Gene Summary

Name:
zinc finger protein 760
Synonyms:
N/A

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
increased hemoglobin content Zfp760tm1a(EUCOMM)Hmgu HET Early adult 7.37×10-06
thrombocytopenia Zfp760tm1a(EUCOMM)Hmgu HET Early adult 1.43×10-05
increased circulating calcium level Zfp760tm1a(EUCOMM)Hmgu HET   Early adult 2.30×10-05
increased erythrocyte cell number Zfp760tm1a(EUCOMM)Hmgu HET Early adult 1.39×10-06
increased hematocrit Zfp760tm1a(EUCOMM)Hmgu HET Early adult 3.27×10-06
increased circulating serum albumin level Zfp760tm1a(EUCOMM)Hmgu HET Early adult 3.61×10-08
increased circulating alkaline phosphatase level Zfp760tm1a(EUCOMM)Hmgu HET Early adult 1.67×10-07
increased circulating total protein level Zfp760tm1a(EUCOMM)Hmgu HET   Early adult 5.44×10-05
decreased body weight Zfp760tm1a(EUCOMM)Hmgu HET Early adult 5.62×10-07
decreased IgE level Zfp760tm1a(EUCOMM)Hmgu HET   Early adult 1.24×10-05

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Zfp760 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 Zfp760 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Hemoglobin E-Beta-Thalassemia Syndrome
Increased circulating ferritin concentration, Anemia, Abnormal hemoglobin ORPHA:231249
Polycythemia Vera
Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Thrombocytosis, ... OMIM:263300
Hemoglobin D Disease
Decreased mean corpuscular volume, Abnormal hemoglobin, HbS hemoglobin, Splenomegaly, Reduced alp... ORPHA:90039
Erythrocytosis, Familial, 3
Increased red blood cell mass, Increased hemoglobin, Increased hematocrit OMIM:609820
Erythrocytosis, Familial, 5
Polycythemia, Increased hemoglobin, Increased hematocrit OMIM:617907
Multiple Myeloma
Increased circulating IgA level, Splenomegaly, Hyperproteinemia, Increased circulating IgG level,... ORPHA:29073
Erythrocytosis, Familial, 4
Polycythemia, Increased hemoglobin, Increased hematocrit OMIM:611783
Erythrocytosis, Familial, 6
Polycythemia, Increased hemoglobin, Increased hematocrit OMIM:617980
Hemophagocytic Syndrome Associated With An Infection
Increased circulating ferritin concentration, Neutropenia, Abnormal T cell subset distribution, H... ORPHA:158048
Histiocytosis, Familial Lipochrome
Increased alpha-globulin, Increased circulating antibody level, Histiocytosis OMIM:235900
Erythrocytosis, Familial, 7
Polycythemia, Increased hematocrit OMIM:617981
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency
Decreased circulating IgG level, Hypoalbuminemia, Hypoproteinemia, Neutropenia OMIM:600351
Dehydrated Hereditary Stomatocytosis
Increased circulating ferritin concentration, Anemia of inadequate production, Increased mean cor... ORPHA:3202
Erythrocytosis, Familial, 1
Increased red blood cell mass, Increased hemoglobin, Increased hematocrit, Splenomegaly OMIM:133100
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Increased circulating antibody level, Failure to thrive, Splenomegaly, Extramedullary hematopoies... OMIM:615285
Diffuse Neonatal Hemangiomatosis
Anemia, Thrombocytopenia, Hypercalcemia ORPHA:2123
Anemia, Congenital Dyserythropoietic, Type Iv
Circulating nucleated red blood cells, Anemia of inadequate production, Hyperbilirubinemia, Splen... OMIM:613673
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal hemoglobin, Splenomegaly, Abnormal platelet function, Anemia, Thrombocytopenia ORPHA:231393
Anemia, Sideroblastic, 5
Hypochromic microcytic anemia, Neutropenia, Reduced hematocrit, Anemia, Thrombocytopenia OMIM:619523
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive
Increased circulating interleukin 6 concentration, Decreased circulating IgG level, Decreased cir... OMIM:618944
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Abnormal reticulocyte morphology, Anisocytosis, Macrocytic anemia, Poikilocytosis, Increased hemo... OMIM:300835
Rhabdoid Tumor
Weight loss, Anemia, Thrombocytopenia, Hypercalcemia ORPHA:69077
Erythrocytosis, Familial, 2
Increased red blood cell mass, Failure to thrive, Increased hemoglobin, Increased hematocrit OMIM:263400
Gaisböck Syndrome
Increased hematocrit, Hyperproteinemia, Elevated plasma cell count, Increased circulating renin l... ORPHA:90041
Focal Segmental Glomerulosclerosis 1
Anemia, Hyperlipidemia, Hypoalbuminemia OMIM:603278
Immunodeficiency 27A
Histiocytosis, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Increased circulating IgG level, T... OMIM:209950
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Anemia, Hypercalcemia ORPHA:2668
Refractory Celiac Disease
Hypomagnesemia, Hypophosphatemia, Hypocalcemia, Hypoproteinemia, Increased proportion of HLA DR+ ... ORPHA:398063
Lymphangiectasia, Intestinal
Neonatal hypoproteinemia, Decreased circulating IgG level, Lymphopenia OMIM:152800
Primary Intestinal Lymphangiectasia
Hypomagnesemia, Hypocalcemia, Lymphopenia, Decreased circulating IgA level, Hypoproteinemia, Decr... ORPHA:90362
Thrombocytopenic Purpura, Autoimmune
Thrombocytopenia OMIM:188030
Omenn Syndrome
Failure to thrive, Hypoproteinemia, Splenomegaly, Eosinophilia, Hypoplasia of the thymus, Severe ... OMIM:603554
Enterokinase Deficiency
Failure to thrive, Hypoproteinemia OMIM:226200
Ulna Metaphyseal Dysplasia Syndrome
Hypercalcemia OMIM:191420
Thrombocytopenia 2
Thrombocytopenia, Leukocytosis OMIM:188000
Adenosine Triphosphate, Elevated, Of Erythrocytes
Polycythemia, Reduced erythrocyte 2,3-diphosphoglycerate concentration OMIM:102900
Trypsinogen Deficiency
Failure to thrive, Hypoproteinemia OMIM:614044
Hemoglobin-Delta locus
Anemia, Imbalanced hemoglobin synthesis OMIM:142000
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Decreased circulating antibody level, Lymphopenia, Hypoproteinemia ORPHA:1116
Autoinflammation With Infantile Enterocolitis
Increased circulating ferritin concentration, Failure to thrive, Elevated circulating C-reactive ... OMIM:616050
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
Hypocalcemia, T lymphocytopenia DECIPHER:16
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Increased circulating ferritin concentration, Splenomegaly, Anemia, Anisocytosis, Poikilocytosis,... ORPHA:766
Tempi Syndrome
Polycythemia, Increased circulating IgG level, Increased hematocrit ORPHA:284227
Malaria
Anemia, Thrombocytopenia, Elevated circulating C-reactive protein concentration, Hyperbilirubinemia ORPHA:673
Lymphoproliferative Syndrome, X-Linked, 1
Neutropenia, Elevated circulating C-reactive protein concentration, Lymphocytosis, Hemophagocytos... OMIM:308240
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Increased circulating ferritin concentration, Hemophagocytosis, Splenomegaly, Abnormal natural ki... OMIM:613101
Hypophosphatasia
Anemia, Failure to thrive in infancy, Hypercalcemia ORPHA:436
Leishmaniasis
Increased circulating antibody level, Splenomegaly, Leukopenia, Abnormal macrophage morphology, W... ORPHA:507
Immunodeficiency 43
Decreased circulating IgG level, Hypoalbuminemia, Hypoproteinemia OMIM:241600
Blue Diaper Syndrome
Hypercalcemia, Abnormal circulating tryptophan concentration OMIM:211000
Bleeding Disorder, Platelet-Type, 9
Thrombocytopenia OMIM:614200
Hemophagocytic Lymphohistiocytosis, Familial, 1
Increased circulating ferritin concentration, Failure to thrive, Hypoproteinemia, Increased LDL c... OMIM:267700
Alpha-Heavy Chain Disease
Anemia, Hypocalcemia, Dysgammaglobulinemia, Splenomegaly ORPHA:100025
Adamantinoma
Hypercalcemia ORPHA:55881
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Increased circulating ferritin concentration, Decreased mean corpuscular volume, Hypochromia, Ane... OMIM:205950
Erythroderma, Lethal Congenital
Failure to thrive, Hypoalbuminemia OMIM:227090
Thrombocytopenia, Cyclic
Cyclic neutropenia, Thrombocytopenia, Neutropenia OMIM:188020
Atypical Hemolytic Uremic Syndrome
Decreased serum complement factor B, Decreased serum complement factor I, Complement deficiency, ... ORPHA:2134
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Transcobalamin Deficiency
Decreased circulating IgA level, Neutropenia, Lymphopenia, Decreased circulating IgG level, Decre... ORPHA:859
Thrombocytopenia 7
Impaired collagen-induced platelet aggregation, Impaired ristocetin-induced platelet aggregation,... OMIM:619130
Cholestasis, Progressive Familial Intrahepatic, 10
Failure to thrive, Splenomegaly, Increased total bilirubin, Conjugated hyperbilirubinemia, Hypoal... OMIM:619868
Congenital Amegakaryocytic Thrombocytopenia
Anemia, Abnormal hemoglobin, Thrombocytopenia ORPHA:3319
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Hypercalcemia, Infantile, 2
Failure to thrive, Hypophosphatemia, Hypercalcemia OMIM:616963
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hypoproteinemia, Iron deficiency anemia, Thrombocytosis, Decreased circulating antibody level, Hy... OMIM:226300
Immunodeficiency 103, Susceptibility To Fungal Infections
Abnormal proportion of CD8-positive T cells, Abnormal B cell count, Decreased serum iron, Hypereo... OMIM:212050
Hemophagocytic Lymphohistiocytosis, Familial, 2
Increased circulating ferritin concentration, Failure to thrive, Hypoproteinemia, Hemophagocytosi... OMIM:603553
Hyperbilirubinemia, Shunt, Primary
Anemia of inadequate production, Hyperbilirubinemia, Splenomegaly, Reticulocytosis, Erythroid hyp... OMIM:237800
Hemangioma-Thrombocytopenia Syndrome
Microangiopathic hemolytic anemia, Thrombocytopenia, Hyperkalemia OMIM:141000
Acute Myelomonocytic Leukemia
Leukocytosis, Eosinophilia, Weight loss, Anemia, Thrombocytopenia ORPHA:517
Refractory Anemia With Excess Blasts
Anemia of inadequate production, Leukocytosis, Abnormal mean corpuscular volume, Abnormal circula... ORPHA:86839
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Lymphopenia, Hypoproteinemia OMIM:207731
Hemoglobin H Disease
Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin, Splenomegaly OMIM:613978
Cernunnos-Xlf Deficiency
Lymphopenia, B lymphocytopenia, T lymphocytopenia, Decreased circulating antibody level, Anemia, ... ORPHA:169079
Fanconi Anemia, Complementation Group V
Elevated alpha-fetoprotein, Neutropenia, Bone marrow hypocellularity, Anemia, Thrombocytopenia OMIM:617243
Beta-Thalassemia, Dominant Inclusion Body Type
Splenomegaly, Persistence of hemoglobin F, Erythrocyte inclusion bodies, Microcytic anemia, Decre... OMIM:603902
Diarrhea 7, Protein-Losing Enteropathy Type
Failure to thrive, Hyperlipidemia, Hypoalbuminemia, Hypercholesterolemia OMIM:615863
Ménétrier Disease
Hypochromic microcytic anemia, Weight loss, Hypoalbuminemia, Hypoproteinemia ORPHA:2494
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Amegakaryocytic thrombocytopenia ORPHA:71289
Hemophagocytic Lymphohistiocytosis, Familial, 4
Increased circulating ferritin concentration, Hemophagocytosis, Splenomegaly, Hypertriglyceridemi... OMIM:603552
Hypermanganesemia With Dystonia 1
Increased total iron binding capacity, Hypermanganesemia, Unconjugated hyperbilirubinemia, Polycy... OMIM:613280
Amegakaryocytic Thrombocytopenia, Congenital
Thrombocytopenia, Amegakaryocytic thrombocytopenia, Pancytopenia OMIM:604498
Immunodeficiency 69
Increased circulating ferritin concentration, Failure to thrive, Leukocytosis, Splenomegaly, Hepa... OMIM:618963
Progressive Familial Intrahepatic Cholestasis
Abnormality of thrombocytes, Hypocalcemia, Failure to thrive, Splenomegaly ORPHA:172
Immunodeficiency 89 And Autoimmunity
Reduced circulating interleukin 27 concentration, Elevated circulating C-reactive protein concent... OMIM:619632
Immunodeficiency 46
Failure to thrive, Decreased circulating antibody level, Intermittent thrombocytopenia, Neutropen... OMIM:616740
Wiskott-Aldrich Syndrome 2
Decreased proportion of CD8-positive T cells, Thrombocytopenia, Defective T cell proliferation, R... OMIM:614493
Immunodeficiency With Hyper-Igm, Type 3
Decreased circulating IgA level, Decreased circulating IgG level, Impaired memory B cell generati... OMIM:606843
Hemoglobin E Disease
Hypochromia, Anemia of inadequate production, Abnormal hemoglobin, Decreased mean corpuscular vol... ORPHA:2133
Bleeding Disorder, Platelet-Type, 16
Impaired platelet aggregation, Macrothrombocytopenia, Giant platelets, Platelet anisocytosis, Ane... OMIM:187800
Congenital Analbuminemia
Increased circulating antibody level, Hyperlipidemia, Hypoproteinemia, Small for gestational age,... ORPHA:86816
Niemann-Pick Disease, Type B
Sea-blue histiocytosis, Increased LDL cholesterol concentration, Splenomegaly, Decreased HDL chol... OMIM:607616
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Anemia, Splenomegaly ORPHA:46532
Eosinophilia, Familial
Anemia, Eosinophilia, Thrombocytopenia, Leukocytosis OMIM:131400
Beemer Lethal Malformation Syndrome
Thrombocytopenia OMIM:209970
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Methemoglobinemia, Polycythemia OMIM:250800
Hyperparathyroidism 1
Hypercalcemia OMIM:145000
Lymphoproliferative Syndrome 1
Increased circulating ferritin concentration, Elevated circulating C-reactive protein concentrati... OMIM:613011
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant
Macrothrombocytopenia OMIM:619840
Lymphoid System Deterioration, Progressive
Decreased circulating total IgM, Abnormal T cell morphology, Lymphopenia, Decreased circulating I... OMIM:247630
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Microcytic anemia, Abnormal hemoglobin, Splenomegaly ORPHA:231242
Red Cell Phospholipid Defect With Hemolysis
Reticulocytosis, Hyperbilirubinemia, Splenomegaly OMIM:179700
Agammaglobulinemia 8B, Autosomal Recessive
Failure to thrive, Decreased circulating IgA level, Decreased circulating IgG level, Decreased pr... OMIM:619824
Acetophenetidin Sensitivity
Hemolytic anemia, Methemoglobinemia OMIM:200300
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Decreased circulating IgG level, Abnormally low T cell receptor excision circle level, Decreased ... OMIM:618987
Triokinase And Fmn Cyclase Deficiency Syndrome
Microcytic anemia, Hypoalbuminemia, Failure to thrive in infancy OMIM:618805
Macrophage Activation Syndrome
Increased circulating ferritin concentration, Abnormality of tumor necrosis factor secretion, Inc... ORPHA:158061
Erythrocytosis, Familial, 8
Nonspherocytic hemolytic anemia, Splenomegaly, Polycythemia, Normocytic anemia, Normochromic anemia OMIM:222800
Delta-Beta-Thalassemia
Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231237
Primary Familial Polycythemia
Polycythemia, Abnormal hemoglobin ORPHA:90042
Refractory Anemia
Anemia of inadequate production, Normocytic anemia, Erythroid hypoplasia, Macrocytic anemia, Neut... ORPHA:98826
Bone Marrow Failure Syndrome 2
Anemia, Bone marrow hypocellularity, Leukopenia, Thrombocytopenia OMIM:615715
Erythroleukemia, Familial, Susceptibility To
Splenomegaly, Anemia, Thrombocytopenia, Leukemia, Acute myeloid leukemia, Erythroid hyperplasia OMIM:133180
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Obesity, Hypoalbuminemia ORPHA:88643
Hypervitaminosis A, Susceptibility To
Hypercalcemia OMIM:240150
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria
Failure to thrive, Hypercalcemia OMIM:239199
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Thrombocytopenia OMIM:166990
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Small for gestational age, Hypoplasia of the thymus, Decreased proportion of CD8-positive T cells... OMIM:617241
Caspase 8 Deficiency
Failure to thrive, Decreased circulating IgA level, Decreased circulating IgG level, Reduced CD95... OMIM:607271
Chylomicron Retention Disease
Failure to thrive, Decreased LDL cholesterol concentration, Hypocholesterolemia, Hypotriglyceride... OMIM:246700
Granulomatous Slack Skin
Hypercalcemia ORPHA:33111
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Increased mean corpuscular volume, Neutropenia, Pancytopenia, Bone marrow hypocellularity, Anemia... OMIM:619041
Immunodeficiency, Common Variable, 11
Failure to thrive, Decreased proportion of class-switched memory B cells, Decreased circulating I... OMIM:615767
Hyperparathyroidism 4
Hypercalcemia OMIM:617343
Blue Diaper Syndrome
Increased body weight, Hyperphosphatemia, Hypercalcemia ORPHA:94086
Proteasome-Associated Autoinflammatory Syndrome 2
Failure to thrive, Elevated circulating C-reactive protein concentration, Increased circulating I... OMIM:618048
Forsythe-Wakeling Syndrome
Decreased body weight, Thrombocytopenia OMIM:613606
Pericardial Effusion, Chronic
Polycythemia OMIM:260900
Hypocalcemia, Autosomal Dominant 2
Hypocalcemia OMIM:615361
Myopathy, Tubular Aggregate, 2
Hypocalcemia, Elevated circulating creatine kinase concentration OMIM:615883
Hyperparathyroidism, Neonatal Severe
Failure to thrive, Hypophosphatemia, Splenomegaly, Hypercalcemia, Calcinosis, Anemia OMIM:239200
Fanconi Anemia, Complementation Group T
Bone marrow hypocellularity, Anemia, Thrombocytopenia, Pancytopenia OMIM:616435
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia
Thrombocytopenia, Impaired platelet aggregation, Macrothrombocytopenia OMIM:124900
Eosinophilic Gastroenteritis
Elevated circulating C-reactive protein concentration, Leukocytosis, Eosinophilia, Weight loss, H... ORPHA:2070
Cyanosis, Transient Neonatal
Methemoglobinemia, Reticulocytosis, Anemia OMIM:613977
Dengue Fever
Leukopenia, Thrombocytopenia, Hypoproteinemia ORPHA:99828
Immunodeficiency 25
Increased circulating IgA level, Eosinophilia, Increased circulating IgG level, T lymphocytopenia... OMIM:610163
Congenital Disorder Of Glycosylation, Type Iik
Failure to thrive, Elevated circulating creatine kinase concentration, Thrombocytopenia OMIM:614727
Sickle Cell Anemia
Increased mean corpuscular volume, Leukocytosis, Hypochromic anemia, Persistence of hemoglobin F,... ORPHA:232
Hypophosphatasia, Infantile
Elevated plasma pyrophosphate, Anemia, Failure to thrive, Hypercalcemia OMIM:241500
Parathyroid Carcinoma
Hypercalcemia OMIM:608266
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Splenomegaly, Hypocholesterolemia, Anemia, Thrombocytopenia, Hypersplenism OMIM:610539
Nephrotic Syndrome, Type 1
Hyperlipidemia, Hypoalbuminemia, Hypoproteinemia, Small for gestational age OMIM:256300
Acquired Idiopathic Sideroblastic Anemia
Anemia of inadequate production, Granulocytopenia, Neutropenia, Leukocytosis, Splenomegaly, Hypoc... ORPHA:75564
Preeclampsia/Eclampsia 1
Thrombocytopenia OMIM:189800
Gastritis, Familial Giant Hypertrophic
Hypoproteinemia OMIM:137280
B-Cell Expansion With Nfkb And T-Cell Anergy
Decreased circulating IgA level, Splenomegaly, Decreased specific antibody response to polysaccha... OMIM:616452
Nephrotic Syndrome, Type 2
Hyperlipidemia, Hypoalbuminemia OMIM:600995
Hypoparathyroidism, Familial Isolated, 2
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures OMIM:618883
Abcd Syndrome
Polycythemia, Large for gestational age OMIM:600501
Agammaglobulinemia 10, Autosomal Dominant
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... OMIM:619707
Severe Combined Immunodeficiency, X-Linked
Failure to thrive, Decreased circulating IgA level, Decreased circulating IgG level, Hypoplasia o... OMIM:300400
Sitosterolemia 1
Episodic hemolytic anemia, Stomatocytosis, Splenomegaly, Anemia, Impaired platelet aggregation, C... OMIM:210250
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To
Hyperbilirubinemia, Hemolytic anemia, Stomatocytosis, Reticulocytosis, Erythroid hyperplasia OMIM:301083
Nephrotic Syndrome, Type 15
Hypoalbuminemia OMIM:617609
Congenital Lethal Erythroderma
Failure to thrive, Hypoalbuminemia ORPHA:1954
Glut1 Deficiency Syndrome 2
Hemolytic anemia, Reticulocytosis, Reduced haptoglobin level, Splenomegaly OMIM:612126
Immunodeficiency 105
Decreased circulating IgA level, Lymphopenia, Decreased circulating IgG level, Hepatosplenomegaly... OMIM:619924
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Lack of T cell function, Failure to thrive, Lymphopenia, B lymphocytopenia, Abnormality of humora... ORPHA:277
Bleeding Disorder, Platelet-Type, 24
Impaired collagen-induced platelet aggregation, Impaired ristocetin-induced platelet aggregation,... OMIM:619271
Alpha-Thalassemia-Myelodysplastic Syndrome
Splenomegaly, Microcytic anemia, Neutropenia, HbH hemoglobin, Thrombocytopenia, Acute leukemia ORPHA:231401
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Thrombocytopenia, Increased circulating IgA level OMIM:314000
Dehydrated Hereditary Stomatocytosis 2
Increased mean corpuscular volume, Hyperbilirubinemia, Splenomegaly, Anisopoikilocytosis, Acantho... OMIM:616689
Platelet Signal Processing Defect
Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggregation, Thromb... OMIM:173590
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Increased circulating antibody level, Decreased lymphocyte proliferation in response to mitogen, ... ORPHA:169154
Folate Malabsorption, Hereditary
Failure to thrive, Leukopenia, Neutropenia, Thrombocytopenia, Folate-responsive megaloblastic anemia OMIM:229050
Congenital Enterocyte Heparan Sulfate Deficiency
Abnormal circulating protein concentration, Weight loss, Abnormal circulating polysaccharide conc... ORPHA:103910
Familial Hemophagocytic Lymphohistiocytosis
Increased circulating ferritin concentration, Abnormality of tumor necrosis factor secretion, Inc... ORPHA:540
Hypercalcemia, Infantile, 1
Infantile hypercalcemia, Weight loss, Failure to thrive OMIM:143880
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypoalbuminemia, Hypercholesterolemia OMIM:607250
Beta-Thalassemia
Abnormal hemoglobin, Splenomegaly, Abnormality of iron homeostasis, Microcytic anemia, Anemia, Th... ORPHA:848
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Increased mean corpuscular volume, Thrombocytopenia, Acute myeloid leukemia OMIM:252270
Nephrotic Syndrome, Type 9
Hypoalbuminemia OMIM:615573
Drug-Induced Lupus Erythematosus
Elevated circulating C-reactive protein concentration, Increased blood urea nitrogen, Decreased s... ORPHA:231111
Immunodeficiency 14B, Autosomal Recessive
Decreased circulating IgA level, Decreased circulating IgG level, Neutrophilia, Leukocytosis, Dec... OMIM:619281
Diabetes Mellitus, Permanent Neonatal, 4
Elevated hemoglobin A1c, Reduced C-peptide level, Small for gestational age OMIM:618858
Fanconi Anemia, Complementation Group G
Anemia, Thrombocytopenia, Leukemia, Neutropenia OMIM:614082
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Hypoproteinemia OMIM:221400
Immunodeficiency 97 With Autoinflammation
Increased circulating ferritin concentration, Decreased circulating IgA level, Neutropenia in pre... OMIM:619802
X-Linked Agammaglobulinemia
Failure to thrive, Hypocalcemia, Weight loss, Neutropenia, Agammaglobulinemia, Anemia, Thrombocyt... ORPHA:47
Paternal Uniparental Disomy Of Chromosome 1
Obesity, Episodic hemolytic anemia, Increased blood urea nitrogen, Hypercalcemia ORPHA:251004
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Failure to thrive, Hypoalbuminemia OMIM:617156
Agammaglobulinemia 4, Autosomal Recessive
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... OMIM:613502
Glucose-Galactose Malabsorption
Failure to thrive, Weight loss, Hypercalcemia, Hypernatremia ORPHA:35710
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Increased circulating antibody level, Acute monocytic leukemia, Eosinophilia, Monocytosis, Congen... OMIM:202700
Thrombotic Thrombocytopenic Purpura
Microangiopathic hemolytic anemia, Reticulocytosis, Thrombocytopenia, Decreased serum creatinine ORPHA:54057
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Increased circulating ferritin concentration, Neutropenia, Elevated circulating C-reactive protei... ORPHA:158057
Fumarase Deficiency
Polycythemia, Failure to thrive, Hyperbilirubinemia OMIM:606812
Bilateral Striopallidodentate Calcinosis
Thrombocytopenia ORPHA:1980
Hepatocellular Carcinoma
Hypokalemia, Hyperbilirubinemia, Polycythemia, Thrombocytosis, Weight loss, Hypoalbuminemia, Hype... ORPHA:88673
Alpha-Thalassemia Myelodysplasia Syndrome
HbH hemoglobin, Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:300448
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Increased blood urea nitrogen, Decreased serum complement C3, Elevated circulating creatinine con... OMIM:612922
Igg4-Related Aortitis
Increased circulating antibody level, Elevated circulating C-reactive protein concentration, Comp... ORPHA:449400
Bone Marrow Failure Syndrome 4
Leukopenia, Decreased circulating antibody level, Bone marrow hypocellularity, Anemia, Thrombocyt... OMIM:618116
Fetal Parvovirus Syndrome
Anemia, Thrombocytopenia ORPHA:295
Familial Isolated Hyperparathyroidism
Infantile hypercalcemia, Hypophosphatemia, Hypercalcemia ORPHA:99879
Immunodeficiency 102
Increased circulating interleukin 6 concentration, Decreased circulating IgA level, Neutropenia i... OMIM:301082
Osteopetrosis, Autosomal Recessive 8
Failure to thrive, Anemia, Thrombocytopenia, Splenomegaly OMIM:615085
Immunodeficiency 72 With Autoinflammation
Hepatosplenomegaly, Increased circulating IgG level, Increased B cell count, Increased circulatin... OMIM:618982
Immunodeficiency, Common Variable, 7
Chronic (near) absent circulating IgG4, Decreased circulating IgA level, Reduced isohemagglutinin... OMIM:614699
Preeclampsia
Increased body mass index, Small for gestational age, Elevated circulating creatinine concentrati... ORPHA:275555
Anemia, Congenital Dyserythropoietic, Type Ia
Anemia of inadequate production, Hyperbilirubinemia, Splenomegaly, Small for gestational age, Ani... OMIM:224120
Analbuminemia
Elevated circulating transferrin concentration, Hypoalbuminemia, Increased LDL cholesterol concen... OMIM:616000
Transaldolase Deficiency
Hepatosplenomegaly, Abnormal circulating glutamine concentration, Anemia, Thrombocytopenia, Incre... ORPHA:101028
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Failure to thrive, Hypomagnesemia, Leukopenia, Hyponatremia, Hyperuricemia, Anemia, Thrombocytopenia OMIM:613845
Small Cell Carcinoma Of The Bladder
Hypercalcemia ORPHA:284400
Immunodeficiency 52
Failure to thrive, Increased proportion of gamma-delta T cells, Lymphopenia, Coombs-positive hemo... OMIM:617514
Congenital Disorder Of Glycosylation, Type Ih
Failure to thrive, Elevated circulating creatinine concentration, Hypoalbuminemia, Anemia, Thromb... OMIM:608104
Primary Membranoproliferative Glomerulonephritis
Decreased serum complement C3, Hypoalbuminemia ORPHA:54370
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Hypocalcemia, Elevated circulating gamma-aminobutyric acid concentration, Splenomegaly OMIM:619658
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hypertriglyceridemia, Hepatosplenomegaly, Microcytic anemia, Hypoalbuminemia OMIM:619013
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Abnormal T cell count, Decreased circulating IgA level, Decreased lymphocyte proliferation in res... ORPHA:331206
Platelet Glycoprotein Iv Deficiency
Thrombocytopenia, Giant platelets OMIM:608404
Focal Segmental Glomerulosclerosis 6
Hypoalbuminemia OMIM:614131
Immunodeficiency, Common Variable, 3
Decreased circulating IgA level, Reduced isohemagglutinin level, Decreased circulating total IgM,... OMIM:613493
Thrombocytopenia 4
Thrombocytopenia, Abnormal platelet volume OMIM:612004
Persistent Polyclonal B-Cell Lymphocytosis
Decreased circulating total IgM, Lymphocytosis, Splenomegaly OMIM:606445
Elliptocytosis 2
Neonatal hyperbilirubinemia, Reticulocytosis, Elliptocytosis, Hemolytic anemia OMIM:130600
Spherocytosis, Type 2
Hyperbilirubinemia, Spherocytosis, Splenomegaly, Acanthocytosis, Hemolytic anemia, Reticulocytosis OMIM:616649
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Decreased serum complement factor H, Hyperlipidemia, Increased blood urea nitrogen, Decreased ser... OMIM:235400
Agammaglobulinemia 2, Autosomal Recessive
Decreased circulating IgA level, Decreased circulating total IgM, Absent circulating B cells, Aga... OMIM:613500
Late-Onset Isolated Acth Deficiency
Failure to thrive, Eosinophilia, Normocytic anemia, Macrocytic anemia, Hyponatremia, Hypercalcemi... ORPHA:199299
Spherocytosis, Type 4
Hyperbilirubinemia, Spherocytosis, Splenomegaly, Hemolytic anemia, Reticulocytosis OMIM:612653
Agammaglobulinemia 9, Autosomal Recessive
Agammaglobulinemia, Absent circulating B cells, Failure to thrive, Thrombocytopenia OMIM:619693
Pseudohypoparathyroidism Type 2
Hypocalcemic tetany, Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures ORPHA:94090
Bleeding Disorder, Platelet-Type, 15
Increased mean platelet volume, Thrombocytopenia, Platelet anisocytosis OMIM:615193
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Elevated creatine kinase after exercise, Hypercalcemia ORPHA:284426
Roch-Leri Mesosomatous Lipomatosis
Thrombocytopenia ORPHA:529
Dk Phocomelia Syndrome
Thrombocytopenia OMIM:223340
Pseudo-Von Willebrand Disease
Intermittent thrombocytopenia OMIM:177820
Immunodeficiency 44
Decreased circulating total IgM, Decreased circulating IgA level, Lymphopenia, Abnormal circulati... OMIM:616636
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Increased blood urea nitrogen, Decreased serum complement C3, Elevated circulating creatinine con... OMIM:612925
Ataxia-Pancytopenia Syndrome
Hypoplastic anemia, Acute myelomonocytic leukemia, Pancytopenia, Neutropenia, Anemia, Thrombocyto... OMIM:159550
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Failure to thrive, Splenomegaly, Hyperammonemia, Neutropenia, Anemia, Thrombocytopenia ORPHA:79312
Oculoskeletodental Syndrome
Small for gestational age, Hypocalcemia, Hypercalcemia, Splenomegaly OMIM:618440
Alpha-Thalassemia
Abnormal hemoglobin, Splenomegaly, Hemolytic anemia, Microcytic anemia, Anemia, Hypersplenism ORPHA:846
Non-Functioning Paraganglioma
Weight loss, Hypercalcemia ORPHA:94080
Livedoid Vasculopathy
Leukocytosis, Abnormal circulating lipid concentration, Polycythemia, Hyperhomocystinemia, Abnorm... ORPHA:542643
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Impaired epinephrine-induced platelet aggregation, Neutrophil inclusion bodies, Leukocyte inclusi... OMIM:155100
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypermethioninemia, Abnormal circulating arginine concentration, Abnormal circulating glutamine c... ORPHA:247598
Hypomagnesemia 1, Intestinal
Hypomagnesemia, Hypocalcemia OMIM:602014
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Hypercalcemia OMIM:614732
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypoalbuminemia, Hypercholesterolemia ORPHA:94124
Immunodeficiency With Hyper-Igm, Type 1
Failure to thrive, Decreased circulating IgA level, Decreased circulating IgG level, Increased ci... OMIM:308230
Familial Pseudohyperkalemia
Increased mean corpuscular volume, Episodic hemolytic anemia, Stomatocytosis, Reticulocytosis, Hy... ORPHA:90044
Uremic Pruritus
Increased blood urea nitrogen, Renal hypophosphatemia, Abnormality of serum cytokine level, Hyper... ORPHA:94059
Agammaglobulinemia 6, Autosomal Recessive
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... OMIM:612692
Lipodystrophy, Congenital Generalized, Type 3
Hypocalcemia, Splenomegaly, Hepatosplenomegaly, Hypertriglyceridemia, Hypercholesterolemia OMIM:612526
Acute Adrenal Insufficiency
Failure to thrive, Normocytic anemia, Increased circulating renin level, Hyponatremia, Hyperurice... ORPHA:95409
Diabetes Mellitus, Permanent Neonatal, 1
Elevated hemoglobin A1c, Reduced C-peptide level, Small for gestational age OMIM:606176
Amed Syndrome, Digenic
Failure to thrive, Leukopenia, Bone marrow hypocellularity, Anemia, Thrombocytopenia, Acute myelo... OMIM:619151
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Anemia of inadequate production, Hypochromic anemia, Anisocytosis, Poikilocytosis, Macrothrombocy... ORPHA:67044
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Failure to thrive, Leukocytosis, Hypoproteinemia, Splenomegaly, Elevated circulating creatine kin... OMIM:615895
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Failure to thrive, Decreased circulating IgA level, Decreased serum creatinine, Decreased circula... OMIM:617744
Gray Platelet Syndrome
Abnormality of thrombocytes, Thrombocytopenia, Splenomegaly ORPHA:721
Leptospirosis
Hyperproteinemia, Thrombocytopenia ORPHA:509
Harderoporphyria
Increased circulating ferritin concentration, Splenomegaly, Hemolytic anemia, Neonatal hyperbilir... OMIM:618892
Pseudohypoparathyroidism, Type Ib
Obesity, Hypocalcemia, Hyperphosphatemia OMIM:603233
Juvenile Polyposis Syndrome
Failure to thrive, Anemia, Hypokalemia, Hypoalbuminemia OMIM:174900
Pyruvate Kinase Deficiency Of Red Cells
Splenomegaly, Decreased hemoglobin concentration, Chronic hemolytic anemia, Unconjugated hyperbil... OMIM:266200
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Decreased glucose-6-phosphate dehydrogenase level in blood, Leukocytosis, Splenomegaly, Heinz bod... OMIM:300908
Stormorken Syndrome
Elevated circulating creatine kinase concentration, Anemia, Thrombocytopenia, Asplenia, Howell-Jo... OMIM:185070
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Decreased circulating total IgM, Neutropenia OMIM:610798
Nephrotic Syndrome, Type 7
Hemolytic anemia, Thrombocytopenia OMIM:615008
Johanson-Blizzard Syndrome
Failure to thrive, Anemia, Hypoproteinemia ORPHA:2315
Solute carrier family 4 (anion exchanger), member 1
Hyperbilirubinemia, Spherocytosis, Splenomegaly, Acanthocytosis, Hemolytic anemia, Elliptocytosis... OMIM:109270
Pseudohypoparathyroidism, Type Ii
Hypocalcemia, Hyperphosphatemia OMIM:203330
Pontocerebellar Hypoplasia, Type 15
Anemia, Chronic neutropenia, Thrombocytopenia OMIM:619302
Glycogen Storage Disease Vii
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Hemolytic anemia, Increased total bilir... OMIM:232800
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome
Increased circulating ferritin concentration, Bone marrow hypocellularity, Hepatosplenomegaly, Th... ORPHA:210136
Idiopathic Chronic Eosinophilic Pneumonia
Elevated circulating C-reactive protein concentration, Leukocytosis, Weight loss, Hypereosinophil... ORPHA:2902
Giant platelet syndrome with thrombocytopenia
Thrombocytopenia, Giant platelets OMIM:137560
Autosomal Dominant Hypophosphatemic Rickets
Hypophosphatemia, Iron deficiency anemia, Hypocalcemia ORPHA:89937
Citrullinemia Type Ii
Acute hyperammonemia, Hyperlipidemia, Hypoproteinemia, Decreased HDL cholesterol concentration, D... ORPHA:247585
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Decreased mean corpuscular volume, Failure to thrive, Hypokalemia, Hepatosplenomegaly, Hemolytic ... OMIM:611590
Oculocerebrodental Syndrome
Hypocalcemia, Hypercalcemia ORPHA:557003
Sea-Blue Histiocyte Disease
Sea-blue histiocytosis, Thrombocytopenia, Splenomegaly OMIM:269600
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Failure to thrive, Coombs-positive hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, N... OMIM:304790
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Increased blood urea nitrogen, Elevated circulating creatinine concentration, Microangiopathic he... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Increased blood urea nitrogen, Elevated circulating creatinine concentration, Microangiopathic he... OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Increased blood urea nitrogen, Elevated circulating creatinine concentration, Microangiopathic he... OMIM:612926
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hypocalcemia, Hypoproteinemia, Hyperammonemia, Small for gestational age, Elevated circulating cr... ORPHA:26793
Hepatoportal Sclerosis
Hyperbilirubinemia, Splenomegaly, Leukopenia, Hypoalbuminemia, Anemia, Thrombocytopenia, Hyperspl... ORPHA:64743
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Decreased circulating ferritin concentration, Splenomegaly, Polycythemia, Abnormal transferrin sa... ORPHA:309854
Autoimmune Lymphoproliferative Syndrome, Type Iia
Neutropenia in presence of anti-neutropil antibodies, Increased circulating IgA level, Coombs-pos... OMIM:603909
Immunoglobulin A Deficiency 2
Decreased circulating IgA level, Abnormal lymphocyte morphology OMIM:609529
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Hypomagnesemia, Hypokalemia, Hypocalcemia, Cachexia, Anemia OMIM:175500
Diamond-Blackfan Anemia 3
Increased mean corpuscular volume, Persistence of hemoglobin F, Macrocytic anemia, Reticulocytope... OMIM:610629
Mastocytosis
Splenomegaly, Mastocytosis, Chronic leukemia, Hypercalcemia, Acute leukemia ORPHA:98292
Aicardi-Goutieres Syndrome 3
Hepatosplenomegaly, Thrombocytopenia OMIM:610329
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Autoimmune hemolytic anemia, Increased circulating antibody level, Lymphopenia, Plasmacytosis OMIM:247800
Moyamoya Disease With Early-Onset Achalasia
Abnormal platelet aggregation, Thrombocytopenia ORPHA:401945
Spherocytosis, Type 1
Hyperbilirubinemia, Spherocytosis, Splenomegaly, Hemolytic anemia, Reticulocytosis OMIM:182900
2P21 Microdeletion Syndrome
Failure to thrive, Hypocalcemia ORPHA:163693
Imerslund-Gräsbeck Syndrome
Megaloblastic anemia, Failure to thrive, Neutropenia, Anisopoikilocytosis, Macrocytic anemia, Thr... ORPHA:35858
Congenital Enterovirus Infection
Leukocytosis, Hyperammonemia, Leukopenia, Abnormal macrophage morphology, Hypoalbuminemia, Neutro... ORPHA:292
Vitamin B12-Unresponsive Methylmalonic Acidemia
Hyperammonemia, Leukopenia, Macrocytic anemia, Anemia, Thrombocytopenia ORPHA:27
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Nonspherocytic hemolytic anemia, Hyperbilirubinemia, Splenomegaly, Normocytic anemia, Reticulocyt... OMIM:235700
Anemia, Congenital Dyserythropoietic, Type Ib
Anemia of inadequate production, Splenomegaly, Anemia, Anisocytosis, Poikilocytosis, Reticulocyto... OMIM:615631
Galloway-Mowat Syndrome 8
Hypoalbuminemia OMIM:618349
Ras-Associated Autoimmune Leukoproliferative Disorder
Increased circulating antibody level, Lymphocytosis, Splenomegaly, Monocytosis, Autoimmune thromb... OMIM:614470
3-Methylglutaconic Aciduria Type 4
Failure to thrive, Thrombocytopenia ORPHA:67048
Acute Interstitial Pneumonia
Reduced hematocrit, Elevated circulating creatinine concentration, Elevated circulating C-reactiv... ORPHA:79126
Overhydrated Hereditary Stomatocytosis
Hyperbilirubinemia, Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis OMIM:185000
Transcobalamin Ii Deficiency
Failure to thrive, Decreased circulating IgA level, Decreased circulating IgG level, Decreased ci... OMIM:275350
Osteopetrosis, Autosomal Recessive 1
Failure to thrive, Hypocalcemia, Splenomegaly, Pancytopenia, Anemia, Thrombocytopenia OMIM:259700
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Thrombocytopenia, Anemia, Neutropenia, Hyperammonemia ORPHA:289916
Immunodeficiency, Common Variable, 14
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... OMIM:617765
Hyperparathyroidism 2 With Jaw Tumors
Hypercalcemia OMIM:145001
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Failure to thrive, Hyperbilirubinemia, Splenomegaly, Hypoalbuminemia, Thrombocytopenia OMIM:251880
Chronic Bilirubin Encephalopathy
Neonatal hyperbilirubinemia, Hemolytic anemia, Hypoalbuminemia, Hypernatremia ORPHA:529808
Acute Bilirubin Encephalopathy
Neonatal hyperbilirubinemia, Hemolytic anemia, Hypoalbuminemia, Hypernatremia ORPHA:529799
Thrombocytopenia 5
Anemia, Thrombocytopenia, Neutropenia OMIM:616216
Iron-Refractory Iron Deficiency Anemia
Elevated hepcidin level, Anisocytosis, Hypochromic microcytic anemia, Poikilocytosis OMIM:206200
Bleeding Disorder, Platelet-Type, 20
Thrombocytopenia OMIM:616913
Von Willebrand Disease, Type 2
Thrombocytopenia OMIM:613554
Bleeding Disorder, Platelet-Type, 19
Anemia, Macrothrombocytopenia OMIM:616176
Thrombocytopenia With Beta-Thalassemia, X-Linked
Hemolytic anemia, Reticulocytosis, Thrombocytopenia, Splenomegaly OMIM:314050
Chédiak-Higashi Syndrome
Increased circulating ferritin concentration, Abnormal leukocyte morphology, Neutropenia, Vacuola... ORPHA:167
Nephrotic Syndrome, Type 22
Hypoproteinemia OMIM:619155
Systemic Lupus Erythematosus 17
Lymphopenia, Decreased serum complement C3, Leukopenia, Decreased serum complement C4, Autoimmune... OMIM:301080
Nephrotic Syndrome, Type 6
Hypoalbuminemia OMIM:614196
Kimura Disease
Eosinophilia, Increased circulating IgE level ORPHA:482
Microcephaly, Epilepsy, And Diabetes Syndrome 2
Elevated hemoglobin A1c, Small for gestational age OMIM:619278
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hypomagnesemia, Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures ORPHA:2239
Phosphoglycerate Dehydrogenase Deficiency
Megaloblastic anemia, Thrombocytopenia OMIM:601815
Poems Syndrome
Polycythemia, Thrombocytosis, Weight loss, Increased circulating antibody level ORPHA:2905
Vitamin D-Dependent Rickets, Type 3
Hypophosphatemia, Hypocalcemia OMIM:619073
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant
Impaired platelet aggregation, Macrothrombocytopenia OMIM:613112
Wolcott-Rallison Syndrome
Decreased body weight, Lymphocytosis, Hyperbilirubinemia, Hyperammonemia, Iron deficiency anemia,... ORPHA:1667
Methylmalonic Aciduria, Cblb Type
Failure to thrive, Neutropenia, Hyperammonemia, Hyperglycinemia, Methylmalonic acidemia, Pancytop... OMIM:251110
Thrombocytopenia, Anemia, And Myelofibrosis
Anemia, Thrombocytopenia, Anisopoikilocytosis, Splenomegaly OMIM:617441
Alg6-Cdg
Failure to thrive, Decreased LDL cholesterol concentration, Hypoalbuminemia ORPHA:79320
Addison Disease
Failure to thrive, Normocytic anemia, Increased circulating renin level, Hyponatremia, Hyperurice... ORPHA:85138
Diffuse Alveolar Hemorrhage
Leukocytosis, Decreased serum complement C3, Decreased serum complement C4, Elevated circulating ... ORPHA:90060
Bernard-Soulier Syndrome
Impaired ristocetin-induced platelet aggregation, Thrombocytopenia, Macrothrombocytopenia, Giant ... OMIM:231200
Hypocalcemia, Autosomal Dominant 1
Hypomagnesemia, Hypokalemia, Hypocalcemia, Increased circulating renin level, Hyperphosphatemia OMIM:601198
Fibronectin Glomerulopathy
Hypoalbuminemia ORPHA:84090
Galloway-Mowat Syndrome 6
Decreased body weight, Hypoalbuminemia OMIM:618347
Pontocerebellar Hypoplasia, Type 14
Chronic neutropenia, Thrombocytopenia OMIM:619301
Spherocytosis, Type 5
Spherocytosis, Abnormal leukocyte count, Splenomegaly, Hemolytic anemia, Abnormal platelet count,... OMIM:612690
Immunodeficiency, Common Variable, 12, With Autoimmunity
Autoimmune hemolytic anemia, Thrombocytopenia, Decreased circulating antibody level OMIM:616576
Wt Limb-Blood Syndrome
Hypoplastic anemia, Thrombocytopenia, Leukemia, Pancytopenia OMIM:194350
Thymic Neuroendocrine Tumor
Weight loss, Hypercalcemia ORPHA:97289
Immunodeficiency 70
Decreased circulating total IgA, Decreased circulating total IgM, B lymphocytopenia, Decreased ci... OMIM:618969
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Failure to thrive, Elevated circulating propionylcarnitine concentration, Hypomethioninemia, Hype... OMIM:614857
Hypophosphatemic Rickets And Hyperparathyroidism
Hypophosphatemic rickets, Hypophosphatemia, Hypercalcemia OMIM:612089
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Failure to thrive, Decreased circulating IgA level, Lymphopenia, Splenomegaly, Aplasia of the thy... OMIM:102700
Relapsing Fever
Elevated circulating C-reactive protein concentration, Neutrophilia, Leukocytosis, Leukopenia, In... ORPHA:91547
Wolfram Syndrome, Mitochondrial Form
Thrombocytopenia, Megaloblastic anemia, Sideroblastic anemia, Neutropenia OMIM:598500
Gaucher Disease, Type Iii
Decreased body weight, Thrombocytopenia, Splenomegaly, Pancytopenia OMIM:231000
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Hyperphosphatemia, Hypercalcemia OMIM:617994
Albers-Schönberg Osteopetrosis
Abnormal leukocyte morphology, Anemia, Hypocalcemia ORPHA:53
Gaucher Disease, Type Ii
Failure to thrive, Anemia, Thrombocytopenia, Splenomegaly OMIM:230900
Nephrotic Syndrome, Type 3
Hypoalbuminemia OMIM:610725
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Anemia, Thrombocytopenia, Congenital thrombocytopenia, Neutropenia OMIM:616738
Immunodeficiency, Common Variable, 1
Decreased circulating IgA level, Neutropenia in presence of anti-neutropil antibodies, Decreased ... OMIM:607594
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Sideroblastic anemia, Thrombocytopenia OMIM:617021
Methylmalonic Aciduria, Cbla Type
Failure to thrive, Neutropenia, Hyperammonemia, Hyperglycinemia, Methylmalonic acidemia, Pancytop... OMIM:251100
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Hypomagnesemia, Hypocalcemia, Neutropenia in presence of anti-neutropil antibodies, Splenomegaly,... ORPHA:37042
Kenny-Caffey Syndrome, Type 1
Anemia, Hypomagnesemia, Hypocalcemia OMIM:244460
Infantile Myofibromatosis
Hypercalcemia ORPHA:2591
Immunodeficiency 85 And Autoimmunity
Decreased circulating IgA level, Lymphopenia, Decreased circulating IgG level, Decreased circulat... OMIM:619510
Amoebiasis Due To Entamoeba Histolytica
Anemia, Weight loss, Hypoalbuminemia, Leukocytosis ORPHA:67
Congenital Toxoplasmosis
Anemia, Thrombocytopenia, Failure to thrive in infancy ORPHA:858
Hereditary Folate Malabsorption
Megaloblastic anemia, Failure to thrive, Eosinophilia, Decreased circulating antibody level, Panc... ORPHA:90045
Hypoparathyroidism, Familial Isolated, 1
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures OMIM:146200
Proteasome-Associated Autoinflammatory Syndrome 3
Increased circulating antibody level, Failure to thrive, Lymphopenia, Splenomegaly, Hypertriglyce... OMIM:617591
Chronic Myeloid Leukemia
Leukocytosis, Splenomegaly, Myeloproliferative disorder, Abnormal granulocyte morphology, Thrombo... ORPHA:521
Hypocalciuric Hypercalcemia, Familial, Type I
Hypercalcemia, Hypermagnesemia OMIM:145980
Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant
Decreased circulating IgA level, Lymphopenia, Decreased circulating IgG level, Decreased circulat... OMIM:619752
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Failure to thrive, Hypoalbuminemia, Decreased circulating copper concentration, Decreased circula... OMIM:242150
Mevalonic Aciduria
Failure to thrive, Elevated circulating C-reactive protein concentration, Fluctuating splenomegal... OMIM:610377
Thrombocytopenia 1
Increased circulating IgA level, Congenital thrombocytopenia, Decreased mean platelet volume, Int... OMIM:313900
Rh Deficiency Syndrome
Hypochromia, Hyperbilirubinemia, Spherocytosis, Anisocytosis, Hepatosplenomegaly, Macrocytic anem... ORPHA:71275
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Decreased specific anti-polysaccharide antibody level, Decreased lymphocyte proliferation in resp... OMIM:606367
Pseudo-Torch Syndrome 3
Increased circulating ferritin concentration, Anemia, Congenital thrombocytopenia, Leukocytosis OMIM:618886
Immunodeficiency 91 And Hyperinflammation
Failure to thrive, Elevated circulating C-reactive protein concentration, Neutrophilia, Hemophago... OMIM:619644
Immunodeficiency, Common Variable, 4
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:613494
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Small for gestational age, Elevated circulating creatine kinase concentration, Normochromic anemi... OMIM:618775
Isolated Agammaglobulinemia
Failure to thrive, Abnormal lymphocyte morphology, Abnormality of neutrophils, Anemia, Thrombocyt... ORPHA:229717
Immunodeficiency With Hyper-Igm, Type 5
Decreased circulating IgA level, Impaired Ig class switch recombination, Decreased circulating Ig... OMIM:608106
+173470 integrin, beta-3
Post-transfusion thrombocytopenia, Decreased platelet glycoprotein IIb-IIIa, Neonatal alloimmune ... OMIM:173470
Hypocalciuric Hypercalcemia, Familial, Type Ii
Hypercalcemia, Hypermagnesemia OMIM:145981
Insulin-Resistance Syndrome Type B
Decreased body weight, Increased circulating IgA level, Abnormal circulating fatty-acid concentra... ORPHA:2298
Pheochromocytoma--Islet Cell Tumor Syndrome
Hypercalcemia OMIM:171420
Nephrotic Syndrome, Type 8
Hypoalbuminemia OMIM:615244
Osteopetrosis, Autosomal Recessive 4
Splenomegaly, Hepatosplenomegaly, Reticulocytosis, Anemia, Thrombocytopenia OMIM:611490
Primary Myelofibrosis
Leukocytosis, Splenomegaly, Extramedullary hematopoiesis, Cachexia, Hepatosplenomegaly, Thrombocy... ORPHA:824
Hereditary Elliptocytosis
Hyperbilirubinemia, Splenomegaly, Hemolytic anemia, Poikilocytosis, Congenital hemolytic anemia, ... ORPHA:288
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Increased circulating ferritin concentration, Splenomegaly, Increased red cell hemolysis by shear... OMIM:194380
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Failure to thrive, Hyperammonemia, Leukopenia, Hyperglycinemia, Methylmalonic acidemia, Neutropen... OMIM:251000
Idiopathic Aplastic Anemia
Pancytopenia, Neutropenia, Bone marrow hypocellularity, Anemia, Thrombocytopenia, Reticulocytopenia ORPHA:88
Immunodeficiency By Defective Expression Of Mhc Class Ii
Lack of T cell function, Decreased lymphocyte proliferation in response to mitogen, Failure to th... ORPHA:572
Celiac Disease, Susceptibility To, 1
Failure to thrive, Decreased circulating IgA level, Hypocalcemia, Iron deficiency anemia, Macrocy... OMIM:212750
Ghosal Hematodiaphyseal Dysplasia
Refractory anemia, Bone marrow hypocellularity, Leukopenia, Thrombocytopenia OMIM:231095
Holocarboxylase Synthetase Deficiency
Weight loss, Thrombocytopenia, Hyperammonemia ORPHA:79242
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hypocalcemia, Hypoproteinemia, Splenomegaly OMIM:235255
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia
Anemia of inadequate production, Congenital thrombocytopenia, Acanthocytosis, Poikilocytosis OMIM:300367
Avian Influenza
Elevated circulating C-reactive protein concentration, Lymphopenia, Leukopenia, Elevated circulat... ORPHA:454836
Combined Oxidative Phosphorylation Deficiency 14
Anemia, Thrombocytopenia OMIM:614946
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Megaloblastic anemia, Failure to thrive, Neutropenia, Hyperhomocystinemia, Cystathioninemia, Meth... OMIM:277380
Mucopolysaccharidosis-Plus Syndrome
Splenomegaly, Leukopenia, Hypoalbuminemia, Increased circulating IgM level, Neutropenia, Bone mar... OMIM:617303
Overhydrated Hereditary Stomatocytosis
Splenomegaly, Anisocytosis, Abnormal mean corpuscular volume, Hemolytic anemia, Decreased mean co... ORPHA:3203
Thrombotic Thrombocytopenic Purpura, Hereditary
Increased blood urea nitrogen, Schistocytosis, Elevated circulating creatinine concentration, Mic... OMIM:274150
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Increased circulating ferritin concentration, Thrombocytopenia, Hypochromic microcytic anemia ORPHA:3240
Non-Involuting Congenital Hemangioma
Thrombocytopenia ORPHA:141179
Sengers Syndrome
Thrombocytopenia OMIM:212350
Griscelli Syndrome
Splenomegaly, Abnormal circulating lipid concentration, Leukopenia, Abnormality of neutrophils, D... ORPHA:381
Congenital Disorder Of Glycosylation, Type Ij
Hypoproteinemia OMIM:608093
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Hemolytic anemia, Thrombocytopenia, Lymphopenia OMIM:616744
Nephrotic Syndrome, Type 14
Hypertriglyceridemia, Lymphopenia, Hypoalbuminemia OMIM:617575
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Megaloblastic anemia, Thrombocytopenia, Pancytopenia OMIM:613839
Specific Granule Deficiency 2
Failure to thrive, Neutropenia, Anemia, Thrombocytopenia, Absent neutrophil specific granules OMIM:617475
Glutamate-Cysteine Ligase Deficiency
Hemolytic anemia, Hepatosplenomegaly, Reticulocytosis ORPHA:33574
Congenital Disorder Of Glycosylation, Type Iil
Decreased specific anti-polysaccharide antibody level, Failure to thrive, Splenomegaly, Impaired ... OMIM:614576
Pancreatic insufficiency, combined exocrine
Hypoproteinemia OMIM:260450
Propionic Acidemia
Failure to thrive, Neutropenia, Hyperammonemia, Hyperglycinemia, Pancytopenia, Anemia, Thrombocyt... OMIM:606054
Alpha-Thalassemia
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:604131
Beta-Thalassemia
Hypochromic microcytic anemia, Reduced beta/alpha synthesis ratio OMIM:613985
Immunodeficiency 47
Failure to thrive, Splenomegaly, Decreased circulating total IgA, Leukopenia, Accessory spleen, N... OMIM:300972
Immunodeficiency 96
Increased mean corpuscular volume, Decreased circulating IgA level, Decreased circulating IgG lev... OMIM:619774
Bone Marrow Failure Syndrome 6
Increased mean corpuscular volume, Lymphopenia, Persistence of hemoglobin F, Neutropenia, Bone ma... OMIM:618849
Mpi-Cdg
Failure to thrive, Hypoalbuminemia ORPHA:79319
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Leukocytosis, Thrombocytopenia, Hyponatremia ORPHA:83601
Al Amyloidosis
Increased circulating antibody level, Increased circulating NT-proBNP concentration, Weight loss,... ORPHA:85443
Kenny-Caffey Syndrome, Type 2
Hypocalcemia, Small for gestational age, Hyperphosphatemia, Transient hypophosphatemia, Anemia OMIM:127000
Wiskott-Aldrich Syndrome, Autosomal Dominant
Decreased specific anti-polysaccharide antibody level, Lymphopenia, Increased circulating IgA lev... OMIM:600903
Immunodeficiency 60 And Autoimmunity
Decreased circulating IgA level, Decreased circulating IgG level, Splenomegaly, Decreased basophi... OMIM:618394
Diarrhea 10, Protein-Losing Enteropathy Type
Hypomagnesemia, Hypocalcemia, Hypertriglyceridemia, Decreased circulating antibody level, Hypoalb... OMIM:618183
Platelet Disorder, Familial, With Associated Myeloid Malignancy
Abnormal dense granule content, Acute monocytic leukemia, Impaired platelet aggregation, Abnormal... OMIM:601399
Fechtner syndrome
Leukocyte inclusion bodies, Thrombocytopenia, Neutrophil inclusion bodies, Giant platelets OMIM:153640
Sporadic Pheochromocytoma/Secreting Paraganglioma
Weight loss, Hypercalcemia ORPHA:276621
Thyrocerebrorenal Syndrome
Thrombocytopenia ORPHA:3327
Vipoma
Weight loss, Hypokalemia, Normochromic anemia, Hypercalcemia ORPHA:97282
Slc35A1-Cdg
Thrombocytopenia, Abnormal platelet granules, Giant platelets, Neutropenia ORPHA:238459
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Elevated circulating creatine kinase concentration, Hypoalbuminemia, Hypercholesterolemia OMIM:208920
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypophosphatemia, Hypercalcemia, Hypermagnesemia OMIM:600740
Immunodeficiency 92
Decreased circulating IgA level, Abnormal B cell proliferation, Decreased circulating IgG level, ... OMIM:619652
Hermansky-Pudlak Syndrome 9
Abnormal platelet aggregation, Leukopenia, Thrombocytopenia OMIM:614171
Metaphyseal Chondrodysplasia, Jansen Type
Hypophosphatemia, Hypercalcemia OMIM:156400
Stt3B-Cdg
Failure to thrive, Thrombocytopenia ORPHA:370924
Rapidly Involuting Congenital Hemangioma
Thrombocytopenia ORPHA:141184
Vexas Syndrome
Thrombocytopenia, Elevated circulating C-reactive protein concentration, Macrocytic anemia OMIM:301054
Anemia, Congenital Dyserythropoietic, Type Ii
Anemia of inadequate production, Reticulocytosis, Splenomegaly OMIM:224100
Isovaleric Acidemia
Bone marrow hypocellularity, Leukopenia, Thrombocytopenia, Pancytopenia OMIM:243500
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Hemolytic anemia, Decreased hemoglobin concentration, Reticulocytosis, Hyperbilirubinemia ORPHA:713
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Decreased circulating IgA level, Lymphopenia, Decreased circulating IgG level, Splenomegaly, Decr... OMIM:616100
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency
Failure to thrive, Large for gestational age, Neutropenia, Bone marrow hypocellularity, Anemia, T... OMIM:614520
Lysosomal Acid Lipase Deficiency
Failure to thrive, Increased LDL cholesterol concentration, Splenomegaly, Hepatosplenomegaly, Dec... OMIM:278000
Cog4-Cdg
Hepatosplenomegaly, Thrombocytopenia, Failure to thrive in infancy, Hypercholesterolemia ORPHA:263501
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Failure to thrive, Hypercalcemia ORPHA:476126
Bartter Syndrome, Type 1, Antenatal
Failure to thrive, Hypomagnesemia, Hypokalemia, Small for gestational age, Increased circulating ... OMIM:601678
Congenital Disorder Of Glycosylation, Type Ix
Failure to thrive, Thrombocytopenia OMIM:615597
Deafness, Neural, With Atypical Atopic Dermatitis
Increased circulating IgE level OMIM:221700
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hepatosplenomegaly, Hypocalcemia, Hypoproteinemia, Splenomegaly ORPHA:1655
S-Adenosylhomocysteine Hydrolase Deficiency
Failure to thrive, Elevated circulating creatine kinase concentration, Abnormal circulating methi... ORPHA:88618
Platelet Disorder, Undefined
Thrombocytopenia, Impaired platelet aggregation OMIM:173420
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Decreased circulating IgA level, Decreased circulating total IgM, Hypertriglyceridemia, Hypercalc... ORPHA:369837
Deafness-Lymphedema-Leukemia Syndrome
Leukocytosis, Splenomegaly, Myeloproliferative disorder, Abnormal neutrophil count, Bone marrow h... ORPHA:3226
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Failure to thrive, Decreased body weight, Abnormal circulating selenium concentration, Decreased ... ORPHA:89842
Immunodeficiency With Hyper-Igm, Type 2
Decreased circulating IgA level, Impaired Ig class switch recombination, Decreased circulating Ig... OMIM:605258
Acquired Purpura Fulminans
Thrombocytopenia, Elevated circulating C-reactive protein concentration ORPHA:49566
Aggressive Systemic Mastocytosis
Neutropenia, Abnormal mast cell morphology, Leukocytosis, Hepatosplenomegaly, Thrombocytopenia, I... ORPHA:98850
Ring Chromosome 10 Syndrome
Cachexia, Hypocalcemia ORPHA:1438
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Failure to thrive, Thrombocytopenia, Lymphocytosis, Decreased mean platelet volume OMIM:617718
Glucagonoma
Normochromic anemia, Weight loss, Acanthocytosis, Hypercalcemia ORPHA:97280
Palmoplantar Keratoderma, Epidermolytic
Increased circulating IgE level OMIM:144200
Immunodeficiency 98 With Autoinflammation, X-Linked
Decreased circulating IgG level, Hemophagocytosis, Splenomegaly, B lymphocytopenia, Thrombocytope... OMIM:301078
Familial Hypocalciuric Hypercalcemia
Renal hypophosphatemia, Hypercalcemia, Hypermagnesemia, Infantile hypercalcemia, Hypocalcemic sei... ORPHA:405
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive
Eosinophilia, Decreased circulating total IgM, Increased circulating IgG level, Decreased proport... OMIM:243700
Acyl-Coa Dehydrogenase 9 Deficiency
Elevated circulating acylcarnitine concentration, Failure to thrive, Hyperammonemia, Elevated cre... ORPHA:99901
Somatostatinoma
Weight loss, Hypochromic microcytic anemia, Hypercalcemia ORPHA:97283
Gracile Bone Dysplasia
Failure to thrive, Hypocalcemia, Hypoplastic spleen, Asplenia OMIM:602361
Alg12-Cdg
Failure to thrive, Partial absence of specific antibody response to Haemophilus influenzae type b... ORPHA:79324
Immunodeficiency, Common Variable, 8, With Autoimmunity
Failure to thrive, Decreased circulating IgA level, Decreased circulating IgG level, Splenomegaly... OMIM:614700
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... OMIM:611926
Babesiosis
Hemolytic anemia, Leukopenia, Thrombocytopenia, Splenomegaly ORPHA:108
Trichohepatoenteric Syndrome 1
Failure to thrive, Splenomegaly, Small for gestational age, Hypermethioninemia, Abnormality of ir... OMIM:222470
Immunodeficiency 35
Increased circulating IgE level OMIM:611521
Aicardi-Goutieres Syndrome 4
Hepatosplenomegaly, Thrombocytopenia, Splenomegaly, Pancytopenia OMIM:610333
Ige Responsiveness, Atopic
Increased circulating IgE level OMIM:147050
Bleeding Disorder, Platelet-Type, 17
Impaired collagen-induced platelet aggregation, Impaired epinephrine-induced platelet aggregation... OMIM:187900
Renal Tubular Acidosis, Distal, 1</