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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
Prostate gland  Wholemount images heterozygote 50% (1 of 2)
Testis  Wholemount images heterozygote 50% (1 of 2)
Thymus  Wholemount images heterozygote 100% (2 of 2)
Vas deferens  Wholemount images heterozygote Not available
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)
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)
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)
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 0.67% (4 of 598)
aorta 0.17% (1 of 598)
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)
cecum 5.73% (22 of 384)
cerebellum 0.5% (3 of 598)
cerebral cortex 0.33% (2 of 598)
esophagus 1.66% (7 of 422)
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%
mesenteric lymph node 0.31% (1 of 323)
olfactory lobe 0.33% (2 of 598)
oral epithelium 0.0%
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)
peyers patch 0.0%
pituitary gland 0.17% (1 of 598)
prostate gland 2.17% (13 of 598)
skeletal muscle 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)
trigeminal v nerve 0.0%
urinary bladder 0.0%
uterus 0.33% (2 of 598)
vas deferens 4.56% (18 of 395)
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.

X-ray

XRay Images Skull Lateral Orientation

9 Images

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X-ray

XRay Images Forepaw

9 Images

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Eye Morphology

VIP of left eye

12 Images

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Eye Morphology

VIP of left fundus

12 Images

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Eye Morphology

VIP of right fundus

12 Images

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X-ray

XRay Images Whole Body 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 eye

12 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, Hypoplasia of the thymus, Lymphopenia OMIM:200900
Reticular Dysgenesis
Leukopenia, Hypoplasia of the thymus, Lack of T cell function, Lymphopenia, Impaired T cell funct... OMIM:267500
Immunodeficiency 18
Defective T cell proliferation, Lymphopenia, Decreased proportion of CD3-positive T cells OMIM:615615
Immunodeficiency 79
Decreased proportion of CD4-positive T cells OMIM:619238
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
T lymphocytopenia, Decreased circulating IgG level OMIM:242870
Immunodeficiency 48
Absence of CD8-positive T cells, Panhypogammaglobulinemia, Splenomegaly, Hepatomegaly OMIM:269840
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Hypersplenism, Pancytopenia, Cutaneous anergy, Decreased helper T cell proportion, Splenomegaly OMIM:183350
Immunodeficiency 24
Reduced proportion of mucosal-associated invariant T cells, Decreased CD4:CD8 ratio, Decreased ci... OMIM:615897
Wiskott-Aldrich Syndrome 2
Defective T cell proliferation, Thrombocytopenia, Decreased proportion of CD8-positive T cells, R... OMIM:614493
Combined Immunodeficiency, X-Linked
Decreased proportion of CD8-positive T cells, Decreased circulating IgG level, Decreased proporti... OMIM:312863
Neutrophil Immunodeficiency Syndrome
Leukocytosis, Abnormality of neutrophil physiology ORPHA:183707
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
T lymphocytopenia ORPHA:169095
Severe Combined Immunodeficiency, X-Linked
Hypoplasia of the thymus, Decreased circulating total IgM, T lymphocytopenia, Reduced natural kil... OMIM:300400
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Hypoplasia of the thymus, Decreased proportion of CD8-positive T cells, Reduced antigen-specific ... OMIM:617241
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased circulating total IgM, Decreased proportion of CD8-positive T cells, Abnormality of the... OMIM:611926
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
T lymphocytopenia, Increased proportion of transitional B cells, Decreased circulating IgG2 level... OMIM:615513
Immunodeficiency 103, Susceptibility To Fungal Infections
Hypereosinophilia, Abnormal natural killer cell count, Abnormal proportion of CD8-positive T cell... OMIM:212050
Immunodeficiency 15A
Decreased proportion of CD8-positive T cells, Cutaneous abscess, Decreased proportion of memory B... OMIM:618204
Immunodeficiency 105
Increased B cell count, Reduced natural killer cell count, T lymphocytopenia, B lymphocytopenia, ... OMIM:619924
Okt4 Epitope Deficiency
Abnormal T cell morphology OMIM:613949
Combined Cellular And Humoral Immune Defects With Granulomas
T lymphocytopenia, B lymphocytopenia, Decreased circulating IgG level OMIM:233650
Granulomatous disease with defect in neutrophil chemotaxis
Impaired neutrophil killing of staphylococci OMIM:233670
Persistent Polyclonal B-Cell Lymphocytosis
Lymphocytosis, Decreased circulating total IgM, Splenomegaly, Hepatomegaly OMIM:606445
Lymphoproliferative Syndrome 3
Reduced natural killer cell count, Decreased circulating antibody level, Hepatosplenomegaly, Lymp... OMIM:618261
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Reduced natural killer cell count, Hypoplasia of the thymus, T lymphocytopenia, B lymphocytopenia... OMIM:619313
Immunodeficiency 86
Impaired oxidative burst, Increased circulating IgM level, Decreased circulating IgG level OMIM:619549
Specific Granule Deficiency 1
Absent neutrophil specific granules, Hyposegmentation of neutrophil nuclei, Absent neutrophil lac... OMIM:245480
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
T lymphocytopenia, Decreased lymphocyte proliferation in response to mitogen, Increased circulati... ORPHA:169154
Immunodeficiency 97 With Autoinflammation
Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Hepatosplenomegaly, Eosinophilia,... OMIM:619802
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Lack of T cell function, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Absent tonsils, Absen... ORPHA:277
Immunodeficiency 104
Splenomegaly, Lymphadenopathy, T lymphocytopenia, Hepatomegaly OMIM:608971
Cernunnos-Xlf Deficiency
Anemia, T lymphocytopenia, B lymphocytopenia, Decreased circulating antibody level, Lymphopenia, ... ORPHA:169079
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased CD4:CD8 ratio, Decreased T cell activation, Decreased proportion of CD4-positive T cell... OMIM:300853
Immunodeficiency 8 With Lymphoproliferation
Complete or near-complete absence of specific antibody response to tetanus vaccine, Lymphopenia, ... OMIM:615401
Immunodeficiency 76
T lymphocytopenia, B lymphocytopenia, Lymphopenia, Lymphadenopathy, Splenomegaly OMIM:619164
Indolent Systemic Mastocytosis
Skin rash, Mastocytosis, Increased proportion of CD25+ mast cells, Maculopapular exanthema, Abnor... ORPHA:98848
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Decreased circulating total IgM, B lymphocytopenia, Abnormally low T cell receptor excision circl... OMIM:618987
Immunodeficiency 15B
Reduced natural killer cell count, Decreased lymphocyte proliferation in response to mitogen, Dec... OMIM:615592
Agammaglobulinemia 7, Autosomal Recessive
Reduced natural killer cell count, Neutropenia, Panhypogammaglobulinemia, Agammaglobulinemia OMIM:615214
Caspase 8 Deficiency
Decreased CD4:CD8 ratio, Decreased circulating total IgM, Decreased T cell activation, Complete o... OMIM:607271
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Decreased proportion of CD4+CD25+ regulatory T cells, Decreased circulating antibody level, Absen... OMIM:619846
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
T lymphocytopenia, Abnormally low T cell receptor excision circle level OMIM:618806
Cd8 Deficiency, Familial
Absence of CD8-positive T cells OMIM:608957
Immunodeficiency 50
Neutropenia, Lymphopenia, Decreased circulating antibody level OMIM:300988
Immunodeficiency 19
Abnormal natural killer cell morphology, T lymphocytopenia, Abnormal B cell morphology OMIM:615617
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
T lymphocytopenia, Decreased helper T cell proportion OMIM:601705
Ras-Associated Autoimmune Leukoproliferative Disorder
Splenomegaly, Hemolytic anemia, Increased circulating antibody level, Lymphocytosis, Pancytopenia... OMIM:614470
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
T lymphocytopenia DECIPHER:16
Mastocytosis, Cutaneous
Cutaneous mastocytosis OMIM:154800
Immunodeficiency 20
Reduced natural killer cell count, Reduced natural killer cell activity OMIM:615707
Immunodeficiency 52
Increased proportion of gamma-delta T cells, Decreased circulating antibody level, Coombs-positiv... OMIM:617514
Immunodeficiency 11
Monocytopenia, Decreased proportion of CD4+CD25+ regulatory T cells, Decreased circulating antibo... OMIM:615206
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Lymphadenitis, Abnormal natural killer cell count, Decreased circulating total IgM, Decreased lym... ORPHA:331206
Immunodeficiency 64 With Lymphoproliferation
Decreased lymphocyte proliferation in response to mitogen, Defective T cell proliferation, Decrea... OMIM:618534
B-Cell Expansion With Nfkb And T-Cell Anergy
Increased B cell count, Decreased specific antibody response to polysaccharide vaccine, Decreased... OMIM:616452
T-Cell Immunodeficiency With Thymic Aplasia
T lymphocytopenia, Abnormally low T cell receptor excision circle level, Lymphopenia, Hepatosplen... OMIM:242700
Immunodeficiency 102
Leukopenia, Anemia, Reduced natural killer cell count, Nodular regenerative hyperplasia of liver,... OMIM:301082
Combined Immunodeficiency Due To Zap70 Deficiency
Abnormal lymph node morphology, Lymphadenitis, Decreased lymphocyte proliferation in response to ... ORPHA:911
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Increased B cell count, Increased proportion of memory T cells, Increased circulating IgG level, ... OMIM:618982
Mast Cell Sarcoma
Mastocytosis, Splenomegaly ORPHA:66661
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Panhypogammaglobulinemia, T lymphocytopenia, Abnormality of B cell physiology, Lymphopenia, Absen... OMIM:600802
Immunodeficiency 95
Decreased circulating IgG3 level, Lymphopenia, Increased circulating IgG3 level OMIM:619773
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Plasmacytosis, Autoimmune hemolytic anemia, Increased circulating antibody level, Lymphopenia OMIM:247800
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 57 With Autoinflammation
Reduced natural killer cell count, T lymphocytopenia, B lymphocytopenia, Perianal abscess, Decrea... OMIM:618108
Aicardi-Goutieres Syndrome 2
Lymphocytosis OMIM:610181
Lymphoma, Hodgkin, Classic
Impaired lymphocyte transformation with phytohemagglutinin, Polyclonal elevation of IgM OMIM:236000
Griscelli Syndrome, Type 2
Reduced delayed hypersensitivity, Hemophagocytosis, Hepatosplenomegaly OMIM:607624
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Lymphadenitis, Leukopenia, T lymphocytopenia, Monocytopenia, B lymphocytopenia, Impaired neutroph... OMIM:618986
Autoimmune Lymphoproliferative Syndrome
Chronic noninfectious lymphadenopathy, Coombs-positive hemolytic anemia, Neutropenia in presence ... OMIM:601859
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Panhypogammaglobulinemia, B lymphocytopenia, Generalized lymphadenopathy, Lymphopenia, Abnormally... OMIM:602450
Immunodeficiency 85 And Autoimmunity
Reduced natural killer cell count, T lymphocytopenia, Decreased circulating total IgM, Lymphopeni... OMIM:619510
Immunodeficiency 25
Complete or near-complete absence of specific antibody response to tetanus vaccine, T lymphocytop... OMIM:610163
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Impaired lymphocyte transformation with phytohemagglutinin, Increased CD4:CD8 ratio, Decreased sp... OMIM:617006
Immunodeficiency 68
Lymphadenitis, Abnormal natural killer cell count, T lymphocytopenia, B lymphocytopenia, Abscess OMIM:612260
Immunodeficiency 17
Chronic decreased cirulating IgG2, T lymphocytopenia, Abnormal B cell morphology, Decreased propo... OMIM:615607
Immunodeficiency, Common Variable, 1
Decreased circulating total IgM, B lymphocytopenia, Neutropenia in presence of anti-neutropil ant... OMIM:607594
Immunodeficiency 44
Abnormal circulating IgG level, Decreased circulating IgA level, Decreased circulating total IgM,... OMIM:616636
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Reduced natural killer cell count, Decreased proportion of CD4-positive helper T cells, Decreased... ORPHA:276
Agammaglobulinemia 8B, Autosomal Recessive
Anemia, Decreased circulating total IgM, B lymphocytopenia, Decreased proportion of CD8-positive,... OMIM:619824
Immunodeficiency 70
Decreased circulating total IgM, B lymphocytopenia, Decreased circulating antibody level, Decreas... OMIM:618969
Lymphoproliferative Syndrome, X-Linked, 1
Reduced natural killer cell activity, Decreased circulating antibody level, Fulminant hepatitis, ... OMIM:308240
Combined Immunodeficiency Due To Partial Rag1 Deficiency
T lymphocytopenia, B lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, Autoi... ORPHA:231154
Immunodeficiency 81
Reduced natural killer cell activity, Impaired neutrophil chemotaxis, Reduced antigen-specific T ... OMIM:619374
Immunodeficiency 13
Decreased CD4:CD8 ratio, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Decreased proportion ... OMIM:615518
Combined Immunodeficiency Due To Dock8 Deficiency
Increased circulating IgE level, T lymphocytopenia, B lymphocytopenia ORPHA:217390
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Hepatitis, Lymphopenia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemi... ORPHA:444463
Immunodeficiency 42
Hypoplasia of the thymus, Splenomegaly OMIM:616622
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
T lymphocytopenia, B lymphocytopenia, Decreased circulating total IgM, Lack of T cell function, D... ORPHA:35078
Immunodeficiency 43
Reduced natural killer cell count, Decreased specific antibody response to polysaccharide vaccine... OMIM:241600
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Impaired lymphocyte transformation with phytohemagglutinin, Polyclonal elevation of IgM, Monoclon... OMIM:153600
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Hypoplasia of the thymus, Decreased circulating antibody level, Interface hepatitis, Lymphopenia,... OMIM:243150
Transcobalamin Deficiency
Decreased circulating total IgM, Decreased circulating antibody level, Pancytopenia, Lymphopenia,... ORPHA:859
Omenn Syndrome
Anemia, Hypoplasia of the thymus, B lymphocytopenia, Severe B lymphocytopenia, Lymphadenopathy, E... OMIM:603554
Focal Facial Dermal Dysplasia Type Iv
Abnormal mast cell morphology ORPHA:398189
Autoinflammation With Infantile Enterocolitis
Reduced natural killer cell count, Anemia, Reduced natural killer cell activity, Pancytopenia, Th... OMIM:616050
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Decreased CD4:CD8 ratio, Autoimmune hemolytic anemia, Lymphadenopathy, Hepatomegaly, Increased ci... OMIM:618495
Immunoglobulin A Deficiency 2
Decreased circulating IgA level, Abnormal lymphocyte morphology OMIM:609529
Immunodeficiency 37
Decreased proportion of central memory CD4-positive, alpha-beta T cells, Decreased circulating an... OMIM:616098
Agammaglobulinemia 8A, Autosomal Dominant
Agammaglobulinemia, B lymphocytopenia OMIM:616941
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Hypothyroidism, Decreased CD4:CD8 ratio, Hemolytic anemia, T lymphocytopenia, B lymphocytopenia, ... OMIM:606367
Immunodeficiency 110 With Lymphoproliferation
Neutropenia, Lymphopenia OMIM:614868
Epidermodysplasia Verruciformis, Susceptibility To, 5
T lymphocytopenia, Lymphopenia OMIM:618309
Autoimmune Lymphoproliferative Syndrome, Type Iia
Chronic noninfectious lymphadenopathy, Increased B cell count, Coombs-positive hemolytic anemia, ... OMIM:603909
Agammaglobulinemia 3, Autosomal Recessive
Abnormal T cell morphology, Absent isohemagglutinin level, Absent circulating B cells, Agammaglob... OMIM:613501
Lymphoproliferative Syndrome 1
Leukopenia, Anemia, Decreased circulating antibody level, Pancytopenia, Autoimmune thrombocytopen... OMIM:613011
Aggressive Systemic Mastocytosis
Anemia, Maculopapular exanthema, Hypersplenism, Pancytopenia, Hepatosplenomegaly, Increased propo... ORPHA:98850
Immunodeficiency 62
Complete or near-complete absence of specific antibody response to tetanus vaccine, Decreased cir... OMIM:618459
Ataxia-Telangiectasia
Female hypogonadism, Hypoplasia of the thymus, T lymphocytopenia, Decreased circulating IgG2 leve... OMIM:208900
Lymphangiectasia, Intestinal
Intestinal lymphangiectasia, Lymphopenia, Decreased circulating IgG level OMIM:152800
Immunodeficiency By Defective Expression Of Mhc Class Ii
Panhypogammaglobulinemia, T lymphocytopenia, Lack of T cell function, Decreased circulating antib... ORPHA:572
Immunodeficiency 36 With Lymphoproliferation
Chronic lymphatic leukemia, Increased proportion of transitional B cells, B lymphocytopenia, Enla... OMIM:616005
Burkitt Lymphoma
Abnormal lymph node morphology, Abnormality of the pancreas, Abnormality of the liver, Abnormalit... ORPHA:543
Immunodeficiency 21
Reduced natural killer cell count, Anemia, Myeloid leukemia, Monocytopenia, B lymphocytopenia, Ly... OMIM:614172
Immunodeficiency 54
Reduced natural killer cell count, Adrenocorticotropic hormone excess, Adrenal insufficiency, Lym... OMIM:609981
Mu-Heavy Chain Disease
Anemia, Increased circulating antibody level, Abnormal B cell count, Lymphadenopathy, Hepatomegal... ORPHA:100024
Immunodeficiency 40
T lymphocytopenia, Reduced antigen-specific T cell proliferation, Eosinophilic granuloma, Hepatom... OMIM:616433
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Abnormal natural killer cell count, Anemia, Panhypogammaglobulinemia, T lymphocytopenia, Jaundice... ORPHA:79124
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, Neutropenia, B lymphocytopenia OMIM:613107
Immunodeficiency With Hyper-Igm, Type 3
Impaired Ig class switch recombination, Decreased circulating IgE, Decreased circulating IgA leve... OMIM:606843
Agammaglobulinemia 2, Autosomal Recessive
Abnormal T cell morphology, Decreased circulating total IgM, Absent circulating B cells, Decrease... OMIM:613500
Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant
Reduced natural killer cell count, Decreased circulating total IgM, Cutaneous abscess, Lymphopeni... OMIM:619752
Congenital Disorder Of Glycosylation, Type Iir
Decreased circulating antibody level, Jaundice, Decreased proportion of CD4-positive T cells, Hep... OMIM:301045
Immunodeficiency 92
B lymphocytopenia, Lymphocytosis, Sclerosing cholangitis, Cholangitis, Decreased proportion of cl... OMIM:619652
Mirage Syndrome
Patent ductus arteriosus, Leukopenia, Anemia, Adrenal insufficiency, Decreased testicular size, L... OMIM:617053
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Decreased lymphocyte proliferation in response to mitogen, Increased circulating antibody level, ... ORPHA:169160
Agammaglobulinemia 10, Autosomal Dominant
Decreased circulating total IgM, Type I diabetes mellitus, Absent circulating B cells, Decreased ... OMIM:619707
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive
Reduced natural killer cell count, Decreased circulating total IgM, Increased circulating IgG lev... OMIM:243700
Selective Igm Deficiency
Lymphadenitis, Decreased circulating IgG level, Decreased circulating total IgM, Thyroid carcinom... ORPHA:331235
Progressive Multifocal Leukoencephalopathy
Abnormal proportion of CD4-positive T cells, Decreased proportion of CD8-positive T cells ORPHA:217260
X-Linked Lymphoproliferative Disease
T lymphocytopenia, Hepatosplenomegaly, Increased T cell count, Bone marrow hypocellularity, Cervi... ORPHA:2442
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 6
Decreased circulating antibody level, Abnormally low T cell receptor excision circle level, Pancy... OMIM:619767
Cutaneous Mastocytosis, Conductive Hearing Loss And Microtia
Cutaneous mastocytosis OMIM:248910
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Abnormal circulating IgG level, Complete or near-complete absence of specific antibody response t... ORPHA:70593
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Reduced natural killer cell count, Decreased circulating IgA level, T lymphocytopenia, Increased ... OMIM:242860
Asplenia, Isolated Congenital
Asplenia, Howell-Jolly bodies, Thrombocytosis OMIM:271400
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
B lymphocytopenia, Lymphadenopathy, Abnormal CD4:CD8 ratio, Neutropenia, Intermittent thrombocyto... OMIM:150550
Obesity Due To Congenital Leptin Deficiency
Hyperinsulinemia, Decreased serum estradiol, Decreased T cell activation, Absence of secondary se... ORPHA:66628
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Asplenia, Splenomegaly, HbS hemoglobin, Reticulocytosis, Persistence of hemoglobin F, Hypochromic... ORPHA:251380
Wiskott-Aldrich Syndrome
Decreased circulating total IgM, Reduced natural killer cell activity, Absent microvilli on the s... OMIM:301000
Acute Panmyelosis With Myelofibrosis
Acute myeloid leukemia, Acute myelomonocytic leukemia, Lymphocytosis, Pancytopenia, Bone marrow h... ORPHA:86843
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Decreased circulating total IgM, B lymphocytopenia, Absent specific antibody response, Decreased ... OMIM:102700
Thymic Aplasia
Hypothyroidism, T lymphocytopenia, Decreased lymphocyte proliferation in response to mitogen, Coo... ORPHA:83471
Immunodeficiency, Common Variable, 13
Acute lymphoblastic leukemia, Pancytopenia, B lymphocytopenia, Decreased circulating antibody level OMIM:616873
Acquired Partial Lipodystrophy
Hepatic steatosis, Lymphocytosis ORPHA:79087
Agammaglobulinemia 6, Autosomal Recessive
Abnormal T cell morphology, Decreased circulating total IgM, B lymphocytopenia, Decreased circula... OMIM:612692
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Impaired neutrophil chemotaxis, Neutrophilia, Abnormally low T cell receptor excision circle leve... OMIM:608203
Lissencephaly Syndrome, Norman-Roberts Type
Hypoplastic spleen ORPHA:89844
Obesity Due To Leptin Receptor Gene Deficiency
Hyperinsulinemia, Decreased serum estradiol, Decreased T cell activation, Absence of secondary se... ORPHA:179494
Immunodeficiency 14B, Autosomal Recessive
Decreased circulating total IgM, B lymphocytopenia, Reduced natural killer cell activity, Neutrop... OMIM:619281
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Lymphopenia, Decreased circulating antibody level ORPHA:1116
Immunodeficiency 96
Decreased circulating total IgM, Increased proportion of gamma-delta T cells, Defective T cell pr... OMIM:619774
Immunodeficiency, Common Variable, 2
Lymphadenopathy, Follicular hyperplasia, Impaired T cell function, Decreased circulating IgA leve... OMIM:240500
Proteasome-Associated Autoinflammatory Syndrome 2
Increased CD4:CD8 ratio, B lymphocytopenia, Lymphadenopathy, Increased circulating IgA level, Dec... OMIM:618048
Stormorken Syndrome
Asplenia, Anemia, Howell-Jolly bodies, Thrombocytopenia, Hypoplastic spleen OMIM:185070
Systemic Mastocytosis With Associated Hematologic Neoplasm
Acute myeloid leukemia, Myeloid leukemia, Increased basophil count, Chronic lymphatic leukemia, C... ORPHA:98849
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Acute myeloid leukemia, Anemia, Reduced natural killer cell count, Acute lymphoblastic leukemia, ... ORPHA:158057
Macrophage Activation Syndrome
Abnormal natural killer cell count, Anemia, Hepatitis, Lymphadenopathy, Hemophagocytosis, Hepatom... ORPHA:158061
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Decreased circulating total IgM, Decreased circulating antibody level, Lymphopenia, Autoimmune th... OMIM:616100
Aregenerative Anemia
Reticulocytopenia, Abnormal proportion of CD8-positive T cells, Erythroid hypoplasia, Pancytopeni... ORPHA:101096
Neutropenia, Severe Congenital, X-Linked
Decreased CD4:CD8 ratio, Monocytopenia, Neutropenia OMIM:300299
Immunodeficiency 26 With Or Without Neurologic Abnormalities
Abnormal natural killer cell morphology, T lymphocytopenia, B lymphocytopenia OMIM:615966
Purine Nucleoside Phosphorylase Deficiency
Decreased lymphocyte proliferation in response to mitogen, Neutropenia in presence of anti-neutro... OMIM:613179
Pgm3-Cdg
Leukopenia, Reduced natural killer cell count, T lymphocytopenia, Hemolytic anemia, Abnormal prop... ORPHA:443811
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Patent ductus arteriosus, Leukopenia, Anemia, Hypoplasia of the thymus, Perianal abscess, Erythro... OMIM:612541
Immunodeficiency 49
T lymphocytopenia, Decreased proportion of naive CD4 T cells, Lymphopenia, Abnormally low T cell ... OMIM:617237
Immunodeficiency With Hyper-Igm, Type 1
Sclerosing cholangitis, Hepatomegaly, Absence of lymph node germinal center, Thrombocytopenia, Im... OMIM:308230
Syndromic Diarrhea
Patent ductus arteriosus, Hypothyroidism, Splenomegaly, Hepatic fibrosis, Hypoplasia of the thymu... ORPHA:84064
Adult Idiopathic Neutropenia
Monocytopenia, Lymphopenia, Abnormal neutrophil count, Increased circulating IgM level, Monocytos... ORPHA:2688
Immunodeficiency 32B
Abnormal circulating IgG level, Anemia, Monocytopenia, Bronchiectasis, Neutrophilia, Sinusitis, E... OMIM:226990
Stormorken-Sjaastad-Langslet Syndrome
Asplenia, Anemia ORPHA:3204
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Megaloblastic anemia, Decreased circulating antibody level, Lymphopenia, Pancytopenia, Thrombocyt... OMIM:617780
Hemophagocytic Syndrome Associated With An Infection
Abnormal natural killer cell count, Abnormal T cell subset distribution, Anemia, Pancytopenia, He... ORPHA:158048
Agammaglobulinemia, X-Linked
Complete or near-complete absence of specific antibody response to Haemophilus influenzae type b ... OMIM:300755
Bone Marrow Failure Syndrome 6
Hypothyroidism, Anemia, Lymphopenia, Persistence of hemoglobin F, Bone marrow hypocellularity, In... OMIM:618849
Dyskeratosis Congenita, Autosomal Recessive 8
Reduced natural killer cell count, B lymphocytopenia, Bone marrow hypocellularity, Pancytopenia OMIM:620133
Acute Monoblastic/Monocytic Leukemia
Central hypothyroidism, Anemia, Lymphocytosis, Cervical lymphadenopathy, Acute monocytic leukemia... ORPHA:514
Immunodeficiency 22
Anemia, Decreased circulating total IgM, Decreased circulating IgE, Decreased circulating IgA lev... OMIM:615758
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Neutrophilia, Lymphadenopathy, Increased circulating IgA level, Leukocytosis, Increased circulati... OMIM:617099
Congenital Disorder Of Glycosylation, Type Iic
Periodontitis, Neutrophilia, Recurrent otitis media, Reduction of neutrophil motility, Pneumonia OMIM:266265
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Hypereosinophilia, T lymphocytopenia, Decreased circulating total IgM, Decreased lymphocyte proli... ORPHA:508533
Hermansky-Pudlak Syndrome 2
Reduced natural killer cell count, Decreased CD4:CD8 ratio, Enlarged platelet dense granules, Red... OMIM:608233
Immunodeficiency 98 With Autoinflammation, X-Linked
B lymphocytopenia, Type I diabetes mellitus, Autoimmune hemolytic anemia, Lymphadenopathy, Hemoph... OMIM:301078
Gracile Bone Dysplasia
Asplenia, Hypoplastic spleen OMIM:602361
Autoimmune Polyendocrinopathy Type 4
Thymoma, Leukopenia, Biliary cirrhosis, Non-caseating epithelioid cell granulomatosis, Decreased ... ORPHA:227990
Lymphedema, Primary, With Myelodysplasia
Acute myeloid leukemia, Decreased CD4:CD8 ratio, Leukemia, Pancytopenia OMIM:614038
Autoimmune Polyendocrinopathy Type 3
Thymoma, Leukopenia, Biliary cirrhosis, Autoimmune hypoparathyroidism, Non-caseating epithelioid ... ORPHA:227982
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
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Hashimoto thyroiditis, Decreased circulating IgG level, Decreased circulating IgA level, Decrease... ORPHA:275
Autoimmune Lymphoproliferative Syndrome
Coombs-positive hemolytic anemia, Hepatocellular carcinoma, Reticulocytosis, Bone marrow hypocell... ORPHA:3261
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Lymphadenitis, Perianal abscess, Hemolytic anemia, Granuloma, Lymphopenia, Hepatosplenomegaly, Ac... OMIM:618935
Heme Oxygenase 1 Deficiency
Asplenia, Hemolytic anemia, Coombs-positive hemolytic anemia, Lymphadenopathy, Thrombocytosis, He... OMIM:614034
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Intestinal lymphangiectasia, Lymphopenia OMIM:207731
Wiskott-Aldrich Syndrome
Anemia, Hypoplasia of the thymus, Hemolytic anemia, Abnormal platelet function, Abnormal eosinoph... ORPHA:906
Mastocytosis
Mastocytosis, Acute leukemia, Splenomegaly, Chronic leukemia ORPHA:98292
Primary Intestinal Lymphangiectasia
Anemia, Reduced proportion of CD4+ effector memory T cells, Decreased circulating total IgM, Decr... ORPHA:90362
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Asplenia OMIM:618948
Immunodeficiency 9
Hypoplasia of the thymus OMIM:612782
Autoinflammatory Disease, Systemic, X-Linked
Decreased circulating total IgM, B lymphocytopenia, Decreased circulating antibody level, Hepatos... OMIM:301081
Immunodeficiency 55
Lymphadenopathy, Neutropenia, Absent natural killer cells, Lymphopenia OMIM:617827
Diffuse Cutaneous Mastocytosis
Abnormality of the liver, Lymphocytosis, Lymphadenopathy, Hepatomegaly, Myeloproliferative disord... ORPHA:79456
Pearson Syndrome
Hypothyroidism, Anemia, Abnormality of the liver, Decreased response to growth hormone stimulatio... ORPHA:699
Chédiak-Higashi Syndrome
Recurrent bacterial skin infections, Anemia, Neutropenia, Periodontitis, Skin rash, Abnormal plat... ORPHA:167
Necrobiosis Lipoidica
Granuloma, Inflammatory abnormality of the skin, Abnormality of neutrophil physiology ORPHA:542592
Laterality Defects, Autosomal Dominant
Asplenia OMIM:601086
Immunodeficiency 108 With Autoinflammation
Impaired neutrophil chemotaxis, Recurrent aphthous stomatitis, Hyposegmentation of neutrophil nuclei OMIM:260570
Chronic Beryllium Disease
Abnormal proportion of CD4-positive T cells, Mediastinal lymphadenopathy ORPHA:133
Combined Immunodeficiency With Faciooculoskeletal Anomalies
Abnormal T cell subset distribution, Reduced natural killer cell count, Decreased circulating tot... ORPHA:221139
Hypoglossia With Situs Inversus
Asplenia, Polysplenia OMIM:612776
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Spontaneous hemolytic crises, Cholecystitis, Impaired neutrophil bactericidal activity, Nonsphero... OMIM:613470
Proteasome-Associated Autoinflammatory Syndrome 3
Anemia, Increased circulating antibody level, Lymphopenia, Lymphadenopathy, Hepatomegaly, Thrombo... OMIM:617591
Acitretin/Etretinate Embryopathy
Hypoplasia of the thymus ORPHA:40366
Peroxisome Biogenesis Disorder 2A (Zellweger)
Hypoplasia of the thymus, Jaundice, Intrahepatic biliary dysgenesis, Hepatomegaly, Cryptorchidism OMIM:214110
Vici Syndrome
Leukopenia, T lymphocytopenia, Decreased T cell activation, Decreased circulating IgG2 level, Lym... OMIM:242840
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Patent ductus arteriosus, Decreased response to growth hormone stimulation test, T lymphocytopeni... OMIM:618223
Bare Lymphocyte Syndrome, Type Ii
Panhypogammaglobulinemia, Neutropenia, Biliary tract abnormality, Cholangitis, Viral hepatitis, C... OMIM:209920
Microphthalmia, Syndromic 9
Patent ductus arteriosus, Hypoplastic spleen, Multilobulated spleen, Cryptorchidism OMIM:601186
Hennekam-Beemer Syndrome
Mastocytosis, Pneumonia ORPHA:2135
Hereditary Orotic Aciduria
Patent ductus arteriosus, Anemia, Impaired T cell function, Splenomegaly ORPHA:30
Common Variable Immunodeficiency
Abnormality of the liver, Hemolytic anemia, Decreased circulating antibody level, Lymphopenia, Au... ORPHA:1572
Immunodeficiency 82 With Systemic Inflammation
Reduced natural killer cell count, Anemia, T lymphocytopenia, B lymphocytopenia, Decreased circul... OMIM:619381
Isolated Anencephaly
Thymus hyperplasia, Adrenal hypoplasia, Maternal diabetes ORPHA:563609
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
T lymphocytopenia, B lymphocytopenia, Hepatitis, Neutropenia in presence of anti-neutropil antibo... ORPHA:391487
Schimke Immuno-Osseous Dysplasia
Anemia, Abnormality of thyroid physiology, Lymphopenia, Abnormal lymphocyte physiology, Impaired ... ORPHA:1830
Congenital Disorder Of Glycosylation, Type Iil
Patent ductus arteriosus, Cirrhosis, Pancytopenia, Impaired T cell function, Cholestasis, Hepatom... OMIM:614576
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Decreased T cell activation, Perianal abscess, Defective T cell proliferation, Increased circulat... OMIM:618213
Progeria-Short Stature-Pigmented Nevi Syndrome
Decreased serum estradiol, T lymphocytopenia, Neoplasm of the pancreas, Hepatic steatosis, Delaye... ORPHA:2959
Combined Immunodeficiency-Enteropathy Spectrum
Peritoneal abscess, Hypoplasia of the thymus, Hepatitis, Type I diabetes mellitus, Autoimmune hem... ORPHA:436252
Spondyloenchondrodysplasia With Immune Dysregulation
Hypothyroidism, T lymphocytopenia, Lymphopenia, Autoimmune thrombocytopenia, Lymphadenopathy, Neu... OMIM:607944
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Anemia, Agammaglobulinemia, Lymphopenia, Abnormality of the pancreas ORPHA:935
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Reduced natural killer cell count, Perianal abscess, Lymphocytosis, Thrombocytosis, Decreased pro... OMIM:301074
Lethal Congenital Contracture Syndrome 10
Hypoplasia of the thymus OMIM:617022
Onychotrichodysplasia And Neutropenia
Chronic neutropenia, Lymphocytosis, Neutropenia OMIM:258360
Drug Reaction With Eosinophilia And Systemic Symptoms
Hepatitis, Lymphocytosis, Thyroiditis, Lymphadenopathy, Eosinophilia ORPHA:139402
Orotic Aciduria
Pyrimidine-responsive megaloblastic anemia, Poikilocytosis, Anisocytosis, Impaired T cell functio... OMIM:258900
Autoimmune Polyendocrine Syndrome, Type Ii
Thymoma, Asplenia, Cirrhosis, Hypothyroidism, Hyperthyroidism, Hepatitis, Exocrine pancreatic ins... OMIM:269200
Nijmegen Breakage Syndrome
T lymphocytopenia, B lymphocytopenia, Autoimmune hemolytic anemia, Dysgammaglobulinemia, Thromboc... OMIM:251260
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Lymphadenitis, Recurrent bacterial skin infections, Osteomyelitis, Liver abscess, Discoid lupus r... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Lymphadenitis, Recurrent bacterial skin infections, Osteomyelitis, Liver abscess, Discoid lupus r... OMIM:233710
Nk-Cell Enteropathy
Increased T cell count ORPHA:263665
Wolcott-Rallison Syndrome
Central hypothyroidism, Hypothyroidism, Neonatal insulin-dependent diabetes mellitus, Abnormality... ORPHA:1667
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome
Aplasia of the thymus ORPHA:3004
Digeorge Syndrome
Patent ductus arteriosus, Hypothyroidism, Anemia, Hypoplasia of the thymus, Hydrocele testis, Hep... OMIM:188400
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Hypogonadism, Decreased testicular size, Impaired T cell function, Hepatomegaly, Decreased serum ... OMIM:201100
Renal-Hepatic-Pancreatic Dysplasia 2
Asplenia, Hepatic fibrosis, Malformation of the hepatic ductal plate, Cholestasis, Hepatomegaly, ... OMIM:615415
Renal-Hepatic-Pancreatic Dysplasia 1
Pancreatic cysts, Asplenia, Biliary cirrhosis, Hepatic fibrosis, Cirrhosis, Patent ductus arterio... OMIM:208540
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Lymphadenitis, Recurrent bacterial skin infections, Osteomyelitis, Liver abscess, Discoid lupus r... OMIM:233690
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Lymphocytosis, Lymphadenopathy, Cervical lymphadenopathy, Thrombocytopenia, Decreased mean platel... OMIM:617718
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Female hypogonadism, Asplenia, Hypothyroidism, Decreased circulating aldosterone level, Chronic a... OMIM:240300
22Q11.2 Deletion Syndrome
Patent ductus arteriosus, Hypothyroidism, Hypoplasia of the thymus, Hyperthyroidism, Impaired T c... ORPHA:567
Cutis Laxa, Autosomal Recessive, Type Ic
Hypoplasia of the thymus, Accessory spleen, Adrenal hypoplasia OMIM:613177
Bloom Syndrome
Acute myeloid leukemia, Decreased circulating total IgM, Decreased circulating antibody level, Ab... ORPHA:125
Chediak-Higashi Syndrome
Leukopenia, Anemia, Recurrent bacterial skin infections, Periodontitis, Giant neutrophil granules... OMIM:214500
Treacher-Collins Syndrome
Patent ductus arteriosus, Hypoplasia of the thymus, Thyroid hypoplasia, Abnormality of the adrena... ORPHA:861
Cardiofacioneurodevelopmental Syndrome
Asplenia, Abdominal situs inversus, Cryptorchidism OMIM:619123
Eec Syndrome
Anterior hypopituitarism, Hypoplasia of the thymus, Decreased response to growth hormone stimulat... ORPHA:1896
Kikuchi-Fujimoto Disease
Abnormal lymph node morphology, Leukopenia, Anemia, Enlargement of parotid gland, Lymphocytosis, ... ORPHA:50918
Ciliary Dyskinesia, Primary, 1
Asplenia OMIM:244400
Proteus-Like Syndrome
Abnormality of the parathyroid gland, Polycystic ovaries, Thymus hyperplasia, Splenomegaly ORPHA:2969
Primary Ciliary Dyskinesia
Asplenia, Polysplenia ORPHA:244
Granulomatous Disease, Chronic, X-Linked
Lymphadenitis, Recurrent bacterial skin infections, Osteomyelitis, Liver abscess, Granuloma, Disc... OMIM:306400
Heterotaxy, Visceral, 2, Autosomal
Asplenia, Polysplenia, Abdominal situs inversus OMIM:605376
Right Atrial Isomerism
Asplenia, Polysplenia, Abdominal situs ambiguus OMIM:208530
Congenital Alveolar Capillary Dysplasia
Absent gallbladder, Asplenia, Patent ductus arteriosus, Annular pancreas ORPHA:210122
Sweeney-Cox Syndrome
Patent ductus arteriosus, Asplenia, Bilateral cryptorchidism OMIM:617746
Primary Sjögren Syndrome
Leukopenia, Biliary cirrhosis, Decreased circulating antibody level, Increased circulating antibo... ORPHA:289390
Leukocyte Adhesion Deficiency
Acute myeloid leukemia, Perianal abscess, Bronchiectasis, Impaired neutrophil chemotaxis, Glomeru... ORPHA:2968
Sarcoidosis, Susceptibility To, 1
Increased circulating antibody level, Enlarged lacrimal glands, Abnormality of T cell physiology,... OMIM:181000
Mosaic Trisomy 9
Patent ductus arteriosus, Asplenia, Abnormal liver lobulation, Cryptorchidism ORPHA:99776
Monosomy 22
Hypochromic microcytic anemia, Aplasia of the thymus, Hepatosplenomegaly ORPHA:96123
Myopathy, Epilepsy, And Progressive Cerebral Atrophy
Thymus hyperplasia OMIM:619036
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Patent ductus arteriosus, Asplenia OMIM:619657
Microsporidiosis
Lymphadenitis, Brain abscess, Hepatitis, Peritonitis, Thyroiditis, Biliary tract abnormality, Cho... ORPHA:2552
Feingold Syndrome 1
Patent ductus arteriosus, Asplenia, Polysplenia, Accessory spleen, Annular pancreas OMIM:164280
Truncus Arteriosus
Patent ductus arteriosus, Adrenocortical abnormality, Hypoplasia of the thymus ORPHA:3384
Wiedemann-Rautenstrauch Syndrome
Increased serum testosterone level, Hypoplasia of the thymus, Cryptorchidism OMIM:264090
Sarcoidosis
Abnormal lymph node morphology, Leukopenia, Anemia, Hypothyroidism, Diabetes insipidus, Hemolytic... ORPHA:797
Meckel Syndrome
Pancreatic cysts, Asplenia, Pancreatic fibrosis, Accessory spleen, Cryptorchidism, Cystic liver d... ORPHA:564
Meckel Syndrome, Type 1
Patent ductus arteriosus, Asplenia, Malformation of the hepatic ductal plate, Bile duct prolifera... OMIM:249000
Heterotaxy, Visceral, 1, X-Linked
Patent ductus arteriosus, Asplenia, Biliary atresia, Polysplenia, Hepatomegaly, Abdominal situs i... OMIM:306955
Tetraamelia Syndrome 1
Asplenia, Adrenal gland agenesis OMIM:273395
Pseudoaminopterin Syndrome
Asplenia, Cryptorchidism ORPHA:221120
Heterotaxy, Visceral, 5, Autosomal
Abdominal situs inversus, Asplenia, Abdominal situs ambiguus, Patent ductus arteriosus OMIM:270100
Liver Disease, Severe Congenital
Portal inflammation, Hyperinsulinemic hypoglycemia, Hepatic steatosis, Hepatomegaly, Thrombocytop... OMIM:619991
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Patent ductus arteriosus, Asplenia, Pulmonary lymphangiectasia, Annular pancreas OMIM:265380
Proteus Syndrome
Diabetes insipidus, Macroorchidism, Neoplasm of the thymus, Enlarged polycystic ovaries, Testicul... ORPHA:744
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Diabetes mellitus, Parathyroid hypoplasia, Abnormality of T cell physiology, Hypoparathyroidism ORPHA:2237
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Asplenia, Cryptorchidism, Hydrocele testis, Decreased circulating antibody level ORPHA:261537
Mowat-Wilson Syndrome
Patent ductus arteriosus, Asplenia, Decreased circulating antibody level, Hydrocele testis, Crypt... ORPHA:2152
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Patent ductus arteriosus, Asplenia, Decreased circulating antibody level, Hydrocele testis, Crypt... 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, Tissue

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