggregation, Epist... OMIM:139090
Factor V Deficiency
Abnormal bleeding, Prolonged bleeding time, Epistaxis, Prolonged prothrombin time, Menorrhagia, B... OMIM:227400
Platelet Disorder, Familial, With Associated Myeloid Malignancy
Acute myeloid leukemia, Prolonged bleeding time, Epistaxis, Acute monocytic leukemia, Bruising su... OMIM:601399
Ras-Associated Autoimmune Leukoproliferative Disorder
Hemolytic anemia, Pancytopenia, Hepatomegaly, Autoimmune thrombocytopenia, Follicular hyperplasia... OMIM:614470
Immunodeficiency 21
Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, Lymphopenia, Re... OMIM:614172
Multiple Symmetric Lipomatosis
Hepatomegaly, Joint stiffness, Insulin resistance, Multiple lipomas, Abnormal adipose tissue morp... ORPHA:2398
Diamond-Blackfan Anemia 18
Erythroid hypoplasia, Steroid-responsive anemia, Neutropenia OMIM:618310
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Neutropenia, Thr... OMIM:202700
Giant platelet syndrome with thrombocytopenia
Gastrointestinal hemorrhage, Giant platelets, Bruising susceptibility, Prolonged bleeding after d... OMIM:137560
Acquired Partial Lipodystrophy
Lipoatrophy, Insulin resistance, Hepatic steatosis, Lymphocytosis ORPHA:79087
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant
Macrothrombocytopenia OMIM:619840
Bleeding Disorder, Platelet-Type, 20
Bruising susceptibility, Menorrhagia, Epistaxis, Thrombocytopenia OMIM:616913
Von Willebrand Disease, Type 2
Bruising susceptibility, Menorrhagia, Epistaxis, Thrombocytopenia OMIM:613554
Essential Fructosuria
Abnormal erythrocyte enzyme level, Hyperglycemia ORPHA:2056
Adult Idiopathic Neutropenia
Abnormal neutrophil count, Monocytosis, Neutropenia, Monocytopenia, Lymphopenia ORPHA:2688
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Failure to thrive, Neutropenia OMIM:616022
Bleeding Disorder, Platelet-Type, 15
Thrombocytopenia, Platelet anisocytosis, Epistaxis, Increased mean platelet volume OMIM:615193
Immunodeficiency 15B
Monocytosis, Failure to thrive, Reduced natural killer cell count OMIM:615592
Prothrombin Deficiency, Congenital
Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Prolonged prothrombin time, Meno... OMIM:613679
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Acute myeloid leukemia, Refractory anemia, Leukopenia, Monocytosis, Bone marrow hypocellularity OMIM:616871
Undritz Anomaly
Hypersegmentation of neutrophil nuclei OMIM:191500
Benign Cephalic Histiocytosis
Histiocytosis ORPHA:157997
Neutropenia, Severe Congenital, 7, Autosomal Recessive
Neutropenia OMIM:617014
Immunodeficiency 98 With Autoinflammation, X-Linked
Myelofibrosis, Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, B lympho... OMIM:301078
Amegakaryocytic Thrombocytopenia, Congenital, 1
Amegakaryocytic thrombocytopenia, Pancytopenia, Thrombocytopenia OMIM:604498
Quebec Platelet Disorder
Epistaxis, Menorrhagia, Bruising susceptibility, Joint hemorrhage, Thrombocytopenia, Impaired epi... OMIM:601709
Myh9-Related Disease
Prolonged bleeding time, Spontaneous, recurrent epistaxis, Increased mean platelet volume, Giant ... ORPHA:182050
Cyclic Neutropenia
Cyclic neutropenia OMIM:162800
Immunodeficiency 50
Lymphopenia, Neutropenia OMIM:300988
Autosomal Dominant Severe Congenital Neutropenia
Acute myeloid leukemia, Osteopenia, Aplastic anemia, Eosinophilia, Cellulitis, Acute lymphoblasti... ORPHA:486
Lipodystrophy, Familial Partial, Type 1
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Acute pancreatitis, Lipodystrophy, In... OMIM:608600
Hermansky-Pudlak Syndrome 7
Prolonged bleeding time, Epistaxis, Post-partum hemorrhage, Menorrhagia, Impaired platelet aggreg... OMIM:614076
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropen... OMIM:615285
Whim Syndrome 2
Chronic neutropenia OMIM:619407
Gray Platelet Syndrome
Abnormal bleeding, Abnormality of thrombocytes, Epistaxis, Splenomegaly, Bruising susceptibility,... ORPHA:721
Immunodeficiency 14B, Autosomal Recessive
Neutrophilia, Leukocytosis, Monocytosis, B lymphocytopenia, Thrombocytosis OMIM:619281
Thrombocythemia 1
Splenomegaly, Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggre... OMIM:187950
Insulin Autoimmune Syndrome
Nonketotic hypoglycemia, Arthralgia/arthritis, Reactive hypoglycemia, Insulin-resistant diabetes ... ORPHA:411593
Trimethylaminuria
Splenomegaly, Anemia, Neutropenia OMIM:602079
Lipodystrophy, Congenital Generalized, Type 3
Reduced subcutaneous adipose tissue, Hepatomegaly, Diabetes mellitus, Lipodystrophy, Splenomegaly... OMIM:612526
Transient Neonatal Diabetes Mellitus
Small for gestational age, Maternal diabetes, Maturity-onset diabetes of the young, Transient neo... ORPHA:99886
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Neutropenia ORPHA:90023
Neutropenia, Chronic Familial
Neutropenia OMIM:162700
Immunodeficiency 53
Impaired lymphocyte transformation with phytohemagglutinin, Failure to thrive, Neutrophilia OMIM:617585
Immunodeficiency 105
Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, Absence of lymph node g... OMIM:619924
Roch-Leri Mesosomatous Lipomatosis
Thrombocytopenia, Purpura ORPHA:529
Immunodeficiency 32B
Neutrophilia, Eosinophilia, Splenomegaly, Anemia, Impaired oxidative burst, Monocytopenia, Thromb... OMIM:226990
Papular Xanthoma
Histiocytosis ORPHA:158008
Bleeding Disorder, Platelet-Type, 22
Impaired platelet aggregation, Subcutaneous hemorrhage, Excessive bleeding from superficial cuts OMIM:618462
Agammaglobulinemia 3, Autosomal Recessive
Failure to thrive, Neutropenia, Absent circulating B cells, Abnormal T cell morphology OMIM:613501
Thrombocytopenia 4
Abnormal platelet volume, Thrombocytopenia OMIM:612004
Type 2 Diabetes Mellitus
Increased waist to hip ratio, Insulin resistance, Type II diabetes mellitus OMIM:125853
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Neutropenia ORPHA:70592
Agammaglobulinemia 10, Autosomal Dominant
Type I diabetes mellitus, Transient neutropenia, Absent circulating B cells OMIM:619707
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hepatomegaly, Splenomegaly, Jaundice, Lymphadenopathy, Anemia, Hemophagocytosis, Neutropenia, Thr... OMIM:603552
Von Willebrand Disease, Type 1
Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Prolonged bleeding after surgery... OMIM:193400
Maturity-Onset Diabetes Of The Young, Type 10
Diabetic ketoacidosis, Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young OMIM:613370
Short Stature Due To Primary Acid-Labile Subunit Deficiency
Truncal obesity, Insulin resistance ORPHA:140941
Hemophilia B
Prolonged bleeding time, Spontaneous, recurrent epistaxis, Prolonged bleeding after surgery, Join... ORPHA:98879
Bleeding Disorder, Platelet-Type, 21
Abnormal bleeding, Increased mean platelet volume, Impaired ADP-induced platelet aggregation, Men... OMIM:617443
Diabetes Mellitus, Transient Neonatal, 1
Severe failure to thrive, Transient neonatal diabetes mellitus, Hyperglycemia OMIM:601410
Immunodeficiency 97 With Autoinflammation
Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cells, Eosinophilia, ... OMIM:619802
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Hemolytic anemia, Petechiae, Epistaxis, Increased mean platelet volume, Splenomegaly, Thrombocyto... OMIM:153670
Mu-Heavy Chain Disease
Hepatomegaly, Abnormal B cell count, Splenomegaly, Osteoporosis, Osteolysis, Lymphadenopathy, Wei... ORPHA:100024
Mody
Elevated hemoglobin A1c, Large for gestational age, Overweight, Transient neonatal diabetes melli... ORPHA:552
Diabetes Mellitus, Permanent Neonatal, 4
Small for gestational age, Elevated hemoglobin A1c, Diabetic ketoacidosis, Type I diabetes mellit... OMIM:618858
Maturity-Onset Diabetes Of The Young, Type 13
Diabetes mellitus, Elevated hemoglobin A1c, Maturity-onset diabetes of the young, Maternal diabet... OMIM:616329
Lipodystrophy, Familial Partial, Type 3
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Lipodystrophy,... OMIM:604367
Hermansky-Pudlak Syndrome 5
Prolonged bleeding time, Absent platelet dense granules, Epistaxis, Impaired ADP-induced platelet... OMIM:614074
Neutrophilia, Hereditary
Splenomegaly, Neutrophilia OMIM:162830
B-Cell Expansion With Nfkb And T-Cell Anergy
Splenomegaly, Increased B cell count OMIM:616452
Maturity-Onset Diabetes Of The Young, Type 3
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young OMIM:600496
Hyperinsulinism Due To Insr Deficiency
Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Recurrent hypoglycemia, Hyperinsuline... ORPHA:263458
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Pancytopenia, Impaired neutrophil chemotaxis, Neutropenia, Hepatosplenomegaly, Leukopenia, T lymp... OMIM:618986
Immunodeficiency 91 And Hyperinflammation
Hepatomegaly, Neutrophilia, Hepatosplenomegaly, Lymphadenopathy, Monocytosis, Hemophagocytosis, F... OMIM:619644
Bone Marrow Failure Syndrome 6
Osteopenia, Persistence of hemoglobin F, Increased mean corpuscular volume, Bone marrow hypocellu... OMIM:618849
Folate Malabsorption, Hereditary
Folate-responsive megaloblastic anemia, Leukopenia, Neutropenia, Failure to thrive, Thrombocytopenia OMIM:229050
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Hepatomegaly, Anemia of inadequate produ... ORPHA:75564
Diabetes Mellitus, Permanent Neonatal, 1
Diabetes mellitus, Small for gestational age, Elevated hemoglobin A1c, Type I diabetes mellitus, ... OMIM:606176
Beemer Lethal Malformation Syndrome
Thrombocytopenia OMIM:209970
Fanconi Anemia, Complementation Group G
Thrombocytopenia, Leukemia, Anemia, Neutropenia OMIM:614082
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Hepatomegaly, Autoimmune hemoly... OMIM:615559
Diabetes Mellitus, Permanent Neonatal, 2
Type I diabetes mellitus, Hyperglycemia, Flexion contracture OMIM:618856
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Increased proportion of memory T cells, Increased B cell count, Lymphadenopathy, Hepatosplenomegaly OMIM:618982
Aggressive Systemic Mastocytosis
Pancytopenia, Portal hypertension, Hypersplenism, Thrombocytopenia, Leukocytosis, Osteoporosis, O... ORPHA:98850
Specific Granule Deficiency 2
Osteopenia, Absent neutrophil specific granules, Anemia, Neutropenia, Failure to thrive, Thromboc... OMIM:617475
Moyamoya Disease With Early-Onset Achalasia
Abnormal platelet aggregation, Thrombocytopenia ORPHA:401945
Neutropenia, Lethal Congenital, With Eosinophilia
Eosinophilia, Neutropenia OMIM:257100
Thrombocytopenia 5
Petechiae, Epistaxis, Thrombocytopenia, B Acute Lymphoblastic Leukemia, Increased mean corpuscula... OMIM:616216
Blue Rubber Bleb Nevus
Prolonged bleeding time, Intestinal bleeding, Microcytic anemia ORPHA:1059
Glycogen Storage Disease 0, Liver
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia OMIM:240600
Acute Myelomonocytic Leukemia
Abnormal bleeding, Eosinophilia, Leukocytosis, Anemia, Thrombocytopenia ORPHA:517
Immune Thrombocytopenia
Gastrointestinal hemorrhage, Epistaxis, Cerebral hemorrhage, Thrombocytopenia, Gingival bleeding,... ORPHA:3002
Wolfram Syndrome, Mitochondrial Form
Sideroblastic anemia, Diabetes mellitus, Megaloblastic anemia, Neutropenia, Thrombocytopenia OMIM:598500
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Neutropenia OMIM:610798
Congenital Factor Ii Deficiency
Abnormal bleeding, Epistaxis, Joint hemorrhage, Prolonged bleeding following procedure, Post-part... ORPHA:325
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Amegakaryocytic thrombocytopenia ORPHA:71289
Familial Partial Lipodystrophy, Köbberling Type
Hepatomegaly, Diabetes mellitus, Lipoatrophy, Insulin resistance, Hyperinsulinemia, Hepatic steat... ORPHA:79084
Alpha-Thalassemia-Myelodysplastic Syndrome
Abnormal bleeding, Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, Bruising suscept... ORPHA:231401
Glutathione Synthetase Deficiency
Hemolytic anemia, Neutropenia OMIM:266130
Immunodeficiency 46
Failure to thrive, Neutropenia, Anemia, Intermittent thrombocytopenia OMIM:616740
Aplasia Cutis Congenita
Prolonged bleeding time ORPHA:1114
Refractory Anemia
Normocytic anemia, Macrocytic anemia, Anemia of inadequate production, Erythroid hypoplasia, Norm... ORPHA:98826
Pontocerebellar Hypoplasia, Type 15
Thrombocytopenia, Chronic neutropenia, Anemia OMIM:619302
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome
Increased mean platelet volume, Enamel hypomineralization, Iron deficiency anemia, Neutropenia, T... ORPHA:494444
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Neutropenia, Lymphadenopathy, B lymphocytopenia, I... OMIM:150550
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Bone marrow hypo... OMIM:619041
Diabetes Mellitus, Transient Neonatal, 3
Transient neonatal diabetes mellitus, Hyperglycemia, Elevated hemoglobin A1c, Maternal diabetes OMIM:610582
Pontocerebellar Hypoplasia, Type 14
Chronic neutropenia, Thrombocytopenia OMIM:619301
Essential Thrombocythemia
Prolonged bleeding time, Abnormality of thrombocytes, Splenomegaly, Abnormal platelet morphology,... ORPHA:3318
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia
Epistaxis, Anemia of inadequate production, Acanthocytosis, Poikilocytosis, Bruising susceptibili... OMIM:300367
Propionic Acidemia
Hepatomegaly, Pancytopenia, Hypoglycemia, Osteoporosis, Anemia, Neutropenia, Failure to thrive, P... OMIM:606054
Ataxia-Pancytopenia Syndrome
Pancytopenia, Acute myelomonocytic leukemia, Anemia, Neutropenia, Hypoplastic anemia, Thrombocyto... OMIM:159550
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Thrombocytopenia OMIM:166990
Eosinophilia, Familial
Anemia, Leukocytosis, Eosinophilia, Thrombocytopenia OMIM:131400
Insulin-Resistance Syndrome Type B
Osteoarthritis, Fasting hyperinsulinemia, Increased body weight, Leukopenia, Glucose intolerance,... ORPHA:2298
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Hyperglycemia, Hyperinsulinemia, Obesity ORPHA:329249
Felty Syndrome
Hepatomegaly, Splenomegaly, Cellulitis, Limitation of joint mobility, Osteolysis, Synovitis, Lymp... ORPHA:47612
Diabetes Mellitus, Ketosis-Prone
Beta-cell dysfunction, Insulin resistance, Diabetes mellitus OMIM:612227
Agammaglobulinemia 7, Autosomal Recessive
Reduced natural killer cell count, Neutropenia OMIM:615214
Cortisone Reductase Deficiency 2
Insulin resistance, Obesity OMIM:614662
Hermansky-Pudlak Syndrome 6
Abnormal bleeding, Prolonged bleeding time, Epistaxis, Impaired ADP-induced platelet aggregation,... OMIM:614075
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults
Acute myeloid leukemia, Neutropenia OMIM:607847
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Glucose intolerance, Hyperglycemia OMIM:307500
Necrotizing Enterocolitis
Small for gestational age, Leukocytosis, Peritonitis, Abnormal glucose homeostasis, Neutropenia, ... ORPHA:391673
Transcobalamin Deficiency
Pancytopenia, Lymphopenia, Thrombocytopenia, Neutropenia ORPHA:859
Erythroleukemia, Familial, Susceptibility To
Acute myeloid leukemia, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thrombocytopenia OMIM:133180
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia OMIM:252270
Deafness-Lymphedema-Leukemia Syndrome
Prolonged bleeding time, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acute leukemia, I... ORPHA:3226
Morbid Obesity And Spermatogenic Failure
Insulin resistance, Hepatic steatosis, Type II diabetes mellitus, Obesity OMIM:615703
Anemia, Sideroblastic, 5
Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia OMIM:619523
Ghosal Hematodiaphyseal Dysplasia
Refractory anemia, Myelofibrosis, Increased bone mineral density, Leukopenia, Hyperostosis crania... OMIM:231095
Hemochromatosis, Type 3
Arthritis, Cirrhosis, Neutropenia, Lymphopenia, Anemia OMIM:604250
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Abnormal bleeding, Thrombocytopenia OMIM:314000
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Macrocytic anemia, Anisocytosis, Elliptocytosis, Poikilocytosis, Neutropenia, Abnormal reticulocy... OMIM:300835
Hermansky-Pudlak Syndrome 9
Leukopenia, Abnormal platelet aggregation, Thrombocytopenia OMIM:614171
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Platelet Responsiveness To Adrenaline, Depressed
Impaired epinephrine-induced platelet aggregation OMIM:173580
Lipodystrophy, Familial Partial, Type 4
Lipodystrophy, Lipoatrophy, Insulin-resistant diabetes mellitus, Insulin resistance, Hepatic stea... OMIM:613877
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Eosinophilia, Autoimmune thrombocytopenia, Hepatitis, Lymphadenopathy, Anemia, Arthritis, Coombs-... OMIM:304790
Neutropenia, Severe Congenital, 3, Autosomal Recessive
Acute lymphoblastic leukemia, Neutropenia OMIM:610738
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction
Hyperglycemia, Elevated hemoglobin A1c, Maturity-onset diabetes of the young, Exocrine pancreatic... OMIM:609812
Polycythemia Vera
Gastrointestinal hemorrhage, Cerebral hemorrhage, Splenomegaly, Leukocytosis, Increased hemoglobi... OMIM:263300
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Hypoglycemia, Small for gestational age, Insulin-resistant diabetes mellitus, Hyperinsulinemia, D... OMIM:262190
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Hepatomegaly, Inguinal hernia, Failure to thrive, Intermittent thrombocytopenia, Perianal abscess... OMIM:612541
Bilateral Striopallidodentate Calcinosis
Thrombocytopenia, Subcutaneous hemorrhage ORPHA:1980
Immunodeficiency 7
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Lymphadenopathy, Neut... OMIM:615387
Dk Phocomelia Syndrome
Thrombocytopenia OMIM:223340
Autoimmune Lymphoproliferative Syndrome, Type Iia
Hepatomegaly, Autoimmune hemolytic anemia, Eosinophilia, Chronic noninfectious lymphadenopathy, A... OMIM:603909
Immunodeficiency With Hyper-Igm, Type 3
Absence of lymph node germinal center, Neutropenia OMIM:606843
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Cervical lymphadenopathy, B lymphocytopenia, Failure to thrive in infancy, Abnormally low T cell ... OMIM:618987
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Failure to thrive, Eosinophilia, Autoimmune thrombocytopenia, Decreased proportion of CD8-positiv... ORPHA:169154
Lymphoproliferative Syndrome, X-Linked, 1
Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Fulminant hepatitis, Lymphadenopathy, ... OMIM:308240
Acth-Independent Macronodular Adrenal Hyperplasia 2
Hyperglycemia, Osteoporosis, Increased body weight, Abdominal obesity OMIM:615954
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Osteopenia, Absent peripheral lymph nodes in presence of infection, Increased T cell count, Incre... ORPHA:98813
Immunodeficiency 84
Perianal abscess, Splenomegaly, B lymphocytopenia OMIM:619437
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Hepatomegaly, Splenomegaly, Anemia, Neutropenia, Failure to thrive, Pancreatitis, Thrombocytopenia ORPHA:79312
Autoinflammatory-Pancytopenia Syndrome
Pancytopenia, Lipodystrophy, Hepatosplenomegaly, Cholestatic liver disease, Granuloma, Hepatic fi... OMIM:619858
Immunodeficiency 76
Splenomegaly, Lymphadenopathy, T lymphocytopenia, B lymphocytopenia, Lymphopenia OMIM:619164
Acanthosis Nigricans With Muscle Cramps And Acral Enlargement
Insulin resistance OMIM:200170
Microcephalic Primordial Dwarfism, Toriello Type
Enamel hypoplasia, Neutropenia ORPHA:2643
Lipodystrophy, Familial Partial, Type 6
Diabetes mellitus, Lipodystrophy, Insulin resistance, Abdominal obesity, Hepatic steatosis OMIM:615980
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Acute myeloid leukemia, Pancytopenia, Hepatocellular carcinoma, Thrombocytopenia, Splenomegaly, H... ORPHA:158057
X-Linked Agammaglobulinemia
Recurrent cutaneous abscess formation, Failure to thrive, Osteomyelitis, Abnormality of the tonsi... ORPHA:47
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Anemia, Radioulnar synostosis, Neutropenia, Congenital thrombocytopenia, Thrombocytopenia, Limite... OMIM:616738
Preeclampsia/Eclampsia 1
Thrombocytopenia OMIM:189800
Maturity-Onset Diabetes Of The Young, Type 11
Overweight, Obesity, Maturity-onset diabetes of the young OMIM:613375
Agammaglobulinemia 4, Autosomal Recessive
Neutropenia, Abnormal T cell morphology OMIM:613502
Hemophagocytic Lymphohistiocytosis, Familial, 3
Hemophagocytosis, Granulocytopenia, Anemia, Hepatosplenomegaly OMIM:608898
Symptomatic Form Of Hfe-Related Hemochromatosis
Hepatomegaly, Cholangiocarcinoma, Diabetes mellitus, Portal hypertension, Joint stiffness, Spleno... ORPHA:465508
Pancreatic And Cerebellar Agenesis
Reduced subcutaneous adipose tissue, Failure to thrive, Diabetes mellitus, Hypoglycemia, Joint st... OMIM:609069
Mandibuloacral Dysplasia With Type B Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Decreased adipose tissue around neck, Insulin-resis... OMIM:608612
Felty Syndrome
Splenomegaly, Rheumatoid arthritis, Neutropenia OMIM:134750
Whim Syndrome 1
Neutropenia OMIM:193670
Congenital Amegakaryocytic Thrombocytopenia
Thrombocytopenia, Abnormal hemoglobin, Anemia ORPHA:3319
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Splenomegaly, Lymphadenopathy, Decreased proportion of class-switched memory B cells, T lymphocyt... OMIM:615513
Familial Renal Glucosuria
Elevated hemoglobin A1c, Insulin resistance, Glycosuria, Hyperglycemia, Abnormal oral glucose tol... ORPHA:69076
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Hepatomegaly, Hypoglycemia, Leukopenia, Neutropenia, Failure to thrive, Pancreatitis, Thrombocyto... OMIM:251000
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Hyperglycemia OMIM:618970
Diamond-Blackfan Anemia 8
Macrocytic anemia, Increased mean corpuscular volume, Neutropenia OMIM:612563
Greig Cephalopolysyndactyly Syndrome
Inguinal hernia, Craniosynostosis, Camptodactyly of toe, Umbilical hernia, Hyperglycemia, Joint c... OMIM:175700
Griscelli Syndrome Type 2
Hepatomegaly, Pancytopenia, Splenomegaly, Jaundice, Lymphadenopathy, Hemophagocytosis, Neutropenia ORPHA:79477
Familial Partial Lipodystrophy, Dunnigan Type
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Diabetes mellitus, Lipodystrophy, Lip... ORPHA:2348
Pparg-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Diabetes mellitus, Lipoatrophy, Mater... ORPHA:79083
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency
Large for gestational age, Anemia, Bone marrow hypocellularity, Neutropenia, Umbilical hernia, Fa... OMIM:614520
Pelger-Huet Anomaly
Abnormality of neutrophils, Hyposegmentation of neutrophil nuclei, Giant platelets, Neutropenia, ... OMIM:169400
Congenital Disorder Of Glycosylation With Defective Fucosylation 1
Osteopenia, Hypoglycemia, Neutropenia, Joint contracture, Failure to thrive OMIM:618005
Mandibuloacral Dysplasia With Type A Lipodystrophy
Osteopenia, Hepatomegaly, Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adip... OMIM:248370
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Hypoglycemia, Large for gestational age, Obesity, Truncal obesity, Fasting hypoglycemia, Hypoinsu... OMIM:240900
Isolated Sedoheptulokinase Deficiency
Inguinal hernia, Portal hypertension, Flexion contracture, Hepatitis, Hypochromic microcytic anem... ORPHA:440713
Thrombocytopenia 3
Thrombocytopenia, Epistaxis, Petechiae, Decreased mean platelet volume OMIM:273900
Hyperinsulinemic Hypoglycemia, Familial, 2
Hypoglycemia, Large for gestational age, Nesidioblastosis, Pancreatic islet-cell hyperplasia, Hyp... OMIM:601820
Neurofibromatosis-Noonan Syndrome
Prolonged bleeding time ORPHA:638
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Diabetes mellitus, Lipodystrophy, Ins... OMIM:615381
Spinocerebellar Ataxia, Autosomal Recessive 23
Neutropenia OMIM:616949
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Autoimmune hemolytic anemia, Fluctuating splenomegaly, Autoimmune thrombocytopenia, Neutropenia i... OMIM:619220
Neonatal Alloimmune Neutropenia
Jaundice, Neutropenia in presence of anti-neutropil antibodies, Maternal diabetes ORPHA:464370
Lipodystrophy, Familial Partial, Type 2
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Acute pancreatitis, Reduced subcutane... OMIM:151660
Autoinflammatory Disease, Systemic, X-Linked
Osteomyelitis, Hepatosplenomegaly, Panniculitis, B lymphocytopenia, Neutropenia OMIM:301081
Dyskeratosis Congenita, Autosomal Dominant 2
Pancytopenia, Aplastic anemia, Osteoporosis, Leukopenia, Hepatic fibrosis, Bone marrow hypocellul... OMIM:613989
Diabetes And Deafness, Maternally Inherited
Hyperglycemia, Type II diabetes mellitus OMIM:520000
Congenital Generalized Lipodystrophy
Hepatomegaly, Diabetes mellitus, Lipodystrophy, Adipose tissue loss, Insulin resistance, Bone cys... ORPHA:528
Bernard-Soulier Syndrome
Abnormal bleeding, Gastrointestinal hemorrhage, Spontaneous, recurrent epistaxis, Impaired ristoc... ORPHA:274
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Decreased proportion of class-switched memory B cells, B lymphocytopenia, Absent circulating B ce... OMIM:619705
Combined Cellular And Humoral Immune Defects With Granulomas
T lymphocytopenia, B lymphocytopenia OMIM:233650
Cyclic Neutropenia
Cyclic neutropenia, Perianal abscess, Cervical lymphadenopathy, Peritonitis, Recurrent tonsilliti... ORPHA:2686
Donohue Syndrome
Adipose tissue loss, Hyperinsulinemia, Cholestasis, Severe failure to thrive, Hepatic fibrosis, P... OMIM:246200
Severe Neurodegenerative Syndrome With Lipodystrophy
Reduced subcutaneous adipose tissue, Hepatomegaly, Reduced intraabdominal adipose tissue, Insulin... ORPHA:363400
Short Syndrome
Joint laxity, Inguinal hernia, Lipodystrophy, Lipoatrophy, Small for gestational age, Insulin res... OMIM:269880
Cerebrooculofacioskeletal Syndrome 1
Failure to thrive, Small for gestational age, Insulin resistance, Flexion contracture, Osteoporos... OMIM:214150
Hyperinsulinemic Hypoglycemia, Familial, 1
Large for gestational age, Pancreatic islet-cell hyperplasia, Hypoglycemic seizures, Hyperinsulin... OMIM:256450
Immunodeficiency 103, Susceptibility To Fungal Infections
Abnormal B cell count, Hypereosinophilia, Lymphadenopathy, Abnormal proportion of CD8-positive T ... OMIM:212050
Cernunnos-Xlf Deficiency
Anemia, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Thrombocytopenia ORPHA:169079
Bone Marrow Failure Syndrome 2
Leukopenia, Thrombocytopenia, Anemia OMIM:615715
Congenital Factor Vii Deficiency
Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Post-partum hemorrhage,... ORPHA:327
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Hepatomegaly, Anemia, Neutropenia, Pancreatitis, Thrombocytopenia ORPHA:289916
Mandibuloacral Dysplasia
Loss of subcutaneous adipose tissue in limbs, Lipoatrophy, Increased subcutaneous truncal adipose... ORPHA:2457
Methylcobalamin Deficiency Type Cble
Macrocytic anemia, Pancytopenia, Osteoporosis, Abnormality of the liver, Increased mean corpuscul... ORPHA:2169
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
T lymphocytopenia, Arthritis, B lymphocytopenia, Failure to thrive secondary to recurrent infecti... OMIM:601457
Factor X Deficiency
Epistaxis, Prolonged bleeding after surgery, Intracranial hemorrhage, Prolonged prothrombin time,... OMIM:227600
Autosomal Agammaglobulinemia
Osteomyelitis, Neutropenia, Hepatitis, Arthritis, Cellulitis, Failure to thrive ORPHA:33110
Macrophage Activation Syndrome
Hepatomegaly, Splenomegaly, Hepatitis, Lymphadenopathy, Anemia, Hemophagocytosis, Neutropenia, Ju... ORPHA:158061
Diamond-Blackfan Anemia 4
Erythroid hypoplasia, Macrocytic anemia, Reticulocytopenia, Neutropenia OMIM:612527
Multicentric Reticulohistiocytosis
Arthritis, Cachexia, Histiocytosis ORPHA:139436
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Gout, Anemia, Neutropenia OMIM:617056
Mitochondrial Complex I Deficiency, Nuclear Type 33
Small for gestational age, Hypoglycemia, Neutropenia OMIM:618253
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Failure to thrive, Absence of lymph node germinal center, T lymphocytopenia, B lymphocytopenia, L... ORPHA:277
Immunodeficiency 102
Hepatomegaly, Autoimmune thrombocytopenia, Nodular regenerative hyperplasia of liver, Neutropenia... OMIM:301082
Lipe-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Lipodystrophy, Insulin-resistant diab... ORPHA:435660
Idiopathic Aplastic Anemia
Pancytopenia, Epistaxis, Thrombocytopenia, Retinal hemorrhage, Reticulocytopenia, Gingival bleedi... ORPHA:88
Fanconi Anemia, Complementation Group V
Anemia, Bone marrow hypocellularity, Thrombocytopenia, Neutropenia OMIM:617243
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Small for gestational age, Hypoglycemia, Insulin resistance, Osteoporosis, Truncal obesity, Failu... ORPHA:73272
Combined Oxidative Phosphorylation Deficiency 54
Hyperglycemia, Obesity OMIM:619737
Fanconi-Bickel Syndrome
Osteopenia, Hepatomegaly, Failure to thrive, Diabetes mellitus, Impaired glucose tolerance, Ricke... ORPHA:2088
Beta-Ketothiolase Deficiency
Hepatomegaly, Hypoglycemia, Leukocytosis, Weight loss, Thrombocytosis, Hyperglycemia ORPHA:134
Neutropenia, Severe Congenital, 8, Autosomal Dominant
Exocrine pancreatic insufficiency, Neutropenia OMIM:618752
Immunodeficiency, Common Variable, 8, With Autoimmunity
Pancytopenia, Autoimmune hemolytic anemia, Generalized lymphadenopathy, Chronic neutropenia, Auto... OMIM:614700
Lipodystrophy, Congenital Generalized, Type 4
Osteopenia, Hepatomegaly, Lipodystrophy, Splenomegaly, Insulin resistance, Flexion contracture, O... OMIM:613327
Acute Panmyelosis With Myelofibrosis
Acute myeloid leukemia, Myelofibrosis, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia,... ORPHA:86843
Immunodeficiency 15A
Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells... OMIM:618204
Akt2-Related Familial Partial Lipodystrophy
Hepatomegaly, Lipodystrophy, Insulin-resistant diabetes mellitus, Insulin resistance, Increased i... ORPHA:79085
Type 1 Diabetes Mellitus
Hyperglycemia, Diabetes mellitus OMIM:222100
Body Mass Index Quantitative Trait Locus 20
Increased bone mineral density, Hyperinsulinemia, Obesity, Tall stature OMIM:618406
Diabetes Mellitus, Permanent Neonatal, 3
Type I diabetes mellitus, Hyperglycemia, Small for gestational age, Glycosuria OMIM:618857
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Reduced subcutaneous adipose tissue, ... ORPHA:280365
Thrombocytopenia, Anemia, And Myelofibrosis
Myelofibrosis, Splenomegaly, Thrombocytopenia, Anisopoikilocytosis, Anemia OMIM:617441
Congenital Factor X Deficiency
Gastrointestinal hemorrhage, Epistaxis, Subarachnoid hemorrhage, Prolonged bleeding after surgery... ORPHA:328
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Inguinal hernia, Normochromic anemia, Neutropenia, Failure to thrive, Thrombocytopenia OMIM:614857
Wiskott-Aldrich Syndrome 2
Decreased proportion of CD8-positive T cells, Thrombocytopenia OMIM:614493
Bardet-Biedl Syndrome 9
Truncal obesity, Hyperglycemia, Obesity OMIM:615986
Immunodeficiency, Common Variable, 1
Hepatomegaly, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Decreased propo... OMIM:607594
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Increased susceptibility to fractures, Neutropenia, Lymphopenia, Reduced natural killer cell coun... OMIM:619752
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... ORPHA:231154
Imerslund-Gräsbeck Syndrome
Reticulocytosis, Macrocytic anemia, Pancytopenia, Megaloblastic anemia, Anisopoikilocytosis, Abno... ORPHA:35858
Shwachman-Diamond Syndrome
Normocytic anemia, Osteopenia, Transient neutropenia, Aplastic anemia, Leukopenia, Neutropenia, P... ORPHA:811
Bone Marrow Failure Syndrome 3
Acute myeloid leukemia, Pancytopenia, Failure to thrive, Aplastic anemia, Joint hypermobility, Pa... OMIM:617052
Autoimmune Lymphoproliferative Syndrome
Hepatomegaly, Autoimmune hemolytic anemia, Eosinophilia, Chronic noninfectious lymphadenopathy, A... OMIM:601859
Leukodystrophy, Hypomyelinating, 24
Flexion contracture, B lymphocytopenia OMIM:619851
Proteasome-Associated Autoinflammatory Syndrome 2
Increased CD4:CD8 ratio, Lipodystrophy, Lymphadenopathy, B lymphocytopenia, Failure to thrive, De... OMIM:618048
Acquired Aneurysmal Subarachnoid Hemorrhage
Leukocytosis, Hyperglycemia ORPHA:90065
Sea-Blue Histiocyte Disease
Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis OMIM:269600
Reticular Dysgenesis
Leukopenia, Congenital agranulocytosis, Lymphopenia, Hypoplasia of the thymus OMIM:267500
Wolcott-Rallison Syndrome
Hepatomegaly, Neonatal insulin-dependent diabetes mellitus, Jaundice, Iron deficiency anemia, Abn... ORPHA:1667
Glycogen Storage Disease Ib
Hepatomegaly, Pancreatic fibrosis, Hypoglycemia, Hepatocellular carcinoma, Splenomegaly, Osteopor... OMIM:232220
Immunodeficiency 62
Increased proportion of transitional B cells, Decreased proportion of memory B cells, B lymphocyt... OMIM:618459
Fetal Parvovirus Syndrome
Thrombocytopenia, Anemia ORPHA:295
Immunodeficiency By Defective Expression Of Mhc Class Ii
Pancytopenia, Autoimmune hemolytic anemia, Chronic hepatitis due to cryptosporidium infection, Au... ORPHA:572
Obesity Due To Melanocortin 4 Receptor Deficiency
Increased adipose tissue, Hyperinsulinemia, Obesity, Type II diabetes mellitus, Childhood-onset t... ORPHA:71529
Agammaglobulinemia 8A, Autosomal Dominant
B lymphocytopenia OMIM:616941
Shwachman-Diamond Syndrome 1
Acute myeloid leukemia, Hepatomegaly, Pancytopenia, Small for gestational age, Persistence of hem... OMIM:260400
Activated Pi3K-Delta Syndrome
Hepatomegaly, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy, Arthritis, B lymphocytopenia,... ORPHA:397596
Fetal And Neonatal Alloimmune Thrombocytopenia
Abnormal bleeding, Gastrointestinal hemorrhage, Subarachnoid hemorrhage, Neonatal alloimmune thro... ORPHA:853
Neonatal Lupus Erythematosus
Hemolytic anemia, Pancytopenia, Hepatomegaly, Aplastic anemia, Splenomegaly, Cholestasis, Anemia,... ORPHA:398124
Cohen Syndrome
Small for gestational age, Leukopenia, Neutropenia, Childhood-onset truncal obesity, Joint hyperm... OMIM:216550
Acute Promyelocytic Leukemia
Pancytopenia, Leukocytosis, Lymphadenopathy, Anemia, Leukopenia, Weight loss, Neutropenia, Thromb... ORPHA:520
Aregenerative Anemia
Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Lymphadenopathy, Bone marrow hypocellulari... ORPHA:101096
Agammaglobulinemia 8B, Autosomal Recessive
Pancytopenia, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, B Acu... OMIM:619824
Klippel-Trénaunay Syndrome
Gastrointestinal hemorrhage, Prolonged bleeding time, Internal hemorrhage, Microcytic anemia ORPHA:90308
3-Methylglutaconic Aciduria, Type Viib
Neonatal hypoglycemia, Flexion contracture, Leukopenia, Neutropenia, Hepatic steatosis, Thrombocy... OMIM:616271
Congenital Disorder Of Glycosylation, Type Iif
Subcutaneous hemorrhage, Macrothrombocytopenia, Neutropenia, Decreased platelet glycoprotein Ib, ... OMIM:603585
Omenn Syndrome
Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Lymphadenop... OMIM:603554
Immunodeficiency, Common Variable, 13
Acute lymphoblastic leukemia, Pancytopenia, B lymphocytopenia OMIM:616873
Obesity Due To Prohormone Convertase I Deficiency
Increased adipose tissue, Hyperinsulinemia, Obesity, Hypoglycemic seizures, Cholestasis, Failure ... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Increased adipose tissue, Hyperinsulinemia, Obesity, Hypoglycemic seizures, Cholestasis, Failure ... ORPHA:71526
Chronic Myeloid Leukemia
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... ORPHA:521
Immunodeficiency 109 With Lymphoproliferation
Splenomegaly, Pancytopenia, Generalized lymphadenopathy, Absent circulating B cells OMIM:620282
Hemangioma-Thrombocytopenia Syndrome
Microangiopathic hemolytic anemia, Thrombocytopenia OMIM:141000
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Hyperglycemia OMIM:604484
Hyperinsulinism Due To Hnf1A Deficiency
Hepatomegaly, Small for gestational age, Ketotic hypoglycemia, Maternal diabetes, Reactive hypogl... ORPHA:324575
Developmental And Epileptic Encephalopathy 66
Anemia, Neutropenia OMIM:618067
Atypical Hemolytic Uremic Syndrome
Microangiopathic hemolytic anemia, Thrombocytopenia ORPHA:2134
Diamond-Blackfan Anemia 7
Osteopenia, Macrocytic anemia, Osteoporosis, Increased mean corpuscular volume, Neutropenia OMIM:612562
Schimke Immunoosseous Dysplasia
Osteopenia, Pancytopenia, Small for gestational age, Abnormal T cell morphology, Anemia, Neutrope... OMIM:242900
Short Stature, Microcephaly, And Endocrine Dysfunction
Inguinal hernia, Diabetes mellitus, Insulin resistance, Truncal obesity, Lymphopenia, Anemia OMIM:616541
Immunodeficiency 13
Lymphopenia, T lymphocytopenia, B lymphocytopenia, Decreased proportion of CD4-positive helper T ... OMIM:615518
Autoimmune Lymphoproliferative Syndrome
Lymphocytosis, Increased B cell count, Elevated proportion of CD4-negative, CD8-negative, alpha-b... ORPHA:3261
Combined Deficiency Of Factor V And Factor Viii
Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Joint hemorrhage, Prolo... ORPHA:35909
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Nonketotic hypoglycemia, Large for gestational age, Enlarged tonsils, Hypoglycemic seizures, Trun... ORPHA:293964
Wiskott-Aldrich Syndrome
Abnormal eosinophil morphology, Microcytic anemia, Intracranial hemorrhage, Hypoplasia of the thy... ORPHA:906
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Thrombocytopenia, Reticulocytopenia, Leukopenia, Panniculitis, B lymphocytopenia, Bone marrow hyp... ORPHA:508542
3-Methylglutaconic Aciduria Type 7
Bone marrow hypocellularity, Infection associated neutropenia, Neutropenia, Hepatic steatosis, Ne... ORPHA:445038
Immunodeficiency 68
Abscess, Lymphadenitis, T lymphocytopenia, B lymphocytopenia, Septic arthritis, Abnormal natural ... OMIM:612260
Chediak-Higashi Syndrome
Impaired neutrophil bactericidal activity, Hepatomegaly, Thrombocytopenia, Splenomegaly, Jaundice... OMIM:214500
Congenital Enterovirus Infection
Abnormal macrophage morphology, Leukocytosis, Hepatitis, Cholestasis, Anemia, Leukopenia, Neutrop... ORPHA:292
Ataxia-Pancytopenia Syndrome
Pancytopenia, Abnormal macrophage morphology, Abnormality of neutrophils, Splenomegaly, Acute mye... ORPHA:2585
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Hemolytic anemia, Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cel... OMIM:606367
Fusariosis
Brain abscess, Fasciitis, Lung abscess, Osteomyelitis, Abnormality of the spleen, Peritonitis, Ce... ORPHA:228119
Immunodeficiency 64 With Lymphoproliferation
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... OMIM:618534
Acquired Generalized Lipodystrophy
Hepatomegaly, Acute pancreatitis, Insulin resistance, Insulin-resistant diabetes mellitus, Hyperi... ORPHA:79086
Hypothyroidism, Congenital, Nongoitrous, 6
Omphalocele, Increased body mass index, Increased body weight, Anemia OMIM:614450
Forsythe-Wakeling Syndrome
Thrombocytopenia OMIM:613606
Pgm3-Cdg
Hemolytic anemia, Failure to thrive, Osteomyelitis, Abnormal proportion of CD8-positive T cells, ... ORPHA:443811
Immunodeficiency With Hyper-Igm, Type 1
Hemolytic anemia, Hepatomegaly, Absence of lymph node germinal center, Splenomegaly, Enlarged ton... OMIM:308230
Congenital Disorder Of Glycosylation, Type Iic
Cellulitis, Neutrophilia, Reduction of neutrophil motility OMIM:266265
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Anisocytosis, Anemia of inadequate production, Macrothrombocytopenia, Poikilocytosis, Hypochromic... ORPHA:67044
Letterer-Siwe Disease
Jaundice, Hepatosplenomegaly, Anemia, Neutropenia, Thrombocytopenia OMIM:246400
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Reactive hypoglycemia, Hyperinsulinemia, Increased body weight, Pancreatic islet-cell hyperplasia... ORPHA:276608
Hermansky-Pudlak Syndrome 2
Prolonged bleeding time, Absent platelet dense granules, Splenomegaly, Impaired ADP-induced plate... OMIM:608233
Immunodeficiency 110 With Lymphoproliferation
Autoimmune hemolytic anemia, Lymphopenia, Neutropenia OMIM:614868
Diamond-Blackfan Anemia 11
Radioulnar synostosis, Bone marrow hypocellularity, Anemia of inadequate production, Neutropenia OMIM:614900
Body Mass Index Quantitative Trait Locus 19
Insulin resistance, Hyperinsulinemia, Obesity OMIM:617885
Agammaglobulinemia 2, Autosomal Recessive
Absent circulating B cells, Abnormal T cell morphology OMIM:613500
Acquired Purpura Fulminans
Intracranial hemorrhage, Prolonged prothrombin time, Macular purpura, Internal hemorrhage, Thromb... ORPHA:49566
Immunodeficiency 57 With Autoinflammation
Perianal abscess, T lymphocytopenia, B lymphocytopenia, Failure to thrive, Reduced natural killer... OMIM:618108
Malaria
Anemia, Thrombocytopenia ORPHA:673
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Postprandial hyperglycemia, Failure to thrive, Ketotic hypoglycemia, Glycosuria ORPHA:2089
Aicardi-Goutieres Syndrome 3
Thrombocytopenia, Hepatosplenomegaly OMIM:610329
Familial Hemophagocytic Lymphohistiocytosis
Hepatomegaly, Splenomegaly, Jaundice, Lymphadenopathy, Anemia, Cholestatic liver disease, Hemopha... ORPHA:540
3-Methylglutaconic Aciduria, Type Viia
Anisopoikilocytosis, Anemia, Neutropenia OMIM:619835
Transcobalamin Ii Deficiency
Hepatomegaly, Macrocytic anemia, Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Neutropen... OMIM:275350
Whipple Disease
Hepatomegaly, Cachexia, Splenomegaly, Mediastinal lymphadenopathy, Insulin resistance, Arthritis,... ORPHA:3452
Werner Syndrome
Increased bone mineral density, Lipodystrophy, Lipoatrophy, Joint stiffness, Insulin resistance, ... ORPHA:902
Aromatase Deficiency
Osteopenia, Eunuchoid habitus, Delayed epiphyseal ossification, Insulin resistance, Osteoporosis,... ORPHA:91
Niemann-Pick Disease, Type B
Bone-marrow foam cells, Thrombocytopenia, Splenomegaly, Sea-blue histiocytosis, Anemia OMIM:607616
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Osteopenia, Hepatomegaly, Neutrophilia, Osteomyelitis, Abscess, Failure to thrive in infancy, Spl... OMIM:612852
Dend Syndrome
Hyperglycemia, Elevated hemoglobin A1c ORPHA:79134
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Hepatomegaly, Failure to thrive, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia... OMIM:602450
Trichothiodystrophy 3, Photosensitive
Failure to thrive, Lymphopenia, Neutropenia OMIM:616395
Short Syndrome
Inguinal hernia, Diabetes mellitus, Lipodystrophy, Abnormal dental enamel morphology, Insulin res... ORPHA:3163
Barth Syndrome
Cyclic neutropenia, Hypochromic microcytic anemia, Granulocytopenia, Neutropenia, Failure to thrive OMIM:302060
Mucopolysaccharidosis-Plus Syndrome
Hepatomegaly, Splenomegaly, Flexion contracture, Anemia, Leukopenia, Macrovesicular hepatic steat... OMIM:617303
Fanconi Anemia, Complementation Group T
Acute myeloid leukemia, Pancytopenia, Anemia, Thrombocytopenia OMIM:616435
Fanconi-Bickel Syndrome
Reduced subcutaneous adipose tissue, Hepatomegaly, Osteomalacia, Intrahepatic cholestasis, Ricket... OMIM:227810
Hemophagocytic Syndrome Associated With An Infection
Hepatomegaly, Pancytopenia, Splenomegaly, Abnormal T cell subset distribution, Anemia, Hemophagoc... ORPHA:158048
Bloom Syndrome
Decreased proportion of CD4-positive T cells, Acute myeloid leukemia, Diabetes mellitus, Small fo... ORPHA:125
Myelofibrosis
Myelofibrosis, Splenomegaly, Myeloproliferative disorder OMIM:254450
Dentinogenesis Imperfecta
Prolonged bleeding time, Bruising susceptibility ORPHA:49042
Methylmalonic Aciduria, Cblb Type
Hepatomegaly, Pancytopenia, Anemia, Neutropenia, Failure to thrive, Thrombocytopenia OMIM:251110
Beta-Thalassemia Intermedia
Osteopenia, Extramedullary hematopoiesis, Reduced bone mineral density, Abnormality of the liver,... ORPHA:231222
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Acute myeloid leukemia, Hepatomegaly, Neutrophilia, Eosinophilia, Splenomegaly... ORPHA:98849
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Neutrophilia, Lipodystrophy, Failure to thrive in infancy, Leukocytosis, Lymphadenopathy, Increas... OMIM:617099
Pearson Marrow-Pancreas Syndrome
Sideroblastic anemia, Pancytopenia, Hepatomegaly, Pancreatic fibrosis, Failure to thrive, Small f... OMIM:557000
Thrombocytopenia 6
Myelofibrosis, Osteoporosis, Thrombocytopenia OMIM:616937
Sea-Blue Histiocytosis
Abnormal bleeding, Petechiae, Splenomegaly, Sea-blue histiocytosis, Thrombocytopenia ORPHA:158029
Primary Myelofibrosis
Abnormal bleeding, Pancytopenia, Extramedullary hematopoiesis, Thrombocytosis, Thrombocytopenia, ... ORPHA:824
Immunodeficiency 23
Hemolytic anemia, Failure to thrive, Eosinophilia, Abscess, Neutropenia, Lymphopenia, Joint hyper... OMIM:615816
Leishmaniasis
Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Lymphadenopathy, Anemia... ORPHA:507
Immunodeficiency 36 With Lymphoproliferation
Splenomegaly, Enlarged tonsils, Chronic lymphatic leukemia, Increased proportion of transitional ... OMIM:616005
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Neutropenia in presence of anti-neutrop... OMIM:615952
Thrombocytopenia 1
Epistaxis, Decreased mean platelet volume, Intermittent thrombocytopenia, Bruising susceptibility... OMIM:313900
Hermansky-Pudlak Syndrome 1
Prolonged bleeding time, Epistaxis, Hematochezia, Gingival bleeding, Ecchymosis, Bruising suscept... OMIM:203300
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hepatomegaly, Maternal diabetes, Large for gestational age, Hyperinsulinemia, Hypoglycemic seizur... ORPHA:276580
Sitosterolemia 1
Abnormal bleeding, Reticulocytosis, Thrombocytopenia, Splenomegaly, Giant platelets, Stomatocytos... OMIM:210250
Bangstad Syndrome
Insulin-resistant diabetes mellitus, Pancytopenia, Small for gestational age OMIM:210740
Familial Multiple Lipomatosis
Overgrowth, Insulin resistance, Lipodystrophy, Increased adipose tissue ORPHA:199276
Isovaleric Acidemia
Thrombocytopenia, Leukopenia, Cerebellar hemorrhage, Pancytopenia OMIM:243500
Schimke Immuno-Osseous Dysplasia
Failure to thrive, Small for gestational age, Thrombocytopenia, Decreased proportion of naive CD8... ORPHA:1830
Bare Lymphocyte Syndrome, Type Ii
Viral hepatitis, Cholangitis, Biliary tract abnormality, Neutropenia, Failure to thrive OMIM:209920
Developmental Delay, Hypotonia, And Impaired Language
Neutropenia OMIM:620012
Immunodeficiency 67
Liver abscess, Transient neutropenia OMIM:607676
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hypersplenism, Thrombocytopenia, Anemia, Splenomegaly OMIM:610539
Chromosome 14Q32 Duplication Syndrome, 700-Kb
Acute myeloid leukemia, Myelofibrosis, Chronic myelomonocytic leukemia OMIM:616604
Immunodeficiency 92
Hepatomegaly, Osteomyelitis, Cholangitis, Leukocytosis, Decreased proportion of class-switched me... OMIM:619652
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency
Pancytopenia, Failure to thrive in infancy, Cholangitis, Portal hypertension, Hypersplenism, Neut... ORPHA:228426
Cartilage-Hair Hypoplasia
Impaired lymphocyte transformation with phytohemagglutinin, Joint laxity, Macrocytic anemia, Join... OMIM:250250
Rothmund-Thomson Syndrome
Osteopenia, Abnormal trabecular bone morphology, Aplastic anemia, Abnormal dental enamel morpholo... ORPHA:2909
Aicardi-Goutieres Syndrome 6
Splenomegaly, Hemolytic anemia, Thrombocytopenia OMIM:615010
Fanconi Anemia, Complementation Group C
Pancytopenia, Small for gestational age, Flexion contracture, Reticulocytopenia, Anemia, Bone mar... OMIM:227645
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Brain abscess, Neutrophilia, Liver abscess, Abnormality of the pancreas, Abnormality of the lymph... ORPHA:54251
Spondyloenchondrodysplasia With Immune Dysregulation
Autoimmune thrombocytopenia, Lymphadenopathy, T lymphocytopenia, Sclerosis of skull base, Rheumat... OMIM:607944
Acute Generalized Exanthematous Pustulosis
Neutrophilia, Eosinophilia, Leukocytosis, Cholestasis, Lymphadenopathy, Neutropenia ORPHA:293173
Wiskott-Aldrich Syndrome
Impaired lymphocyte transformation with phytohemagglutinin, Prolonged bleeding time, Autoimmune h... OMIM:301000
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hepatomegaly, Ketotic hypoglycemia, Splenomegaly, Osteoporosis, Hepatocellular adenoma, Increased... ORPHA:79240
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Hepatomegaly, Pancytopenia, Small for gestational age, Megaloblastic anemia, Anemia, Neutropenia,... OMIM:277380
Fanconi Anemia, Complementation Group I
Fused cervical vertebrae, Decreased body weight, Bone marrow hypocellularity, Neutropenia OMIM:609053
Seckel Syndrome 10
Acute pancreatitis, Diabetes mellitus, Impaired glucose tolerance, Elevated hemoglobin A1c, Insul... OMIM:617253
Agammaglobulinemia 6, Autosomal Recessive
B lymphocytopenia, Abnormal T cell morphology OMIM:612692
Systemic Lupus Erythematosus 17
Leukopenia, Lymphopenia, Thrombocytopenia, Autoimmune thrombocytopenia OMIM:301080
Nephrotic Syndrome, Type 7
Hemolytic anemia, Thrombocytopenia OMIM:615008
Poikiloderma With Neutropenia
Joint laxity, Joint stiffness, Splenomegaly, Leukopenia, Neutropenia OMIM:604173
Wt Limb-Blood Syndrome
Thrombocytopenia, Pancytopenia, Hypoplastic anemia, Leukemia OMIM:194350
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hepatomegaly, Hypoglycemia, Abnormal erythrocyte enzyme level, Splenomegaly, Osteoporosis, Hepato... ORPHA:264580
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Autoimmune hemolytic anemia, Osteomyelitis, Failure to thrive in infancy, Cachexia, Autoimmune th... ORPHA:37042
Summitt Syndrome
Obesity, Craniosynostosis OMIM:272350
Relapsing Fever
Abnormal bleeding, Neutrophilia, Epistaxis, Thrombocytopenia, Leukocytosis, Leukopenia, Prolonged... ORPHA:91547
Wilson Disease
Hepatomegaly, Acute hepatitis, Splenomegaly, Jaundice, Hepatitis, Increased body weight, Weight l... ORPHA:905
Thyroid Hormone Resistance, Generalized, Autosomal Recessive
Diabetes mellitus, Small for gestational age, Increased body weight, Epiphyseal stippling, Type I... OMIM:274300
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Hepatomegaly, Large for gestational age, Hyperinsulinemia, Increased body weight, Glycosuria, Pan... ORPHA:263455
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Osteopenia, Hepatomegaly, Failure to thrive, Hypoglycemia, Chronic neutropenia, Osteoporosis, Hep... ORPHA:79259
Sepsis In Premature Infants
Hepatomegaly, Small for gestational age, Splenomegaly, Leukocytosis, Jaundice, Anemia, Neutropeni... ORPHA:90051
Mitochondrial Complex Iii Deficiency, Nuclear Type 6
Hyperglycemia, Failure to thrive, Hypoglycemia OMIM:615453
Agammaglobulinemia 1, Autosomal Recessive
Failure to thrive, B lymphocytopenia, Rectal abscess, Neutropenia OMIM:601495
Dopamine Beta-Hydroxylase Deficiency
Insulin resistance, Hyperinsulinemia, Hypoglycemia, Anemia ORPHA:230
Immunodeficiency 55
Absent natural killer cells, Lymphopenia, Lymphadenopathy, Neutropenia OMIM:617827
Isolated Permanent Neonatal Diabetes Mellitus
Failure to thrive, Neonatal insulin-dependent diabetes mellitus, Weight loss, Lower-limb joint co... ORPHA:99885
Abdominal Obesity-Metabolic Syndrome 3
Truncal obesity, Hyperglycemia, Type II diabetes mellitus, Abdominal obesity OMIM:615812
Aspergillosis
Osteomyelitis, Eosinophilia, Hepatitis, Neutropenia ORPHA:1163
Tufted Angioma
Anemia, Thrombocytopenia, Petechiae, Purpura ORPHA:1063
Osteopetrosis, Autosomal Recessive 4
Reticulocytosis, Petechiae, Splenomegaly, Anemia, Thrombocytopenia OMIM:611490
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Pancytopenia, Splenomegaly, Panniculitis, Hemophagocytosis, Anemia OMIM:618398
Pigmented Nodular Adrenocortical Disease, Primary, 4
Osteopenia, Diabetes mellitus, Dorsocervical fat pad, Osteoporosis, Increased body weight OMIM:615830
Methylmalonic Aciduria, Cbla Type
Hepatomegaly, Pancytopenia, Anemia, Neutropenia, Failure to thrive, Thrombocytopenia OMIM:251100
Pseudoxanthoma Elasticum-Like Disorder With Multiple Coagulation Factor Deficiency
Abnormal bleeding, Prolonged prothrombin time, Epistaxis OMIM:610842
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, B lymphocytopenia,... OMIM:619313
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hepatomegaly, Large for gestational age, Hyperinsulinemia, Hypoglycemic seizures, Fasting hypogly... ORPHA:276575
Onychotrichodysplasia And Neutropenia
Lymphocytosis, Chronic neutropenia, Neutropenia OMIM:258360
Subcutaneous Panniculitis-Like T-Cell Lymphoma
Weight loss, Panniculitis, Hemophagocytosis, Hepatosplenomegaly ORPHA:86884
Mixed Connective Tissue Disease
Gastrointestinal hemorrhage, Prolonged bleeding time, Hemolytic anemia, Splenomegaly, Leukopenia,... ORPHA:809
Marbach-Rustad Progeroid Syndrome
Reduced subcutaneous adipose tissue, Insulin resistance, Reduced bone mineral density OMIM:619322
Immunodeficiency 70
Decreased proportion of CD4-positive helper T cells, B lymphocytopenia OMIM:618969
Placental Insufficiency
Insulin resistance, Small for gestational age ORPHA:439167
Shwachman-Diamond Syndrome 2
Normocytic anemia, Hepatomegaly, Failure to thrive, Neutropenia, Hyperechogenic pancreas, Thrombo... OMIM:617941
Fanconi Anemia, Complementation Group E
Pancytopenia, Small for gestational age, Reticulocytopenia, Anemia, Neutropenia, Leukemia, Thromb... OMIM:600901
Evans Syndrome
Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, Jaundice, Auto... ORPHA:1959
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Hepatomegaly, Autoimmune hemolytic anemia, Pure red cell aplasia, Autoimmune thrombocytopenia, Sp... ORPHA:436159
Combined Immunodeficiency Due To Dock8 Deficiency
T lymphocytopenia, B lymphocytopenia ORPHA:217390
Phosphoglycerate Dehydrogenase Deficiency
Thrombocytopenia, Megaloblastic anemia OMIM:601815
Methylmalonic Acidemia With Homocystinuria Type Cblf
Reduced number of intrahepatic bile ducts, Failure to thrive, Neutropenia, Megaloblastic anemia ORPHA:79284
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Hepatomegaly, Abnormal B cell count, Abnormal T cell count, Autoimmune hemolytic anemia, Eosinoph... ORPHA:331206
Mandibuloacral Dysplasia With Type B Lipodystrophy
Insulin resistance, Osteolysis, Generalized lipodystrophy, Osteolytic defects of the distal phala... ORPHA:90154
Atypical Werner Syndrome
Sclerosis of hand bone, Increased bone mineral density, Diabetes mellitus, Lipoatrophy, Failure t... ORPHA:79474
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Splenomegaly, Thrombocytopenia, Hepatosplenomegaly, Hemophagocytosis, Anemia OMIM:613101
Rothmund-Thomson Syndrome Type 1
Osteopenia, Abnormal trabecular bone morphology, Aplastic anemia, Abnormal dental enamel morpholo... ORPHA:221008
Rothmund-Thomson Syndrome Type 2
Osteopenia, Abnormal trabecular bone morphology, Aplastic anemia, Abnormal dental enamel morpholo... ORPHA:221016
Hyperinsulinism Due To Ucp2 Deficiency
Hepatomegaly, Reactive hypoglycemia, Large for gestational age, Hypoglycemic seizures, Recurrent ... ORPHA:276556
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Osteopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Neutropenia in presence of ... ORPHA:391487
Dengue Fever
Gastrointestinal hemorrhage, Epistaxis, Cerebral hemorrhage, Thrombocytopenia, Leukopenia, Gingiv... ORPHA:99828
Portal Hypertension, Noncirrhotic, 2
Petechiae, Epistaxis, Splenomegaly, Ecchymosis, Thrombocytopenia OMIM:619463
Kasabach-Merritt Syndrome
Reticulocytosis, Thrombocytopenia, Abnormal lymphatic vessel morphology, Leukopenia, Hepatic hema... ORPHA:2330
Cole Disease
Hyperglycemia OMIM:615522
Fanconi Anemia, Complementation Group A
Pancytopenia, Small for gestational age, Reticulocytopenia, Anemia, Neutropenia, Leukemia, Thromb... OMIM:227650
Obesity Due To Congenital Leptin Deficiency
Decreased proportion of CD4-positive helper T cells, Insulin-resistant diabetes mellitus, Hyperin... ORPHA:66628
Mitchell-Riley Syndrome
Absent gallbladder, Diabetes mellitus, Biliary atresia, Cholestasis, Acholic stools, Hyperglycemi... OMIM:615710
Thyrocerebrorenal Syndrome
Thrombocytopenia ORPHA:3327
Hermansky-Pudlak Syndrome 10
Hepatomegaly, Splenomegaly, Neutropenia OMIM:617050
Immunodeficiency 85 And Autoimmunity
Failure to thrive in infancy, Oligoarthritis, T lymphocytopenia, Decreased proportion of CD4-posi... OMIM:619510
Non-Involuting Congenital Hemangioma
Thrombocytopenia ORPHA:141179
Autoinflammation With Infantile Enterocolitis
Pancytopenia, Diffuse alveolar hemorrhage, Splenomegaly, Anemia, Reduced natural killer cell coun... OMIM:616050
Hypokalemic Periodic Paralysis
Postprandial hyperglycemia ORPHA:681
Mandibuloacral Dysplasia With Type A Lipodystrophy
Insulin resistance, Flexion contracture, Limitation of joint mobility, Osteolysis, Osteolytic def... ORPHA:90153
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Hemolytic anemia, Lymphopenia, Thrombocytopenia OMIM:616744
Agammaglobulinemia, X-Linked
Hepatocellular carcinoma, Enteroviral hepatitis, T lymphocytopenia, Lymph node hypoplasia, B lymp... OMIM:300755
Obesity Due To Leptin Receptor Gene Deficiency
Decreased proportion of CD4-positive helper T cells, Insulin-resistant diabetes mellitus, Hyperin... ORPHA:179494
Obesity And Hypopigmentation
Overgrowth, Hyperinsulinemia, Hepatic steatosis, Obesity OMIM:620195
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1
Amegakaryocytic thrombocytopenia, Aplastic anemia, Congenital thrombocytopenia, Petechiae, Purpura OMIM:605432
Purine Nucleoside Phosphorylase Deficiency
Autoimmune hemolytic anemia, Failure to thrive, Pure red cell aplasia, Autoimmune thrombocytopeni... OMIM:613179
Hepatoportal Sclerosis
Abnormal bleeding, Gastrointestinal hemorrhage, Hypersplenism, Thrombocytopenia, Splenomegaly, Le... ORPHA:64743
Osteogenesis Imperfecta, Type Xvi
Prolonged bleeding time, Bruising susceptibility OMIM:616229
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia
Diabetes mellitus, Osteoporosis, Obesity OMIM:610628
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Hepatomegaly, Autoimmune hemolytic anemia, Severe B lymphocytopenia, Aplasia of the thymus, Eosin... OMIM:102700
Chédiak-Higashi Syndrome
Abnormal leukocyte morphology, Pancytopenia, Thrombocytopenia, Splenomegaly, Vacuolated lymphocyt... ORPHA:167
Khan-Khan-Katsanis Syndrome
Failure to thrive, Corneal scarring, Neutropenia, Joint contracture, Lymphopenia, Anemia OMIM:618460
Agammaglobulinemia 9, Autosomal Recessive
Thrombocytopenia, Failure to thrive, Absent circulating B cells OMIM:619693
Leigh Syndrome
Multiple joint contractures, Hypoglycemia, Neutropenia, Failure to thrive, Anemia ORPHA:506
Trichothiodystrophy
Osteopenia, Increased bone mineral density, Multiple joint contractures, Craniosynostosis, Absenc... ORPHA:33364
3-Methylglutaconic Aciduria Type 4
Thrombocytopenia ORPHA:67048
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos... OMIM:608203
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy
Hepatomegaly, Neutropenia, Microcytic anemia OMIM:251900
Bone Marrow Failure Syndrome 4
Leukopenia, Thrombocytopenia, Anemia OMIM:618116
Macrocephaly/Autism Syndrome
Joint laxity, Hepatomegaly, Large for gestational age, Splenomegaly, Obesity, Overgrowth, Lymphop... OMIM:605309
Silver-Russell Syndrome
Failure to thrive in infancy, Cachexia, Insulin resistance, Obesity, Recurrent hypoglycemia ORPHA:813
Whim Syndrome
Lymphadenitis, Neutropenia, Abnormal neutrophil morphology, Cellulitis, Lymphopenia ORPHA:51636
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Decreased proportion of memory B cells, B lymphocytopenia ORPHA:70593
Aicardi-Goutieres Syndrome 4
Splenomegaly, Pancytopenia, Thrombocytopenia, Hepatosplenomegaly OMIM:610333
Immunodeficiency 26 With Or Without Neurologic Abnormalities
T lymphocytopenia, B lymphocytopenia, Abnormal natural killer cell morphology OMIM:615966
Rabson-Mendenhall Syndrome
Reduced subcutaneous adipose tissue, Impaired glucose tolerance, Insulin resistance, Fasting hype... ORPHA:769
Castleman Disease
Myelofibrosis, Generalized lymphadenopathy, Follicular hyperplasia, Mediastinal lymphadenopathy, ... ORPHA:160
Thrombotic Thrombocytopenic Purpura
Reticulocytosis, Microangiopathic hemolytic anemia, Thrombocytopenia ORPHA:54057
Stormorken Syndrome
Abnormal bleeding, Howell-Jolly bodies, Epistaxis, Subarachnoid hemorrhage, Asplenia, Thrombocyto... OMIM:185070
Progeria-Short Stature-Pigmented Nevi Syndrome
Osteopenia, Neoplasm of the pancreas, Multiple joint contractures, Small for gestational age, Lac... ORPHA:2959
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)
Failure to thrive, Small for gestational age, Neutropenia OMIM:615471
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Hepatomegaly, Impaired glucose tolerance, Splenomegaly, Obesity, Cholestasis, Glucose intolerance... OMIM:615630
Lymphoproliferative Syndrome 1
Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Anemia, Leu... OMIM:613011
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Osteopenia, Delayed ossification of carpal bones, Neutropenia, Laryngotracheomalacia, Limited elb... OMIM:271510
Pediatric-Onset Graves Disease
Hepatomegaly, Craniosynostosis, Splenomegaly, Jaundice, Neutropenia in presence of anti-neutropil... ORPHA:525731
Rapidly Involuting Congenital Hemangioma
Thrombocytopenia ORPHA:141184
Adult-Onset Still Disease
Hepatomegaly, Generalized lymphadenopathy, Neutrophilia, Splenomegaly, Leukocytosis, Hepatitis, A... ORPHA:829
Pearson Syndrome
Reticulocytosis, Pancytopenia, Hepatomegaly, Pancreatic fibrosis, Diabetes mellitus, Small for ge... ORPHA:699
Congenital Disorder Of Glycosylation, Type Iik
Thrombocytopenia OMIM:614727
Kikuchi-Fujimoto Disease
Hepatomegaly, Generalized lymphadenopathy, Splenomegaly, Cervical lymphadenopathy, Lymphadenopath... ORPHA:50918
Cartilage-Hair Hypoplasia
Hepatomegaly, Abnormally ossified vertebrae, Abnormality of the pancreas, Neutropenia, Joint hype... ORPHA:175
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1
Abnormal bleeding, Epistaxis, Cerebral hemorrhage, Prolonged prothrombin time, Ecchymosis, Bruisi... OMIM:277450
Refractory Anemia With Excess Blasts
Abnormal bleeding, Acute myeloid leukemia, Anemia of inadequate production, Leukocytosis, Retinal... ORPHA:86839
Cohen Syndrome
Joint hyperflexibility, Failure to thrive in infancy, Obesity, Neutropenia ORPHA:193
Acquired Von Willebrand Syndrome
Gastrointestinal hemorrhage, Normocytic anemia, Refractory anemia, Epistaxis, Intracranial hemorr... ORPHA:99147
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Insulin-resistant diabetes mellitus, Insulin resistance ORPHA:90301
Stuve-Wiedemann Syndrome 2
Thrombocytopenia OMIM:619751
Zygomycosis
Brain abscess, Fasciitis, Diabetes mellitus, Mediastinal lymphadenopathy, Peritonitis, Osteolysis... ORPHA:73263
Congenital Fibrinogen Deficiency
Abnormal bleeding, Internal hemorrhage, Splenic rupture, Prolonged prothrombin time, Gingival ble... ORPHA:335
Rhabdoid Tumor
Thrombocytopenia, Internal hemorrhage, Anemia ORPHA:69077
Glycogen Storage Disease Ic
Hepatomegaly, Hypoglycemia, Cyclic neutropenia, Chronic pancreatitis, Gout, Hepatocellular carcin... OMIM:232240
Gaucher Disease, Type Iii
Splenomegaly, Pancytopenia, Thrombocytopenia OMIM:231000
Macs Syndrome
Prolonged bleeding time, Bruising susceptibility OMIM:613075
Thyrocerebroretinal Syndrome
Thrombocytopenia OMIM:274240
Osteopetrosis, Autosomal Recessive 8
Splenomegaly, Thrombocytopenia, Anemia OMIM:615085
Low Phospholipid-Associated Cholelithiasis
Liver abscess, Diabetes mellitus, Cholangitis, Overweight, Intrahepatic cholestasis, Biliary cirr... ORPHA:69663
Smith-Kingsmore Syndrome
Umbilical hernia, Hypoglycemia, Thrombocytopenia, Large for gestational age OMIM:616638
Immunodeficiency 43
Lung abscess, B lymphocytopenia, Reduced natural killer cell count OMIM:241600
Carpenter Syndrome
Craniosynostosis, Umbilical hernia, Obesity, Polysplenia ORPHA:65759
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
B lymphocytopenia OMIM:614069
Morgagni-Stewart-Morel Syndrome
Diabetes mellitus, Osteoarthritis, Osteoporosis, Obesity, Hyperostosis frontalis interna ORPHA:77296
Noonan Syndrome 12
Lymphopenia, Thrombocytopenia OMIM:618624
Amed Syndrome, Digenic
Acute myeloid leukemia, Leukopenia, Thrombocytopenia, Anemia OMIM:619151
Insulinoma
Nonketotic hypoglycemia, Reactive hypoglycemia, Abnormality of the pancreatic islet cells, Fastin... ORPHA:97279
Polycythemia Vera
Myelofibrosis, Hepatomegaly, Portal hypertension, Portal vein thrombosis, Splenomegaly, Acute leu... ORPHA:729
Babesiosis
Splenomegaly, Leukopenia, Hemolytic anemia, Thrombocytopenia ORPHA:108
Transaldolase Deficiency
Thrombocytopenia, Anemia, Hepatosplenomegaly ORPHA:101028
Congenital Toxoplasmosis
Thrombocytopenia, Anemia ORPHA:858
Beta-Thalassemia
Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Anemia, Thrombocytopenia ORPHA:848
Snakebite Envenomation
Abnormal bleeding, Epistaxis, Intracranial hemorrhage, Gingival bleeding, Ecchymosis, Thrombocyto... ORPHA:449285
Diffuse Neonatal Hemangiomatosis
Thrombocytopenia, Anemia ORPHA:2123
3-Methylglutaconic Aciduria, Type Viii
Jaundice, Failure to thrive, Neonatal hypoglycemia, Neutropenia OMIM:617248
Staphylococcal Necrotizing Pneumonia
Diabetes mellitus, Leukopenia, Leukocytosis, Neutrophilia ORPHA:36238
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Hypoglycemia, Megaloblastic anemia, Jaundice, Neutropenia, Failure to thrive, Thrombocytopenia ORPHA:79282
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Accessory spleen, Severe B lymphocytopenia, Craniosynostosis, Portal hypertension, Absence of sub... OMIM:620005
Vici Syndrome
Failure to thrive, Leukopenia, T lymphocytopenia, Abnormal thymus morphology, Neutropenia, Decrea... OMIM:242840
Isolated Agammaglobulinemia
Anemia, Thrombocytopenia, Abnormal lymphocyte morphology, Abnormality of neutrophils ORPHA:229717
Saul-Wilson Syndrome
Neutropenia OMIM:618150
Diamond-Blackfan Anemia
Acute myeloid leukemia, Small for gestational age, Pure red cell aplasia, Erythroid hypoplasia, R... ORPHA:124
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Failure to thrive, Neutropenia, Thrombocytopenia, Megaloblastic anemia OMIM:277400
Monosomy 13Q34
Insulin resistance, Hepatic steatosis, Obesity ORPHA:96168
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hepatomegaly, Diabetes mellitus, Hypoglycemia, Large for gestational age, Rickets, Glycosuria OMIM:616026
Thalidomide Embryopathy
Radial club hand, Insulin resistance ORPHA:3312
Gitelman Syndrome
Neoplasm of the pancreas, Maternal diabetes, Insulin resistance, Gout, Iron deficiency anemia, Gl... ORPHA:358
Fanconi Anemia, Complementation Group D2
Pancytopenia, Small for gestational age, Annular pancreas, Reticulocytopenia, Anemia, Bone marrow... OMIM:227646
Vitamin B12-Unresponsive Methylmalonic Acidemia
Thrombocytopenia, Leukopenia, Macrocytic anemia, Anemia ORPHA:27
Fetal Gaucher Disease
Pancytopenia, Abnormality of the spleen, Splenomegaly, Intracranial hemorrhage, Thrombocytopenia ORPHA:85212
Cryptogenic Organizing Pneumonia
Leukocytosis, Neutrophilia, Weight loss ORPHA:1302
Moyamoya Disease 6 With Or Without Achalasia
Thrombocytopenia OMIM:615750
Atelis Syndrome 1
Leukopenia, Thrombocytopenia, Anemia OMIM:620184
Systemic Lupus Erythematosus
Hemolytic anemia, Thrombocytopenia, Leukopenia OMIM:152700
Dermatosparaxis Ehlers-Danlos Syndrome
Prolonged bleeding time ORPHA:1901
Thauvin-Robinet-Faivre Syndrome
Inguinal hernia, Transient neutropenia, Large for gestational age, Overgrowth, Tall stature OMIM:617107
Thiamine-Responsive Megaloblastic Anemia Syndrome
Thrombocytopenia, Megaloblastic anemia ORPHA:49827
Psoriasis 14, Pustular
Leukocytosis, Neutrophilia, Oligoarthritis, Cholangitis OMIM:614204
Cidec-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Lipodystrophy, Insulin-resistant diab... ORPHA:435651
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Failure to thrive, Severe B lymphocytopenia, Autoimmune thrombocytopenia, Recurrent hypoglycemia,... ORPHA:293978
Bardet-Biedl Syndrome 1
Diabetes mellitus, Insulin resistance, Biliary tract abnormality, Obesity, Truncal obesity, Abdom... OMIM:209900
Immunodeficiency, Common Variable, 12, With Autoimmunity
Autoimmune hemolytic anemia, Thrombocytopenia OMIM:616576
Selective Igm Deficiency
Decreased proportion of CD4-positive T cells, Fasciitis, Autoimmune thrombocytopenia, Decreased p... ORPHA:331235
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Pancytopenia, Increased mean corpuscular volume, Thrombocytopenia, Megaloblastic anemia OMIM:613839
Autoimmune Polyendocrinopathy Type 4
Osteopenia, Macrocytic anemia, Autoimmune thrombocytopenia, Biliary cirrhosis, Hepatitis, Thymoma... ORPHA:227990
Toxic Epidermal Necrolysis
Weight loss, Anemia, Neutropenia, Pancreatitis, Thrombocytopenia ORPHA:537
Cushing Disease
Diabetes mellitus, Impaired glucose tolerance, Dorsocervical fat pad, Leukocytosis, Osteoporosis,... ORPHA:96253
Aicardi-Goutieres Syndrome 5
Thrombocytopenia OMIM:612952
Abdominal Obesity-Metabolic Syndrome 4
Type II diabetes mellitus, Elevated hemoglobin A1c, Obesity OMIM:618620
Leprechaunism
Reduced subcutaneous adipose tissue, Hepatomegaly, Insulin resistance, Hyperinsulinemia, Recurren... ORPHA:508
Dyskeratosis Congenita, Autosomal Recessive 8
Pancytopenia, Reduced natural killer cell count, B lymphocytopenia, Bone marrow hypocellularity OMIM:620133
Lipodystrophy, Familial Partial, Type 7
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Decreased adip... OMIM:606721
Hermansky-Pudlak Syndrome
Weight loss, Abnormal dental enamel morphology, Neutropenia ORPHA:79430
Thiamine-Responsive Megaloblastic Anemia Syndrome
Sideroblastic anemia, Thiamine-responsive megaloblastic anemia, Thrombocytopenia OMIM:249270
Lysinuric Protein Intolerance
Hepatomegaly, Recurrent fractures, Splenomegaly, Osteoporosis, Anemia, Leukopenia, Truncal obesit... OMIM:222700
Hellp Syndrome
Hemolytic anemia, Decreased mean corpuscular hemoglobin concentration, Cerebral hemorrhage, Prolo... ORPHA:244242
Gamma-Heavy Chain Disease
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocytopenia, Abnorma... ORPHA:100026
Preeclampsia
Thrombocytopenia ORPHA:275555
Heart Defects, Congenital, And Other Congenital Anomalies
Absent gallbladder, Inguinal hernia, Diabetes mellitus, Failure to thrive, Congenital diaphragmat... OMIM:600001
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Sideroblastic anemia, Extramedullary hematopoiesis, Anemia, Increased mean corpuscular volume, Er... OMIM:617021
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Inguinal hernia, Transient neutropenia, Chronic neutropenia, Large for gestational age, Proportio... ORPHA:500095
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Hiatus hernia, Overweight, Persistence of hemoglobin F, Increased size of nasopharyngeal adenoids... OMIM:619769
Autoimmune Polyendocrinopathy Type 3
Osteopenia, Macrocytic anemia, Autoimmune thrombocytopenia, Biliary cirrhosis, Hepatitis, Thymoma... ORPHA:227982
Pyruvate Carboxylase Deficiency
Hepatomegaly, Hyperglycemia, Failure to thrive, Hypoglycemia ORPHA:3008
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Failure ... ORPHA:35078
Braddock-Carey Syndrome 2
Thrombocytopenia OMIM:619981
Hepatic Veno-Occlusive Disease
Hepatomegaly, Jaundice, Increased body weight ORPHA:890
Blue Diaper Syndrome
Recurrent hypoglycemia, Increased body weight, Increased proinsulin:insulin ratio ORPHA:94086
Alg12-Cdg
Recurrent hypoglycemia, Camptodactyly, B lymphocytopenia, Abnormal adipose tissue morphology, Abn... ORPHA:79324
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Hypoglycemia, Cholangitis, Microvesicular hepatic steatosis, Cholestasis, Periportal fibrosis, Re... OMIM:124000
Sweet Syndrome
Acute myeloid leukemia, Neutrophilia, Leukocytosis, Oligoarthritis, Chronic lymphatic leukemia, P... ORPHA:3243
Idiopathic Hypereosinophilic Syndrome
Myelofibrosis, Neutrophilia, Generalized lymphadenopathy, Eosinophilia, Cholangitis, Thrombocytop... ORPHA:3260
Gaucher Disease, Type I
Pancytopenia, Epistaxis, Hypersplenism, Splenomegaly, Anemia, Thrombocytopenia OMIM:230800
Hemophagocytic Lymphohistiocytosis, Familial, 1
Splenomegaly, Anemia, Leukopenia, Prolonged prothrombin time, Hemophagocytosis, Thrombocytopenia OMIM:267700
Immunodeficiency 10
Autoimmune hemolytic anemia, Thrombocytopenia OMIM:612783
Generalized Pustular Psoriasis
Overweight, Leukocytosis, Obesity, Arthritis, Lymphopenia ORPHA:247353
Sengers Syndrome
Thrombocytopenia OMIM:212350
Hemophagocytic Lymphohistiocytosis, Familial, 2
Pancytopenia, Splenomegaly, Hepatosplenomegaly, Anemia, Leukopenia, Prolonged prothrombin time, H... OMIM:603553
Gaisböck Syndrome
Diabetes mellitus, Overweight, Splenomegaly, Increased mean corpuscular hemoglobin concentration,... ORPHA:90041
Down Syndrome
Joint laxity, Abnormality of the lymphatic system, Obesity, Type II diabetes mellitus, Umbilical ... ORPHA:870
Intellectual Developmental Disorder, Autosomal Dominant 54
Small for gestational age, Neutropenia OMIM:617799
Congenital Rubella Syndrome
Splenomegaly, Thrombocytopenia, Anemia ORPHA:290
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Osteopenia, Abnormal T cell subset distribution, Arthritis, B lymphocytopenia, Decreased proporti... ORPHA:221139
Blue Rubber Bleb Nevus
Iron deficiency anemia, Intestinal bleeding, Thrombocytopenia OMIM:112200
Stt3B-Cdg
Thrombocytopenia ORPHA:370924
Acyl-Coa Dehydrogenase 9 Deficiency
Thrombocytopenia, Cerebellar hemorrhage, Prolonged prothrombin time ORPHA:99901
Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome
Generalized joint laxity, Increased body weight ORPHA:589905
Drug-Induced Lupus Erythematosus
Anemia, Thrombocytopenia, Petechiae ORPHA:231111
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Sideroblastic anemia, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, B lymphocytopenia OMIM:616084
Diamond-Blackfan Anemia 1
Macrocytic anemia, Congenital hypoplastic anemia, Reticulocytopenia, Persistence of hemoglobin F,... OMIM:105650
Congenital Disorder Of Glycosylation, Type Ix
Thrombocytopenia OMIM:615597
Dyskeratosis Congenita, Autosomal Recessive 2
Pancytopenia, Thrombocytopenia OMIM:613987
Intermediate Osteopetrosis
Thrombocytopenia, Anemia, Hepatosplenomegaly ORPHA:210110
Ebola Hemorrhagic Fever
Abnormal bleeding, Gastrointestinal hemorrhage, Melena, Leukopenia, Lymphopenia, Thrombocytopenia ORPHA:319218
Senior-Loken Syndrome 9
Osteopenia, Hepatic fibrosis, Obesity, Cholestasis OMIM:616629
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Dorsocervical fat pad, Osteoporosis, Increased body weight, Increased susceptibility to fractures... ORPHA:189427
Tatton-Brown-Rahman Syndrome
Obesity, Proportionate tall stature, Umbilical hernia, Myeloid leukemia, Joint hypermobility ORPHA:404443
Herpes Simplex Virus Encephalitis
Leukocytosis, Neutrophilia ORPHA:1930
Tularemia
Thrombocytopenia, Leukocytosis, Anemia ORPHA:3392
Pneumocystosis
Weight loss, Abnormal neutrophil count ORPHA:723
Boutonneuse Fever
Leukopenia, Thrombocytopenia, Petechiae ORPHA:83313
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
Insulin resistance, Failure to thrive, Small for gestational age, Fasting hypoglycemia ORPHA:96182
Osteopetrosis, Autosomal Recessive 2
Pancytopenia, Extramedullary hematopoiesis, Hepatosplenomegaly, Anemia, Thrombocytopenia OMIM:259710
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Thrombocytopenia, Increased mean platelet volume OMIM:300048
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Large for gestational age, Multiple pancreatic beta-cell adenomas, Recurrent hypoglycemia, Hyperi... ORPHA:79644
Abcd Syndrome
Polycythemia, Large for gestational age OMIM:600501
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Thrombocytopenia, Microangiopathic hemolytic anemia, Anemia OMIM:612924
Paternal Uniparental Disomy Of Chromosome 1
Abnormal dental enamel morphology, Recurrent fractures, Craniosynostosis, Obesity, Episodic hemol... ORPHA:251004
Pseudo-Torch Syndrome 3
Anemia, Leukocytosis, Congenital thrombocytopenia, Cerebral hemorrhage OMIM:618886
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome
Thrombocytopenia, Hepatosplenomegaly ORPHA:210136
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Thrombocytopenia, Microangiopathic hemolytic anemia, Anemia OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Thrombocytopenia, Microangiopathic hemolytic anemia, Anemia OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Thrombocytopenia, Microangiopathic hemolytic anemia, Anemia OMIM:612926
Infantile Liver Failure Syndrome 2
Prolonged prothrombin time OMIM:616483
Neurodevelopmental Disorder With Hearing Loss, Seizures, And Brain Abnormalities
Thrombocytopenia OMIM:616577
Acute Radiation Syndrome
Abnormal bleeding, Lymphopenia, Granulocytopenia, Thrombocytopenia ORPHA:454831
Pituitary Adenoma 4, Acth-Secreting
Impaired glucose tolerance, Osteoporosis, Obesity, Glucose intolerance, Abdominal obesity OMIM:219090
Immunodeficiency 82 With Systemic Inflammation
Decreased proportion of naive T cells, Osteomyelitis, Osteomalacia, Follicular hyperplasia, Splen... OMIM:619381
Cog4-Cdg
Thrombocytopenia, Hepatosplenomegaly ORPHA:263501
Hyper-Igd Syndrome
Neutrophilia, Splenomegaly, Leukocytosis, Lymphadenitis, Hepatosplenomegaly, Lymphadenopathy, Art... OMIM:260920
Gaucher Disease Type 1
Pancytopenia, Hypersplenism, Thrombocytopenia, Splenomegaly, Leukopenia, Gingival bleeding, Bruis... ORPHA:77259
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Hepatomegaly, Inguinal hernia, Severe B lymphocytopenia, Failure to thrive, Biliary hyperplasia, ... ORPHA:83617
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Tracheomalacia, Cervical C2/C3 vertebral fusion, Hyperglycemia, Obesity ORPHA:444077
Hereditary Folate Malabsorption
Pancytopenia, Eosinophilia, Thrombocytopenia, Megaloblastic anemia ORPHA:90045
Congenital Disorder Of Glycosylation, Type Iil
Abnormal bleeding, Splenomegaly, Pancytopenia, Thrombocytopenia OMIM:614576
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Reticulocytosis, Schistocytosis, Microangiopathic hemolytic anemia, Thrombocytopenia, Purpura OMIM:235400
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7
Thrombocytopenia, Lymphopenia, Anemia OMIM:620365
Prolidase Deficiency
Anemia, Thrombocytopenia, Petechiae, Splenomegaly OMIM:170100
Kaposiform Lymphangiomatosis
Abnormal bleeding, Epidural hemorrhage, Epistaxis, Thrombocytopenia, Splenomegaly, Hepatosplenome... ORPHA:464329
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Leukopenia, Thrombocytopenia, Pancytopenia, Anemia OMIM:613845
Zika Virus Disease
Thrombocytopenia, Subcutaneous hemorrhage ORPHA:448237
Griscelli Syndrome
Splenomegaly, Leukopenia, Thrombocytopenia, Abnormality of neutrophils ORPHA:381
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Thrombocytopenia, Microangiopathic hemolytic anemia, Anemia OMIM:612925
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Pancytopenia, Abnormal lymphocyte count, Thrombocytopenia, Abnormal natural killer cell count, He... ORPHA:79124
Aspartylglucosaminuria
Joint laxity, Hepatomegaly, Vacuolated lymphocytes, Hernia, Neutropenia, Pathologic fracture OMIM:208400
Osteopetrosis, Autosomal Recessive 7
Abnormal trabecular bone morphology, Hepatomegaly, Splenomegaly, Osteopetrosis, Anemia OMIM:612301
Hutchinson-Gilford Progeria Syndrome
Limitation of movement at ankles, Joint stiffness, Limited wrist movement, Osteoarthritis, Limita... ORPHA:740
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Inguinal hernia, Hypoglycemia, Small for gestational age, Microvesicular hepatic steatosis, Hyper... OMIM:220111
Thyrotoxic Periodic Paralysis
Postprandial hyperglycemia, Obesity, Weight loss ORPHA:79102
Pseudo-Torch Syndrome 2
Thrombocytopenia, Cerebral hemorrhage, Petechiae OMIM:617397
X-Linked Intellectual Disability, Nascimento Type
Recurrent cutaneous abscess formation, Neutropenia ORPHA:163956
Transaldolase Deficiency
Pancytopenia, Splenomegaly, Hepatosplenomegaly, Anemia, Thrombocytopenia OMIM:606003
Congenital Disorder Of Glycosylation, Type Ih
Thrombocytopenia, Anemia OMIM:608104
Mirage Syndrome
Petechiae, Thrombocytopenia, Intracranial hemorrhage, Leukopenia, Hypoplastic spleen, Lymphopenia... OMIM:617053
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Perianal abscess, Weight loss, Iron deficiency anemia, Arthritis, Lymphocytosis, Thrombocytosis, ... OMIM:301074
Sotos Syndrome
Joint laxity, Tall stature, Increased body weight, Glucose intolerance, Overgrowth, Prolonged neo... OMIM:117550
Sponastrime Dysplasia
Joint laxity, Small for gestational age, Delayed epiphyseal ossification, Generalized joint laxit... ORPHA:93357
Cushing Syndrome Due To Ectopic Acth Secretion
Pancreatic adenocarcinoma, Diabetes mellitus, Impaired glucose tolerance, Dorsocervical fat pad, ... ORPHA:99889
Proprotein Convertase 1/3 Deficiency
Obesity, Hypoinsulinemia, Reactive hypoglycemia OMIM:600955
Wolfram Syndrome 1
Sideroblastic anemia, Thrombocytopenia, Megaloblastic anemia OMIM:222300
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Gastrointestinal hemorrhage, Cerebral hemorrhage, Diffuse alveolar hemorrhage, Hematemesis, Retin... ORPHA:464321
Beemer-Ertbruggen Syndrome
Thrombocytopenia ORPHA:1237
Cog8-Cdg
Spontaneous hematomas, Prolonged prothrombin time ORPHA:95428
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures
Thrombocytopenia OMIM:617710
Diffuse Alveolar Hemorrhage
Thrombocytopenia, Leukocytosis, Anemia ORPHA:90060
Cholesteryl Ester Storage Disease
Bone-marrow foam cells, Hypersplenism, Thrombocytopenia, Splenomegaly, Hepatosplenomegaly, Leukop... OMIM:278000
Leukocyte Adhesion Deficiency Type Ii
Hepatomegaly, Neutrophilia, Small for gestational age, Scarring, Microcytic anemia, Leukocytosis,... ORPHA:99843
Braddock-Carey Syndrome 1
Thrombocytopenia OMIM:619980
Magel2-Related Prader-Willi-Like Syndrome
Osteopenia, Flexion contracture, Osteoporosis, Increased body weight, Abdominal obesity, Type II ... ORPHA:398069
Noonan Syndrome 4
Abnormal bleeding, Bruising susceptibility, Thrombocytopenia OMIM:610733
Thrombotic Thrombocytopenic Purpura, Hereditary
Reticulocytosis, Schistocytosis, Microangiopathic hemolytic anemia, Thrombocytopenia OMIM:274150
Scorpion Envenomation
Glycosuria, Acute pancreatitis, Hyperglycemia ORPHA:466677
Pseudo-Torch Syndrome 1
Splenomegaly, Thrombocytopenia, Petechiae OMIM:251290
Osteopetrosis, Autosomal Recessive 1
Splenomegaly, Thrombocytopenia, Pancytopenia, Anemia OMIM:259700
Noonan Syndrome 9
Prolonged prothrombin time OMIM:616559
Alg8-Cdg
Thrombocytopenia, Anemia ORPHA:79325
Aicardi-Goutieres Syndrome 1
Splenomegaly, Thrombocytopenia, Petechiae, Purpura OMIM:225750
Holocarboxylase Synthetase Deficiency
Thrombocytopenia ORPHA:79242
Neutral Lipid Storage Disease With Ichthyosis
Hepatomegaly, Micronodular cirrhosis, Obesity, Abnormal granulocyte morphology, Hepatic steatosis ORPHA:98907
Familial Mediterranean Fever
Hepatomegaly, Neutrophilia, Splenomegaly, Leukocytosis, Peritonitis, Arthritis OMIM:249100
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Hyperglycemia, Obesity ORPHA:293987
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Septic arthritis, Absent circulating B cells, Enteroviral hepatitis OMIM:307200
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Leukocytosis, Thrombocytopenia ORPHA:83601
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Abnormal bleeding, Thrombocytopenia OMIM:208085
Lig4 Syndrome
Acute lymphoblastic leukemia, Pancytopenia, Thrombocytopenia OMIM:606593
Bile Acid Synthesis Defect, Congenital, 4
Hematochezia, Prolonged prothrombin time OMIM:214950
Combined Immunodeficiency Due To Crac Channel Dysfunction
Splenomegaly, Hemolytic anemia, Thrombocytopenia ORPHA:169090
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Leukopenia, Thrombocytopenia OMIM:301056
Hoyeraal-Hreidarsson Syndrome
Abnormal leukocyte morphology, Thrombocytopenia, Anemia ORPHA:3322
Lujo Hemorrhagic Fever
Excessive bleeding after a venipuncture, Leukocytosis, Subconjunctival hemorrhage, Leukopenia, Ec... ORPHA:319213
Immunodeficiency 40
T lymphocytopenia, Thrombocytopenia OMIM:616433
Dyskeratosis Congenita, Autosomal Dominant 1
Aplastic anemia, Anemia, Leukopenia, Increased mean corpuscular volume, Lymphopenia, Thrombocytop... OMIM:127550
Mevalonic Aciduria
Normocytic hypoplastic anemia, Fluctuating splenomegaly, Leukocytosis, Hepatosplenomegaly, Anemia... OMIM:610377
Congenital Disorder Of Glycosylation, Type Iig
Thrombocytopenia, Giant platelets, Anemia OMIM:611209
Dyskeratosis Congenita, Autosomal Dominant 3
Leukopenia, Pancytopenia, Aplastic anemia, Thrombocytopenia OMIM:613990
Maternal Uniparental Disomy Of Chromosome 6
Thrombocytopenia ORPHA:96181
Pmm2-Cdg
Osteopenia, Joint laxity, Multiple joint contractures, Lipodystrophy, Insulin resistance, Abnorma... ORPHA:79318
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Hypochromic microcytic anemia, Thrombocytopenia ORPHA:3240
Infantile Liver Failure Syndrome 3
Splenomegaly, Prolonged prothrombin time OMIM:618641
Gaucher Disease, Perinatal Lethal
Petechiae, Thrombocytopenia, Splenomegaly, Hepatosplenomegaly, Anemia, Purpura OMIM:608013
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Decreased mean platelet volume, Hematochezia, Subconjunctival hemorrhage, Lymphocytosis, Thromboc... OMIM:617718
Mitochondrial Complex I Deficiency, Nuclear Type 20
Thrombocytopenia OMIM:611126
Pediatric Systemic Lupus Erythematosus
Leukopenia, Lymphopenia, Microangiopathic hemolytic anemia, Thrombocytopenia ORPHA:93552
Dyskeratosis Congenita, Autosomal Recessive 1
Pancytopenia, Aplastic anemia, Thrombocytopenia OMIM:224230
Adams-Oliver Syndrome
Gastrointestinal hemorrhage, Leukopenia, Thrombocytopenia ORPHA:974
Autosomal Recessive Hypophosphatemic Rickets
Abnormal trabecular bone morphology, Increased bone mineral density, Osteomalacia, Craniosynostos... ORPHA:289176
Smith-Magenis Syndrome
Increased body weight OMIM:182290
Rift Valley Fever
Abnormal bleeding, Hematemesis, Thrombocytopenia, Retinal hemorrhage, Melena, Gingival bleeding, ... ORPHA:319251
Avian Influenza
Leukopenia, Lymphopenia, Thrombocytopenia ORPHA:454836
Osteopetrosis, Autosomal Recessive 5
Pancytopenia, Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Hypochromic microcytic an... OMIM:259720
Vexas Syndrome
Macrocytic anemia, Thrombocytopenia OMIM:301054
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Osteopenia, Obesity, Dentinogenesis imperfecta, Type I diabetes mellitus OMIM:619269
Bile Acid Synthesis Defect, Congenital, 3
Hematochezia, Splenomegaly, Prolonged prothrombin time OMIM:613812
Sialuria
Prolonged prothrombin time, Hepatosplenomegaly ORPHA:3166
Combined Oxidative Phosphorylation Deficiency 14
Thrombocytopenia, Anemia OMIM:614946
Immunodeficiency 22
Decreased proportion of CD4-positive helper T cells, Thrombocytopenia, Anemia OMIM:615758
Congenital Bile Acid Synthesis Defect Type 2
Prolonged prothrombin time, Extramedullary hematopoiesis ORPHA:79303
Cholestasis, Progressive Familial Intrahepatic, 5
Prolonged prothrombin time OMIM:617049
Proteasome-Associated Autoinflammatory Syndrome 3
Splenomegaly, Thrombocytopenia, Lymphopenia, Anemia OMIM:617591
Celiac Disease, Susceptibility To, 1
Iron deficiency anemia, Prolonged prothrombin time, Thrombocytosis, Macrocytic anemia OMIM:212750
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Normochromic anemia, Thrombocytopenia OMIM:618775
Bone Fragility With Contractures, Arterial Rupture, And Deafness
Bruising susceptibility, Thrombocytopenia OMIM:612394
Good Syndrome
Abnormal leukocyte morphology, Thrombocytopenia, Anemia ORPHA:169105
Recon Progeroid Syndrome
Thrombocytopenia, Anemia OMIM:620370
Classical Ehlers-Danlos Syndrome
Ecchymosis, Prolonged bleeding time, Bruising susceptibility ORPHA:287
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type
Increased body weight OMIM:300860
Marburg Hemorrhagic Fever
Abnormal bleeding, Reticulocytosis, Lymphopenia, Excessive bleeding after a venipuncture, Thrombo... ORPHA:99826
Catastrophic Antiphospholipid Syndrome
Coombs-positive hemolytic anemia, Microangiopathic hemolytic anemia, Thrombocytopenia ORPHA:464343
Fanconi Anemia, Complementation Group B
Aplastic anemia, Thrombocytopenia OMIM:300514
Nijmegen Breakage Syndrome
T lymphocytopenia, Autoimmune hemolytic anemia, B lymphocytopenia, Thrombocytopenia OMIM:251260
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Atypical scarring of skin, Anemia, Neutropenia ORPHA:95455
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Prolonged prothrombin time, Hepatosplenomegaly ORPHA:367
Hypermethioninemia Due To Adenosine Kinase Deficiency
Prolonged prothrombin time OMIM:614300
Crimean-Congo Hemorrhagic Fever
Pancytopenia, Neutrophilia, Epistaxis, Diffuse alveolar hemorrhage, Hematemesis, Splenomegaly, He... ORPHA:99827
Steinert Myotonic Dystrophy
Cholelithiasis, Insulin resistance, Diabetes mellitus, Hyperinsulinemia ORPHA:273
Ivic Syndrome
Leukocytosis, Thrombocytopenia ORPHA:2307
Liver Failure, Infantile, Transient
Prolonged prothrombin time OMIM:613070
Takenouchi-Kosaki Syndrome
Thrombocytopenia, Increased mean platelet volume OMIM:616737
Overlap Myositis
Leukopenia, Thrombocytopenia ORPHA:206572
Diamond-Blackfan Anemia 21
Erythroid hypoplasia, Thrombocytopenia, Anemia OMIM:620072
Cardiac-Urogenital Syndrome
Accessory spleen, Prolonged bleeding time OMIM:618280
16Q24.3 Microdeletion Syndrome
Increased mean corpuscular volume, Thrombocytopenia ORPHA:261250
Bacterial Toxic-Shock Syndrome
Ecchymosis, Increased circulating metamyelocyte count, Increased circulating myelocyte count, Thr... ORPHA:36234
3-Hydroxy-3-Methylglutaric Aciduria
Leukocytosis, Leukopenia, Prolonged prothrombin time, Thrombocytosis, Anemia ORPHA:20
Yellow Fever
Abnormal bleeding, Neutrophilia, Excessive bleeding after a venipuncture, Hematemesis, Leukocytos... ORPHA:99829
Beckwith-Wiedemann Syndrome
Omphalocele, Hepatomegaly, Inguinal hernia, Tall stature, Hypoglycemia, Congenital diaphragmatic ... ORPHA:116
Hemorrhagic Fever-Renal Syndrome
Epistaxis, Hematemesis, Thrombocytopenia, Leukocytosis, Intracranial hemorrhage, Melena, Subconju... ORPHA:340
Caroli Syndrome
Abnormal bleeding, Hematemesis, Hypersplenism, Leukocytosis, Melena, Leukopenia, Thrombocytopenia ORPHA:480520
Farber Disease
Thrombocytopenia, Anemia, Hepatosplenomegaly ORPHA:333
Holocarboxylase Synthetase Deficiency
Thrombocytopenia OMIM:253270
Combined Oxidative Phosphorylation Deficiency 55
Thrombocytopenia, Anemia OMIM:619743
Fanconi Anemia, Complementation Group F
Leukopenia, Thrombocytopenia, Anemia OMIM:603467
Shigellosis
Leukocytosis, Microangiopathic hemolytic anemia, Splenic abscess, Thrombocytopenia, Purpura ORPHA:810
Adrenocortical Carcinoma
Diabetes mellitus, Increased body weight, Weight loss ORPHA:1501
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Thrombocytopenia ORPHA:457351
Atelis Syndrome 2
Vitreous hemorrhage, Thrombocytopenia, Anemia OMIM:620185
21Q22.11Q22.12 Microdeletion Syndrome
Thrombocytopenia, Anemia ORPHA:261323
Lathosterolosis
Thrombocytopenia, Anisopoikilocytosis, Abnormal platelet morphology ORPHA:46059
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1
Myelofibrosis, Joint laxity, Inguinal hernia, Large for gestational age, Failure to thrive OMIM:607721
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Thrombocytopenia, Intestinal bleeding, Anemia OMIM:612199
Wars2-Related Combined Oxidative Phosphorylation Defect
Thrombocytopenia ORPHA:572798
Stevens-Johnson Syndrome
Gastrointestinal hemorrhage, Thrombocytopenia, Anemia, Abnormality of neutrophils ORPHA:36426
Q Fever
Splenomegaly, Hepatosplenomegaly, Anemia, Thrombocytopenia, Purpura ORPHA:781
Gaucher Disease, Type Ii
Splenomegaly, Thrombocytopenia, Anemia OMIM:230900
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Reticulocytosis, Leukocytosis, Schistocytosis, Microangiopathic hemolytic anemia, Thrombocytopenia ORPHA:90038
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Splenomegaly, Thrombocytopenia OMIM:251880
Alström Syndrome
Hepatomegaly, Dorsocervical fat pad, Portal hypertension, Splenomegaly, Insulin resistance, Hyper... ORPHA:64
Congenital Erythropoietic Porphyria
Abnormal bleeding, Hemolytic anemia, Reticulocytosis, Anisocytosis, Splenomegaly, Leukopenia, Poi... ORPHA:79277
Mogs-Cdg
Thrombocytopenia, Hepatosplenomegaly ORPHA:79330
Immunodeficiency 47
Normocytic anemia, Accessory spleen, Splenomegaly, Leukopenia, Thrombocytopenia OMIM:300972
Ivic Syndrome
Leukocytosis, Thrombocytopenia OMIM:147750
S-Adenosylhomocysteine Hydrolase Deficiency
Prolonged prothrombin time ORPHA:88618
Aicardi-Goutieres Syndrome 7
Hemolytic anemia, Pancytopenia, Hematemesis, Splenomegaly, Hematochezia, Anemia, Thrombocytopenia OMIM:615846
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Normochromic anemia, Thrombocytopenia OMIM:254900
Thrombocytopenia-Absent Radius Syndrome
Thrombocytopenia ORPHA:3320
Acute Liver Failure
Abnormal bleeding, Gastrointestinal hemorrhage, Intracranial hemorrhage, Prolonged prothrombin ti... ORPHA:90062
Congenital Disorder Of Glycosylation, Type Ia
Thrombocytosis, Prolonged prothrombin time OMIM:212065
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Leukopenia, Thrombocytopenia, Anemia, Hepatosplenomegaly ORPHA:505248
Congenital Disorder Of Glycosylation, Type Iiw
Microcytic anemia, Splenomegaly, Anemia, Prolonged prothrombin time, Bleeding with minor or no tr... OMIM:619525
Dubowitz Syndrome
Acute lymphoblastic leukemia, Thrombocytopenia, Anemia, Abnormality of neutrophils ORPHA:235
Pruritic Urticarial Papules And Plaques Of Pregnancy
Increased body weight ORPHA:64745
Gaucher Disease Type 3
Splenomegaly, Thrombocytopenia, Pancytopenia, Anemia ORPHA:77261
Neuroleptic Malignant Syndrome
Thrombocytosis, Leukocytosis, Thrombocytopenia ORPHA:94093
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Decreased hemoglobin concentration, Thrombocytopenia OMIM:619005
Thrombocytopenia-Absent Radius Syndrome
Eosinophilia, Leukocytosis, Prolonged bleeding following circumcision, Hepatosplenomegaly, Anemia... OMIM:274000
Alport Syndrome 1, X-Linked
Thrombocytopenia OMIM:301050
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Intraventricular hemorrhage, Prolonged prothrombin time OMIM:619055
Tangier Disease
Thrombocytopenia, Anemia, Hepatosplenomegaly ORPHA:31150
Combined Oxidative Phosphorylation Deficiency 37
Prolonged prothrombin time OMIM:618329
Fibular Hemimelia
Thrombocytopenia ORPHA:93323
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Prolonged prothrombin time ORPHA:71212
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Intracranial hemorrhage, Thrombocytopenia, Anemia ORPHA:163979
Dyskeratosis Congenita
Anemia, Thrombocytopenia, Abnormality of neutrophils, Splenomegaly ORPHA:1775
Wilson Disease
Splenomegaly, Hemolytic anemia, Thrombocytopenia, Anemia OMIM:277900
Brucellosis
Hypersplenism, Thrombocytopenia, Leukocytosis, Splenomegaly, Leukopenia, Thrombocytosis, Anemia, ... ORPHA:1304
Tick-Borne Encephalitis
Leukopenia, Leukocytosis, Thrombocytopenia ORPHA:297
Abetalipoproteinemia
Abnormal bleeding, Reticulocytosis, Acanthocytosis, Prolonged prothrombin time, Anemia ORPHA:14
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Splenomegaly, Prolonged prothrombin time, Polycythemia ORPHA:309854
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Spontaneous, recurrent epistaxis, Pancytopenia, Abnormality of the spleen, Thrombocytopenia, Sple... ORPHA:2072
Paroxysmal Nocturnal Hemoglobinuria
Hemolytic anemia, Reticulocytosis, Pancytopenia, Abnormal erythrocyte enzyme level, Thrombocytope... ORPHA:447
Tyrosinemia, Type I
Gastrointestinal hemorrhage, Splenomegaly, Melena, Prolonged prothrombin time, Anemia OMIM:276700
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Splenomegaly, Thrombocytopenia OMIM:301072
Osteopetrosis With Renal Tubular Acidosis
Pancytopenia, Anemia, Leukopenia, Elliptocytosis, Thrombocytopenia ORPHA:2785
Immunodeficiency 87 And Autoimmunity
Decreased proportion of CD4-positive T cells, Hemolytic anemia, Lymphopenia, Autoimmune hemolytic... OMIM:619573
Cornelia De Lange Syndrome 1
Thrombocytopenia OMIM:122470
Gaucher Disease
Abnormal bleeding, Pancytopenia, Splenomegaly, Anemia, Gingival bleeding, Thrombocytopenia ORPHA:355
Nijmegen Breakage Syndrome
Hemolytic anemia, Autoimmune hemolytic anemia, Thrombocytopenia, Acute leukemia ORPHA:647
Primary Sjögren Syndrome
Normocytic anemia, Leukopenia, Normochromic anemia, Decreased proportion of CD4-positive helper T... ORPHA:289390
Porphyria, Congenital Erythropoietic
Splenomegaly, Hemolytic anemia, Thrombocytopenia OMIM:263700
Congenital Disorder Of Glycosylation, Type It
Prolonged prothrombin time OMIM:614921
Lysinuric Protein Intolerance
Abnormal bleeding, Hepatosplenomegaly, Anemia, Leukopenia, Hemophagocytosis, Thrombocytopenia ORPHA:470
Isolated Biliary Atresia
Splenomegaly, Prolonged prothrombin time ORPHA:30391
Deeah Syndrome
Decreased hemoglobin concentration, Thrombocytopenia OMIM:619004
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Thrombocytopenia, Increased mean platelet volume ORPHA:487796
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To
Prolonged prothrombin time OMIM:311250
22Q11.2 Deletion Syndrome
Gastrointestinal hemorrhage, Abnormality of thrombocytes, Splenomegaly, Hypoplasia of the thymus,... ORPHA:567
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Abnormal bleeding, Gastrointestinal hemorrhage, Hepatosplenomegaly, Prolonged prothrombin time, A... ORPHA:247598
Jacobsen Syndrome
Thrombocytopenia OMIM:147791
Chronic Visceral Acid Sphingomyelinase Deficiency
Abnormal bleeding, Autoimmune thrombocytopenia, Hypersplenism, Splenomegaly, Acute promyelocytic ... ORPHA:77293
Ogden Syndrome
Iron deficiency anemia, Polycythemia, Thrombocytopenia OMIM:300855
Fanconi Anemia
Pyridoxine-responsive sideroblastic anemia, Leukopenia, Anemia, Thrombocytopenia ORPHA:84
Dyskeratosis Congenita, X-Linked
Acute myeloid leukemia, Pancytopenia, Anemia, Leukopenia, Thrombocytopenia OMIM:305000
Systemic Lupus Erythematosus
Leukopenia, Hemolytic anemia, Thrombocytopenia ORPHA:536
Infection-Related Hemolytic Uremic Syndrome
Hemolytic anemia, Leukocytosis, Thrombocytopenia ORPHA:544482
Jacobsen Syndrome
Thrombocytopenia ORPHA:2308
Oculocerebrorenal Syndrome Of Lowe
Anemia, Thrombocytopenia ORPHA:534
Hardikar Syndrome
Hematemesis, Splenomegaly, Hypersplenism, Hepatosplenomegaly, Thrombocytopenia OMIM:301068
Autosomal Recessive Polycystic Kidney Disease
Gastrointestinal hemorrhage, Hypersplenism, Splenomegaly, Hepatosplenomegaly, Thrombocytopenia ORPHA:731
Exercise-Induced Malignant Hyperthermia
Abnormal bleeding, Thrombocytopenia ORPHA:466650
Osteogenesis Imperfecta
Thrombocytopenia, Bruising susceptibility, Cerebral hemorrhage ORPHA:666
Primary Sclerosing Cholangitis
Abnormal eosinophil morphology, Splenomegaly, Hepatosplenomegaly, Prolonged prothrombin time, His... ORPHA:171
Roberts Syndrome
Thrombocytopenia ORPHA:3103
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Splenomegaly, Prolonged prothrombin time ORPHA:404454
Leptospirosis
Subconjunctival hemorrhage, Retinal hemorrhage, Thrombocytopenia, Pulmonary hemorrhage ORPHA:509
Proteasome-Associated Autoinflammatory Syndrome 1
Splenomegaly, Thrombocytopenia, Microcytic anemia OMIM:256040
Aicardi-Goutières Syndrome
Neonatal alloimmune thrombocytopenia, Chronic lymphatic leukemia, Hepatosplenomegaly ORPHA:51
Sarcoidosis
Hemolytic anemia, Eosinophilia, Increased T cell count, Anemia, Leukopenia, Thrombocytopenia ORPHA:797
Noonan Syndrome 1
Abnormal bleeding, Amegakaryocytic thrombocytopenia, Juvenile myelomonocytic leukemia, Bruising s... OMIM:163950
Liver Disease, Severe Congenital
Thrombocytopenia, Splenomegaly, Leukopenia, Lymphocytosis, Anemia OMIM:619991
Igg4-Related Dacryoadenitis And Sialadenitis
Thrombocytopenia ORPHA:79078
Digeorge Syndrome
Splenomegaly, Thrombocytopenia, Hypoplasia of the thymus, Anemia OMIM:188400
Carney Complex
Neoplasm of the pancreas, Dorsocervical fat pad, Increased body weight, Abdominal obesity, Hepato... ORPHA:1359

Histopathology

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

There is no histopathology data for Mfap2

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Mfap2.

There are 3 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Contribution of metabolic disease to bone fragility in MAGP1-deficient mice. Matrix biology : journal of the International Society for Matrix Biology (March 2018) Mfap2tm1c(KOMP)Wtsi Mfap2tm1a(KOMP)Wtsi 29519758
Marrow Adipose Tissue Expansion Coincides with Insulin Resistance in MAGP1-Deficient Mice. Frontiers in endocrinology (June 2016) Mfap2tm1a(KOMP)Wtsi PMC4928449
Characterization of metabolic health in mouse models of fibrillin-1 perturbation. Matrix biology : journal of the International Society for Matrix Biology (February 2016) Mfap2tm1a(KOMP)Wtsi PMC4992667

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Mfap2tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Mfap2tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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