Gene Summary

Name:
histamine receptor H4
Synonyms:
H4R

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
increased cornea thickness Hrh4tm1b(EUCOMM)Hmgu HOM   Early adult 1.88×10-06
decreased heart weight Hrh4tm1b(EUCOMM)Hmgu HOM   Early adult 1.07×10-05
decreased total retina thickness Hrh4tm1b(EUCOMM)Hmgu HOM   Early adult 6.73×10-05

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lacZ Expression

Expression data not available

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 Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Immunophenotyping

Panel B FCS file(s)

6 Images

Immunophenotyping

Panel A FCS file(s)

6 Images

Human diseases caused by Hrh4 mutations

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

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

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Hrh4 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Pseudoxanthomatous Diffuse Cutaneous Mastocytosis
Cutaneous mastocytosis ORPHA:280794
Carbimazole Sensitivity
Drug-induced agranulocytosis OMIM:212060
Neutrophil Immunodeficiency Syndrome
Leukocytosis, Abnormality of neutrophil physiology ORPHA:183707
Pa Polymorphism Of Alpha-2-Globulin
Abnormal immunoglobulin level OMIM:260100
Granulomatous disease with defect in neutrophil chemotaxis
Impaired neutrophil killing of staphylococci OMIM:233670
Immunodeficiency 11
Decreased circulating antibody level, Pneumonia OMIM:615206
Retinal Dysplasia, Primary
Falciform retinal fold, Retinal dysplasia OMIM:312550
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive
Atopic dermatitis, Increased circulating interleukin 6, Decreased circulating IgG level, Recurren... OMIM:618944
Megalocornea
Decreased corneal thickness, Corneal arcus, Lens subluxation, Iris transillumination defect, Irid... OMIM:309300
Immunodeficiency 86
Decreased circulating IgG level, Impaired oxidative burst, Increased circulating IgM level OMIM:619549
Specific Granule Deficiency 1
Absent neutrophil lactoferrin, Absent neutrophil specific granules, Increased neutrophil mitochon... OMIM:245480
Ige Responsiveness, Atopic
Increased circulating IgE level, Eczema, Allergic rhinitis OMIM:147050
Deafness, Neural, With Atypical Atopic Dermatitis
Late onset atopic dermatitis, Increased circulating IgE level OMIM:221700
Undritz Anomaly
Hypersegmentation of neutrophil nuclei OMIM:191500
Immunodeficiency, Common Variable, 4
Decreased circulating IgG level, Recurrent pneumonia, Decreased circulating total IgM, Complete o... OMIM:613494
Corneal Endothelial Dystrophy
Opacification of the corneal stroma, Increased corneal thickness, Abnormal Descemet membrane morp... OMIM:217700
Retinal Telangiectasia And Hypogammaglobulinemia
Reduced delayed hypersensitivity, Decreased circulating IgG level OMIM:267900
Corneal Dystrophy, Congenital Stromal
Increased corneal thickness, Congenital corneal dystrophy OMIM:610048
Cornea Plana 2, Autosomal Recessive
Decreased corneal thickness, Corneal arcus, Flat cornea OMIM:217300
Immunoglobulin Kappa Light Chain Deficiency
Abnormal immunoglobulin level OMIM:614102
Keratoconus 1
Astigmatism, Keratoconus OMIM:148300
Immune Deficiency, Familial Variable
Decreased circulating IgA level, Decreased circulating IgG level OMIM:146830
Immunodeficiency With Hyper-Igm, Type 5
Decreased circulating IgA level, Decreased circulating IgG level, Epididymitis, Increased circula... OMIM:608106
Gamma-A-Globulin, Defect In Assembly Of
Decreased circulating IgA level OMIM:137050
Keratoconus 6
Keratoconus OMIM:614623
Keratoconus 5
Keratoconus OMIM:614622
Keratoconus 8
Keratoconus OMIM:614628
Keratoconus 7
Keratoconus OMIM:614629
Immunodeficiency With Hyper-Igm, Type 3
Decreased circulating IgA level, Impaired memory B cell generation, Decreased circulating IgG lev... OMIM:606843
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4
Decreased circulating antibody level, Agammaglobulinemia OMIM:616911
Lymphoid System Deterioration, Progressive
Decreased circulating IgG level, Decreased circulating total IgM OMIM:247630
Immunodeficiency, Common Variable, 3
Reduced isohemagglutinin level, Decreased circulating IgA level, Recurrent otitis media, Decrease... OMIM:613493
Histiocytosis, Familial Lipochrome
Increased circulating antibody level, Increased alpha-globulin OMIM:235900
Corneal Dystrophy, Epithelial Basement Membrane
Map-dot-fingerprint corneal dystrophy, Recurrent corneal erosions, Corneal dystrophy OMIM:121820
Leber Congenital Amaurosis 4
Macular atrophy, Optic disc pallor, Attenuation of retinal blood vessels, Cone/cone-rod dystrophy... OMIM:604393
Immunoerythromyeloid Hypoplasia
Decreased circulating IgG level OMIM:242880
Immunoglobulin M, Level Of
Decreased circulating total IgM OMIM:308250
Agammaglobulinemia 2, Autosomal Recessive
Agammaglobulinemia, Recurrent pneumonia OMIM:613500
Indolent Systemic Mastocytosis
Increased proportion of CD25+ mast cells, Mastocytosis, Abnormal mast cell morphology, Splenomegaly ORPHA:98848
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin
Decreased circulating IgA level OMIM:235500
Agammaglobulinemia 5, Autosomal Dominant
Agammaglobulinemia OMIM:613506
Macular Corneal Dystrophy
Decreased corneal thickness, Decreased corneal sensation, Hyperopic astigmatism, Corneal crystals... ORPHA:98969
Immunodeficiency, Common Variable, 14
Psoriasiform dermatitis, Decreased specific antibody response to vaccination, Decreased circulati... OMIM:617765
Macular Dystrophy, Corneal
Punctate opacification of the cornea, Macular dystrophy, Recurrent corneal erosions, Corneal dyst... OMIM:217800
Palmoplantar Keratoderma, Epidermolytic
Increased circulating IgE level OMIM:144200
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Decreased circulating antibody level, Recurrent skin infections OMIM:617744
B-Cell Expansion With Nfkb And T-Cell Anergy
Decreased circulating IgA level, Decreased circulating total IgM, Decreased specific antibody res... OMIM:616452
Immunodeficiency 35
Increased circulating IgE level OMIM:611521
Leber Congenital Amaurosis 2
Keratoconus, Cataract, Fundus atrophy, Pigmentary retinopathy OMIM:204100
Mastocytosis, Cutaneous
Cutaneous mastocytosis OMIM:154800
Immunodeficiency, Common Variable, 11
Increased circulating IgE level, Decreased circulating IgG level, Inflammation of the large intes... OMIM:615767
Corneal Dystrophy, Endothelial, X-Linked
Band keratopathy, Corneal dystrophy, Corneal opacity OMIM:300779
Immunodeficiency 72 With Autoinflammation
Herpes simplex encephalitis, Bronchiectasis, Recurrent otitis media, Increased circulating IgG le... OMIM:618982
Corneal Dystrophy, Posterior Polymorphous, 2
Corneal opacity, Corneal dystrophy OMIM:609140
Immunodeficiency With Hyper-Igm, Type 2
Decreased circulating IgA level, Decreased circulating IgG level, Impaired Ig class switch recomb... OMIM:605258
Edict Syndrome
Developmental cataract, Hypoplasia of the iris, Astigmatism, Microcornea, Keratoconus OMIM:614303
Leber Congenital Amaurosis 6
Keratoconus, Cataract, Attenuation of retinal blood vessels OMIM:613826
Mast Cell Sarcoma
Mastocytosis, Splenomegaly ORPHA:66661
Congenital Hereditary Endothelial Dystrophy Type Ii
Corneal stromal edema, Corneal opacity, Increased corneal thickness, Abnormal Descemet membrane m... ORPHA:293603
Immunodeficiency 48
Eczematoid dermatitis, Panhypogammaglobulinemia, Pneumonia OMIM:269840
Caspase 8 Deficiency
Eczema, Pneumonia, Decreased circulating IgA level, Decreased circulating IgG level, Reduced CD95... OMIM:607271
Immunodeficiency 50
Eczema, Decreased circulating antibody level OMIM:300988
Cataract 21, Multiple Types
Cerulean cataract, Cortical pulverulent cataract, Iris coloboma, Macular hypoplasia, Retinal deta... OMIM:610202
Agammaglobulinemia 8, Autosomal Dominant
Agammaglobulinemia, Recurrent otitis media OMIM:616941
Neutropenia, Chronic Familial
Periodontitis, Increased circulating antibody level OMIM:162700
Cirrhosis, Familial
Chronic active hepatitis, Increased circulating antibody level, Hepatitis OMIM:118900
Immunodeficiency, Common Variable, 7
Decreased specific pneumococcal antibody level, Decreased circulating total IgG, Reduced isohemag... OMIM:614699
Leber Congenital Amaurosis 8
Choriocapillaris atrophy, Cataract, Keratoconus OMIM:613835
Immunodeficiency 25
Erythroderma, Complete or near-complete absence of specific antibody response to tetanus vaccine,... OMIM:610163
Severe Combined Immunodeficiency, X-Linked
Agammaglobulinemia, Pneumonia, Decreased circulating IgA level, Reduced natural killer cell activ... OMIM:300400
Hyperimmunoglobulin G1(A1) Syndrome
Increased circulating IgA level, Increased circulating IgG level OMIM:144120
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
Decreased circulating IgG level OMIM:242870
Candidiasis, Familial, 2
Increased circulating IgE level, Chronic oral candidiasis OMIM:212050
Brittle Cornea Syndrome 2
Decreased corneal thickness, Flat cornea, Sclerocornea, Keratoglobus, Megalocornea, Keratoconus OMIM:614170
Agammaglobulinemia 7, Autosomal Recessive
Agammaglobulinemia OMIM:615214
Immunoglobulin A Deficiency 2
Decreased circulating IgA level OMIM:609529
Leber Congenital Amaurosis 7
Keratoconus, Cataract OMIM:613829
Vitreoretinal Degeneration, Snowflake Type
Retinal dots, Corneal guttata, Optically empty vitreous, Retinal detachment, Cataract, Snowflake ... OMIM:193230
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Sinusitis, Inflammatory abnormality of the skin, Lack of T cell function, Recurrent otitis media,... ORPHA:277
Persistent Polyclonal B-Cell Lymphocytosis
Decreased circulating total IgM OMIM:606445
Immunodeficiency 15B
Decreased circulating antibody level, Agammaglobulinemia OMIM:615592
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant
Increased circulating IgE level, Eczema, Thyroiditis OMIM:618985
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Increased circulating antibody level, Glomerulonephritis, Pneumonia OMIM:247800
Combined Immunodeficiency, X-Linked
Sinusitis, Decreased circulating IgG level, Otitis media, Pneumonia OMIM:312863
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Decreased circulating total IgM OMIM:610798
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Decreased circulating IgG level, Decreased circulating total IgM OMIM:618987
Immunodeficiency 70
Decreased circulating total IgA, Decreased circulating total IgG, Decreased circulating antibody ... OMIM:618969
Immune Deficiency Disease
Cholangitis, Fulminant hepatitis, Decreased circulating total IgM OMIM:242850
Ring Dermoid Of Cornea
Abnormality of the corneal limbus, Corneal astigmatism, Conjunctival dermolipoma, Abnormal conjun... OMIM:180550
Kimura Disease
Increased circulating IgE level ORPHA:482
Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis
Exudative retinal detachment, Retinal detachment, Retinal arterial macroaneurysms, Pulmonic stenosis OMIM:614224
Immunodeficiency, Common Variable, 1
Pneumonia, Impaired T cell function, Decreased circulating IgA level, Bronchiectasis, Decreased c... OMIM:607594
Immunoglobulin A Deficiency 1
Decreased circulating IgA level OMIM:137100
Agammaglobulinemia 4, Autosomal Recessive
Chronic sinusitis, Agammaglobulinemia, Recurrent pneumonia, Recurrent otitis media OMIM:613502
Leber Congenital Amaurosis 1
Keratoconus, Cataract, Fundus atrophy, Pigmentary retinopathy OMIM:204000
Immunodeficiency 33
Increased circulating IgA level, Decreased circulating total IgM OMIM:300636
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Eczema, Reduced antigen-specific T cell proliferation, Reduced delayed hypersensitivity, Increase... OMIM:617241
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Sinusitis, Atopic dermatitis, Decreased specific antibody response to polysaccharide vaccine, Rhi... ORPHA:70593
Agammaglobulinemia 6, Autosomal Recessive
Agammaglobulinemia, Chronic sinusitis, Recurrent otitis media, Recurrent pneumonia, Conjunctivitis OMIM:612692
Bullous Diffuse Cutaneous Mastocytosis
Cutaneous mastocytosis ORPHA:280785
Aggressive Systemic Mastocytosis
Leukocytosis, Neutropenia, Thrombocytopenia, Leukemia, Anemia, Abnormal mast cell morphology, Hep... ORPHA:98850
Immunodeficiency 89 And Autoimmunity
Bronchiectasis, Increased circulating IgA level, Increased circulating IgG level, Increased circu... OMIM:619632
Immunodeficiency 14B, Autosomal Recessive
Inflammation of the large intestine, Decreased circulating IgA level, Reduced natural killer cell... OMIM:619281
Transcobalamin Deficiency
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating antibody ... ORPHA:859
Focal Facial Dermal Dysplasia Type Iv
Abnormal mast cell morphology ORPHA:398189
Immunodeficiency, Common Variable, 2
Impaired T cell function, Decreased circulating IgA level, Bronchiectasis, Decreased circulating ... OMIM:240500
Corneal Dystrophy, Fuchs Endothelial, 1
Corneal degeneration, Corneal guttata, Descemet Membrane Folds, Corneal stromal edema, Corneal dy... OMIM:136800
Brittle Cornea Syndrome 1
Decreased corneal thickness, Mitral valve prolapse, Keratoglobus, Abnormal cornea morphology, Ker... OMIM:229200
Combined Immunodeficiency Due To Dock8 Deficiency
Atopic dermatitis, Pneumonia, Chronic otitis media, Increased circulating IgE level, Recurrent ba... ORPHA:217390
Myeloma, Multiple
Paraproteinemia OMIM:254500
Immunodeficiency 37
Decreased circulating antibody level, Infectious encephalitis, Colitis OMIM:616098
Leber Congenital Amaurosis
Keratoconus, Abnormality of retinal pigmentation, Abnormality of the optic disc, Cataract ORPHA:65
Panniculitis-Induced Localized Lipodystrophy
Inflammatory abnormality of the skin, Abnormal immunoglobulin level ORPHA:90159
Hyper-Ige Recurrent Infection Syndrome 4B, Autosomal Recessive
Eczema, Bronchiectasis, Recurrent otitis media, Keratitis, Increased circulating IgE level OMIM:618523
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Leukocytosis, Macrocytic anemia, Abnormally low T cell receptor excision circle level, Reduction ... OMIM:608203
Combined Cellular And Humoral Immune Defects With Granulomas
Decreased circulating IgG level OMIM:233650
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant
Eczematoid dermatitis, Chronic mucocutaneous candidiasis, Increased circulating IgE level, Recurr... OMIM:147060
Systemic Mastocytosis With Associated Hematologic Neoplasm
Leukocytosis, Chronic lymphatic leukemia, Normocytic anemia, Normochromic anemia, Chronic myelomo... ORPHA:98849
Inflammatory Skin And Bowel Disease, Neonatal, 1
Increased circulating IgE level, Blepharitis, Erythroderma, Pustule OMIM:614328
Immunodeficiency 60 And Autoimmunity
Bronchiectasis, Decreased circulating IgA level, Decreased circulating IgG level, Crohn's disease... OMIM:618394
Hypotrichosis Simplex Of The Scalp
Atopic dermatitis, Increased circulating IgE level, Allergic rhinitis ORPHA:90368
Erythema Elevatum Diutinum
Increased circulating antibody level, Skin rash ORPHA:90000
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Recurrent otitis media, Increased circulating IgM level, Increased circulating IgG level, Bronchi... OMIM:619220
Agammaglobulinemia 1, Autosomal Recessive
Sinusitis, Agammaglobulinemia, Pneumonia, Bronchiectasis, Decreased circulating antibody level, R... OMIM:601495
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Increased circulating IgE level ORPHA:1858
Mental Retardation, X-Linked, Syndromic, Chudley-Schwartz Type
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM OMIM:300861
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Psoriasiform dermatitis, Eczema, Bronchiectasis, Decreased circulating IgA level, Decreased circu... OMIM:616100
Cutaneous Mastocytosis, Conductive Hearing Loss And Microtia
Cutaneous mastocytosis OMIM:248910
Peeling Skin Syndrome 1
Increased circulating IgE level OMIM:270300
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Decreased circulating IgA level, Interstitial pneumonitis, Ulcerative colitis, Decreased circulat... OMIM:614878
Igg4-Related Aortitis
Increased circulating IgG4 level, Complement deficiency, Increased circulating IgE level, Increas... ORPHA:449400
Dystrophic Epidermolysis Bullosa Pruriginosa
Increased circulating IgE level ORPHA:89843
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Decreased circulating total IgA, Erythroderma, Pneumonia, Decreased circulating IgG level, Hepati... ORPHA:169160
Immunodeficiency, Common Variable, 12, With Autoimmunity
Bronchiectasis, Decreased circulating antibody level, Recurrent skin infections, Recurrent pneumo... OMIM:616576
Whim Syndrome 1
Decreased circulating IgG level, Decreased circulating antibody level, Bronchiectasis OMIM:193670
Immunodeficiency 67
Increased circulating IgE level OMIM:607676
Retinitis Pigmentosa
Optic atrophy, Abnormality of retinal pigmentation, Abnormal retinal vascular morphology, Catarac... ORPHA:791
Lymphoproliferative Syndrome, X-Linked, 2
Inflammation of the large intestine, Folliculitis, Hepatitis, Decreased circulating antibody leve... OMIM:300635
Myopia, High, With Cataract And Vitreoretinal Degeneration
Retinal detachment, Peripheral vitreoretinal degeneration, Cataract, Lens subluxation OMIM:614292
Congenital Primary Aphakia
Sclerocornea, Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segment of the eye, R... ORPHA:83461
Lattice Corneal Dystrophy Type I
Subepithelial corneal opacities, Decreased corneal sensation, Corneal stromal edema, Corneal scar... ORPHA:98964
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Decreased circulating IgA level, Decreased circulating IgG level, Chronic oral candidiasis, Otiti... ORPHA:275
Pulmonary Alveolar Proteinosis With Hypogammaglobulinemia
Decreased circulating antibody level, Intraalveolar phospholipid accumulation OMIM:618042
Immunodeficiency 43
Hypoproteinemia, Decreased circulating IgG level, Hypoalbuminemia, Bronchiectasis OMIM:241600
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome
Pustule, Myositis, Acne, Arthritis, Increased inflammatory response, Crohn's disease, Increased c... ORPHA:69126
X-Linked Lymphoproliferative Disease
Decreased circulating antibody level, Splenomegaly, Absent natural killer cells, Dysgammaglobulin... ORPHA:2442
Amoebic Keratitis
Corneal perforation, Decreased corneal sensation, Corneal stromal edema, Iris atrophy, Abnormal p... ORPHA:67043
Pulmonary Nodular Lymphoid Hyperplasia, Familial
Increased circulating antibody level, Rheumatoid arthritis OMIM:178610
Ectopia Lentis Et Pupillae
Retinal detachment, Persistent pupillary membrane, Cataract, Ectopia lentis OMIM:225200
Immunodeficiency 85 And Autoimmunity
Eczema, Erythroderma, Decreased circulating IgA level, Oligoarthritis, Decreased circulating IgG ... OMIM:619510
Brittle Cornea Syndrome
Decreased corneal thickness, Mitral valve prolapse, Corneal erosion, Corneal scarring, Keratoglob... ORPHA:90354
Immunodeficiency With Hyper-Igm, Type 1
Stomatitis, Decreased circulating IgA level, Impaired memory B cell generation, Decreased circula... OMIM:308230
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM OMIM:611926
Immunodeficiency 81
Decreased proportion of class-switched memory B cells, Recurrent cutaneous abscess formation, Abs... OMIM:619374
Corneal Dystrophy, Fuchs Endothelial, 6
Corneal guttata, Corneal stromal edema, Corneal dystrophy, Keratitis, Abnormal Descemet membrane ... OMIM:613270
Immunodeficiency 92
Cholangitis, Pneumonia, Decreased circulating IgA level, Decreased circulating IgG level, Esophag... OMIM:619652
Immunodeficiency, Common Variable, 10
Psoriasiform dermatitis, Decreased circulating IgA level, Decreased circulating IgG level, Recurr... OMIM:615577
Immunodeficiency 57 With Autoinflammation
Inflammation of the large intestine, Bronchiectasis, Decreased circulating antibody level, Gastri... OMIM:618108
Epilepsy-Telangiectasia Syndrome
Decreased circulating IgA level, Decreased circulating antibody level ORPHA:1951
Dermatitis, Atopic
Keratoconus, Cataract, Conjunctivitis OMIM:603165
Immunodeficiency 64
Defective T cell proliferation, Bronchiectasis, Increased circulating IgA level, Decreased circul... OMIM:618534
Netherton Syndrome
Increased circulating IgE level, Decreased circulating IgG level, Allergic rhinitis, Erythroderma OMIM:256500
Microcephalic Primordial Dwarfism, Toriello Type
Decreased circulating IgG level, Decreased circulating total IgM ORPHA:2643
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Erythroderma, Increased circulating IgA level, Decreased lymphocyte proliferation in response to ... ORPHA:169154
Immunodeficiency 27A
Pneumonia, Salmonella osteomyelitis, Increased circulating IgG level, Increased inflammatory resp... OMIM:209950
Arthrogryposis, Distal, Type 5
Keratoglobus, Astigmatism, Abnormality of retinal pigmentation, Keratoconus OMIM:108145
Keratoconus Posticus Circumscriptus
Keratoconus, Central posterior corneal opacity OMIM:244600
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Psoriasiform dermatitis, Eczema, Erythroderma, Decreased circulating IgA level, Chronic oral cand... OMIM:606367
Mastocytosis
Chronic leukemia, Mastocytosis, Acute leukemia, Splenomegaly ORPHA:98292
Microcephalic Primordial Dwarfism, Toriello Type
Decreased circulating IgG level, Decreased circulating total IgM OMIM:251190
Netherton Syndrome
Eczema, Erythroderma, Decreased circulating antibody level, Increased circulating IgE level, Skin... ORPHA:634
Thrombocytopenia 1
Increased circulating IgA level, Increased circulating IgE level, Eczema OMIM:313900
Ch├ędiak-Higashi Syndrome
Abnormal natural killer cell morphology, Neutropenia, Abnormal platelet function, Thrombocytopeni... ORPHA:167
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Pneumonia, Decreased circulating IgA level, Abnormal immunoglobulin level, Decreased circulating ... ORPHA:276
Wiskott-Aldrich Syndrome, Autosomal Dominant
Sinusitis, Eczema, Inflammation of the large intestine, Pneumonia, Increased circulating IgA leve... OMIM:600903
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Eczema, Erythroderma, Hepatitis, Arthritis, Increased circulating IgE level, Glomerulonephritis OMIM:304790
Idiopathic Chronic Eosinophilic Pneumonia
Atopic dermatitis, Increased circulating IgE level, Elevated circulating C-reactive protein conce... ORPHA:2902
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Sinusitis, Pneumonia, Decreased circulating IgA level, Increased circulating IgE level, Absent sp... OMIM:102700
Okur-Chung Neurodevelopmental Syndrome
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating antibody ... OMIM:617062
Immunodeficiency, Common Variable, 8, With Autoimmunity
Inflammation of the large intestine, Decreased specific antibody response to vaccination, Pneumon... OMIM:614700
Myotonic Dystrophy 2
Elevated circulating creatine kinase concentration, Decreased circulating IgG level, Decreased ci... OMIM:602668
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Pustule, Lack of T cell function, Decreased circulating IgG level, Partial IgA deficiency, Decrea... ORPHA:35078
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Decreased circulating IgA level, Lymphadenitis, Decreased circulating IgG level, Decreased circul... ORPHA:331206
Aspergillosis
Sinusitis, Infectious encephalitis, Pneumonia, Bronchiectasis, Hepatitis, Osteomyelitis, Keratiti... ORPHA:1163
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Retinal degeneration, Keratoconus, Patent foramen ovale ORPHA:542306
Pgm3-Cdg
Atopic dermatitis, Eczema, Allergic rhinitis, Bronchiectasis, Increased circulating IgA level, Ch... ORPHA:443811
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Atopic dermatitis, Cholangitis, Psoriasiform dermatitis, Decreased specific pneumococcal antibody... ORPHA:183675
Pyoderma Gangrenosum
Inflammation of the large intestine, Pustule, Myositis, Increased circulating antibody level, Rhe... ORPHA:48104
Hennekam-Beemer Syndrome
Mastocytosis ORPHA:2135
Urban-Rogers-Meyer Syndrome
Increased circulating IgE level ORPHA:3409
Ectodermal Dysplasia And Immunodeficiency 1
Increased circulating IgA level, Reduced natural killer cell activity, Dysgammaglobulinemia, Incr... OMIM:300291
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome
Decreased corneal thickness, Abnormality of the optic disc, Congenital stationary night blindness ORPHA:293967
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Sinusitis, Pneumonia, Bronchiectasis, Decreased circulating IgA level, Increased circulating IgM ... OMIM:242860
Immunodeficiency 23
Eczema, Allergic rhinitis, Bronchiectasis, Increased circulating IgG level, Chronic mucocutaneous... OMIM:615816
Subcorneal Pustular Dermatosis
Increased circulating antibody level, Rheumatoid arthritis, Pustule ORPHA:48377
Autosomal Dominant Hyper-Ige Syndrome
Eczema, Chronic otitis media, Osteomyelitis, Increased circulating IgE level, Skin rash ORPHA:2314
Autoinflammation With Arthritis And Dyskeratosis
Keratoconjunctivitis sicca, Increased circulating IgA level, Increased circulating IgG level, Pun... OMIM:617388
Anterior Segment Dysgenesis 6
Corneal opacity, Posterior synechiae of the anterior chamber, Abnormal Descemet membrane morpholo... OMIM:617315
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Inflammatory abnormality of the skin, Eczematoid dermatitis, Eczema, Psoriasiform dermatitis, Tub... ORPHA:37042
Corneal Dystrophy, Posterior Polymorphous, 1
Polymorphous posterior corneal dystrophy, Thinning of Descemet membrane, Iris atrophy, Corneal op... OMIM:122000
Congenital Disorder Of Glycosylation, Type Iic
Reduction of neutrophil motility, Neutrophilia OMIM:266265
Igg4-Related Kidney Disease
Tubulointerstitial nephritis, Elevated circulating C-reactive protein concentration, Increased ci... ORPHA:449395
Autoimmune Lymphoproliferative Syndrome
Decreased lymphocyte apoptosis, Increased circulating IgA level, Increased circulating IgG level,... OMIM:601859
Lichtenstein Syndrome
Decreased circulating IgA level OMIM:246550
Calcific Aortic Disease With Immunologic Abnormalities, Familial
Increased circulating antibody level OMIM:114065
Necrobiosis Lipoidica
Granuloma, Abnormality of neutrophil physiology ORPHA:542592
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Impaired neutrophil bactericidal activity, Spontaneous hemolytic crises, Nonspherocytic hemolytic... OMIM:613470
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Decreased circulating IgA level OMIM:215250
Dyskeratosis Congenita, Autosomal Recessive 5
Decreased circulating antibody level, Bone marrow hypocellularity, Colitis OMIM:615190
Mental Retardation, Keratoconus, Febrile Seizures, And Sinoatrial Block
Keratoconus OMIM:609438
Autoimmune Lymphoproliferative Syndrome
Glomerulonephritis, Increased circulating IgA level, Decreased circulating IgG level, Hepatitis, ... ORPHA:3261
Selective Igm Deficiency
Non-infectious meningitis, Fasciitis, Crohn's disease, Decreased circulating total IgM, Allergic ... ORPHA:331235
Igg4-Related Submandibular Gland Disease
Cholangitis, Prostatitis, Increased circulating IgG4 level, Increased circulating IgG level, Comp... ORPHA:449432
Transcobalamin Ii Deficiency
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM OMIM:275350
Microtriplication 11Q24.1
Keratoconus ORPHA:289522
Xq28 (MECP2) duplication
Decreased circulating IgA level DECIPHER:45
Autoimmune Hepatitis
Inflammation of the large intestine, Sclerosing cholangitis, Fulminant hepatitis, Increased circu... ORPHA:2137
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Defective T cell proliferation, Increased circulating IgG level, Eosinophilic infiltration of the... OMIM:618213
Optic Atrophy-Intellectual Disability Syndrome
Optic disc hypoplasia, Optic nerve hypoplasia, Optic atrophy, Keratoconus ORPHA:401777
Boutonneuse Fever
Increased circulating IgM level, Increased circulating IgG level, Maculopapular exanthema, Skin rash ORPHA:83313
Autoimmune Lymphoproliferative Syndrome, Type Iia
Decreased lymphocyte apoptosis, Increased circulating IgA level, Nephritis, Increased circulating... OMIM:603909
Primary Intestinal Lymphangiectasia
Hypoproteinemia, Decreased circulating IgA level, Decreased circulating IgG level, Decreased circ... ORPHA:90362
Sting-Associated Vasculopathy, Infantile-Onset
Pustule, Myositis, Increased circulating IgA level, Increased circulating IgG level, Malar rash, ... OMIM:615934
Bloom Syndrome
Bronchiectasis, Decreased circulating IgA level, Decreased circulating IgG level, Malar rash, Dec... OMIM:210900
Wiskott-Aldrich Syndrome
Eczema, Inflammation of the large intestine, Increased circulating IgA level, Recurrent otitis me... OMIM:301000
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Keratoconus, Conjunctivitis OMIM:242150
Ataxia-Telangiectasia
Sinusitis, Bronchiectasis, Decreased circulating IgA level, Defective B cell differentiation, Dec... OMIM:208900
Combined Immunodeficiency With Faciooculoskeletal Anomalies
Psoriasiform dermatitis, Decreased circulating total IgA, Decreased specific antibody response to... ORPHA:221139
Riddle Syndrome
Pneumonia, Decreased circulating IgA level, Decreased circulating IgG level, Chronic sinusitis, A... ORPHA:420741
Costello Syndrome
Hypertrophic cardiomyopathy, Ventricular septal defect, Mitral valve prolapse, Pulmonic stenosis,... ORPHA:3071
Igg4-Related Ophthalmic Disease
Sinusitis, Cholangitis, Prostatitis, Increased circulating IgG4 level, Pancreatitis, Keratitis, I... ORPHA:449563
Lead Poisoning
Increased circulating IgE level, Tubulointerstitial nephritis, Abnormality of humoral immunity, S... ORPHA:330015
Chediak-Higashi Syndrome
Neutropenia, Leukopenia, Abnormal dense granules, Giant neutrophil granules, Anemia, Splenomegaly... OMIM:214500
Tempi Syndrome
Increased circulating IgG level ORPHA:284227
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Abscess, Splenomegaly, Perianal abscess, Hepatosplenomegaly, Impaired oxidative burst, Lymphopeni... OMIM:618935
Rasmussen Subacute Encephalitis
Decreased circulating total IgA ORPHA:1929
Alagille Syndrome
Ventricular septal defect, Corneal dystrophy, Abnormal pupil morphology, Atrial septal defect, Ke... ORPHA:52
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Decre... ORPHA:508533
Warburg-Cinotti Syndrome
Decreased corneal thickness, Symblepharon, Retinal dystrophy, Limbal stem cell deficiency, Cornea... OMIM:618175
Smith-Kingsmore Syndrome
Decreased circulating IgA level OMIM:616638
Osteopetrosis, Autosomal Recessive 7
Decreased circulating IgA level, Decreased circulating IgG level, Recurrent pneumonia, Decreased ... OMIM:612301
Secondary Intestinal Lymphangiectasia
Constrictive pericarditis, Decreased prealbumin level, Decreased circulating IgA level, Reduced c... ORPHA:90363
Ataxia-Telangiectasia With Generalized Skin Pigmentation And Early Death
Decreased circulating IgA level, Elevated alpha-fetoprotein OMIM:208910
Lacrimoauriculodentodigital Syndrome
Keratoconjunctivitis sicca, Decreased corneal sensation, Recurrent corneal erosions, Limbal stem ... ORPHA:2363
Trichinellosis
Increased circulating IgE level, Skin rash, Conjunctivitis ORPHA:863
Immunodeficiency 82 With Systemic Inflammation
Hypoalbuminemia, Decreased circulating total IgA, Elevated circulating C-reactive protein concent... OMIM:619381
Angelman Syndrome
Optic atrophy, Optic disc pallor, Iris hypopigmentation, Astigmatism, Keratoconus ORPHA:72
Nail-Patella Syndrome
Lester's sign, Microphakia, Antecubital pterygium, Cataract, Microcornea, Keratoconus OMIM:161200
Gapo Syndrome
Optic atrophy, Keratoconus ORPHA:2067
Arterial Tortuosity Syndrome
Ventricular hypertrophy, Aortic valve stenosis, Keratoconus OMIM:208050
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Decreased circulating IgA level ORPHA:457485
Bloom Syndrome
Pneumonia, Decreased circulating IgA level, Cheilitis, Decreased circulating IgG level, Decreased... ORPHA:125
Mogs-Cdg
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating antibody ... ORPHA:79330
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Decreased circulating IgA level, Hashimoto thyroiditis, Hepatitis OMIM:613385
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Inflammation of the large intestine, Interface hepatitis, Granulomatous cholangitis, Increased ci... ORPHA:562639
Celiac Disease, Susceptibility To, 1
Eczema, Stomatitis, Decreased circulating IgA level, Thyroiditis, Recurrent aphthous stomatitis OMIM:212750
Arterial Tortuosity Syndrome
Dilated cardiomyopathy, Myocarditis, Hypertrophic cardiomyopathy, Keratoglobus, Abnormal myocardi... ORPHA:3342
Immunodeficiency 47
Decreased circulating total IgA, Decreased circulating total IgG, Decreased circulating antibody ... OMIM:300972
Congenital Disorder Of Glycosylation, Type Ia
Decreased circulating IgA level, Decreased circulating IgG level, Hypoalbuminemia OMIM:212065
Brucellosis
Myocarditis, Pericarditis, Infectious encephalitis, Pneumonia, Endocarditis, Hip osteoarthritis, ... ORPHA:1304
Lipodystrophy, Congenital Generalized, Type 4
Decreased circulating IgA level, Elevated circulating creatine kinase concentration OMIM:613327
Multiple Myeloma
Increased circulating IgA level, Hyperproteinemia, Decreased circulating antibody level, Increase... ORPHA:29073
Gapo Syndrome
Optic atrophy, Keratoconus OMIM:230740
Dubowitz Syndrome
Decreased circulating IgA level, Otitis media, Decreased circulating IgG level, Eczema OMIM:223370
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1
Microcornea, Retinal detachment, Keratoconus OMIM:225400
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Splenomegaly, Impaired oxidative burst, Rectal abscess, Granulomatosis, Liver abscess OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Splenomegaly, Impaired oxidative burst, Rectal abscess, Granulomatosis, Liver abscess OMIM:233710
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Splenomegaly, Impaired oxidative burst, Rectal abscess, Granulomatosis, Liver abscess OMIM:233690
Granulomatous Disease, Chronic, X-Linked
Splenomegaly, Impaired oxidative burst, Rectal abscess, Granulomatosis, Liver abscess OMIM:306400
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Decreased circulating IgA level, Decreased circulating total IgM ORPHA:369837
Simpson-Golabi-Behmel Syndrome
Increased circulating IgE level ORPHA:373
Monosomy 18Q
Decreased circulating IgA level ORPHA:1600
Leukocyte Adhesion Deficiency
Leukocytosis, Thrombocytosis, Polycythemia, Bone marrow hypocellularity, Acute myeloid leukemia, ... ORPHA:2968
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Seborrheic dermatitis, Eczema, Superficial dermal perivascular inflammatory infiltrate, Decreased... ORPHA:83617
Viss Syndrome
Atopic dermatitis, Eczema, Decreased circulating IgA level, Increased circulating IgG level, Chro... OMIM:619472
Ehlers-Danlos Syndrome, Vascular Type
Mitral valve prolapse, Keratoconus OMIM:130050
Hypermobile Ehlers-Danlos Syndrome
Keratoconjunctivitis sicca, Keratoconus ORPHA:285
Vascular Ehlers-Danlos Syndrome
Abnormal pupil morphology, Abnormal heart valve morphology, Mitral valve prolapse, Keratoconus ORPHA:286

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 Hrh4

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 Hrh4.

No publications found that use IMPC mice or data for Hrh4.

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MGI Allele Allele Type Produced
Hrh4tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Hrh4tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Hrh4tm1b(EUCOMM)Hmgu Reporter-tagged deletion allele (with selection cassette) Mice

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