Gene Summary

Name:
mechanistic target of rapamycin kinase
Synonyms:
FKBP-rapamycin-associated protein FRAP,  mechanistic target of rapamycin (serine/threonine kinase),  RAPT1,  flat,  Frap1,  RAFT1,  2610315D21Rik

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
decreased blood urea nitrogen level Mtortm1a(EUCOMM)Wtsi HET Early adult 3.07×10-05
preweaning lethality, complete penetrance Mtortm1a(EUCOMM)Wtsi HOM   Early adult 0.00

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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 100% (2 of 2)
Aorta N/A heterozygote Not available
Blood vessel N/A heterozygote 100% (2 of 2)
Bone N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 100% (2 of 2)
Brainstem N/A heterozygote Not available
Brown adipose tissue N/A heterozygote 100% (2 of 2)
Cartilage tissue N/A heterozygote 100% (2 of 2)
Cerebellum N/A heterozygote Not available
Cerebral cortex N/A heterozygote Not available
Eye N/A heterozygote Ambiguous
Gall bladder N/A heterozygote 50% (1 of 2)
Heart N/A heterozygote 100% (2 of 2)
Hippocampus N/A heterozygote Not available
Hypothalamus N/A heterozygote Not available
Kidney N/A heterozygote 100% (2 of 2)
Large intestine N/A heterozygote 100% (2 of 2)
Liver N/A heterozygote 50% (1 of 2)
Lower urinary tract N/A heterozygote 100% (2 of 2)
Lung N/A heterozygote 100% (2 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 100% (2 of 2)
Olfactory lobe N/A heterozygote Not available
Ovary N/A heterozygote 50% (1 of 2)
Oviduct N/A heterozygote 50% (1 of 2)
Pancreas N/A heterozygote 100% (2 of 2)
Parathyroid gland N/A heterozygote 100% (2 of 2)
Peripheral nervous system N/A heterozygote 100% (2 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Pituitary gland N/A heterozygote 100% (2 of 2)
Prostate gland N/A heterozygote 0.0% (0 of 2)
Skeletal muscle tissue N/A heterozygote 100% (2 of 2)
Skin N/A heterozygote 100% (2 of 2)
Small intestine N/A heterozygote 100% (2 of 2)
Spinal cord N/A heterozygote 100% (2 of 2)
Spleen N/A heterozygote 100% (2 of 2)
Stomach N/A heterozygote 100% (2 of 2)
Striatum N/A heterozygote Not available
Testis N/A heterozygote 50% (1 of 2)
Thymus N/A heterozygote 100% (2 of 2)
Thyroid gland N/A heterozygote 100% (2 of 2)
Trachea N/A heterozygote 100% (2 of 2)
Uterus N/A heterozygote 50% (1 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 585)
aorta 0.17% (1 of 585)
blood vessel 0.0%
bone 0.0%
brain 0.68% (4 of 585)
brainstem 0.34% (2 of 585)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 585)
cerebellum 0.51% (3 of 585)
cerebral cortex 0.34% (2 of 585)
eye 0.0%
gall bladder 0.0%
heart 0.34% (2 of 585)
hippocampus 0.51% (3 of 585)
hypothalamus 0.34% (2 of 585)
kidney 3.59% (21 of 585)
large intestine 1.71% (10 of 585)
liver 0.0%
lower urinary tract 0.17% (1 of 585)
lung 0.34% (2 of 585)
lymph node 0.17% (1 of 585)
mammary gland 0.0%
oesophagus 0.0%
olfactory lobe 0.34% (2 of 585)
ovary 0.17% (1 of 585)
oviduct 0.0%
pancreas 0.85% (5 of 585)
parathyroid gland 0.18% (1 of 563)
peripheral nervous system 0.34% (2 of 585)
peyer's patch 0.57% (1 of 176)
pituitary gland 0.17% (1 of 585)
prostate gland 2.05% (12 of 585)
skeletal muscle tissue 0.0%
skin 0.17% (1 of 585)
small intestine 1.54% (9 of 585)
spinal cord 0.51% (3 of 585)
spleen 0.51% (3 of 585)
stomach 2.22% (13 of 585)
striatum 0.51% (3 of 585)
testis 1.03% (6 of 585)
thymus 0.17% (1 of 585)
thyroid gland 2.91% (17 of 585)
trachea 0.51% (3 of 585)
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 169 images

Human diseases caused by Mtor mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Mtor by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Smith-Kingsmore Syndrome
Decreased circulating IgA level, Thrombocytopenia, Cryptorchidism, Large for gestational age OMIM:616638
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Decreased circulating IgA level, Cryptorchidism, Large for gestational age ORPHA:457485
Focal Cortical Dysplasia, Type Ii
Hemimegalencephaly, Focal white matter lesions, Cortical dysplasia, Focal cortical dysplasia type II OMIM:607341

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
B lymphocytopenia, Failure to thrive in infancy, Decreased circulating IgG level, Abnormally low ... OMIM:618987
Immunodeficiency 24
Decreased specific pneumococcal antibody level, Defective T cell proliferation, Decreased circula... OMIM:615897
Lymphoid System Deterioration, Progressive
Abnormal T cell morphology, Decreased circulating IgG level, Lymphopenia, Decreased circulating t... OMIM:247630
Immunodeficiency 50
Decreased circulating antibody level, Neutropenia, Lymphopenia OMIM:300988
Persistent Polyclonal B-Cell Lymphocytosis
Hepatomegaly, Lymphocytosis, Decreased circulating total IgM, Splenomegaly OMIM:606445
B-Cell Expansion With Nfkb And T-Cell Anergy
Increased B cell count, Decreased specific antibody response to polysaccharide vaccine, Decreased... OMIM:616452
Immunodeficiency 18
Decreased proportion of CD3-positive T cells, Defective T cell proliferation, Lymphopenia OMIM:615615
Caspase 8 Deficiency
Decreased circulating IgA level, Lymphadenopathy, Decreased circulating IgG level, Failure to thr... OMIM:607271
Agammaglobulinemia 3, Autosomal Recessive
Failure to thrive, Agammaglobulinemia, Neutropenia OMIM:613501
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive
Increased circulating interleukin 6, Decreased proportion of class-switched memory B cells, Decre... OMIM:618944
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Neutropenia, Leukopenia, Failure to thrive, Anemia, Splenomegaly, Increased circula... OMIM:615285
Agammaglobulinemia 7, Autosomal Recessive
Agammaglobulinemia, Neutropenia OMIM:615214
Neutropenia, Chronic Familial
Increased circulating antibody level, Neutropenia OMIM:162700
Severe Combined Immunodeficiency, X-Linked
Hepatomegaly, Impaired lymphocyte transformation with phytohemagglutinin, Agammaglobulinemia, Dec... OMIM:300400
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
B lymphocytopenia, Neutropenia, Leukopenia, Partial absence of specific antibody response to Haem... OMIM:618986
Transcobalamin Deficiency
Neutropenia, Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulat... ORPHA:859
Immunodeficiency, Common Variable, 1
B lymphocytopenia, Hepatomegaly, Decreased proportion of class-switched memory B cells, Neutropen... OMIM:607594
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Neutropenia, Decreased circulating total IgM OMIM:610798
Immunodeficiency 14B, Autosomal Recessive
Thrombocytosis, Leukocytosis, B lymphocytopenia, Monocytosis, Decreased circulating IgA level, De... OMIM:619281
Immunodeficiency, Common Variable, 3
Decreased proportion of class-switched memory B cells, Reduced isohemagglutinin level, Decreased ... OMIM:613493
Adult Idiopathic Neutropenia
Neutropenia, Monocytosis, Increased circulating IgM level, Lymphopenia, Monocytopenia ORPHA:2688
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
Decreased circulating IgG level, T lymphocytopenia OMIM:242870
Immunodeficiency 70
B lymphocytopenia, Decreased circulating total IgA, Decreased circulating total IgG, Decreased ci... OMIM:618969
Combined Cellular And Humoral Immune Defects With Granulomas
B lymphocytopenia, Decreased circulating IgG level, T lymphocytopenia OMIM:233650
Immunodeficiency With Hyper-Igm, Type 3
Neutropenia, Decreased circulating IgA level, Impaired memory B cell generation, Decreased circul... OMIM:606843
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Hypoplasia of the thymus, Agammaglobulinemia, Lymphopenia OMIM:200900
Ras-Associated Autoimmune Leukoproliferative Disorder
Hepatomegaly, Neutropenia, Monocytosis, Leukemia, Decreased lymphocyte apoptosis, Splenomegaly, A... OMIM:614470
Immunodeficiency 14A, Autosomal Dominant
Increased proportion of transitional B cells, Decreased proportion of class-switched memory B cel... OMIM:615513
Lymphoma, Hodgkin, Classic
Impaired lymphocyte transformation with phytohemagglutinin, Polyclonal elevation of IgM OMIM:236000
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Absent tonsils, Decreased circulating IgA level, Decreased circulating IgG level, Abnormality of ... OMIM:611926
Immunodeficiency 85 And Autoimmunity
Failure to thrive in infancy, Decreased circulating IgA level, Decreased circulating IgG level, R... OMIM:619510
Immunodeficiency, Common Variable, 14
Decreased proportion of class-switched memory B cells, Decreased specific antibody response to va... OMIM:617765
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Hepatomegaly, Abnormal B cell count, Lymphadenitis, Decreased circulating IgA level, Decreased ci... ORPHA:331206
Cernunnos-Xlf Deficiency
B lymphocytopenia, Decreased circulating antibody level, Anemia, Lymphopenia, Thrombocytopenia, T... ORPHA:169079
Agammaglobulinemia 8, Autosomal Dominant
B lymphocytopenia, Agammaglobulinemia OMIM:616941
Immunodeficiency 64
Abnormal CD4:CD8 ratio, Mediastinal lymphadenopathy, Defective T cell proliferation, Lymphadenopa... OMIM:618534
Immunodeficiency 52
Coombs-positive hemolytic anemia, Increased proportion of gamma-delta T cells, Lymphadenopathy, D... OMIM:617514
Immunoerythromyeloid Hypoplasia
Decreased circulating IgG level, Erythroid hypoplasia OMIM:242880
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Cutaneous anergy, Splenomegaly, Hypersplenism, Decreased helper T cell proportion, Pancytopenia OMIM:183350
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Thrombocytosis, Neutropenia, Monocytosis, Congenital agranulocytosis, Anemia, Increased circulati... OMIM:202700
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Absent tonsils, B lymphocytopenia, Lack of T cell function, Failure to thrive, Abnormality of hum... ORPHA:277
Lymphoproliferative Syndrome 3
Lymphadenopathy, Decreased circulating antibody level, Reduced natural killer cell count, Hepatos... OMIM:618261
Immunodeficiency 21
Abnormal natural killer cell morphology, Neutropenia, Lymphopenia, Myeloid leukemia, Monocytopeni... OMIM:614172
Agammaglobulinemia 1, Autosomal Recessive
B lymphocytopenia, Agammaglobulinemia, Neutropenia, Failure to thrive, Decreased circulating anti... OMIM:601495
Lymphoproliferative Syndrome, X-Linked, 1
Hepatomegaly, Neutropenia, Lymphadenopathy, Reduced natural killer cell activity, Fulminant hepat... OMIM:308240
Immunodeficiency 60 And Autoimmunity
Decreased circulating IgA level, Decreased circulating IgG level, Splenomegaly, Decreased basophi... OMIM:618394
Agammaglobulinemia 4, Autosomal Recessive
Agammaglobulinemia, Neutropenia OMIM:613502
Reticular Dysgenesis
Lack of T cell function, Leukopenia, Impaired T cell function, Hypoplasia of the thymus, Congenit... OMIM:267500
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Leukemia, Monoclonal immunoglobulin M proteinemia, Impaired lymphocyte transformation with phytoh... OMIM:153600
Histiocytosis, Familial Lipochrome
Increased circulating antibody level, Histiocytosis OMIM:235900
Microcephalic Primordial Dwarfism, Toriello Type
Decreased circulating IgG level, Neutropenia, Decreased circulating total IgM ORPHA:2643
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Neutropenia, Lymphadenopathy, Increased circulating IgA level, Failure to thrive, Decreased lymph... ORPHA:169154
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
B lymphocytopenia, Failure to thrive, Failure to thrive secondary to recurrent infections, Panhyp... OMIM:601457
Immunodeficiency 46
Neutropenia, Failure to thrive, Decreased circulating antibody level, Anemia, Intermittent thromb... OMIM:616740
Whim Syndrome 1
Decreased circulating IgG level, Decreased circulating antibody level, Neutropenia OMIM:193670
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Hepatomegaly, Lymphadenopathy, Decreased circulating IgA level, Decreased circulating IgG level, ... OMIM:616100
Microcephalic Primordial Dwarfism, Toriello Type
Decreased circulating IgG level, Neutropenia, Decreased circulating total IgM OMIM:251190
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
B lymphocytopenia, Hepatomegaly, Decreased circulating IgA level, Failure to thrive, Reduced red ... OMIM:102700
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
B lymphocytopenia, Impaired lymphocyte transformation with phytohemagglutinin, Failure to thrive ... ORPHA:35078
Mu-Heavy Chain Disease
Hepatomegaly, Abnormal B cell count, Lymphadenopathy, Weight loss, Anemia, Splenomegaly, Increase... ORPHA:100024
Immunodeficiency 48
Failure to thrive, Hepatomegaly, Panhypogammaglobulinemia, Splenomegaly OMIM:269840
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations
Neutropenia, Lymphopenia OMIM:614868
Diamond-Blackfan Anemia 18
Steroid-responsive anemia, Neutropenia, Erythroid hypoplasia OMIM:618310
Combined Immunodeficiency, X-Linked
Decreased circulating IgG level, Decreased proportion of CD4-positive helper T cells, Decreased p... OMIM:312863
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Failure to thrive in infancy, Small for gestational age, Hypoplasia of the thymus, Reduced antige... OMIM:617241
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
B lymphocytopenia, Decreased specific antibody response to polysaccharide vaccine, Decreased spec... ORPHA:70593
Thrombocytopenia, Cyclic
Thrombocytopenia, Neutropenia, Cyclic neutropenia OMIM:188020
Immunodeficiency, Common Variable, 11
Failure to thrive, Increased circulating IgE level, Decreased circulating IgG level, Decreased pr... OMIM:615767
Immunodeficiency, Common Variable, 13
Pancytopenia, B lymphocytopenia, Acute lymphoblastic leukemia, Decreased circulating antibody level OMIM:616873
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Failure to thrive, Neutropenia OMIM:616022
Immunodeficiency 72 With Autoinflammation
Increased B cell count, Increased proportion of memory T cells, Lymphadenopathy, Increased circul... OMIM:618982
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Mediastinal lymphadenopathy, Decreased CD69 upregulation upon TCR activation, Lymphadenopathy, De... OMIM:300853
Immunoglobulin A Deficiency 2
Decreased circulating IgA level, Abnormal lymphocyte morphology OMIM:609529
Whim Syndrome 2
Chronic neutropenia OMIM:619407
Joubert Syndrome 13
Pachygyria, Molar tooth sign on MRI OMIM:614173
Immunodeficiency With Hyper-Igm, Type 1
Hepatomegaly, Neutropenia, Chronic hepatitis, Sclerosing cholangitis, Decreased circulating IgA l... OMIM:308230
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Fluctuating splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Lymphadenopathy, ... OMIM:619220
Cyclic Neutropenia
Neutropenia, Cyclic neutropenia OMIM:162800
Autoimmune Lymphoproliferative Syndrome
Hepatomegaly, Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, F... OMIM:601859
Immunodeficiency 86
Decreased circulating IgG level, Impaired oxidative burst, Increased circulating IgM level OMIM:619549
Immunodeficiency 57 With Autoinflammation
B lymphocytopenia, Failure to thrive, Decreased circulating antibody level, Reduced natural kille... OMIM:618108
Immunodeficiency By Defective Expression Of Mhc Class Ii
Abnormal CD4:CD8 ratio, Neutropenia, Lack of T cell function, Neutropenia in presence of anti-neu... ORPHA:572
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Increased CD4:CD8 ratio, Impaired lymphocyte transformation with phytohemagglutinin, Decreased sp... OMIM:617006
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Plasmacytosis, Increased circulating antibody level, Lymphopenia, Autoimmune hemolytic anemia OMIM:247800
X-Linked Severe Congenital Neutropenia
Monocytopenia, Neutropenia ORPHA:86788
Lymphangiectasia, Intestinal
Intestinal lymphangiectasia, Decreased circulating IgG level, Lymphopenia, Stillbirth OMIM:152800
Macrocephaly/Autism Syndrome
Hepatomegaly, Decreased circulating antibody level, Splenomegaly, Lymphopenia, Obesity OMIM:605309
Neutropenia, Severe Congenital, 2, Autosomal Dominant
B lymphocytopenia, Neutropenia, Monocytosis OMIM:613107
Transcobalamin Ii Deficiency
Macrocytic anemia, Neutropenia, Decreased circulating IgA level, Failure to thrive, Decreased cir... OMIM:275350
Griscelli Syndrome, Type 2
Reduced delayed hypersensitivity, Hepatosplenomegaly, Hemophagocytosis OMIM:607624
Immunodeficiency, Common Variable, 8, With Autoimmunity
Chronic neutropenia, B lymphocytopenia, Decreased proportion of class-switched memory B cells, De... OMIM:614700
Reticular Dysgenesis
Leukopenia, Failure to thrive, Weight loss, Decreased circulating antibody level, Anemia, Aplasia... ORPHA:33355
Immunodeficiency 37
Decreased circulating antibody level, Decreased proportion of central memory CD4-positive, alpha-... OMIM:616098
Neutropenia, Severe Congenital, 7, Autosomal Recessive
Neutropenia OMIM:617014
Ataxia-Pancytopenia Syndrome
Hypoplastic anemia, Abnormal platelet function, Acute myelomonocytic leukemia, Decreased circulat... ORPHA:2585
Hepatic Venoocclusive Disease With Immunodeficiency
Abnormality of the liver, Decreased circulating IgG level, Absence of lymph node germinal center OMIM:235550
Primary Intestinal Lymphangiectasia
Abnormal lymphatic vessel morphology, Decreased circulating IgA level, Decreased circulating IgG ... ORPHA:90362
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Neutropenia ORPHA:90023
X-Linked Lymphoproliferative Disease
Lymphadenopathy, Decreased circulating antibody level, Splenomegaly, Absent natural killer cells,... ORPHA:2442
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
T lymphocytopenia ORPHA:169095
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Lymphadenopathy, Decreased circulating antibody level, Anemia, Abnormal natural killer cell physi... OMIM:613101
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Hepatomegaly, Lymphadenopathy, Failure to thrive, Splenomegaly, Increased circulating antibody le... OMIM:618495
Trimethylaminuria
Anemia, Neutropenia, Splenomegaly OMIM:602079
Immunodeficiency 27A
Thrombocytosis, Leukocytosis, Enlarged mesenteric lymph node, Lymphadenopathy, Weight loss, Anemi... OMIM:209950
Autoimmune Lymphoproliferative Syndrome, Type Iia
Increased B cell count, Hepatomegaly, Elevated proportion of CD4-negative, CD8-negative, alpha-be... OMIM:603909
Congenital Disorder Of Glycosylation, Type Iir
Hepatomegaly, Decreased circulating antibody level, Micronodular cirrhosis, Hepatic steatosis, De... OMIM:301045
Immunodeficiency 25
Complete or near-complete absence of specific antibody response to tetanus vaccine, Increased cir... OMIM:610163
Acquired Idiopathic Sideroblastic Anemia
Leukocytosis, Thrombocytosis, Hepatomegaly, Neutropenia, Normocytic anemia, Megaloblastic erythro... ORPHA:75564
Neutropenia, Severe Congenital, X-Linked
Neutropenia OMIM:300299
Wiskott-Aldrich Syndrome 2
Thrombocytopenia, Reduced natural killer cell activity, Defective T cell proliferation, Decreased... OMIM:614493
Refractory Anemia
Macrocytic anemia, Normocytic anemia, Neutropenia, Normochromic anemia, Bone marrow hypocellulari... ORPHA:98826
Immunodeficiency 84
B lymphocytopenia, Perianal abscess, Splenomegaly OMIM:619437
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Impaired lymphocyte transformation with phytohemagglutinin, Failure to thrive, Cutaneous anergy, ... OMIM:600802
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Neutropenia ORPHA:70592
Lichtenstein Syndrome
Decreased circulating IgA level, Neutropenia OMIM:246550
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Failure to thrive, Decreased circulating antibody level OMIM:617744
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, B lymphocytopenia, Neutropenia, Lymphadenopathy, Abscess, Splenomegaly, I... OMIM:150550
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency
Decreased circulating IgG level, Neutropenia OMIM:600351
Immunodeficiency, Common Variable, 4
Decreased circulating IgG level, Complete or near-complete absence of specific antibody response ... OMIM:613494
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Decreased circulating antibody level, Lymphopenia ORPHA:1116
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased B cell count, Hepatomegaly, Decreased proportion of class-switched memory B cells, Medi... OMIM:615559
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Neutropenia, Increased mean corpuscular volume, Anemia, Bone marrow hypocellularity, Acute myeloi... OMIM:619041
Neutropenia, Lethal Congenital, With Eosinophilia
Eosinophilia, Neutropenia, Neonatal death OMIM:257100
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Decreased circulating total IgA, Failure to thrive secondary to recurrent infections, Decreased c... ORPHA:169160
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Leukopenia, Monocytosis, Refractory anemia, Bone marrow hypocellularity, Acute myeloid leukemia OMIM:616871
Bone Marrow Failure Syndrome 4
Leukopenia, Decreased circulating antibody level, Anemia, Bone marrow hypocellularity, Thrombocyt... OMIM:618116
Immunodeficiency 92
Leukocytosis, B lymphocytopenia, Decreased proportion of class-switched memory B cells, Thrombocy... OMIM:619652
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hepatomegaly, Neutropenia, Lymphadenopathy, Anemia, Splenomegaly, Thrombocytopenia, Hemophagocyto... OMIM:603552
Immunodeficiency 76
B lymphocytopenia, Lymphadenopathy, Splenomegaly, Lymphopenia, T lymphocytopenia OMIM:619164
3-Methylglutaconic Aciduria, Type Vii
Neutropenia OMIM:616271
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Thrombocytosis, Macrocytic anemia, Megaloblastic anemia, Decreased circulating antibody level, Ly... OMIM:617780
Bare Lymphocyte Syndrome, Type Ii
Cholangitis, Agammaglobulinemia, Neutropenia, Failure to thrive, Cutaneous anergy, Panhypogammagl... OMIM:209920
Combined Immunodeficiency Due To Dock8 Deficiency
B lymphocytopenia, T lymphocytopenia, Increased circulating IgE level ORPHA:217390
Septopreoptic Holoprosencephaly
Abnormal midbrain morphology, Perisylvian polymicrogyria, Megalencephaly, Hypoplasia of the pons,... ORPHA:280195
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4
Decreased circulating antibody level, Agammaglobulinemia OMIM:616911
Immunodeficiency 36
Chronic lymphatic leukemia, Decreased circulating antibody level, Lymphopenia, Splenomegaly OMIM:616005
Immunodeficiency, Common Variable, 7
Decreased specific pneumococcal antibody level, Decreased circulating total IgG, Reduced isohemag... OMIM:614699
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Absent tonsils, Hepatomegaly, Decreased proportion of naive T cells, Lymph node hypoplasia, Decre... ORPHA:276
Multiple Epiphyseal Dysplasia, Al-Gazali Type
Short stature, Molar tooth sign on MRI, Cerebral atrophy, Hypoplasia of the corpus callosum, Agen... ORPHA:166024
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive
Hepatomegaly, Lymphadenopathy, Failure to thrive secondary to recurrent infections, Splenomegaly,... OMIM:608971
Immunodeficiency 81
Decreased proportion of class-switched memory B cells, Recurrent cutaneous abscess formation, Abs... OMIM:619374
Autoimmune Lymphoproliferative Syndrome
Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, Neutropenia in ... ORPHA:3261
Schnitzler Syndrome
Leukocytosis, Hepatomegaly, Lymphadenopathy, Anemia, Splenomegaly, Increased circulating IgM level ORPHA:37748
Neutrophilia, Hereditary
Neutrophilia, Hepatosplenomegaly OMIM:162830
Lymphoproliferative Syndrome, X-Linked, 2
Hepatomegaly, Hepatitis, Decreased circulating antibody level, Splenomegaly, Pancytopenia, Aplast... OMIM:300635
Retinal Telangiectasia And Hypogammaglobulinemia
Reduced delayed hypersensitivity, Decreased circulating IgG level OMIM:267900
Monocyte Chemotactic Disorder
Cutaneous anergy OMIM:252250
Agammaglobulinemia 5, Autosomal Dominant
Agammaglobulinemia OMIM:613506
Lymphoproliferative Syndrome 1
Hepatomegaly, Leukopenia, Lymphadenopathy, Decreased circulating IgG level, Decreased circulating... OMIM:613011
Fanconi Anemia, Complementation Group G
Leukemia, Thrombocytopenia, Neutropenia, Anemia OMIM:614082
X-Linked Agammaglobulinemia
Agammaglobulinemia, Neutropenia, Recurrent cutaneous abscess formation, Failure to thrive, Abnorm... ORPHA:47
Rosaï-Dorfman Disease
Lymphadenopathy, Dysgammaglobulinemia, Anemia ORPHA:158014
Immunodeficiency 11
Decreased circulating antibody level OMIM:615206
Bone Marrow Failure Syndrome 5
Testicular atrophy, Decreased circulating antibody level, Anemia, Pure red cell aplasia OMIM:618165
Wiskott-Aldrich Syndrome, Autosomal Dominant
Absent microvilli on the surface of peripheral blood lymphocytes, Iron deficiency anemia, Decreas... OMIM:600903
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
B lymphocytopenia, Impaired lymphocyte transformation with phytohemagglutinin, Hypoplasia of the ... OMIM:619313
Immunodeficiency 47
Hepatomegaly, Normocytic anemia, Hepatic fibrosis, Leukopenia, Decreased circulating total IgA, D... OMIM:300972
Glutathione Synthetase Deficiency
Hemolytic anemia, Neutropenia OMIM:266130
Bone Marrow Failure Syndrome 6
Neutropenia, Increased mean corpuscular volume, Anemia, Bone marrow hypocellularity, Persistence ... OMIM:618849
Immunodeficiency 67
Increased circulating IgE level, Transient neutropenia, Liver abscess OMIM:607676
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Neutropenia, Coombs-positive hemolytic anemia, Lymphadenopathy, Failure to thrive, Hepatitis, Ane... OMIM:304790
Alpha-Heavy Chain Disease
Hepatomegaly, Lymphadenopathy, Anemia, Splenomegaly, Dysgammaglobulinemia, Premature ovarian insu... ORPHA:100025
Immunoglobulin M, Level Of
Decreased circulating total IgM OMIM:308250
Immunodeficiency 55
Lymphadenopathy, Neutropenia OMIM:617827
Hemophagocytic Lymphohistiocytosis, Familial, 3
Reduced natural killer cell activity, Anemia, Hepatosplenomegaly, Granulocytopenia, Hemophagocytosis OMIM:608898
Immunodeficiency 15A
Decreased proportion of memory B cells, Decreased proportion of CD4-positive helper T cells, Decr... OMIM:618204
Ataxia-Telangiectasia
Failure to thrive, Decreased circulating antibody level, Polycystic ovaries, Abnormal testis morp... ORPHA:100
Lymphoproliferative Syndrome 2
Hepatomegaly, Lymphadenopathy, Decreased circulating antibody level, Decreased lymphocyte prolife... OMIM:615122
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Hemolytic anemia, B lymphocytopenia, Failure to thrive in infancy, Lymphadenopathy, Decreased cir... OMIM:606367
Leukoencephalopathy, Arthritis, Colitis, And Hypogammaglobulinema
Failure to thrive, Decreased circulating IgG level, Neutropenia OMIM:608809
Autosomal Agammaglobulinemia
Failure to thrive, Agammaglobulinemia, Hepatitis, Neutropenia ORPHA:33110
Alpha-Thalassemia-Myelodysplastic Syndrome
Neutropenia, Acute leukemia, Splenomegaly, Microcytic anemia, Thrombocytopenia, HbH hemoglobin ORPHA:231401
Combined Immunodeficiency With Faciooculoskeletal Anomalies
B lymphocytopenia, Decreased circulating total IgA, Decreased specific antibody response to vacci... ORPHA:221139
Familial Hemophagocytic Lymphohistiocytosis
Hepatomegaly, Abnormality of serum cytokine level, Increased circulating interleukin 6, Neutropen... ORPHA:540
Aggressive Systemic Mastocytosis
Leukocytosis, Neutropenia, Thrombocytopenia, Leukemia, Lymphadenopathy, Weight loss, Anemia, Abno... ORPHA:98850
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Acute lymphoblastic leukemia, Neutropenia, Hepatocellular carcinoma, Anemia, Splenomegaly, Acute ... ORPHA:158057
Pgm3-Cdg
Abnormal CD4:CD8 ratio, Neutropenia, Abnormal proportion of CD8-positive T cells, Leukopenia, Neu... ORPHA:443811
Hemochromatosis, Type 3
Anemia, Neutropenia, Lymphopenia, Cirrhosis OMIM:604250
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Abnormal T cell morphology, Decreased circulating IgA level, Small for gestational age, Macronodu... OMIM:215250
Selective Igm Deficiency
Decreased specific antibody response to vaccination, Neutropenia in presence of anti-neutropil an... ORPHA:331235
Schimke Immunoosseous Dysplasia
Abnormal T cell morphology, Neutropenia, Abnormal immunoglobulin level, Anemia, Elevated circulat... OMIM:242900
T-Cell Immunodeficiency With Thymic Aplasia
Abnormal T cell morphology, Failure to thrive, Aplasia of the thymus, Reduced delayed hypersensit... OMIM:242700
Purine Nucleoside Phosphorylase Deficiency
Neutropenia in presence of anti-neutropil antibodies, Lymph node hypoplasia, Impaired T cell func... OMIM:613179
Aregenerative Anemia
Neutropenia, Abnormal proportion of CD8-positive T cells, Lymphadenopathy, Abnormality of interle... ORPHA:101096
Mental Retardation, X-Linked, Syndromic, Chudley-Schwartz Type
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM OMIM:300861
Wiskott-Aldrich Syndrome
Absent microvilli on the surface of peripheral blood lymphocytes, Impaired lymphocyte transformat... OMIM:301000
Ataxia-Pancytopenia Syndrome
Hypoplastic anemia, Neutropenia, Acute myelomonocytic leukemia, Anemia, Pancytopenia, Thrombocyto... OMIM:159550
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Leukocytosis, Failure to thrive in infancy, Increased proportion of CD4-positive T cells, Lymphad... OMIM:617099
Immunodeficiency, Common Variable, 12, With Autoimmunity
Thrombocytopenia, Decreased circulating antibody level, Autoimmune hemolytic anemia OMIM:616576
Fanconi Anemia, Complementation Group V
Anemia, Thrombocytopenia, Neutropenia, Bone marrow hypocellularity OMIM:617243
Neutropenia, Severe Congenital, 3, Autosomal Recessive
Acute lymphoblastic leukemia, Neutropenia OMIM:610738
Immunodeficiency, Common Variable, 2
Hepatomegaly, Impaired T cell function, Lymphadenopathy, Decreased circulating IgA level, Decreas... OMIM:240500
Hydrolethalus Syndrome 2
Agenesis of corpus callosum, Molar tooth sign on MRI, Hydrocephalus, Anencephaly OMIM:614120
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Decreased circulating IgA level, Failure to thrive, Reduced natural killer cell count, Increased ... OMIM:242860
Immunodeficiency 23
Neutropenia, Failure to thrive, Abscess, Increased circulating IgG level, Increased circulating I... OMIM:615816
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults
Acute myeloid leukemia, Neutropenia OMIM:607847
Polymicrogyria Due To Tubb2B Mutation
Perisylvian polymicrogyria, Schizencephaly, Hypoplasia of the pons, Dysgenesis of the basal gangl... ORPHA:300573
Folate Malabsorption, Hereditary
Neutropenia, Leukopenia, Failure to thrive, Thrombocytopenia, Folate-responsive megaloblastic anemia OMIM:229050
Pontocerebellar Hypoplasia, Type 14
Chronic neutropenia, Thrombocytopenia OMIM:619301
Pontocerebellar Hypoplasia, Type 15
Chronic neutropenia, Thrombocytopenia, Anemia OMIM:619302
Bloom Syndrome
Small for gestational age, Leukemia, Decreased circulating IgA level, Decreased circulating IgG l... OMIM:210900
Immunodeficiency 33
Increased circulating IgA level, Decreased circulating total IgM OMIM:300636
Felty Syndrome
Hepatomegaly, Neutropenia, Lymphadenopathy, Weight loss, Abnormal lymphocyte morphology, Anemia, ... ORPHA:47612
Immunodeficiency With Hyper-Igm, Type 5
Lymphadenopathy, Decreased circulating IgA level, Decreased circulating IgG level, Impaired Ig cl... OMIM:608106
Omenn Syndrome
B lymphocytopenia, Hepatomegaly, Lymphadenopathy, Failure to thrive, Hypoplasia of the thymus, An... OMIM:603554
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Hepatomegaly, Neutropenia, Failure to thrive, Anemia, Pancreatitis, Splenomegaly, Thrombocytopenia ORPHA:79312
Diamond-Blackfan Anemia 11
Anemia, Neutropenia, Bone marrow hypocellularity, Anemia of inadequate production OMIM:614900
Barth Syndrome
Failure to thrive, Granulocytopenia, Neutropenia OMIM:302060
Combined Immunodeficiency Due To Partial Rag1 Deficiency
B lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, Splenomegaly, T lymphocy... ORPHA:231154
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Decreased proportion of CD3-positive T cells, Decreased circulating IgG level, Decreased circulat... ORPHA:275
Macrophage Activation Syndrome
Hepatomegaly, Increased circulating interleukin 6, Neutropenia, Lymphadenopathy, Hepatitis, Anemi... ORPHA:158061
Specific Granule Deficiency 1
Absent neutrophil lactoferrin, Absent neutrophil specific granules, Increased neutrophil mitochon... OMIM:245480
Spastic Ataxia-Corneal Dystrophy Syndrome
Decreased circulating antibody level ORPHA:2572
Immunodeficiency 13
B lymphocytopenia, Decreased proportion of CD4-positive helper T cells, Lymphopenia, Decreased CD... OMIM:615518
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Portal hypertension, Hepatomegaly, Failure to thrive in infancy, Absence of lymph node germinal c... ORPHA:79124
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Hepatomegaly, Neutropenia, Leukopenia, Monocytosis, Failure to thrive, Hypoplasia of the thymus, ... OMIM:612541
Boutonneuse Fever
Leukopenia, Lymphadenopathy, Increased circulating IgG level, Increased circulating IgM level, Ce... ORPHA:83313
Proteasome-Associated Autoinflammatory Syndrome 2
Lymphadenopathy, Thrombocytopenia, Increased circulating antibody level, Failure to thrive OMIM:618048
Dyskeratosis Congenita, Autosomal Recessive 5
Decreased circulating antibody level, Bone marrow hypocellularity, Leukopenia OMIM:615190
Leishmaniasis
Hepatomegaly, Leukopenia, Lymphadenopathy, Weight loss, Anemia, Splenomegaly, Abnormal macrophage... ORPHA:507
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Macrocytic anemia, Neutropenia, Abnormal reticulocyte morphology, Abnormal platelet morphology, A... OMIM:300835
Agammaglobulinemia 2, Autosomal Recessive
Agammaglobulinemia OMIM:613500
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency
Neutropenia, Failure to thrive, Anemia, Bone marrow hypocellularity, Large for gestational age, T... OMIM:614520
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Abnormality of T cell physiology OMIM:308220
Anemia, Sideroblastic, 5
Reduced hematocrit, Neutropenia, Hypochromic microcytic anemia, Anemia, Thrombocytopenia OMIM:619523
Immunodeficiency 75
Lymphadenopathy, Hepatosplenomegaly, Decreased proportion of class-switched memory B cells, Folli... OMIM:619126
Griscelli Syndrome
Hepatomegaly, Leukopenia, Lymphadenopathy, Hepatitis, Bone marrow hypocellularity, Decreased circ... ORPHA:381
Ravine Syndrome
Abnormal brainstem morphology, Atrophy/Degeneration affecting the brainstem, Abnormality of the b... ORPHA:99852
Immunodeficiency, Common Variable, 6
Hepatomegaly, Decreased specific pneumococcal antibody level, Complete or near-complete absence o... OMIM:613496
3-Methylglutaconic Aciduria, Type Viii
Neutropenia OMIM:617248
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
Abnormally low T cell receptor excision circle level, T lymphocytopenia OMIM:618806
Spinocerebellar Ataxia, Autosomal Recessive 23
Neutropenia OMIM:616949
Congenital Disorder Of Glycosylation, Type Iif
Decreased platelet glycoprotein Ib, Thrombocytopenia, Macrothrombocytopenia, Neutropenia OMIM:603585
Maternal Uniparental Disomy Of Chromosome 1
Pancytopenia, Hepatomegaly, Panhypogammaglobulinemia, Failure to thrive ORPHA:251009
Icf Syndrome
Abnormality of neutrophils, Decreased circulating antibody level, Anemia, Lymphopenia ORPHA:2268
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
T lymphocytopenia, Decreased helper T cell proportion OMIM:601705
Immunodeficiency With Hyper-Igm, Type 2
Lymphadenopathy, Decreased circulating IgG level, Decreased circulating IgA level, Impaired Ig cl... OMIM:605258
Specific Granule Deficiency 2
Neutropenia, Absent neutrophil specific granules, Failure to thrive, Anemia, Thrombocytopenia OMIM:617475
Hermansky-Pudlak Syndrome 2
Hepatomegaly, Neutropenia, Enlarged platelet dense granules, Reduced natural killer cell activity... OMIM:608233
Immunodeficiency 17
Failure to thrive, Decreased proportion of CD8-positive T cells, Autoimmune hemolytic anemia OMIM:615607
Joubert Syndrome 22
Hypoplasia of the corpus callosum, Intrauterine growth retardation, Molar tooth sign on MRI, Temp... OMIM:615665
Schimke Immuno-Osseous Dysplasia
Decreased proportion of naive CD8 T cells, Neutropenia, Small for gestational age, Impaired T cel... ORPHA:1830
Immunodeficiency 68
B lymphocytopenia, Lymphadenitis, Abscess, T lymphocytopenia, Abnormal natural killer cell count OMIM:612260
Candidiasis, Familial, 1
Cutaneous anergy OMIM:114580
Immunodeficiency 61
Obesity, Agammaglobulinemia OMIM:300310
Wolfram Syndrome, Mitochondrial Form
Thrombocytopenia, Megaloblastic anemia, Neutropenia, Sideroblastic anemia OMIM:598500
Immunodeficiency With Hyper-Igm, Type 4
Autoimmune thrombocytopenia, Impaired Ig class switch recombination, Absence of lymph node germin... OMIM:608184
Bloom Syndrome
Acute lymphoblastic leukemia, Abnormal proportion of CD8-positive T cells, Small for gestational ... ORPHA:125
Developmental And Epileptic Encephalopathy 66
Anemia, Cryptorchidism, Neutropenia OMIM:618067
Griscelli Syndrome Type 2
Hepatomegaly, Neutropenia, Lymphadenopathy, Splenomegaly, Pancytopenia, Hemophagocytosis, Jaundice ORPHA:79477
Diamond-Blackfan Anemia 8
Macrocytic anemia, Neutropenia, Increased mean corpuscular volume OMIM:612563
Autosomal Dominant Severe Congenital Neutropenia
Acute lymphoblastic leukemia, Neutropenia, Monocytosis, Leukemia, Acute myeloid leukemia, Lymphop... ORPHA:486
Meckel Syndrome, Type 4
Meningocele, Intrauterine growth retardation, Anencephaly, Molar tooth sign on MRI, Hydrocephalus... OMIM:611134
Hereditary Folate Malabsorption
Failure to thrive, Megaloblastic anemia, Decreased circulating antibody level, Pancytopenia, Thro... ORPHA:90045
Idiopathic Aplastic Anemia
Neutropenia, Anemia, Bone marrow hypocellularity, Reticulocytopenia, Pancytopenia, Thrombocytopenia ORPHA:88
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Absent tonsils, Lymph node hypoplasia, Failure to thrive, Aplasia of the thymus, Panhypogammaglob... OMIM:602450
Kimura Disease
Abnormal salivary gland morphology, Lymphadenopathy, Increased circulating IgE level, Eosinophili... ORPHA:482
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Hepatomegaly, Decreased circulating IgG level, Decreased circulating antibody level, Decreased ly... ORPHA:508533
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Neutropenia in presence of anti-neutropil antibodies, Decreased circulating antibody level, Hepat... OMIM:615952
Osteopetrosis, Autosomal Recessive 7
Hepatomegaly, Decreased circulating IgA level, Decreased circulating IgG level, Anemia, Splenomeg... OMIM:612301
Mogs-Cdg
Hepatomegaly, Decreased circulating IgA level, Decreased circulating IgG level, Decreased circula... ORPHA:79330
Cyclic Neutropenia
Peritonitis, Lymphadenopathy, Perianal abscess, Lymphopenia, Cyclic neutropenia, Recurrent tonsil... ORPHA:2686
Pyruvate Dehydrogenase E3-Binding Protein Deficiency
Periventricular cysts, Abnormal corpus callosum morphology, Abnormal brainstem morphology, Abnorm... ORPHA:255182
Pelger-Huet Anomaly
Neutropenia, Failure to thrive, Hyposegmentation of neutrophil nuclei, Giant platelets, Thrombocy... OMIM:169400
Thrombocytopenia 5
Anemia, Thrombocytopenia, Neutropenia OMIM:616216
Neurodegeneration, Infantile-Onset, Biotin-Responsive
Decreased circulating IgG level OMIM:618973
Immunodeficiency 15B
Decreased circulating antibody level, Agammaglobulinemia, Failure to thrive OMIM:615592
Roifman Syndrome
Lymphadenopathy, Hepatosplenomegaly, Eosinophilia, Decreased circulating antibody level ORPHA:353298
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
B lymphocytopenia, Hypochromic microcytic anemia, Schistocytosis, Decreased circulating antibody ... OMIM:616084
Mucopolysaccharidosis-Plus Syndrome
Hepatomegaly, Neutropenia, Leukopenia, Anemia, Bone marrow hypocellularity, Patent ductus arterio... OMIM:617303
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Hepatomegaly, Neutropenia, Anemia, Pancreatitis, Thrombocytopenia ORPHA:289916
Common Variable Immunodeficiency
Failure to thrive in infancy, Lymphadenopathy, Decreased circulating antibody level, Splenomegaly... ORPHA:1572
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy
Hepatomegaly, Microcytic anemia, Neutropenia OMIM:251900
Secondary Intestinal Lymphangiectasia
Decreased circulating IgA level, Decreased circulating antibody level, Cirrhosis, Decreased circu... ORPHA:90363
Felty Syndrome
Neutropenia, Splenomegaly OMIM:134750
Chediak-Higashi Syndrome
Hepatomegaly, Neutropenia, Leukopenia, Lymphadenopathy, Abnormal dense granules, Giant neutrophil... OMIM:214500
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
T lymphocytopenia DECIPHER:16
Pontocerebellar Hypoplasia Type 10
Abnormal brainstem morphology, Growth delay, Simplified gyral pattern, Abnormal cerebral cortex m... ORPHA:411493
Whim Syndrome
Neutropenia, Lymphadenitis, Decreased circulating antibody level, Parotitis, Lymphopenia, Abnorma... ORPHA:51636
Immunodeficiency 82 With Systemic Inflammation
B lymphocytopenia, Decreased proportion of naive T cells, Decreased circulating total IgA, Decrea... OMIM:619381
Deafness-Lymphedema-Leukemia Syndrome
Leukocytosis, Hepatomegaly, Acute leukemia, Lymphadenopathy, Weight loss, Bone marrow hypocellula... ORPHA:3226
Joubert Syndrome 31
Hypoplasia of the corpus callosum, Molar tooth sign on MRI OMIM:617761
Immunodeficiency, Common Variable, 5
Chronic decreased circulating total IgG OMIM:613495
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Absent hippocampal commissure, Abnormality of the anterior commissure, Hypoplasia of the pons, Hy... OMIM:617542
Immune Deficiency Disease
Cholangitis, Fulminant hepatitis, Decreased circulating total IgM OMIM:242850
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
B lymphocytopenia, Neutropenia, Leukopenia, Bone marrow hypocellularity, Anemia, Lymphopenia, Ret... ORPHA:508542
Slc35A2-Cdg
Abnormal midbrain morphology, Intrauterine growth retardation, Short stature, Atrophy/Degeneratio... ORPHA:356961
Immunodeficiency 89 And Autoimmunity
Hypochromic microcytic anemia, Increased circulating IgA level, Increased circulating IgG level, ... OMIM:619632
Obesity Due To Congenital Leptin Deficiency
Pituitary hypothyroidism, Hypoplasia of the ovary, Decreased proportion of CD4-positive helper T ... ORPHA:66628
Orofaciodigital Syndrome Xv
Molar tooth sign on MRI, Agenesis of corpus callosum OMIM:617127
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Decreased circulating antibody level OMIM:614069
Aspergillosis
Increased circulating IgE level, Eosinophilia, Hepatitis, Neutropenia ORPHA:1163
Immunodeficiency 91 And Hyperinflammation
Hepatomegaly, Monocytosis, Lymphadenopathy, Failure to thrive, Neutrophilia, Hepatosplenomegaly, ... OMIM:619644
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Hepatomegaly, Impaired T cell function, Failure to thrive, Splenomegaly, Decreased testicular size OMIM:201100
Poikiloderma With Neutropenia
Neutropenia, Splenomegaly OMIM:604173
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Neutropenia, Anemia, Congenital thrombocytopenia, Thrombocytopenia, Hydrocele testis OMIM:616738
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Abnormal size of pituitary gland, Failure to thrive, Abnormal lymphocyte morphology, Decreased ci... ORPHA:293978
Diamond-Blackfan Anemia 4
Macrocytic anemia, Neutropenia, Reticulocytopenia, Erythroid hypoplasia OMIM:612527
Slc35A1-Cdg
Thrombocytopenia, Abnormal platelet granules, Giant platelets, Neutropenia ORPHA:238459
Popov-Chang syndrome
Failure to thrive, Decreased circulating antibody level, Lymphopenia OMIM:618428
Ataxia-Telangiectasia
Leukemia, Decreased circulating IgA level, Hypoplasia of the thymus, Defective B cell differentia... OMIM:208900
Neutropenia, Severe Congenital, 8, Autosomal Dominant
Exocrine pancreatic insufficiency, Neutropenia OMIM:618752
Obesity Due To Leptin Receptor Gene Deficiency
Pituitary hypothyroidism, Hypoplasia of the ovary, Decreased proportion of CD4-positive helper T ... ORPHA:179494
Autoinflammation With Arthritis And Dyskeratosis
Hepatomegaly, Increased circulating IgA level, Failure to thrive, Increased circulating IgG level... OMIM:617388
Sting-Associated Vasculopathy, Infantile-Onset
Thrombocytosis, Leukopenia, Increased circulating IgA level, Failure to thrive, Paratracheal lymp... OMIM:615934
Holoprosencephaly, Recurrent Infections, And Monocytosis
Failure to thrive, Cryptorchidism, Monocytosis OMIM:610680
Immunodeficiency, Common Variable, 10
Decreased circulating IgA level, Decreased response to growth hormone stimulation test, Decreased... OMIM:615577
Imerslund-Gräsbeck Syndrome
Macrocytic anemia, Anisopoikilocytosis, Neutropenia, Oval macrocytosis, Abnormal hemoglobin conce... ORPHA:35858
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Anemia, Neutropenia OMIM:617056
Sézary Syndrome
Hepatomegaly, Lymphadenopathy, Abnormal immunoglobulin level, Abnormal lymphocyte morphology, Spl... ORPHA:3162
Aicardi-Goutieres Syndrome 7
Thrombocytopenia, Increased circulating antibody level, Hepatomegaly, Splenomegaly OMIM:615846
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Eosinophilia, Decreased circulating antibody level, Hepatic cysts, Lymphopenia OMIM:617425
Netherton Syndrome
Failure to thrive, Increased circulating IgE level, Decreased circulating IgG level, Hypereosinop... OMIM:256500
O'Sullivan-Mcleod Syndrome
Eosinophilia, Increased circulating antibody level ORPHA:99965
Cohen Syndrome
Neutropenia, Small for gestational age, Leukopenia, Decreased response to growth hormone stimulat... OMIM:216550
Myotonic Dystrophy 2
Decreased circulating IgG level, Decreased circulating total IgM, Elevated circulating follicle s... OMIM:602668
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Leukocytosis, Macrocytic anemia, Abnormally low T cell receptor excision circle level, Reduction ... OMIM:608203
Joubert Syndrome 36
Molar tooth sign on MRI OMIM:618763
Hemophagocytic Syndrome Associated With An Infection
Hepatomegaly, Neutropenia, Abnormal cytokine signaling, Anemia, Splenomegaly, Abnormal T cell sub... ORPHA:158048
Lambert Syndrome
Failure to thrive in infancy, Intrahepatic biliary atresia, Decreased circulating antibody level,... ORPHA:1296
Good Syndrome
Mediastinal lymphadenopathy, Decreased circulating antibody level, Anemia, Thymoma, Aplasia/Hypop... ORPHA:169105
Fanconi Anemia, Complementation Group I
Decreased response to growth hormone stimulation test, Decreased body weight, Neutropenia, Bone m... OMIM:609053
Subacute Inflammatory Demyelinating Polyneuropathy
Leukocytosis, Increased circulating IgG level ORPHA:206594
Immunoneurologic Disorder, X-Linked
Neonatal death, Decreased circulating IgG2 level, Small for gestational age OMIM:300076
Immunodeficiency 59 And Hypoglycemia
Hepatomegaly, Decreased proportion of class-switched memory B cells, Decreased circulating antibo... OMIM:233600
Acute Promyelocytic Leukemia
Leukocytosis, Neutropenia, Leukopenia, Lymphadenopathy, Weight loss, Anemia, Pancytopenia, Thromb... ORPHA:520
Igg4-Related Aortitis
Weight loss, Increased circulating IgG4 level, Complement deficiency, Increased circulating IgE l... ORPHA:449400
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Anemia, Thrombocytopenia, Cryptorchidism, Neutropenia OMIM:614857
Coach Syndrome 2
Molar tooth sign on MRI, Hydrocephalus, Agenesis of corpus callosum OMIM:619111
Joubert Syndrome 7
Hypoplasia of the brainstem, Molar tooth sign on MRI, Brainstem dysplasia, Abnormal corpus callos... OMIM:611560
Joubert Syndrome 18
Molar tooth sign on MRI, Intrauterine growth retardation OMIM:614815
Congenital Disorder Of Glycosylation, Type Iic
Reduction of neutrophil motility, Neutrophilia OMIM:266265
Neonatal Lupus Erythematosus
Hemolytic anemia, Hepatomegaly, Neutropenia, Anemia, Splenomegaly, Abnormality of the liver, Panc... ORPHA:398124
Achondroplasia
Megalencephaly, Neonatal short-limb short stature, Rhizomelia, Hydrocephalus, Brain stem compression OMIM:100800
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Agammaglobulinemia, Anemia, Lymphopenia, Abnormality of the pancreas ORPHA:935
Meckel Syndrome, Type 10
Molar tooth sign on MRI, Anencephaly OMIM:614175
Retinal Venous Beading
Neutropenia OMIM:180080
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Failure to thrive in infancy, Cachexia, Neutropenia, Neutropenia in presence of anti-neutropil an... ORPHA:37042
Combined Immunodeficiency Due To Zap70 Deficiency
Lymphadenopathy, Lymphadenitis, Failure to thrive, Decreased lymphocyte proliferation in response... ORPHA:911
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
B lymphocytopenia, Hepatomegaly, Pancreatic hypoplasia, Failure to thrive, Cholelithiasis, Biliar... ORPHA:83617
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Cholangitis, Decreased specific pneumococcal antibody level, Cholecystitis, Decreased circulating... ORPHA:183675
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Decreased circulating IgA level, Decreased circulating total IgM OMIM:614878
Pneumocystosis
Weight loss, Abnormal neutrophil count, Increased circulating antibody level ORPHA:723
Thymic Aplasia
Decreased proportion of naive T cells, Coombs-positive hemolytic anemia, Lymphadenopathy, Failure... ORPHA:83471
Shwachman-Diamond Syndrome
Neutropenia, Pancreatic hypoplasia, Leukemia, Pancytopenia, Bone marrow hypocellularity, Acute my... ORPHA:811
3-Methylglutaconic Aciduria Type 7
Hepatic steatosis, Infection associated neutropenia, Neutropenia, Bone marrow hypocellularity ORPHA:445038
Propionic Acidemia
Hepatomegaly, Neutropenia, Failure to thrive, Anemia, Pancreatitis, Pancytopenia, Thrombocytopenia OMIM:606054
Joubert Syndrome 10
Molar tooth sign on MRI, Growth delay OMIM:300804
Saul-Wilson Syndrome
Neutropenia OMIM:618150
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Enteroviral hepatitis, Decreased response to growth hormone stimulation test, Panhypogammaglobuli... OMIM:307200
Congenital Enterovirus Infection
Leukocytosis, Neutropenia, Leukopenia, Hepatitis, Anemia, Abnormal macrophage morphology, Cholest... ORPHA:292
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Hepatomegaly, Decreased proportion of class-switched memory B cells, Decreased proportion of marg... OMIM:619375
Cartilage-Hair Hypoplasia
Macrocytic anemia, Impaired lymphocyte transformation with phytohemagglutinin, Neutropenia, Conge... OMIM:250250
Proteasome-Associated Autoinflammatory Syndrome 3
Hepatomegaly, Lymphadenopathy, Failure to thrive, Anemia, Splenomegaly, Increased circulating ant... OMIM:617591
Gómez-López-Hernández Syndrome
Abnormal brainstem morphology, Hydrocephalus, Short stature ORPHA:1532
Thymoma
Imbalanced hemoglobin synthesis, Abnormal lymphocyte proliferation, Leukemia, Weight loss, Decrea... ORPHA:99867
Vici Syndrome
Failure to thrive, Cutaneous anergy, Decreased circulating IgG level, Decreased proportion of CD4... OMIM:242840
Methylcobalamin Deficiency Type Cble
Macrocytic anemia, Neutropenia, Increased mean corpuscular volume, Failure to thrive, Abnormality... ORPHA:2169
Cd8 Deficiency, Familial
Absence of CD8-positive T cells OMIM:608957
Immune Deficiency, Familial Variable
Decreased circulating IgA level, Decreased circulating IgG level OMIM:146830
Wolcott-Rallison Syndrome
Hepatomegaly, Neutropenia, Iron deficiency anemia, Abnormality of the liver, Lymphocytosis, Exocr... ORPHA:1667
Congenital Disorder Of Glycosylation, Type Iil
Hepatomegaly, Impaired T cell function, Failure to thrive, Decreased specific anti-polysaccharide... OMIM:614576
Shwachman-Diamond Syndrome 1
Hepatomegaly, Neutropenia, Small for gestational age, Failure to thrive, Anemia, Persistence of h... OMIM:260400
Al-Gazali-Bakalinova Syndrome
Molar tooth sign on MRI, Agenesis of corpus callosum OMIM:607131
Methylmalonic Aciduria, Cblb Type
Hepatomegaly, Neutropenia, Failure to thrive, Anemia, Pancytopenia, Thrombocytopenia OMIM:251110
Letterer-Siwe Disease
Neutropenia, Anemia, Hepatosplenomegaly, Thrombocytopenia, Jaundice OMIM:246400
Angiostrongyliasis
Increased circulating IgA level, Increased circulating IgG level, Increased circulating specific ... ORPHA:74
Necrotizing Enterocolitis
Leukocytosis, Neutropenia, Small for gestational age, Peritonitis, Thrombocytopenia ORPHA:391673
Sepsis In Premature Infants
Leukocytosis, Hepatomegaly, Increased circulating interleukin 6, Neutropenia, Small for gestation... ORPHA:90051
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Cryptorchidism, Decreased circulating antibody level, Agammaglobulinemia OMIM:616910
Fanconi Anemia, Complementation Group C
Neutropenia, Small for gestational age, Leukemia, Bone marrow hypocellularity, Anemia, Reticulocy... OMIM:227645
Methylmalonic Aciduria, Cbla Type
Hepatomegaly, Neutropenia, Failure to thrive, Anemia, Pancytopenia, Thrombocytopenia OMIM:251100
Gamma-A-Globulin, Defect In Assembly Of
Decreased circulating IgA level OMIM:137050
Onychotrichodysplasia And Neutropenia
Chronic neutropenia, Lymphocytosis, Neutropenia OMIM:258360
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Neutropenia, Failure to thrive, Megaloblastic anemia, Pancytopenia, Thrombocytopenia OMIM:277380
Chédiak-Higashi Syndrome
Abnormal natural killer cell morphology, Neutropenia, Thrombocytopenia, Abnormal platelet functio... ORPHA:167
Orotic Aciduria
Hypochromia, Impaired T cell function, Failure to thrive, Anisocytosis, Poikilocytosis, Pyrimidin... OMIM:258900
Joubert Syndrome 32
Molar tooth sign on MRI, Polymicrogyria OMIM:617757
Adult Krabbe Disease
Abnormal midbrain morphology, Abnormality of the medulla oblongata, Abnormal corpus callosum morp... ORPHA:206448
Systemic Mastocytosis With Associated Hematologic Neoplasm
Leukocytosis, Chronic lymphatic leukemia, Hepatomegaly, Normocytic anemia, Lymphadenopathy, Normo... ORPHA:98849
Hyper-Igd Syndrome
Leukocytosis, Lymphadenopathy, Lymphadenitis, Increased circulating IgA level, Splenomegaly, Neut... OMIM:260920
Orofaciodigital Syndrome Vi
Hypothalamic hamartoma, Molar tooth sign on MRI, Short stature OMIM:277170
Autoimmune Polyendocrinopathy Type 4
Macrocytic anemia, Leukopenia, Aplasia/Hypoplasia of the spleen, Hepatitis, Decreased circulating... ORPHA:227990
Smith-Kingsmore Syndrome
Decreased circulating IgA level, Thrombocytopenia, Cryptorchidism, Large for gestational age OMIM:616638
Nijmegen Breakage Syndrome
B lymphocytopenia, Dysgammaglobulinemia, Premature ovarian insufficiency, Thrombocytopenia, T lym... OMIM:251260
Okur-Chung Neurodevelopmental Syndrome
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating antibody ... OMIM:617062
Ebola Hemorrhagic Fever
Leukopenia, Hepatitis, Increased circulating antibody level, Acute pancreatitis, Lymphopenia, Thr... ORPHA:319218
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Brain abscess, Abnormality of the lymphatic system, Weight loss, Anemia, Abnormality of the lymph... ORPHA:54251
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome
Decreased circulating antibody level ORPHA:85317
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Decreased circulating IgG level, Neutropenia OMIM:271510
Agammaglobulinemia 6, Autosomal Recessive
Agammaglobulinemia OMIM:612692
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Leukocytosis, Thrombocytosis, Defective T cell proliferation, Failure to thrive, Increased circul... OMIM:618213
Adult-Onset Still Disease
Leukocytosis, Hepatomegaly, Hepatitis, Bone marrow hypocellularity, Splenomegaly, Neutrophilia, G... ORPHA:829
Mirage Syndrome
Leukopenia, Anemia, Patent ductus arteriosus, Decreased body weight, Lymphopenia, Thrombocytopeni... OMIM:617053
Mgat2-Cdg
Impaired lymphocyte transformation with phytohemagglutinin, Hypoplastic nipples, Failure to thriv... ORPHA:79329
Cowden Syndrome 1
Goiter, Decreased circulating antibody level, Ovarian carcinoma, Lymphopenia, Ovarian cyst, Hydro... OMIM:158350
Hermansky-Pudlak Syndrome 10
Hepatomegaly, Neutropenia, Splenomegaly OMIM:617050
Microcephaly With Chemotactic Defect And Transient Hypogammaglobulinemia
Transient hypogammaglobulinemia of infancy OMIM:251240
Epidermodysplasia Verruciformis, Susceptibility To, 5
T lymphocytopenia, Lymphopenia OMIM:618309
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Iron deficiency anemia, Thrombocytosis, Decreased circulating antibody level, Hepatomegaly OMIM:226300
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Leukocytosis, Thrombocytosis, Hepatomegaly, Leukopenia, Lymphadenopathy, Decreased circulating an... OMIM:615688
Methylmalonic Acidemia With Homocystinuria Type Cblf
Failure to thrive, Megaloblastic anemia, Neutropenia, Reduced number of intrahepatic bile ducts ORPHA:79284
Hereditary Orotic Aciduria
Impaired T cell function, Anemia, Patent ductus arteriosus, Splenomegaly ORPHA:30
Mannosidosis, Alpha B, Lysosomal
Vacuolated lymphocytes, Decreased circulating antibody level, Hepatomegaly, Splenomegaly OMIM:248500
Autoimmune Polyendocrinopathy Type 3
Autoimmune hypoparathyroidism, Macrocytic anemia, Leukopenia, Aplasia/Hypoplasia of the spleen, H... ORPHA:227982
Joubert Syndrome 4
Thickened superior cerebellar peduncle, Molar tooth sign on MRI, Elongated superior cerebellar pe... OMIM:609583
Shwachman-Diamond Syndrome 2
Hepatomegaly, Normocytic anemia, Neutropenia, Failure to thrive, Hyperechogenic pancreas, Thrombo... OMIM:617941
Multiple Myeloma
Lymphadenopathy, Increased circulating IgA level, Weight loss, Decreased circulating antibody lev... ORPHA:29073
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)
Failure to thrive, Neutropenia, Small for gestational age OMIM:615471
Fusariosis
Brain abscess, Abnormality of the spleen, Neutropenia, Lung abscess, Peritonitis, Abnormality of ... ORPHA:228119
Immunoglobulin A Deficiency 1
Decreased circulating IgA level OMIM:137100
Tempi Syndrome
Polycythemia, Increased hematocrit, Increased circulating IgG level ORPHA:284227
Simple Cryoglobulinemia
Chronic lymphatic leukemia, Monoclonal elevation of circulating IgA, Monoclonal immunoglobulin M ... ORPHA:91139
Spondyloenchondrodysplasia With Immune Dysregulation
Neutropenia, Lymphadenopathy, Autoimmune thrombocytopenia, Lymphopenia, T lymphocytopenia OMIM:607944
Cystic Echinococcosis
Hepatomegaly, Splenic cyst, Peritoneal abscess, Biliary tract obstruction, Abscess, Hepatic cysts... ORPHA:400
Fanconi Anemia, Complementation Group E
Neutropenia, Small for gestational age, Leukemia, Anemia, Reticulocytopenia, Pancytopenia, Thromb... OMIM:600901
Fanconi Anemia, Complementation Group D2
Neutropenia, Small for gestational age, Annular pancreas, Leukemia, Bone marrow hypocellularity, ... OMIM:227646
Fanconi Anemia, Complementation Group A
Neutropenia, Small for gestational age, Leukemia, Anemia, Reticulocytopenia, Pancytopenia, Thromb... OMIM:227650
Riddle Syndrome
Decreased circulating IgA level, Weight loss, Decreased circulating IgG level, Generalized lympha... ORPHA:420741
Alg12-Cdg
B lymphocytopenia, Partial absence of specific antibody response to Haemophilus influenzae type b... ORPHA:79324
Neuronal Intestinal Pseudoobstruction
Decreased circulating antibody level, Patent ductus arteriosus ORPHA:99811
Evans Syndrome
Jaundice, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Neutropenia in presence of an... ORPHA:1959
Wiskott-Aldrich Syndrome
Neutropenia, Abnormal platelet function, Acute leukemia, Hypoplasia of the thymus, Chronic leukem... ORPHA:906
Diamond-Blackfan Anemia 7
Macrocytic anemia, Neutropenia, Increased mean corpuscular volume, Patent ductus arteriosus OMIM:612562
Joubert Syndrome 27
Molar tooth sign on MRI OMIM:617120
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Hepatomegaly, Failure to thrive in infancy, Decreased circulating IgA level, Hepatitis, Splenomeg... OMIM:613385
Duplication Of The Pituitary Gland
Abnormal midbrain morphology, Short stature, Abnormal hypothalamus morphology, Abnormality of the... ORPHA:314621
Igg4-Related Submandibular Gland Disease
Abnormal salivary gland morphology, Cholangitis, Lymphadenopathy, Retroperitoneal fibrosis, Siala... ORPHA:449432
Syndromic Diarrhea
Thrombocytosis, Hepatomegaly, Increased mean platelet volume, Hepatic fibrosis, Small for gestati... ORPHA:84064
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin
Decreased circulating IgA level OMIM:235500
Cartilage-Hair Hypoplasia
Hepatomegaly, Neutropenia, Failure to thrive, Decreased circulating antibody level, Anemia, Abnor... ORPHA:175
Joubert Syndrome 37
Hypoplasia of the corpus callosum, Molar tooth sign on MRI, Short stature OMIM:619185
Joubert Syndrome 33
Molar tooth sign on MRI OMIM:617767
Gaucher Disease Type 1
Hepatomegaly, Leukopenia, Biliary tract obstruction, Anemia, Splenomegaly, Cirrhosis, Hyperspleni... ORPHA:77259
Joubert Syndrome 25
Molar tooth sign on MRI OMIM:616781
Riddle Syndrome
Decreased circulating IgG level OMIM:611943
X-Linked Immunoneurologic Disorder
Decreased circulating IgG2 level ORPHA:2571
Congenital Disorder Of Glycosylation With Defective Fucosylation 1
Failure to thrive, Neutropenia OMIM:618005
Kikuchi-Fujimoto Disease
Hepatomegaly, Neutropenia, Leukopenia, Lymphadenopathy, Weight loss, Anemia, Abnormality of the l... ORPHA:50918
Hyperimmunoglobulin G1(A1) Syndrome
Increased circulating IgA level, Increased circulating IgG level OMIM:144120
Congenital Muscular Dystrophy With Cerebellar Involvement
Diffuse white matter abnormalities, Agenesis of corpus callosum, Hypoplasia of the pons, Abnormal... ORPHA:370959
Pearson Syndrome
Hepatomegaly, Hypoparathyroidism, Neutropenia, Small for gestational age, Macronodular cirrhosis,... ORPHA:699