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Gene: Ripk1 MGI:108212

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Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
receptor (TNFRSF)-interacting serine-threonine kinase 1
Synonyms:
Rinp,  Rip1

Order Alleles

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

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.

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 Ripk1 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 Ripk1 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Autoinflammation With Episodic Fever And Lymphadenopathy
Recurrent tonsillitis, Microcytic anemia, Splenomegaly, Lymphadenopathy, Hepatomegaly OMIM:618852
Immunodeficiency 57 With Autoinflammation
Inflammation of the large intestine, Reduced natural killer cell count, Failure to thrive, Skin r... OMIM:618108

The table below shows human diseases predicted to be associated to Ripk1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Immunodeficiency 32A
Granuloma, Lymphadenitis, Lymphadenopathy OMIM:614893
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Cellulitis, Abnormally low T cell receptor excision circle level, Recurrent pneumonia, Lymphadeni... OMIM:618986
Immunodeficiency 68
Lymphadenitis, Abscess, T lymphocytopenia, B lymphocytopenia, Septic arthritis, Abnormal natural ... OMIM:612260
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Recurrent pneumonia, Recurrent tonsillitis, Lymphadenitis, Eczematoid dermatitis, Granuloma, Lymp... OMIM:618935
Combined Immunodeficiency Due To Zap70 Deficiency
Pneumonia, Lymphadenitis, Chronic mucocutaneous candidiasis, Failure to thrive, Abnormal lymph no... ORPHA:911
Centrifugal Lipodystrophy
Inflammatory abnormality of the skin, Lymphadenitis, Absence of subcutaneous fat, Reduced subcuta... ORPHA:90156
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)
Abnormal lymph node morphology OMIM:136580
Immunodeficiency 104
Pneumonia, Chronic mucocutaneous candidiasis, Eczematoid dermatitis, Failure to thrive secondary ... OMIM:608971
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency
Lymphadenopathy ORPHA:319600
Pulmonary Nodular Lymphoid Hyperplasia
Mediastinal lymphadenopathy, Follicular hyperplasia, Plasmacytosis ORPHA:60026
Hepatic Venoocclusive Disease With Immunodeficiency
Abnormality of the liver, Absence of lymph node germinal center OMIM:235550
Squamous Cell Carcinoma Of The Esophagus
Lymphadenopathy ORPHA:99977
Mantle Cell Lymphoma
Weight loss, Splenomegaly, Lymphadenopathy ORPHA:52416
Immunodeficiency 38 With Basal Ganglia Calcification
Axillary lymphadenopathy, Inguinal lymphadenopathy, Lymphadenopathy OMIM:616126
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Abnormal T cell count, Lymphadenitis, Failure to thrive, Lymphopenia, Hepatosplenomegaly, Decreas... ORPHA:331206
Kerion Celsi
Recurrent cutaneous abscess formation, Inflammatory abnormality of the skin, Recurrent skin infec... ORPHA:499
Appendicitis, Proneness To
Abnormal large intestine morphology OMIM:107700
Reticuloendotheliosis, X-Linked
Anemia, Jaundice, Hepatosplenomegaly, Lymphadenopathy OMIM:312500
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Discoid lupus rash, Cellulitis, Recurrent pneumonia, Lymphadenitis, Eczematoid dermatitis, Osteom... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Discoid lupus rash, Cellulitis, Recurrent pneumonia, Lymphadenitis, Eczematoid dermatitis, Osteom... OMIM:233710
Immunodeficiency 75 With Lymphoproliferation
Hepatosplenomegaly, Follicular hyperplasia, Decreased proportion of class-switched memory B cells... OMIM:619126
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Discoid lupus rash, Cellulitis, Recurrent pneumonia, Lymphadenitis, Eczematoid dermatitis, Osteom... OMIM:233690
Granulomatous Disease, Chronic, X-Linked
Discoid lupus rash, Cellulitis, Recurrent pneumonia, Lymphadenitis, Eczematoid dermatitis, Granul... OMIM:306400
Immunodeficiency 52
Recurrent pneumonia, Increased proportion of gamma-delta T cells, Failure to thrive, Lymphopenia,... OMIM:617514
Selective Igm Deficiency
Allergic rhinitis, Cellulitis, Rheumatoid arthritis, Lymphadenitis, Decreased proportion of CD8-p... ORPHA:331235
Pseudo-Torch Syndrome 3
Anemia, Lymphadenitis, Congenital thrombocytopenia, Leukocytosis OMIM:618886
Adenocarcinoma Of The Esophagus
Obesity, Lymphadenopathy ORPHA:99976
Follicular Lymphoma
Lymphedema, Pleural effusion, Splenomegaly, Weight loss, Lymphadenopathy, Abnormal peritoneum mor... ORPHA:545
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hepatitis, Recurrent otitis media, Lymphopenia, Splenomegaly, Autoimmune hemolytic anemia, Lympha... ORPHA:444463
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Hepatic fibrosis, Inflammation of the large intestine, Lymphadenitis, Eczematoid dermatitis, Fail... OMIM:615895
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Cellulitis, Splenomegaly, Increased proportion of transitional B cells, Lymphadenopathy, Decrease... OMIM:615513
Immunodeficiency 76
Recurrent pneumonia, Lymphopenia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Colitis, T ly... OMIM:619164
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency
Pneumonia, Salmonella osteomyelitis, Lymphadenitis ORPHA:319552
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hemophagocytosis, Skin rash, Splenomegaly, Hepatomegaly, Jaundice, Lymphadenopathy, Neutropenia, ... OMIM:603552
Microsporidiosis
Lymphadenitis, Abnormality of the spleen, Decreased proportion of CD4-positive helper T cells, Ke... ORPHA:2552
Rat-Bite Fever
Lymphadenitis, Parotitis, Morbilliform rash, Skin rash, Pustule, Myocarditis, Anemia, Oligoarthri... ORPHA:31205
Lymphatic Filariasis
Predominantly lower limb lymphedema, Lymphadenitis, Lymphedema, Hypereosinophilia, Abnormality of... ORPHA:2035
Hyper-Igd Syndrome
Neutrophilia, Lymphadenitis, Hepatosplenomegaly, Leukocytosis, Skin rash, Splenomegaly, Lymphaden... OMIM:260920
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Cervical lymphadenopathy, Failure to thrive in infancy, Abnormally low T cell receptor excision c... OMIM:618987
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Recurrent pneumonia, Inflammatory abnormality of the skin, Absence of lymph node germinal center,... ORPHA:277
Mast Cell Sarcoma
Mastocytosis, Splenomegaly, Weight loss, Lymphadenopathy, Hepatomegaly, Mediastinal lymphadenopathy ORPHA:66661
Immunodeficiency 105
Reduced natural killer cell count, Absence of lymph node germinal center, Lymphopenia, Hepatosple... OMIM:619924
Pseudomyxoma Peritonei
Inflammation of the large intestine, Ascites, Hernia, Weight loss, Lymphadenopathy, Abnormal peri... ORPHA:26790
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Herpes simplex encephalitis, Recurrent otitis media, Hepatosplenomegaly, Lymphadenopathy, Increas... OMIM:618982
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Recurrent otitis media, Decreased CD4:CD8 ratio, Decreased proportion of CD4-positive helper T ce... OMIM:300853
Immunodeficiency 103, Susceptibility To Fungal Infections
Hypereosinophilia, Abnormal B cell count, Abnormal proportion of CD8-positive T cells, Abnormal p... OMIM:212050
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Decreased proportion of CD4+CD25+ regulatory T cells, Lymphopenia, Follicular hyperplasia, Decrea... OMIM:619846
Whim Syndrome
Pneumonia, Cellulitis, Recurrent pneumonia, Lymphadenitis, Parotitis, Abnormal neutrophil morphol... ORPHA:51636
Mu-Heavy Chain Disease
Abnormal B cell count, Splenomegaly, Hepatomegaly, Weight loss, Lymphadenopathy, Anemia ORPHA:100024
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Hepatomegaly, Weight loss, Splenomegaly, Lymphadenopathy ORPHA:86893
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Fluctuating splenomegaly, Recurrent otitis media, Autoimmune hemolytic anemia, Lymphadenopathy, N... OMIM:619220
Immunodeficiency 27A
Pneumonia, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Increased inflammatory response, Salmo... OMIM:209950
Chronic Intestinal Pseudoobstruction
Intestinal malrotation, Patent ductus arteriosus, Abnormal intestine morphology, Pyloric stenosis ORPHA:2978
Immunodeficiency 64 With Lymphoproliferation
Increased proportion autoreactive unresponsive CD21-/low B cells, Abnormal CD4:CD8 ratio, Failure... OMIM:618534
Lymphoproliferative Syndrome 3
Reduced natural killer cell count, Hepatosplenomegaly, Lymphadenopathy OMIM:618261
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Recurrent pneumonia, Abnormal CD4:CD8 ratio, Recurrent aphthous stomatitis, Splenomegaly, Abscess... OMIM:150550
Burkitt Lymphoma
Abnormal lymph node morphology, Abnormality of the ovary, Abnormality of the spleen, Abnormality ... ORPHA:543
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Failure to thrive, Recurrent otitis media, Decreased CD4:CD8 ratio, Splenomegaly, Autoimmune hemo... OMIM:618495
Nocardiosis
Pneumonia, Cellulitis, Lymphadenitis, Cutaneous abscess, Keratitis, Liver abscess, Brain abscess,... ORPHA:31204
Autoinflammation With Episodic Fever And Lymphadenopathy
Recurrent tonsillitis, Microcytic anemia, Splenomegaly, Lymphadenopathy, Hepatomegaly OMIM:618852
Pfapa Syndrome
Splenomegaly, Infectious encephalitis, Weight loss, Lymphadenopathy, Arthritis, Hepatomegaly ORPHA:42642
Deafness, Autosomal Dominant 34, With Or Without Inflammation
Conjunctivitis, Lymphadenopathy, Arthritis OMIM:617772
Meige Disease
Cellulitis, Predominantly lower limb lymphedema, Atypical scarring of skin, Facial edema, Absence... ORPHA:90186
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Hypersplenism, Pancytopenia, Splenomegaly, Decreased helper T cell proportion OMIM:183350
Alpha-Heavy Chain Disease
Ascites, Splenomegaly, Anemia, Lymphadenopathy, Hepatomegaly ORPHA:100025
Caspase 8 Deficiency
Pneumonia, Eczematoid dermatitis, Failure to thrive, Decreased CD4:CD8 ratio, Splenomegaly, Lymph... OMIM:607271
Kimura Disease
Eosinophilia, Abnormal salivary gland morphology, Follicular hyperplasia, Lymphadenopathy ORPHA:482
Proteasome-Associated Autoinflammatory Syndrome 4
Generalized lipodystrophy, Splenomegaly, Autoimmune hemolytic anemia, Myositis, Lymphadenopathy, ... OMIM:619183
Immunodeficiency, Common Variable, 1
Pneumonia, Recurrent pneumonia, Abnormal T cell count, Recurrent otitis media, Splenomegaly, Recu... OMIM:607594
Activated Pi3K-Delta Syndrome
Pneumonia, Recurrent tonsillitis, Failure to thrive, Recurrent otitis media, Splenomegaly, Chroni... ORPHA:397596
Igg4-Related Kidney Disease
Arteritis, Inflammatory abnormality of the skin, Lymphadenitis, Abnormal mesentery morphology, Pr... ORPHA:449395
Familial Cold Autoinflammatory Syndrome 2
Recurrent aphthous stomatitis, Leukocytosis, Skin rash, Splenomegaly, Lymphadenopathy, Arthritis,... OMIM:611762
Lethal Congenital Contracture Syndrome 3
Neonatal death OMIM:611369
Classic Mycosis Fungoides
Eczematoid dermatitis, Abnormal lymphocyte morphology, Skin rash, Splenomegaly, Lymphadenopathy, ... ORPHA:2584
Tularemia
Pneumonia, Brain abscess, Cutaneous abscess, Cervical lymphadenopathy, Abnormal nasopharyngeal ad... ORPHA:3392
Immunodeficiency 7
Failure to thrive, Recurrent otitis media, Hypereosinophilia, Splenomegaly, Autoimmune hemolytic ... OMIM:615387
Ras-Associated Autoimmune Leukoproliferative Disorder
Pancytopenia, Splenomegaly, Follicular hyperplasia, Hepatomegaly, Lymphocytosis, Neutropenia, Mon... OMIM:614470
Deafness-Lymphedema-Leukemia Syndrome
Bone marrow hypocellularity, Acute leukemia, Lymphedema, Leukocytosis, Splenomegaly, Weight loss,... ORPHA:3226
Proteasome-Associated Autoinflammatory Syndrome 3
Failure to thrive, Lymphopenia, Skin rash, Splenomegaly, Myositis, Hepatomegaly, Anemia, Lipodyst... OMIM:617591
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Brain abscess, Abnormal lymph node morphology, Abnormality of the lymphatic system, Weight loss, ... ORPHA:54251
Proteasome-Associated Autoinflammatory Syndrome 2
Decreased proportion of memory B cells, Failure to thrive, Neutrophilic infiltration of the skin,... OMIM:618048
Cinca Syndrome
Lymphedema, Hepatosplenomegaly, Leukocytosis, Skin rash, Eosinophilia, Lymphadenopathy, Arthritis... OMIM:607115
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Failure to thrive in infancy, Leukocytosis, Skin rash, Joint swelling, Increased proportion of CD... OMIM:617099
Pleural Mesothelioma
Hepatomegaly, Weight loss, Pleural effusion, Lymphadenopathy ORPHA:50251
Immunodeficiency, Common Variable, 2
Recurrent pneumonia, Abnormal T cell count, Recurrent otitis media, Follicular hyperplasia, Recur... OMIM:240500
Laryngeal Neuroendocrine Tumor
Adrenocorticotropic hormone excess, Weight loss, Chronic noninfectious lymphadenopathy ORPHA:100083
Immunodeficiency With Hyper-Igm, Type 4
Absence of lymph node germinal center, Osteomyelitis, Autoimmune hemolytic anemia, Autoimmune thr... OMIM:608184
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis
Abnormal intestine morphology, Villous atrophy, Death in infancy OMIM:251850
Lymphoproliferative Syndrome 1
Hemophagocytosis, Pancytopenia, Leukopenia, Pleural effusion, Splenomegaly, Decreased proportion ... OMIM:613011
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of memory ... OMIM:615559
Lymphangiectasia, Intestinal
Edema, Intestinal lymphangiectasia, Lymphopenia, Stillbirth, Pedal edema OMIM:152800
Leukocyte Adhesion Deficiency, Type Iii
Extramedullary hematopoiesis, Abnormal lymph node morphology, Hepatosplenomegaly, Leukocytosis, S... OMIM:612840
Congenital Toxoplasmosis
Ascites, Failure to thrive in infancy, Hepatomegaly, Lymphadenopathy, Thrombocytopenia, Anemia, J... ORPHA:858
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hemophagocytosis, Hepatosplenomegaly, Splenomegaly, Recurrent sinusitis, Lymphadenopathy, Thrombo... OMIM:613101
Immunodeficiency 97 With Autoinflammation
Hemophagocytosis, Recurrent otitis media, Lymphopenia, Hepatosplenomegaly, Decreased proportion o... OMIM:619802
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia
Nodular goiter, Chronic noninfectious lymphadenopathy, Goiter, Abnormal lymph node morphology ORPHA:97290
Systemic-Onset Juvenile Idiopathic Arthritis
Pleural effusion, Skin rash, Splenomegaly, Joint swelling, Hepatomegaly, Lymphadenopathy, Arthrit... ORPHA:85414
Familial Papillary Or Follicular Thyroid Carcinoma
Nodular goiter, Chronic noninfectious lymphadenopathy, Goiter, Abnormal lymph node morphology ORPHA:319487
Lymphoproliferative Syndrome 2
Recurrent pneumonia, Aplastic anemia, Hemophagocytosis, Ascites, Hepatosplenomegaly, Pancytopenia... OMIM:615122
Immunodeficiency 54
Reduced natural killer cell count, Failure to thrive, Splenomegaly, Adrenocorticotropic hormone e... OMIM:609981
Desmoplastic Small Round Cell Tumor
Ascites, Hepatomegaly, Cachexia, Weight loss, Lymphadenopathy, Testicular neoplasm, Abnormal peri... ORPHA:83469
Omenn Syndrome
Pneumonia, Edema, Failure to thrive, Abnormal lymphocyte morphology, Leukocytosis, Splenomegaly, ... ORPHA:39041
Igg4-Related Pachymeningitis
Nephritis, Lymphadenitis, Parotitis, Eosinophilia, Pancreatitis, Sinusitis ORPHA:449427
Immunodeficiency 109 With Lymphoproliferation
Pancytopenia, Splenomegaly, Recurrent sinusitis, Generalized lymphadenopathy, Absent circulating ... OMIM:620282
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Splenomegaly, Decreased proportion of class-switched memory B cells, Glomerulonephritis, Lymphade... OMIM:619375
Schnitzler Syndrome
Leukocytosis, Skin rash, Splenomegaly, Hepatomegaly, Lymphadenopathy, Arthritis, Anemia ORPHA:37748
Leishmaniasis
Pancytopenia, Leukopenia, Splenomegaly, Abnormal macrophage morphology, Hepatomegaly, Weight loss... ORPHA:507
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Failure to thrive, Decreased proportion of CD8-positive T cells, Lymphopenia, Hepatosplenomegaly,... ORPHA:169154
Indolent Systemic Mastocytosis
Mastocytosis, Increased proportion of CD25+ mast cells, Splenomegaly, Skin rash, Lymphadenopathy,... ORPHA:98848
Cyclic Neutropenia
Cellulitis, Recurrent tonsillitis, Periodontitis, Cervical lymphadenopathy, Lymphopenia, Cyclic n... ORPHA:2686
Immunodeficiency With Hyper-Igm, Type 3
Absence of lymph node germinal center, Neutropenia OMIM:606843
Rosaï-Dorfman Disease
Anemia, Lymphadenopathy ORPHA:158014
Immunodeficiency 91 And Hyperinflammation
Recurrent pneumonia, Failure to thrive, Hemophagocytosis, Hepatosplenomegaly, Pleural effusion, M... OMIM:619644
Felty Syndrome
Cellulitis, Bone marrow hypocellularity, Recurrent pneumonia, Abnormal lymphocyte morphology, Epi... ORPHA:47612
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Pneumonia, Abnormally low T cell receptor excision circle level, Failure to thrive, Lymphopenia, ... OMIM:602450
Plague
Inflammation of the large intestine, Lymphadenitis, Chapped lip, Skin rash, Splenomegaly, Hepatom... ORPHA:707
Immunodeficiency With Hyper-Igm, Type 5
Epididymitis, Lymphadenopathy OMIM:608106
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Inflammation of the large intestine, Eczematoid dermatitis, Chronic mucocutaneous candidiasis, Fa... ORPHA:98813
Aggressive Systemic Mastocytosis
Ascites, Hepatosplenomegaly, Hypersplenism, Pancytopenia, Leukocytosis, Increased proportion of C... ORPHA:98850
Immunodeficiency 19
Abnormal B cell morphology, Failure to thrive, Abnormal natural killer cell morphology, Recurrent... OMIM:615617
Omenn Syndrome
Pneumonia, Failure to thrive, Splenomegaly, Hypoplasia of the thymus, Eosinophilia, Anemia, Eryth... OMIM:603554
Classic Hodgkin Lymphoma
Bone marrow hypocellularity, Skin rash, Splenomegaly, Weight loss, Lymphadenopathy, Hepatomegaly ORPHA:391
Lymphoproliferative Syndrome, X-Linked, 1
Abnormal T cell count, Aplastic anemia, Hemophagocytosis, Pancytopenia, Abnormal B cell count, Sp... OMIM:308240
Immunodeficiency 98 With Autoinflammation, X-Linked
Bone marrow hypocellularity, Hemophagocytosis, Agranulocytosis, Recurrent otitis media, Recurrent... OMIM:301078
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Gastrointestinal hemorrhage, Abnormal large intestine morphology, Gastroesophageal reflux, Abnorm... ORPHA:2198
Autoimmune Lymphoproliferative Syndrome, Type Iia
Nephritis, Malar rash, Chronic noninfectious lymphadenopathy, Follicular hyperplasia, Splenomegal... OMIM:603909
Sea-Blue Histiocytosis
Sea-blue histiocytosis, Splenomegaly, Thrombocytopenia, Hepatomegaly, Mediastinal lymphadenopathy... ORPHA:158029
Primary Myelofibrosis
Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly, Throm... ORPHA:824
Severe Combined Immunodeficiency, X-Linked
Pneumonia, Recurrent pneumonia, Failure to thrive, Skin rash, Hypoplasia of the thymus, Impaired ... OMIM:300400
Tafro Syndrome
Anasarca, Ascites, Hepatosplenomegaly, Pleural effusion, Splenomegaly, Leukocytosis, Hepatomegaly... ORPHA:457077
Autoimmune Lymphoproliferative Syndrome
Chronic noninfectious lymphadenopathy, Splenomegaly, Follicular hyperplasia, Autoimmune hemolytic... OMIM:601859
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Cellulitis, Decreased proportion of CD4+CD25+ regulatory T cells, Eczematoid dermatitis, Failure ... OMIM:606367
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Eczematoid dermatitis, Hepatitis, Failure to thrive, Decreased FOXP3-expressing T cell count, Ane... OMIM:304790
Pulmonary Non-Tuberculous Mycobacterial Infection
Pleural effusion, Weight loss, Lymphadenopathy, Pericardial effusion, Bronchiectasis ORPHA:411703
Acute Monoblastic/Monocytic Leukemia
Hypochromic anemia, Acute monocytic leukemia, Cervical lymphadenopathy, Leukocytosis, Anemia, Wei... ORPHA:514
Granulomatous Slack Skin
Abnormal lymph node morphology ORPHA:33111
Kaposi Sarcoma
Lymphedema, Abnormality of the spleen, Abnormality of the liver, Skin rash, Generalized lymphaden... ORPHA:33276
Immunodeficiency 27B
Osteomyelitis, Generalized lymphadenopathy, Salmonella osteomyelitis OMIM:615978
Drug Reaction With Eosinophilia And Systemic Symptoms
Hepatitis, Angioedema, Interstitial pneumonitis, Skin rash, Infectious encephalitis, Pustule, Eos... ORPHA:139402
Thymic Carcinoma
Neoplasm of the thymus, Weight loss, Palpebral edema, Mediastinal lymphadenopathy, Edema ORPHA:99868
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Atrophic gastritis, Eczematoid dermatitis, Lymphopenia, Psoriasiform dermatitis, Splenomegaly, Au... OMIM:616100
Immunodeficiency, Common Variable, 8, With Autoimmunity
Inflammation of the large intestine, Recurrent otitis media, Pancytopenia, Erythema nodosum, Auto... OMIM:614700
Sézary Syndrome
Abnormal lymphocyte morphology, Splenomegaly, Erythroderma, Lymphadenopathy, Hepatomegaly, Edema ORPHA:3162
Adult-Onset Still Disease
Neutrophilia, Bone marrow hypocellularity, Hepatitis, Interstitial pneumonitis, Skin rash, Spleno... ORPHA:829
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia
Congenital pyloric atresia, Neonatal death OMIM:612138
T-Cell Immunodeficiency With Thymic Aplasia
Abnormally low T cell receptor excision circle level, Recurrent pneumonia, Eczematoid dermatitis,... OMIM:242700
Griscelli Syndrome
Bone marrow hypocellularity, Hepatitis, Ascites, Leukopenia, Splenomegaly, Lymphadenopathy, Throm... ORPHA:381
Immunodeficiency With Hyper-Igm, Type 2
Lymphadenopathy OMIM:605258
Primary Erythromelalgia
Hypothermia ORPHA:90026
Mycosis Fungoides
Psoriasiform dermatitis, Eczematoid dermatitis, Lymphadenopathy OMIM:254400
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Pneumonia, Absent natural killer cells, Failure to thrive, Recurrent otitis media, Lymphopenia, A... OMIM:600802
Griscelli Syndrome Type 2
Hemophagocytosis, Pancytopenia, Splenomegaly, Lymphadenopathy, Neutropenia, Hepatomegaly, Jaundice ORPHA:79477
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
Pneumonia, Atopic dermatitis, Abnormally low T cell receptor excision circle level, T lymphocytop... OMIM:618806
Lethal Congenital Contracture Syndrome 8
Oral-pharyngeal dysphagia, Death in infancy, Neonatal death OMIM:616287
Niemann-Pick Disease, Type A
Failure to thrive, Sea-blue histiocytosis, Ascites, Microcytic anemia, Splenomegaly, Hepatomegaly... OMIM:257200
Papa Syndrome
Crohn's disease, Increased inflammatory response, Myositis, Pustule, Lymphadenopathy, Arthritis, ... ORPHA:69126
Cinca Syndrome
Abnormality of neutrophils, Leukocytosis, Splenomegaly, Hepatomegaly, Anemia, Lymphadenopathy, In... ORPHA:1451
American Trypanosomiasis
Periorbital edema, Skin rash, Splenomegaly, Infectious encephalitis, Hepatomegaly, Lymphadenopath... ORPHA:3386
Rhabdoid Tumor
Neoplasm of the liver, Weight loss, Lymphadenopathy, Thrombocytopenia, Anemia ORPHA:69077
Majeed Syndrome
Inflammatory abnormality of the skin, Failure to thrive, Osteomyelitis, Leukocytosis, Splenomegal... ORPHA:77297
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Pneumonia, Failure to thrive, Failure to thrive secondary to recurrent infections, Otitis media, ... OMIM:601457
Gamma-Heavy Chain Disease
Rheumatoid arthritis, Abnormal lymphocyte morphology, Skin rash, Splenomegaly, Autoimmune hemolyt... ORPHA:100026
Diffuse Cutaneous Mastocytosis
Abnormality of the spleen, Abnormality of the liver, Lymphocytosis, Erythroderma, Lymphadenopathy... ORPHA:79456
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Decreased proportion of memory B cells, Absence of lymph node germinal center, Chronic mucocutane... ORPHA:79124
Fish-Eye Disease
Hepatomegaly, Splenomegaly, Lymphadenopathy ORPHA:79292
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Atrophic gastritis, Pneumonia, Inflammation of the large intestine, Atopic dermatitis, Eczematoid... ORPHA:436159
Hemophagocytic Lymphohistiocytosis, Familial, 2
Generalized edema, Failure to thrive, Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Leukope... OMIM:603553
Eosinophilic Fasciitis
Cellulitis, Abnormal eosinophil morphology, Fasciitis, Myositis, Muscular edema, Eosinophilia, We... ORPHA:3165
Melkersson-Rosenthal Syndrome
Inflammatory abnormality of the skin, Lymphadenopathy, Periorbital edema, Cheilitis, Edema ORPHA:2483
Inflammatory Bowel Disease (Crohn Disease) 30
Protein-losing enteropathy, Esophagitis, Pancolitis, Ileitis, Abnormal intestine morphology, Gast... OMIM:619079
Klatskin Tumor
Weight loss, Cholangiocarcinoma, Lymphadenopathy, Hepatomegaly, Jaundice, Extrahepatic cholestasis ORPHA:99978
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Reduced natural killer cell count, Nonimmune hydrops fetalis, Hypoplasia of the thymus, Impaired ... OMIM:619313
Immunoneurologic Disorder, X-Linked
Decreased circulating IgG2 level, Neonatal death OMIM:300076
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Pneumonia, Abnormally low T cell receptor excision circle level, Reduced natural killer cell coun... ORPHA:276
Acute Generalized Exanthematous Pustulosis
Facial edema, Cholestasis, Predominantly dermal neutrophilic infiltrate, Leukocytosis, Pustule, E... ORPHA:293173
Medullary Thyroid Carcinoma
Pheochromocytoma, Weight loss, Abnormal liver parenchyma morphology, Lymphadenopathy, Nodular goi... ORPHA:1332
Boutonneuse Fever
Cervical lymphadenopathy, Leukopenia, Skin rash, Lymphadenopathy, Thrombocytopenia, Maculopapular... ORPHA:83313
Visceral Myopathy 2
Barrett esophagus, Gastroesophageal reflux, Volvulus, Intestinal pseudo-obstruction, Intestinal m... OMIM:619350
Cold Agglutinin Disease
Hepatomegaly, Hemolytic anemia, Splenomegaly, Lymphadenopathy ORPHA:56425
Immune Dysregulation, Autoimmunity, And Autoinflammation
Cervical lymphadenopathy, Inguinal lymphadenopathy, Anemia OMIM:620514
Nephroblastoma
Neoplasm of the liver, Weight loss, Lymphadenopathy ORPHA:654
Amyloidosis, Hereditary Systemic 2
Cholestasis, Splenomegaly, Skin rash, Hepatomegaly, Edema OMIM:105200
Heme Oxygenase 1 Deficiency
Nephritis, Cervical lymphadenopathy, Coombs-positive hemolytic anemia, Lymphadenopathy, Thrombocy... OMIM:614034
Graft Versus Host Disease
Pneumonia, Inflammatory abnormality of the skin, Failure to thrive, Hemophagocytosis, Fasciitis, ... ORPHA:39812
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Cellulitis, Decreased mean platelet volume, Inflammation of the large intestine, Recurrent pneumo... OMIM:617718
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia
Congenital pyloric atresia, Esophageal stenosis, Neonatal death OMIM:619817
Pediatric Systemic Lupus Erythematosus
Discoid lupus rash, Nephritis, Microangiopathic hemolytic anemia, Ascites, Lymphopenia, Leukopeni... ORPHA:93552
Epidermolysis Bullosa With Diaphragmatic Hernia
Neonatal death OMIM:226735
Aregenerative Anemia
Bone marrow hypocellularity, Pancytopenia, Decreased proportion of CD4-positive helper T cells, A... ORPHA:101096
Hemophagocytic Lymphohistiocytosis, Familial, 1
Generalized edema, Failure to thrive, Hemophagocytosis, Leukopenia, Splenomegaly, Infectious ence... OMIM:267700
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Interstitial pneumonitis, Splenomegaly, Autoimmune hemolytic anemia, Neutropenia in presence of a... ORPHA:231154
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive
Dysphagia, Death in childhood, Death in infancy, Neonatal death OMIM:620265
Hypocomplementemic Urticarial Vasculitis
Angioedema, Ascites, Episcleritis, Skin rash, Splenomegaly, Pleural effusion, Hepatomegaly, Lymph... ORPHA:36412
Castleman Disease
Anasarca, Follicular hyperplasia, Generalized lymphadenopathy, Weight loss, Lymphadenopathy, Thro... ORPHA:160
Roifman Syndrome
Recurrent pneumonia, Eczematoid dermatitis, Recurrent otitis media, Splenomegaly, Hip contracture... OMIM:616651
Glycogen Storage Disease Iv
Failure to thrive, Ascites, Hepatosplenomegaly, Portal hypertension, Cirrhosis, Polyhydramnios, F... OMIM:232500
Acquired Hypertrichosis Lanuginosa
Weight loss, Lymphadenopathy, Ovarian neoplasm ORPHA:2221
Chronic Beryllium Disease
Abnormal proportion of CD4-positive T cells, Weight loss, Mediastinal lymphadenopathy, Lymphocyti... ORPHA:133
Nodular Non-Suppurative Panniculitis
Splenomegaly, Hepatomegaly, Weight loss, Inflammatory abnormality of the eye, Panniculitis, Edema ORPHA:33577
Mevalonic Aciduria
Fluctuating splenomegaly, Failure to thrive, Failure to thrive in infancy, Morbilliform rash, Hep... OMIM:610377
Riboflavin Deficiency
Hypothermia OMIM:615026
Microphthalmia, Syndromic 12
Intestinal malrotation, Cleft palate, Neonatal death OMIM:615524
Stuve-Wiedemann Syndrome 2
Neonatal death, Death in adolescence, Dysphagia, Stillbirth OMIM:619751
Roifman Syndrome
Recurrent pneumonia, Eczematoid dermatitis, Recurrent otitis media, Hepatosplenomegaly, Hip contr... ORPHA:353298
Anaplastic Thyroid Carcinoma
Nodular goiter, Weight loss, Lymphadenopathy, Goiter ORPHA:142
Immunodeficiency 10
Recurrent pneumonia, Recurrent otitis media, Splenomegaly, Autoimmune hemolytic anemia, Amelogene... OMIM:612783
Legionnaires Disease
Cellulitis, Bone marrow hypocellularity, Hepatitis, Lymphopenia, Splenomegaly, Infectious encepha... ORPHA:549
Macrophage Activation Syndrome
Hepatitis, Hemophagocytosis, Splenomegaly, Increased inflammatory response, Hepatomegaly, Anemia,... ORPHA:158061
Mixed Connective Tissue Disease
Xerostomia, Hemolytic anemia, Leukopenia, Skin rash, Splenomegaly, Joint swelling, Myositis, Hepa... ORPHA:809
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Hypothermia, Patent ductus arteriosus OMIM:616501
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Hip osteoarthritis, Hepatosplenomegaly, Joint swelling, Knee osteoarthritis, Synovitis, Anemia, O... ORPHA:85408
T-Cell Immunodeficiency With Thymic Aplasia
Pneumonia, Eczematoid dermatitis, Failure to thrive, Decreased proportion of naive T cells, Aplas... ORPHA:83471
Immunodeficiency 13
Recurrent pneumonia, Recurrent otitis media, Lymphopenia, Decreased CD4:CD8 ratio, Decreased prop... OMIM:615518
Immunodeficiency With Hyper-Igm, Type 1
Hepatitis, Absence of lymph node germinal center, Failure to thrive, Hemolytic anemia, Enterovira... OMIM:308230
Thymic Neuroendocrine Tumor
Pituitary adenoma, Increased circulating prolactin concentration, Pituitary prolactin cell adenom... ORPHA:97289
Common Variable Immunodeficiency
Pneumonia, Failure to thrive in infancy, Lymphopenia, Abnormality of the liver, Otitis media, Spl... ORPHA:1572
Acute Promyelocytic Leukemia
Pancytopenia, Leukopenia, Leukocytosis, Weight loss, Lymphadenopathy, Neutropenia, Thrombocytopen... ORPHA:520
Diaphragmatic Hernia 5, X-Linked
Neonatal death OMIM:306950
Immunodeficiency 57 With Autoinflammation
Inflammation of the large intestine, Reduced natural killer cell count, Failure to thrive, Skin r... OMIM:618108
Periodic Fever, Familial, Autosomal Dominant
Erysipelas, Hepatic amyloidosis, Cervical lymphadenopathy, Skin rash, Myositis, Hepatomegaly, Oli... OMIM:142680
Mednik Syndrome
Microcolon, Volvulus, Death in childhood, Death in infancy, Jejunal atresia, Neonatal death OMIM:609313
2-Methylbutyryl-Coa Dehydrogenase Deficiency
Hypothermia OMIM:610006
Sting-Associated Vasculopathy, Infantile-Onset
Pustular rash, Failure to thrive, Lymphopenia, Leukopenia, Malar rash, Follicular hyperplasia, Sk... OMIM:615934
Pancreatoblastoma
Pancreatic calcification, Jaundice, Weight loss, Abnormal lymph node morphology ORPHA:677
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Chronic myelomonocytic leukemia, Leukocytosis, Splenomegaly, Chronic lymphatic... ORPHA:98849
Kikuchi-Fujimoto Disease
Abnormal lymph node morphology, Cervical lymphadenopathy, Leukopenia, Malar rash, Pleural effusio... ORPHA:50918
Fanconi Anemia, Complementation Group O
Death in infancy, Neonatal death, Rectal atresia, Anal atresia, Miscarriage OMIM:613390
Fetal Akinesia Deformation Sequence 4
High palate, Prenatal death, Neonatal death OMIM:618393
Combined Immunodeficiency Due To Crac Channel Dysfunction
Pneumonia, Splenomegaly, Amelogenesis imperfecta, Lymphadenopathy, Thrombocytopenia, Hypocalcific... ORPHA:169090
Scrub Typhus
Skin rash, Splenomegaly, Infectious encephalitis, Lymphadenopathy, Myocarditis, Anterior uveitis ORPHA:83317
Q Fever
Pneumonia, Granuloma, Hepatitis, Osteomyelitis, Hepatosplenomegaly, Abnormality of the liver, Ple... ORPHA:781
Poems Syndrome
Polycythemia, Increased circulating prolactin concentration, Ascites, Pleural effusion, Splenomeg... ORPHA:2905
Thyroid Lymphoma
Hashimoto thyroiditis, Lymphadenopathy, Goiter ORPHA:97285
Immunodeficiency 55
Absent natural killer cells, Eczematoid dermatitis, Lymphopenia, Lymphadenopathy, Neutropenia, Re... OMIM:617827
Brucellosis
Arteritis, Sacroiliac arthritis, Hypersplenism, Knee osteoarthritis, Weight loss, Glomerulonephri... ORPHA:1304
Primary Intestinal Lymphangiectasia
Generalized edema, Peritoneal effusion, Intestinal lymphangiectasia, Ascites, Lymphopenia, Pleura... ORPHA:90362
Developmental And Epileptic Encephalopathy 78
Hypothermia OMIM:618557
Autoimmune Lymphoproliferative Syndrome
Lymphopenia, Hypersplenism, Decreased proportion of CD4-positive helper T cells, Abnormal proport... ORPHA:3261
Familial Hemophagocytic Lymphohistiocytosis
Cholestatic liver disease, Hemophagocytosis, Skin rash, Splenomegaly, Infectious encephalitis, He... ORPHA:540
Mitochondrial Complex I Deficiency, Nuclear Type 30
Neonatal death OMIM:301021
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Inflammatory abnormality of the skin, Psoriasiform dermatitis, Crusting erythematous dermatitis, ... ORPHA:37042
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies
Microcytic anemia, Hepatosplenomegaly, Recurrent pneumonia, Lymphadenopathy OMIM:619750
Immunodeficiency 31C
Chronic mucocutaneous candidiasis, Eczematoid dermatitis, Osteomyelitis, Lymphopenia, Splenomegal... OMIM:614162
Middle Ear Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy ORPHA:100084
Lymphatic Malformation 6
Cellulitis, Facial edema, Generalized edema, Chylothorax, Lymphedema, Intestinal lymphangiectasia... OMIM:616843
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Cellulitis, Uveitis, Erysipelas, Fasciitis, Leukocytosis, Skin rash, Splenomegaly, Orchitis, Myos... ORPHA:32960
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Patent ductus arteriosus, Neonatal death OMIM:601612
Abcd Syndrome
Aganglionic megacolon, Total intestinal aganglionosis, Neonatal death OMIM:600501
Chediak-Higashi Syndrome
Periodontitis, Hemophagocytosis, Leukopenia, Giant neutrophil granules, Splenomegaly, Hepatomegal... OMIM:214500
Lig4 Syndrome
Acute leukemia, Pancytopenia, Leukocytosis, Cryptorchidism, Lymphadenopathy, Hepatomegaly ORPHA:99812
Spontaneous Periodic Hypothermia
Hypothermia ORPHA:29822
Pulmonary Capillary Hemangiomatosis
Pleural effusion, Pulmonary edema, Lymphadenopathy, Pericardial effusion, Mediastinal lymphadenop... ORPHA:199241
Acute Interstitial Pneumonia
Reduced hematocrit, Peripheral edema, Pleural effusion, Lymphadenopathy, Pericardial effusion, Br... ORPHA:79126
Immunodeficiency 85 And Autoimmunity
Decreased proportion of memory B cells, Reduced natural killer cell count, Eczematoid dermatitis,... OMIM:619510
Neutropenia, Lethal Congenital, With Eosinophilia
Neonatal death OMIM:257100
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Bone marrow hypocellularity, Eczematoid dermatitis, Recurrent otitis media, Lymphopenia, Hepatosp... OMIM:615688
Malt Lymphoma
Posterior uveitis, Weight loss, Lymphadenopathy, Anemia, Mediastinal lymphadenopathy ORPHA:52417
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Failure to thrive, Hilar lymph node enlargement, Recurrent otitis media, Cholestasis, Pleural eff... OMIM:620233
Pgm3-Cdg
Allergic rhinitis, Abnormal CD4:CD8 ratio, Lymphopenia, Esophagitis, Decreased proportion of CD4-... ORPHA:443811
Squamous Cell Carcinoma Of The Anal Canal
Neoplasm of the liver, Lymphadenopathy ORPHA:424019
Familial Pancreatic Carcinoma
Peritoneal abscess, Pancreatic adenocarcinoma, Exocrine pancreatic insufficiency, Hepatosplenomeg... ORPHA:1333
Mitochondrial Dna Depletion Syndrome 12A (Cardiomyopathic Type), Autosomal Dominant
Death in infancy, Neonatal death OMIM:617184
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3
Microcolon, Neonatal death OMIM:619362
Immunodeficiency 82 With Systemic Inflammation
Pustular rash, Recurrent otitis media, Follicular hyperplasia, Weight loss, Recurrent skin infect... OMIM:619381
Hereditary Amyloidosis With Primary Renal Involvement
Abnormal lymph node morphology, Hepatosplenomegaly, Hepatomegaly, Anemia, Weight loss, Lymphadeno... ORPHA:85450
Gallbladder Neuroendocrine Tumor
Biliary tract neoplasm, Ascites, Chronic noninfectious lymphadenopathy, Cholecystitis, Intermitte... ORPHA:100086
Dehydrated Hereditary Stomatocytosis
Cholelithiasis, Increased mean corpuscular volume, Polycythemia, Increased mean corpuscular hemog... ORPHA:3202
Idiopathic Congenital Hypothyroidism
Hypothermia ORPHA:95717
Coenzyme Q10 Deficiency, Primary, 5
Hypothermia OMIM:614654
Farber Disease
Hepatic fibrosis, Failure to thrive, Ascites, Hepatosplenomegaly, Joint swelling, Intrahepatic ch... ORPHA:333
Joint Contractures, Osteochondromas, And B-Cell Lymphoma
Ankle flexion contracture, Generalized lymphadenopathy, Knee flexion contracture, Hip contracture OMIM:620232
Combined Oxidative Phosphorylation Deficiency 8
Death in childhood, Death in infancy, Neonatal death OMIM:614096
Thanatophoric Dysplasia, Glasgow Variant
Neonatal death OMIM:273680
Waldenström Macroglobulinemia
Normocytic anemia, Leukemia, Pleural effusion, Splenomegaly, Hepatomegaly, Lymphadenopathy, Perio... ORPHA:33226
Cutaneous Neuroendocrine Carcinoma
Lymphoid leukemia, Chronic noninfectious lymphadenopathy ORPHA:79140
Spondyloenchondrodysplasia With Immune Dysregulation
Pneumonia, Rheumatoid arthritis, Recurrent otitis media, Lymphopenia, Joint swelling, Recurrent s... OMIM:607944
H Syndrome
Microcytic anemia, Decreased testicular size, Hepatosplenomegaly, Psoriasiform dermatitis, Upper ... ORPHA:168569
Congenital Syphilis
Pneumonia, Keratitis, Extramedullary hematopoiesis, Hepatosplenomegaly, Synovitis, Prolonged neon... ORPHA:499009
Congenital Disorder Of Glycosylation, Type Ih
Protein-losing enteropathy, Decreased circulating T4 concentration, Death in infancy, Neonatal de... OMIM:608104
Hyperimmunoglobulinemia D With Periodic Fever
Recurrent aphthous stomatitis, Peritonitis, Lymphadenopathy, Arthritis, Hepatomegaly ORPHA:343
Lymphangiectasia, Pulmonary, Congenital
Facial edema, Chylothorax, Edema, Lymphedema, Ascites, Chylous ascites, Pleural effusion, Nonimmu... OMIM:265300
Chédiak-Higashi Syndrome
Abnormality of neutrophil physiology, Periodontitis, Hemophagocytosis, Abnormal natural killer ce... ORPHA:167
Lymphatic Malformation 7
Facial edema, Chylothorax, Lymphedema, Ascites, Increased nuchal translucency, Pleural effusion, ... OMIM:617300
Fetal Akinesia, Respiratory Insufficiency, Microcephaly, Polymicrogyria, And Dysmorphic Facies
Neonatal death OMIM:619602
Visceral Myopathy 1
Microcolon, Intestinal pseudo-obstruction, Megaduodenum, Thinning of outer muscular layer of smal... OMIM:155310
Igg4-Related Submandibular Gland Disease
Facial edema, Enlarged lacrimal glands, Xerostomia, Abnormal pancreas morphology, Abnormality of ... ORPHA:449432
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Microcolon, Intestinal malrotation, Death in infancy, Abnormality of the gastrointestinal tract, ... ORPHA:2241
Nk-Cell Enteropathy
Hematochezia, Colonic diverticula, Gastroesophageal reflux, Stercoral ulcer, Abnormal gastric muc... ORPHA:263665
Familial Mediterranean Fever
Erysipelas, Ascites, Leukocytosis, Skin rash, Splenomegaly, Orchitis, Peritonitis, Pancreatitis, ... ORPHA:342
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Recurrent pneumonia, Absent natural killer cells, Failure to thrive in infancy, Lymphopenia, Hepa... ORPHA:35078
Sudden Infant Death-Dysgenesis Of The Testes Syndrome
Hypothermia ORPHA:168593
Coccidioidomycosis
Abnormality of the spleen, Morbilliform rash, Abscess, Erythema nodosum, Pleural empyema, Atypica... ORPHA:228123
Hennekam Syndrome
Chylothorax, Erysipelas, Camptodactyly of finger, Lymphedema, Ascites, Lymphopenia, Splenomegaly,... ORPHA:2136
Meconium Ileus
Microcolon, Meconium ileus OMIM:614665
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Accessory spleen, Cholestatic liver disease, Failure to thrive, Polysplenia, Failure to thrive in... OMIM:619418
Idiopathic Hypereosinophilic Syndrome
Inflammatory abnormality of the skin, Angioedema, Hepatosplenomegaly, Thrombocytosis, Erythroderm... ORPHA:3260
Carney Triad
Ascites, Pheochromocytoma, Lymphadenopathy, Anemia, Mediastinal lymphadenopathy ORPHA:139411
Timothy Syndrome
Hypothermia, Patent ductus arteriosus OMIM:601005
Igg4-Related Dacryoadenitis And Sialadenitis
Facial edema, Enlarged lacrimal glands, Xerostomia, Abnormality of the submandibular glands, Enla... ORPHA:79078
Aicardi-Goutieres Syndrome 7
Atrophic gastritis, Pneumonia, Atopic dermatitis, Hepatitis, Pancytopenia, Oligohydramnios, Chilb... OMIM:615846
Immunodeficiency 87 And Autoimmunity
Atrophic gastritis, Small for gestational age, Anasarca, Cervical lymphadenopathy, Ascites, Lymph... OMIM:619573
Histiocytosis-Lymphadenopathy Plus Syndrome
Pancreatic hypoplasia, Retroperitoneal fibrosis, Camptodactyly of finger, Cervical lymphadenopath... OMIM:602782
Multiple Myeloma
Pleural effusion, Splenomegaly, Weight loss, Lymphadenopathy, Anemia ORPHA:29073
Primary Hepatic Neuroendocrine Carcinoma
Ascites, Chronic noninfectious lymphadenopathy, Hepatic cysts, Intermittent jaundice, Biliary tra... ORPHA:100085
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Hypothermia OMIM:614498
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Hypothermia OMIM:245400
Neuroendocrine Tumor Of The Colon
Hepatomegaly, Weight loss, Chronic noninfectious lymphadenopathy ORPHA:100080
Sarcoidosis
Abnormal lymph node morphology, Weight loss, Erythema nodosum, Tubulointerstitial nephritis, Hepa... ORPHA:797
Agammaglobulinemia, X-Linked
Recurrent pneumonia, Bronchiectasis, Recurrent otitis media, Pyoderma, Lymph node hypoplasia, Rec... OMIM:300755
Ichthyosis, Congenital, Autosomal Recessive 4B
Death in infancy, Neonatal death OMIM:242500
Neuroblastoma
Anemia, Weight loss, Lymphadenopathy, Thrombocytopenia ORPHA:635
Chikungunya
Facial edema, Cervical lymphadenopathy, Skin rash, Joint swelling, Infectious encephalitis, Crust... ORPHA:324625
Bronchial Neuroendocrine Tumor
Pneumonia, Chronic noninfectious lymphadenopathy, Weight loss, Elevated circulating growth hormon... ORPHA:97287
Lymphangioleiomyomatosis
Chylothorax, Lymphedema, Ascites, Pulmonary lymphangiomyomatosis, Abnormality of the lymphatic sy... ORPHA:538
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5
Intestinal malrotation, Microcolon OMIM:619431
Sarcoidosis, Susceptibility To, 1
Inflammation of the large intestine, Enlarged lacrimal glands, Pancytopenia, Pleural effusion, Sp... OMIM:181000
Systemic Lupus Erythematosus
Discoid lupus rash, Leukopenia, Malar rash, Weight loss, Lupus nephritis, Lymphadenopathy, Arthri... ORPHA:536
Primary Sjögren Syndrome
Arteritis, Xerostomia, Lymphopenia, Chronic hepatitis, Decreased proportion of CD4-positive helpe... ORPHA:289390
Carcinoid Syndrome
Hepatic necrosis, Chronic noninfectious lymphadenopathy ORPHA:100093
Behçet Disease
Recurrent aphthous stomatitis, Pleural effusion, Splenomegaly, Infectious encephalitis, Increased... ORPHA:117
Ileal Neuroendocrine Tumor
Iron deficiency anemia, Weight loss, Lymphadenopathy, Extrahepatic cholestasis, Edema ORPHA:100078
Afibrinogenemia, Congenital
Death in childhood, Death in infancy, Neonatal death, Death in adolescence, Hematemesis OMIM:202400
Fetal Gaucher Disease
High palate, Stillbirth, Death in infancy, Neonatal death ORPHA:85212
Immunodeficiency 17
Abnormal B cell morphology, Eczematoid dermatitis, Failure to thrive, Recurrent otitis media, Dec... OMIM:615607
Blau Syndrome
Posterior uveitis, Keratitis, Xerostomia, Camptodactyly of finger, Abnormality of the liver, Skin... ORPHA:90340
Bresek Syndrome
Aganglionic megacolon, Cleft palate, Neonatal death ORPHA:85284
Menkes Disease
Hypothermia OMIM:309400
Neuroendocrine Tumor Of The Rectum
Hepatomegaly, Weight loss, Chronic noninfectious lymphadenopathy ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Hepatomegaly, Weight loss, Chronic noninfectious lymphadenopathy ORPHA:100082
Proteasome-Associated Autoinflammatory Syndrome 1
Recurrent otitis media, Microcytic anemia, Flexion contracture of finger, Erythema nodosum, Hepat... OMIM:256040
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Hypothermia ORPHA:226313
Arthrogryposis Multiplex Congenita 6
Death in childhood, Death in infancy, Neonatal death OMIM:619334
Familial Thyroid Dyshormonogenesis
Hypothermia ORPHA:95716
Faciocardiomelic Dysplasia, Lethal
Microglossia, Neonatal death OMIM:227270
Cushing Syndrome Due To Ectopic Acth Secretion
Abnormal lymph node morphology, Neoplasm of the thymus, Lymphopenia, Pancreatic adenocarcinoma, D... ORPHA:99889
Sacral Agenesis With Vertebral Anomalies
Anal atresia, Persistent cloaca, Neonatal death OMIM:615709
Cardiomyopathy, Dilated, 2H
Neonatal death OMIM:620203
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Hypothermia OMIM:608800
Igg4-Related Ophthalmic Disease
Keratitis, Palpebral edema, Sialadenitis, Orchitis, Prostatitis, Abnormality of the anterior pitu... ORPHA:449563
N-Acetylglutamate Synthase Deficiency
Hypothermia OMIM:237310
Meningococcal Meningitis
Hypothermia ORPHA:33475
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Anal atresia, Tracheoesophageal fistula, Esophageal atresia, Neonatal death OMIM:314390
Kawasaki Disease
Hepatitis, Cervical lymphadenopathy, Leukocytosis, Skin rash, Cholecystitis, Jaundice, Arthritis,... ORPHA:2331
Cherubism
Submandibular lymph node enlargement, Macular scar OMIM:118400
Crimean-Congo Hemorrhagic Fever
Morbilliform rash, Pancytopenia, Erythema nodosum, Neutrophilia, Hepatomegaly, Jaundice, Epididym... ORPHA:99827
Marburg Hemorrhagic Fever
Neutrophilia in presence of infection, Uveitis, Lymphopenia, Abnormal lymphocyte morphology, Leuk... ORPHA:99826
Phosphoribosylaminoimidazole Carboxylase Deficiency
Tracheoesophageal fistula, Esophageal atresia, Neonatal death OMIM:619859
Neuroendocrine Tumor Of Stomach
Hepatomegaly, Weight loss, Chronic noninfectious lymphadenopathy, Iron deficiency anemia ORPHA:100075
Tangier Disease
Hepatosplenomegaly, Chronic noninfectious lymphadenopathy, Orange discolored tonsils, Thrombocyto... ORPHA:31150
Riddle Syndrome
Pneumonia, Recurrent pneumonia, Otitis media, Recurrent sinusitis, Chronic sinusitis, Generalized... ORPHA:420741
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Microcolon, Ileal atresia, Patent ductus arteriosus OMIM:619351
Combined Oxidative Phosphorylation Deficiency 40
Decreased circulating cortisol level, Death in infancy, Neonatal death OMIM:618835
Combined Oxidative Phosphorylation Deficiency 42
Decreased circulating cortisol level, Death in infancy, Neonatal death OMIM:618839
Congenital Enterovirus Infection
Hypothermia ORPHA:292
Leptospirosis
Uveitis, Hepatitis, Pleural effusion, Skin rash, Optic neuritis, Lymphadenopathy, Thrombocytopeni... ORPHA:509
Malakoplakia
Inflammatory abnormality of the skin, Urinary bladder inflammation, Skin rash, Follicular hyperpl... ORPHA:556
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency
Neonatal death OMIM:602199
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities
Hypothermia OMIM:618493
Carnitine-Acylcarnitine Translocase Deficiency
Hypothermia ORPHA:159
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Hypothermia OMIM:618775
Genetic Transient Congenital Hypothyroidism
Hypothermia ORPHA:226316
Systemic Sclerosis
Barrett esophagus, Intestinal bleeding, Abnormal large intestine morphology, Gastroesophageal ref... ORPHA:90291
Fg Syndrome Type 1
Abnormal large intestine morphology, Gastroesophageal reflux, Anal atresia, High palate, Malrotat... ORPHA:93932
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease
Aganglionic megacolon, Microcolon, Ileus, Hypohidrosis ORPHA:163746
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hypothermia ORPHA:26793
Adenocarcinoma Of The Anal Canal
Neoplasm of the liver, Lymphadenopathy ORPHA:424016
Combined Oxidative Phosphorylation Deficiency 37
Hypothermia OMIM:618329
Hypothyroidism Due To Tsh Receptor Mutations
Hypothermia ORPHA:90673
Autosomal Recessive Malignant Osteopetrosis
Splenomegaly, Otitis media, Chronic rhinitis, Hepatomegaly, Lymphadenopathy, Anemia ORPHA:667
Bannayan-Riley-Ruvalcaba Syndrome
Abnormal large intestine morphology, Intestinal polyposis, Hashimoto thyroiditis, Lipoma, Narrow ... ORPHA:109
Boomerang Dysplasia
Neonatal death OMIM:112310
Ulnar Agenesis And Endocardial Fibroelastosis
Neonatal death OMIM:276822
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hypothermia OMIM:251880
Sepsis In Premature Infants
Hypothermia ORPHA:90051
Dopamine Beta-Hydroxylase Deficiency
Hypothermia ORPHA:230
3-Hydroxy-3-Methylglutaric Aciduria
Hypothermia ORPHA:20
Tbck-Related Intellectual Disability Syndrome
Hypothermia ORPHA:488632
Multiple Endocrine Neoplasia Type 2
Thyroid C cell hyperplasia, Cervical lymphadenopathy, Pheochromocytoma, Reduced subcutaneous adip... ORPHA:653
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hematemesis, Esophageal varix, Neonatal death OMIM:263200
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Hypothermia, Patent ductus arteriosus ORPHA:17
Orthostatic Hypotension 1
Intermittent hypothermia OMIM:223360
Renal-Hepatic-Pancreatic Dysplasia 1
Intestinal malrotation, Patent ductus arteriosus, Neonatal death OMIM:208540
Alexander Disease
Hypothermia ORPHA:58
African Trypanosomiasis
Myelitis, Keratitis, Hepatosplenomegaly, Splenomegaly, Hepatomegaly, Optic neuritis, Weight loss,... ORPHA:3385
Heart Defects, Congenital, And Other Congenital Anomalies
Colon perforation, Microcolon, Intestinal malrotation, Patent ductus arteriosus OMIM:600001
Isolated Thyroid-Stimulating Hormone Deficiency
Hypothermia ORPHA:90674
Ethylene Glycol Poisoning
Hypothermia ORPHA:31826
Neuroendocrine Neoplasm Of Appendix
Adrenocorticotropic hormone excess, Hepatomegaly, Ovarian neoplasm, Chronic noninfectious lymphad... ORPHA:100079
Adult-Onset Autosomal Dominant Leukodystrophy
Hypothermia ORPHA:99027
Aromatic L-Amino Acid Decarboxylase Deficiency
Intermittent hypothermia OMIM:608643
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Congenital shortened small intestine, Meckel diverticulum, Intestinal malrotation, Neonatal death... OMIM:265380
Neuroleptic Malignant Syndrome
Hypothermia ORPHA:94093
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Hypothermia ORPHA:79282
Mitochondrial Dna-Associated Leigh Syndrome
Hypothermia ORPHA:255210
Meacham Syndrome
Death in childhood, Death in infancy, Neonatal death, Stillbirth, Patent ductus arteriosus OMIM:608978
Menkes Disease
Hypothermia ORPHA:565
3-Methylglutaconic Aciduria, Type Viii
Dysphagia, Patent ductus arteriosus, Death in infancy, Neonatal death OMIM:617248
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Hypothermia ORPHA:226307
Hypothyroidism, Congenital, Nongoitrous, 2
Hypothermia OMIM:218700
Occipital Horn Syndrome
Hypothermia ORPHA:198
Restrictive Dermopathy
Microcolon, Patent ductus arteriosus, Submucous cleft hard palate ORPHA:1662
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Hypothermia ORPHA:293987
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Hypothermia, Patent ductus arteriosus ORPHA:438213
Hereditary Sensory And Autonomic Neuropathy Type 4
Hypothermia ORPHA:642

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 Ripk1

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 Ripk1.

No publications found that use IMPC mice or data for Ripk1.

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
Ripk1tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice
Ripk1tm208733(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Ripk1tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells

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