Gene Summary

Name:
keratinocyte expressed, proline-rich
Synonyms:
1110001M24Rik

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 mean corpuscular hemoglobin Kprpem1(IMPC)Mbp HOM Early adult 9.11×10-05
increased mean corpuscular hemoglobin concentration Kprpem1(IMPC)Mbp HOM Early adult 2.55×10-05

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Viewing: all phenotypes
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Viewing: all phenotypes

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.

Phenotype associated images not available

Human diseases caused by Kprp 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 Kprp by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Hemoglobin-Delta locus
Anemia, Imbalanced hemoglobin synthesis OMIM:142000
Atr-16 syndrome
Abnormal erythrocyte morphology DECIPHER:65
Hemoglobin E-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin ORPHA:231249
Acetophenetidin Sensitivity
Methemoglobinemia, Hemolytic anemia OMIM:200300
Diamond-Blackfan Anemia-Like
Steroid-responsive anemia, Pure red cell aplasia OMIM:617911
Hemoglobin D Disease
Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno... ORPHA:90039
Delta-Beta-Thalassemia
Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231237
Diamond-Blackfan Anemia 19
Anemia, Erythroid hypoplasia, Steroid-responsive anemia OMIM:618312
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Transient Erythroblastopenia Of Childhood
Anemia, Transient erythroblastopenia OMIM:227050
Palmoplantar Keratoderma, Epidermolytic, 1
Increased circulating IgE level, Plantar hyperkeratosis, Palmoplantar hyperkeratosis, Palmar hype... OMIM:144200
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Splenomegaly, Microcytic anemia, Abnormal hemoglobin ORPHA:231242
Hemoglobin H Disease
Splenomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin OMIM:613978
Palmoplantar Keratoderma, Norrbotten Recessive Type
Recurrent cutaneous fungal infections, Palmoplantar keratoderma, Hyperkeratosis OMIM:244850
Beta-Thalassemia, Dominant Inclusion Body Type
Persistence of hemoglobin F, Microcytic anemia, Splenomegaly, Erythrocyte inclusion bodies, Incre... OMIM:603902
Alpha-Thalassemia Myelodysplasia Syndrome
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia OMIM:300448
Anemia, Sideroblastic, 4
Sideroblastic anemia, Abnormal erythrocyte morphology OMIM:182170
Beta-Thalassemia
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Alpha-Thalassemia
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:604131
Ichthyosis, Lamellar, Autosomal Dominant
Pruritus, Hyperkeratosis OMIM:146750
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections
Decreased circulating IgG level, Atopic dermatitis, Cutaneous abscess, Increased circulating IgE ... OMIM:618944
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Splenomegaly, Thrombocytopenia, Abnormal hemoglobin ORPHA:231393
Hypotrichosis Simplex Of The Scalp
Allergic rhinitis, Atopic dermatitis, Increased circulating IgE level, Parakeratosis, Pruritus, H... ORPHA:90368
Verrucous Hemangioma
Hyperkeratotic papule, Inflammatory abnormality of the skin ORPHA:464318
Familial Reactive Perforating Collagenosis
Hyperkeratotic papule, Inflammatory abnormality of the skin, Maculopapular exanthema, Crusting er... ORPHA:79147
Dystrophic Epidermolysis Bullosa Pruriginosa
Increased circulating IgE level, Pruritus, Hyperkeratosis ORPHA:89843
Acne Inversa, Familial, 3
Chronic furunculosis, Perifolliculitis, Acne inversa, Recurrent cutaneous abscess formation OMIM:613737
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Anemia, Splenomegaly, Persistence of hemoglobin F ORPHA:46532
Ige Responsiveness, Atopic
Increased circulating IgE level, Allergic rhinitis, Eczematoid dermatitis OMIM:147050
Hemoglobin E Disease
Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Splenomega... ORPHA:2133
Tn Polyagglutination Syndrome
Abnormal erythrocyte morphology OMIM:300622
Deafness, Neural, With Atypical Atopic Dermatitis
Increased circulating IgE level, Late onset atopic dermatitis OMIM:221700
Porokeratosis Of Mibelli
Pruritus, Hyperkeratosis ORPHA:735
Heinz Body Anemias
Heinz bodies, Nonspherocytic hemolytic anemia, Heinz body anemia OMIM:140700
Immunodeficiency 11B With Atopic Dermatitis
Pneumonia, Atopic dermatitis, Bronchiectasis, Increased circulating IgE level, Disseminated mollu... OMIM:617638
Immunodeficiency 51
Pneumonia, Folliculitis, Chronic mucocutaneous candidiasis, Eczematoid dermatitis, Pustular rash,... OMIM:613953
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease
Acne inversa, Chronic furunculosis, Follicular hyperkeratosis, Perifolliculitis, Recurrent cutane... OMIM:613736
Hereditary Palmoplantar Keratoderma, Gamborg-Nielsen Type
Diffuse palmoplantar hyperkeratosis, Hyperkeratosis with erythema ORPHA:86923
Palmoplantar Keratoderma, Nonepidermolytic, Focal 1
Follicular hyperkeratosis, Perioral hyperkeratosis, Palmoplantar keratoderma OMIM:613000
Epidermolysis Bullosa Simplex 1C, Localized
Hyperkeratosis OMIM:131800
Ichthyosis Hystrix, Lambert Type
Orthokeratotic hyperkeratosis, Hyperkeratosis OMIM:146600
Adenylate Kinase Deficiency, Hemolytic Anemia Due To
Hemolytic anemia, Reduced erythrocyte adenylate kinase activity OMIM:612631
Netherton Syndrome
Allergic rhinitis, Decreased circulating IgG level, Eczematoid dermatitis, Angioedema, Hypernatre... OMIM:256500
Cyanosis, Transient Neonatal
Anemia, Methemoglobinemia, Reticulocytosis OMIM:613977
Chilblain Lupus
Discoid lupus rash, Inflammatory abnormality of the skin, Malar rash, Skin rash, Increased circul... ORPHA:90280
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Herpes simplex encephalitis, Molluscum contagiosum, Increased circulating IgE level, Recurrent ot... OMIM:618982
Diamond-Blackfan Anemia 3
Increased mean corpuscular volume, Elevated red cell adenosine deaminase activity, Persistence of... OMIM:610629
Epidermolytic Hyperkeratosis 2A, Autosomal Dominant
Palmoplantar keratoderma, Generalized hyperkeratosis, Cobblestone-like hyperkeratosis, Palmoplant... OMIM:620150
Palmoplantar Keratoderma-Deafness Syndrome
Palmoplantar keratoderma, Hyperkeratosis ORPHA:2202
Ichthyosis Hystrix Of Curth-Macklin
Diffuse palmoplantar hyperkeratosis, Recurrent skin infections, Hyperkeratosis ORPHA:79503
Reticulate Acropigmentation Of Kitamura
Hyperkeratosis OMIM:615537
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Decreased circulating IgG level, Inflammation of the large intestine, Chronic mucocutaneous candi... ORPHA:98813
Epidermolysis Bullosa Dystrophica, Pretibial
Pruritus, Hyperkeratosis OMIM:131850
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Atopic dermatitis, Recurrent pneumonia, Chronic mucocutaneous candidiasis, Eczematoid dermatitis,... OMIM:618282
Immunodeficiency 25
Recurrent pneumonia, Increased circulating IgE level, Complete or near-complete absence of specif... OMIM:610163
Aquagenic Palmoplantar Keratoderma
Atopic dermatitis, Palmoplantar keratoderma, Orthokeratotic hyperkeratosis, Palmar pruritus, Edema ORPHA:498359
Hyperkeratosis Lenticularis Perstans
Hyperkeratosis lenticularis perstans OMIM:144150
Angioma Serpiginosum, Autosomal Dominant
Hyperkeratosis OMIM:106050
Papillomatosis, Confluent And Reticulated
Hyperkeratosis OMIM:167900
Erythrokeratodermia Variabilis Et Progressiva 5
Palmoplantar hyperkeratosis, Hyperkeratosis OMIM:617756
Congenital Amegakaryocytic Thrombocytopenia
Anemia, Abnormal hemoglobin, Thrombocytopenia ORPHA:3319
Palmoplantar Keratoderma, Punctate Type Iii
Hyperkeratosis OMIM:101850
Dermatoleukodystrophy
Hyperkeratosis ORPHA:1659
Inflammatory Skin And Bowel Disease, Neonatal, 2
Recurrent pneumonia, Increased circulating IgE level, Pustule, Polyhydramnios, Dehydration OMIM:616069
Severe Combined Immunodeficiency, X-Linked
Pneumonia, Decreased circulating IgG level, Decreased circulating IgE, Recurrent pneumonia, Decre... OMIM:300400
Ichthyosis, Congenital, Autosomal Recessive 13
Palmoplantar hyperkeratosis, Hyperkeratosis OMIM:617574
Congenital Panfollicular Nevus
Hyperkeratosis ORPHA:139414
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Palmoplantar keratoderma, Orthokeratosis, Increased circulating IgE level, Psoriasiform dermatiti... OMIM:615508
Woronets Trait
Red blood cell keratocytosis OMIM:194320
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Eczematoid dermatitis, Increased circulating IgE level, Reduced delayed hypersensitivity, Reduced... OMIM:617241
Epidermolysis Bullosa Simplex 4, Localized Or Generalized Intermediate, Autosomal Recessive
Hyperkeratosis OMIM:615028
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Atopic dermatitis, Decreased circulating IgG level, Recurrent pneumonia, Chronic mucocutaneous ca... OMIM:619752
Immunodeficiency With Hyper-Igm, Type 3
Decreased circulating IgG level, Impaired memory B cell generation, Decreased circulating IgA lev... OMIM:606843
Intellectual Developmental Disorder, Fra12A Type
Erythroderma, Hyperkeratosis OMIM:136630
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Abnormality of humoral immunity, Inflammatory abnormality of the skin, Recurrent pneumonia, Lack ... ORPHA:277
Ulerythema Ophryogenesis
Hyperkeratotic papule, Contact dermatitis, Acne, Follicular hyperkeratosis ORPHA:3406
Hyper-Ige Syndrome 6, Autosomal Dominant, With Recurrent Infections
Increased circulating IgE level, Atopic dermatitis, Eosinophilic infiltration of the esophagus, R... OMIM:620532
Erythrokeratodermia Variabilis Et Progressiva 6
Parakeratosis, Pruritus, Superficial dermal perivascular inflammatory infiltrate OMIM:618531
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections
Keratitis, Eczematoid dermatitis, Increased circulating IgE level, Recurrent otitis media, Bronch... OMIM:618523
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant
Increased circulating IgE level, Eczematoid dermatitis, Thyroiditis OMIM:618985
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Poikilocytosis, Oval macrocytosis, Anemia of inadequate production, Anisocytosis OMIM:603529
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Splenic infarction, Persistence of hemoglobin F, Increased red cell sickling tendency, Reticulocy... ORPHA:251380
Ichthyosis, Congenital, Autosomal Recessive 10
Palmoplantar keratoderma, Erythroderma, Orthokeratotic hyperkeratosis, Hyperkeratosis OMIM:615024
Immunodeficiency 103, Susceptibility To Fungal Infections
Increased circulating IgE level, Deep dermatophytosis, Chronic oral candidiasis OMIM:212050
Immunodeficiency, Common Variable, 11
Increased circulating IgE level, Decreased circulating IgG level, Inflammation of the large intes... OMIM:615767
Combined Immunodeficiency Due To Dock8 Deficiency
Pneumonia, Atopic dermatitis, Increased circulating IgE level, Recurrent sinusitis, Chronic otiti... ORPHA:217390
Benign Cephalic Histiocytosis
Inflammatory abnormality of the skin, Skin rash ORPHA:157997
Ichthyosis, Congenital, Autosomal Recessive 14
Orthokeratotic hyperkeratosis, Pruritus, Hyperkeratosis OMIM:617571
Hemoglobin--Variants For Which The Chain Carrying The Mutation Is Unknown Or Uncertain
Compensated hemolytic anemia OMIM:142309
Anemia, Nonspherocytic Hemolytic, Associated With Abnormality Of Red Cell Membrane
Nonspherocytic hemolytic anemia OMIM:206300
Hemolytic Anemia With Thermal Sensitivity Of Red Cells
Congenital hemolytic anemia OMIM:235370
6-Phosphogluconolactonase Deficiency
Hemolytic anemia OMIM:172150
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Allergic rhinitis, Atopic dermatitis, Recurrent pneumonia, Eczematoid dermatitis, Cutaneous absce... OMIM:243700
Adenosine Triphosphate, Elevated, Of Erythrocytes
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia OMIM:102900
Mal De Meleda
Nonepidermolytic palmoplantar hyperkeratosis, Inflammatory abnormality of the skin, Palmoplantar ... ORPHA:87503
Peeling Skin Syndrome 1
Increased circulating IgE level, Pruritus, Erythroderma OMIM:270300
Erythrokeratodermia Variabilis Et Progressiva 1
Patchy palmoplantar hyperkeratosis, Erythroderma, Generalized hyperkeratosis OMIM:133200
Pityriasis Rubra Pilaris
Subungual hyperkeratosis, Palmoplantar keratoderma, Eczematoid dermatitis, Pustule, Erythroderma,... ORPHA:2897
Alpha-Thalassemia-Myelodysplastic Syndrome
Acute leukemia, HbH hemoglobin, Microcytic anemia, Splenomegaly, Neutropenia, Thrombocytopenia ORPHA:231401
Kerion Celsi
Inflammatory abnormality of the skin, Recurrent skin infections, Recurrent cutaneous abscess form... ORPHA:499
Iga Pemphigus
Cutaneous abscess, Neutrophilic infiltration of the skin, Pustule, Increased circulating IgA leve... ORPHA:555905
Inflammatory Skin And Bowel Disease, Neonatal, 1
Pustule, Increased circulating IgE level, Erythroderma, Blepharitis OMIM:614328
Immunodeficiency 35
Increased circulating IgE level OMIM:611521
Acquired Ichthyosis
Pruritus, Recurrent skin infections, Palmoplantar keratoderma, Hyperkeratosis ORPHA:454
Immunodeficiency 89 And Autoimmunity
Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 27 concentrati... OMIM:619632
Elastosis Perforans Serpiginosa
Crusting erythematous dermatitis, Hyperkeratotic papule ORPHA:79148
Immunodeficiency 114, Folate-Responsive
Increased circulating IgE level, Atopic dermatitis, Decreased circulating IgG level OMIM:620603
Seborrhea-Like Dermatitis With Psoriasiform Elements
Seborrheic dermatitis, Hyperkeratosis OMIM:610227
Netherton Syndrome
Eczematoid dermatitis, Increased circulating IgE level, Skin rash, Erythroderma, Decreased circul... ORPHA:634
Peeling Skin Syndrome 6
Atopic dermatitis, Pruritus, Orthokeratosis, Parakeratosis OMIM:618084
Psoriasis 2
Parakeratosis, Psoriasiform dermatitis, Hyperkeratosis OMIM:602723
Erythrokeratodermia Variabilis Et Progressiva 4
Palmoplantar hyperkeratosis, Hyperkeratosis OMIM:617526
Ichthyosis With Erythrokeratoderma
Palmoplantar keratoderma, Diffuse palmoplantar hyperkeratosis, Parakeratosis, Erythroderma, Palmo... OMIM:620507
Immunodeficiency With Hyper-Igm, Type 5
Decreased circulating IgG level, Decreased circulating IgA level, Impaired Ig class switch recomb... OMIM:608106
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Decreased lymphocyte proliferation in response to mitogen, Increased circulating IgE level, Incre... ORPHA:169154
Olmsted Syndrome, X-Linked
Subungual hyperkeratosis, Posterior blepharitis, Palmoplantar keratoderma, Parakeratosis, Palmopl... OMIM:300918
Caspase 8 Deficiency
Pneumonia, Decreased circulating IgG level, Eczematoid dermatitis, Decreased circulating IgA leve... OMIM:607271
Pruritic Urticarial Papules And Plaques Of Pregnancy
Pruritus on foot, Eczematoid dermatitis, Pruritis on breast, Parakeratosis, Pruritis on hand, Pru... ORPHA:64745
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Decreased specific anti-polysaccharide antibody level, Eczematoid dermatitis, Decreased lymphocyt... OMIM:606367
Immunodeficiency With Hyper-Igm, Type 1
Decreased circulating IgG level, Decreased circulating IgE, Impaired memory B cell generation, He... OMIM:308230
Histiocytosis, Familial Lipochrome
Increased circulating antibody level OMIM:235900
Immunodeficiency 85 And Autoimmunity
Decreased circulating IgG level, Eczematoid dermatitis, Decreased circulating IgA level, Oligoart... OMIM:619510
Olmsted Syndrome 2
Cheilitis, Palmoplantar keratoderma, Perioral hyperkeratosis, Parakeratosis, Palmoplantar hyperke... OMIM:619208
Anemia, Congenital Dyserythropoietic, Type Iiib, Autosomal Recessive
Macrocytic dyserythropoietic anemia, Macrocytic anemia OMIM:619789
Ichthyosis, Hystrix-Like, With Deafness
Palmoplantar keratoderma, Cobblestone-like hyperkeratosis, Punctate keratitis, Palmoplantar hyper... OMIM:602540
Kimura Disease
Increased circulating IgE level ORPHA:482
Immunodeficiency With Hyper-Igm, Type 2
Decreased circulating IgG level, Decreased circulating IgA level, Complete or near-complete absen... OMIM:605258
Lymphatic Malformation 4
Hyperkeratosis, Pedal edema, Lymphedema OMIM:615907
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Elevated red cell adenosine deaminase activity, Increased mean corpuscular volume, Macrocytic ane... OMIM:300946
Infantile Digital Fibromatosis
Parakeratosis, Hyperkeratosis ORPHA:199267
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Increased circulating IgE level ORPHA:1858
Agammaglobulinemia 8B, Autosomal Recessive
Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine... OMIM:619824
Immunodeficiency 23
Allergic rhinitis, Chronic mucocutaneous candidiasis, Eczematoid dermatitis, Molluscum contagiosu... OMIM:615816
Pgm3-Cdg
Allergic rhinitis, Atopic dermatitis, Bone marrow hypocellularity, Bronchiectasis, Recurrent pneu... ORPHA:443811
Iron-Refractory Iron Deficiency Anemia
Poikilocytosis, Hypochromic microcytic anemia, Anisocytosis OMIM:206200
Neutropenia, Chronic Familial
Periodontitis, Increased circulating antibody level OMIM:162700
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Eczematoid dermatitis, Hepatitis, Increased circulating IgE level, Erythroderma, Glomerulonephrit... OMIM:304790
Igg4-Related Aortitis
Increased circulating IgE level, Reduced circulating complement concentration, Increased circulat... ORPHA:449400
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis
Hemolytic anemia, Anemia of inadequate production, Elliptocytosis OMIM:166910
Immunodeficiency 66
Pustule, Defective T cell proliferation, Recurrent skin infections OMIM:618847
Autosomal Dominant Epidermolytic Ichthyosis
Palmoplantar keratoderma, Erythroderma, Hyperkeratosis ORPHA:312
Angioma Serpiginosum, X-Linked
Hyperkeratosis OMIM:300652
Spherocytosis, Type 3
Hemolytic anemia, Spherocytosis OMIM:270970
Vohwinkel Syndrome, Variant Form
Parakeratosis, Orthokeratosis, Hyperkeratosis, Honeycomb palmoplantar hyperkeratosis OMIM:604117
Aspergillosis
Pneumonia, Keratitis, Hepatitis, Increased circulating IgE level, Osteomyelitis, Pleural effusion... ORPHA:1163
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Atopic dermatitis, Decreased specific anti-polysaccharide antibody level, Decreased specific anti... ORPHA:70593
Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency
Eczematoid dermatitis, Increased circulating IgE level, Osteomyelitis, Skin rash, Pruritus, Chron... ORPHA:2314
Idiopathic Chronic Eosinophilic Pneumonia
Increased circulating IgE level, Atopic dermatitis, Pleural effusion ORPHA:2902
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Pneumonia, Recurrent pneumonia, Inflammatory abnormality of the skin, Chronic mucocutaneous candi... OMIM:102700
Immunodeficiency 86
Decreased circulating IgG level, Impaired oxidative burst, Increased circulating IgM level OMIM:619549
Immunodeficiency 60 And Autoimmunity
Decreased circulating IgG level, Bronchiectasis, Decreased circulating IgA level, Crohn's disease... OMIM:618394
Ichthyosis Prematurity Syndrome
Allergic rhinitis, Follicular hyperkeratosis, Erythroderma, Polyhydramnios, Pruritus OMIM:608649
Ichthyosis, Congenital, Autosomal Recessive 7
Palmoplantar keratoderma, Erythroderma OMIM:615022
Alpha-Thalassemia
Extramedullary hematopoiesis, Microcytic anemia, Hemoglobin Barts, Hepatosplenomegaly, Hypersplen... ORPHA:846
Lichen Planus Pemphigoides
Conjunctivitis, Pruritus, Hyperkeratosis, Blepharitis ORPHA:254478
Anemia, Congenital Dyserythropoietic, Type Iv
Increased RBC distribution width, Persistence of hemoglobin F, Hepatosplenomegaly, Reduced hemato... OMIM:613673
Bone Marrow Failure Syndrome 6
Increased mean corpuscular volume, Persistence of hemoglobin F, Lymphopenia, Neutropenia, Anemia OMIM:618849
Papa Syndrome
Crohn's disease, Pustule, Increased inflammatory response, Increased circulating antibody level, ... ORPHA:69126
Pyropoikilocytosis, Hereditary
Hemolytic anemia, Microspherocytosis, Pyropoikilocytosis, Elliptocytosis OMIM:266140
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To
Reduced erythrocyte adenosine triphosphate concentration, Stomatocytosis, Erythroid hyperplasia, ... OMIM:301083
Primary Familial Polycythemia
Polycythemia, Abnormal hemoglobin ORPHA:90042
Peeling Skin Syndrome 5
Hyperkeratosis OMIM:617115
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Pneumonia, Inflammatory abnormality of the skin, Eczematoid dermatitis, Hepatitis, Increased circ... ORPHA:37042
Hb Bart'S Hydrops Fetalis
Anemia, Splenomegaly, Abnormal hemoglobin ORPHA:163596
Ovalocytosis, Southeast Asian
Hemolytic anemia, Elliptocytosis OMIM:166900
Epidermolytic Hyperkeratosis 1
Palmoplantar hyperkeratosis, Erythroderma OMIM:113800
Erythema Elevatum Diutinum
Skin rash, Increased circulating antibody level ORPHA:90000
Panniculitis-Induced Localized Lipodystrophy
Abnormal immunoglobulin level, Inflammatory abnormality of the skin ORPHA:90159
Wiskott-Aldrich Syndrome 2
Reduced natural killer cell activity, Defective T cell proliferation, Eczematoid dermatitis OMIM:614493
Ichthyosis, Congenital, Autosomal Recessive 5
Orthokeratosis, Parakeratosis, Palmoplantar keratoderma, Erythroderma OMIM:604777
Erythrocytosis, Familial, 3
Increased circulating hemoglobin concentration, Increased hematocrit, Increased red blood cell mass OMIM:609820
Meige Disease
Facial edema, Predominantly lower limb lymphedema, Lymphedema, Cobblestone-like hyperkeratosis, P... ORPHA:90186
Thrombocytopenia 1
Increased circulating IgE level, Increased circulating IgA level, Eczematoid dermatitis OMIM:313900
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Pneumonia, Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mit... ORPHA:169160
Agammaglobulinemia 7, Autosomal Recessive
Agammaglobulinemia, Erythema nodosum, Panhypogammaglobulinemia OMIM:615214
Bazex Syndrome
Palmoplantar keratoderma, Parakeratosis, Pruritus, Hyperkeratosis, Edema ORPHA:166113
Immunodeficiency, Common Variable, 14
Decreased circulating IgG level, Defective B cell differentiation, Decreased circulating IgA leve... OMIM:617765
Immunodeficiency 95
Decreased circulating IgG3 level, Recurrent viral pneumonia, Increased circulating IgG3 level OMIM:619773
Immunodeficiency 22
Decreased circulating IgG level, Ascites, Decreased circulating IgA level, Chronic oral candidias... OMIM:615758
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Pneumonia, Glomerulonephritis, Increased circulating antibody level OMIM:247800
Beta-Thalassemia
Microcytic anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia, Anemia ORPHA:848
Erythrocytosis, Familial, 7
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia OMIM:617981
Erythrocytosis, Familial, 6
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia OMIM:617980
Immunodeficiency 67
Increased circulating IgE level, Complete or near-complete absence of specific antibody response ... OMIM:607676
Acrokeratosis Verruciformis
Acantholysis, Hyperkeratosis, Punctate palmoplantar hyperkeratosis OMIM:101900
Autoimmune Lymphoproliferative Syndrome
Increased circulating IgE level, Increased circulating antibody level, Increased circulating IgA ... ORPHA:3261
Ichthyosis, Congenital, Autosomal Recessive 6
Orthokeratosis, Palmoplantar keratoderma, Parakeratosis, Erythroderma, Hyperkeratosis OMIM:612281
Ichthyosis, Congenital, Autosomal Recessive 9
Orthokeratosis, Erythroderma, Hyperkeratosis OMIM:615023
Autoinflammation With Arthritis And Dyskeratosis
Punctate keratitis, Increased circulating IgA level, Palmoplantar hyperkeratosis, Follicular hype... OMIM:617388
Igg4-Related Kidney Disease
Inflammatory abnormality of the skin, Lymphadenitis, Arteritis, Increased circulating IgE level, ... ORPHA:449395
Elliptocytosis 3
Decreased mean corpuscular volume, Pyropoikilocytosis, Chronic hemolytic anemia, Elliptocytosis OMIM:617948
Urban-Rogers-Meyer Syndrome
Increased circulating IgE level ORPHA:3409
Agammaglobulinemia, X-Linked
Decreased circulating IgG level, Recurrent pneumonia, Bronchiectasis, Septic arthritis, Pyoderma,... OMIM:300755
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Bronchiectasis, Decreased specific pneumococcal antibody level, Increased circulating IgM level, ... OMIM:615513
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Monoclonal immunoglobulin M proteinemia, Polyclonal elevation of IgM OMIM:153600
Igg4-Related Submandibular Gland Disease
Facial edema, Xerostomia, Increased circulating IgE level, Increased circulating IgG4 level, Redu... ORPHA:449432
Milroy Disease
Predominantly lower limb lymphedema, Erysipelas, Lymphedema, Hyperkeratosis, Pedal edema ORPHA:79452
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Predominantly dermal neutrophilic infiltrate, Superficial dermal perivascular inflammatory infilt... ORPHA:284426
Pityriasis Rubra Pilaris
Orthokeratosis, Parakeratosis, Subungual hyperkeratosis, Palmoplantar keratoderma OMIM:173200
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Increased circulating IgE level, Pancolitis, Decreased T cell activation, Perianal abscess, Defec... OMIM:618213
Keratosis Follicularis Spinulosa Decalvans, X-Linked
Folliculitis, Palmoplantar keratoderma, Keratitis, Follicular hyperkeratosis, Conjunctivitis, Ble... OMIM:308800
Tularemia
Pneumonia, Cutaneous abscess, Pleural effusion, Skin rash, Otitis media, Increased circulating an... ORPHA:3392
Pemphigus Foliaceus
Psoriasiform dermatitis, Crusting erythematous dermatitis, Pustule, Erythroderma, Acantholysis, P... ORPHA:79481
Immunodeficiency 113 With Autoimmunity And Autoinflammation
Minimal change glomerulonephritis, Eczematoid dermatitis, Hepatitis, Increased circulating IgE le... OMIM:620565
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Recurrent otitis media, Increased circulating IgG level, Increased circulating IgM level, Bronchi... OMIM:619220
Lead Poisoning
Increased circulating IgE level, Abnormality of humoral immunity, Tubulointerstitial nephritis, S... ORPHA:330015
Immunodeficiency 57 With Autoinflammation
Inflammation of the large intestine, Partial absence of specific antibody response to tetanus vac... OMIM:618108
Lymphoma, Hodgkin, Classic
Polyclonal elevation of IgM OMIM:236000
Ectodermal Dysplasia 15, Hypohidrotic/Hair Type
Blepharitis, Pruritus, Palmoplantar keratoderma, Eczematoid dermatitis OMIM:618535
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type
Orthokeratosis, Subungual hyperkeratosis, Acne inversa, Eczematoid dermatitis OMIM:617337
Tylosis With Esophageal Cancer
Diffuse palmoplantar hyperkeratosis, Parakeratosis, Follicular hyperkeratosis OMIM:148500
Superficial Epidermolytic Ichthyosis
Acantholysis, Palmoplantar keratoderma, Edema ORPHA:455
Schnitzler Syndrome
Pruritus, Skin rash, Arthritis, Increased circulating IgM level ORPHA:37748
Inflammatory Bowel Disease 28, Autosomal Recessive
Folliculitis, Pyoderma, Crohn's disease, Perianal abscess, Enterocolitis, Colitis OMIM:613148
Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads
Cheilitis, Angular cheilitis, Follicular hyperkeratosis, Punctate palmoplantar hyperkeratosis, Ac... OMIM:616295
Psoriasis 14, Pustular
Psoriasiform dermatitis, Pustule, Parakeratosis, Oligoarthritis, Cholangitis OMIM:614204
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Pneumonia, Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mit... ORPHA:276
Ectodermal Dysplasia And Immunodeficiency 1
Lymphedema, Molluscum contagiosum, Abnormal circulating IgG level, Dysgammaglobulinemia, Increase... OMIM:300291
Subcorneal Pustular Dermatosis
Pustule, Pruritus, Rheumatoid arthritis, Increased circulating antibody level ORPHA:48377
Wiskott-Aldrich Syndrome
Inflammation of the large intestine, Recurrent pneumonia, Decreased specific anti-polysaccharide ... OMIM:301000
Trichinellosis
Facial edema, Increased circulating IgE level, Skin rash, Periorbital edema, Conjunctivitis, Edema ORPHA:863
Insulin Autoimmune Syndrome
Arthralgia/arthritis, Increased circulating antibody level ORPHA:411593
Ziegler-Huang Syndrome
Neutropenia, Macrocytic anemia, Persistence of hemoglobin F OMIM:620501
Peeling Skin Syndrome 4
Orthokeratosis, Palmoplantar keratoderma, Hyperkeratosis OMIM:607936
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Increased circulating IgE level, Pneumonia, Otitis media, Panhypogammaglobulinemia OMIM:602450
Erythrokeratodermia Variabilis Et Progressiva 3
Orthokeratosis, Palmoplantar keratoderma, Hyperkeratosis OMIM:617525
Zika Virus Disease
Myelitis, Skin rash, Maculopapular exanthema, Infectious encephalitis, Arthritis, Conjunctivitis,... ORPHA:448237
Proteasome-Associated Autoinflammatory Syndrome 2
Abnormal circulating IgM level, Neutrophilic infiltration of the skin, Skin rash, Increased circu... OMIM:618048
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Methemoglobinemia, Polycythemia OMIM:250800
Immunodeficiency 64 With Lymphoproliferation
Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Defec... OMIM:618534
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Atrophic gastritis, Decreased circulating IgG level, Eczematoid dermatitis, Decreased circulating... OMIM:616100
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Recur... ORPHA:508533
Ichthyosis, Congenital, Autosomal Recessive 8
Orthokeratosis, Hyperkeratosis OMIM:613943
Pyoderma Gangrenosum
Inflammation of the large intestine, Rheumatoid arthritis, Increased circulating antibody level, ... ORPHA:48104
Pachyonychia Congenita 2
Angular cheilitis, Subungual hyperkeratosis, Folliculitis, Palmoplantar hyperkeratosis OMIM:167210
Activated Pi3K-Delta Syndrome
Pneumonia, Recurrent otitis media, Decreased circulating antibody level, Chronic sinusitis, Arthr... ORPHA:397596
Immunodeficiency 96
Decreased circulating IgG level, Eczematoid dermatitis, Recurrent otitis media, Decreased circula... OMIM:619774
Familial Benign Chronic Pemphigus
Acantholysis, Hyperkeratosis ORPHA:2841
Acute Generalized Exanthematous Pustulosis
Facial edema, Cheilitis, Predominantly dermal neutrophilic infiltrate, Pustule, Eosinophilic derm... ORPHA:293173
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Increased circulating IgA level, Glomerulonephritis OMIM:314000
Sickle Cell Anemia
Splenic infarction, Hypochromic anemia, Increased mean corpuscular volume, Persistence of hemoglo... ORPHA:232
Autoimmune Lymphoproliferative Syndrome, Type Iii
Recurrent otitis media, Recurrent sinusitis, Increased circulating antibody level, Decreased circ... OMIM:615559
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections
Recurrent pneumonia, Chronic mucocutaneous candidiasis, Eczematoid dermatitis, Cutaneous abscess,... OMIM:147060
Asthma, Short Stature, And Elevated Iga
Increased circulating IgA level OMIM:208600
Diamond-Blackfan Anemia 6
Increased mean corpuscular volume, Macrocytic anemia, Persistence of hemoglobin F OMIM:612561
Hereditary Methemoglobinemia
Methemoglobinemia ORPHA:621
Boutonneuse Fever
Increased circulating IgG level, Maculopapular exanthema, Skin rash, Increased circulating IgM level ORPHA:83313
Immunodeficiency 33
Decreased circulating total IgM, Increased circulating IgA level OMIM:300636
Immunodeficiency 27A
Pneumonia, Increased inflammatory response, Salmonella osteomyelitis, Increased circulating IgG l... OMIM:209950
Igg4-Related Ophthalmic Disease
Keratitis, Increased circulating IgE level, Increased circulating IgG4 level, Orchitis, Prostatit... ORPHA:449563
Agammaglobulinemia 9, Autosomal Recessive
Agammaglobulinemia, Seborrheic dermatitis, Eczematoid dermatitis OMIM:619693
Autoimmune Hepatitis
Inflammation of the large intestine, Ascites, Sclerosing cholangitis, Increased circulating antib... ORPHA:2137
Methemoglobinemia And Ambiguous Genitalia
Methemoglobinemia OMIM:250790
Trichothiodystrophy 6, Nonphotosensitive
Increased HbA2 hemoglobin, Decreased mean corpuscular volume OMIM:616943
Selective Igm Deficiency
Allergic rhinitis, Rheumatoid arthritis, Lymphadenitis, Cutaneous abscess, Paraproteinemia, Otiti... ORPHA:331235
Lymphoproliferative Syndrome, X-Linked, 1
Decreased circulating IgG level, Decreased circulating antibody level, Fulminant hepatitis, Infec... OMIM:308240
Autoimmune Lymphoproliferative Syndrome, Type Iia
Nephritis, Reduced delayed hypersensitivity, Malar rash, Increased circulating IgA level, Increas... OMIM:603909
Pachyonychia Congenita 3
Palmoplantar keratoderma, Chapped lip, Follicular hyperkeratosis, Palmar hyperkeratosis, Plantar ... OMIM:615726
Interstitial Granulomatous Dermatitis With Arthritis
Rheumatoid arthritis, Pruritus, Inflammatory abnormality of the skin ORPHA:79099
Sting-Associated Vasculopathy, Infantile-Onset
Pustular rash, Malar rash, Skin rash, Pustule, Myositis, Increased circulating IgA level, Increas... OMIM:615934
Beta-Thalassemia Intermedia
Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomegaly, Erythroid hyperpla... ORPHA:231222
Myeloma, Multiple
Paraproteinemia OMIM:254500
Prolidase Deficiency
Crusting erythematous dermatitis, Recurrent pneumonia, Eczematoid dermatitis, Increased circulati... OMIM:170100
Immunodeficiency 10
Decreased circulating IgG level, Recurrent pneumonia, Recurrent otitis media, Decreased circulati... OMIM:612783
Autoimmune Lymphoproliferative Syndrome
Reduced delayed hypersensitivity, Increased circulating IgA level, Increased circulating IgG leve... OMIM:601859
Acute Radiation Syndrome
Interstitial pneumonitis, Inflammatory abnormality of the skin, Hyperkeratosis ORPHA:454831
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Joint swelling, Skin rash, Increased circulating IgA level, Panniculitis, Increased circulating I... OMIM:617099
Yao Syndrome
Uveitis, Inflammatory abnormality of the skin, Xerostomia, Skin rash, Keratoconjunctivitis sicca,... OMIM:617321
Pneumocystosis
Interstitial pneumonitis, Pleural effusion, Increased circulating antibody level, Acute infectiou... ORPHA:723
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
Microcytic anemia, HbH hemoglobin ORPHA:98791
Proteasome-Associated Autoinflammatory Syndrome 3
Skin rash, Increased circulating antibody level, Myositis, Arthritis, Sinusitis, Periorbital edem... OMIM:617591
Angiostrongyliasis
Increased circulating specific IgE antibody, Increased circulating IgA level, Increased circulati... ORPHA:74
Congenital Disorder Of Glycosylation, Type Im
Inflammatory abnormality of the skin, Hyperkeratosis OMIM:610768
C3 Glomerulopathy
Paraproteinemia, Decreased circulating complement C3 concentration, Decreased circulating complem... ORPHA:329918
Mu-Heavy Chain Disease
Increased circulating antibody level ORPHA:100024
Interstitial Lung Disease 2
Increased circulating antibody level OMIM:178500
Dominant Beta-Thalassemia
Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomega... ORPHA:231226
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Increased circulating antibody level OMIM:615285
Acquired Methemoglobinemia
Methemoglobinemia ORPHA:464453
Beta-Thalassemia Major
Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomega... ORPHA:231214
Ras-Associated Autoimmune Leukoproliferative Disorder
Decreased lymphocyte apoptosis, Increased circulating antibody level OMIM:614470
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Recurrent otitis media, Increased circulating IgG level, Lymphocytic interstitial pneumonia OMIM:618495
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Increased circulating antibody level OMIM:202700
Hyper-Igd Syndrome
Lymphadenitis, Molluscum contagiosum, Skin rash, Serositis, Increased circulating IgA level, Arth... OMIM:260920
Adult-Onset Nemaline Myopathy
Paraproteinemia ORPHA:171442
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin
Persistence of hemoglobin F OMIM:617101
Q Fever
Pneumonia, Hepatitis, Osteomyelitis, Pleural effusion, Cholecystitis, Increased circulating antib... ORPHA:781
Caffey Disease
Increased circulating antibody level ORPHA:1310
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Pneumonia, Decreased circulating IgA level, Sinusitis, Increased circulating IgM level, Bronchiec... OMIM:242860
Simple Cryoglobulinemia
Nephritis, Monoclonal immunoglobulin M proteinemia, Viral hepatitis, Paraproteinemia, Reduced cir... ORPHA:91139
Simpson-Golabi-Behmel Syndrome
Polyhydramnios, Increased circulating IgE level ORPHA:373
Ebola Hemorrhagic Fever
Maculopapular exanthema, Acute pancreatitis, Hepatitis, Increased circulating antibody level ORPHA:319218
Tempi Syndrome
Ascites, Increased circulating IgG level, Transudative pleural effusion ORPHA:284227
Inflammatory Pseudotumor Of The Liver
Increased hepatitis B virus antibody level ORPHA:90003
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Persistence of hemoglobin F OMIM:619769
Shwachman-Diamond Syndrome 1
Persistence of hemoglobin F, Pancytopenia, Acute myeloid leukemia, Neutropenia, Thrombocytopenia,... OMIM:260400
Leishmaniasis
Rhinitis, Increased circulating antibody level ORPHA:507
Coccidioidomycosis
Pneumonia, Folliculitis, Exudative pleural effusion, Morbilliform rash, Osteomyelitis, Skin rash,... ORPHA:228123
Adult Idiopathic Neutropenia
Recurrent aphthous stomatitis, Increased circulating IgM level ORPHA:2688
Vexas Syndrome
Arteritis, Inflammatory abnormality of the skin, Neutrophilic infiltration of the skin, Nasal cho... OMIM:301054
Congenital Analbuminemia
Facial edema, Oligohydramnios, Increased circulating antibody level, Edema, Pedal edema ORPHA:86816
Melkersson-Rosenthal Syndrome
Periorbital edema, Cheilitis, Inflammatory abnormality of the skin, Edema ORPHA:2483
Thymoma
Leukemia, Pure red cell aplasia, Aplastic anemia, Imbalanced hemoglobin synthesis ORPHA:99867
Bone Marrow Failure Syndrome 3
Aplastic anemia, Increased mean corpuscular volume, Persistence of hemoglobin F, Pancytopenia, Ac... OMIM:617052
Viss Syndrome
Atopic dermatitis, Eczematoid dermatitis, Increased circulating IgE level, Chronic gastritis, Dec... OMIM:619472
Immunodeficiency 36 With Lymphoproliferation
Decreased circulating IgG level, Decreased circulating IgA level, Increased circulating IgM level... OMIM:616005
Uremic Pruritus
Abnormal circulating cytokine concentration, Pruritus, Inflammatory abnormality of the skin, Recu... ORPHA:94059
Postinfectious Vasculitis
Pneumonia, Bacterial endocarditis, Abnormality of humoral immunity, Inflammatory abnormality of t... ORPHA:48435
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Inflammation of the large intestine, Interface hepatitis, Sclerosing cholangitis, Granulomatous c... ORPHA:562639
Diamond-Blackfan Anemia
Macrocytic dyserythropoietic anemia, Increased mean corpuscular volume, Persistence of hemoglobin... ORPHA:124
Poems Syndrome
Abnormality of skin physiology, Ascites, Pleural effusion, Increased circulating antibody level, ... ORPHA:2905
Primary Sjögren Syndrome
Arteritis, Xerostomia, Parotitis, Chronic active hepatitis, Reduced circulating complement concen... ORPHA:289390
Subacute Inflammatory Demyelinating Polyneuropathy
Increased circulating IgG level ORPHA:206594
Aicardi-Goutieres Syndrome 7
Atrophic gastritis, Atopic dermatitis, Pneumonia, Hepatitis, Oligohydramnios, Skin rash, Chilblai... OMIM:615846
Hyperimmunoglobulinemia D With Periodic Fever
Recurrent aphthous stomatitis, Peritonitis, Increased circulating IgA level, Arthritis ORPHA:343
Rift Valley Fever
Macular edema, Hepatitis, Skin rash, Infectious encephalitis, Increased circulating IgG level, In... ORPHA:319251
Lassa Fever
Facial edema, Conjunctivitis, Increased circulating IgM level ORPHA:99824
Mevalonic Aciduria
Morbilliform rash, Increased circulating IgD level, Skin rash, Edema OMIM:610377
Scleromyxedema
Paraproteinemia, Pruritus ORPHA:167635
O'Sullivan-Mcleod Syndrome
Increased circulating antibody level ORPHA:99965
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Anemia, Abnormal hemoglobin ORPHA:847
Calcific Aortic Disease With Immunologic Abnormalities, Familial
Increased circulating antibody level OMIM:114065
Brucellosis
Pneumonia, Hip osteoarthritis, Arteritis, Sacroiliac arthritis, Osteomyelitis, Pleural effusion, ... ORPHA:1304
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia OMIM:301040
Diamond-Blackfan Anemia 1
Increased mean corpuscular volume, Persistence of hemoglobin F, Elevated red cell adenosine deami... OMIM:105650
Insulin-Resistance Syndrome Type B
Pneumonia, Decreased circulating complement factor B concentration, Nephritis, Skin rash, Increas... ORPHA:2298
Japanese Encephalitis
Infectious encephalitis, Pulmonary edema, Increased circulating antibody level, Cerebral edema, I... ORPHA:79139
Proteasome-Associated Autoinflammatory Syndrome 1
Increased circulating interleukin 8 concentration, Conjunctivitis, Increased circulating interfer... OMIM:256040
Alveolar Echinococcosis
Cholangitis, Cutaneous abscess, Pedal edema, Increased circulating antibody level ORPHA:284
Igg4-Related Dacryoadenitis And Sialadenitis
Facial edema, Xerostomia, Increased circulating IgG4 level, Myositis, Increased circulating IgA l... ORPHA:79078
Mucopolysaccharidosis-Plus Syndrome
Bone marrow hypocellularity, Recurrent pneumonia, Increased circulating IgM level, Nephritis OMIM:617303
Primary Biliary Cholangitis
Hepatitis, Ascites, Increased circulating IgA level, Gastrointestinal inflammation, Pruritus, Inc... ORPHA:186
Trichothiodystrophy 3, Photosensitive
Increased circulating IgA level OMIM:616395
Gaucher Disease Type 1
Ascites, Osteoarthritis, Increased circulating antibody level ORPHA:77259
Al Amyloidosis
Peripheral edema, Xerostomia, Increased circulating antibody level ORPHA:85443
Sarcoidosis, Susceptibility To, 1
Inflammation of the large intestine, Abnormality of T cell physiology, Pleural effusion, Increase... OMIM:181000
Multiple Myeloma
Increased circulating IgG level, Increased circulating IgA level, Pleural effusion, Decreased cir... ORPHA:29073
Tubulointerstitial Nephritis And Uveitis Syndrome
Posterior uveitis, Macular edema, Nongranulomatous uveitis, Panuveitis, Skin rash, Increased circ... ORPHA:91500
Cystic Echinococcosis
Membranous nephropathy, Increased circulating antibody level ORPHA:400
Primary Sclerosing Cholangitis
Hepatitis, Ascites, Pleural effusion, Polyclonal elevation of IgM, Pancreatitis, Pruritus, Ulcera... ORPHA:171
Crimean-Congo Hemorrhagic Fever
Conjunctivitis, Parotitis, Ascites, Morbilliform rash, Cholecystitis, Orchitis, Erythema nodosum,... ORPHA:99827
Marburg Hemorrhagic Fever
Uveitis, Skin rash, Increased circulating antibody level, Orchitis, Pancreatitis, Arthritis, Macu... ORPHA:99826
Cysticercosis
Increased anti-parasite IgE antibody level, Infectious encephalitis, Iridocyclitis, Increased cir... ORPHA:1560
Encephalitis Lethargica
Increased circulating antibody level ORPHA:83600
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Decreased circulating IgG level, Bone marrow hypocellularity, Increased circulating IgM level, Co... ORPHA:505248
Aapoaiv Amyloidosis
Paraproteinemia ORPHA:439232
Tick-Borne Encephalitis
Increased circulating IgG level, Myelitis, Increased circulating IgM level, Abnormal circulating ... ORPHA:297
Gaucher Disease Type 3
Pericardial effusion, Hydrops fetalis, Increased circulating antibody level ORPHA:77261
Lysinuric Protein Intolerance
Abnormality of humoral immunity, Reduced circulating complement concentration, Increased circulat... ORPHA:470
Alkaptonuria
Methemoglobinemia, Hemolytic anemia ORPHA:56
Gaucher Disease
Hepatitis, Osteomyelitis, Increased circulating antibody level, Polyclonal elevation of IgM, Oste... ORPHA:355
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2
Increased circulating antibody level OMIM:606002
Yellow Fever
Increased circulating interleukin 6 concentration, Increased circulating IgM level, Acute pancrea... ORPHA:99829

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 Kprp

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 Kprp.

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

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Kprpem1(IMPC)Mbp Exon Deletion Mice, Tissue
Kprptm113525(L1L2_Pgk_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Kprptm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Kprptm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells

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