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

IMPC Data Collections

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

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.

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
Hepatomegaly, Lymphadenopathy, Splenomegaly, Microcytic anemia, Recurrent tonsillitis OMIM:618852
Immunodeficiency 57 With Autoinflammation
B lymphocytopenia, Inflammation of the large intestine, Bronchiectasis, Failure to thrive, Gastri... 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 73B With Defective Neutrophil Chemotaxis And Lymphopenia
B lymphocytopenia, Neutropenia, Leukopenia, Bronchiectasis, Lymphadenitis, Recurrent otitis media... OMIM:618986
Immunodeficiency 68
B lymphocytopenia, Lymphadenitis, Abscess, Septic arthritis, Recurrent skin infections, T lymphoc... OMIM:612260
Combined Immunodeficiency Due To Zap70 Deficiency
Pneumonia, Stomatitis, Lymphadenopathy, Lymphadenitis, Failure to thrive, Chronic oral candidiasi... ORPHA:911
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Eczema, Lymphadenopathy, Lymphadenitis, Abscess, Splenomegaly, Perianal abscess, Hepatosplenomega... OMIM:618935
Centrifugal Lipodystrophy
Inflammatory abnormality of the skin, Lack of facial subcutaneous fat, Lymphadenitis, Absence of ... ORPHA:90156
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive
Hepatomegaly, Eczema, Pneumonia, Lymphadenopathy, Failure to thrive secondary to recurrent infect... OMIM:608971
Pulmonary Nodular Lymphoid Hyperplasia
Plasmacytosis, Mediastinal lymphadenopathy, Follicular hyperplasia ORPHA:60026
Immunodeficiency 32A
Lymphadenopathy OMIM:614893
Mantle Cell Lymphoma
Lymphadenopathy, Weight loss, Splenomegaly ORPHA:52416
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency
Lymphadenopathy ORPHA:319600
Hepatic Venoocclusive Disease With Immunodeficiency
Abnormality of the liver, Absence of lymph node germinal center OMIM:235550
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Hepatomegaly, Abnormal B cell count, Lymphadenitis, Failure to thrive, Decreased proportion of CD... ORPHA:331206
Squamous Cell Carcinoma Of The Esophagus
Lymphadenopathy ORPHA:99977
Immunodeficiency 38 With Basal Ganglia Calcification
Lymphadenopathy OMIM:616126
Kerion Celsi
Lymphadenopathy, Recurrent skin infections, Inflammatory abnormality of the skin, Recurrent cutan... ORPHA:499
Appendicitis, Proneness To
Abnormal large intestine morphology OMIM:107700
Reticuloendotheliosis, X-Linked
Lymphadenopathy, Hepatosplenomegaly, Anemia, Jaundice OMIM:312500
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Hepatomegaly, Eczematoid dermatitis, Lymphadenopathy, Lymphadenitis, Discoid lupus rash, Splenome... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Hepatomegaly, Eczematoid dermatitis, Lymphadenopathy, Lymphadenitis, Discoid lupus rash, Splenome... OMIM:233710
Colonic Varices Without Portal Hypertension
Intestinal bleeding, Colonic varices OMIM:120440
Granulomatous Disease, Chronic, X-Linked
Hepatomegaly, Eczematoid dermatitis, Lymphadenopathy, Lymphadenitis, Discoid lupus rash, Splenome... OMIM:306400
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Hepatomegaly, Eczematoid dermatitis, Lymphadenopathy, Lymphadenitis, Discoid lupus rash, Splenome... OMIM:233690
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Hepatomegaly, Lymphadenopathy, Failure to thrive, Recurrent otitis media, Splenomegaly, Autoimmun... OMIM:618495
Selective Igm Deficiency
Non-infectious meningitis, Neutropenia in presence of anti-neutropil antibodies, Lymphadenopathy,... ORPHA:331235
Immunodeficiency 52
Bronchiectasis, Coombs-positive hemolytic anemia, Increased proportion of gamma-delta T cells, Ly... OMIM:617514
Immunodeficiency 75
Decreased proportion of class-switched memory B cells, Bronchiectasis, Lymphadenopathy, Hepatospl... OMIM:619126
Immunodeficiency 7
Lymphadenopathy, Hypereosinophilia, Failure to thrive OMIM:615387
Pseudo-Torch Syndrome 3
Lymphadenitis, Leukocytosis, Anemia, Congenital thrombocytopenia OMIM:618886
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Lymphadenopathy, Hepatitis, Recurrent otitis media, Splenomegaly, Autoimmune thrombocytopenia, Ly... ORPHA:444463
Follicular Lymphoma
Mediastinal lymphadenopathy, Lymphadenopathy, Weight loss, Abnormality of the peritoneum, Splenom... ORPHA:545
Immunodeficiency 76
B lymphocytopenia, Colitis, Lymphadenopathy, Splenomegaly, Recurrent pneumonia, Lymphopenia, T ly... OMIM:619164
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency
Lymphadenitis, Salmonella osteomyelitis, Pneumonia ORPHA:319552
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Microsporidiosis
Brain abscess, Cholangitis, Sinusitis, Myocarditis, Hepatitis, Infectious encephalitis, Lymphaden... ORPHA:2552
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Abnormally low T cell receptor excision circle level, B lymphocytopenia, Failure to thrive in inf... OMIM:618987
Rat-Bite Fever
Myocarditis, Pericarditis, Pustule, Endocarditis, Lymphadenitis, Oligoarthritis, Weight loss, Ane... ORPHA:31205
Immunodeficiency 14A, Autosomal Dominant
Increased proportion of transitional B cells, Decreased proportion of class-switched memory B cel... OMIM:615513
Hemophagocytic Lymphohistiocytosis, Familial, 4
Conjunctivitis, Hepatomegaly, Neutropenia, Lymphadenopathy, Edema, Anemia, Splenomegaly, Skin ras... OMIM:603552
Carcinoma Of Esophagus
Lymphadenopathy, Obesity, Weight loss ORPHA:70482
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Absent tonsils, B lymphocytopenia, Sinusitis, Inflammatory abnormality of the skin, Failure to th... ORPHA:277
Hyper-Igd Syndrome
Leukocytosis, Lymphadenopathy, Lymphadenitis, Chronic oral candidiasis, Arthritis, Splenomegaly, ... OMIM:260920
Adenocarcinoma Of The Esophagus
Lymphadenopathy, Obesity ORPHA:99976
Lymphatic Filariasis
Lymphedema, Lymphangiectasis, Vaginal hydrocele, Lymphadenopathy, Lymphadenitis, Abnormality of t... ORPHA:2035
Mast Cell Sarcoma
Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Weight loss, Splenomegaly, Mastocytosis ORPHA:66661
Whim Syndrome
Sinusitis, Neutropenia, Pneumonia, Bronchiectasis, Lymphadenitis, Parotitis, Severe periodontitis... ORPHA:51636
Proteasome-Associated Autoinflammatory Syndrome 2
Lymphadenopathy, Failure to thrive, Skin rash, Thrombocytopenia, Periorbital edema OMIM:618048
Pseudomyxoma Peritonei
Inflammation of the large intestine, Ascites, Lymphadenopathy, Weight loss, Hernia, Abnormality o... ORPHA:26790
Mu-Heavy Chain Disease
Hepatomegaly, Abnormal B cell count, Lymphadenopathy, Weight loss, Anemia, Splenomegaly ORPHA:100024
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Lymphadenopathy, Hepatomegaly, Weight loss, Splenomegaly ORPHA:86893
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Mediastinal lymphadenopathy, Bronchiectasis, Lymphadenopathy, Recurrent otitis media, Splenomegal... OMIM:300853
Immunodeficiency 72 With Autoinflammation
Increased B cell count, Herpes simplex encephalitis, Increased proportion of memory T cells, Bron... OMIM:618982
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Lymphadenopathy, Hepatomegaly, Eczema, Failure to thrive OMIM:615895
Immunodeficiency 64
Abnormal CD4:CD8 ratio, Mediastinal lymphadenopathy, Bronchiectasis, Lymphadenopathy, Failure to ... OMIM:618534
Immunodeficiency 27A
Thrombocytosis, Leukocytosis, Enlarged mesenteric lymph node, Pneumonia, Lymphadenopathy, Weight ... OMIM:209950
Chronic Intestinal Pseudoobstruction
Pyloric stenosis, Abnormal intestine morphology, Intestinal malrotation, Patent ductus arteriosus ORPHA:2978
Nocardiosis
Brain abscess, Conjunctivitis, Pericarditis, Infectious encephalitis, Pneumonia, Peritonitis, Lym... ORPHA:31204
Meige Disease
Lymphedema, Edema of the dorsum of hands, Lymph node hypoplasia, Facial edema, Atypical scarring ... ORPHA:90186
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, B lymphocytopenia, Neutropenia, Bronchiectasis, Lymphadenopathy, Abscess,... OMIM:150550
Burkitt Lymphoma
Abnormality of the spleen, Abnormality of the ovary, Abnormality of the lymph nodes, Abnormality ... ORPHA:543
Lymphoproliferative Syndrome 3
Lymphadenopathy, Reduced natural killer cell count, Hepatosplenomegaly OMIM:618261
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Fluctuating splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Lymphadenopathy, ... OMIM:619220
Igg4-Related Kidney Disease
Tubulointerstitial nephritis, Lymphadenopathy, Eosinophilia, Inflammatory abnormality of the skin... ORPHA:449395
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Pancytopenia, Hypersplenism, Decreased helper T cell proportion, Splenomegaly OMIM:183350
Autoinflammation With Episodic Fever And Lymphadenopathy
Hepatomegaly, Lymphadenopathy, Splenomegaly, Microcytic anemia, Recurrent tonsillitis OMIM:618852
Deafness, Autosomal Dominant 34, With Or Without Inflammation
Lymphadenopathy, Arthritis, Conjunctivitis OMIM:617772
Kimura Disease
Abnormal salivary gland morphology, Eosinophilia, Lymphadenopathy, Follicular hyperplasia ORPHA:482
Pfapa Syndrome
Hepatomegaly, Infectious encephalitis, Lymphadenopathy, Weight loss, Arthritis, Splenomegaly ORPHA:42642
Classic Mycosis Fungoides
Hepatomegaly, Eczema, Lymphadenopathy, Edema, Abnormal lymphocyte morphology, Splenomegaly, Skin ... ORPHA:2584
Proteasome-Associated Autoinflammatory Syndrome 4
Hepatomegaly, Myositis, Lymphadenopathy, Edema, Panniculitis, Generalized lipodystrophy, Splenome... OMIM:619183
Alpha-Heavy Chain Disease
Hepatomegaly, Ascites, Lymphadenopathy, Anemia, Splenomegaly, Premature ovarian insufficiency ORPHA:100025
Hodgkin Lymphoma
Lymphadenopathy, Hepatomegaly, Weight loss, Splenomegaly ORPHA:98293
Immunodeficiency, Common Variable, 1
B lymphocytopenia, Hepatomegaly, Decreased proportion of class-switched memory B cells, Pneumonia... OMIM:607594
Immunodeficiency 55
Lymphadenopathy, Eczema, Recurrent skin infections, Neutropenia OMIM:617827
Lethal Congenital Contracture Syndrome 3
Neonatal death OMIM:611369
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Brain abscess, Abnormality of the lymphatic system, Weight loss, Anemia, Abnormality of the lymph... ORPHA:54251
Deafness-Lymphedema-Leukemia Syndrome
Leukocytosis, Hepatomegaly, Acute leukemia, Lymphadenopathy, Chronic otitis media, Weight loss, B... ORPHA:3226
Proteasome-Associated Autoinflammatory Syndrome 3
Sinusitis, Hepatomegaly, Myositis, Lymphadenopathy, Failure to thrive, Panniculitis, Anemia, Lipo... OMIM:617591
Ras-Associated Autoimmune Leukoproliferative Disorder
Hepatomegaly, Neutropenia, Monocytosis, Leukemia, Splenomegaly, Autoimmune thrombocytopenia, Lymp... OMIM:614470
Omenn Syndrome
B lymphocytopenia, Hepatomegaly, Erythroderma, Pneumonia, Lymphadenopathy, Failure to thrive, Hyp... OMIM:603554
Familial Cold Autoinflammatory Syndrome 2
Leukocytosis, Lymphadenopathy, Arthritis, Splenomegaly, Skin rash, Recurrent aphthous stomatitis,... OMIM:611762
Tularemia
Brain abscess, Leukocytosis, Mediastinal lymphadenopathy, Pneumonia, Lymphadenopathy, Anemia, Abn... ORPHA:3392
Cinca Syndrome
Leukocytosis, Lymphadenopathy, Anemia, Arthritis, Hepatosplenomegaly, Uveitis, Skin rash, Eosinop... OMIM:607115
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Leukocytosis, Failure to thrive in infancy, Increased proportion of CD4-positive T cells, Lymphad... OMIM:617099
Caspase 8 Deficiency
Eczema, Pneumonia, Failure to thrive, Lymphadenopathy, Splenomegaly, Decreased CD4:CD8 ratio OMIM:607271
Diarrhea 2, With Microvillus Atrophy
Abnormal intestine morphology, Death in infancy, Villous atrophy OMIM:251850
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased B cell count, Hepatomegaly, Decreased proportion of class-switched memory B cells, Medi... OMIM:615559
Immunodeficiency With Hyper-Igm, Type 4
Bronchiectasis, Osteomyelitis, Autoimmune thrombocytopenia, Absence of lymph node germinal center... OMIM:608184
Leukocyte Adhesion Deficiency, Type Iii
Leukocytosis, Hepatomegaly, Anemia, Abnormality of the lymph nodes, Splenomegaly, Hepatosplenomeg... OMIM:612840
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Hepatomegaly, Decreased proportion of class-switched memory B cells, Decreased proportion of marg... OMIM:619375
Laryngeal Neuroendocrine Tumor
Weight loss, Chronic noninfectious lymphadenopathy, Adrenocorticotropic hormone excess ORPHA:100083
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Lymphadenopathy, Anemia, Splenomegaly, Hepatosplenomegaly, Thrombocytopenia, Colitis, Hemophagocy... OMIM:613101
Candidiasis, Familial, 2
Lymphadenopathy, Chronic oral candidiasis, Hypereosinophilia OMIM:212050
Systemic-Onset Juvenile Idiopathic Arthritis
Hepatomegaly, Pericarditis, Lymphadenopathy, Splenomegaly, Anterior uveitis, Juvenile rheumatoid ... ORPHA:85414
Igg4-Related Pachymeningitis
Sinusitis, Lymphadenitis, Nephritis, Pancreatitis, Parotitis, Eosinophilia ORPHA:449427
Lymphangiectasia, Intestinal
Edema, Stillbirth, Intestinal lymphangiectasia, Lymphopenia, Pedal edema OMIM:152800
Lymphoproliferative Syndrome 2
Hepatomegaly, Ascites, Lymphadenopathy, EBV encephalitis, Splenomegaly, Hepatosplenomegaly, Uveit... OMIM:615122
Lymphoproliferative Syndrome 1
Hepatomegaly, Pericardial effusion, Leukopenia, Stomatitis, Lymphadenopathy, Anemia, Splenomegaly... OMIM:613011
Pleural Mesothelioma
Lymphadenopathy, Hepatomegaly, Weight loss, Pleural effusion ORPHA:50251
Congenital Toxoplasmosis
Hepatomegaly, Failure to thrive in infancy, Ascites, Lymphadenopathy, Anemia, Thrombocytopenia, J... ORPHA:858
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia
Abnormality of the lymph nodes, Chronic noninfectious lymphadenopathy, Nodular goiter, Goiter ORPHA:97290
Schnitzler Syndrome
Leukocytosis, Hepatomegaly, Lymphadenopathy, Anemia, Arthritis, Splenomegaly, Skin rash ORPHA:37748
Familial Papillary Or Follicular Thyroid Carcinoma
Abnormality of the lymph nodes, Chronic noninfectious lymphadenopathy, Nodular goiter, Goiter ORPHA:319487
Omenn Syndrome
Leukocytosis, Hepatomegaly, Erythroderma, Pneumonia, Lymphadenopathy, Failure to thrive, Edema, A... ORPHA:39041
Desmoplastic Small Round Cell Tumor
Ovarian neoplasm, Cachexia, Hepatomegaly, Mediastinal lymphadenopathy, Ascites, Lymphadenopathy, ... ORPHA:83469
Indolent Systemic Mastocytosis
Hepatomegaly, Lymphadenopathy, Abnormal mast cell morphology, Splenomegaly, Skin rash, Maculopapu... ORPHA:98848
Leishmaniasis
Hepatomegaly, Leukopenia, Lymphadenopathy, Rhinitis, Weight loss, Anemia, Splenomegaly, Abnormal ... ORPHA:507
Cyclic Neutropenia
Sinusitis, Enterocolitis, Peritonitis, Lymphadenopathy, Periodontitis, Perianal abscess, Otitis m... ORPHA:2686
Felty Syndrome
Sinusitis, Hepatomegaly, Neutropenia, Pericarditis, Episcleritis, Synovitis, Lymphadenopathy, Chr... ORPHA:47612
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Neutropenia, Erythroderma, Lymphadenopathy, Failure to thrive, Decreased proportion of CD3-positi... ORPHA:169154
Immunodeficiency 54
Hepatomegaly, Lymphadenopathy, Failure to thrive, Splenomegaly, Reduced natural killer cell count... OMIM:609981
Immunodeficiency 91 And Hyperinflammation
Hepatomegaly, Monocytosis, Lymphadenopathy, Failure to thrive, Edema, Membranoproliferative glome... OMIM:619644
Immunodeficiency, Common Variable, 2
Hepatomegaly, Follicular hyperplasia, Bronchiectasis, Lymphadenopathy, Recurrent otitis media, Sp... OMIM:240500
Rosaï-Dorfman Disease
Lymphadenopathy, Anemia ORPHA:158014
Plague
Hepatomegaly, Enlarged mesenteric lymph node, Inflammation of the large intestine, Endocarditis, ... ORPHA:707
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Inflammation of the large intestine, Decreased mean platelet volume, Lymphadenopathy, Failure to ... OMIM:617718
Immunodeficiency With Hyper-Igm, Type 3
Neutropenia, Absence of lymph node germinal center OMIM:606843
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)
Abnormality of the lymph nodes OMIM:136580
Aggressive Systemic Mastocytosis
Leukocytosis, Neutropenia, Thrombocytopenia, Ascites, Leukemia, Lymphadenopathy, Weight loss, Ane... ORPHA:98850
Lymphoproliferative Syndrome, X-Linked, 1
Hepatomegaly, Neutropenia, Infectious encephalitis, Lymphadenopathy, Fulminant hepatitis, Splenom... OMIM:308240
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Abnormal esophagus physiology, Dysphagia, Esophageal neoplasm, Abnormal large intestine morpholog... ORPHA:2198
Immunodeficiency With Hyper-Igm, Type 2
Lymphadenopathy OMIM:605258
Immunodeficiency 27B
Generalized lymphadenopathy, Salmonella osteomyelitis, Osteomyelitis OMIM:615978
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
B lymphocytopenia, Pneumonia, Failure to thrive, Failure to thrive secondary to recurrent infecti... OMIM:601457
Sea-Blue Histiocytosis
Hepatomegaly, Mediastinal lymphadenopathy, Edema, Splenomegaly, Thrombocytopenia, Blepharitis, Se... ORPHA:158029
Immunodeficiency With Hyper-Igm, Type 5
Lymphadenopathy, Epididymitis OMIM:608106
Autoimmune Lymphoproliferative Syndrome
Hepatomegaly, Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, F... OMIM:601859
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Hemolytic anemia, B lymphocytopenia, Failure to thrive in infancy, Eczema, Erythroderma, Psoriasi... OMIM:606367
Autoimmune Lymphoproliferative Syndrome, Type Iia
Increased B cell count, Hepatomegaly, Elevated proportion of CD4-negative, CD8-negative, alpha-be... OMIM:603909
Classic Hodgkin Lymphoma
Hepatomegaly, Lymphadenopathy, Weight loss, Bone marrow hypocellularity, Splenomegaly, Skin rash ORPHA:391
Primary Myelofibrosis
Leukocytosis, Thrombocytosis, Cachexia, Hepatomegaly, Lymphadenopathy, Anemia, Splenomegaly, Hepa... ORPHA:824
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Hepatomegaly, Eczema, Psoriasiform dermatitis, Bronchiectasis, Lymphadenopathy, Arthritis, Spleno... OMIM:616100
Acute Monoblastic/Monocytic Leukemia
Leukocytosis, Weight loss, Anemia, Hypochromic anemia, Lymphocytosis, Acute monocytic leukemia, C... ORPHA:514
Granulomatous Slack Skin
Abnormality of the lymph nodes ORPHA:33111
Kaposi Sarcoma
Abnormality of the spleen, Weight loss, Abnormality of the liver, Generalized lymphadenopathy, Sk... ORPHA:33276
Thymic Carcinoma
Mediastinal lymphadenopathy, Neoplasm of the thymus, Weight loss, Edema, Palpebral edema ORPHA:99868
Griscelli Syndrome
Hepatomegaly, Leukopenia, Ascites, Lymphadenopathy, Hepatitis, Bone marrow hypocellularity, Splen... ORPHA:381
Severe Combined Immunodeficiency, X-Linked
Hepatomegaly, Impaired lymphocyte transformation with phytohemagglutinin, Pneumonia, Failure to t... OMIM:300400
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Absent tonsils, Pneumonia, Lymph node hypoplasia, Failure to thrive, Aplasia of the thymus, Otiti... OMIM:602450
Primary Erythromelalgia
Hypothermia ORPHA:90026
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Impaired lymphocyte transformation with phytohemagglutinin, Pneumonia, Failure to thrive, Recurre... OMIM:600802
Sézary Syndrome
Hepatomegaly, Erythroderma, Lymphadenopathy, Edema, Abnormal lymphocyte morphology, Splenomegaly ORPHA:3162
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
Abnormally low T cell receptor excision circle level, Pneumonia, T lymphocytopenia, Atopic dermat... OMIM:618806
Immunodeficiency, Common Variable, 8, With Autoimmunity
Inflammation of the large intestine, Lymphadenopathy, Splenomegaly, Uveitis, Pancytopenia, Conjun... OMIM:614700
Drug Reaction With Eosinophilia And Systemic Symptoms
Myocarditis, Tubulointerstitial nephritis, Erythroderma, Infectious encephalitis, Angioedema, Lym... ORPHA:139402
Rhabdoid Tumor
Lymphadenopathy, Weight loss, Anemia, Neoplasm of the liver, Thrombocytopenia ORPHA:69077
Adult-Onset Still Disease
Myocarditis, Leukocytosis, Hepatomegaly, Pericarditis, Hepatitis, Bone marrow hypocellularity, Ar... ORPHA:829
Mycosis Fungoides
Lymphadenopathy, Psoriasiform dermatitis, Eczema OMIM:254400
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Eczema, Neutropenia, Erythroderma, Glomerulonephritis, Coombs-positive hemolytic anemia, Lymphade... OMIM:304790
Pulmonary Non-Tuberculous Mycobacterial Infection
Pericardial effusion, Bronchiectasis, Lymphadenopathy, Weight loss, Pleural effusion ORPHA:411703
Cinca Syndrome
Leukocytosis, Hepatomegaly, Lymphadenopathy, Retrobulbar optic neuritis, Edema, Anemia, Abnormal ... ORPHA:1451
Amyloidosis, Familial Visceral
Hepatomegaly, Edema, Splenomegaly, Cholestasis, Skin rash OMIM:105200
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome
Pustule, Myositis, Lymphadenopathy, Acne, Arthritis, Increased inflammatory response, Crohn's dis... ORPHA:69126
Griscelli Syndrome Type 2
Hepatomegaly, Neutropenia, Lymphadenopathy, Splenomegaly, Pancytopenia, Hemophagocytosis, Jaundice ORPHA:79477
American Trypanosomiasis
Myocarditis, Hepatomegaly, Infectious encephalitis, Lymphadenopathy, Edema, Splenomegaly, Skin ra... ORPHA:3386
Melkersson-Rosenthal Syndrome
Inflammatory abnormality of the skin, Lymphadenopathy, Cheilitis, Edema, Periorbital edema ORPHA:2483
Majeed Syndrome
Inflammatory abnormality of the skin, Leukocytosis, Cachexia, Hepatomegaly, Abnormal inflammatory... ORPHA:77297
Eosinophilic Fasciitis
Myositis, Weight loss, Edema, Fasciitis, Arthritis, Abnormal eosinophil morphology, Cellulitis, E... ORPHA:3165
Klatskin Tumor
Hepatomegaly, Cholangiocarcinoma, Lymphadenopathy, Weight loss, Extrahepatic cholestasis, Jaundice ORPHA:99978
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Portal hypertension, Hepatomegaly, Failure to thrive in infancy, Recurrent aspiration pneumonia, ... ORPHA:79124
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Diffuse Cutaneous Mastocytosis
Abnormality of the spleen, Hepatomegaly, Erythroderma, Peau d'orange, Lymphadenopathy, Abnormalit... ORPHA:79456
Glycogen Storage Disease Iv
Ascites, Failure to thrive, Edema, Arthrogryposis multiplex congenita, Polyhydramnios, Cirrhosis,... OMIM:232500
Immunodeficiency 10
Lymphadenopathy, Thrombocytopenia, Amelogenesis imperfecta, Autoimmune hemolytic anemia OMIM:612783
Immunoneurologic Disorder, X-Linked
Neonatal death, Decreased circulating IgG2 level OMIM:300076
Gamma-Heavy Chain Disease
Hepatomegaly, Lymphadenopathy, Abnormal lymphocyte morphology, Anemia, Splenomegaly, Autoimmune t... ORPHA:100026
Fish-Eye Disease
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:79292
Medullary Thyroid Carcinoma
Lymphadenopathy, Weight loss, Nodular goiter, Abnormal liver parenchyma morphology, Primary hyper... ORPHA:1332
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hepatomegaly, Infectious encephalitis, Leukopenia, Lymphadenopathy, Failure to thrive, Edema, Ane... OMIM:603553
Heme Oxygenase 1 Deficiency
Thrombocytosis, Hepatomegaly, Asplenia, Coombs-positive hemolytic anemia, Lymphadenopathy, Nephri... OMIM:614034
Cold Agglutinin Disease
Lymphadenopathy, Hepatomegaly, Hemolytic anemia, Splenomegaly ORPHA:56425
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Absent tonsils, Hepatomegaly, Decreased proportion of naive T cells, Pneumonia, Lymph node hypopl... ORPHA:276
Visceral Myopathy 2
Dysphagia, Rectal prolapse, Megaduodenum, Intestinal pseudo-obstruction, Volvulus, Esophagitis, I... OMIM:619350
Epidermolysis Bullosa With Diaphragmatic Hernia
Neonatal death OMIM:226735
Nephroblastoma
Lymphadenopathy, Weight loss, Neoplasm of the liver ORPHA:654
Inflammatory Bowel Disease (Crohn Disease) 30
Abnormal intestine morphology, Esophagitis, Duodenitis, Gastritis, Pancolitis, Protein-losing ent... OMIM:619079
Pediatric Systemic Lupus Erythematosus
Pericardial effusion, Leukopenia, Microangiopathic hemolytic anemia, Lymphadenopathy, Ascites, Ed... ORPHA:93552
Immunodeficiency With Hyper-Igm, Type 1
Hepatomegaly, Neutropenia, Stomatitis, Failure to thrive, Chronic hepatitis, Sclerosing cholangit... OMIM:308230
Niemann-Pick Disease, Type A
Hepatomegaly, Ascites, Lymphadenopathy, Failure to thrive, Bone-marrow foam cells, Splenomegaly, ... OMIM:257200
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
B lymphocytopenia, Impaired lymphocyte transformation with phytohemagglutinin, Nonimmune hydrops ... OMIM:619313
Roifman Syndrome
Hepatomegaly, Eczema, Hip contracture, Lymphadenopathy, Recurrent otitis media, Splenomegaly, Rec... OMIM:616651
Macrophage Activation Syndrome
Hepatomegaly, Neutropenia, Lymphadenopathy, Hepatitis, Anemia, Splenomegaly, Increased inflammato... ORPHA:158061
Aregenerative Anemia
Neutropenia, Abnormal proportion of CD8-positive T cells, Lymphadenopathy, Bone marrow hypocellul... ORPHA:101096
Graft Versus Host Disease
Inflammatory abnormality of the skin, Pneumonia, Stomatitis, Lymphadenopathy, Failure to thrive, ... ORPHA:39812
Boutonneuse Fever
Leukopenia, Lymphadenopathy, Maculopapular exanthema, Skin rash, Cervical lymphadenopathy, Thromb... ORPHA:83313
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Synovitis, Hip osteoarthritis, Lymphadenopathy, Oligoarthritis, Weight loss, Knee osteoarthritis,... ORPHA:85408
Combined Immunodeficiency Due To Partial Rag1 Deficiency
B lymphocytopenia, Interstitial pneumonitis, Neutropenia in presence of anti-neutropil antibodies... ORPHA:231154
Nodular Non-Suppurative Panniculitis
Hepatomegaly, Weight loss, Edema, Panniculitis, Splenomegaly, Inflammatory abnormality of the eye ORPHA:33577
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hepatomegaly, Infectious encephalitis, Leukopenia, Lymphadenopathy, Failure to thrive, Anemia, Sp... OMIM:267700
Hypocomplementemic Urticarial Vasculitis
Hepatomegaly, Pericardial effusion, Ascites, Angioedema, Lymphadenopathy, Episcleritis, Arthritis... ORPHA:36412
Roifman Syndrome
Eczema, Hip contracture, Lymphadenopathy, Recurrent otitis media, Hepatosplenomegaly, Recurrent p... ORPHA:353298
Acquired Hypertrichosis Lanuginosa
Lymphadenopathy, Ovarian neoplasm, Weight loss ORPHA:2221
Immunodeficiency 13
B lymphocytopenia, Bronchiectasis, Recurrent otitis media, Decreased proportion of CD4-positive h... OMIM:615518
Mixed Connective Tissue Disease
Myocarditis, Hepatomegaly, Keratoconjunctivitis sicca, Mediastinal lymphadenopathy, Pericarditis,... ORPHA:809
Mevalonic Aciduria
Fluctuating splenomegaly, Leukocytosis, Failure to thrive in infancy, Normocytic hypoplastic anem... OMIM:610377
Castleman Disease
Mediastinal lymphadenopathy, Lymphadenopathy, Weight loss, Anasarca, Anemia, Jaundice, Generalize... ORPHA:160
Hernia, Anterior Diaphragmatic
Neonatal death OMIM:306950
Common Variable Immunodeficiency
Failure to thrive in infancy, Pneumonia, Bronchiectasis, Lymphadenopathy, Chronic otitis media, S... ORPHA:1572
Legionnaires Disease
Myocarditis, Pericarditis, Infectious encephalitis, Endocarditis, Lymphadenopathy, Hepatitis, Bon... ORPHA:549
Systemic Mastocytosis With Associated Hematologic Neoplasm
Leukocytosis, Chronic lymphatic leukemia, Hepatomegaly, Normocytic anemia, Lymphadenopathy, Normo... ORPHA:98849
Thymic Aplasia
Sinusitis, Eczematoid dermatitis, Decreased proportion of naive T cells, Pneumonia, Coombs-positi... ORPHA:83471
Sting-Associated Vasculopathy, Infantile-Onset
Thrombocytosis, Pustule, Leukopenia, Myositis, Failure to thrive, Paratracheal lymphadenopathy, A... OMIM:615934
Periodic Fever, Familial, Autosomal Dominant
Hepatomegaly, Myositis, Oligoarthritis, Hepatic amyloidosis, Erysipelas, Maculopapular exanthema,... OMIM:142680
Thymic Neuroendocrine Tumor
Pituitary null cell adenoma, Mediastinal lymphadenopathy, Neoplasm of the thymus, Weight loss, Pi... ORPHA:97289
Combined Immunodeficiency Due To Crac Channel Dysfunction
Hepatomegaly, Hypocalcification of dental enamel, Pneumonia, Lymphadenopathy, Chronic otitis medi... ORPHA:169090
Kikuchi-Fujimoto Disease
Myocarditis, Hepatomegaly, Neutropenia, Pustule, Leukopenia, Lymphadenopathy, Weight loss, Anemia... ORPHA:50918
Autoimmune Lymphoproliferative Syndrome
Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, Neutropenia in ... ORPHA:3261
Anaplastic Thyroid Carcinoma
Lymphadenopathy, Weight loss, Nodular goiter, Goiter ORPHA:142
2-Methylbutyryl-Coa Dehydrogenase Deficiency
Hypothermia OMIM:610006
Acute Promyelocytic Leukemia
Leukocytosis, Neutropenia, Leukopenia, Stomatitis, Lymphadenopathy, Weight loss, Anemia, Pancytop... ORPHA:520
Q Fever
Myocarditis, Hepatomegaly, Pericarditis, Pericardial effusion, Infectious encephalitis, Pneumonia... ORPHA:781
Brucellosis
Myocarditis, Lymphadenopathy, Knee osteoarthritis, Septic arthritis, Splenomegaly, Hypersplenism,... ORPHA:1304
Immunodeficiency 57 With Autoinflammation
B lymphocytopenia, Inflammation of the large intestine, Bronchiectasis, Failure to thrive, Gastri... OMIM:618108
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Hypothermia, Patent ductus arteriosus OMIM:616501
Poems Syndrome
Thrombocytosis, Pericardial effusion, Ascites, Polycythemia, Lymphadenopathy, Edema, Weight loss,... ORPHA:2905
X-Linked Lymphoproliferative Disease
Myocarditis, Inflammation of the large intestine, Lymphadenopathy, Splenomegaly, Absent natural k... ORPHA:2442
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Neonatal death, Patent ductus arteriosus OMIM:601612
Thyroid Lymphoma
Lymphadenopathy, Hashimoto thyroiditis, Goiter ORPHA:97285
Scrub Typhus
Myocarditis, Infectious encephalitis, Lymphadenopathy, Anterior uveitis, Splenomegaly, Skin rash ORPHA:83317
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Leukocytosis, Pericarditis, Peritonitis, Lymphadenopathy, Myositis, Fasciitis, Arthritis, Splenom... ORPHA:32960
Primary Intestinal Lymphangiectasia
Pericardial effusion, Abnormal lymphatic vessel morphology, Ascites, Edema, Weight loss, Anemia, ... ORPHA:90362
Familial Hemophagocytic Lymphohistiocytosis
Hepatomegaly, Neutropenia, Erythroderma, Infectious encephalitis, Lymphadenopathy, Anemia, Spleno... ORPHA:540
Mitochondrial Complex I Deficiency, Nuclear Type 30
Neonatal death OMIM:301021
Pancreatoblastoma
Weight loss, Pancreatic calcification, Abnormality of the lymph nodes, Jaundice ORPHA:677
Chediak-Higashi Syndrome
Hepatomegaly, Neutropenia, Leukopenia, Lymphadenopathy, Abnormal dense granules, Giant neutrophil... OMIM:214500
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Eczema, Neutropenia, Tubulointerstitial nephritis, Neutropenia in presence of anti-neutropil anti... ORPHA:37042
Neutropenia, Lethal Congenital, With Eosinophilia
Neonatal death OMIM:257100
Lymphatic Malformation 6
Nonimmune hydrops fetalis, Ascites, Edema, Chylothorax, Facial edema, Genital edema, Intestinal l... OMIM:616843
Developmental And Epileptic Encephalopathy 78
Hypothermia OMIM:618557
Middle Ear Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy ORPHA:100084
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Leukocytosis, Thrombocytosis, Hepatomegaly, Eczema, Leukopenia, Lymphadenopathy, Panniculitis, An... OMIM:615688
Familial Pancreatic Carcinoma
Peritoneal abscess, Lymphadenopathy, Weight loss, Pancreatic adenocarcinoma, Neoplasm of the live... ORPHA:1333
Spontaneous Periodic Hypothermia
Hypothermia ORPHA:29822
Pulmonary Capillary Hemangiomatosis
Mediastinal lymphadenopathy, Pericardial effusion, Lymphadenopathy, Pulmonary edema, Pedal edema,... ORPHA:199241
Lig4 Syndrome
Leukocytosis, Hepatomegaly, Acute leukemia, Lymphadenopathy, Pancytopenia, Cryptorchidism ORPHA:99812
Immunodeficiency 85 And Autoimmunity
Failure to thrive in infancy, Eczema, Erythroderma, Oligoarthritis, Reduced natural killer cell c... OMIM:619510
Acute Interstitial Pneumonia
Reduced hematocrit, Pericardial effusion, Bronchiectasis, Lymphadenopathy, Peripheral edema, Pleu... ORPHA:79126
Gallbladder Neuroendocrine Tumor
Ascites, Biliary tract obstruction, Weight loss, Biliary tract neoplasm, Chronic noninfectious ly... ORPHA:100086
Thanatophoric Dysplasia, Glasgow Variant
Neonatal death OMIM:273680
Pgm3-Cdg
Eczema, Neutropenia, Neutropenia in presence of anti-neutropil antibodies, Chronic otitis media, ... ORPHA:443811
Nk-Cell Enteropathy
Intestinal polyp, Duodenal ulcer, Gastric ulcer, Abnormal gastric mucosa morphology, Stercoral ul... ORPHA:263665
Menkes Disease
Hypothermia OMIM:309400
Squamous Cell Carcinoma Of The Anal Canal
Lymphadenopathy, Neoplasm of the liver ORPHA:424019
Malt Lymphoma
Mediastinal lymphadenopathy, Posterior uveitis, Lymphadenopathy, Weight loss, Anemia ORPHA:52417
Idiopathic Congenital Hypothyroidism
Hypothermia ORPHA:95717
Hereditary Amyloidosis With Primary Renal Involvement
Hepatomegaly, Tubulointerstitial nephritis, Lymphadenopathy, Weight loss, Anemia, Abnormality of ... ORPHA:85450
Dehydrated Hereditary Stomatocytosis
Congenital hemolytic anemia, Macrocytic anemia, Schistocytosis, Increased mean corpuscular volume... ORPHA:3202
Microcolon
Microcolon OMIM:251400
Fetal Akinesia, Respiratory Insufficiency, Microcephaly, Polymicrogyria, And Dysmorphic Facies
Neonatal death OMIM:619602
Farber Disease
Hepatic fibrosis, Ascites, Lymphadenopathy, Failure to thrive, Anemia, Arthritis, Intrahepatic ch... ORPHA:333
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3
Neonatal death, Microcolon OMIM:619362
Spondyloenchondrodysplasia With Immune Dysregulation
Neutropenia, Pneumonia, Lymphadenopathy, Recurrent otitis media, Autoimmune thrombocytopenia, Rhe... OMIM:607944
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
B lymphocytopenia, Impaired lymphocyte transformation with phytohemagglutinin, Failure to thrive ... ORPHA:35078
Congenital Arthrogryposis With Anterior Horn Cell Disease
Neonatal death, High palate OMIM:611890
Cutaneous Neuroendocrine Carcinoma
Lymphoid leukemia, Chronic noninfectious lymphadenopathy ORPHA:79140
Waldenström Macroglobulinemia
Hepatomegaly, Normocytic anemia, Leukemia, Lymphadenopathy, Splenomegaly, Pleural effusion, Pedal... ORPHA:33226
H Syndrome
Psoriasiform dermatitis, Bronchiectasis, Lymphadenopathy, Chronic rhinitis, Lipodystrophy, Hernia... ORPHA:168569
Chédiak-Higashi Syndrome
Abnormal natural killer cell morphology, Neutropenia, Thrombocytopenia, Pericardial effusion, Lym... ORPHA:167
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Death in infancy, Intestinal malrotation, Hypoperistalsis, Abnormality of the gastrointestinal tr... ORPHA:2241
Immunodeficiency 82 With Systemic Inflammation
Lymphadenopathy, Hepatitis, Splenomegaly, Gastritis, Crohn's disease, B lymphocytopenia, Osteomye... OMIM:619381
Lymphatic Malformation 7
Nonimmune hydrops fetalis, Pericardial effusion, Edema, Anemia, Facial edema, Pulmonary edema, Ly... OMIM:617300
Meconium Ileus
Meconium ileus, Microcolon OMIM:614665
Hyperimmunoglobulinemia D With Periodic Fever
Hepatomegaly, Peritonitis, Lymphadenopathy, Arthritis, Recurrent aphthous stomatitis ORPHA:343
Igg4-Related Submandibular Gland Disease
Abnormal salivary gland morphology, Cholangitis, Prostatitis, Lymphadenopathy, Abnormal pancreas ... ORPHA:449432
Permanent Congenital Hypothyroidism
Hypothermia ORPHA:226292
Lymphangiectasia, Pulmonary, Congenital
Pulmonary lymphangiectasia, Nonimmune hydrops fetalis, Ascites, Edema, Facial edema, Polyhydramni... OMIM:265300
Coccidioidomycosis
Lymphadenopathy, Pleural empyema, Atypical scarring of skin, Eosinophilia, Morbilliform rash, Per... ORPHA:228123
Histiocytosis-Lymphadenopathy Plus Syndrome
Hepatomegaly, Pancreatic hypoplasia, Flexion contracture of toe, Episcleritis, Elbow flexion cont... OMIM:602782
Familial Mediterranean Fever
Pericarditis, Ascites, Peritonitis, Lymphadenopathy, Pancreatitis, Arthritis, Splenomegaly, Skin ... ORPHA:342
Carney Triad
Mediastinal lymphadenopathy, Ascites, Lymphadenopathy, Anemia, Pheochromocytoma ORPHA:139411
Hennekam Syndrome
Pulmonary lymphangiectasia, Pericardial effusion, Ascites, Lymphadenopathy, Lymphangioma, Chyloth... ORPHA:2136
Idiopathic Hypereosinophilic Syndrome
Cholangitis, Eczema, Portal fibrosis, Angioedema, Splenomegaly, Hepatosplenomegaly, Eosinophilia,... ORPHA:3260
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Microvesicular hepatic steatosis, Failure to thrive in infancy, Hepatomegaly, Macronodular cirrho... OMIM:619418
Igg4-Related Dacryoadenitis And Sialadenitis
Abnormal salivary gland morphology, Keratoconjunctivitis sicca, Tubulointerstitial nephritis, Myo... ORPHA:79078
Visceral Myopathy 1
Dysphagia, Aganglionic megacolon, Megaduodenum, Intestinal pseudo-obstruction, Pancreatitis, Micr... OMIM:155310
Multiple Myeloma
Lymphadenopathy, Weight loss, Anemia, Splenomegaly, Pleural effusion ORPHA:29073
Primary Hepatic Neuroendocrine Carcinoma
Hepatomegaly, Ascites, Biliary tract obstruction, Weight loss, Hepatic cysts, Neoplasm of the liv... ORPHA:100085
Immunodeficiency 87 And Autoimmunity
Necrotizing enterocolitis, Hepatomegaly, Cervical lymphadenopathy, Ascites, Small for gestational... OMIM:619573
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Hypothermia OMIM:245400
Chikungunya
Infectious encephalitis, Erythema nodosum, Synovitis, Lymphadenopathy, Arthritis, Facial edema, M... ORPHA:324625
Ileal Neuroendocrine Tumor
Iron deficiency anemia, Lymphadenopathy, Weight loss, Edema, Extrahepatic cholestasis ORPHA:100078
Jejunal Neuroendocrine Tumor
Iron deficiency anemia, Lymphadenopathy, Weight loss, Edema, Extrahepatic cholestasis ORPHA:100077
Sarcoidosis
Tubulointerstitial nephritis, Lymphadenopathy, Parotitis, Enlargement of parotid gland, Uveitis, ... ORPHA:797
Behçet Disease
Keratoconjunctivitis sicca, Pericarditis, Infectious encephalitis, Endocarditis, Lymphadenopathy,... ORPHA:117
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5
Microcolon, Intestinal malrotation OMIM:619431
Neuroendocrine Tumor Of The Colon
Weight loss, Chronic noninfectious lymphadenopathy, Hepatomegaly ORPHA:100080
Proteasome-Associated Autoinflammatory Syndrome 1
Lymphadenopathy, Adipose tissue loss, Splenomegaly, Parotitis, Elevated circulating thyroid-stimu... OMIM:256040
Bresek Syndrome
Aganglionic megacolon, Neonatal death, Cleft palate ORPHA:85284
Sarcoidosis, Susceptibility To, 1
Abnormal salivary gland morphology, Hepatomegaly, Inflammation of the large intestine, Mediastina... OMIM:181000
Lymphangioleiomyomatosis
Chylopericardium, Shagreen patch, Ascites, Lymphadenopathy, Abnormality of the lymphatic system, ... ORPHA:538
Sudden Infant Death-Dysgenesis Of The Testes Syndrome
Hypothermia ORPHA:168593
Arthrogryposis Multiplex Congenita 6
Neonatal death, Death in infancy, Death in childhood OMIM:619334
Primary Sjögren Syndrome
Tubulointerstitial nephritis, Lymphadenopathy, Normochromic anemia, Parotitis, Optic neuritis, Ar... ORPHA:289390
Orthostatic Hypotension 1
Intermittent hypothermia OMIM:223360
Fetal Gaucher Disease
High palate, Neonatal death, Death in infancy, Stillbirth ORPHA:85212
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Hypothermia ORPHA:226313
Faciocardiomelic Dysplasia, Lethal
Neonatal death, Microglossia OMIM:227270
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hepatocellular necrosis, Hypothermia OMIM:251880
Carcinoid Syndrome
Chronic noninfectious lymphadenopathy, Hepatic necrosis ORPHA:100093
Bronchial Neuroendocrine Tumor
Hepatomegaly, Pneumonia, Weight loss, Chronic noninfectious lymphadenopathy, Elevated circulating... ORPHA:97287
Familial Thyroid Dyshormonogenesis
Hypothermia ORPHA:95716
Blau Syndrome
Abnormal salivary gland morphology, Abnormal inflammatory response, Pericarditis, Synovitis, Post... ORPHA:90340
Mitochondrial Complex I Deficiency, Nuclear Type 35
Neonatal death OMIM:619003
Kawasaki Disease
Myocarditis, Leukocytosis, Conjunctivitis, Pericarditis, Cheilitis, Edema, Hepatitis, Arthritis, ... ORPHA:2331
Igg4-Related Ophthalmic Disease
Sinusitis, Cholangitis, Abnormality of the anterior pituitary, Prostatitis, Lymphadenopathy, Retr... ORPHA:449563
Dyssegmental Dysplasia, Silverman-Handmaker Type
Neonatal death OMIM:224410
Neuroendocrine Tumor Of The Rectum
Weight loss, Chronic noninfectious lymphadenopathy, Hepatomegaly ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Weight loss, Chronic noninfectious lymphadenopathy, Hepatomegaly ORPHA:100082
Ceroid Lipofuscinosis, Neuronal, 10
Neonatal death OMIM:610127
Cushing Syndrome Due To Ectopic Acth Secretion
Adrenal hyperplasia, Leukocytosis, Neoplasm of the thymus, Weight loss, Pancreatic adenocarcinoma... ORPHA:99889
Duodenal Neuroendocrine Tumor
Iron deficiency anemia, Lymphadenopathy, Edema, Insulinoma, Intrahepatic cholestasis with episodi... ORPHA:100076
Crimean-Congo Hemorrhagic Fever
Myocarditis, Lymphadenopathy, Splenomegaly, Parotitis, Acute pancreatitis, Pancytopenia, Morbilli... ORPHA:99827
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Neonatal death OMIM:228940
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Neonatal death, Stillbirth OMIM:236500
Meningococcal Meningitis
Hypothermia ORPHA:33475
Larsen-Like Syndrome, Lethal Type
Neonatal death OMIM:245650
Marburg Hemorrhagic Fever
Pericarditis, Leukopenia, Neutrophilia in presence of infection, Lymphadenopathy, Abnormal lympho... ORPHA:99826
Tangier Disease
Orange discolored tonsils, Anemia, Hepatosplenomegaly, Chronic noninfectious lymphadenopathy, Thr... ORPHA:31150
Cherubism
Submandibular lymph node enlargement, Macular scar OMIM:118400
Myotubular Myopathy With Abnormal Genital Development
High palate, Neonatal death, Death in infancy OMIM:300219
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Ileal atresia, Microcolon, Patent ductus arteriosus OMIM:619351
Congenital Hypothyroidism
Hypothermia ORPHA:442
Neuroendocrine Tumor Of Stomach
Iron deficiency anemia, Weight loss, Chronic noninfectious lymphadenopathy, Hepatomegaly ORPHA:100075
Combined Oxidative Phosphorylation Deficiency 40
Neonatal death, Death in infancy, Decreased circulating cortisol level OMIM:618835
Congenital Enterovirus Infection
Hypothermia ORPHA:292
Combined Oxidative Phosphorylation Deficiency 42
Neonatal death, Death in infancy, Decreased circulating cortisol level OMIM:618839
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency
Neonatal death OMIM:602199
Riddle Syndrome
Pneumonia, Weight loss, Chronic sinusitis, Arthritis, Generalized lymphadenopathy, Otitis media, ... ORPHA:420741
Leptospirosis
Hepatomegaly, Pericarditis, Lymphadenopathy, Hepatitis, Optic neuritis, Uveitis, Skin rash, Throm... ORPHA:509
Scleroderma
Abnormal large intestine morphology, Abnormality of the small intestine, Abnormal stomach morphol... ORPHA:801
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities
Hypothermia OMIM:618493
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Hypothermia OMIM:618775
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Neonatal death, Esophageal varix OMIM:263200
Malakoplakia
Inflammatory abnormality of the skin, Urinary bladder inflammation, Skin rash, Orchitis, Follicul... ORPHA:556
Thanatophoric Dysplasia, Type Ii
Neonatal death OMIM:187601
Systemic Sclerosis
Dysphagia, Abnormality of the small intestine, Abnormal large intestine morphology, Abnormal stom... ORPHA:90291
Carnitine-Acylcarnitine Translocase Deficiency
Hypothermia ORPHA:159
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease
Microcolon, Aganglionic megacolon, Ileus, Hypohidrosis ORPHA:163746
Genetic Transient Congenital Hypothyroidism
Hypothermia ORPHA:226316
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Neonatal death OMIM:601376
Fg Syndrome Type 1
Pyloric stenosis, High palate, Abnormal large intestine morphology, Anal atresia, Gastroesophagea... ORPHA:93932
Ulnar Agenesis And Endocardial Fibroelastosis
Neonatal death OMIM:276822
Boomerang Dysplasia
Neonatal death OMIM:112310
Glutamine Deficiency, Congenital
Neonatal death OMIM:610015
Adenocarcinoma Of The Anal Canal
Lymphadenopathy, Neoplasm of the liver ORPHA:424016
Hypothyroidism Due To Tsh Receptor Mutations
Hypothermia ORPHA:90673
Lethal Congenital Contracture Syndrome 1
Neonatal death OMIM:253310
Autosomal Recessive Malignant Osteopetrosis
Hepatomegaly, Lymphadenopathy, Chronic rhinitis, Anemia, Splenomegaly, Otitis media ORPHA:667
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hypothermia ORPHA:26793
Combined Oxidative Phosphorylation Deficiency 37
Hypothermia OMIM:618329
Ethylene Glycol Poisoning
Renal tubular epithelial necrosis, Hypothermia ORPHA:31826
Thanatophoric Dysplasia, Type I
Neonatal death OMIM:187600
Bannayan-Riley-Ruvalcaba Syndrome
Abnormal large intestine morphology, Narrow palate, Lipoma, Intestinal polyposis, Hashimoto thyro... ORPHA:109
Dopamine Beta-Hydroxylase Deficiency
Hypothermia ORPHA:230
Multiple Acyl-Coa Dehydrogenase Deficiency
Neonatal death, Hepatic periportal necrosis OMIM:231680
Multiple Endocrine Neoplasia Type 2
Pheochromocytoma, Reduced subcutaneous adipose tissue, Neoplasm of the liver, Primary hyperparath... ORPHA:653
Pallister-Hall Syndrome
Cleft palate, Neonatal death, Microglossia, Patent ductus arteriosus, Anal atresia, Panhypopituit... OMIM:146510
Tbck-Related Intellectual Disability Syndrome
Hypothermia ORPHA:488632
3-Hydroxy-3-Methylglutaric Aciduria
Hypothermia ORPHA:20
African Trypanosomiasis
Abnormal prolactin level, Hepatomegaly, Conjunctivitis, Myocarditis, Pericarditis, Lymphadenopath... ORPHA:3385
Isolated Thyroid-Stimulating Hormone Deficiency
Hypothermia ORPHA:90674
Short-Rib Thoracic Dysplasia 12
Hamartoma of tongue, Median cleft lip and palate, Neonatal death, Patent ductus arteriosus, Intes... OMIM:269860
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Hypothermia, Patent ductus arteriosus ORPHA:17
Alexander Disease
Hypothermia ORPHA:58
Adult-Onset Autosomal Dominant Leukodystrophy
Hypothermia ORPHA:99027
Heart Defects, Congenital, And Other Congenital Anomalies
Colon perforation, Microcolon, Intestinal malrotation, Patent ductus arteriosus OMIM:600001
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Neonatal death, Death in infancy, Death in adolescence, Death in childhood OMIM:619055
Greenberg Dysplasia
Abnormal intestine morphology, Neonatal death, Bone marrow hypocellularity, Stillbirth, Intestina... OMIM:215140
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Hypothermia ORPHA:79282
Developmental And Epileptic Encephalopathy 89
Neonatal death, Cleft palate, Death in childhood OMIM:619124
Neuroendocrine Neoplasm Of Appendix
Ovarian neoplasm, Chronic noninfectious lymphadenopathy, Hepatomegaly, Adrenocorticotropic hormon... ORPHA:100079
Neuroleptic Malignant Syndrome
Hypothermia ORPHA:94093
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Cleft palate, Meckel diverticulum, Duodenal atresia, Neonatal death, Congenital shortened small i... OMIM:265380
Mitochondrial Dna-Associated Leigh Syndrome
Hypothermia ORPHA:255210
Gaucher Disease, Perinatal Lethal
Neonatal death, Dysphagia OMIM:608013
Aromatic L-Amino Acid Decarboxylase Deficiency
Intermittent hypothermia OMIM:608643
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Cleft palate, Hamartoma of tongue, Neonatal death, Anal atresia, Esophageal diverticulum OMIM:617925
Menkes Disease
Hypothermia ORPHA:565
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Neonatal death OMIM:618810
Raine Syndrome
High palate, Neonatal death, Cleft palate, Protruding tongue OMIM:259775
Meacham Syndrome
Death in infancy, Neonatal death, Stillbirth, Patent ductus arteriosus, Death in childhood OMIM:608978
Surfactant Metabolism Dysfunction, Pulmonary, 1
Neonatal death, Death in infancy OMIM:265120
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Neonatal death OMIM:619167
Atelosteogenesis, Type I
Neonatal death, Cleft palate, Stillbirth OMIM:108720
Epidermolysis Bullosa, Lethal Acantholytic
Neonatal death OMIM:609638
Hypothyroidism, Congenital, Nongoitrous, 2
Hypothermia OMIM:218700
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Hypothermia ORPHA:226307
Occipital Horn Syndrome
Hypothermia ORPHA:198
Fontaine Progeroid Syndrome
High, narrow palate, Death in infancy, Neonatal death, Reduced subcutaneous adipose tissue, Paten... OMIM:612289
Restrictive Dermopathy
Microcolon, Submucous cleft hard palate, Patent ductus arteriosus ORPHA:1662
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Hypothermia ORPHA:293987
Renal Dysplasia-Limb Defects Syndrome
Neonatal death, High palate OMIM:266910
Surfactant Metabolism Dysfunction, Pulmonary, 3
Neonatal death, Death in infancy OMIM:610921
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Hypothermia, Patent ductus arteriosus ORPHA:438213
Hereditary Sensory And Autonomic Neuropathy Type 4
Hypothermia ORPHA:642
Biliary, Renal, Neurologic, And Skeletal Syndrome
Neonatal death, Gastroesophageal reflux, Esophageal varix, Patent ductus arteriosus OMIM:619534
Visceral Steatosis, Congenital
Neonatal death OMIM:228100

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.

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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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