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 2.09×10-06
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 0.67% (4 of 598)
aorta 0.17% (1 of 598)
blood vessel 0.0%
bone 0.0%
brain 0.84% (5 of 598)
brainstem 0.33% (2 of 598)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 598)
cerebellum 0.5% (3 of 598)
cerebral cortex 0.33% (2 of 598)
eye 0.0%
gall bladder 0.0%
heart 0.33% (2 of 598)
hippocampus 0.5% (3 of 598)
hypothalamus 0.33% (2 of 598)
kidney 4.52% (27 of 598)
large intestine 5.35% (32 of 598)
liver 0.0%
lower urinary tract 0.17% (1 of 598)
lung 0.33% (2 of 598)
lymph node 0.17% (1 of 598)
mammary gland 0.0%
oesophagus 0.0%
olfactory lobe 0.33% (2 of 598)
ovary 0.17% (1 of 598)
oviduct 0.0%
pancreas 0.84% (5 of 598)
parathyroid gland 0.17% (1 of 576)
peripheral nervous system 0.33% (2 of 598)
peyer's patch 0.57% (1 of 176)
pituitary gland 0.17% (1 of 598)
prostate gland 2.17% (13 of 598)
skeletal muscle tissue 0.0%
skin 0.17% (1 of 598)
small intestine 5.35% (32 of 598)
spinal cord 0.5% (3 of 598)
spleen 0.5% (3 of 598)
stomach 3.68% (22 of 598)
striatum 0.5% (3 of 598)
testis 1% (6 of 598)
thymus 0.17% (1 of 598)
thyroid gland 3.01% (18 of 598)
trachea 0.5% (3 of 598)
uterus 0.33% (2 of 598)
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
Large for gestational age, Decreased circulating IgA level, Thrombocytopenia, Cryptorchidism OMIM:616638
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Large for gestational age, Decreased circulating IgA level, Cryptorchidism ORPHA:457485
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
Decreased circulating IgG level, Abnormally low T cell receptor excision circle level, Cervical l... OMIM:618987
Immunodeficiency 24
Decreased circulating IgG level, Lymphopenia, Defective T cell proliferation, Decreased specific ... OMIM:615897
Lymphoid System Deterioration, Progressive
Decreased circulating total IgM, Abnormal T cell morphology, Decreased circulating IgG level, Lym... OMIM:247630
Immunodeficiency 105
Decreased circulating IgA level, Lymphopenia, Decreased circulating IgG level, Decreased circulat... OMIM:619924
Immunodeficiency 50
Neutropenia, Decreased circulating antibody level, Lymphopenia OMIM:300988
Agammaglobulinemia 10, Autosomal Dominant
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... OMIM:619707
Persistent Polyclonal B-Cell Lymphocytosis
Decreased circulating total IgM, Hepatomegaly, Lymphocytosis, Splenomegaly OMIM:606445
B-Cell Expansion With Nfkb And T-Cell Anergy
Decreased circulating IgA level, Splenomegaly, Decreased specific antibody response to polysaccha... OMIM:616452
Immunodeficiency 18
Defective T cell proliferation, Lymphopenia, Decreased proportion of CD3-positive T cells OMIM:615615
Caspase 8 Deficiency
Failure to thrive, Decreased circulating IgA level, Decreased circulating IgG level, Reduced CD95... OMIM:607271
Agammaglobulinemia 2, Autosomal Recessive
Decreased circulating IgA level, Decreased circulating total IgM, Absent circulating B cells, Aga... OMIM:613500
Agammaglobulinemia 3, Autosomal Recessive
Agammaglobulinemia, Failure to thrive, Neutropenia OMIM:613501
Agammaglobulinemia 8B, Autosomal Recessive
Failure to thrive, Decreased circulating IgA level, Decreased circulating IgG level, Decreased pr... OMIM:619824
Agammaglobulinemia 7, Autosomal Recessive
Agammaglobulinemia, Neutropenia OMIM:615214
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Increased circulating antibody level, Failure to thrive, Hepatomegaly, Splenomegaly, Extramedulla... OMIM:615285
Neutropenia, Chronic Familial
Increased circulating antibody level, Neutropenia OMIM:162700
Severe Combined Immunodeficiency, X-Linked
Failure to thrive, Decreased circulating IgA level, Decreased circulating IgG level, Hepatomegaly... OMIM:300400
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive
Increased circulating interleukin 6 concentration, Decreased circulating IgG level, Decreased cir... OMIM:618944
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Decreased lymphocyte proliferation in response to anti-CD3, Partial absence of specific antibody ... OMIM:618986
Immunodeficiency 44
Decreased circulating IgA level, Lymphopenia, Decreased circulating total IgM, Abnormal circulati... OMIM:616636
Agammaglobulinemia 6, Autosomal Recessive
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... OMIM:612692
Transcobalamin Deficiency
Decreased circulating IgA level, Decreased circulating IgG level, Lymphopenia, Decreased circulat... ORPHA:859
Immunodeficiency, Common Variable, 1
Decreased circulating IgA level, Neutropenia in presence of anti-neutropil antibodies, Decreased ... OMIM:607594
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Decreased circulating total IgM, Neutropenia OMIM:610798
Agammaglobulinemia 4, Autosomal Recessive
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... OMIM:613502
Immunodeficiency 97 With Autoinflammation
Hemophagocytosis, Decreased proportion of CD4+CD25+ regulatory T cells, Monocytopenia, Lymphadeno... OMIM:619802
Immunodeficiency, Common Variable, 3
Decreased circulating IgA level, Reduced isohemagglutinin level, Decreased circulating total IgM,... OMIM:613493
Adult Idiopathic Neutropenia
Lymphopenia, Monocytosis, Increased circulating IgM level, Neutropenia, Monocytopenia ORPHA:2688
Immunodeficiency 14B, Autosomal Recessive
Decreased circulating IgA level, Decreased circulating IgG level, Neutrophilia, Leukocytosis, Dec... OMIM:619281
Combined Cellular And Humoral Immune Defects With Granulomas
Decreased circulating IgG level, B lymphocytopenia, T lymphocytopenia OMIM:233650
Immunodeficiency 70
Decreased circulating total IgA, Decreased circulating total IgM, B lymphocytopenia, Decreased ci... OMIM:618969
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
Decreased circulating IgG level, T lymphocytopenia OMIM:242870
Immunodeficiency With Hyper-Igm, Type 3
Decreased circulating IgA level, Decreased circulating IgG level, Impaired memory B cell generati... OMIM:606843
Immunodeficiency 102
Increased circulating interleukin 6 concentration, Decreased circulating IgA level, Partial absen... OMIM:301082
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Agammaglobulinemia, Hypoplasia of the thymus, Lymphopenia OMIM:200900
Immunodeficiency 14A, Autosomal Dominant
Splenomegaly, Decreased specific pneumococcal antibody level, T lymphocytopenia, Decreased propor... OMIM:615513
Ras-Associated Autoimmune Leukoproliferative Disorder
Increased circulating antibody level, Hepatomegaly, Lymphocytosis, Splenomegaly, Monocytosis, Aut... OMIM:614470
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... OMIM:611926
Agammaglobulinemia 8A, Autosomal Dominant
Agammaglobulinemia, B lymphocytopenia OMIM:616941
Lymphoma, Hodgkin, Classic
Impaired lymphocyte transformation with phytohemagglutinin, Polyclonal elevation of IgM OMIM:236000
Cernunnos-Xlf Deficiency
Lymphopenia, B lymphocytopenia, T lymphocytopenia, Decreased circulating antibody level, Anemia, ... ORPHA:169079
Immunodeficiency 85 And Autoimmunity
Decreased circulating IgA level, Decreased circulating IgG level, Lymphopenia, Decreased circulat... OMIM:619510
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Abnormal T cell count, Decreased circulating IgA level, Decreased lymphocyte proliferation in res... ORPHA:331206
Immunodeficiency, Common Variable, 14
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... OMIM:617765
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Decreased circulating IgG level, Decreased circulating total IgM, B lymphocytopenia, Decreased pr... OMIM:619705
Immunodeficiency 52
Failure to thrive, Increased proportion of gamma-delta T cells, Coombs-positive hemolytic anemia,... OMIM:617514
Immunodeficiency 64
Decreased lymphocyte proliferation in response to mitogen, Failure to thrive, Increased circulati... OMIM:618534
Immunodeficiency 48
Failure to thrive, Hepatomegaly, Splenomegaly, Panhypogammaglobulinemia, Absence of CD8-positive ... OMIM:269840
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Lymphopenia, Absent specific antibody response, Follicular hyperplasia, Autoimmune thrombocytopen... OMIM:619846
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Splenomegaly, Pancytopenia, Decreased helper T cell proportion, Cutaneous anergy, Hypersplenism OMIM:183350
Immunoerythromyeloid Hypoplasia
Decreased circulating IgG level, Erythroid hypoplasia OMIM:242880
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Increased circulating antibody level, Acute monocytic leukemia, Eosinophilia, Monocytosis, Congen... OMIM:202700
Lymphoproliferative Syndrome 3
Hepatosplenomegaly, Decreased circulating antibody level, Lymphadenopathy, Partial absence of spe... OMIM:618261
Immunodeficiency 21
Lymphopenia, Abnormal natural killer cell morphology, Aplastic anemia, Myeloid leukemia, Neutrope... OMIM:614172
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Lack of T cell function, Failure to thrive, Lymphopenia, B lymphocytopenia, T lymphocytopenia, Ab... ORPHA:277
Reticular Dysgenesis
Lack of T cell function, Lymphopenia, Hypoplasia of the thymus, Leukopenia, Congenital agranulocy... OMIM:267500
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Increased circulating antibody level, Decreased lymphocyte proliferation in response to mitogen, ... ORPHA:169154
Immunodeficiency 60 And Autoimmunity
Decreased circulating IgA level, Decreased circulating IgG level, Splenomegaly, Decreased circula... OMIM:618394
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Leukemia, Impaired lymphocyte transformation with phytohemagglutinin, Monoclonal immunoglobulin M... OMIM:153600
Histiocytosis, Familial Lipochrome
Histiocytosis, Increased circulating antibody level OMIM:235900
Immunodeficiency 46
Failure to thrive, Decreased circulating antibody level, Intermittent thrombocytopenia, Neutropen... OMIM:616740
Microcephalic Primordial Dwarfism, Toriello Type
Decreased circulating total IgM, Decreased circulating IgG level, Neutropenia ORPHA:2643
Neutropenia, Severe Congenital, X-Linked
Decreased CD4:CD8 ratio, Monocytopenia, Neutropenia OMIM:300299
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Failure to thrive, B lymphocytopenia, T lymphocytopenia, Panhypogammaglobulinemia, Failure to thr... OMIM:601457
Whim Syndrome 1
Decreased circulating antibody level, Decreased circulating IgG level, Neutropenia OMIM:193670
Autoinflammatory Disease, Systemic, X-Linked
Decreased circulating IgG level, Decreased circulating total IgM, Hepatosplenomegaly, B lymphocyt... OMIM:301081
Immunodeficiency 95
Decreased circulating IgG3 level, Lymphopenia, Increased circulating IgG3 level OMIM:619773
Lymphoproliferative Syndrome, X-Linked, 1
Neutropenia, Decreased circulating IgG level, Lymphocytosis, Hemophagocytosis, Splenomegaly, Hepa... OMIM:308240
Microcephalic Primordial Dwarfism, Toriello Type
Decreased circulating total IgM, Decreased circulating IgG level, Neutropenia OMIM:251190
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Lack of T cell function, Decreased lymphocyte proliferation in response to mitogen, Decreased cir... ORPHA:35078
Diamond-Blackfan Anemia 18
Steroid-responsive anemia, Neutropenia, Erythroid hypoplasia OMIM:618310
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations
Lymphopenia, Neutropenia OMIM:614868
Combined Immunodeficiency, X-Linked
Decreased proportion of CD8-positive T cells, Decreased proportion of CD4-positive helper T cells... OMIM:312863
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Small for gestational age, Hypoplasia of the thymus, Decreased proportion of CD8-positive T cells... OMIM:617241
Mu-Heavy Chain Disease
Increased circulating antibody level, Hepatomegaly, Splenomegaly, Abnormal B cell count, Weight l... ORPHA:100024
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Decreased specific anti-polysaccharide antibody level, Decreased specific antibody response to pr... ORPHA:70593
Immunodeficiency 103, Susceptibility To Fungal Infections
Abnormal proportion of CD8-positive T cells, Abnormal B cell count, Hypereosinophilia, Abnormal n... OMIM:212050
Thrombocytopenia, Cyclic
Cyclic neutropenia, Thrombocytopenia, Neutropenia OMIM:188020
Immunodeficiency 72 With Autoinflammation
Hepatosplenomegaly, Increased circulating IgG level, Increased B cell count, Increased circulatin... OMIM:618982
Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant
Decreased circulating IgA level, Decreased circulating IgG level, Lymphopenia, Decreased circulat... OMIM:619752
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased specific anti-polysaccharide antibody level, Splenomegaly, Autoimmune thrombocytopenia,... OMIM:300853
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Decreased circulating IgA level, Decreased circulating IgG level, Lymphopenia, Hepatomegaly, Sple... OMIM:616100
Immunodeficiency, Common Variable, 13
Acute lymphoblastic leukemia, Decreased circulating antibody level, B lymphocytopenia, Pancytopenia OMIM:616873
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Failure to thrive, Neutropenia OMIM:616022
Immunodeficiency, Common Variable, 11
Decreased proportion of class-switched memory B cells, Failure to thrive, Increased circulating I... OMIM:615767
Immunoglobulin A Deficiency 2
Decreased circulating IgA level, Abnormal lymphocyte morphology OMIM:609529
Sneddon Syndrome
Decreased circulating total IgM, Lymphopenia OMIM:182410
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Neutropenia in presence of anti-neutropil antibodies, Fluctuating splenomegaly, Autoimmune thromb... OMIM:619220
Immunodeficiency 57 With Autoinflammation
Failure to thrive, B lymphocytopenia, T lymphocytopenia, Decreased circulating antibody level, Pe... OMIM:618108
Autoimmune Lymphoproliferative Syndrome
Neutropenia in presence of anti-neutropil antibodies, Increased circulating IgA level, Coombs-pos... OMIM:601859
Immunodeficiency 98 With Autoinflammation, X-Linked
Decreased circulating IgG level, Hepatomegaly, Hemophagocytosis, Splenomegaly, B lymphocytopenia,... OMIM:301078
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Decreased proportion of class-switched memory B cells, Decreased circulating IgA level, Decreased... OMIM:614878
Immunodeficiency 86
Impaired oxidative burst, Decreased circulating IgG level, Increased circulating IgM level OMIM:619549
Immunodeficiency 96
Increased mean corpuscular volume, Decreased circulating IgA level, Increased proportion of gamma... OMIM:619774
Immunodeficiency By Defective Expression Of Mhc Class Ii
Lack of T cell function, Decreased lymphocyte proliferation in response to mitogen, Failure to th... ORPHA:572
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Autoimmune hemolytic anemia, Increased circulating antibody level, Lymphopenia, Plasmacytosis OMIM:247800
Cyclic Neutropenia
Cyclic neutropenia, Neutropenia OMIM:162800
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Decreased specific pneumococcal antibody level, Impaired lymphocyte transformation with phytohema... OMIM:617006
X-Linked Severe Congenital Neutropenia
Monocytopenia, Neutropenia ORPHA:86788
Whim Syndrome 2
Chronic neutropenia OMIM:619407
Immunodeficiency With Hyper-Igm, Type 1
Hepatomegaly, Impaired memory B cell generation, Absence of lymph node germinal center, Decreased... OMIM:308230
Griscelli Syndrome, Type 2
Hepatosplenomegaly, Reduced delayed hypersensitivity, Hemophagocytosis OMIM:607624
Macrocephaly/Autism Syndrome
Hepatomegaly, Lymphopenia, Splenomegaly, Decreased circulating antibody level, Obesity OMIM:605309
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Failure to thrive, Decreased circulating IgA level, Lymphopenia, Hepatomegaly, Splenomegaly, Abse... OMIM:102700
Lymphangiectasia, Intestinal
Stillbirth, Intestinal lymphangiectasia, Decreased circulating IgG level, Lymphopenia OMIM:152800
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive
Eosinophilia, Decreased circulating total IgM, Increased circulating IgG level, Decreased proport... OMIM:243700
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, B lymphocytopenia, Neutropenia OMIM:613107
Proteasome-Associated Autoinflammatory Syndrome 2
Failure to thrive, Increased circulating IgA level, Abnormal circulating IgM level, Increased cir... OMIM:618048
Transcobalamin Ii Deficiency
Failure to thrive, Decreased circulating IgA level, Neutropenia, Decreased circulating IgG level,... OMIM:275350
Neutropenia, Severe Congenital, 7, Autosomal Recessive
Neutropenia OMIM:617014
Reticular Dysgenesis
Failure to thrive, Leukopenia, Abnormality of neutrophils, Weight loss, Decreased circulating ant... ORPHA:33355
Immunodeficiency 36
Decreased circulating IgA level, Decreased circulating IgG level, Lymphopenia, Enlarged tonsils, ... OMIM:616005
Ataxia-Pancytopenia Syndrome
Hypoplastic anemia, Acute myelomonocytic leukemia, Splenomegaly, Abnormal platelet function, Abno... ORPHA:2585
Hepatic Venoocclusive Disease With Immunodeficiency
Abnormality of the liver, Decreased circulating IgG level, Absence of lymph node germinal center OMIM:235550
Immunodeficiency 37
Decreased proportion of central memory CD4-positive, alpha-beta T cells, Decreased circulating an... OMIM:616098
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Neutropenia ORPHA:90023
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
T lymphocytopenia ORPHA:169095
X-Linked Lymphoproliferative Disease
Hemophagocytosis, Cervical lymphadenopathy, Aplastic anemia, B lymphocytopenia, Increased proport... ORPHA:2442
Immunodeficiency, Common Variable, 8, With Autoimmunity
Failure to thrive, Decreased circulating IgA level, Decreased circulating IgG level, Splenomegaly... OMIM:614700
Primary Intestinal Lymphangiectasia
Decreased circulating IgA level, Peritoneal effusion, Decreased circulating IgG level, Lymphopeni... ORPHA:90362
Trimethylaminuria
Anemia, Neutropenia, Splenomegaly OMIM:602079
Immunodeficiency 84
Perianal abscess, B lymphocytopenia, Splenomegaly OMIM:619437
Immunodeficiency 25
Increased circulating IgA level, Eosinophilia, Complete or near-complete absence of specific anti... OMIM:610163
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hemophagocytosis, Splenomegaly, Abnormal natural killer cell physiology, Hepatosplenomegaly, Decr... OMIM:613101
Agammaglobulinemia 1, Autosomal Recessive
Failure to thrive, B lymphocytopenia, Panhypogammaglobulinemia, Rectal abscess, Decreased circula... OMIM:601495
Immunodeficiency 27A
Histiocytosis, Enlarged mesenteric lymph node, Leukocytosis, Splenomegaly, Hepatosplenomegaly, In... OMIM:209950
Autoimmune Lymphoproliferative Syndrome, Type Iia
Neutropenia in presence of anti-neutropil antibodies, Increased circulating IgA level, Coombs-pos... OMIM:603909
Wiskott-Aldrich Syndrome 2
Decreased proportion of CD8-positive T cells, Thrombocytopenia, Defective T cell proliferation, R... OMIM:614493
Acquired Idiopathic Sideroblastic Anemia
Anemia of inadequate production, Granulocytopenia, Neutropenia, Hepatomegaly, Leukocytosis, Splen... ORPHA:75564
Refractory Anemia
Anemia of inadequate production, Normocytic anemia, Erythroid hypoplasia, Macrocytic anemia, Neut... ORPHA:98826
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Decreased lymphocyte proliferation in response to anti-CD3, Failure to thrive, Lymphopenia, Absen... OMIM:600802
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Failure to thrive, Lymphopenia, Hepatomegaly, Splenomegaly, Aplasia of the thymus, Abnormally low... OMIM:602450
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Neutropenia ORPHA:70592
Congenital Disorder Of Glycosylation, Type Iir
Hepatomegaly, Micronodular cirrhosis, Jaundice, Decreased circulating antibody level, Decreased p... OMIM:301045
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Failure to thrive, Hepatomegaly, Splenomegaly, Increased circulating IgG level, Autoimmune hemoly... OMIM:618495
Agammaglobulinemia 9, Autosomal Recessive
Agammaglobulinemia, Absent circulating B cells, Failure to thrive, Thrombocytopenia OMIM:619693
Immunodeficiency, Common Variable, 4
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:613494
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Splenomegaly, Abscess, B lymphocytopenia, Intermittent thrombocytopenia, Neutropenia, Abnormal CD... OMIM:150550
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency
Decreased circulating IgG level, Neutropenia OMIM:600351
Folate Malabsorption, Hereditary
Failure to thrive, Leukopenia, Neutropenia, Thrombocytopenia, Folate-responsive megaloblastic anemia OMIM:229050
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Decreased circulating antibody level, Lymphopenia ORPHA:1116
Agammaglobulinemia, X-Linked
Decreased circulating IgA level, Decreased circulating IgG level, Complete or near-complete absen... OMIM:300755
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Increased mean corpuscular volume, Neutropenia, Pancytopenia, Bone marrow hypocellularity, Anemia... OMIM:619041
Immunodeficiency 76
Lymphopenia, Splenomegaly, B lymphocytopenia, T lymphocytopenia, Lymphadenopathy OMIM:619164
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Increased circulating antibody level, Decreased lymphocyte proliferation in response to mitogen, ... ORPHA:169160
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased circulating antibody level, Hepatomegaly, Absent isohemagglutinin level, Splenomegaly, ... OMIM:615559
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Leukopenia, Monocytosis, Refractory anemia, Bone marrow hypocellularity, Acute myeloid leukemia OMIM:616871
Immunodeficiency 92
Decreased circulating IgA level, Abnormal B cell proliferation, Decreased circulating IgG level, ... OMIM:619652
Neutropenia, Lethal Congenital, With Eosinophilia
Eosinophilia, Neonatal death, Neutropenia OMIM:257100
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hepatomegaly, Hemophagocytosis, Splenomegaly, Neutropenia, Anemia, Thrombocytopenia, Jaundice, Ly... OMIM:603552
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Megaloblastic anemia, Anemia of inadequate production, Lymphopenia, Macrocytic anemia, Thrombocyt... OMIM:617780
Immunodeficiency, Common Variable, 7
Chronic (near) absent circulating IgG4, Decreased circulating IgA level, Reduced isohemagglutinin... OMIM:614699
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4
Agammaglobulinemia, Decreased circulating antibody level OMIM:616911
Combined Immunodeficiency Due To Dock8 Deficiency
Increased circulating IgE level, B lymphocytopenia, T lymphocytopenia ORPHA:217390
Bare Lymphocyte Syndrome, Type Ii
Failure to thrive, Viral hepatitis, Panhypogammaglobulinemia, Biliary tract abnormality, Cholangi... OMIM:209920
Bone Marrow Failure Syndrome 4
Leukopenia, Decreased circulating antibody level, Bone marrow hypocellularity, Anemia, Thrombocyt... OMIM:618116
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Decreased proportion of naive T cells, Decreased circulating IgA level, Decreased lymphocyte prol... ORPHA:276
Immunodeficiency 81
Impaired collagen-induced platelet aggregation, Abnormally low T cell receptor excision circle le... OMIM:619374
Lymphoproliferative Syndrome, X-Linked, 2
Hepatomegaly, Hemophagocytosis, Splenomegaly, Aplastic anemia, Hepatitis, Decreased circulating a... OMIM:300635
Neutrophilia, Hereditary
Hepatosplenomegaly, Neutrophilia OMIM:162830
Autoimmune Lymphoproliferative Syndrome
Abnormal proportion of CD8-positive T cells, Hepatomegaly, Bone marrow hypocellularity, Reticuloc... ORPHA:3261
Schnitzler Syndrome
Hepatomegaly, Leukocytosis, Splenomegaly, Increased circulating IgM level, Anemia, Lymphadenopathy ORPHA:37748
Monocyte Chemotactic Disorder
Cutaneous anergy OMIM:252250
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Decreased lymphocyte proliferation in response to anti-CD3, Hypoplasia of the thymus, B lymphocyt... OMIM:619313
Immunodeficiency 11
Decreased circulating antibody level OMIM:615206
Retinal Telangiectasia And Hypogammaglobulinemia
Reduced delayed hypersensitivity, Decreased circulating IgG level OMIM:267900
Lymphoproliferative Syndrome 1
Decreased circulating IgG level, Hepatomegaly, Splenomegaly, Leukopenia, Autoimmune thrombocytope... OMIM:613011
Fanconi Anemia, Complementation Group G
Anemia, Thrombocytopenia, Leukemia, Neutropenia OMIM:614082
Bone Marrow Failure Syndrome 6
Increased mean corpuscular volume, Lymphopenia, Persistence of hemoglobin F, Neutropenia, Bone ma... OMIM:618849
Immunodeficiency 47
Failure to thrive, Exocrine pancreatic insufficiency, Hepatomegaly, Splenomegaly, Decreased circu... OMIM:300972
X-Linked Agammaglobulinemia
Failure to thrive, Abnormality of the lymphatic system, Abnormality of the tonsils, Hepatitis, We... ORPHA:47
Bone Marrow Failure Syndrome 5
Anemia, Testicular atrophy, Decreased circulating antibody level, Pure red cell aplasia OMIM:618165
Rosaï-Dorfman Disease
Anemia, Lymphadenopathy, Dysgammaglobulinemia ORPHA:158014
Glutathione Synthetase Deficiency
Hemolytic anemia, Neutropenia OMIM:266130
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Decreased circulating antibody level, Leukocytosis, Splenomegaly OMIM:618042
Leukoencephalopathy, Arthritis, Colitis, And Hypogammaglobulinema
Failure to thrive, Decreased circulating IgG level, Neutropenia OMIM:608809
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 6
Lymphopenia, Abnormally low T cell receptor excision circle level, Decreased circulating antibody... OMIM:619767
Wiskott-Aldrich Syndrome, Autosomal Dominant
Decreased specific anti-polysaccharide antibody level, Increased circulating IgA level, Lymphopen... OMIM:600903
Immunoglobulin M, Level Of
Decreased circulating total IgM OMIM:308250
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Failure to thrive, Coombs-positive hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, H... OMIM:304790
Agammaglobulinemia 5, Autosomal Dominant
Agammaglobulinemia OMIM:613506
Immunodeficiency 104
Hepatomegaly, Splenomegaly, T lymphocytopenia, Failure to thrive secondary to recurrent infection... OMIM:608971
Immunodeficiency 67
Increased circulating IgE level, Liver abscess, Transient neutropenia OMIM:607676
Hemophagocytic Lymphohistiocytosis, Familial, 3
Granulocytopenia, Hemophagocytosis, Hepatosplenomegaly, Reduced natural killer cell activity, Anemia OMIM:608898
Immunodeficiency 15A
Decreased proportion of CD8-positive T cells, Cutaneous abscess, Decreased proportion of CD4-posi... OMIM:618204
Trichothiodystrophy 3, Photosensitive
Failure to thrive, Increased circulating IgA level, Lymphopenia, Neutropenia, Bilateral cryptorch... OMIM:616395
Ataxia-Telangiectasia
Failure to thrive, Lymphopenia, Decreased circulating antibody level, Polycystic ovaries, Aplasia... ORPHA:100
Alpha-Heavy Chain Disease
Hepatomegaly, Splenomegaly, Dysgammaglobulinemia, Anemia, Lymphadenopathy ORPHA:100025
Lymphoproliferative Syndrome 2
Decreased lymphocyte proliferation in response to mitogen, Hepatomegaly, Hemophagocytosis, Spleno... OMIM:615122
Alpha-Thalassemia-Myelodysplastic Syndrome
Splenomegaly, Microcytic anemia, Neutropenia, HbH hemoglobin, Thrombocytopenia, Acute leukemia ORPHA:231401
T-Cell Immunodeficiency With Thymic Aplasia
Failure to thrive, Lymphopenia, Aplasia of the thymus, Abnormally low T cell receptor excision ci... OMIM:242700
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Decreased specific anti-polysaccharide antibody level, Decreased lymphocyte proliferation in resp... OMIM:606367
Familial Hemophagocytic Lymphohistiocytosis
Abnormality of tumor necrosis factor secretion, Increased circulating interleukin 6 concentration... ORPHA:540
Aggressive Systemic Mastocytosis
Neutropenia, Abnormal mast cell morphology, Leukocytosis, Hepatosplenomegaly, Thrombocytopenia, I... ORPHA:98850
Autosomal Agammaglobulinemia
Agammaglobulinemia, Hepatitis, Failure to thrive, Neutropenia ORPHA:33110
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Decreased circulating IgA level, Abnormal T cell morphology, Macronodular cirrhosis, Small for ge... OMIM:215250
Pgm3-Cdg
Cutaneous abscess, Failure to thrive, Abnormal proportion of CD8-positive T cells, Increased circ... ORPHA:443811
Immunodeficiency 17
Failure to thrive, T lymphocytopenia, Decreased proportion of CD8-positive T cells, Abnormal B ce... OMIM:615607
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Neutropenia, Hemophagocytosis, Splenomegaly, Hepatosplenomegaly, Hepatocellular carcinoma, Thromb... ORPHA:158057
Purine Nucleoside Phosphorylase Deficiency
Decreased lymphocyte proliferation in response to mitogen, Failure to thrive, Neutropenia in pres... OMIM:613179
Hemochromatosis, Type 3
Cirrhosis, Anemia, Lymphopenia, Neutropenia OMIM:604250
Combined Immunodeficiency With Faciooculoskeletal Anomalies
Decreased lymphocyte proliferation in response to anti-CD3, Decreased lymphocyte proliferation in... ORPHA:221139
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM OMIM:300861
Aregenerative Anemia
Abnormality of interleukin secretion, Abnormal proportion of CD8-positive T cells, Neutropenia, E... ORPHA:101096
Pontocerebellar Hypoplasia, Type 14
Chronic neutropenia, Thrombocytopenia OMIM:619301
Selective Igm Deficiency
Neutropenia in presence of anti-neutropil antibodies, Decreased proportion of transitional B cell... ORPHA:331235
Pontocerebellar Hypoplasia, Type 15
Anemia, Chronic neutropenia, Thrombocytopenia OMIM:619302
Immunodeficiency, Common Variable, 2
Decreased circulating IgA level, Decreased circulating IgG level, Hepatomegaly, Splenomegaly, Par... OMIM:240500
Ataxia-Pancytopenia Syndrome
Hypoplastic anemia, Acute myelomonocytic leukemia, Pancytopenia, Neutropenia, Anemia, Thrombocyto... OMIM:159550
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Increased circulating IgA level, Neutrophilia, Leukocytosis, Increased circulating IgM level, Inc... OMIM:617099
Neutropenia, Severe Congenital, 3, Autosomal Recessive
Acute lymphoblastic leukemia, Neutropenia OMIM:610738
Septopreoptic Holoprosencephaly
Hypoplasia of the pons, Anterior hypopituitarism, Ethmoidal encephalocele, Abnormal midbrain morp... ORPHA:280195
Immunodeficiency 23
Failure to thrive, Lymphopenia, Eosinophilia, Abscess, Increased circulating IgG level, Hemolytic... OMIM:615816
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults
Acute myeloid leukemia, Neutropenia OMIM:607847
Wiskott-Aldrich Syndrome
Decreased specific anti-polysaccharide antibody level, Increased circulating IgA level, Lymphopen... OMIM:301000
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature
Decreased circulating total IgM OMIM:615139
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Failure to thrive, Decreased circulating IgA level, T lymphocytopenia, Increased circulating IgM ... OMIM:242860
Immunodeficiency With Hyper-Igm, Type 5
Decreased circulating IgA level, Decreased circulating IgG level, Increased circulating IgM level... OMIM:608106
Schimke Immunoosseous Dysplasia
Neutropenia, Lymphopenia, Small for gestational age, Thrombocytopenia, Elevated circulating thyro... OMIM:242900
Omenn Syndrome
Failure to thrive, Hepatomegaly, Splenomegaly, Eosinophilia, Hypoplasia of the thymus, Severe B l... OMIM:603554
Felty Syndrome
Hepatomegaly, Splenomegaly, Abnormal lymphocyte morphology, Weight loss, Neutropenia, Bone marrow... ORPHA:47612
Fanconi Anemia, Complementation Group V
Bone marrow hypocellularity, Anemia, Thrombocytopenia, Neutropenia OMIM:617243
Immunodeficiency 33
Decreased circulating total IgM, Increased circulating IgA level OMIM:300636
Dyskeratosis Congenita, Digenic
Failure to thrive, Decreased circulating IgA level, Decreased circulating IgG level, Decreased ci... OMIM:620040
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Neutropenia in presence of anti-neutropil antibodies, Splenomegaly, B lymphocytopenia, T lymphocy... ORPHA:231154
Joubert Syndrome 13
Molar tooth sign on MRI OMIM:614173
Diamond-Blackfan Anemia 11
Bone marrow hypocellularity, Anemia of inadequate production, Anemia, Neutropenia OMIM:614900
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Failure to thrive, Pancreatitis, Hepatomegaly, Splenomegaly, Neutropenia, Anemia, Thrombocytopenia ORPHA:79312
Spastic Ataxia-Corneal Dystrophy Syndrome
Decreased circulating antibody level ORPHA:2572
Immunodeficiency 13
Lymphopenia, B lymphocytopenia, T lymphocytopenia, Decreased proportion of CD4-positive helper T ... OMIM:615518
Specific Granule Deficiency 1
Absent neutrophil lactoferrin, Hyposegmentation of neutrophil nuclei, Impaired neutrophil bacteri... OMIM:245480
Dyskeratosis Congenita, Autosomal Recessive 5
Bone marrow hypocellularity, Leukopenia, Decreased circulating antibody level OMIM:615190
Macrophage Activation Syndrome
Abnormality of tumor necrosis factor secretion, Increased circulating interleukin 6 concentration... ORPHA:158061
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Hepatomegaly, Hepatosplenomegaly, Absence of lymph node germinal center, T lymphocytopenia, Panhy... ORPHA:79124
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Failure to thrive, Decreased circulating IgA level, Decreased circulating IgG level, Decreased pr... ORPHA:275
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
Abnormally low T cell receptor excision circle level, T lymphocytopenia OMIM:618806
Leishmaniasis
Increased circulating antibody level, Hepatomegaly, Splenomegaly, Leukopenia, Abnormal macrophage... ORPHA:507
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Abnormality of T cell physiology OMIM:308220
Immunodeficiency 75
Decreased proportion of class-switched memory B cells, Hepatosplenomegaly, Follicular hyperplasia... OMIM:619126
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Decreased circulating IgA level, Exocrine pancreatic insufficiency, Decreased circulating IgG lev... OMIM:620005
Boutonneuse Fever
Cervical lymphadenopathy, Leukopenia, Increased circulating IgG level, Increased circulating IgM ... ORPHA:83313
Congenital Disorder Of Glycosylation, Type Iif
Thrombocytopenia, Macrothrombocytopenia, Decreased platelet glycoprotein Ib, Neutropenia OMIM:603585
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
Decreased helper T cell proportion, T lymphocytopenia OMIM:601705
Anemia, Sideroblastic, 5
Hypochromic microcytic anemia, Neutropenia, Reduced hematocrit, Anemia, Thrombocytopenia OMIM:619523
Hydrolethalus Syndrome 2
Hydrocephalus, Anencephaly, Agenesis of corpus callosum, Molar tooth sign on MRI OMIM:614120
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Abnormal reticulocyte morphology, Anisocytosis, Macrocytic anemia, Poikilocytosis, Increased hemo... OMIM:300835
Immunodeficiency With Hyper-Igm, Type 2
Decreased circulating IgA level, Impaired Ig class switch recombination, Decreased circulating Ig... OMIM:605258
3-Methylglutaconic Aciduria, Type Viii
Neutropenia OMIM:617248
Griscelli Syndrome
Hepatomegaly, Splenomegaly, Leukopenia, Abnormality of neutrophils, Hepatitis, Decreased circulat... ORPHA:381
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency
Failure to thrive, Large for gestational age, Neutropenia, Bone marrow hypocellularity, Anemia, T... OMIM:614520
Spinocerebellar Ataxia, Autosomal Recessive 23
Neutropenia OMIM:616949
Maternal Uniparental Disomy Of Chromosome 1
Pancytopenia, Failure to thrive, Hepatomegaly, Panhypogammaglobulinemia ORPHA:251009
Developmental And Epileptic Encephalopathy 66
Anemia, Cryptorchidism, Neutropenia OMIM:618067
Immunodeficiency, Common Variable, 6
Hepatomegaly, Decreased specific pneumococcal antibody level, Chronic decreased circulating total... OMIM:613496
Candidiasis, Familial, 1
Cutaneous anergy OMIM:114580
Specific Granule Deficiency 2
Failure to thrive, Neutropenia, Anemia, Thrombocytopenia, Absent neutrophil specific granules OMIM:617475
Immunodeficiency 68
Lymphadenitis, Abscess, B lymphocytopenia, T lymphocytopenia, Abnormal natural killer cell count OMIM:612260
Schimke Immuno-Osseous Dysplasia
Failure to thrive, Lymphopenia, Pancreatitis, Small for gestational age, Impaired T cell function... ORPHA:1830
Leukodystrophy, Hypomyelinating, 24
B lymphocytopenia OMIM:619851
Immunodeficiency With Hyper-Igm, Type 4
Autoimmune hemolytic anemia, Impaired Ig class switch recombination, Autoimmune thrombocytopenia,... OMIM:608184
Hermansky-Pudlak Syndrome 2
Enlarged platelet dense granules, Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Thrombocytopeni... OMIM:608233
Icf Syndrome
Abnormality of neutrophils, Anemia, Decreased circulating antibody level, Lymphopenia ORPHA:2268
Wolfram Syndrome, Mitochondrial Form
Thrombocytopenia, Megaloblastic anemia, Sideroblastic anemia, Neutropenia OMIM:598500
Immunodeficiency 61
Agammaglobulinemia, Obesity OMIM:300310
Osteopetrosis, Autosomal Recessive 7
Decreased circulating IgA level, Decreased circulating IgG level, Hepatomegaly, Splenomegaly, Dec... OMIM:612301
Immunodeficiency 89 And Autoimmunity
Reduced circulating interleukin 27 concentration, Increased circulating IgA level, Reduced circul... OMIM:619632
Diamond-Blackfan Anemia 8
Increased mean corpuscular volume, Neutropenia, Macrocytic anemia OMIM:612563
Multiple Epiphyseal Dysplasia, Al-Gazali Type
Molar tooth sign on MRI, Agenesis of corpus callosum, Short stature ORPHA:166024
Autosomal Dominant Severe Congenital Neutropenia
Lymphopenia, Eosinophilia, Monocytosis, Aplastic anemia, Acute lymphoblastic leukemia, Neutropeni... ORPHA:486
Griscelli Syndrome Type 2
Neutropenia, Hepatomegaly, Hemophagocytosis, Splenomegaly, Pancytopenia, Lymphadenopathy, Jaundice ORPHA:79477
Idiopathic Aplastic Anemia
Pancytopenia, Neutropenia, Bone marrow hypocellularity, Anemia, Thrombocytopenia, Reticulocytopenia ORPHA:88
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Exocrine pancreatic insufficiency, Neutropenia in presence of anti-neutropil antibodies, Hepatosp... OMIM:615952
Kimura Disease
Eosinophilia, Follicular hyperplasia, Abnormal salivary gland morphology, Increased circulating I... ORPHA:482
Immunodeficiency 82 With Systemic Inflammation
Decreased proportion of naive T cells, Decreased lymphocyte proliferation in response to mitogen,... OMIM:619381
Sodium-Dependent Multivitamin Transporter Deficiency
Decreased circulating IgG level OMIM:618973
Immunodeficiency, Common Variable, 12, With Autoimmunity
Autoimmune hemolytic anemia, Thrombocytopenia, Decreased circulating antibody level OMIM:616576
Immunodeficiency 15B
Agammaglobulinemia, Failure to thrive, Decreased circulating antibody level OMIM:615592
Bloom Syndrome
Abdominal obesity, Decreased circulating IgA level, Abnormal proportion of CD8-positive T cells, ... ORPHA:125
Hereditary Folate Malabsorption
Megaloblastic anemia, Failure to thrive, Eosinophilia, Decreased circulating antibody level, Panc... ORPHA:90045
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Splenomegaly, Hypochromic microcytic anemia, Schistocytosis, B lymphocytopenia, Decreased circula... OMIM:616084
Pelger-Huet Anomaly
Failure to thrive, Hyposegmentation of neutrophil nuclei, Abnormality of neutrophils, Giant plate... OMIM:169400
Cyclic Neutropenia
Lymphopenia, Recurrent tonsillitis, Cervical lymphadenopathy, Peritonitis, Cyclic neutropenia, Pe... ORPHA:2686
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Decreased lymphocyte proliferation in response to mitogen, Decreased circulating IgG level, Lymph... ORPHA:508533
Thrombocytopenia 5
Anemia, Thrombocytopenia, Neutropenia OMIM:616216
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy
Microcytic anemia, Hepatomegaly, Neutropenia OMIM:251900
Roifman Syndrome
Eosinophilia, Lymphadenopathy, Decreased circulating antibody level, Hepatosplenomegaly ORPHA:353298
Mucopolysaccharidosis-Plus Syndrome
Hepatomegaly, Splenomegaly, Leukopenia, Macrovesicular hepatic steatosis, Patent ductus arteriosu... OMIM:617303
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
T lymphocytopenia DECIPHER:16
Mogs-Cdg
Hydrocele testis, Decreased circulating IgA level, Decreased circulating IgG level, Hepatomegaly,... ORPHA:79330
Chediak-Higashi Syndrome
Hepatomegaly, Hemophagocytosis, Splenomegaly, Abnormal dense granules, Leukopenia, Impaired neutr... OMIM:214500
Common Variable Immunodeficiency
Lymphopenia, Splenomegaly, Autoimmune thrombocytopenia, Hemolytic anemia, Decreased circulating a... ORPHA:1572
Whim Syndrome
Lymphopenia, Lymphadenitis, Decreased circulating antibody level, Neutropenia, Parotitis, Abnorma... ORPHA:51636
Deafness-Lymphedema-Leukemia Syndrome
Hepatomegaly, Leukocytosis, Splenomegaly, Myeloproliferative disorder, Abnormal neutrophil count,... ORPHA:3226
Dyskeratosis Congenita, Autosomal Dominant 2
Failure to thrive, Leukopenia, Aplastic anemia, Pancytopenia, Hepatic fibrosis, Neutropenia, Bone... OMIM:613989
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Pancreatitis, Hepatomegaly, Neutropenia, Anemia, Thrombocytopenia ORPHA:289916
Obesity Due To Congenital Leptin Deficiency
Hypoplasia of the ovary, Decreased T cell activation, Decreased proportion of CD4-positive helper... ORPHA:66628
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Lymphopenia, Leukopenia, B lymphocytopenia, Neutropenia, Bone marrow hypocellularity, Anemia, Thr... ORPHA:508542
Secondary Intestinal Lymphangiectasia
Decreased circulating IgA level, Lymphopenia, Cirrhosis, Decreased circulating total IgM, Decreas... ORPHA:90363
Felty Syndrome
Splenomegaly, Neutropenia OMIM:134750
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Hydrocele testis, Congenital thrombocytopenia, Neutropenia, Anemia, Thrombocytopenia OMIM:616738
Immunodeficiency, Common Variable, 5
Chronic decreased circulating total IgG OMIM:613495
Meckel Syndrome 13
Occipital encephalocele, Molar tooth sign on MRI OMIM:617562
Obesity Due To Leptin Receptor Gene Deficiency
Hypoplasia of the ovary, Decreased T cell activation, Decreased proportion of CD4-positive helper... ORPHA:179494
Immunodeficiency 91 And Hyperinflammation
Failure to thrive, Hepatomegaly, Neutrophilia, Hemophagocytosis, Hepatosplenomegaly, Monocytosis,... OMIM:619644
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Failure to thrive, Decreased response to growth hormone stimulation test, Severe B lymphocytopeni... ORPHA:293978
Neutropenia, Severe Congenital, 8, Autosomal Dominant
Exocrine pancreatic insufficiency, Neutropenia OMIM:618752
Immune Deficiency Disease
Decreased circulating total IgM, Fulminant hepatitis, Cholangitis OMIM:242850
Diamond-Blackfan Anemia 4
Neutropenia, Erythroid hypoplasia, Reticulocytopenia, Macrocytic anemia OMIM:612527
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Decreased circulating antibody level OMIM:614069
Aspergillosis
Eosinophilia, Increased circulating IgE level, Hepatitis, Neutropenia ORPHA:1163
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Failure to thrive, Patent ductus arteriosus, Neutropenia, Cryptorchidism, Thrombocytopenia, Normo... OMIM:614857
Slc35A1-Cdg
Thrombocytopenia, Abnormal platelet granules, Giant platelets, Neutropenia ORPHA:238459
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Lymphopenia, Leukocytosis, Hypoplasia of the thymus, Thrombocytosis, Impaired lymphocyte transfor... OMIM:243150
Popov-Chang syndrome
Failure to thrive, Decreased circulating antibody level, Lymphopenia OMIM:618428
Holoprosencephaly, Recurrent Infections, And Monocytosis
Failure to thrive, Cryptorchidism, Monocytosis OMIM:610680
Autoinflammation With Arthritis And Dyskeratosis
Failure to thrive, Increased circulating IgA level, Hepatomegaly, Splenomegaly, Increased circula... OMIM:617388
Sting-Associated Vasculopathy, Infantile-Onset
Failure to thrive, Increased circulating IgA level, Lymphopenia, Leukopenia, Follicular hyperplas... OMIM:615934
Sézary Syndrome
Hepatomegaly, Splenomegaly, Abnormal immunoglobulin level, Abnormal lymphocyte morphology, Lympha... ORPHA:3162
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Failure to thrive, Pancreatitis, Hepatomegaly, Leukopenia, Neutropenia, Thrombocytopenia OMIM:251000
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Anemia, Neutropenia OMIM:617056
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Neutrophilia, Leukocytosis, Abnormally low T cell receptor excision circle level, Impaired neutro... OMIM:608203
O'Sullivan-Mcleod Syndrome
Increased circulating antibody level, Eosinophilia ORPHA:99965
Imerslund-Gräsbeck Syndrome
Megaloblastic anemia, Failure to thrive, Neutropenia, Anisopoikilocytosis, Macrocytic anemia, Thr... ORPHA:35858
Netherton Syndrome
Failure to thrive, Increased circulating IgE level, Decreased circulating IgG level, Hypereosinop... OMIM:256500
Joubert Syndrome 36
Molar tooth sign on MRI OMIM:618763
Congenital Disorder Of Glycosylation, Type Iic
Reduction of neutrophil motility, Neutrophilia OMIM:266265
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Hepatic cysts, Eosinophilia, Decreased circulating antibody level, Lymphopenia OMIM:617425
Bloom Syndrome
Decreased circulating IgA level, Decreased circulating IgG level, Small for gestational age, Elev... OMIM:210900
Cohen Syndrome
Decreased response to growth hormone stimulation test, Small for gestational age, Leukopenia, Chi... OMIM:216550
Immunodeficiency, Common Variable, 10
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... OMIM:615577
Subacute Inflammatory Demyelinating Polyneuropathy
Increased circulating IgG level, Leukocytosis ORPHA:206594
Hemophagocytic Syndrome Associated With An Infection
Neutropenia, Hepatomegaly, Abnormal T cell subset distribution, Hemophagocytosis, Splenomegaly, A... ORPHA:158048
Joubert Syndrome 16
Encephalocele, Molar tooth sign on MRI OMIM:614465
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies
Hepatosplenomegaly, Microcytic anemia, Decreased circulating antibody level, Lymphadenopathy OMIM:619750
Igg4-Related Aortitis
Increased circulating antibody level, Complement deficiency, Increased circulating IgG4 level, We... ORPHA:449400
Fanconi Anemia, Complementation Group I
Bone marrow hypocellularity, Decreased body weight, Decreased response to growth hormone stimulat... OMIM:609053
Lambert Syndrome
Intrahepatic biliary atresia, Cholestasis, Decreased circulating antibody level, Jaundice, Failur... ORPHA:1296
Immunoneurologic Disorder, X-Linked
Decreased circulating IgG2 level, Neonatal death, Small for gestational age OMIM:300076
Acute Promyelocytic Leukemia
Leukocytosis, Leukopenia, Pancytopenia, Weight loss, Neutropenia, Anemia, Thrombocytopenia, Lymph... ORPHA:520
Immunodeficiency 59 And Hypoglycemia
Hepatomegaly, Decreased proportion of class-switched memory B cells, Decreased circulating antibo... OMIM:233600
Good Syndrome
Abnormal leukocyte morphology, Thymoma, Mediastinal lymphadenopathy, Decreased circulating antibo... ORPHA:169105
Joubert Syndrome 18
Intrauterine growth retardation, Molar tooth sign on MRI OMIM:614815
Neonatal Lupus Erythematosus
Neutropenia, Hepatomegaly, Splenomegaly, Aplastic anemia, Hemolytic anemia, Pancytopenia, Anemia,... ORPHA:398124
Combined Immunodeficiency Due To Zap70 Deficiency
Decreased lymphocyte proliferation in response to mitogen, Failure to thrive, Lymphocytosis, Abno... ORPHA:911
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Neutropenia in presence of anti-neutropil antibodies, Splenomegaly, Cachexia, Autoimmune thromboc... ORPHA:37042
Propionic Acidemia
Failure to thrive, Pancreatitis, Hepatomegaly, Pancytopenia, Neutropenia, Anemia, Thrombocytopenia OMIM:606054
Meckel Syndrome, Type 4
Intrauterine growth retardation, Hydrocephalus, Anencephaly, Meningocele, Encephalocele, Molar to... OMIM:611134
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Agammaglobulinemia, Anemia, Lymphopenia, Abnormality of the pancreas ORPHA:935
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Failure to thrive, Lymphopenia, Hepatomegaly, Cryptorchidism, Splenomegaly, Hypoplasia of the thy... OMIM:612541
Retinal Venous Beading
Neutropenia OMIM:180080
Pneumocystosis
Increased circulating antibody level, Weight loss, Abnormal neutrophil count ORPHA:723
Immunodeficiency 55
Neutropenia, Lymphopenia, Lymphadenopathy, Absent natural killer cells OMIM:617827
Thymic Aplasia
Decreased proportion of naive T cells, Decreased lymphocyte proliferation in response to mitogen,... ORPHA:83471
3-Methylglutaconic Aciduria Type 7
Bone marrow hypocellularity, Infection associated neutropenia, Hepatic steatosis, Neutropenia ORPHA:445038
Ataxia-Telangiectasia
Failure to thrive, Decreased circulating IgA level, Decreased circulating IgG level, Lymphopenia,... OMIM:208900
Shwachman-Diamond Syndrome
Exocrine pancreatic insufficiency, Hepatomegaly, Aplastic anemia, Macrocytic anemia, Pancreatic h... ORPHA:811
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Decreased circulating IgA level, Decreased circulating IgG level, Viral hepatitis, Recurrent tons... ORPHA:183675
Saul-Wilson Syndrome
Neutropenia OMIM:618150
Proteasome-Associated Autoinflammatory Syndrome 3
Increased circulating antibody level, Failure to thrive, Lymphopenia, Hepatomegaly, Splenomegaly,... OMIM:617591
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Cholelithiasis, Failure to thrive, Hepatomegaly, Cryptorchidism, Decreased circulating total IgM,... ORPHA:83617
Joubert Syndrome 10
Growth delay, Molar tooth sign on MRI OMIM:300804
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Failure to thrive, Decreased circulating IgA level, Decreased circulating antibody level OMIM:617744
Neonatal Alloimmune Neutropenia
Neutropenia in presence of anti-neutropil antibodies, Jaundice ORPHA:464370
Cd8 Deficiency, Familial
Absence of CD8-positive T cells OMIM:608957
Congenital Enterovirus Infection
Leukocytosis, Leukopenia, Cholestasis, Abnormal macrophage morphology, Hepatitis, Neutropenia, An... ORPHA:292
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Enteroviral hepatitis, Absent circulating B cells, Decreased response to growth hormone stimulati... OMIM:307200
Joubert Syndrome 7
Encephalocele, Molar tooth sign on MRI, Brainstem dysplasia, Hypoplasia of the brainstem OMIM:611560
Gómez-López-Hernández Syndrome
Hydrocephalus, Abnormal brainstem morphology, Short stature ORPHA:1532
Immune Deficiency, Familial Variable
Decreased circulating IgA level, Decreased circulating IgG level OMIM:146830
Wolcott-Rallison Syndrome
Exocrine pancreatic insufficiency, Decreased body weight, Hepatomegaly, Lymphocytosis, Iron defic... ORPHA:1667
Barth Syndrome
Failure to thrive, Granulocytopenia, Hypochromic microcytic anemia, Cyclic neutropenia, Neutropenia OMIM:302060
Methylcobalamin Deficiency Type Cble
Increased mean corpuscular volume, Failure to thrive, Neutropenia, Macrocytic anemia, Pancytopeni... ORPHA:2169
Congenital Disorder Of Glycosylation, Type Iil
Decreased specific anti-polysaccharide antibody level, Failure to thrive, Hepatomegaly, Splenomeg... OMIM:614576
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Hepatomegaly, Coombs-positive hemolytic anemia, Splenomegaly, Autoimmune thrombocytopenia, Decrea... OMIM:619375
Developmental Delay, Hypotonia, And Impaired Language
Cryptorchidism, Neutropenia OMIM:620012
Letterer-Siwe Disease
Hepatosplenomegaly, Neutropenia, Anemia, Thrombocytopenia, Jaundice OMIM:246400
Vici Syndrome
Failure to thrive, Decreased circulating IgG level, Decreased T cell activation, Decreased propor... OMIM:242840
Orofaciodigital Syndrome Xv
Molar tooth sign on MRI, Agenesis of corpus callosum OMIM:617127
Shwachman-Diamond Syndrome 1
Failure to thrive, Exocrine pancreatic insufficiency, Hepatomegaly, Small for gestational age, Pe... OMIM:260400
Thymoma
Abnormal lymphocyte physiology, Aplastic anemia, Imbalanced hemoglobin synthesis, Pure red cell a... ORPHA:99867
Angiostrongyliasis
Increased circulating IgA level, Increased circulating IgG level, Increased circulating specific ... ORPHA:74
Necrotizing Enterocolitis
Leukocytosis, Small for gestational age, Peritonitis, Neutropenia, Thrombocytopenia ORPHA:391673
Methylmalonic Aciduria, Cblb Type
Failure to thrive, Hepatomegaly, Pancytopenia, Neutropenia, Anemia, Thrombocytopenia OMIM:251110
Gamma-A-Globulin, Defect In Assembly Of
Decreased circulating IgA level OMIM:137050
3-Methylglutaconic Aciduria, Type Viia
Anemia, Anisopoikilocytosis, Neutropenia OMIM:619835
Sepsis In Premature Infants
Increased circulating interleukin 6 concentration, Decreased body weight, Hepatomegaly, Leukocyto... ORPHA:90051
Orotic Aciduria
Hypochromia, Failure to thrive, Folate-unresponsive megaloblastic anemia, Anisocytosis, Impaired ... OMIM:258900
Joubert Syndrome 9
Encephalocele, Molar tooth sign on MRI OMIM:612285
Fanconi Anemia, Complementation Group C
Neutropenia, Cryptorchidism, Small for gestational age, Thrombocytopenia, Pancytopenia, Bone marr... OMIM:227645
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Failure to thrive, Defective T cell proliferation, Leukocytosis, Hypochromic anemia, Increased ci... OMIM:618213
Methylmalonic Aciduria, Cbla Type
Failure to thrive, Hepatomegaly, Pancytopenia, Neutropenia, Anemia, Thrombocytopenia OMIM:251100
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Agammaglobulinemia, Cryptorchidism, Decreased circulating antibody level OMIM:616910
Chédiak-Higashi Syndrome
Abnormal leukocyte morphology, Neutropenia, Vacuolated lymphocytes, Hemophagocytosis, Splenomegal... ORPHA:167
Onychotrichodysplasia And Neutropenia
Chronic neutropenia, Lymphocytosis, Neutropenia OMIM:258360
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Megaloblastic anemia, Failure to thrive, Pancytopenia, Neutropenia, Thrombocytopenia OMIM:277380
Coach Syndrome 2
Hydrocephalus, Molar tooth sign on MRI, Agenesis of corpus callosum OMIM:619111
Hyper-Igd Syndrome
Increased circulating IgA level, Neutrophilia, Leukocytosis, Splenomegaly, Increased circulating ... OMIM:260920
Systemic Mastocytosis With Associated Hematologic Neoplasm
Abnormal mast cell morphology, Neutrophilia, Leukocytosis, Splenomegaly, Hepatomegaly, Myeloproli... ORPHA:98849
Mirage Syndrome
Decreased body weight, Lymphopenia, Cryptorchidism, Leukopenia, Patent ductus arteriosus, Hypopla... OMIM:617053
Smith-Kingsmore Syndrome
Large for gestational age, Decreased circulating IgA level, Thrombocytopenia, Cryptorchidism OMIM:616638
Okur-Chung Neurodevelopmental Syndrome
Failure to thrive, Decreased circulating IgA level, Decreased circulating antibody level, Decreas... OMIM:617062
Cartilage-Hair Hypoplasia
Lymphopenia, Congenital hypoplastic anemia, Macrocytic anemia, Impaired lymphocyte transformation... OMIM:250250
Ebola Hemorrhagic Fever
Increased circulating antibody level, Lymphopenia, Leukopenia, Acute pancreatitis, Hepatitis, Thr... ORPHA:319218
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome
Decreased circulating antibody level ORPHA:85317
Autoimmune Polyendocrinopathy Type 4
Thymoma, Leukopenia, Autoimmune thrombocytopenia, Macrocytic anemia, Non-caseating epithelioid ce... ORPHA:227990
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Decreased circulating IgG level, Neutropenia OMIM:271510
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Neutrophilia, Abnormality of the lymph nodes, Brain abscess, Abnormality of the lymphatic system,... ORPHA:54251
Joubert Syndrome 22
Intrauterine growth retardation, Molar tooth sign on MRI OMIM:615665
Adult-Onset Still Disease
Hepatomegaly, Neutrophilia, Leukocytosis, Splenomegaly, Generalized lymphadenopathy, Hepatitis, B... ORPHA:829
Nijmegen Breakage Syndrome
B lymphocytopenia, T lymphocytopenia, Dysgammaglobulinemia, Autoimmune hemolytic anemia, Thromboc... OMIM:251260
Mgat2-Cdg
Decreased lymphocyte proliferation in response to mitogen, Failure to thrive, Decreased circulati... ORPHA:79329
Zika Virus Disease
Thrombocytopenia, Increased circulating IgM level ORPHA:448237
Hereditary Orotic Aciduria
Anemia, Impaired T cell function, Patent ductus arteriosus, Splenomegaly ORPHA:30
Epidermodysplasia Verruciformis, Susceptibility To, 5
Lymphopenia, T lymphocytopenia OMIM:618309
Slc35A2-Cdg
Short stature, Atrophy/Degeneration affecting the brainstem, Lateral ventricle dilatation, Elevat... ORPHA:356961
Cowden Syndrome 1
Hydrocele testis, Lymphopenia, Ovarian cyst, Decreased circulating antibody level, Goiter, Ovaria... OMIM:158350
Immunoglobulin A Deficiency 1
Decreased circulating IgA level OMIM:137100
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Lymphopenia, Hepatomegaly, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Leukopenia, Thrombocyt... OMIM:615688
Tempi Syndrome
Increased hematocrit, Polycythemia, Increased circulating IgG level ORPHA:284227
Joubert Syndrome 4
Elongated superior cerebellar peduncle, Thickened superior cerebellar peduncle, Molar tooth sign ... OMIM:609583
Myotonic Dystrophy 2
Decreased circulating total IgM, Elevated circulating follicle stimulating hormone level, Decreas... OMIM:602668
Microcephaly With Chemotactic Defect And Transient Hypogammaglobulinemia
Transient hypogammaglobulinemia of infancy OMIM:251240
Fusariosis
Lymphopenia, Peritonitis, Abnormality of the spleen, Brain abscess, Neutropenia, Granuloma, Lung ... ORPHA:228119
Hermansky-Pudlak Syndrome 10
Neutropenia, Hepatomegaly, Splenomegaly OMIM:617050
Poikiloderma With Neutropenia
Leukopenia, Neutropenia, Splenomegaly OMIM:604173
Methylmalonic Acidemia With Homocystinuria Type Cblf
Megaloblastic anemia, Failure to thrive, Reduced number of intrahepatic bile ducts, Neutropenia ORPHA:79284
Meckel Syndrome, Type 10
Occipital encephalocele, Anencephaly, Molar tooth sign on MRI OMIM:614175
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Thrombocytosis, Decreased circulating antibody level, Hepatomegaly, Iron deficiency anemia OMIM:226300
Mannosidosis, Alpha B, Lysosomal
Hepatomegaly, Decreased circulating antibody level, Vacuolated lymphocytes, Splenomegaly OMIM:248500
Fanconi Anemia, Complementation Group E
Cryptorchidism, Small for gestational age, Thrombocytopenia, Pancytopenia, Neutropenia, Anemia, L... OMIM:600901
Ravine Syndrome
Atrophy/Degeneration affecting the brainstem, Abnormal brainstem morphology ORPHA:99852
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)
Failure to thrive, Small for gestational age, Neutropenia OMIM:615471
Multiple Myeloma
Increased circulating IgA level, Splenomegaly, Increased circulating IgG level, Weight loss, Decr... ORPHA:29073
Cystic Echinococcosis
Increased circulating antibody level, Abnormality of the testis size, Cholestatic liver disease, ... ORPHA:400
Autoimmune Polyendocrinopathy Type 3
Thymoma, Leukopenia, Autoimmune thrombocytopenia, Autoimmune hypoparathyroidism, Macrocytic anemi... ORPHA:227982
Duplication Of The Pituitary Gland
Abnormality of the pituitary gland, Abnormal hypothalamus morphology, Short stature, Abnormal mid... ORPHA:314621
Simple Cryoglobulinemia
Viral hepatitis, Complement deficiency, Monoclonal elevation of circulating IgA, Monoclonal eleva... ORPHA:91139
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Hydrocephalus, Fusion of the left and right thalami, Hypoplasia of the pons, Midline brainstem cl... OMIM:617542
Alg12-Cdg
Failure to thrive, Partial absence of specific antibody response to Haemophilus influenzae type b... ORPHA:79324
Orofaciodigital Syndrome Vi
Short stature, Molar tooth sign on MRI, Hypothalamic hamartoma OMIM:277170
Wiskott-Aldrich Syndrome
Lymphopenia, Abnormal eosinophil morphology, Hypoplasia of the thymus, Abnormal platelet function... ORPHA:906
Shwachman-Diamond Syndrome 2
Failure to thrive, Exocrine pancreatic insufficiency, Hepatomegaly, Hyperechogenic pancreas, Norm... OMIM:617941