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Gene: Rhoh MGI:1921984

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Gene Summary

Name:
ras homolog family member H
Synonyms:
Arhh,  5830400A04Rik

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IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

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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 0.0% (0 of 2)
Aorta N/A heterozygote 0.0% (0 of 2)
Bone N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 0.0% (0 of 2)
Brainstem N/A heterozygote 0.0% (0 of 2)
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 0.0% (0 of 2)
Cecum N/A heterozygote 0.0% (0 of 1)
Cerebellum N/A heterozygote 0.0% (0 of 2)
Cerebral cortex N/A heterozygote 0.0% (0 of 2)
Esophagus N/A heterozygote 0.0% (0 of 2)
Eye N/A heterozygote Not available
Gall bladder N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote 0.0% (0 of 2)
Hippocampus N/A heterozygote 0.0% (0 of 2)
Hypothalamus N/A heterozygote 0.0% (0 of 2)
Kidney N/A heterozygote 0.0% (0 of 2)
Large intestine N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote 0.0% (0 of 2)
Lung N/A heterozygote 0.0% (0 of 2)
Lymph node N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Mesenteric lymph node N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote 0.0% (0 of 2)
Oral epithelium N/A heterozygote 0.0% (0 of 2)
Ovary N/A heterozygote 0.0% (0 of 2)
Oviduct N/A heterozygote 0.0% (0 of 2)
Pancreas N/A heterozygote 0.0% (0 of 2)
Parathyroid gland N/A heterozygote 0.0% (0 of 2)
Peripheral nervous system N/A heterozygote 0.0% (0 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Pituitary gland N/A heterozygote 0.0% (0 of 2)
Prostate gland N/A heterozygote 50% (1 of 2)
Skeletal muscle N/A heterozygote 0.0% (0 of 2)
Skin N/A heterozygote 0.0% (0 of 2)
Small intestine N/A heterozygote 0.0% (0 of 2)
Spinal cord N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach N/A heterozygote 0.0% (0 of 2)
Striatum N/A heterozygote 0.0% (0 of 2)
Testis N/A heterozygote 50% (1 of 2)
Thymus N/A heterozygote 100% (2 of 2)
Thyroid gland N/A heterozygote 0.0% (0 of 2)
Trachea N/A heterozygote 0.0% (0 of 2)
Trigeminal V nerve N/A heterozygote 0.0% (0 of 2)
Urinary bladder N/A heterozygote 0.0% (0 of 2)
Uterus N/A heterozygote 0.0% (0 of 2)
Vas deferens N/A heterozygote Not available
Vascular system N/A heterozygote 0.0% (0 of 2)
White adipose tissue N/A heterozygote 0.0% (0 of 2)
No Embryo expression data was found for this gene.

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

Anatomy Background staining in controls (WT)
adrenal gland 0.0%
aorta 0.0%
bone 0.0%
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cecum 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
esophagus 0.0%
eye 0.0%
gall bladder 0.0%
heart 0.0%
hippocampus 0.0%
hypothalamus 0.0%
kidney 0.0%
large intestine 0.0%
liver 0.0%
lower urinary tract 0.0%
lung 0.0%
lymph node 0.0%
mammary gland 0.0%
mesenteric lymph node
olfactory lobe 0.0%
oral epithelium 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
parathyroid gland 0.0%
peripheral nervous system 0.0%
peyers patch 0.0%
pituitary gland 0.0%
prostate gland 0.0%
skeletal muscle 0.0%
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
striatum 0.0%
testis 0.0%
thymus 0.0%
thyroid gland 0.0%
trachea 0.0%
trigeminal v nerve 0.0%
urinary bladder
uterus 0.0%
vas deferens Unavailable
vascular system 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.

Eye Morphology

VIP of left eye

12 Images

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Eye Morphology

VIP of right eye

12 Images

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X-ray

XRay Images Forepaw

9 Images

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X-ray

XRay Images Skull Lateral Orientation

9 Images

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X-ray

XRay Images Whole Body Dorso Ventral

9 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

9 Images

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Eye Morphology

VIP of right fundus

12 Images

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Eye Morphology

VIP of left fundus

12 Images

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X-ray

XRay Images Whole Body Lateral Orientation

9 Images

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FCS thumbnail FCS
Immunophenotyping

Panel A FCS file(s)

6 Images

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FCS thumbnail FCS
Immunophenotyping

Panel B FCS file(s)

6 Images

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Human diseases caused by Rhoh 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 Rhoh by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Epidermodysplasia Verruciformis, Susceptibility To, 4
Increased proportion of exhausted T cells OMIM:618307

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Pseudoxanthomatous Diffuse Cutaneous Mastocytosis
Cutaneous mastocytosis ORPHA:280794
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Agammaglobulinemia, Lymphopenia, Hypoplasia of the thymus OMIM:200900
Reticular Dysgenesis
Impaired T cell function, Lack of T cell function, Lymphopenia, Leukopenia, Congenital agranulocy... OMIM:267500
Combined Immunodeficiency, X-Linked
Decreased circulating IgG level, Abnormal T cell count, Decreased proportion of CD8-positive T ce... OMIM:312863
Immunodeficiency, partial combined, with absence of hla determinantsand beta-2-microglobulin from lymphocytes
Decreased circulating IgG level, T lymphocytopenia OMIM:242870
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Cutaneous anergy, Pancytopenia, Hypersplenism, Splenomegaly, Decreased helper T cell proportion OMIM:183350
Immunodeficiency 24
Decreased proportion of memory B cells, Reduced proportion of mucosal-associated invariant T cell... OMIM:615897
Immunodeficiency 79
Decreased proportion of CD4-positive T cells OMIM:619238
Wiskott-Aldrich Syndrome 2
Decreased proportion of CD8-positive T cells, Reduced natural killer cell activity, Defective T c... OMIM:614493
Immunodeficiency 52
Increased proportion of gamma-delta T cells, Lymphopenia, Decreased circulating IgA level, Decrea... OMIM:617514
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Decreased proportion of CD8-positive T cells, Increased circulating IgE level, Reduced delayed hy... OMIM:617241
Immunodeficiency 48
Panhypogammaglobulinemia, Abnormal B cell count, Splenomegaly, Impaired lymphocyte transformation... OMIM:269840
Neutrophil Immunodeficiency Syndrome
Abnormality of neutrophil physiology, Leukocytosis ORPHA:183707
Severe Combined Immunodeficiency, X-Linked
Decreased circulating IgG level, Decreased circulating IgA level, Agammaglobulinemia, Hypoplasia ... OMIM:300400
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
T lymphocytopenia ORPHA:169095
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased circulating IgG level, Decreased proportion of CD8-positive T cells, Decreased circulat... OMIM:611926
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Decreased specific pneumococcal antibody level, Splenomegaly, Decreased circulating IgG2 level, D... OMIM:615513
Immunodeficiency 15A
Decreased proportion of CD8-positive T cells, Decreased proportion of memory B cells, Decreased p... OMIM:618204
Immunodeficiency 105
Decreased circulating IgG level, Reduced natural killer cell count, Absence of lymph node germina... OMIM:619924
Immunodeficiency 18
Reduced natural killer cell count, Lymphopenia, Abnormal B cell count, Decreased proportion of CD... OMIM:615615
Okt4 Epitope Deficiency
Abnormal T cell morphology OMIM:613949
Immunodeficiency 103, Susceptibility To Fungal Infections
Increased circulating IgE level, Hypereosinophilia, Abnormal B cell count, Abnormal proportion of... OMIM:212050
Combined Cellular And Humoral Immune Defects With Granulomas
Decreased circulating IgG level, T lymphocytopenia, B lymphocytopenia OMIM:233650
Persistent Polyclonal B-Cell Lymphocytosis
Decreased circulating total IgM, Hepatomegaly, Lymphocytosis, Splenomegaly OMIM:606445
Lymphoproliferative Syndrome 3
Reduced natural killer cell count, Partial absence of specific antibody response to tetanus vacci... OMIM:618261
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Reduced natural killer cell count, Decreased lymphocyte proliferation in response to anti-CD3, Hy... OMIM:619313
Granulomatous disease with defect in neutrophil chemotaxis
Impaired neutrophil killing of staphylococci OMIM:233670
Immunodeficiency 86
Decreased circulating IgG level, Impaired oxidative burst, Increased circulating IgM level OMIM:619549
Immunodeficiency, Common Variable, 5
Abnormal T cell count, Abnormal B cell count, Chronic decreased circulating total IgG OMIM:613495
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Decreased lymphocyte proliferation in response to mitogen, Decreased proportion of CD8-positive T... ORPHA:169154
Immunodeficiency 112
Decreased circulating IgG level, Reduced natural killer cell count, Decreased circulating IgA lev... OMIM:620449
Agammaglobulinemia 7, Autosomal Recessive
Reduced natural killer cell count, Panhypogammaglobulinemia, Agammaglobulinemia, Neutropenia, Abn... OMIM:615214
Immunodeficiency 97 With Autoinflammation
Hemophagocytosis, Decreased proportion of CD8-positive T cells, Lymphopenia, Hepatosplenomegaly, ... OMIM:619802
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Absence of lymph node germinal center, Lack of T cell function, Increased circulating IgE level, ... ORPHA:277
Immunodeficiency 104
Hepatomegaly, T lymphocytopenia, Splenomegaly, Lymphadenopathy OMIM:608971
Cernunnos-Xlf Deficiency
Lymphopenia, Decreased circulating antibody level, Thrombocytopenia, B lymphocytopenia, Anemia, T... ORPHA:169079
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased specific anti-polysaccharide antibody level, Decreased CD4:CD8 ratio, Decreased proport... OMIM:300853
Immunodeficiency 8 With Lymphoproliferation
Lymphopenia, Complete or near-complete absence of specific antibody response to tetanus vaccine, ... OMIM:615401
Indolent Systemic Mastocytosis
Mastocytosis, Increased proportion of CD25+ mast cells, Skin rash, Splenomegaly, Maculopapular ex... ORPHA:98848
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4
Agammaglobulinemia, Abnormal B cell morphology, Decreased circulating antibody level OMIM:616911
Caspase 8 Deficiency
Decreased circulating IgG level, Decreased CD4:CD8 ratio, Decreased circulating IgA level, Spleno... OMIM:607271
Immunodeficiency 76
Lymphopenia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, T lymphocytopenia OMIM:619164
Immunodeficiency 19
Abnormal B cell morphology, T lymphocytopenia, Abnormal natural killer cell morphology OMIM:615617
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Abnormally low T cell receptor excision circle level, Decreased circulating IgG level, Cervical l... OMIM:618987
Immunodeficiency 116
Absence of CD8-positive T cells OMIM:608957
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
T lymphocytopenia DECIPHER:16
Immunodeficiency 15B
Reduced natural killer cell count, Decreased lymphocyte proliferation in response to mitogen, Aga... OMIM:615592
Immunodeficiency 50
Lymphopenia, Decreased circulating antibody level, Neutropenia OMIM:300988
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Decreased proportion of CD4+CD25+ regulatory T cells, Lymphopenia, Decreased circulating antibody... OMIM:619846
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
Abnormally low T cell receptor excision circle level, T lymphocytopenia OMIM:618806
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
T lymphocytopenia, Decreased helper T cell proportion OMIM:601705
Ras-Associated Autoimmune Leukoproliferative Disorder
Pancytopenia, Splenomegaly, Follicular hyperplasia, Increased circulating antibody level, Hepatom... OMIM:614470
Immunodeficiency 11A
Decreased proportion of CD4+CD25+ regulatory T cells, Agammaglobulinemia, Reduced antigen-specifi... OMIM:615206
Immunodeficiency 115 With Autoinflammation
Decreased circulating IgG level, Intestinal lymphangiectasia, Splenomegaly, Partial absence of sp... OMIM:620632
Immunodeficiency 20
Reduced natural killer cell activity, Reduced natural killer cell count OMIM:615707
Immunodeficiency, Common Variable, 4
Decreased circulating total IgM, Decreased circulating IgG level, Abnormal T cell count, Complete... OMIM:613494
Autoimmune Disease, Multisystem, Infantile-Onset, 3
Decreased specific pneumococcal antibody level, Abnormal T cell count, Type I diabetes mellitus, ... OMIM:620430
B-Cell Expansion With Nfkb And T-Cell Anergy
Decreased specific antibody response to polysaccharide vaccine, Decreased circulating IgA level, ... OMIM:616452
Mastocytosis, Cutaneous
Cutaneous mastocytosis OMIM:154800
Specific Granule Deficiency 1
Recurrent pneumonia, Increased neutrophil mitochondria, Increased neutrophil ribosomes, Recurrent... OMIM:245480
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Decreased circulating IgG level, Abnormal T cell count, Decreased lymphocyte proliferation in res... ORPHA:331206
Immunodeficiency 9
Decreased circulating IgG level, Lymphopenia, Decreased circulating IgA level, Hypoplasia of the ... OMIM:612782
T-Cell Immunodeficiency With Thymic Aplasia
Abnormally low T cell receptor excision circle level, Reduced delayed hypersensitivity, Lymphopen... OMIM:242700
Immunodeficiency 64 With Lymphoproliferation
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased circulating IgG level... OMIM:618534
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Increased circulating IgE level, Hepatosplenomegaly, Lymphadenopathy, Increased proportion of mem... OMIM:618982
Combined Immunodeficiency Due To Zap70 Deficiency
Decreased lymphocyte proliferation in response to mitogen, Lymphadenitis, Abnormal lymph node mor... ORPHA:911
Immunodeficiency 102
Decreased circulating IgG level, Reduced natural killer cell count, Increased proportion of CD8-p... OMIM:301082
Immunodeficiency, Common Variable, 1
Decreased circulating IgG level, Abnormal T cell count, Impaired T cell function, Decreased circu... OMIM:607594
Immunodeficiency 57 With Autoinflammation
Reduced natural killer cell count, Partial absence of specific antibody response to tetanus vacci... OMIM:618108
Immunodeficiency, Common Variable, 3
Abnormal T cell count, Chronic decreased circulating total IgG, Decreased circulating IgA level, ... OMIM:613493
Mast Cell Sarcoma
Mastocytosis, Splenomegaly ORPHA:66661
Immunodeficiency, Common Variable, 2
Decreased circulating IgG level, Abnormal T cell count, Impaired T cell function, Decreased circu... OMIM:240500
Aicardi-Goutieres Syndrome 2
Lymphocytosis OMIM:610181
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Lymphopenia, Increased circulating antibody level, Autoimmune hemolytic anemia, Plasmacytosis OMIM:247800
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Cutaneous anergy, Absent natural killer cells, Decreased lymphocyte proliferation in response to ... OMIM:600802
Bullous Diffuse Cutaneous Mastocytosis
Cutaneous mastocytosis, Erythroderma ORPHA:280785
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Panhypogammaglobulinemia, T lymphocytopenia, B lymphocytopenia OMIM:601457
Immunodeficiency 67
Abnormal T cell count, Increased circulating IgE level, Transient neutropenia, Abnormal B cell co... OMIM:607676
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Abnormally low T cell receptor excision circle level, Decreased circulating IgG level, Lymphadeni... OMIM:618986
Lymphoma, Hodgkin, Classic
Polyclonal elevation of IgM, Impaired lymphocyte transformation with phytohemagglutinin OMIM:236000
Immunodeficiency 95
Lymphopenia, Decreased circulating IgG3 level, Increased circulating IgG3 level OMIM:619773
Griscelli Syndrome, Type 2
Reduced delayed hypersensitivity, Hepatosplenomegaly, Hemophagocytosis OMIM:607624
Immunodeficiency 85 And Autoimmunity
Decreased proportion of memory B cells, Reduced natural killer cell count, Decreased circulating ... OMIM:619510
Autoimmune Lymphoproliferative Syndrome
Reduced delayed hypersensitivity, Chronic noninfectious lymphadenopathy, Autoimmune hemolytic ane... OMIM:601859
Immunodeficiency 17
Abnormal B cell morphology, Decreased proportion of CD8-positive T cells, Chronic decreased circu... OMIM:615607
Immunodeficiency 25
Increased circulating IgE level, Complete or near-complete absence of specific antibody response ... OMIM:610163
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Abnormally low T cell receptor excision circle level, Panhypogammaglobulinemia, Increased circula... OMIM:602450
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Decreased specific pneumococcal antibody level, Impaired lymphocyte transformation with phytohema... OMIM:617006
Lymphoproliferative Syndrome, X-Linked, 1
Decreased circulating IgG level, Abnormal T cell count, Aplastic anemia, Hemophagocytosis, Pancyt... OMIM:308240
Immunodeficiency 68
Lymphadenitis, Abscess, B lymphocytopenia, Abnormal natural killer cell count, T lymphocytopenia OMIM:612260
Immunodeficiency 44
Decreased circulating total IgM, Lymphopenia, Decreased circulating IgA level, Abnormal circulati... OMIM:616636
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Abnormally low T cell receptor excision circle level, Decreased circulating IgG level, Reduced na... ORPHA:276
Immunodeficiency, Common Variable, 11
Increased circulating IgE level, Decreased circulating IgG level, Abnormal T cell count, Decrease... OMIM:615767
Agammaglobulinemia 8B, Autosomal Recessive
Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine... OMIM:619824
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Splenomegaly, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, ... ORPHA:231154
Immunodeficiency 70
Decreased circulating total IgG, Decreased proportion of CD4-positive helper T cells, B lymphocyt... OMIM:618969
Immunodeficiency 13
Lymphopenia, Decreased CD4:CD8 ratio, Decreased proportion of CD4-positive helper T cells, B lymp... OMIM:615518
Immunodeficiency 42
Hypoplasia of the thymus, Splenomegaly OMIM:616622
Immunodeficiency 81
Abnormally low T cell receptor excision circle level, Autoimmune hemolytic anemia, Abscess, Decre... OMIM:619374
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hepatitis, Lymphopenia, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Autoimmune th... ORPHA:444463
Combined Immunodeficiency Due To Dock8 Deficiency
Increased circulating IgE level, T lymphocytopenia, B lymphocytopenia ORPHA:217390
Transcobalamin Deficiency
Decreased circulating IgG level, Lymphopenia, Pancytopenia, Decreased circulating IgA level, Thro... ORPHA:859
Immunoglobulin A Deficiency 2
Abnormal lymphocyte morphology, Decreased circulating IgA level OMIM:609529
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Lymphopenia, Leukocytosis, Autoimmune hemolytic anemia, Interface hepatitis, Agammaglobulinemia, ... OMIM:243150
Immunodeficiency 109 With Lymphoproliferation
Decreased circulating IgG level, Decreased specific pneumococcal antibody level, Decreased lympho... OMIM:620282
Omenn Syndrome
Splenomegaly, Hypoplasia of the thymus, Eosinophilia, Anemia, Hepatomegaly, Lymphadenopathy, Thro... OMIM:603554
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Decreased CD4:CD8 ratio, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Hepatomegaly... OMIM:618495
Agammaglobulinemia 8A, Autosomal Dominant
Agammaglobulinemia, B lymphocytopenia OMIM:616941
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Leukemia, Monoclonal immunoglobulin M proteinemia, Polyclonal elevation of IgM, Impaired lymphocy... OMIM:153600
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Absen... ORPHA:35078
Focal Facial Dermal Dysplasia Type Iv
Abnormal mast cell morphology ORPHA:398189
Autoinflammation With Infantile Enterocolitis
Reduced natural killer cell count, Reduced natural killer cell activity, Pancytopenia, Splenomega... OMIM:616050
Immunodeficiency 43
Decreased circulating IgG level, Reduced natural killer cell count, Decreased specific antibody r... OMIM:241600
Autoimmune Lymphoproliferative Syndrome, Type Iia
Reduced delayed hypersensitivity, Hepatomegaly, Chronic noninfectious lymphadenopathy, Autoimmune... OMIM:603909
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Decreased circulating IgG level, Increased circulating IgE level, Hypopituitarism, Decreased circ... ORPHA:98813
Immunodeficiency 37
Decreased proportion of central memory CD4-positive, alpha-beta T cells, Decreased circulating an... OMIM:616098
Lymphangiectasia, Intestinal
Decreased circulating IgG level, Lymphopenia, Intestinal lymphangiectasia OMIM:152800
Ataxia-Telangiectasia
Decreased circulating IgG level, Defective B cell differentiation, Lymphopenia, Decreased circula... OMIM:208900
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Decreased proportion of CD4+CD25+ regulatory T cells, Type I diabetes mellitus, Decreased specifi... OMIM:606367
Aggressive Systemic Mastocytosis
Hepatosplenomegaly, Increased proportion of CD25+ mast cells, Pancytopenia, Hypersplenism, Leukoc... ORPHA:98850
Epidermodysplasia Verruciformis, Susceptibility To, 5
Lymphopenia, T lymphocytopenia OMIM:618309
Lymphoproliferative Syndrome 1
Decreased circulating IgG level, Hemophagocytosis, Pancytopenia, Leukopenia, Decreased proportion... OMIM:613011
Agammaglobulinemia 3, Autosomal Recessive
Agammaglobulinemia, Absent circulating B cells, Neutropenia, Abnormal T cell morphology, Absent i... OMIM:613501
Immunodeficiency By Defective Expression Of Mhc Class Ii
Decreased lymphocyte proliferation in response to mitogen, Abnormal CD4:CD8 ratio, Panhypogammagl... ORPHA:572
Immunodeficiency, Common Variable, 6
Decreased specific pneumococcal antibody level, Abnormal T cell count, Chronic decreased circulat... OMIM:613496
Immunodeficiency 40
Eosinophilic granuloma, Reduced antigen-specific T cell proliferation, Thrombocytopenia, Hepatome... OMIM:616433
Immunodeficiency 62
Decreased circulating IgG level, Decreased proportion of memory B cells, Reduced isohemagglutinin... OMIM:618459
Burkitt Lymphoma
Abnormal lymph node morphology, Abnormality of the ovary, Abnormality of the spleen, Abnormality ... ORPHA:543
Immunodeficiency 54
Reduced natural killer cell count, Adrenal insufficiency, Splenomegaly, Adrenocorticotropic hormo... OMIM:609981
Immunodeficiency 36 With Lymphoproliferation
Decreased circulating IgG level, Lymphopenia, Decreased circulating IgA level, Splenomegaly, Chro... OMIM:616005
Immunodeficiency 21
Reduced natural killer cell count, Aplastic anemia, Lymphopenia, Anemia, Neutropenia, B lymphocyt... OMIM:614172
Mu-Heavy Chain Disease
Abnormal B cell count, Splenomegaly, Increased circulating antibody level, Hepatomegaly, Lymphade... ORPHA:100024
Immunodeficiency With Hyper-Igm, Type 3
Decreased circulating IgG level, Impaired memory B cell generation, Absence of lymph node germina... OMIM:606843
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Decreased proportion of memory B cells, Absence of lymph node germinal center, Panhypogammaglobul... ORPHA:79124
Agammaglobulinemia 2, Autosomal Recessive
Decreased circulating IgA level, Agammaglobulinemia, Absent circulating B cells, Abnormal T cell ... OMIM:613500
Mirage Syndrome
Lymphopenia, Leukopenia, Decreased testicular size, Adrenal insufficiency, Cryptorchidism, Adrena... OMIM:617053
Neutropenia, Severe Congenital, 2, Autosomal Dominant
B lymphocytopenia, Neutropenia, Monocytosis OMIM:613107
Immunodeficiency 92
Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine... OMIM:619652
Congenital Disorder Of Glycosylation, Type Iir
Micronodular cirrhosis, Hepatic steatosis, Decreased proportion of CD4-positive T cells, Hepatome... OMIM:301045
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Decreased circulating IgG level, Reduced natural killer cell count, Cutaneous abscess, Increased ... OMIM:619752
Agammaglobulinemia 10, Autosomal Dominant
Decreased circulating IgG level, Type I diabetes mellitus, Decreased circulating IgA level, Trans... OMIM:619707
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Hepat... ORPHA:169160
Progressive Multifocal Leukoencephalopathy
Decreased proportion of CD8-positive T cells, Abnormal proportion of CD4-positive T cells ORPHA:217260
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Splenic infarction, Persistence of hemoglobin F, Increased red cell sickling tendency, Reticulocy... ORPHA:251380
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Decreased circulating IgG level, Lymphopenia, Leukopenia, Splenomegaly, Hepatomegaly, Decreased c... OMIM:620210
Selective Igm Deficiency
Decreased proportion of transitional B cells, Lymphadenitis, Cutaneous abscess, Decreased proport... ORPHA:331235
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Reduced natural killer cell count, T lymphocytopenia, Decreased circulating IgA level, Increased ... OMIM:242860
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6
Abnormally low T cell receptor excision circle level, Bone marrow hypocellularity, Lymphopenia, P... OMIM:619767
Wiskott-Aldrich Syndrome
Decreased mean platelet volume, Decreased specific anti-polysaccharide antibody level, Decreased ... OMIM:301000
Cutaneous Mastocytosis, Conductive Hearing Loss And Microtia
Cutaneous mastocytosis OMIM:248910
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, Splenomegaly, Abscess, Lymphadenopathy, Neutropenia, B lymphocytopenia, I... OMIM:150550
Asplenia, Isolated Congenital
Howell-Jolly bodies, Asplenia, Thrombocytosis OMIM:271400
T-Cell Immunodeficiency With Thymic Aplasia
Decreased lymphocyte proliferation in response to mitogen, Decreased proportion of naive T cells,... ORPHA:83471
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Adrenal cortical sclerosis, Increased circulating IgE level, Lymphopenia, Decreased circulating I... OMIM:102700
Obesity Due To Congenital Leptin Deficiency
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte... ORPHA:66628
Immunodeficiency 96
Decreased circulating IgG level, Increased proportion of gamma-delta T cells, Increased mean corp... OMIM:619774
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Lymphopenia, Decreased circulating antibody level ORPHA:1116
Acute Panmyelosis With Myelofibrosis
Bone marrow hypocellularity, Acute myelomonocytic leukemia, Pancytopenia, Splenomegaly, Acute mye... ORPHA:86843
Acquired Partial Lipodystrophy
Lymphocytosis, Hepatic steatosis ORPHA:79087
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Abnormally low T cell receptor excision circle level, Reduction of neutrophil motility, Rectal ab... OMIM:608203
Lissencephaly Syndrome, Norman-Roberts Type
Hypoplastic spleen ORPHA:89844
Obesity Due To Leptin Receptor Gene Deficiency
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte... ORPHA:179494
Agammaglobulinemia 6, Autosomal Recessive
Decreased circulating IgG level, Decreased circulating IgA level, Agammaglobulinemia, B lymphocyt... OMIM:612692
Immunodeficiency 14B, Autosomal Recessive
Neutrophilia, Decreased circulating IgG level, Decreased circulating IgA level, Thrombocytosis, L... OMIM:619281
Stormorken Syndrome
Howell-Jolly bodies, Thrombocytopenia, Anemia, Asplenia, Hypoplastic spleen OMIM:185070
Proteasome-Associated Autoinflammatory Syndrome 2
Decreased proportion of memory B cells, Abnormal circulating IgM level, Increased circulating IgA... OMIM:618048
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Chronic myelomonocytic leukemia, Leukocytosis, Splenomegaly, Chronic lymphatic... ORPHA:98849
Immunodeficiency, Common Variable, 13
Decreased circulating antibody level, Pancytopenia, Acute lymphoblastic leukemia, B lymphocytopenia OMIM:616873
Aregenerative Anemia
Bone marrow hypocellularity, Pancytopenia, Decreased proportion of CD4-positive helper T cells, A... ORPHA:101096
Immunodeficiency 114, Folate-Responsive
Decreased circulating IgG level, Increased circulating IgE level, Lymphopenia, Splenomegaly, Mega... OMIM:620603
Immunodeficiency 26 With Or Without Neurologic Abnormalities
T lymphocytopenia, Abnormal natural killer cell morphology, B lymphocytopenia OMIM:615966
Neutropenia, Severe Congenital, X-Linked
Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia OMIM:300299
Pgm3-Cdg
Bone marrow hypocellularity, Reduced natural killer cell count, Abnormal CD4:CD8 ratio, Cutaneous... ORPHA:443811
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Reduced natural killer cell count, Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Splenomega... ORPHA:158057
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Decreased circulating IgG level, Lymphopenia, Decreased circulating IgA level, Decreased circulat... OMIM:616100
Adult Idiopathic Neutropenia
Lymphopenia, Neutropenia, Monocytosis, Monocytopenia, Increased circulating IgM level ORPHA:2688
Immunodeficiency 49
Abnormally low T cell receptor excision circle level, Lymphopenia, Eosinophilia, Impaired lymphoc... OMIM:617237
Immunodeficiency With Hyper-Igm, Type 1
Increased circulating IgA level, Cirrhosis, Neutropenia, Hepatomegaly, Impaired Ig class switch r... OMIM:308230
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Lymphopenia, Hepatosplenomegaly, Leukopenia, Splenomegaly, Cryptorchidism, Erythroid hypoplasia, ... OMIM:612541
Macrophage Activation Syndrome
Hemophagocytosis, Hepatitis, Splenomegaly, Hepatomegaly, Lymphadenopathy, Neutropenia, Thrombocyt... ORPHA:158061
Syndromic Diarrhea
Hepatic fibrosis, Panhypogammaglobulinemia, Lymphopenia, Abnormality of the liver, Splenomegaly, ... ORPHA:84064
Immunodeficiency 32B
Pneumonia, Neutrophilia, Impaired oxidative burst, Abnormal circulating IgG level, Splenomegaly, ... OMIM:226990
Congenital Disorder Of Glycosylation, Type Iic
Pneumonia, Reduction of neutrophil motility, Periodontitis, Recurrent otitis media, Neutrophilia OMIM:266265
Stormorken-Sjaastad-Langslet Syndrome
Anemia, Asplenia ORPHA:3204
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Hypersegmentation of neutrophil nuclei, Lymphopenia, Pancytopenia, Macrocytic anemia, Anemia of i... OMIM:617780
Agammaglobulinemia, X-Linked
Decreased circulating IgG level, Hepatocellular carcinoma, Decreased circulating IgA level, Lymph... OMIM:300755
Bone Marrow Failure Syndrome 6
Bone marrow hypocellularity, Increased mean corpuscular volume, Persistence of hemoglobin F, Lymp... OMIM:618849
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Decre... ORPHA:508533
Hemophagocytic Syndrome Associated With An Infection
Hemophagocytosis, Pancytopenia, Abnormal T cell subset distribution, Splenomegaly, Hepatomegaly, ... ORPHA:158048
Dyskeratosis Congenita, Autosomal Recessive 8
Reduced natural killer cell count, Bone marrow hypocellularity, Pancytopenia, B lymphocytopenia OMIM:620133
Cerebroretinal Microangiopathy With Calcifications And Cysts 2
Abnormally low T cell receptor excision circle level, Bone marrow hypocellularity, Hepatic fibros... OMIM:617341
Autoimmune Polyendocrinopathy Type 4
Non-caseating epithelioid cell granulomatosis, Aplasia/Hypoplasia of the spleen, Thymoma, Type I ... ORPHA:227990
Acute Monoblastic/Monocytic Leukemia
Hypochromic anemia, Central hypothyroidism, Acute monocytic leukemia, Cervical lymphadenopathy, L... ORPHA:514
Purine Nucleoside Phosphorylase Deficiency
Decreased lymphocyte proliferation in response to mitogen, Impaired T cell function, Lymphopenia,... OMIM:613179
Immunodeficiency 22
Decreased circulating IgG level, Decreased circulating IgA level, Decreased proportion of CD4-pos... OMIM:615758
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Leukocytosis, Increased proportion of CD4-positive T cells, Increased circulating IgA level, Lymp... OMIM:617099
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Reduced natural killer cell count, Cutaneous abscess, Increased circulating IgE level, Decreased ... OMIM:243700
Immunodeficiency 98 With Autoinflammation, X-Linked
Bone marrow hypocellularity, Type I diabetes mellitus, Decreased circulating IgG level, Hemophago... OMIM:301078
Gracile Bone Dysplasia
Asplenia, Hypoplastic spleen OMIM:602361
Autoimmune Polyendocrinopathy Type 3
Non-caseating epithelioid cell granulomatosis, Aplasia/Hypoplasia of the spleen, Thymoma, Graves ... ORPHA:227982
Hermansky-Pudlak Syndrome 2
Reduced natural killer cell count, Enlarged platelet dense granules, Reduced natural killer cell ... OMIM:608233
Immunodeficiency 108 With Autoinflammation
Recurrent aphthous stomatitis, Hyposegmentation of neutrophil nuclei, Impaired neutrophil chemotaxis OMIM:260570
Lymphedema, Primary, With Myelodysplasia
Leukemia, Pancytopenia, Acute myeloid leukemia, Decreased CD4:CD8 ratio OMIM:614038
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Abnormality of T cell physiology OMIM:308220
Epidermodysplasia Verruciformis, Susceptibility To, 4
Increased proportion of exhausted T cells OMIM:618307
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Acute pancreatitis, Recurrent tonsillitis, Granuloma, Lymphadenitis, Lymphopenia, Hepatosplenomeg... OMIM:618935
Chronic Beryllium Disease
Mediastinal lymphadenopathy, Abnormal proportion of CD4-positive T cells ORPHA:133
Wiskott-Aldrich Syndrome
Abnormal eosinophil morphology, Acute leukemia, Microcytic anemia, Lymphopenia, Chronic leukemia,... ORPHA:906
Autoimmune Lymphoproliferative Syndrome
Increased circulating IgE level, Lymphopenia, Hypersplenism, Decreased proportion of CD4-positive... ORPHA:3261
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Hashimoto thyroiditis, Decreased proportion of CD3-positive T cells, Decreased circulating IgA le... ORPHA:275
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Lymphopenia, Intestinal lymphangiectasia OMIM:207731
Heme Oxygenase 1 Deficiency
Cervical lymphadenopathy, Lymphadenopathy, Coombs-positive hemolytic anemia, Thrombocytosis, Hepa... OMIM:614034
Ciliary Dyskinesia, Primary, 53
Abdominal situs inversus, Hypoplastic spleen, Polysplenia OMIM:620642
Primary Intestinal Lymphangiectasia
Decreased circulating IgG level, Peritoneal effusion, Intestinal lymphangiectasia, Lymphopenia, D... ORPHA:90362
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Asplenia OMIM:618948
Diffuse Cutaneous Mastocytosis
Abnormality of the spleen, Abnormality of the liver, Lymphocytosis, Lymphadenopathy, Hepatomegaly... ORPHA:79456
Autoinflammatory Disease, Systemic, X-Linked
Decreased circulating IgG level, Hepatosplenomegaly, Complete or near-complete absence of specifi... OMIM:301081
Pearson Syndrome
Bone marrow hypocellularity, Decreased response to growth hormone stimulation test, Exocrine panc... ORPHA:699
Immunodeficiency 55
Lymphopenia, Absent natural killer cells, Lymphadenopathy, Neutropenia OMIM:617827
Chédiak-Higashi Syndrome
Abnormality of neutrophil physiology, Periodontitis, Hemophagocytosis, Abnormal natural killer ce... ORPHA:167
Laterality Defects, Autosomal Dominant
Asplenia OMIM:601086
Hypoglossia With Situs Inversus
Asplenia, Polysplenia OMIM:612776
Necrobiosis Lipoidica
Abnormality of neutrophil physiology, Inflammatory abnormality of the skin, Granuloma ORPHA:542592
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Reduced natural killer cell count, Decreased lymphocyte proliferation in response to mitogen, Dec... ORPHA:221139
Acitretin/Etretinate Embryopathy
Hypoplasia of the thymus ORPHA:40366
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Spontaneous hemolytic crises, Cholecystitis, Splenomegaly, Nonspherocytic hemolytic anemia, Impai... OMIM:613470
Proteasome-Associated Autoinflammatory Syndrome 3
Lymphopenia, Splenomegaly, Increased circulating antibody level, Hepatomegaly, Lymphadenopathy, T... OMIM:617591
Peroxisome Biogenesis Disorder 2A (Zellweger)
Cryptorchidism, Hypoplasia of the thymus, Hepatomegaly, Jaundice, Intrahepatic biliary dysgenesis OMIM:214110
Vici Syndrome
Cutaneous anergy, Decreased circulating IgG level, Lymphopenia, Leukopenia, Decreased proportion ... OMIM:242840
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Abnormal B cell morphology, Decreased response to growth hormone stimulation test, Hashimoto thyr... OMIM:618223
Mhc Class Ii Deficiency 1
Cutaneous anergy, Panhypogammaglobulinemia, Biliary tract abnormality, Agammaglobulinemia, Neutro... OMIM:209920
Hereditary Orotic Aciduria
Anemia, Patent ductus arteriosus, Splenomegaly, Impaired T cell function ORPHA:30
Hennekam-Beemer Syndrome
Pneumonia, Mastocytosis ORPHA:2135
Good Syndrome
Thymoma, Aplasia/Hypoplasia of the thymus, Abnormal leukocyte morphology, Thrombocytopenia, Anemi... ORPHA:169105
Microphthalmia, Syndromic 9
Patent ductus arteriosus, Multilobulated spleen, Hypoplastic spleen, Cryptorchidism OMIM:601186
Immunodeficiency 82 With Systemic Inflammation
Reduced natural killer cell count, Decreased lymphocyte proliferation in response to mitogen, Dec... OMIM:619381
Common Variable Immunodeficiency
Lymphopenia, Abnormality of the liver, Decreased circulating antibody level, Splenomegaly, Lympha... ORPHA:1572
Isolated Anencephaly
Adrenal hypoplasia, Thymus hyperplasia, Maternal diabetes ORPHA:563609
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Abnormal T cell count, Panhypogammaglobulinemia, Decreased response to growth hormone stimulation... OMIM:307200
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Hypochromic anemia, Increased circulating IgE level, Leukocytosis, Decreased T cell activation, P... OMIM:618213
Schimke Immuno-Osseous Dysplasia
Bone marrow hypocellularity, Abnormal proportion of naive CD4 T cells, Impaired T cell function, ... ORPHA:1830
Autoinflammatory Disease, Systemic, With Vasculitis
Hepatic fibrosis, Parotitis, Cholestasis, Hepatosplenomegaly, Decreased circulating IgA level, Le... OMIM:620376
Spondyloenchondrodysplasia With Immune Dysregulation
Lymphopenia, T lymphocytopenia, Hypothyroidism, Lymphadenopathy, Neutropenia, Autoimmune thromboc... OMIM:607944
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Anemia, Lymphopenia, Agammaglobulinemia, Abnormality of the pancreas ORPHA:935
Congenital Disorder Of Glycosylation, Type Iil
Decreased specific anti-polysaccharide antibody level, Impaired T cell function, Cholestasis, Pan... OMIM:614576
Progeria-Short Stature-Pigmented Nevi Syndrome
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Microcytic anemia, Decreased seru... ORPHA:2959
Drug Reaction With Eosinophilia And Systemic Symptoms
Hepatitis, Eosinophilia, Lymphocytosis, Lymphadenopathy, Thyroiditis ORPHA:139402
Combined Immunodeficiency-Enteropathy Spectrum
Peritoneal abscess, Type I diabetes mellitus, Hepatitis, Autoimmune hemolytic anemia, Hashimoto t... ORPHA:436252
Lethal Congenital Contracture Syndrome 10
Hypoplasia of the thymus OMIM:617022
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Decreased proportion of memory B cells, Reduced natural killer cell count, Perianal abscess, Iron... OMIM:301074
Orotic Aciduria
Folate-unresponsive megaloblastic anemia, Impaired T cell function, Anisocytosis, Hypochromia, Po... OMIM:258900
Onychotrichodysplasia And Neutropenia
Lymphocytosis, Chronic neutropenia, Neutropenia OMIM:258360
Nijmegen Breakage Syndrome
Autoimmune hemolytic anemia, Dysgammaglobulinemia, Thrombocytopenia, B lymphocytopenia, T lymphoc... OMIM:251260
Autoimmune Polyendocrine Syndrome, Type Ii
Thymoma, Hepatitis, Exocrine pancreatic insufficiency, Primary adrenal insufficiency, Type II dia... OMIM:269200
Digeorge Syndrome
Cholelithiasis, Parathyroid hypoplasia, Impaired T cell function, Splenomegaly, Ovarian cyst, Hep... OMIM:188400
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome
Aplasia of the thymus ORPHA:3004
Nk-Cell Enteropathy
Increased T cell count ORPHA:263665
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Impaired T cell function, Hypogonadism, Decreased testicular size, Decreased serum testosterone c... OMIM:201100
Wolcott-Rallison Syndrome
Neonatal insulin-dependent diabetes mellitus, Central hypothyroidism, Exocrine pancreatic insuffi... ORPHA:1667
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Discoid lupus rash, Recurrent pneumonia, Lymphadenitis, Eczematoid dermatitis, Osteomyelitis, Imp... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Discoid lupus rash, Recurrent pneumonia, Lymphadenitis, Eczematoid dermatitis, Osteomyelitis, Imp... OMIM:233710
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Decreased mean platelet volume, Cervical lymphadenopathy, Lymphocytosis, Lymphadenopathy, Thrombo... OMIM:617718
Renal-Hepatic-Pancreatic Dysplasia 1
Malformation of the hepatic ductal plate, Hepatic fibrosis, Biliary cirrhosis, Polysplenia, Chole... OMIM:208540
Renal-Hepatic-Pancreatic Dysplasia 2
Malformation of the hepatic ductal plate, Hepatic fibrosis, Cholestasis, Hepatic cysts, Hepatomeg... OMIM:615415
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Female hypogonadism, Male hypogonadism, Cholelithiasis, Type I diabetes mellitus, Adrenal insuffi... OMIM:240300
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Discoid lupus rash, Recurrent pneumonia, Lymphadenitis, Eczematoid dermatitis, Osteomyelitis, Imp... OMIM:233690
Bloom Syndrome
Decreased circulating IgG level, Recurrent tonsillitis, Decreased circulating IgA level, Decrease... ORPHA:125
22Q11.2 Deletion Syndrome
Cholelithiasis, Impaired T cell function, Splenomegaly, Cryptorchidism, Hypoplasia of the thymus,... ORPHA:567
Cutis Laxa, Autosomal Recessive, Type Ic
Accessory spleen, Hypoplasia of the thymus, Adrenal hypoplasia OMIM:613177
Treacher-Collins Syndrome
Cryptorchidism, Hypoplasia of the thymus, Abnormality of the adrenal glands, Thyroid hypoplasia, ... ORPHA:861
Fraser Syndrome 2
Hypoplasia of the thymus OMIM:617666
Chediak-Higashi Syndrome
Periodontitis, Hemophagocytosis, Leukopenia, Giant neutrophil granules, Splenomegaly, Abnormal de... OMIM:214500
Cardiofacioneurodevelopmental Syndrome
Asplenia, Cryptorchidism, Abdominal situs inversus OMIM:619123
Eec Syndrome
Decreased response to growth hormone stimulation test, Hypoplasia of the thymus, Anterior hypopit... ORPHA:1896
Primary Ciliary Dyskinesia
Asplenia, Polysplenia ORPHA:244
Proteus-Like Syndrome
Abnormality of the parathyroid gland, Thymus hyperplasia, Splenomegaly, Polycystic ovaries ORPHA:2969
Kikuchi-Fujimoto Disease
Abnormal lymph node morphology, Cervical lymphadenopathy, Leukopenia, Enlargement of parotid glan... ORPHA:50918
Ciliary Dyskinesia, Primary, 1
Asplenia OMIM:244400
Granulomatous Disease, Chronic, X-Linked
Discoid lupus rash, Recurrent pneumonia, Lymphadenitis, Eczematoid dermatitis, Granuloma, Osteomy... OMIM:306400
Heterotaxy, Visceral, 2, Autosomal
Asplenia, Abdominal situs inversus, Polysplenia OMIM:605376
Congenital Alveolar Capillary Dysplasia
Asplenia, Absent gallbladder, Patent ductus arteriosus, Annular pancreas ORPHA:210122
Sweeney-Cox Syndrome
Asplenia, Patent ductus arteriosus, Bilateral cryptorchidism OMIM:617746
Right Atrial Isomerism
Asplenia, Abdominal situs ambiguus, Polysplenia OMIM:208530
Primary Sjögren Syndrome
Normocytic anemia, Thyroiditis, Biliary cirrhosis, Parotitis, Chronic active hepatitis, Lymphopen... ORPHA:289390
Sarcoidosis, Susceptibility To, 1
Enlarged lacrimal glands, Pancytopenia, Abnormality of T cell physiology, Splenomegaly, Increased... OMIM:181000
Mosaic Trisomy 9
Asplenia, Patent ductus arteriosus, Cryptorchidism, Abnormal liver lobulation ORPHA:99776
Monosomy 22
Hepatosplenomegaly, Aplasia of the thymus, Hypochromic microcytic anemia ORPHA:96123
Myopathy, Epilepsy, And Progressive Cerebral Atrophy
Thymus hyperplasia OMIM:619036
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Asplenia, Patent ductus arteriosus OMIM:619657
Microsporidiosis
Lymphadenitis, Brain abscess, Abnormality of the parathyroid gland, Hepatitis, Abnormality of the... ORPHA:2552
Leukocyte Adhesion Deficiency
Lymphocytic interstitial pneumonia, Impaired neutrophil chemotaxis, Acute myeloid leukemia, Glome... ORPHA:2968
Truncus Arteriosus
Hypoplasia of the thymus, Patent ductus arteriosus, Adrenocortical abnormality ORPHA:3384
Feingold Syndrome 1
Accessory spleen, Annular pancreas, Polysplenia, Asplenia, Patent ductus arteriosus OMIM:164280
Wiedemann-Rautenstrauch Syndrome
Hypoplasia of the thymus, Cryptorchidism, Increased serum testosterone level OMIM:264090
Sarcoidosis
Enlarged lacrimal glands, Abnormal lymph node morphology, Parotitis, Leukopenia, Enlargement of p... ORPHA:797
Meckel Syndrome
Accessory spleen, Cryptorchidism, Congenital hepatic fibrosis, Pancreatic fibrosis, Asplenia, Pan... ORPHA:564
Heterotaxy, Visceral, 1, X-Linked
Abdominal situs inversus, Polysplenia, Biliary atresia, Hepatomegaly, Asplenia, Patent ductus art... OMIM:306955
Meckel Syndrome, Type 1
Accessory spleen, Malformation of the hepatic ductal plate, Splenomegaly, Cryptorchidism, Patent ... OMIM:249000
Heterotaxy, Visceral, 5, Autosomal
Asplenia, Abdominal situs ambiguus, Patent ductus arteriosus, Abdominal situs inversus OMIM:270100
Tetraamelia Syndrome 1
Asplenia, Adrenal gland agenesis OMIM:273395
Pseudoaminopterin Syndrome
Asplenia, Cryptorchidism ORPHA:221120
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Absent nipple, Congenital hypothyroidism, Aplasia of the thymus, Hypothyroidism, Hypoplastic nipp... OMIM:620186
Liver Disease, Severe Congenital
Portal inflammation, Hepatic steatosis, Abnormal hepatic echogenicity, Hepatomegaly, Jaundice, Pa... OMIM:619991
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Asplenia, Annular pancreas, Patent ductus arteriosus, Pulmonary lymphangiectasia OMIM:265380
Proteus Syndrome
Thymus hyperplasia, Diabetes insipidus, Neoplasm of the thymus, Splenomegaly, Enlarged polycystic... ORPHA:744
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Hypoparathyroidism, Abnormality of T cell physiology, Parathyroid hypoplasia, Diabetes mellitus ORPHA:2237
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Asplenia, Hydrocele testis, Cryptorchidism, Decreased circulating antibody level ORPHA:261537
Mowat-Wilson Syndrome
Decreased circulating antibody level, Cryptorchidism, Asplenia, Hydrocele testis, Patent ductus a... ORPHA:2152
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Decreased circulating antibody level, Cryptorchidism, Asplenia, Hydrocele testis, Patent ductus a... ORPHA:261552

Histopathology

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

There is no histopathology data for Rhoh

IMPC related publications

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

No publications found that use IMPC mice or data for Rhoh.

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MGI Allele Allele Type Produced
Rhohtm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Rhohtm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Rhohtm1b(EUCOMM)Hmgu Reporter-tagged deletion allele (with selection cassette) Mice

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