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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
Hepatomegaly, Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy OMIM:618852
Immunodeficiency 57 With Autoinflammation
Skin rash, Gastritis, Perianal abscess, Bronchiectasis, T lymphocytopenia, Inflammation of the la... 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
Lymphadenitis, Granuloma, Lymphadenopathy OMIM:614893
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Abnormally low T cell receptor excision circle level, Pancytopenia, Generalized lymphadenopathy, ... OMIM:618986
Immunodeficiency 68
Recurrent skin infections, Abscess, Lymphadenitis, T lymphocytopenia, B lymphocytopenia, Septic a... OMIM:612260
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Hemolytic anemia, Acute pancreatitis, Abscess, Eczema, Perianal abscess, Lymphadenitis, Splenomeg... OMIM:618935
Combined Immunodeficiency Due To Zap70 Deficiency
Recurrent bacterial skin infections, Autoimmune hemolytic anemia, Skin rash, Eosinophilia, Pneumo... ORPHA:911
Centrifugal Lipodystrophy
Reduced subcutaneous adipose tissue, Inflammatory abnormality of the skin, Lipoatrophy, Lack of f... ORPHA:90156
Hereditary Progressive Mucinous Histiocytosis
Mucinous histiocytosis, Lymphadenopathy ORPHA:158025
Pulmonary Nodular Lymphoid Hyperplasia
Mediastinal lymphadenopathy, Plasmacytosis, Follicular hyperplasia ORPHA:60026
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)
Abnormal lymph node morphology OMIM:136580
Immunodeficiency 104
Hepatomegaly, Eczema, Pneumonia, Splenomegaly, Chronic mucocutaneous candidiasis, Lymphadenopathy... OMIM:608971
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
Mantle Cell Lymphoma
Splenomegaly, Weight loss, Lymphadenopathy ORPHA:52416
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Hepatomegaly, Abnormal B cell count, Abnormal T cell count, Autoimmune hemolytic anemia, Eosinoph... ORPHA:331206
Squamous Cell Carcinoma Of The Esophagus
Lymphadenopathy ORPHA:99977
Immunodeficiency 38 With Basal Ganglia Calcification
Lymphadenopathy OMIM:616126
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
Hepatosplenomegaly, Jaundice, Anemia, Lymphadenopathy OMIM:312500
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Hepatomegaly, Recurrent bacterial skin infections, Liver abscess, Osteomyelitis, Discoid lupus ra... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Hepatomegaly, Recurrent bacterial skin infections, Liver abscess, Osteomyelitis, Discoid lupus ra... OMIM:233710
Immunodeficiency 52
Decreased proportion of CD4-positive T cells, Failure to thrive, Autoimmune thrombocytopenia, Spl... OMIM:617514
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Hepatomegaly, Recurrent bacterial skin infections, Liver abscess, Osteomyelitis, Discoid lupus ra... OMIM:233690
Immunodeficiency 75 With Lymphoproliferation
Follicular hyperplasia, Bronchiectasis, Hepatosplenomegaly, Decreased proportion of class-switche... OMIM:619126
Granulomatous Disease, Chronic, X-Linked
Hepatomegaly, Recurrent bacterial skin infections, Liver abscess, Osteomyelitis, Discoid lupus ra... OMIM:306400
Selective Igm Deficiency
Fasciitis, Lymphadenitis, Recurrent cutaneous fungal infections, Decreased proportion of transiti... ORPHA:331235
Pseudo-Torch Syndrome 3
Lymphadenitis, Leukocytosis, Congenital thrombocytopenia, Anemia OMIM:618886
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatit... ORPHA:444463
Follicular Lymphoma
Abnormal peritoneum morphology, Lymphedema, Splenomegaly, Mediastinal lymphadenopathy, Lymphadeno... ORPHA:545
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Hepatomegaly, Eczema, Lymphadenitis, Leukocytosis, Splenomegaly, Cholestasis, Lymphadenopathy, In... OMIM:615895
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Splenomegaly, Bronchiectasis, Decreased proportion of class-switched memory B cells, Lymphadenopa... OMIM:615513
Immunodeficiency 76
Splenomegaly, Recurrent pneumonia, Lymphadenopathy, T lymphocytopenia, Colitis, B lymphocytopenia... OMIM:619164
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency
Lymphadenitis, Salmonella osteomyelitis, Pneumonia ORPHA:319552
Adenocarcinoma Of The Esophagus
Obesity, Lymphadenopathy ORPHA:99976
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Microsporidiosis
Myositis, Sinusitis, Cholangitis, Abnormality of the spleen, Lymphadenitis, Abnormality of the pa... ORPHA:2552
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hepatomegaly, Skin rash, Edema, Splenomegaly, Jaundice, Lymphadenopathy, Anemia, Conjunctivitis, ... OMIM:603552
Rat-Bite Fever
Pericarditis, Maculopapular exanthema, Parotitis, Skin rash, Erythema nodosum, Lymphadenitis, Pus... ORPHA:31205
Hyper-Igd Syndrome
Neutrophilia, Skin rash, Lymphadenitis, Leukocytosis, Splenomegaly, Lymphadenopathy, Hepatospleno... OMIM:260920
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Cervical lymphadenopathy, B lymphocytopenia, Failure to thrive in infancy, Abnormally low T cell ... OMIM:618987
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Failure to thrive, Sinusitis, Inflammatory abnormality of the skin, Absence of lymph node germina... ORPHA:277
Lymphatic Filariasis
Predominantly lower limb lymphedema, Glomerulonephritis, Lymphedema, Orchitis, Lymphadenitis, Abn... ORPHA:2035
Mast Cell Sarcoma
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Weight loss, Mastocytosis ORPHA:66661
Immunodeficiency 103, Susceptibility To Fungal Infections
Abnormal B cell count, Hypereosinophilia, Lymphadenopathy, Chronic oral candidiasis, Abnormal pro... OMIM:212050
Immunodeficiency 105
Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, Skin rash, Absence of l... OMIM:619924
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Mediastinal lymphadeno... OMIM:300853
Whim Syndrome
Sinusitis, Severe periodontitis, Pneumonia, Lymphadenitis, Recurrent pneumonia, Neutropenia, Abno... ORPHA:51636
Pseudomyxoma Peritonei
Abnormal peritoneum morphology, Weight loss, Lymphadenopathy, Inflammation of the large intestine... ORPHA:26790
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Herpes simplex encephalitis, Bronchiectasis, Hepatosplenomegaly, Increased proportion of memory T... OMIM:618982
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Decreased proportion of CD4+CD25+ regulatory T cells, Follicular hyperplasia, Autoimmune thromboc... OMIM:619846
Mu-Heavy Chain Disease
Hepatomegaly, Abnormal B cell count, Splenomegaly, Lymphadenopathy, Weight loss, Anemia ORPHA:100024
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Splenomegaly, Hepatomegaly, Weight loss, Lymphadenopathy ORPHA:86893
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Autoimmune hemolytic anemia, Fluctuating splenomegaly, Autoimmune thrombocytopenia, Neutropenia i... OMIM:619220
Immunodeficiency 64 With Lymphoproliferation
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... OMIM:618534
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Chronic oral candidiasis, Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Recurrent pneumonia, Neu... OMIM:150550
Chronic Intestinal Pseudoobstruction
Pyloric stenosis, Patent ductus arteriosus, Abnormal intestine morphology, Intestinal malrotation ORPHA:2978
Immunodeficiency 27A
Increased inflammatory response, Pneumonia, Splenomegaly, Leukocytosis, Lymphadenopathy, Hepatosp... OMIM:209950
Lymphoproliferative Syndrome 3
Hepatosplenomegaly, Reduced natural killer cell count, Lymphadenopathy OMIM:618261
Generalized Eruptive Histiocytosis
Maculopapular exanthema, Hypereosinophilia, Lymphadenopathy, Leukemia, Histiocytosis ORPHA:157991
Burkitt Lymphoma
Abnormality of the pancreas, Abnormality of the spleen, Abnormal lymph node morphology, Abnormali... ORPHA:543
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Hepatomegaly, Autoimmune hemolytic anemia, Failure to thrive, Lymphocytic interstitial pneumonia,... OMIM:618495
Meige Disease
Recurrent bacterial skin infections, Predominantly lower limb lymphedema, Recurrent skin infectio... ORPHA:90186
Nocardiosis
Brain abscess, Pericarditis, Liver abscess, Osteomyelitis, Pneumonia, Keratitis, Lymphadenitis, P... ORPHA:31204
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion OMIM:183350
Autoinflammation With Episodic Fever And Lymphadenopathy
Hepatomegaly, Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy OMIM:618852
Deafness, Autosomal Dominant 34, With Or Without Inflammation
Arthritis, Conjunctivitis, Lymphadenopathy OMIM:617772
Pfapa Syndrome
Hepatomegaly, Splenomegaly, Weight loss, Lymphadenopathy, Arthritis, Infectious encephalitis ORPHA:42642
Kimura Disease
Lymphadenopathy, Abnormal salivary gland morphology, Eosinophilia, Follicular hyperplasia ORPHA:482
Activated Pi3K-Delta Syndrome
Hepatomegaly, Pneumonia, Splenomegaly, Recurrent tonsillitis, Bronchiectasis, Lymphadenopathy, Ar... ORPHA:397596
Lethal Congenital Contracture Syndrome 3
Neonatal death OMIM:611369
Proteasome-Associated Autoinflammatory Syndrome 4
Hepatomegaly, Autoimmune hemolytic anemia, Myositis, Edema, Splenomegaly, Flexion contracture, Ly... OMIM:619183
Alpha-Heavy Chain Disease
Hepatomegaly, Splenomegaly, Lymphadenopathy, Ascites, Anemia ORPHA:100025
Familial Cold Autoinflammatory Syndrome 2
Skin rash, Erythema nodosum, Splenomegaly, Leukocytosis, Lymphadenopathy, Arthritis, Recurrent ap... OMIM:611762
Caspase 8 Deficiency
Eczema, Pneumonia, Decreased CD4:CD8 ratio, Splenomegaly, Lymphadenopathy, Failure to thrive OMIM:607271
Classic Mycosis Fungoides
Hepatomegaly, Skin rash, Eczema, Edema, Splenomegaly, Lymphadenopathy, Abnormal lymphocyte morpho... ORPHA:2584
Tularemia
Brain abscess, Skin rash, Pneumonia, Erythema nodosum, Abnormal nasopharyngeal adenoid morphology... ORPHA:3392
Deafness-Lymphedema-Leukemia Syndrome
Hepatomegaly, Abnormal neutrophil count, Lymphedema, Splenomegaly, Leukocytosis, Lymphadenopathy,... ORPHA:3226
Proteasome-Associated Autoinflammatory Syndrome 3
Hepatomegaly, Failure to thrive, Myositis, Lipodystrophy, Sinusitis, Skin rash, Periorbital edema... OMIM:617591
Ras-Associated Autoimmune Leukoproliferative Disorder
Hemolytic anemia, Pancytopenia, Hepatomegaly, Follicular hyperplasia, Autoimmune thrombocytopenia... OMIM:614470
Proteasome-Associated Autoinflammatory Syndrome 2
Increased CD4:CD8 ratio, Lipodystrophy, Skin rash, Neutrophilic infiltration of the skin, Periorb... OMIM:618048
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Brain abscess, Neutrophilia, Liver abscess, Abnormality of the pancreas, Abnormality of the lymph... ORPHA:54251
Cinca Syndrome
Skin rash, Eosinophilia, Lymphedema, Leukocytosis, Uveitis, Lymphadenopathy, Hepatosplenomegaly, ... OMIM:607115
Immunodeficiency 7
Hepatomegaly, Autoimmune hemolytic anemia, Chronic oral candidiasis, Splenomegaly, Hypereosinophi... OMIM:615387
Immunodeficiency, Common Variable, 1
Hepatomegaly, Pneumonia, Splenomegaly, Recurrent pneumonia, Neutropenia in presence of anti-neutr... OMIM:607594
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Neutrophilia, Lipodystrophy, Failure to thrive in infancy, Skin rash, Leukocytosis, Lymphadenopat... OMIM:617099
Igg4-Related Kidney Disease
Lymphadenitis, Pedal edema, Tubulointerstitial nephritis, Cholecystitis, Sialadenitis, Abnormal m... ORPHA:449395
Laryngeal Neuroendocrine Tumor
Adrenocorticotropic hormone excess, Chronic noninfectious lymphadenopathy, Weight loss ORPHA:100083
Immunodeficiency With Hyper-Igm, Type 4
Autoimmune hemolytic anemia, Osteomyelitis, Absence of lymph node germinal center, Autoimmune thr... OMIM:608184
Lymphoproliferative Syndrome 1
Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Stomatitis, Autoimmune thrombocytopenia,... OMIM:613011
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Hepatomegaly, Autoimmune hemoly... OMIM:615559
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Splenomegaly, Lymphadenopathy, Hepatosplenomegaly, Anemia, Colitis, Hemophagocytosis, Recurrent s... OMIM:613101
Pleural Mesothelioma
Hepatomegaly, Pleural effusion, Weight loss, Lymphadenopathy ORPHA:50251
Leukocyte Adhesion Deficiency, Type Iii
Hepatomegaly, Extramedullary hematopoiesis, Recurrent skin infections, Splenomegaly, Leukocytosis... OMIM:612840
Congenital Toxoplasmosis
Hepatomegaly, Failure to thrive in infancy, Jaundice, Lymphadenopathy, Anemia, Ascites, Thrombocy... ORPHA:858
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis
Death in infancy, Villous atrophy, Abnormal intestine morphology OMIM:251850
Systemic-Onset Juvenile Idiopathic Arthritis
Hepatomegaly, Pericarditis, Anterior uveitis, Skin rash, Splenomegaly, Lymphadenopathy, Joint swe... ORPHA:85414
Immunodeficiency 97 With Autoinflammation
Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Colitis, Elevated proportion of C... OMIM:619802
Lymphangiectasia, Intestinal
Edema, Pedal edema, Stillbirth, Intestinal lymphangiectasia, Lymphopenia OMIM:152800
Igg4-Related Pachymeningitis
Sinusitis, Eosinophilia, Lymphadenitis, Nephritis, Pancreatitis, Parotitis ORPHA:449427
Lymphoproliferative Syndrome 2
Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Recurrent pneumonia, EBV encephalitis,... OMIM:615122
Omenn Syndrome
Hepatomegaly, Failure to thrive, Eosinophilia, Edema, Pneumonia, Splenomegaly, Leukocytosis, Thyr... ORPHA:39041
Immunodeficiency 54
Hepatomegaly, Splenomegaly, Lymphadenopathy, Adrenocorticotropic hormone excess, Failure to thriv... OMIM:609981
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Hepatomegaly, Glomerulonephritis, Decreased proportion of marginal zone B cells, Autoimmune throm... OMIM:619375
Schnitzler Syndrome
Hepatomegaly, Skin rash, Splenomegaly, Leukocytosis, Lymphadenopathy, Arthritis, Anemia ORPHA:37748
Immunodeficiency 109 With Lymphoproliferation
Pancytopenia, Generalized lymphadenopathy, Splenomegaly, Bronchiectasis, Absent circulating B cel... OMIM:620282
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia
Goiter, Nodular goiter, Chronic noninfectious lymphadenopathy, Abnormal lymph node morphology ORPHA:97290
Cyclic Neutropenia
Sinusitis, Recurrent skin infections, Cyclic neutropenia, Perianal abscess, Cervical lymphadenopa... ORPHA:2686
Familial Papillary Or Follicular Thyroid Carcinoma
Goiter, Nodular goiter, Chronic noninfectious lymphadenopathy, Abnormal lymph node morphology ORPHA:319487
Desmoplastic Small Round Cell Tumor
Abnormal peritoneum morphology, Hepatomegaly, Neoplasm of the pancreas, Cachexia, Testicular neop... ORPHA:83469
Leishmaniasis
Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Lymphadenopathy, Anemia... ORPHA:507
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Failure to thrive, Eosinophilia, Autoimmune thrombocytopenia, Decreased proportion of CD8-positiv... ORPHA:169154
Immunodeficiency, Common Variable, 2
Hepatomegaly, Follicular hyperplasia, Splenomegaly, Recurrent pneumonia, Bronchiectasis, Lymphade... OMIM:240500
Felty Syndrome
Episcleritis, Hepatomegaly, Pericarditis, Sinusitis, Thrombocytopenia, Splenomegaly, Cellulitis, ... ORPHA:47612
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Hepatomegaly, Failure to thrive, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia... OMIM:602450
Indolent Systemic Mastocytosis
Hepatomegaly, Maculopapular exanthema, Skin rash, Splenomegaly, Lymphadenopathy, Increased propor... ORPHA:98848
Immunodeficiency 91 And Hyperinflammation
Hepatomegaly, Neutrophilia, Membranoproliferative glomerulonephritis, Maculopapular exanthema, Ed... OMIM:619644
Immunodeficiency With Hyper-Igm, Type 3
Neutropenia, Absence of lymph node germinal center OMIM:606843
Plague
Hepatomegaly, Chapped lip, Skin rash, Edema, Erythema nodosum, Splenomegaly, Lymphadenitis, Enter... ORPHA:707
Rosaï-Dorfman Disease
Anemia, Lymphadenopathy ORPHA:158014
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Genital edema, Eczema, Absent peripheral lymph nodes in presence of infection, Increased T cell c... ORPHA:98813
Omenn Syndrome
Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Pneumonia, Splenomegaly, Thrombocytopenia, ... OMIM:603554
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Gastrointestinal hemorrhage, Abnormal large intestine morphology, Esophageal neoplasm, Gastroesop... ORPHA:2198
Aggressive Systemic Mastocytosis
Pancytopenia, Maculopapular exanthema, Portal hypertension, Hypersplenism, Thrombocytopenia, Leuk... ORPHA:98850
Immunodeficiency With Hyper-Igm, Type 5
Epididymitis, Lymphadenopathy OMIM:608106
Immunodeficiency 19
T lymphocytopenia, Abnormal B cell morphology, Recurrent otitis media, Failure to thrive, Abnorma... OMIM:615617
Immunodeficiency 98 With Autoinflammation, X-Linked
Hepatomegaly, Autoimmune hemolytic anemia, Chronic oral candidiasis, Splenomegaly, Lymphadenopath... OMIM:301078
Severe Combined Immunodeficiency, X-Linked
Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Skin rash, Pneumonia, R... OMIM:300400
Sea-Blue Histiocytosis
Hepatomegaly, Edema, Splenomegaly, Mediastinal lymphadenopathy, Sea-blue histiocytosis, Blepharit... ORPHA:158029
Classic Hodgkin Lymphoma
Hepatomegaly, Skin rash, Splenomegaly, Weight loss, Lymphadenopathy, Bone marrow hypocellularity ORPHA:391
Autoimmune Lymphoproliferative Syndrome, Type Iia
Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, A... OMIM:603909
Autoimmune Lymphoproliferative Syndrome
Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, A... OMIM:601859
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Hemolytic anemia, Autoimmune hemolytic anemia, Psoriasiform dermatitis, Decreased proportion of C... OMIM:606367
Acute Monoblastic/Monocytic Leukemia
Acute monocytic leukemia, Periorbital edema, Leukocytosis, Cervical lymphadenopathy, Weight loss,... ORPHA:514
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Hepatomegaly, Autoimmune hemolytic anemia, Atrophic gastritis, Psoriasiform dermatitis, Eczema, A... OMIM:616100
T-Cell Immunodeficiency With Thymic Aplasia
Failure to thrive, Aplasia of the thymus, Recurrent pneumonia, Bronchiectasis, Hepatosplenomegaly... OMIM:242700
Griscelli Syndrome
Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Jaundice, Hepatitis, Pedal edema, Lymphad... ORPHA:381
Kaposi Sarcoma
Generalized lymphadenopathy, Skin rash, Lymphedema, Abnormality of the spleen, Weight loss, Abnor... ORPHA:33276
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia
Neonatal death, Congenital pyloric atresia OMIM:612138
Granulomatous Slack Skin
Abnormal lymph node morphology ORPHA:33111
Primary Erythromelalgia
Hypothermia ORPHA:90026
Sézary Syndrome
Hepatomegaly, Edema, Splenomegaly, Lymphadenopathy, Erythroderma, Abnormal lymphocyte morphology ORPHA:3162
Primary Myelofibrosis
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Portal hypertension, Cachexia, Thromboc... ORPHA:824
Immunodeficiency 27B
Generalized lymphadenopathy, Salmonella osteomyelitis, Osteomyelitis OMIM:615978
Drug Reaction With Eosinophilia And Systemic Symptoms
Skin rash, Eosinophilia, Pustule, Myocarditis, Angioedema, Hepatitis, Thyroiditis, Lymphadenopath... ORPHA:139402
Lymphoproliferative Syndrome, X-Linked, 1
Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Fulminant hepatitis, Lymphadenopathy, ... OMIM:308240
Thymic Carcinoma
Palpebral edema, Edema, Neoplasm of the thymus, Mediastinal lymphadenopathy, Weight loss ORPHA:99868
Pulmonary Non-Tuberculous Mycobacterial Infection
Pericardial effusion, Bronchiectasis, Weight loss, Lymphadenopathy, Pleural effusion ORPHA:411703
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Failure ... OMIM:600802
Lethal Congenital Contracture Syndrome 8
Neonatal death, Death in infancy, Oral-pharyngeal dysphagia OMIM:616287
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Pneumonia, Purulent rhinitis, T lymphocytopenia, Arthritis, B lymphocytopenia, Conjunctivitis, Fa... OMIM:601457
Immunodeficiency, Common Variable, 8, With Autoimmunity
Atrophic gastritis, Generalized lymphadenopathy, Uveitis, Inflammation of the large intestine, Co... OMIM:614700
Immunodeficiency With Hyper-Igm, Type 2
Lymphadenopathy OMIM:605258
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Eosinophilia, Eczema, Autoimmune thrombocytopenia, Glomerulonephritis, Thrombocytopenia, Hepatiti... OMIM:304790
Niemann-Pick Disease, Type A
Hepatomegaly, Failure to thrive, Bone-marrow foam cells, Microcytic anemia, Splenomegaly, Lymphad... OMIM:257200
Rhabdoid Tumor
Weight loss, Anemia, Neoplasm of the liver, Lymphadenopathy, Thrombocytopenia ORPHA:69077
Mycosis Fungoides
Psoriasiform dermatitis, Eczema, Lymphadenopathy OMIM:254400
Adult-Onset Still Disease
Hepatomegaly, Pericarditis, Neutrophilia, Generalized lymphadenopathy, Skin rash, Splenomegaly, L... ORPHA:829
Griscelli Syndrome Type 2
Hepatomegaly, Pancytopenia, Splenomegaly, Jaundice, Lymphadenopathy, Hemophagocytosis, Neutropenia ORPHA:79477
Cinca Syndrome
Hepatomegaly, Abnormality of neutrophils, Edema, Splenomegaly, Leukocytosis, Retrobulbar optic ne... ORPHA:1451
Melkersson-Rosenthal Syndrome
Inflammatory abnormality of the skin, Edema, Periorbital edema, Cheilitis, Lymphadenopathy ORPHA:2483
Papa Syndrome
Increased inflammatory response, Myositis, Acne, Pustule, Lymphadenopathy, Arthritis, Crohn's dis... ORPHA:69126
Gamma-Heavy Chain Disease
Hepatomegaly, Autoimmune hemolytic anemia, Skin rash, Autoimmune thrombocytopenia, Splenomegaly, ... ORPHA:100026
Diffuse Cutaneous Mastocytosis
Hepatomegaly, Abnormality of the spleen, Lymphadenopathy, Abnormality of the liver, Lymphocytosis... ORPHA:79456
Majeed Syndrome
Hepatomegaly, Inflammatory abnormality of the skin, Osteomyelitis, Acne, Edema, Congenital hypopl... ORPHA:77297
American Trypanosomiasis
Hepatomegaly, Skin rash, Edema, Periorbital edema, Splenomegaly, Myocarditis, Lymphadenopathy, In... ORPHA:3386
Glycogen Storage Disease Iv
Failure to thrive, Edema, Portal hypertension, Polyhydramnios, Hydrops fetalis, Hepatosplenomegal... OMIM:232500
Amyloidosis, Familial Visceral
Hepatomegaly, Skin rash, Edema, Splenomegaly, Cholestasis OMIM:105200
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Hepatomegaly, Autoimmune hemolytic anemia, Atrophic gastritis, Psoriasiform dermatitis, Eczema, P... ORPHA:436159
Eosinophilic Fasciitis
Fasciitis, Abnormal eosinophil morphology, Myositis, Eosinophilia, Edema, Weight loss, Arthritis,... ORPHA:3165
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Hepatomegaly, Pancytopenia, Failure to thrive in infancy, Abnormal lymphocyte count, Portal hyper... ORPHA:79124
Immunoneurologic Disorder, X-Linked
Neonatal death, Decreased circulating IgG2 level OMIM:300076
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hepatomegaly, Pancytopenia, Skin rash, Edema, Thrombocytopenia, Splenomegaly, Jaundice, Hepatospl... OMIM:603553
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Fish-Eye Disease
Splenomegaly, Hepatomegaly, Lymphadenopathy ORPHA:79292
Immunodeficiency 10
Amelogenesis imperfecta, Autoimmune hemolytic anemia, Thrombocytopenia, Lymphadenopathy OMIM:612783
Visceral Myopathy 2
Intestinal obstruction, Necrotizing enterocolitis, Intestinal pseudo-obstruction, Intestinal malr... OMIM:619350
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Impaired lymphocyte transformation with phytohemagglutinin, Nonimmune hydrops fetalis, Pericardia... OMIM:619313
Inflammatory Bowel Disease (Crohn Disease) 30
Gastritis, Duodenitis, Pancolitis, Protein-losing enteropathy, Abnormal intestine morphology, Ile... OMIM:619079
Klatskin Tumor
Hepatomegaly, Cholangiocarcinoma, Jaundice, Extrahepatic cholestasis, Lymphadenopathy, Weight loss ORPHA:99978
Acute Generalized Exanthematous Pustulosis
Predominantly dermal neutrophilic infiltrate, Neutrophilia, Eosinophilia, Facial edema, Pustule, ... ORPHA:293173
Heme Oxygenase 1 Deficiency
Hemolytic anemia, Hepatomegaly, Asplenia, Cervical lymphadenopathy, Lymphadenopathy, Coombs-posit... OMIM:614034
Medullary Thyroid Carcinoma
Primary hyperparathyroidism, Weight loss, Abnormal liver parenchyma morphology, Lymphadenopathy, ... ORPHA:1332
Graft Versus Host Disease
Fasciitis, Dupuytren contracture, Lipodystrophy, Myositis, Maculopapular exanthema, Pneumonia, In... ORPHA:39812
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Hepatomegaly, Failure to thrive, Decreased proportion of naive T cells, Chronic oral candidiasis,... ORPHA:276
Nephroblastoma
Neoplasm of the liver, Weight loss, Lymphadenopathy ORPHA:654
Epidermolysis Bullosa With Diaphragmatic Hernia
Neonatal death OMIM:226735
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Skin rash, Cervical lymphadenopathy, Recurrent pneumonia, Decreased mean platelet volume, Lymphad... OMIM:617718
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia
Neonatal death, Esophageal stenosis, Congenital pyloric atresia OMIM:619817
Cold Agglutinin Disease
Splenomegaly, Hemolytic anemia, Lymphadenopathy, Hepatomegaly ORPHA:56425
Boutonneuse Fever
Maculopapular exanthema, Skin rash, Cervical lymphadenopathy, Lymphadenopathy, Leukopenia, Thromb... ORPHA:83313
Pediatric Systemic Lupus Erythematosus
Myositis, Skin rash, Edema, Pericardial effusion, Discoid lupus rash, Malar rash, Lymphadenopathy... ORPHA:93552
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive
Death in childhood, Death in infancy, Neonatal death, Dysphagia OMIM:620265
Aregenerative Anemia
Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Lymphadenopathy, Bone marrow hypocellulari... ORPHA:101096
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... ORPHA:231154
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hepatomegaly, Splenomegaly, Jaundice, Lymphadenopathy, Anemia, Leukopenia, Hemophagocytosis, Fail... OMIM:267700
Roifman Syndrome
Hepatomegaly, Hip contracture, Eosinophilia, Eczema, Splenomegaly, Recurrent pneumonia, Lymphaden... OMIM:616651
Nodular Non-Suppurative Panniculitis
Hepatomegaly, Edema, Splenomegaly, Weight loss, Panniculitis, Inflammatory abnormality of the eye ORPHA:33577
Riboflavin Deficiency
Hypothermia OMIM:615026
Macrophage Activation Syndrome
Hepatomegaly, Increased inflammatory response, Thrombocytopenia, Splenomegaly, Hepatitis, Lymphad... ORPHA:158061
Immunodeficiency 13
Lymphopenia, Recurrent pneumonia, Bronchiectasis, T lymphocytopenia, B lymphocytopenia, Recurrent... OMIM:615518
Acquired Hypertrichosis Lanuginosa
Ovarian neoplasm, Weight loss, Lymphadenopathy ORPHA:2221
Microphthalmia, Syndromic 12
Neonatal death, Intestinal malrotation, Cleft palate OMIM:615524
Mevalonic Aciduria
Normocytic hypoplastic anemia, Failure to thrive in infancy, Skin rash, Edema, Fluctuating hepato... OMIM:610377
Stuve-Wiedemann Syndrome 2
Neonatal death, Stillbirth, Death in adolescence, Dysphagia OMIM:619751
Castleman Disease
Generalized lymphadenopathy, Follicular hyperplasia, Mediastinal lymphadenopathy, Thrombocytopeni... ORPHA:160
Hypocomplementemic Urticarial Vasculitis
Episcleritis, Hepatomegaly, Skin rash, Pericardial effusion, Splenomegaly, Angioedema, Uveitis, L... ORPHA:36412
Mixed Connective Tissue Disease
Hemolytic anemia, Hepatomegaly, Myositis, Pericarditis, Skin rash, Gastritis, Mediastinal lymphad... ORPHA:809
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Patent ductus arteriosus, Hypothermia OMIM:616501
Cutaneous Mastocytoma
Peau d'orange, Angioedema, Maculopapular exanthema, Lymphadenopathy ORPHA:79455
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Iridocyclitis, Flexion contracture, Knee osteoarthritis, Oligoarthritis, Uveitis, Enthesitis, Lym... ORPHA:85408
T-Cell Immunodeficiency With Thymic Aplasia
Decreased proportion of naive T cells, Aplasia of the thymus, Sinusitis, Pneumonia, Atypical or p... ORPHA:83471
Roifman Syndrome
Hip contracture, Eosinophilia, Eczema, Recurrent pneumonia, Lymphadenopathy, Hepatosplenomegaly, ... ORPHA:353298
Hernia, Anterior Diaphragmatic
Neonatal death OMIM:306950
Immunodeficiency With Hyper-Igm, Type 1
Hepatomegaly, Hemolytic anemia, Chronic oral candidiasis, Absence of lymph node germinal center, ... OMIM:308230
Mednik Syndrome
Death in infancy, Jejunal atresia, Death in childhood, Neonatal death, Volvulus, Microcolon OMIM:609313
Immunodeficiency 57 With Autoinflammation
Skin rash, Gastritis, Perianal abscess, Bronchiectasis, T lymphocytopenia, Inflammation of the la... OMIM:618108
Common Variable Immunodeficiency
Hemolytic anemia, Failure to thrive in infancy, Pneumonia, Autoimmune thrombocytopenia, Splenomeg... ORPHA:1572
Legionnaires Disease
Pericarditis, Splenomegaly, Jaundice, Myocarditis, Hepatitis, Endocarditis, Lymphadenopathy, Bone... ORPHA:549
2-Methylbutyryl-Coa Dehydrogenase Deficiency
Hypothermia OMIM:610006
Kikuchi-Fujimoto Disease
Hepatomegaly, Generalized lymphadenopathy, Palpebral edema, Skin rash, Pustule, Thrombocytopenia,... ORPHA:50918
Fanconi Anemia, Complementation Group O
Death in infancy, Miscarriage, Rectal atresia, Neonatal death, Anal atresia OMIM:613390
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly... ORPHA:98849
Periodic Fever, Familial, Autosomal Dominant
Hepatomegaly, Myositis, Maculopapular exanthema, Skin rash, Periorbital edema, Cervical lymphaden... OMIM:142680
Anaplastic Thyroid Carcinoma
Goiter, Nodular goiter, Weight loss, Lymphadenopathy ORPHA:142
Fetal Akinesia Deformation Sequence 4
Neonatal death, High palate, Prenatal death OMIM:618393
Combined Immunodeficiency Due To Crac Channel Dysfunction
Hemolytic anemia, Hepatomegaly, Pneumonia, Splenomegaly, Lymphadenopathy, Amelogenesis imperfecta... ORPHA:169090
Acute Promyelocytic Leukemia
Pancytopenia, Thrombocytopenia, Leukocytosis, Lymphadenopathy, Weight loss, Leukopenia, Neutropen... ORPHA:520
Sting-Associated Vasculopathy, Infantile-Onset
Failure to thrive, Myositis, Skin rash, Follicular hyperplasia, Pustule, Malar rash, Paratracheal... OMIM:615934
Thymic Neuroendocrine Tumor
Pancreatic islet cell adenoma, Chronic noninfectious lymphadenopathy, Pituitary null cell adenoma... ORPHA:97289
Brucellosis
Liver abscess, Knee osteoarthritis, Leukopenia, Abnormality of the liver, Infectious encephalitis... ORPHA:1304
Autoimmune Lymphoproliferative Syndrome
Hydrops fetalis, Uveitis, Colitis, Lymphocytosis, Increased B cell count, Elevated proportion of ... ORPHA:3261
Q Fever
Hepatomegaly, Pericarditis, Osteomyelitis, Maculopapular exanthema, Pneumonia, Pericardial effusi... ORPHA:781
Immunodeficiency 55
Absent natural killer cells, Recurrent skin infections, Eczema, Lymphadenopathy, Neutropenia, Lym... OMIM:617827
Developmental And Epileptic Encephalopathy 78
Hypothermia OMIM:618557
Poems Syndrome
Lipodystrophy, Edema, Pericardial effusion, Lymphadenopathy, Weight loss, Thrombocytosis, Pleural... ORPHA:2905
Primary Intestinal Lymphangiectasia
Peritoneal effusion, Edema, Pericardial effusion, Abnormal lymphatic vessel morphology, Weight lo... ORPHA:90362
Thyroid Lymphoma
Goiter, Hashimoto thyroiditis, Lymphadenopathy ORPHA:97285
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Neonatal death, Patent ductus arteriosus OMIM:601612
Scrub Typhus
Anterior uveitis, Skin rash, Splenomegaly, Myocarditis, Lymphadenopathy, Infectious encephalitis ORPHA:83317
Familial Hemophagocytic Lymphohistiocytosis
Hepatomegaly, Maculopapular exanthema, Skin rash, Splenomegaly, Jaundice, Erythroderma, Lymphaden... ORPHA:540
Mitochondrial Complex I Deficiency, Nuclear Type 30
Neonatal death OMIM:301021
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Fasciitis, Myositis, Pericarditis, Skin rash, Periorbital edema, Splenomegaly, Leukocytosis, Peri... ORPHA:32960
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Myositis, Iron deficiency anemia, Tubulointerstitial nephritis, Colitis, Neutropenia, Psoriasifor... ORPHA:37042
Lymphatic Malformation 6
Genital edema, Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Splenomegaly, Polyhydr... OMIM:616843
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies
Hepatosplenomegaly, Recurrent pneumonia, Lymphadenopathy, Microcytic anemia OMIM:619750
Abcd Syndrome
Neonatal death, Aganglionic megacolon, Total intestinal aganglionosis OMIM:600501
Pancreatoblastoma
Jaundice, Weight loss, Pancreatic calcification, Abnormal lymph node morphology ORPHA:677
Middle Ear Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy ORPHA:100084
Immunodeficiency 31C
Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Autoimmune hemolytic an... OMIM:614162
Chediak-Higashi Syndrome
Impaired neutrophil bactericidal activity, Hepatomegaly, Recurrent bacterial skin infections, Abn... OMIM:214500
Spontaneous Periodic Hypothermia
Hypothermia ORPHA:29822
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Hepatomegaly, Pancytopenia, Skin rash, Eczema, Portal hypertension, Erythema nodosum, Splenomegal... OMIM:615688
Neutropenia, Lethal Congenital, With Eosinophilia
Neonatal death OMIM:257100
Acute Interstitial Pneumonia
Pericardial effusion, Bronchiectasis, Lymphadenopathy, Peripheral edema, Reduced hematocrit, Pleu... ORPHA:79126
Lig4 Syndrome
Hepatomegaly, Pancytopenia, Cryptorchidism, Leukocytosis, Lymphadenopathy, Acute leukemia ORPHA:99812
Mitochondrial Dna Depletion Syndrome 12A (Cardiomyopathic Type), Autosomal Dominant
Neonatal death, Death in infancy OMIM:617184
Malt Lymphoma
Mediastinal lymphadenopathy, Weight loss, Lymphadenopathy, Posterior uveitis, Anemia ORPHA:52417
Squamous Cell Carcinoma Of The Anal Canal
Neoplasm of the liver, Lymphadenopathy ORPHA:424019
Pgm3-Cdg
Abnormal CD4:CD8 ratio, Leukopenia, T lymphocytopenia, Neutropenia, Chronic otitis media, Decreas... ORPHA:443811
Familial Pancreatic Carcinoma
Pancreatic adenocarcinoma, Jaundice, Extrahepatic cholestasis, Lymphadenopathy, Hepatosplenomegal... ORPHA:1333
Immunodeficiency 82 With Systemic Inflammation
Decreased proportion of naive T cells, T lymphocytopenia, Colitis, Pustular rash, Hepatitis, Bron... OMIM:619381
Coenzyme Q10 Deficiency, Primary, 5
Hypothermia OMIM:614654
Dehydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Cholelithiasis, Anemia of inadequate produc... ORPHA:3202
Pulmonary Capillary Hemangiomatosis
Pericardial effusion, Mediastinal lymphadenopathy, Pedal edema, Lymphadenopathy, Pleural effusion... ORPHA:199241
Gallbladder Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy, Biliary tract neoplasm, Extrahepatic cholestasis, Intermit... ORPHA:100086
Farber Disease
Failure to thrive, Intrahepatic cholestasis with episodic jaundice, Thrombocytopenia, Flexion con... ORPHA:333
Hereditary Amyloidosis With Primary Renal Involvement
Hepatomegaly, Primary testicular failure, Abnormal lymph node morphology, Lymphadenopathy, Hepato... ORPHA:85450
Combined Oxidative Phosphorylation Deficiency 8
Neonatal death, Death in infancy, Death in childhood OMIM:614096
Thanatophoric Dysplasia, Glasgow Variant
Neonatal death OMIM:273680
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Hepatomegaly, Mediastinal lymphadenopathy, Leukocytosis, Bronchiectasis, Cholestasis, Pleural eff... OMIM:620233
Joint Contractures, Osteochondromas, And B-Cell Lymphoma
Hip contracture, Generalized lymphadenopathy, Ankle flexion contracture, Knee flexion contracture OMIM:620232
Waldenström Macroglobulinemia
Normocytic anemia, Hepatomegaly, Abnormality of neutrophils, Periorbital edema, Splenomegaly, Ped... ORPHA:33226
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3
Neonatal death, Microcolon OMIM:619362
Lymphatic Malformation 7
Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Pericardial effusion, Increased nucha... OMIM:617300
Idiopathic Congenital Hypothyroidism
Hypothermia ORPHA:95717
Chédiak-Higashi Syndrome
Abnormal leukocyte morphology, Recurrent bacterial skin infections, Pancytopenia, Skin rash, Edem... ORPHA:167
H Syndrome
Psoriasiform dermatitis, Lipodystrophy, Microcytic anemia, Bronchiectasis, Hepatosplenomegaly, Ly... ORPHA:168569
Spondyloenchondrodysplasia With Immune Dysregulation
Pneumonia, Autoimmune thrombocytopenia, Lymphadenopathy, T lymphocytopenia, Joint swelling, Recur... OMIM:607944
Cutaneous Neuroendocrine Carcinoma
Lymphoid leukemia, Chronic noninfectious lymphadenopathy ORPHA:79140
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Abnormality of the gastrointestinal tract, Death in infancy, Intestinal malrotation, Hypoperistal... ORPHA:2241
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Failure ... ORPHA:35078
Hyperimmunoglobulinemia D With Periodic Fever
Hepatomegaly, Peritonitis, Lymphadenopathy, Arthritis, Recurrent aphthous stomatitis ORPHA:343
Congenital Disorder Of Glycosylation, Type Ih
Death in infancy, Patent ductus arteriosus, Protein-losing enteropathy, Neonatal death, Decreased... OMIM:608104
Nk-Cell Enteropathy
Colonic diverticula, Duodenal ulcer, Abnormal gastric mucosa morphology, Hematochezia, Gastric ul... ORPHA:263665
Igg4-Related Submandibular Gland Disease
Eosinophilia, Cholangitis, Retroperitoneal fibrosis, Facial edema, Periorbital edema, Abnormal pa... ORPHA:449432
Sudden Infant Death-Dysgenesis Of The Testes Syndrome
Hypothermia ORPHA:168593
Lymphangiectasia, Pulmonary, Congenital
Palpebral edema, Nonimmune hydrops fetalis, Polyhydramnios, Edema, Facial edema, Chylous ascites,... OMIM:265300
Meconium Ileus
Microcolon, Meconium ileus OMIM:614665
Coccidioidomycosis
Abnormality of the spleen, Abnormality of the liver, Morbilliform rash, Abscess, Mediastinal lymp... ORPHA:228123
Hennekam Syndrome
Camptodactyly of finger, Lymphedema, Pericardial effusion, Splenomegaly, Pulmonary lymphangiectas... ORPHA:2136
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Accessory spleen, Hepatomegaly, Failure to thrive in infancy, Microvesicular hepatic steatosis, S... OMIM:619418
Histiocytosis-Lymphadenopathy Plus Syndrome
Episcleritis, Hepatomegaly, Flexion contracture of finger, Camptodactyly of finger, Decreased res... OMIM:602782
Carney Triad
Mediastinal lymphadenopathy, Lymphadenopathy, Pheochromocytoma, Ascites, Anemia ORPHA:139411
Igg4-Related Dacryoadenitis And Sialadenitis
Myositis, Palpebral edema, Retroperitoneal fibrosis, Facial edema, Xerostomia, Thyroiditis, Enlar... ORPHA:79078
Idiopathic Hypereosinophilic Syndrome
Generalized lymphadenopathy, Cholangitis, Colitis, Neutrophilia, Leukocytosis, Angioedema, Hepato... ORPHA:3260
Familial Mediterranean Fever
Pericarditis, Skin rash, Orchitis, Splenomegaly, Peritonitis, Osteoarthritis, Pedal edema, Lympha... ORPHA:342
Timothy Syndrome
Patent ductus arteriosus, Hypothermia OMIM:601005
Fetal Akinesia, Respiratory Insufficiency, Microcephaly, Polymicrogyria, And Dysmorphic Facies
Neonatal death OMIM:619602
Multiple Myeloma
Splenomegaly, Weight loss, Lymphadenopathy, Pleural effusion, Anemia ORPHA:29073
Visceral Myopathy 1
Intestinal pseudo-obstruction, Aganglionic megacolon, Pancreatitis, Dysphagia, Megaduodenum, Micr... OMIM:155310
Aicardi-Goutieres Syndrome 7
Hemolytic anemia, Hepatomegaly, Generalized lymphadenopathy, Pancytopenia, Atrophic gastritis, Ed... OMIM:615846
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Hypothermia OMIM:245400
Immunodeficiency 87 And Autoimmunity
Decreased proportion of CD4-positive T cells, Hemolytic anemia, Hepatomegaly, Lymphopenia, Autoim... OMIM:619573
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Hypothermia OMIM:614498
Agammaglobulinemia, X-Linked
Hepatocellular carcinoma, Enteroviral hepatitis, Prostatitis, Epididymitis, Recurrent pneumonia, ... OMIM:300755
Ichthyosis, Congenital, Autosomal Recessive 4B
Neonatal death, Death in infancy OMIM:242500
Sarcoidosis
Increased T cell count, Uveitis, Leukopenia, Tubulointerstitial nephritis, Hemolytic anemia, Hepa... ORPHA:797
Chikungunya
Maculopapular exanthema, Skin rash, Facial edema, Erythema nodosum, Cervical lymphadenopathy, Cru... ORPHA:324625
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5
Microcolon, Intestinal malrotation OMIM:619431
Primary Hepatic Neuroendocrine Carcinoma
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Chronic noninfectious lymphadenopa... ORPHA:100085
Behçet Disease
Increased inflammatory response, Myositis, Pericarditis, Acne, Orchitis, Splenomegaly, Retrobulba... ORPHA:117
Neuroendocrine Tumor Of The Colon
Hepatomegaly, Chronic noninfectious lymphadenopathy, Weight loss ORPHA:100080
Ileal Neuroendocrine Tumor
Edema, Extrahepatic cholestasis, Weight loss, Lymphadenopathy, Iron deficiency anemia ORPHA:100078
Systemic Lupus Erythematosus
Hemolytic anemia, Lupus nephritis, Discoid lupus rash, Cheilitis, Lymphadenopathy, Leukopenia, Ar... ORPHA:536
Fetal Gaucher Disease
Neonatal death, Death in infancy, Stillbirth, High palate ORPHA:85212
Primary Sjögren Syndrome
Normocytic anemia, Myositis, Chronic active hepatitis, Xerostomia, Leukopenia, Tubulointerstitial... ORPHA:289390
Afibrinogenemia, Congenital
Death in infancy, Hematemesis, Death in adolescence, Death in childhood, Neonatal death OMIM:202400
Carcinoid Syndrome
Chronic noninfectious lymphadenopathy, Hepatic necrosis ORPHA:100093
Lymphangioleiomyomatosis
Lymphedema, Abnormality of the lymphatic system, Chylopericardium, Lymphadenopathy, Shagreen patc... ORPHA:538
Kawasaki Disease
Pericarditis, Skin rash, Edema, Myocarditis, Cervical lymphadenopathy, Leukocytosis, Jaundice, He... ORPHA:2331
Sarcoidosis, Susceptibility To, 1
Hepatomegaly, Pancytopenia, Generalized lymphadenopathy, Pericardial effusion, Splenomegaly, Medi... OMIM:181000
Bresek Syndrome
Neonatal death, Aganglionic megacolon, Cleft palate ORPHA:85284
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Hypothermia ORPHA:226313
Menkes Disease
Hypothermia OMIM:309400
Blau Syndrome
Pericarditis, Skin rash, Camptodactyly of finger, Keratitis, Splenomegaly, Retrobulbar optic neur... ORPHA:90340
Bronchial Neuroendocrine Tumor
Hepatomegaly, Pneumonia, Chronic noninfectious lymphadenopathy, Elevated circulating growth hormo... ORPHA:97287
Familial Thyroid Dyshormonogenesis
Hypothermia ORPHA:95716
Arthrogryposis Multiplex Congenita 6
Neonatal death, Death in infancy, Death in childhood OMIM:619334
Proteasome-Associated Autoinflammatory Syndrome 1
Microcytic anemia, Adipose tissue loss, Flexion contracture, Conjunctivitis, Loss of facial adipo... OMIM:256040
Cushing Syndrome Due To Ectopic Acth Secretion
Pancreatic adenocarcinoma, Adrenal hyperplasia, Dorsocervical fat pad, Acne, Pancreatoblastoma, P... ORPHA:99889
Faciocardiomelic Dysplasia, Lethal
Neonatal death, Microglossia OMIM:227270
Sacral Agenesis With Vertebral Anomalies
Neonatal death, Anal atresia, Persistent cloaca OMIM:615709
Neuroendocrine Tumor Of The Rectum
Hepatomegaly, Chronic noninfectious lymphadenopathy, Weight loss ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Hepatomegaly, Chronic noninfectious lymphadenopathy, Weight loss ORPHA:100082
Igg4-Related Ophthalmic Disease
Sinusitis, Palpebral edema, Eosinophilia, Cholangitis, Retroperitoneal fibrosis, Periorbital edem... ORPHA:449563
Cardiomyopathy, Dilated, 2H
Neonatal death OMIM:620203
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Hypothermia OMIM:608800
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Neonatal death, Esophageal atresia, Tracheoesophageal fistula, Anal atresia OMIM:314390
Meningococcal Meningitis
Hypothermia ORPHA:33475
Phosphoribosylaminoimidazole Carboxylase Deficiency
Neonatal death, Esophageal atresia, Tracheoesophageal fistula OMIM:619859
Tangier Disease
Orange discolored tonsils, Chronic noninfectious lymphadenopathy, Hepatosplenomegaly, Anemia, Thr... ORPHA:31150
Crimean-Congo Hemorrhagic Fever
Leukopenia, Conjunctivitis, Cholecystitis, Morbilliform rash, Hepatomegaly, Neutrophilia, Pericar... ORPHA:99827
Cherubism
Macular scar, Submandibular lymph node enlargement OMIM:118400
Marburg Hemorrhagic Fever
Reticulocytosis, Pericarditis, Maculopapular exanthema, Skin rash, Orchitis, Jaundice, Neutrophil... ORPHA:99826
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hypothermia, Hepatocellular necrosis OMIM:251880
Neuroendocrine Tumor Of Stomach
Iron deficiency anemia, Weight loss, Chronic noninfectious lymphadenopathy, Hepatomegaly ORPHA:100075
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Patent ductus arteriosus, Microcolon, Ileal atresia OMIM:619351
Riddle Syndrome
Generalized lymphadenopathy, Pneumonia, Recurrent pneumonia, Weight loss, Arthritis, Otitis media... ORPHA:420741
Combined Oxidative Phosphorylation Deficiency 40
Neonatal death, Death in infancy, Decreased circulating cortisol level OMIM:618835
Combined Oxidative Phosphorylation Deficiency 42
Neonatal death, Death in infancy, Decreased circulating cortisol level OMIM:618839
Congenital Enterovirus Infection
Hypothermia ORPHA:292
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Hypothermia OMIM:618775
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
Leptospirosis
Hepatomegaly, Pericarditis, Skin rash, Jaundice, Hepatitis, Uveitis, Lymphadenopathy, Optic neuri... ORPHA:509
Genetic Transient Congenital Hypothyroidism
Hypothermia ORPHA:226316
Systemic Sclerosis
Abnormality of the gastrointestinal tract, Abnormal small intestine morphology, Barrett esophagus... ORPHA:90291
Adenocarcinoma Of The Anal Canal
Neoplasm of the liver, Lymphadenopathy ORPHA:424016
Fg Syndrome Type 1
Abnormal large intestine morphology, Malrotation of colon, Pyloric stenosis, Gastroesophageal ref... ORPHA:93932
Malakoplakia
Inflammatory abnormality of the skin, Skin rash, Follicular hyperplasia, Orchitis, Urinary bladde... ORPHA:556
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease
Ileus, Aganglionic megacolon, Microcolon, Hypohidrosis ORPHA:163746
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hypothermia ORPHA:26793
Combined Oxidative Phosphorylation Deficiency 37
Hypothermia OMIM:618329
Autosomal Recessive Malignant Osteopetrosis
Hepatomegaly, Splenomegaly, Lymphadenopathy, Otitis media, Chronic rhinitis, Anemia ORPHA:667
Bannayan-Riley-Ruvalcaba Syndrome
Intestinal polyposis, Abnormal large intestine morphology, Narrow palate, Hamartomatous polyposis... ORPHA:109
Ethylene Glycol Poisoning
Renal tubular epithelial necrosis, Hypothermia ORPHA:31826
Boomerang Dysplasia
Neonatal death OMIM:112310
Ulnar Agenesis And Endocardial Fibroelastosis
Neonatal death OMIM:276822
Hypothyroidism Due To Tsh Receptor Mutations
Hypothermia ORPHA:90673
Dopamine Beta-Hydroxylase Deficiency
Hypothermia ORPHA:230
Orthostatic Hypotension 1
Intermittent hypothermia OMIM:223360
3-Hydroxy-3-Methylglutaric Aciduria
Hypothermia ORPHA:20
Tbck-Related Intellectual Disability Syndrome
Hypothermia ORPHA:488632
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Patent ductus arteriosus, Hypothermia ORPHA:17
Multiple Endocrine Neoplasia Type 2
Reduced subcutaneous adipose tissue, Thyroid C cell hyperplasia, Cervical lymphadenopathy, Primar... ORPHA:653
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hematemesis, Esophageal varix, Neonatal death OMIM:263200
Renal-Hepatic-Pancreatic Dysplasia 1
Neonatal death, Patent ductus arteriosus, Intestinal malrotation OMIM:208540
African Trypanosomiasis
Hepatomegaly, Pericarditis, Keratitis, Splenomegaly, Jaundice, Myocarditis, Hepatosplenomegaly, L... ORPHA:3385
Alexander Disease
Hypothermia ORPHA:58
Heart Defects, Congenital, And Other Congenital Anomalies
Colon perforation, Intestinal malrotation, Patent ductus arteriosus, Microcolon OMIM:600001
Isolated Thyroid-Stimulating Hormone Deficiency
Hypothermia ORPHA:90674
Aromatic L-Amino Acid Decarboxylase Deficiency
Intermittent hypothermia OMIM:608643
Adult-Onset Autosomal Dominant Leukodystrophy
Hypothermia ORPHA:99027
Neuroendocrine Neoplasm Of Appendix
Hepatomegaly, Ovarian neoplasm, Chronic noninfectious lymphadenopathy, Adrenocorticotropic hormon... ORPHA:100079
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Intestinal malrotation, Esophageal atresia, Patent ductus arteriosus, Tracheoesophageal fistula, ... OMIM:265380
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Hypothermia ORPHA:79282
Neuroleptic Malignant Syndrome
Hypothermia ORPHA:94093
Meacham Syndrome
Death in infancy, Patent ductus arteriosus, Stillbirth, Death in childhood, Neonatal death OMIM:608978
Mitochondrial Dna-Associated Leigh Syndrome
Hypothermia ORPHA:255210
Menkes Disease
Hypothermia ORPHA:565
3-Methylglutaconic Aciduria, Type Viii
Neonatal death, Death in infancy, Patent ductus arteriosus, Dysphagia OMIM:617248
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
Restrictive Dermopathy
Patent ductus arteriosus, Submucous cleft hard palate, Microcolon ORPHA:1662
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Hypothermia ORPHA:293987
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Patent ductus arteriosus, Hypothermia 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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