Gene Summary

Name:
major facilitator superfamily domain containing 2B
Synonyms:
Gm1964

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
increased mean corpuscular hemoglobin Mfsd2btm1a(KOMP)Wtsi HOM   Early adult 4.70×10-05
decreased erythrocyte cell number Mfsd2btm1a(KOMP)Wtsi HOM   Early adult 3.46×10-05
decreased circulating iron level Mfsd2btm1a(KOMP)Wtsi HOM Early adult 1.14×10-07
abnormal vibrissa morphology Mfsd2btm1a(KOMP)Wtsi HOM   Early adult 1.58×10-05
increased body length Mfsd2btm1a(KOMP)Wtsi HOM   Early adult 2.20×10-05

Download data as:  TSV  XLS

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

lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Aorta N/A heterozygote Not available
Blood vessel N/A heterozygote 0.0% (0 of 2)
Bone N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 0.0% (0 of 2)
Brainstem N/A heterozygote Not available
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 0.0% (0 of 2)
Cerebellum N/A heterozygote Not available
Cerebral cortex N/A heterozygote Not available
Eye N/A heterozygote 0.0% (0 of 2)
Gall bladder N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote 0.0% (0 of 2)
Hippocampus N/A heterozygote Not available
Hypothalamus N/A heterozygote Not available
Kidney N/A heterozygote 0.0% (0 of 2)
Large intestine N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote 0.0% (0 of 2)
Lung N/A heterozygote 0.0% (0 of 2)
Lymph node N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Esophagus N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote Not available
Ovary N/A heterozygote 50% (1 of 2)
Oviduct N/A heterozygote 0.0% (0 of 2)
Pancreas N/A heterozygote 0.0% (0 of 2)
Parathyroid gland N/A heterozygote 0.0% (0 of 2)
Peripheral nervous system N/A heterozygote 0.0% (0 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Pituitary gland N/A heterozygote 0.0% (0 of 2)
Prostate gland N/A heterozygote 0.0% (0 of 2)
Skeletal muscle tissue N/A heterozygote 0.0% (0 of 2)
Skin N/A heterozygote 0.0% (0 of 2)
Small intestine N/A heterozygote 0.0% (0 of 2)
Spinal cord N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach N/A heterozygote 0.0% (0 of 2)
Striatum N/A heterozygote Not available
Testis N/A heterozygote 50% (1 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 0.0% (0 of 2)
Trachea N/A heterozygote 0.0% (0 of 2)
Uterus N/A heterozygote 0.0% (0 of 2)
White adipose tissue N/A heterozygote 0.0% (0 of 2)
No Embryo expression data was found for this gene.

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.68% (4 of 584)
aorta 0.17% (1 of 584)
blood vessel 0.0%
bone 0.0%
brain 0.68% (4 of 584)
brainstem 0.34% (2 of 584)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 584)
cerebellum 0.51% (3 of 584)
cerebral cortex 0.34% (2 of 584)
eye 0.0%
gall bladder 0.0%
heart 0.34% (2 of 584)
hippocampus 0.51% (3 of 584)
hypothalamus 0.34% (2 of 584)
kidney 3.6% (21 of 584)
large intestine 1.71% (10 of 584)
liver 0.0%
lower urinary tract 0.17% (1 of 584)
lung 0.34% (2 of 584)
lymph node 0.17% (1 of 584)
mammary gland 0.0%
oesophagus 0.0%
olfactory lobe 0.34% (2 of 584)
ovary 0.17% (1 of 584)
oviduct 0.0%
pancreas 0.86% (5 of 584)
parathyroid gland 0.18% (1 of 562)
peripheral nervous system 0.34% (2 of 584)
peyer's patch 0.57% (1 of 176)
pituitary gland 0.17% (1 of 584)
prostate gland 2.05% (12 of 584)
skeletal muscle tissue 0.0%
skin 0.17% (1 of 584)
small intestine 1.54% (9 of 584)
spinal cord 0.51% (3 of 584)
spleen 0.51% (3 of 584)
stomach 2.05% (12 of 584)
striatum 0.51% (3 of 584)
testis 1.03% (6 of 584)
thymus 0.17% (1 of 584)
thyroid gland 2.74% (16 of 584)
trachea 0.51% (3 of 584)
uterus 0.0%
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

Associated Images

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

Legacy Phenotype Associated Images

View all 68 images

Human diseases caused by Mfsd2b 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 Mfsd2b by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Sitosterolemia 1
Impaired platelet aggregation, Hypercholesterolemia, Episodic hemolytic anemia, Chronic hemolytic... OMIM:210250
Hemoglobin E-Beta-Thalassemia Syndrome
Increased circulating ferritin concentration, Abnormal hemoglobin, Anemia ORPHA:231249
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Decreased mean corpuscular hemoglobin concentration, Stomatocytosis, Reticulocy... ORPHA:3203
Solute carrier family 4 (anion exchanger), member 1
Hemolytic anemia, Elliptocytosis, Stomatocytosis, Reticulocytosis, Jaundice, Splenomegaly, Acanth... OMIM:109270
Cryohydrocytosis
Reticulocytosis, Hemolytic anemia, Stomatocytosis, Splenomegaly OMIM:185020
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Stomatocytosis, Reticulocytosis, Hepatomegaly, Jaundice, Splenomegaly OMIM:185000
Diamond-Blackfan Anemia 5
Erythroid hypoplasia, Macrocytic anemia, Leukopenia, Reticulocytopenia OMIM:612528
Diamond-Blackfan Anemia 4
Erythroid hypoplasia, Macrocytic anemia, Neutropenia, Reticulocytopenia OMIM:612527
Diamond-Blackfan Anemia 12
Elevated red cell adenosine deaminase level, Normochromic anemia, Macrocytic anemia, Reticulocyto... OMIM:615550
Hereditary Elliptocytosis
Hemolytic anemia, Elliptocytosis, Stomatocytosis, Reticulocytosis, Abnormal erythrocyte morpholog... ORPHA:288
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Fetal Cytomegalovirus Syndrome
Hepatomegaly, Anemia, Splenomegaly ORPHA:294
Diamond-Blackfan Anemia 3
Increased mean corpuscular volume, Macrocytic anemia, Persistence of hemoglobin F, Reticulocytopenia OMIM:610629
Familial Pseudohyperkalemia
Reticulocytosis, Episodic hemolytic anemia, Stomatocytosis, Increased mean corpuscular volume ORPHA:90044
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To
Elevated red cell adenosine deaminase level, Anisopoikilocytosis, Hemolytic anemia, Stomatocytosis OMIM:102730
Anemia, Congenital Dyserythropoietic, Type Ib
Reticulocytosis, Erythroid hyperplasia, Hepatomegaly, Jaundice, Anisocytosis, Anemia of inadequat... OMIM:615631
Aregenerative Anemia
Erythroid hypoplasia, Decreased proportion of CD4-positive helper T cells, Neutropenia, Reticuloc... ORPHA:101096
Idiopathic Aplastic Anemia
Neutropenia, Reticulocytopenia, Thrombocytopenia, Pancytopenia, Anemia, Bone marrow hypocellularity ORPHA:88
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hypochromia, Hepatomegaly, Anemia, Splenomegaly, Decreased mean corpuscular volume, Poikilocytosis OMIM:615234
Immunodeficiency 18
Decreased proportion of CD3-positive T cells, Lymphopenia, Recurrent otitis media, Defective T ce... OMIM:615615
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Chronic hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Congenital hemolytic ... ORPHA:766
Anemia, Congenital Dyserythropoietic, Type Ia
Macrocytic dyserythropoietic anemia, Reticulocytosis, Erythroid hyperplasia, Prolonged neonatal j... OMIM:224120
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive
T lymphocytopenia, Pneumonia, Hepatomegaly, Splenomegaly, Eczema, Otitis media, Lymphadenopathy OMIM:608971
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Reticulocytopenia, Anisopoikilocytosis, Dysplastic erythropoesis, Anemia, Elevated hepatic iron c... ORPHA:300298
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
T lymphocytopenia ORPHA:169095
Immunodeficiency 24
Partial absence of specific antibody response to tetanus vaccine, Defective T cell proliferation,... OMIM:615897
Transcobalamin Ii Deficiency
Neutropenia, Reticulocytopenia, Pancytopenia, Decreased circulating IgA level, Decreased circulat... OMIM:275350
Dehydrated Hereditary Stomatocytosis 2
Hemolytic anemia, Increased mean corpuscular hemoglobin concentration, Reticulocytosis, Hepatomeg... OMIM:616689
Rh-Null, Regulator Type
Jaundice, Hemolytic anemia, Stomatocytosis OMIM:268150
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Hemolytic anemia, Increased mean platelet volume, Stomatocytosis, Splenomegaly OMIM:153670
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Increased circulating antibody level, Extramedullary hematopoiesis, Neutropenia, Thrombocytopenia... OMIM:615285
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Impaired platelet aggregation, Elliptocytosis, Increased hemoglobin, Abnormal erythrocyte morphol... OMIM:300835
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
T lymphocytopenia, Decreased circulating IgG level OMIM:242870
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Cutaneous anergy, Decreased helper T cell proportion, Pancytopenia, Hypersplenism, Splenomegaly OMIM:183350
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Oval macrocytosis, Anisocytosis, Poikilocytosis, Anemia of inadequate production OMIM:603529
Cernunnos-Xlf Deficiency
T lymphocytopenia, Decreased circulating antibody level, Lymphopenia, Thrombocytopenia, B lymphoc... ORPHA:169079
Hemoglobin H Disease
Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin, Splenomegaly OMIM:613978
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Lymphopenia, Panniculitis, Neutropenia, Reticulocytopenia, Thrombocytopenia, B lymphocytopenia, A... ORPHA:508542
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Neutropenia, Thrombocytopenia, Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpu... OMIM:619041
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Thrombocytopenia, Splenomegaly, Anemia, Abnormal platelet function, Abnormal hemoglobin ORPHA:231393
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Lymphopenia, Recurren... ORPHA:444463
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Hypochromic anemia, Macrothrombocytopenia, Anisocytosis, Anemia of inadequate production, Poikilo... ORPHA:67044
Acetophenetidin Sensitivity
Methemoglobinemia, Hemolytic anemia OMIM:200300
Delta-Beta-Thalassemia
Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231237
Immunodeficiency 14A, Autosomal Dominant
Decreased proportion of class-switched memory B cells, T lymphocytopenia, Increased circulating I... OMIM:615513
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hemophagocytosis, Skin rash, Neutropenia, Thrombocytopenia, Jaundice, Hepatomegaly, Hypertriglyce... OMIM:603552
Woronets Trait
Red blood cell keratocytosis OMIM:194320
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231242
Immunodeficiency 76
T lymphocytopenia, Recurrent pneumonia, Lymphopenia, Colitis, B lymphocytopenia, Splenomegaly, Ly... OMIM:619164
Combined Cellular And Humoral Immune Defects With Granulomas
T lymphocytopenia, Decreased circulating IgG level, B lymphocytopenia OMIM:233650
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Hepatomegaly, Anemia, Persistence of hemoglobin F, Splenomegaly ORPHA:46532
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hemophagocytosis, Abnormal natural killer cell physiology, Decreased circulating antibody level, ... OMIM:613101
Immunodeficiency 52
Coombs-positive hemolytic anemia, Recurrent pneumonia, Autoimmune thrombocytopenia, Bronchiectasi... OMIM:617514
Hyperbilirubinemia, Shunt, Primary
Reticulocytosis, Erythroid hyperplasia, Hepatomegaly, Jaundice, Splenomegaly, Anemia of inadequat... OMIM:237800
Proteasome-Associated Autoinflammatory Syndrome 5
Hepatomegaly, Hypertriglyceridemia, Skin rash, Splenomegaly OMIM:619175
Apolipoprotein A-I Deficiency
Lymphadenopathy, Abnormality of the liver, Anemia, Splenomegaly ORPHA:425
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
T lymphocytopenia, Atopic dermatitis, Abnormally low T cell receptor excision circle level, Pneum... OMIM:618806
Immunodeficiency 15A
Cutaneous abscess, Decreased proportion of CD8-positive T cells, Decreased proportion of memory B... OMIM:618204
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Thrombocytopenia, Acute myeloid leukemia, Increased mean corpuscular volume OMIM:252270
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Fava bean-induced hemolytic anemia, Reticulocytosis, Leukocytosis, Prolonged neonatal jaundice, A... OMIM:300908
Sickle Cell Anemia
Iron deficiency anemia, Hypochromic anemia, Thrombocytosis, Hemolytic anemia, Chronic hemolytic a... ORPHA:232
Anemia, Congenital Dyserythropoietic, Type Iv
Reticulocytosis, Erythroid hyperplasia, Hepatomegaly, Splenomegaly, Anemia, Anemia of inadequate ... OMIM:613673
Trimethylaminuria
Recurrent pneumonia, Neutropenia, Anemia, Splenomegaly OMIM:602079
Erythroleukemia, Familial, Susceptibility To
Erythroid hyperplasia, Thrombocytopenia, Acute myeloid leukemia, Hepatomegaly, Anemia, Splenomega... OMIM:133180
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Absent tonsils, T lymphocytopenia, Increased circulating IgE level, Lymphopenia, Lack of T cell f... ORPHA:277
Spherocytosis, Type 5
Hemolytic anemia, Reticulocytosis, Jaundice, Splenomegaly, Spherocytosis OMIM:612690
Lymphoproliferative Syndrome, X-Linked, 2
Inflammation of the large intestine, Hemophagocytosis, Folliculitis, Acne, Decreased circulating ... OMIM:300635
Spherocytosis, Type 2
Hemolytic anemia, Reticulocytosis, Jaundice, Splenomegaly, Acanthocytosis, Spherocytosis OMIM:616649
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Hepatomegaly, Splenomegaly ORPHA:2274
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Autoimmune hemolytic anemia, Increased circulating antibody level, Recurrent otitis media, Hepato... OMIM:618495
Immunodeficiency 69
Skin rash, Thrombocytosis, Leukocytosis, Pancytopenia, Anemia, Splenomegaly, Hepatosplenomegaly OMIM:618963
Familial Lambdoid Synostosis
Stomatocytosis ORPHA:3267
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Abnormally low T cell receptor excision circle level, B lymphocytopenia, Decreased circulating to... OMIM:618987
Immunodeficiency, Common Variable, 1
Decreased proportion of class-switched memory B cells, Recurrent pneumonia, Bronchiectasis, Recur... OMIM:607594
Hemophagocytic Lymphohistiocytosis, Familial, 3
Hemophagocytosis, Hypertriglyceridemia, Granulocytopenia, Anemia, Hepatosplenomegaly, Reduced nat... OMIM:608898
Dehydrated Hereditary Stomatocytosis
Nonspherocytic hemolytic anemia, Increased hemoglobin concentration, Hemolytic anemia, Increased ... ORPHA:3202
Diamond-Blackfan Anemia 10
Reticulocytopenia, Anemia, Macrocytic anemia OMIM:613309
Glycoprotein Storage Disease
Gout, Splenomegaly OMIM:232900
Thrombocytopenia, Anemia, And Myelofibrosis
Thrombocytopenia, Anisopoikilocytosis, Anemia, Splenomegaly OMIM:617441
Bone Marrow Failure Syndrome 6
Persistence of hemoglobin F, Lymphopenia, Recurrent sinusitis, Neutropenia, Anemia, Increased mea... OMIM:618849
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
T lymphocytopenia, Purulent rhinitis, Panhypogammaglobulinemia, Pneumonia, Conjunctivitis, B lymp... OMIM:601457
Fanconi Anemia, Complementation Group E
Neutropenia, Reticulocytopenia, Pancytopenia, Thrombocytopenia, Anemia, Leukemia OMIM:600901
Spherocytosis, Type 4
Hemolytic anemia, Reticulocytosis, Jaundice, Splenomegaly, Spherocytosis OMIM:612653
Primary Myelofibrosis
Poikilocytosis, Thrombocytosis, Leukocytosis, Extramedullary hematopoiesis, Pancytopenia, Thrombo... ORPHA:824
Congenital Amegakaryocytic Thrombocytopenia
Thrombocytopenia, Abnormal hemoglobin, Anemia ORPHA:3319
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, Recurrent pneumonia, Intermittent thrombocytopenia, Bronchiectasis, Chron... OMIM:150550
Cyanosis, Transient Neonatal
Reticulocytosis, Hepatomegaly, Jaundice, Anemia, Methemoglobinemia OMIM:613977
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Nonspherocytic hemolytic anemia, Jaundice, Splenomegaly OMIM:206400
Ras-Associated Autoimmune Leukoproliferative Disorder
Lymphocytosis, Monocytosis, Hemolytic anemia, Autoimmune thrombocytopenia, Increased circulating ... OMIM:614470
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased CD69 upregulation upon TCR activation, Autoimmune thrombocytopenia, Decreased specific ... OMIM:300853
Fanconi Anemia, Complementation Group A
Neutropenia, Reticulocytopenia, Pancytopenia, Thrombocytopenia, Anemia, Leukemia OMIM:227650
Iron-Refractory Iron Deficiency Anemia
Hypochromic microcytic anemia, Anisocytosis, Poikilocytosis OMIM:206200
Persistent Polyclonal B-Cell Lymphocytosis
Hepatomegaly, Lymphocytosis, Decreased circulating total IgM, Splenomegaly OMIM:606445
Immunodeficiency 48
Eczematoid dermatitis, Panhypogammaglobulinemia, Pneumonia, Hepatomegaly, Splenomegaly OMIM:269840
Immunodeficiency 13
T lymphocytopenia, Bronchiectasis, Lymphopenia, Decreased proportion of CD4-positive helper T cel... OMIM:615518
Agammaglobulinemia 8, Autosomal Dominant
Recurrent otitis media, B lymphocytopenia, Agammaglobulinemia OMIM:616941
Sea-Blue Histiocyte Disease
Thrombocytopenia, Cirrhosis, Sea-blue histiocytosis, Splenomegaly OMIM:269600
Mu-Heavy Chain Disease
Increased circulating antibody level, Hepatomegaly, Abnormal B cell count, Anemia, Splenomegaly, ... ORPHA:100024
Fanconi Anemia, Complementation Group C
Neutropenia, Reticulocytopenia, Pancytopenia, Thrombocytopenia, Anemia, Leukemia, Bone marrow hyp... OMIM:227645
Alpha-Thalassemia Myelodysplasia Syndrome
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:300448
Spherocytosis, Type 1
Hemolytic anemia, Reticulocytosis, Cholelithiasis, Jaundice, Splenomegaly, Spherocytosis OMIM:182900
Immunodeficiency 16
Coombs-positive hemolytic anemia, Pancytopenia, Splenomegaly OMIM:615593
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia
Acanthocytosis, Congenital thrombocytopenia, Poikilocytosis, Anemia of inadequate production OMIM:300367
Immunodeficiency 64
Abnormal CD4:CD8 ratio, Increased circulating IgM level, Increased proportion autoreactive unresp... OMIM:618534
Hereditary Cryohydrocytosis With Reduced Stomatin
Jaundice, Hepatosplenomegaly, Spontaneous hemolytic crises, Stomatocytosis ORPHA:168577
Red Cell Phospholipid Defect With Hemolysis
Reticulocytosis, Intermittent jaundice, Splenomegaly OMIM:179700
Omenn Syndrome
Severe B lymphocytopenia, Erythroderma, Pneumonia, Thrombocytopenia, Hypoplasia of the thymus, He... OMIM:603554
Severe Combined Immunodeficiency, X-Linked
T lymphocytopenia, Skin rash, Chronic oral candidiasis, Decreased circulating IgE, Impaired lymph... OMIM:300400
Combined Immunodeficiency Due To Partial Rag1 Deficiency
T lymphocytopenia, Interstitial pneumonitis, Autoimmune hemolytic anemia, Neutropenia in presence... ORPHA:231154
Intrinsic Factor Deficiency
Megaloblastic anemia, Megaloblastic erythroid hyperplasia, Increased mean corpuscular volume OMIM:261000
Diamond-Blackfan Anemia 8
Increased mean corpuscular volume, Neutropenia, Macrocytic anemia OMIM:612563
Acquired Idiopathic Sideroblastic Anemia
Hypochromic anemia, Thrombocytosis, Leukocytosis, Erythroid hyperplasia, Neutropenia, Hyposegment... ORPHA:75564
Myelolymphatic Insufficiency
Hyposegmentation of neutrophil nuclei, Leukopenia OMIM:310350
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
T lymphocytopenia, Decreased helper T cell proportion OMIM:601705
Blackfan-Diamond Anemia
Elevated red cell adenosine deaminase level, Erythroid hypoplasia, Pure red cell aplasia, Thrombo... ORPHA:124
Autoimmune Hemolytic Anemia, Cold Type
Abnormal leukocyte morphology, Hemolytic anemia, Splenomegaly ORPHA:228312
Hemolytic Poikilocytic Anemia Due To Reduced Ankyrin Binding Sites
Nonspherocytic hemolytic anemia, Heinz body anemia, Elliptocytosis, Poikilocytosis OMIM:141700
Immunodeficiency 14B, Autosomal Recessive
Inflammation of the large intestine, Monocytosis, Thrombocytosis, Leukocytosis, Decreased circula... OMIM:619281
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Partial absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine, T l... OMIM:618986
Pancytopenia And Occlusive Vascular Disease
Thrombocytopenia, Leukopenia, Pancytopenia, Anemia OMIM:167850
Combined Immunodeficiency, X-Linked
Decreased proportion of CD8-positive T cells, Decreased proportion of CD4-positive helper T cells... OMIM:312863
Immunodeficiency 50
Decreased circulating antibody level, Lymphopenia, Neutropenia, Eczema OMIM:300988
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Increased circulating IgM level, Autoimmune thrombocytopenia, Bronchiectasis, Autoimmune hemolyti... OMIM:619220
Reticular Dysgenesis
Congenital agranulocytosis, Lymphopenia, Lack of T cell function, Hypoplasia of the thymus, Impai... OMIM:267500
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Autoimmune hemolytic anemia, Increased circulating antibody level, Lymphopenia, Plasmacytosis, Pn... OMIM:247800
Niemann-Pick Disease, Type B
Bone-marrow foam cells, Sea-blue histiocytosis, Hypertriglyceridemia, Hepatomegaly, Splenomegaly OMIM:607616
Acute Erythroid Leukemia
Erythroid hypoplasia, Pancytopenia, Leukopenia, Anemia, Bone marrow hypocellularity ORPHA:318
Anemia, Congenital Dyserythropoietic, Type Ii
Reticulocytosis, Cholelithiasis, Jaundice, Anemia of inadequate production, Splenomegaly OMIM:224100
Glutamate-Cysteine Ligase Deficiency
Reticulocytosis, Jaundice, Hepatosplenomegaly, Hemolytic anemia ORPHA:33574
Autoimmune Lymphoproliferative Syndrome, Type Iii
Decreased proportion of class-switched memory B cells, Increased proportion autoreactive unrespon... OMIM:615559
Immunodeficiency 27A
Thrombocytosis, Increased circulating IgM level, Increased inflammatory response, Leukocytosis, S... OMIM:209950
Hemochromatosis, Type 2B
Increased circulating ferritin concentration, Abnormality of iron homeostasis, Anemia, Splenomega... OMIM:613313
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Neutropenia, Thrombocytopenia, HbH hemoglobin, Splenomegaly, Acute leukemia ORPHA:231401
Bone Marrow Failure Syndrome 2
Thrombocytopenia, Anemia, Bone marrow hypocellularity, Leukopenia OMIM:615715
Immunodeficiency 57 With Autoinflammation
Partial absence of specific antibody response to tetanus vaccine, T lymphocytopenia, Inflammation... OMIM:618108
Hereditary Spherocytosis
Increased mean corpuscular hemoglobin concentration, Reticulocytosis, Extramedullary hematopoiesi... ORPHA:822
Autoimmune Lymphoproliferative Syndrome
Iron deficiency anemia, Coombs-positive hemolytic anemia, Elevated proportion of CD4-negative, CD... OMIM:601859
Fanconi Anemia, Complementation Group D2
Neutropenia, Reticulocytopenia, Pancytopenia, Thrombocytopenia, Anemia, Leukemia, Bone marrow hyp... OMIM:227646
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... ORPHA:70593
Short Fifth Metacarpals-Insulin Resistance Syndrome
Spherocytosis, Splenomegaly ORPHA:66518
Ataxia-Pancytopenia Syndrome
Abnormal platelet function, Abnormality of neutrophils, Abnormal macrophage morphology, Acute mye... ORPHA:2585
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Decreased proportion of class-switched memory B cells, Coombs-positive hemolytic anemia, Autoimmu... OMIM:619375
B-Cell Expansion With Nfkb And T-Cell Anergy
Decreased specific antibody response to polysaccharide vaccine, Splenomegaly, Decreased circulati... OMIM:616452
Elliptocytosis 3
Chronic hemolytic anemia, Elliptocytosis, Intermittent jaundice, Pyropoikilocytosis, Decreased me... OMIM:617948
Elliptocytosis 1
Jaundice, Hemolytic anemia, Elliptocytosis, Splenomegaly OMIM:611804
Immunodeficiency 47
Cirrhosis, Hepatic steatosis, Decreased circulating antibody level, Hepatomegaly, Prolonged neona... OMIM:300972
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Lymphocytosis, T lymphocytopenia, Increased circulating IgE level, Decreased proportion of CD8-po... ORPHA:169154
Pyropoikilocytosis, Hereditary
Microspherocytosis, Hemolytic anemia, Elliptocytosis, Pyropoikilocytosis OMIM:266140
Hypertriglyceridemia, Transient Infantile
Hepatic steatosis, Hepatic fibrosis, Hypertriglyceridemia, Hepatomegaly, Splenomegaly OMIM:614480
Agammaglobulinemia 1, Autosomal Recessive
Bronchiectasis, Decreased circulating antibody level, Recurrent otitis media, Recurrent sinusitis... OMIM:601495
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
T lymphocytopenia DECIPHER:16
Lymphoid System Deterioration, Progressive
Decreased circulating total IgM, Abnormal T cell morphology, Lymphopenia, Decreased circulating I... OMIM:247630
Wiskott-Aldrich Syndrome 2
Defective T cell proliferation, Decreased proportion of CD8-positive T cells, Thrombocytopenia, E... OMIM:614493
Alpha-Thalassemia
Hemolytic anemia, Microcytic anemia, Cholelithiasis, Jaundice, Anemia, Splenomegaly, Hypersplenis... ORPHA:846
Schnitzler Syndrome
Skin rash, Increased circulating IgM level, Leukocytosis, Hepatomegaly, Anemia, Splenomegaly, Lym... ORPHA:37748
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Hemophagocytosis, Panniculitis, Pancytopenia, Hypertriglyceridemia, Anemia, Splenomegaly OMIM:618398
Immunodeficiency 72 With Autoinflammation
Increased circulating IgE level, Bronchiectasis, Recurrent otitis media, Increased circulating Ig... OMIM:618982
Immunodeficiency, Common Variable, 13
Pancytopenia, Decreased circulating antibody level, Acute lymphoblastic leukemia, B lymphocytopenia OMIM:616873
Lymphoproliferative Syndrome, X-Linked, 1
Lymphocytosis, Hemophagocytosis, Increased circulating IgM level, Decreased circulating antibody ... OMIM:308240
Combined Immunodeficiency Due To Dock8 Deficiency
T lymphocytopenia, Atopic dermatitis, Increased circulating IgE level, Recurrent bacterial skin i... ORPHA:217390
Immunodeficiency 75
Decreased proportion of class-switched memory B cells, Bronchiectasis, Follicular hyperplasia, He... OMIM:619126
Lymphoproliferative Syndrome 1
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Decreased circulating antibody level, D... OMIM:613011
Congenital Dyserythropoietic Anemia Type Iii
Abnormal erythrocyte morphology, Anisocytosis, Anemia, Increased mean corpuscular volume, Poikilo... ORPHA:98870
Autoimmune Lymphoproliferative Syndrome, Type Iia
Increased circulating IgG level, Increased B cell count, Lymphadenopathy, Eosinophilia, Iron defi... OMIM:603909
Orotic Aciduria
Hypochromia, Folate-unresponsive megaloblastic anemia, Anisocytosis, Impaired T cell function, Py... OMIM:258900
Polycythemia Vera
Thrombocytosis, Increased hematocrit, Leukocytosis, Increased hemoglobin, Thrombocytopenia, Incre... OMIM:263300
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Skin rash, Allergic rhinitis, Exocrine pancreatic insufficiency, Steatorrhea, Hepatomegaly, Jaund... OMIM:612714
Elliptocytosis 2
Reticulocytosis, Hemolytic anemia, Elliptocytosis OMIM:130600
Mantle Cell Lymphoma
Lymphadenopathy, Splenomegaly ORPHA:52416
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Monocytosis, Acute myeloid leukemia, Leukopenia, Refractory anemia, Eczema, Bone marrow hypocellu... OMIM:616871
Immunodeficiency 68
T lymphocytopenia, Lymphadenitis, Abnormal natural killer cell count, Septic arthritis, B lymphoc... OMIM:612260
Osteopetrosis, Autosomal Recessive 4
Reticulocytosis, Thrombocytopenia, Hepatomegaly, Anemia, Splenomegaly, Hepatosplenomegaly OMIM:611490
Autoimmune Lymphoproliferative Syndrome, Type V
Autoimmune thrombocytopenia, Bronchiectasis, Autoimmune hemolytic anemia, Decreased circulating a... OMIM:616100
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, B lymphocytopenia, Neutropenia OMIM:613107
Alpha-Heavy Chain Disease
Hepatomegaly, Dysgammaglobulinemia, Ascites, Anemia, Splenomegaly, Lymphadenopathy ORPHA:100025
Lcat Deficiency
Hemolytic anemia, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Lymphadenopathy ORPHA:650
Proteasome-Associated Autoinflammatory Syndrome 3
Skin rash, Increased circulating antibody level, Lymphopenia, Panniculitis, Thrombocytopenia, Hep... OMIM:617591
Autoinflammation With Episodic Fever And Lymphadenopathy
Recurrent tonsillitis, Microcytic anemia, Hepatomegaly, Splenomegaly, Lymphadenopathy OMIM:618852
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis
Hemolytic anemia, Elliptocytosis, Anemia of inadequate production OMIM:166910
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Nonspherocytic hemolytic anemia, Reticulocytosis, Cholecystitis, Cholelithiasis, Normocytic anemi... OMIM:235700
Caspase 8 Deficiency
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:607271
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Chronic hemolytic anemia, Hepatocellular necrosis, Elliptocytosis, Reticulocytosis, Hepatomegaly,... OMIM:618278
Megaloblastic Anemia, Folate-Responsive
Hypersegmentation of neutrophil nuclei, Episodic hemolytic anemia, Folate-responsive megaloblasti... OMIM:601775
Ghosal Hematodiaphyseal Dysplasia
Anemia, Splenomegaly ORPHA:1802
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Splenomegaly, Recurrent pancreatitis OMIM:118830
Thrombocytopenia With Beta-Thalassemia, X-Linked
Reticulocytosis, Thrombocytopenia, Hemolytic anemia, Splenomegaly OMIM:314050
Immunodeficiency 25
T lymphocytopenia, Recurrent pneumonia, Increased circulating IgM level, Increased circulating Ig... OMIM:610163
Adenosine Triphosphate, Elevated, Of Erythrocytes
Polycythemia, Reduced erythrocyte 2,3-diphosphoglycerate concentration OMIM:102900
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Erythroid hypoplasia, Thrombocytosis, Abnormal erythrocyte morphology, Bone marrow hypocellularit... ORPHA:86841
Leishmaniasis
Abnormal macrophage morphology, Increased circulating antibody level, Pancytopenia, Thrombocytope... ORPHA:507
Diamond-Blackfan Anemia 1
Elevated red cell adenosine deaminase level, Thrombocytosis, Congenital hypoplastic anemia, Neutr... OMIM:105650
Spherocytosis, Type 3
Spherocytosis, Hemolytic anemia OMIM:270970
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
T lymphocytopenia, Hemolytic anemia, Increased circulating IgE level, Decreased specific anti-pol... OMIM:606367
Oslam Syndrome
Abnormality of neutrophils, Increased mean corpuscular volume ORPHA:2760
Thrombocythemia 1
Thrombocytosis, Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced platelet ... OMIM:187950
Hypobetalipoproteinemia, Familial, 1
Acanthocytosis OMIM:615558
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Severe B lymphocytopenia, Aplasia of the thymus, Increased circulating IgE level, Autoimmune thro... OMIM:102700
Leukocyte Adhesion Deficiency, Type Iii
Leukocytosis, Extramedullary hematopoiesis, Hepatomegaly, Recurrent skin infections, Anemia, Sple... OMIM:612840
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Cirrhosis, Hypochromia, Erythroid hyperplasia, Hepatomegaly, Jaundice, Anisocytosis, Anemia, Sple... OMIM:616860
Immunodeficiency 70
Decreased circulating antibody level, Decreased proportion of CD4-positive helper T cells, Recurr... OMIM:618969
Gray Platelet Syndrome
Thrombocytopenia, Splenomegaly ORPHA:721
Cholestasis-Lymphedema Syndrome
Cirrhosis, Neonatal cholestatic liver disease, Hepatomegaly, Jaundice, Erysipelas, Splenomegaly, ... OMIM:214900
Immunodeficiency By Defective Expression Of Mhc Class Ii
T lymphocytopenia, Abnormal CD4:CD8 ratio, Chronic hepatitis due to cryptosporidium infection, Sk... ORPHA:572
Immunodeficiency, Common Variable, 8, With Autoimmunity
Bronchiectasis, Decreased specific antibody response to vaccination, Thyroiditis, Generalized lym... OMIM:614700
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Hypochromic microcytic anemia, Decreased circulating antibody level, Sideroblastic anemia, B lymp... OMIM:616084
X-Linked Sideroblastic Anemia
Abnormality of iron homeostasis, Anemia, Splenomegaly ORPHA:75563
Retinitis Pigmentosa And Erythrocytic Microcytosis
Elliptocytosis, Anisocytosis, Anemia, Decreased mean corpuscular volume, Poikilocytosis OMIM:616959
Osteopetrosis, Autosomal Recessive 8
Thrombocytopenia, Splenomegaly, Anemia, Hepatomegaly OMIM:615085
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Skin rash, Lymphadenitis, Autoimmune hemolytic anemia, Decreased proportion of CD3-positive T cel... ORPHA:331206
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Microangiopathic hemolytic anemia, Reticulocytosis, Hyperlipidemia, Thrombocytopenia, Schistocytosis OMIM:235400
Iron Overload In Africa
Elevated transferrin saturation OMIM:601195
X-Linked Lymphoproliferative Disease
Lymphocytosis, Pancytopenia, Histiocytosis, Increased B cell count, Myocarditis, Lymphadenopathy,... ORPHA:2442
Immunodeficiency 81
Decreased proportion of class-switched memory B cells, Skin rash, Autoimmune hemolytic anemia, Re... OMIM:619374
Immunodeficiency 60
Decreased proportion of memory B cells, Bronchiectasis, Decreased circulating IgE, Decreased baso... OMIM:618394
Beta-Thalassemia
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Alpha-Thalassemia
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio OMIM:604131
Lysosomal Acid Lipase Deficiency
Bone-marrow foam cells, Cirrhosis, Hypercholesterolemia, Vacuolated lymphocytes, Increased hepati... OMIM:278000
Bone Marrow Failure Syndrome 4
Decreased circulating antibody level, Thrombocytopenia, Anemia, Leukopenia, Eczema, Bone marrow h... OMIM:618116
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Recurrent pneumonia, Recurrent tonsillitis, Hemolytic anemia, Lymphadenitis, Lymphopenia, Impaire... OMIM:618935
Hyperlipoproteinemia, Type Id
Hepatomegaly, Colitis, Splenomegaly OMIM:615947
Erythrocytosis, Familial, 8
Nonspherocytic hemolytic anemia, Cholecystitis, Polycythemia, Cholelithiasis, Normocytic anemia, ... OMIM:222800
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
T lymphocytopenia, Impaired lymphocyte transformation with phytohemagglutinin, Hypoplasia of the ... OMIM:619313
Mcleod Syndrome
Hepatosplenomegaly, Abnormal erythrocyte morphology, Acanthocytosis OMIM:300842
Chylomicron Retention Disease
Hepatic steatosis, Increased hepatocellular lipid droplets, Steatorrhea, Hypocholesterolemia, Aca... ORPHA:71
Beta-Thalassemia
Abnormality of iron homeostasis, Microcytic anemia, Thrombocytopenia, Anemia, Splenomegaly, Abnor... ORPHA:848
Mast Cell Sarcoma
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Mastocytosis, Lymphadenopathy ORPHA:66661
Familial Cold Autoinflammatory Syndrome 2
Skin rash, Leukocytosis, Lymphadenopathy, Splenomegaly, Recurrent aphthous stomatitis, Erythema n... OMIM:611762
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Recurrent pneumonia, Thrombocytosis, Megaloblastic anemia, Decreased circulating antibody level, ... OMIM:617780
Hypereosinophilic Syndrome, Idiopathic
Hepatomegaly, Myeloproliferative disorder, Eosinophilia, Splenomegaly OMIM:607685
Ovalocytosis, Southeast Asian
Hemolytic anemia, Elliptocytosis OMIM:166900
Autoinflammation With Infantile Enterocolitis
Skin rash, Pancytopenia, Reduced natural killer cell count, Thrombocytopenia, Anemia, Splenomegal... OMIM:616050
Hypoprebetalipoproteinemia, Acanthocytosis, Retinitis Pigmentosa, And Pallidal Degeneration
Acanthocytosis OMIM:607236
Chronic Myeloid Leukemia
Thrombocytosis, Abnormal basophil morphology, Leukocytosis, Abnormal granulocyte morphology, Thro... ORPHA:521
Griscelli Syndrome Type 2
Hemophagocytosis, Neutropenia, Pancytopenia, Jaundice, Hepatomegaly, Splenomegaly, Hyperlipidemia... ORPHA:79477
Harderoporphyria
Hemolytic anemia, Reticulocytosis, Prolonged neonatal jaundice, Hepatomegaly, Splenomegaly OMIM:618892
Lymphoproliferative Syndrome 2
Hemophagocytosis, Recurrent pneumonia, Decreased circulating antibody level, Uveitis, Pancytopeni... OMIM:615122
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Increased mean corpuscular hemoglobin concentration, Reticulocytosis, Increased red cell hemolysi... OMIM:194380
Shwachman-Diamond Syndrome
Skin rash, Neutropenia, Pneumonia, Pancytopenia, Pancreatic hypoplasia, Anemia, Leukopenia, Sinus... ORPHA:811
Pgm3-Cdg
Cutaneous abscess, Bronchiectasis, Decreased proportion of CD4-positive helper T cells, Neutropen... ORPHA:443811
Wolman Disease
Bone-marrow foam cells, Steatorrhea, Hepatomegaly, Ascites, Anemia, Splenomegaly ORPHA:75233
Copper Deficiency, Familial Benign
Abnormal circulating copper concentration, Decreased circulating copper concentration, Curly hair... OMIM:121270
Transcobalamin Deficiency
Decreased circulating antibody level, Lymphopenia, Neutropenia, Thrombocytopenia, Pancytopenia, D... ORPHA:859
Immunodeficiency With Hyper-Igm, Type 1
Impaired memory B cell generation, Cirrhosis, Increased circulating IgM level, Hemolytic anemia, ... OMIM:308230
Reticular Dysgenesis
Skin rash, Abnormality of neutrophils, Decreased circulating antibody level, Chronic otitis media... ORPHA:33355
Glycogen Storage Disease Vii
Hemolytic anemia, Reticulocytosis, Reduced erythrocyte 2,3-diphosphoglycerate concentration, Chol... OMIM:232800
Indolent Systemic Mastocytosis
Increased proportion of CD25+ mast cells, Skin rash, Maculopapular exanthema, Hepatomegaly, Splen... ORPHA:98848
Developmental And Epileptic Encephalopathy 50
Anisopoikilocytosis, Schistocytosis, Anemia, Acanthocytosis OMIM:616457
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
T lymphocytopenia, Skin rash, Pustule, Absent natural killer cells, Chronic oral candidiasis, Par... ORPHA:35078
Aicardi-Goutieres Syndrome 7
Atopic dermatitis, Increased circulating antibody level, Thrombocytopenia, Hepatomegaly, Splenome... OMIM:615846
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
T lymphocytopenia, Decreased proportion of memory B cells, Panhypogammaglobulinemia, Abnormal nat... ORPHA:79124
Glut1 Deficiency Syndrome 2
Reticulocytosis OMIM:612126
Erythrocytosis, Familial, 5
Polycythemia, Increased hematocrit, Increased hemoglobin OMIM:617907
Erythrocytosis, Familial, 6
Polycythemia, Increased hematocrit, Increased hemoglobin OMIM:617980
Babesiosis
Hemolytic anemia, Thrombocytopenia, Jaundice, Hepatomegaly, Leukopenia, Splenomegaly ORPHA:108
Felty Syndrome
Recurrent pneumonia, Pericarditis, Abnormal lymphocyte morphology, Chronic otitis media, Neutrope... ORPHA:47612
Pyruvate Kinase Deficiency Of Red Cells
Chronic hemolytic anemia, Reticulocytosis, Cholecystitis, Cholelithiasis, Jaundice, Splenomegaly OMIM:266200
Macrocephaly/Autism Syndrome
Hepatomegaly, Decreased circulating antibody level, Lymphopenia, Splenomegaly OMIM:605309
Ichthyosis, Congenital, Autosomal Recessive 5
Erythroderma, Acanthocytosis OMIM:604777
Immunodeficiency, Common Variable, 2
Recurrent pneumonia, Partial absence of specific antibody response to unconjugated pneumococcus v... OMIM:240500
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Absent tonsils, Skin rash, Chronic oral candidiasis, Lymph node hypoplasia, Decreased proportion ... ORPHA:276
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Absent peripheral lymph nodes in presence of infection, T lymphocytopenia, Cutaneous anergy, Abse... OMIM:600802
Beta-Thalassemia Major
Hypochromic microcytic anemia, Cirrhosis, Decreased mean corpuscular hemoglobin concentration, Pe... ORPHA:231214
Erythrocytosis, Familial, 3
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin OMIM:609820
Erythrocytosis, Familial, 1
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin, Splenomegaly OMIM:133100
Encephalopathy Due To Prosaposin Deficiency
Hepatomegaly, Splenomegaly ORPHA:139406
Gamma-Heavy Chain Disease
Skin rash, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Abnormal lymphocyte morpholo... ORPHA:100026
Abetalipoproteinemia
Acanthocytosis OMIM:200100
Sea-Blue Histiocytosis
Thrombocytopenia, Sea-blue histiocytosis, Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy... ORPHA:158029
Gaucher Disease, Type Ii
Thrombocytopenia, Hepatomegaly, Anemia, Splenomegaly, Recurrent aspiration pneumonia OMIM:230900
Deafness-Lymphedema-Leukemia Syndrome
Myeloproliferative disorder, Leukocytosis, Chronic otitis media, Thrombocytopenia, Hepatomegaly, ... ORPHA:3226
Classic Mycosis Fungoides
Skin rash, Abnormal lymphocyte morphology, Hepatomegaly, Splenomegaly, Eczema, Lymphadenopathy ORPHA:2584
Thymoma
Skin rash, Hemolytic anemia, Pericarditis, Decreased circulating antibody level, Abnormal lymphoc... ORPHA:99867
Systemic Lupus Erythematosus
Hemolytic anemia, Pericarditis, Thrombocytopenia, Lupus nephritis, Malar rash, Leukopenia, Nephri... OMIM:152700
Amme Complex
Elliptocytosis OMIM:300194
Aicardi-Goutieres Syndrome 4
Pancytopenia, Thrombocytopenia, Hepatomegaly, Splenomegaly, Hepatosplenomegaly OMIM:610333
Lipodystrophy, Congenital Generalized, Type 3
Hypercholesterolemia, Hepatic steatosis, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hepato... OMIM:612526
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Neutropenia, Thrombocytopenia, Hepatomegaly, Splenomegaly, Pancreatitis, Anemia ORPHA:79312
Cholesteryl Ester Storage Disease
Hypercholesterolemia, Cirrhosis, Hepatomegaly, Jaundice, Hypertriglyceridemia, Splenomegaly ORPHA:75234
Familial Hemophagocytic Lymphohistiocytosis
Hemophagocytosis, Skin rash, Decreased circulating antibody level, Erythroderma, Neutropenia, Mac... ORPHA:540
Hb Bart'S Hydrops Fetalis
Pericarditis, Hepatomegaly, Anemia, Splenomegaly, Abnormal hemoglobin ORPHA:163596
Felty Syndrome
Rheumatoid arthritis, Neutropenia, Splenomegaly OMIM:134750
Thrombotic Thrombocytopenic Purpura, Hereditary
Microangiopathic hemolytic anemia, Reticulocytosis, Thrombocytopenia, Jaundice, Prolonged neonata... OMIM:274150
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Increased circulating IgM level, Increased circulating IgE level, Decreased proportion of CD8-pos... OMIM:617241
Autoimmune Lymphoproliferative Syndrome
Lymphocytosis, Abnormal proportion of CD4-positive T cells, Decreased specific anti-polysaccharid... ORPHA:3261
Epidermodysplasia Verruciformis, Susceptibility To, 5
T lymphocytopenia, Lymphopenia OMIM:618309
Immunodeficiency 36
Bronchiectasis, Decreased circulating antibody level, Lymphopenia, Chronic lymphatic leukemia, Sp... OMIM:616005
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Hepatomegaly, Splenomegaly OMIM:618541
Erythrocytosis, Familial, 4
Polycythemia, Increased hematocrit, Increased hemoglobin OMIM:611783
Diamond-Blackfan Anemia 6
Increased mean corpuscular volume, Persistence of hemoglobin F, Macrocytic anemia OMIM:612561
Thrombotic Thrombocytopenic Purpura
Reticulocytosis, Microangiopathic hemolytic anemia, Thrombocytopenia ORPHA:54057
Poikiloderma With Neutropenia
Recurrent otitis media, Recurrent sinusitis, Neutropenia, Conjunctivitis, Splenomegaly, Recurrent... OMIM:604173
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Absent tonsils, Decreased proportion of CD8-positive T cells, Decreased proportion of CD4-positiv... OMIM:611926
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Reticulocytosis, Decreased mean corpuscular volume, Hepatosplenomegaly, Hemolytic anemia OMIM:611590
Immunodeficiency 32B
Sinusitis, Pneumonia, Bronchiectasis, Splenomegaly OMIM:226990
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Nonspherocytic hemolytic anemia, Cholecystitis, Impaired neutrophil bactericidal activity, Cholel... OMIM:613470
Red Cell Permeability Defect
Elliptocytosis OMIM:179650
Congenital Disorder Of Glycosylation, Type Iio
Hypercholesterolemia, Cirrhosis, Hepatomegaly, Prolonged neonatal jaundice, Cholestatic liver dis... OMIM:616828
Farber Lipogranulomatosis
Hepatomegaly, Arthritis, Lipogranulomatosis, Splenomegaly OMIM:228000
Gaucher Disease, Type Iii
Pancytopenia, Thrombocytopenia, Splenomegaly, Hepatomegaly OMIM:231000
Purine Nucleoside Phosphorylase Deficiency
Pure red cell aplasia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Lymph node hypop... OMIM:613179
Neonatal Lupus Erythematosus
Skin rash, Hemolytic anemia, Neutropenia, Maculopapular exanthema, Pancytopenia, Thrombocytopenia... ORPHA:398124
Griscelli Syndrome
Abnormality of neutrophils, Decreased circulating antibody level, Thrombocytopenia, Jaundice, Hep... ORPHA:381
Combined Saposin Deficiency
Hepatomegaly, Splenomegaly OMIM:611721
Methylcobalamin Deficiency Type Cble
Neutropenia, Pancytopenia, Increased mean corpuscular volume, Abnormality of the liver, Macrocyti... ORPHA:2169
Omenn Syndrome
Leukocytosis, Thyroiditis, Abnormal lymphocyte morphology, Erythroderma, Pneumonia, Lymphadenopat... ORPHA:39041
Tyrosinemia Type 1
Hepatomegaly, Hepatocellular carcinoma, Splenomegaly ORPHA:882
Erythrocytosis, Familial, 7
Polycythemia, Increased hematocrit OMIM:617981
Phosphoglycerate Kinase 1 Deficiency
Reticulocytosis, Hemolytic anemia OMIM:300653
Sandhoff Disease
Hepatomegaly, Splenomegaly ORPHA:796
Osteopetrosis, Autosomal Dominant 3
Hepatomegaly, Anemia, Splenomegaly OMIM:618107
Congenital Erythropoietic Porphyria
Hemolytic anemia, Scleritis, Reticulocytosis, Seborrhoeic blepharitis, Recurrent bacterial skin i... ORPHA:79277
Hemochromatosis, Type 3
Increased circulating ferritin concentration, Lymphopenia, Neutropenia, Anemia, Increased serum iron OMIM:604250
Neonatal Severe Primary Hyperparathyroidism
Hepatomegaly, Splenomegaly ORPHA:417
Galactose Epimerase Deficiency
Hepatomegaly, Jaundice, Splenomegaly ORPHA:79238
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hemophagocytosis, Skin rash, Pancytopenia, Jaundice, Thrombocytopenia, Hepatomegaly, Splenomegaly... OMIM:603553
Gracile Syndrome
Increased circulating ferritin concentration, Increased serum pyruvate, Increased serum iron OMIM:603358
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Ascites, Anemia, Splenomegaly ORPHA:1046
Immunodeficiency, Common Variable, 7
Reduced isohemagglutinin level, Decreased circulating total IgG, Decreased circulating IgA level,... OMIM:614699
Congenital Rubella Syndrome
Skin rash, Thrombocytopenia, Jaundice, Hepatomegaly, Anemia, Splenomegaly ORPHA:290
Galactosemia Iii
Hepatomegaly, Jaundice, Splenomegaly OMIM:230350
Congenital Bile Acid Synthesis Defect Type 2
Cirrhosis, Neonatal cholestatic liver disease, Biliary tract abnormality, Hepatomegaly, Jaundice,... ORPHA:79303
Congenital Bile Acid Synthesis Defect Type 3
Neonatal cholestatic liver disease, Biliary tract abnormality, Hepatomegaly, Jaundice, Congenital... ORPHA:79302
Bile Acid Synthesis Defect, Congenital, 5
Iron deficiency anemia, Portal hypertension, Hepatomegaly, Jaundice, Hepatic fibrosis, Splenomega... OMIM:616278
Glycogen Storage Disease Xii
Nonspherocytic hemolytic anemia, Cholelithiasis, Normocytic anemia, Jaundice, Normochromic anemia... OMIM:611881
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Hepatomegaly, Lymphadenopathy, Splenomegaly ORPHA:86893
Diamond-Blackfan Anemia 7
Esophagitis, Recurrent otitis media, Neutropenia, Increased mean corpuscular volume, Macrocytic a... OMIM:612562
Adult-Onset Still Disease
Skin rash, Pericarditis, Leukocytosis, Myocarditis, Generalized lymphadenopathy, Hepatomegaly, He... ORPHA:829
Cholestasis-Lymphedema Syndrome
Cirrhosis, Neonatal cholestatic liver disease, Biliary tract abnormality, Hepatomegaly, Jaundice,... ORPHA:1414
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
T lymphocytopenia, Increased circulating IgM level, Bronchiectasis, Pneumonia, Reduced natural ki... OMIM:242860
Ghosal Hematodiaphyseal Dysplasia
Thrombocytopenia, Leukopenia, Bone marrow hypocellularity, Refractory anemia OMIM:231095
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome
Pancytopenia, Splenomegaly OMIM:614979
Primary Familial Polycythemia
Polycythemia, Abnormal hemoglobin ORPHA:90042
Amyloidosis, Familial Visceral
Hepatomegaly, Skin rash, Splenomegaly, Cholestasis OMIM:105200
Cinca Syndrome
Abnormality of neutrophils, Leukocytosis, Abnormal granulocyte morphology, Retrobulbar optic neur... ORPHA:1451
T-Cell Immunodeficiency With Thymic Aplasia
Aplasia of the thymus, Bronchiectasis, Eczematoid dermatitis, Lymphopenia, Pyoderma, Abnormal T c... OMIM:242700
Majeed Syndrome
Hypochromic microcytic anemia, Pustule, Leukocytosis, Congenital hypoplastic anemia, Synovitis, H... ORPHA:77297
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Methemoglobinemia, Polycythemia OMIM:250800
Choreoacanthocytosis
Acanthocytosis OMIM:200150
Spondylometaphyseal Dysplasia, Axial
Recurrent pneumonia, Splenomegaly OMIM:602271
Maternal Uniparental Disomy Of Chromosome 4
Abnormal erythrocyte morphology, Hypocholesterolemia, Acanthocytosis ORPHA:96180
Nephropathy With Pretibial Epidermolysis Bullosa And Deafness
Reduced beta/alpha synthesis ratio, Nail dystrophy OMIM:609057
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Peritonitis, Acute colitis, Microangiopathic hemolytic anemia, Reticulocytosis, Leukocytosis, Thr... ORPHA:90038
Pfapa Syndrome
Hepatomegaly, Encephalitis, Splenomegaly, Lymphadenopathy, Arthritis ORPHA:42642
Common Variable Immunodeficiency
Hemolytic anemia, Autoimmune thrombocytopenia, Bronchiectasis, Decreased circulating antibody lev... ORPHA:1572
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hemophagocytosis, Thrombocytopenia, Jaundice, Hepatomegaly, Splenomegaly, Hypertriglyceridemia, E... OMIM:267700
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Severe B lymphocytopenia, Autoimmune thrombocytopenia, Bronchiectasis, Decreased circulating cort... ORPHA:293978
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Megaloblastic anemia, Increased mean corpuscular volume OMIM:277410
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Erythroid hypoplasia, Monocytosis, Lymphopenia, Neutropenia, Hypoplasia of the thymus, Thrombocyt... OMIM:612541
Cold Agglutinin Disease
Hepatomegaly, Hemolytic anemia, Lymphadenopathy, Splenomegaly ORPHA:56425
Autoimmune Hemolytic Anemia
Abnormal leukocyte morphology, Hemolytic anemia, Splenomegaly ORPHA:98375
Prolidase Deficiency
Recurrent pneumonia, Increased circulating antibody level, Thrombocytopenia, Prolonged neonatal j... OMIM:170100
Burkitt Lymphoma
Decreased proportion of CD4-positive helper T cells, Abnormality of the lymph nodes, Abnormality ... ORPHA:543
Beta-Thalassemia Intermedia
Cirrhosis, Persistence of hemoglobin F, Leukocytosis, Extramedullary hematopoiesis, Hepatocellula... ORPHA:231222
Autoinflammation With Arthritis And Dyskeratosis
Autoimmune hemolytic anemia, Increased circulating IgA level, Thyroiditis, Uveitis, Punctate kera... OMIM:617388
Immunodeficiency 54
Hepatomegaly, Reduced natural killer cell count, Lymphadenopathy, Splenomegaly OMIM:609981
Chediak-Higashi Syndrome
Hemophagocytosis, Abnormal dense granules, Impaired neutrophil bactericidal activity, Recurrent b... OMIM:214500
Glucagonoma
Skin rash, Increased circulating cortisol level, Extrahepatic cholestasis, Abnormal abdomen morph... ORPHA:97280
Hermansky-Pudlak Syndrome 9
Thrombocytopenia, Leukopenia OMIM:614171
Wilson Disease
Acute hepatitis, Cirrhosis, Hepatic steatosis, Thrombocytopenia, Jaundice, Hepatomegaly, Hepatiti... ORPHA:905
Gaucher Disease Type 1
Cirrhosis, Increased circulating antibody level, Biliary tract obstruction, Pancytopenia, Thrombo... ORPHA:77259
Muckle-Wells Syndrome
Skin rash, Uveitis, Hepatomegaly, Conjunctivitis, Episcleritis, Anemia, Splenomegaly, Recurrent a... ORPHA:575
Congenital Bile Acid Synthesis Defect Type 1
Cirrhosis, Neonatal cholestatic liver disease, Biliary tract abnormality, Hepatomegaly, Jaundice,... ORPHA:79301
Acute Panmyelosis With Myelofibrosis
Lymphocytosis, Acute myelomonocytic leukemia, Pancytopenia, Acute myeloid leukemia, Splenomegaly,... ORPHA:86843
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Reticulocytosis, Hemolytic anemia, Decreased hemoglobin concentration ORPHA:713
Pericardial Effusion, Chronic
Polycythemia, Constrictive pericarditis OMIM:260900
Splenoportal Vascular Anomalies
Cirrhosis, Hepatic fibrosis, Anomalous splenoportal venous system, Ascites, Splenomegaly OMIM:271500
Osteopetrosis With Renal Tubular Acidosis
Thrombocytopenia, Splenomegaly, Anemia, Hepatomegaly ORPHA:2785
Hodgkin Lymphoma
Hepatomegaly, Lymphadenopathy, Splenomegaly ORPHA:98293
Bile Acid Synthesis Defect, Congenital, 3
Cirrhosis, Intrahepatic cholestasis, Steatorrhea, Hepatomegaly, Jaundice, Hepatitis, Splenomegaly... OMIM:613812
Congenital Disorder Of Glycosylation, Type Ik
Hepatomegaly, Splenomegaly OMIM:608540
Hermansky-Pudlak Syndrome 2
Recurrent pneumonia, Chronic oral candidiasis, Reduced natural killer cell activity, Recurrent ot... OMIM:608233
Spinocerebellar Ataxia, Autosomal Recessive 21
Hepatic fibrosis, Hepatomegaly, Splenomegaly OMIM:616719
Immunodeficiency, Common Variable, 14
Decreased proportion of class-switched memory B cells, Defective B cell differentiation, Decrease... OMIM:617765
Portal Hypertension, Noncirrhotic, 1
Hepatomegaly, Portal hypertension, Splenomegaly OMIM:617068
Infantile Sialic Acid Storage Disease
Vacuolated lymphocytes, Hepatomegaly, Ascites, Cardiomegaly, Splenomegaly OMIM:269920
S├ęzary Syndrome
Erythroderma, Abnormal lymphocyte morphology, Hepatomegaly, Splenomegaly, Abnormal immunoglobulin... ORPHA:3162
Systemic Mastocytosis With Associated Hematologic Neoplasm
Myeloid leukemia, Leukocytosis, Chronic lymphatic leukemia, Lymphadenopathy, Thrombocytopenia, Ab... ORPHA:98849
Coproporphyria, Hereditary
Hepatomegaly, Jaundice, Splenomegaly OMIM:121300
Progressive Familial Intrahepatic Cholestasis
Hepatomegaly, Jaundice, Splenomegaly, Cholestasis ORPHA:172
Combined Immunodeficiency Due To Crac Channel Dysfunction
Hemolytic anemia, Chronic otitis media, Pneumonia, Thrombocytopenia, Hepatomegaly, Splenomegaly, ... ORPHA:169090
Proteasome-Associated Autoinflammatory Syndrome 4
Autoimmune hemolytic anemia, Panniculitis, Hepatomegaly, Splenomegaly, Myositis, Lymphadenopathy OMIM:619183
Abetalipoproteinemia
Cirrhosis, Reticulocytosis, Hepatic steatosis, Steatorrhea, Hypocholesterolemia, Hepatic fibrosis... ORPHA:14
Gray Platelet Syndrome
Abnormal number of alpha granules, Impaired thrombin-induced platelet aggregation, Impaired colla... OMIM:139090
Candidiasis, Familial, 2
Decreased serum iron, Hypereosinophilia OMIM:212050
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Skin rash, Pancytopenia, Anemia, Leukopenia, Eczema, Lymphadenopathy, Recurrent otitis media, Pan... OMIM:615688
Glycogen Storage Disease Ixc
Cirrhosis, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Bile duct proliferation OMIM:613027
Fetal Gaucher Disease
Pancytopenia, Thrombocytopenia, Hepatomegaly, Splenomegaly, Abnormality of the spleen ORPHA:85212
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Hepatomegaly, Jaundice, Hemolytic anemia, Splenomegaly OMIM:608885
Gaucher Disease Type 2
Hepatomegaly, Splenomegaly ORPHA:77260
Aceruloplasminemia
Increased circulating ferritin concentration, Decreased serum iron, Anemia, Aceruloplasminemia OMIM:604290
8P11.2 Deletion Syndrome
Spherocytosis, Hemolytic anemia, Splenomegaly ORPHA:251066
16Q24.3 Microdeletion Syndrome
Thrombocytopenia, Chronic otitis media, Increased mean corpuscular volume ORPHA:261250
Follicular Lymphoma
Mediastinal lymphadenopathy, Abnormality of the peritoneum, Lymphadenopathy, Splenomegaly ORPHA:545
Hemochromatosis, Type 2A
Hepatomegaly, Arthritis, Cirrhosis, Splenomegaly OMIM:602390
Bile Acid Synthesis Defect, Congenital, 1
Cirrhosis, Giant cell hepatitis, Intrahepatic cholestasis, Steatorrhea, Hypocholesterolemia, Hepa... OMIM:607765
Dysplastic Cortical Hyperostosis
Hepatomegaly, Splenomegaly ORPHA:2204
Hemochromatosis Type 2
Increased circulating ferritin concentration, Abnormality of iron homeostasis, Elevated transferr... ORPHA:79230
Mixed Connective Tissue Disease
Skin rash, Hemolytic anemia, Pericarditis, Hepatomegaly, Keratoconjunctivitis sicca, Gastritis, L... ORPHA:809
Apolipoprotein C-Ii Deficiency
Hypercholesterolemia, Hepatomegaly, Hypertriglyceridemia, Pancreatitis, Splenomegaly OMIM:207750
Short Stature With Microcephaly And Distinctive Facies
Anisopoikilocytosis, Anemia OMIM:615789
Sickle Cell Anemia
Hemolytic anemia, Leukocytosis, Cholelithiasis, Hepatomegaly, Jaundice, Increased red cell sickli... OMIM:603903
Transaldolase Deficiency
Micronodular cirrhosis, Cirrhosis, Pancytopenia, Thrombocytopenia, Hepatic fibrosis, Hepatomegaly... OMIM:606003
Ataxia-Telangiectasia
Defective B cell differentiation, T lymphocytopenia, Bronchiectasis, Decreased proportion of CD4-... OMIM:208900
Hyperlipoproteinemia, Type I
Hypercholesterolemia, Lactescent serum, Jaundice, Pancreatitis, Splenomegaly, Hepatosplenomegaly,... OMIM:238600
Roifman Syndrome
Recurrent pneumonia, Recurrent otitis media, Lymphadenopathy, Hepatomegaly, Splenomegaly, Eczema,... OMIM:616651
Arthrogryposis Multiplex Congenita 5
Normocytic anemia, Poikilocytosis, Acanthocytosis OMIM:618947
Classic Hodgkin Lymphoma
Skin rash, Hepatomegaly, Splenomegaly, Bone marrow hypocellularity, Lymphadenopathy ORPHA:391
Systemic-Onset Juvenile Idiopathic Arthritis
Skin rash, Pericarditis, Hepatomegaly, Juvenile rheumatoid arthritis, Anterior uveitis, Splenomeg... ORPHA:85414
Selective Igm Deficiency
Cutaneous abscess, Bronchiectasis, Decreased specific antibody response to vaccination, Chronic s... ORPHA:331235
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Leukocytosis, Impaired oxidative burst, Abnormally low T cell receptor excision circle level, Imp... OMIM:608203
Lathosterolosis
Intrahepatic cholestasis, Anisopoikilocytosis, Thrombocytopenia, Hepatomegaly, Abnormal platelet ... ORPHA:46059
Glycosylphosphatidylinositol Biosynthesis Defect 1
Hepatomegaly, Portal hypertension, Splenomegaly OMIM:610293
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Recurrent pneumonia, Osteomyelitis, Lymphadenitis, Eczematoid dermatitis, Impaired oxidative burs... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Recurrent pneumonia, Osteomyelitis, Lymphadenitis, Eczematoid dermatitis, Impaired oxidative burs... OMIM:233710
Hemochromatosis, Neonatal
Increased circulating ferritin concentration, Increased serum iron, Abnormality of iron homeostasis OMIM:231100
Osteopetrosis, Autosomal Recessive 5
Extramedullary hematopoiesis, Pancytopenia, Thrombocytopenia, Hepatomegaly, Ascites, Anemia, Sple... OMIM:259720
Gaucher Disease, Type I
Pancytopenia, Thrombocytopenia, Hepatomegaly, Splenomegaly, Hypersplenism, Anemia OMIM:230800
Chronic Granulomatous Disease
Abnormality of neutrophils, Otitis media, Hepatomegaly, Sinusitis, Inflammatory abnormality of th... ORPHA:379
Hurler-Scheie Syndrome
Hepatomegaly, Abnormality of the tonsils, Rhinitis, Splenomegaly ORPHA:93476
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Interstitial pneumonitis, Eczematoid dermatitis, Thyroiditis, Neutropenia, Pneumonia, Myositis, E... ORPHA:37042
Neuraminidase Deficiency
Bone-marrow foam cells, Vacuolated lymphocytes, Hepatomegaly, Ascites, Cardiomegaly, Splenomegaly OMIM:256550
Immunodeficiency 22
Decreased proportion of CD4-positive helper T cells, Panniculitis OMIM:615758
Bile Acid Synthesis Defect, Congenital, 2
Intrahepatic cholestasis, Steatorrhea, Hepatomegaly, Jaundice, Splenomegaly OMIM:235555
Legionnaires Disease
Endocarditis, Pericarditis, Myocarditis, Lymphopenia, Jaundice, Hepatitis, Encephalitis, Pancreat... ORPHA:549
Nijmegen Breakage Syndrome
T lymphocytopenia, Recurrent pneumonia, Bronchiectasis, Autoimmune hemolytic anemia, Thrombocytop... OMIM:251260
Granulomatous Disease, Chronic, X-Linked
Recurrent pneumonia, Osteomyelitis, Lymphadenitis, Eczematoid dermatitis, Impaired oxidative burs... OMIM:306400
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Recurrent pneumonia, Osteomyelitis, Lymphadenitis, Eczematoid dermatitis, Impaired oxidative burs... OMIM:233690
Triosephosphate Isomerase Deficiency
Chronic hemolytic anemia, Hemolytic anemia, Cholelithiasis, Normocytic anemia, Jaundice, Normochr... OMIM:615512
Osteopetrosis, Autosomal Recessive 1
Pancytopenia, Thrombocytopenia, Hepatomegaly, Anemia, Splenomegaly, Osteomyelitis OMIM:259700
Lathosterolosis
Intrahepatic cholestasis, Increased mean platelet volume, Bilobate gallbladder, Anisopoikilocytos... OMIM:607330
Dominant Beta-Thalassemia
Hypochromic microcytic anemia, Cirrhosis, Decreased mean corpuscular hemoglobin concentration, Pe... ORPHA:231226
Niemann-Pick Disease, Type A
Bone-marrow foam cells, Microcytic anemia, Sea-blue histiocytosis, Hepatomegaly, Prolonged neonat... OMIM:257200
Hyper-Igd Syndrome
Skin rash, Serositis, Chronic oral candidiasis, Lymphadenitis, Leukocytosis, Increased circulatin... OMIM:260920
Mevalonic Aciduria
Skin rash, Fluctuating hepatomegaly, Morbilliform rash, Leukocytosis, Thrombocytopenia, Anemia, N... OMIM:610377
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Splenomegaly, Macrocytic anemia OMIM:619046
Essential Thrombocythemia
Abnormal platelet morphology, Acute leukemia, Splenomegaly ORPHA:3318
Mucopolysaccharidosis-Plus Syndrome
Recurrent pneumonia, Increased circulating IgM level, Enlarged kidney, Macrovesicular hepatic ste... OMIM:617303
Q Fever
Osteomyelitis, Endocarditis, Pericarditis, Increased circulating antibody level, Granuloma, Pneum... ORPHA:781
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Autoimmune thrombocytopenia, Bronchiectasis, Autoimmune hemolytic anemia, Thyroiditis, Lymphopeni... ORPHA:391487
Drug-Induced Autoimmune Hemolytic Anemia
Autoimmune hemolytic anemia, Splenomegaly ORPHA:90037
Brucellosis
Pericarditis, Pneumonia, Increased circulating IgG level, Anemia, Hypersplenism, Leukopenia, Myoc... ORPHA:1304
Hypermanganesemia With Dystonia 1