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Gene: Ap5m1 MGI:1921635

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Gene Summary

Name:
adaptor-related protein complex 5, mu 1 subunit
Synonyms:
4932432K03Rik,  Mudeng

Order Alleles

IMPC Data Collections

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.

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal lymph node morphology Ap5m1em1(IMPC)Mbp HOM Early adult 0.00
abnormal skin morphology Ap5m1em1(IMPC)Mbp HOM Early adult 0.00
enlarged lymph nodes Ap5m1em1(IMPC)Mbp HOM Early adult 0.00
decreased locomotor activity Ap5m1em1(IMPC)Mbp HOM Early adult 5.94×10-11
increased circulating total protein level Ap5m1em1(IMPC)Mbp HOM Early adult 3.87×10-06
increased freezing behavior Ap5m1em1(IMPC)Mbp HOM Early adult 1.80×10-17
increased circulating serum albumin level Ap5m1em1(IMPC)Mbp HOM Early adult 5.14×10-06

Download data as:  TSV  XLS

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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

X-ray

XRay Images Whole Body Dorso Ventral

30 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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Human diseases caused by Ap5m1 mutations

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

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

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

The table below shows human diseases predicted to be associated to Ap5m1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)
Abnormal lymph node morphology OMIM:136580
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency
Lymphadenopathy ORPHA:319600
Immunodeficiency 38 With Basal Ganglia Calcification
Axillary lymphadenopathy, Inguinal lymphadenopathy, Lymphadenopathy OMIM:616126
Squamous Cell Carcinoma Of The Esophagus
Lymphadenopathy ORPHA:99977
Mantle Cell Lymphoma
Lymphadenopathy, Splenomegaly, Anorexia ORPHA:52416
Hepatic Venoocclusive Disease With Immunodeficiency
Absence of lymph node germinal center OMIM:235550
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hypoalbuminemia, Ataxia, Increased circulating ferritin concentration, Increased total bilirubin,... OMIM:267700
Multiple Myeloma
Elevated circulating creatinine concentration, Splenomegaly, Lymphadenopathy, Hyperproteinemia, H... ORPHA:29073
Pulmonary Nodular Lymphoid Hyperplasia
Mediastinal lymphadenopathy, Follicular hyperplasia ORPHA:60026
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Hypoproteinemia, Intestinal lymphangiectasia OMIM:207731
Hemophagocytic Syndrome Associated With An Infection
Increased circulating ferritin concentration, Splenomegaly, Hypertriglyceridemia, Ataxia, Hyperpr... ORPHA:158048
Laryngeal Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy, Elevated circulating carcinoembryonic antigen concentratio... ORPHA:100083
Cholestasis, Progressive Familial Intrahepatic, 10
Hypoalbuminemia, Increased total bilirubin, Splenomegaly, Increased serum bile acid concentration... OMIM:619868
Lymphangiectasia, Intestinal
Neonatal hypoproteinemia, Intestinal lymphangiectasia OMIM:152800
Reticuloendotheliosis, X-Linked
Hepatosplenomegaly, Lymphadenopathy OMIM:312500
Citrullinemia Type Ii
Hypoalbuminemia, Mania, Decreased HDL cholesterol concentration, Abnormal eating behavior, Hyperl... ORPHA:247585
Immunodeficiency 27A
Hypoalbuminemia, Hepatosplenomegaly, Splenomegaly, Lymphadenopathy, Anorexia, Enlarged mesenteric... OMIM:209950
Enterokinase Deficiency
Hypoproteinemia OMIM:226200
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hypoalbuminemia, Ataxia, Increased total bilirubin, Increased circulating ferritin concentration,... OMIM:603553
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypoalbuminemia, Steppage gait, Hypercholesterolemia, Ataxia ORPHA:94124
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypoalbuminemia, Steppage gait, Hypercholesterolemia, Ataxia OMIM:607250
Kerion Celsi
Lymphadenopathy ORPHA:499
Immunodeficiency 75 With Lymphoproliferation
Hepatosplenomegaly, Follicular hyperplasia, Lymphadenopathy OMIM:619126
Gastritis, Familial Giant Hypertrophic
Hypoproteinemia OMIM:137280
Pandas
Depression, Abnormal fear-induced behavior, Oppositional defiant disorder, Obsessive-compulsive t... ORPHA:66624
Immunodeficiency 115 With Autoinflammation
Hypoalbuminemia, Intestinal lymphangiectasia, Elevated haptoglobin level, Abnormal circulating cr... OMIM:620632
Nephrotic Syndrome, Type 2
Hypoalbuminemia, Hyperlipidemia OMIM:600995
Nephrotic Syndrome, Type 15
Hypoalbuminemia OMIM:617609
Adenocarcinoma Of The Esophagus
Lymphadenopathy ORPHA:99976
Erythroderma, Lethal Congenital
Hypoalbuminemia OMIM:227090
Gaisböck Syndrome
Hyperuricemia, Hypercholesterolemia, Hypertriglyceridemia, Hyperproteinemia, Increased circulatin... ORPHA:90041
Diarrhea 7, Protein-Losing Enteropathy Type
Hypoalbuminemia, Hyperlipidemia, Hypercholesterolemia OMIM:615863
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency
Hypoalbuminemia, Increased circulating creatine kinase MM isoform, Hypermethioninemia OMIM:613752
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Hypoproteinemia OMIM:221400
Refractory Celiac Disease
Hypoalbuminemia, Hypomagnesemia, Abnormal spleen physiology, Hypocalcemia, Hypophosphatemia, Hypo... ORPHA:398063
Immunodeficiency 43
Hypoalbuminemia, Decreased circulating beta-2-microglobulin level, Hypoproteinemia OMIM:241600
Diarrhea 13
Hypoalbuminemia OMIM:620357
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Hypoalbuminemia ORPHA:88643
Leishmaniasis
Hypoalbuminemia, Splenomegaly, Lymphadenopathy, Anorexia ORPHA:507
Omenn Syndrome
Hypoplasia of the thymus, Hypoproteinemia, Splenomegaly, Lymphadenopathy OMIM:603554
Analbuminemia
Hypoalbuminemia, Increased LDL cholesterol concentration, Hypercholesterolemia, Elevated circulat... OMIM:616000
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Hypoalbuminemia, Limb ataxia, Gait ataxia, Elevated circulating creatine kinase concentration, Lo... OMIM:208920
Ménétrier Disease
Hypoalbuminemia, Hypoproteinemia, Anorexia ORPHA:2494
Nephrotic Syndrome, Type 9
Hypoalbuminemia OMIM:615573
Leptospirosis
Hyperproteinemia, Lymphadenopathy, Anorexia ORPHA:509
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Hypoalbuminemia, Gait imbalance, Elevated circulating creatine kinase concentration, Hypercholest... ORPHA:64753
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Lymphadenopathy, Splenomegaly, Anorexia ORPHA:86893
Nephrotic Syndrome, Type 1
Hypoalbuminemia, Hyperlipidemia, Hypoproteinemia OMIM:256300
Focal Segmental Glomerulosclerosis 6
Hypoalbuminemia OMIM:614131
Primary Intestinal Lymphangiectasia
Hypoalbuminemia, Hypomagnesemia, Intestinal lymphangiectasia, Hypocalcemia, Abnormal lymphatic ve... ORPHA:90362
Granulomatous Slack Skin
Hypercalcemia, Abnormal lymph node morphology ORPHA:33111
Coenzyme Q10 Deficiency, Primary, 3
Hypoalbuminemia OMIM:614652
Hemophagocytic Lymphohistiocytosis, Familial, 4
Splenomegaly, Lymphadenopathy, Increased circulating ferritin concentration, Hypertriglyceridemia OMIM:603552
Immunodeficiency 104
Splenomegaly, Lymphadenopathy OMIM:608971
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Increased circulating ferritin concentration, Hepatosplenomegaly, Splenomegaly, Lymphadenopathy, ... OMIM:613101
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hypoalbuminemia, Hypoproteinemia, Intestinal lymphangiectasia OMIM:226300
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Hypoproteinemia ORPHA:1116
Autoinflammation With Infantile Enterocolitis
Elevated circulating C-reactive protein concentration, Splenomegaly, Increased circulating ferrit... OMIM:616050
Nephrotic Syndrome, Type 22
Hypoproteinemia OMIM:619155
Congenital Analbuminemia
Hypoalbuminemia, Hyperlipidemia, Hypercholesterolemia, Hypoproteinemia, Increased alpha-globulin ORPHA:86816
Kimura Disease
Follicular hyperplasia, Lymphadenopathy ORPHA:482
Alpha-Heavy Chain Disease
Splenomegaly, Hypocalcemia, Lymphadenopathy ORPHA:100025
Nephrotic Syndrome, Type 7
Hypoalbuminemia OMIM:615008
Dengue Fever
Lethargy, Hypoproteinemia ORPHA:99828
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Aggressive behavior, Abnormal fear-induced behavior, Pseudobulbar paralysis ORPHA:208441
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Broad-based gait, Shuffling gait, Abnormal fear-induced behavior, Irritability, Aggressive behavi... ORPHA:3077
Immune Dysregulation, Autoimmunity, And Autoinflammation
Abnormal circulating C-reactive protein concentration, Inguinal lymphadenopathy, Cervical lymphad... OMIM:620514
Chylomicron Retention Disease
Hypoalbuminemia, Hypocholesterolemia, Decreased LDL cholesterol concentration, Hypotriglyceridemia OMIM:246700
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Lymphadenitis, Splenomegaly, Elevated circulating creatine kinase concentration, Lymphadenopathy,... OMIM:615895
Burkitt Lymphoma
Abnormality of the spleen, Hyperuricemia, Abnormal lymph node morphology ORPHA:543
Galloway-Mowat Syndrome 6
Hypoalbuminemia, Paroxysmal bursts of laughter, Motor stereotypy OMIM:618347
Congenital Enterocyte Heparan Sulfate Deficiency
Hypoalbuminemia, Abnormal circulating protein concentration, Abnormal circulating polysaccharide ... ORPHA:103910
Lymphoproliferative Syndrome, X-Linked, 1
Elevated circulating C-reactive protein concentration, Splenomegaly, Lymphadenopathy, Hypoalbumin... OMIM:308240
Familial Cold Autoinflammatory Syndrome 2
Elevated circulating C-reactive protein concentration, Splenomegaly, Lymphadenopathy OMIM:611762
Autoinflammation With Episodic Fever And Lymphadenopathy
Recurrent tonsillitis, Splenomegaly, Lymphadenopathy OMIM:618852
Ataxia-Oculomotor Apraxia 4
Hypoalbuminemia, Hypercholesterolemia, Ataxia, Elevated circulating alpha-fetoprotein concentration OMIM:616267
Congenital Disorder Of Glycosylation, Type Ij
Aggressive behavior, Hypoproteinemia OMIM:608093
Deafness, Autosomal Dominant 34, With Or Without Inflammation
Lymphadenopathy OMIM:617772
Focal Segmental Glomerulosclerosis 1
Hypoalbuminemia, Hyperlipidemia OMIM:603278
Congenital Lethal Erythroderma
Hypoalbuminemia ORPHA:1954
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Pancreatic lymphangiectasis, Hypocalcemia, Splenomegaly, Thyroid lymphangiectasia, Pulmonary lymp... OMIM:235255
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hypoalbuminemia, Hepatosplenomegaly, Hypertriglyceridemia OMIM:619013
Alg6-Cdg
Hypoalbuminemia, Decreased LDL cholesterol concentration, Ataxia ORPHA:79320
Triokinase And Fmn Cyclase Deficiency Syndrome
Hypoalbuminemia, Broad-based gait OMIM:618805
Mast Cell Sarcoma
Mediastinal lymphadenopathy, Splenomegaly, Lymphadenopathy ORPHA:66661
Primary Membranoproliferative Glomerulonephritis
Hypoalbuminemia ORPHA:54370
Macrophage Activation Syndrome
Hypoalbuminemia, Increased circulating ferritin concentration, Splenomegaly, Lymphadenopathy, Hyp... ORPHA:158061
Fibronectin Glomerulopathy
Hypoalbuminemia ORPHA:84090
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Splenomegaly, Lymphadenopathy ORPHA:444463
Classic Hodgkin Lymphoma
Bone marrow hypocellularity, Anorexia, Splenomegaly, Lymphadenopathy, Ataxia ORPHA:391
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Increased circulating free fatty acid level, Hyperammonemia, Hypocalcemia, Elevated circulating c... ORPHA:26793
Fish-Eye Disease
Lymphadenopathy, Splenomegaly, Decreased HDL cholesterol concentration ORPHA:79292
Pancreatic insufficiency, combined exocrine
Hypoproteinemia OMIM:260450
Follicular Lymphoma
Mediastinal lymphadenopathy, Splenomegaly, Lymphadenopathy ORPHA:545
Autoimmune Lymphoproliferative Syndrome, Type Iii
Hepatosplenomegaly, Follicular hyperplasia, Splenomegaly, Generalized lymphadenopathy, Lymphadeno... OMIM:615559
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Pancreatic lymphangiectasis, Hepatosplenomegaly, Hypocalcemia, Splenomegaly, Pulmonary lymphangie... ORPHA:1655
Immunodeficiency 32A
Lymphadenitis, Lymphadenopathy OMIM:614893
Galloway-Mowat Syndrome 8
Hypoalbuminemia OMIM:618349
Nephrotic Syndrome, Type 3
Hypoalbuminemia OMIM:610725
Lymphoproliferative Syndrome 3
Hepatosplenomegaly, Lymphadenopathy OMIM:618261
Immunodeficiency 103, Susceptibility To Fungal Infections
Decreased circulating iron concentration, Lymphadenopathy OMIM:212050
Nephrotic Syndrome, Type 6
Hypoalbuminemia OMIM:614196
Refractory Anemia With Excess Blasts
Bone marrow hypocellularity, Abnormal circulating protein concentration, Abnormal circulating alb... ORPHA:86839
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia
Chronic noninfectious lymphadenopathy, Abnormal lymph node morphology ORPHA:97290
Familial Papillary Or Follicular Thyroid Carcinoma
Chronic noninfectious lymphadenopathy, Abnormal lymph node morphology ORPHA:319487
Immunodeficiency 109 With Lymphoproliferation
Generalized lymphadenopathy, Splenomegaly, Hypertriglyceridemia OMIM:620282
Chédiak-Higashi Syndrome
Increased circulating ferritin concentration, Inability to walk, Hepatosplenomegaly, Hypertriglyc... ORPHA:167
Immunodeficiency With Hyper-Igm, Type 5
Lymphadenopathy OMIM:608106
Immunodeficiency 32B
Hypoalbuminemia, Splenomegaly OMIM:226990
Heme Oxygenase 1 Deficiency
Increased circulating ferritin concentration, Cervical lymphadenopathy, Lymphadenopathy, Elevated... OMIM:614034
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Elevated circulating C-reactive protein concentration, Abnormality of the lymphatic system, Abnor... ORPHA:54251
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypoalbuminemia, Elevated circulating alpha-fetoprotein concentration, Hypermethioninemia, Abnorm... ORPHA:247598
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Splenomegaly, Lymphadenopathy OMIM:615513
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Fluctuating splenomegaly, Lymphadenopathy OMIM:619220
Rhabdoid Tumor
Hypercalcemia, Lymphadenopathy, Irritability ORPHA:69077
Pleural Mesothelioma
Dysphagia, Lymphadenopathy ORPHA:50251
Genetic Steroid-Resistant Nephrotic Syndrome
Hypoalbuminemia, Irritability ORPHA:656
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Hepatosplenomegaly, Lymphadenopathy OMIM:618982
Immunodeficiency With Hyper-Igm, Type 2
Lymphadenopathy OMIM:605258
Immunodeficiency 76
Splenomegaly, Lymphadenopathy OMIM:619164
Congenital Disorder Of Glycosylation, Type Il
Hypoalbuminemia, Hypocholesterolemia, Splenomegaly OMIM:608776
Mu-Heavy Chain Disease
Splenomegaly, Lymphadenopathy ORPHA:100024
Congenital Disorder Of Glycosylation, Type Ib
Hypoalbuminemia, Lymphangiectasis OMIM:602579
Familial Hemophagocytic Lymphohistiocytosis
Hypoalbuminemia, Increased circulating ferritin concentration, Splenomegaly, Lymphadenopathy, Hyp... ORPHA:540
Eosinophilic Gastroenteritis
Elevated circulating C-reactive protein concentration, Dysphagia, Hypoalbuminemia ORPHA:2070
Alg1-Cdg
Hypoalbuminemia ORPHA:79327
Rosaï-Dorfman Disease
Lymphadenopathy ORPHA:158014
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Hypoalbuminemia, Hyperkalemia, Conjugated hyperbilirubinemia, Increased total bilirubin OMIM:618528
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies
Elevated circulating C-reactive protein concentration, Hepatosplenomegaly, Lymphadenopathy, Eleva... OMIM:619750
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy OMIM:300853
Immunodeficiency With Hyper-Igm, Type 3
Absence of lymph node germinal center OMIM:606843
Cinca Syndrome
Elevated circulating C-reactive protein concentration, Hepatosplenomegaly, Lymphadenopathy OMIM:607115
Systemic-Onset Juvenile Idiopathic Arthritis
Elevated circulating C-reactive protein concentration, Splenomegaly, Lymphadenopathy ORPHA:85414
Hepatoportal Sclerosis
Hypoalbuminemia, Hypersplenism, Hyperbilirubinemia, Splenomegaly ORPHA:64743
Liver Failure, Infantile, Transient
Hypoalbuminemia, Hyperbilirubinemia, Irritability OMIM:613070
Immunodeficiency 64 With Lymphoproliferation
Cervical lymphadenopathy, Hepatosplenomegaly, Splenomegaly, Lymphadenopathy, Mediastinal lymphade... OMIM:618534
Porphyria Due To Ala Dehydratase Deficiency
Depression, Abnormal fear-induced behavior, Difficulty walking, Abnormal circulating porphyrin co... ORPHA:100924
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Follicular hyperplasia, Lymphadenopathy OMIM:619846
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Hypoalbuminemia, Decreased circulating ceruloplasmin concentration, Decreased circulating copper ... OMIM:242150
Immunodeficiency, Common Variable, 2
Splenomegaly, Follicular hyperplasia, Lymphadenopathy OMIM:240500
Pfapa Syndrome
Splenomegaly, Lymphadenopathy ORPHA:42642
Johanson-Blizzard Syndrome
Hypoproteinemia ORPHA:2315
Niemann-Pick Disease, Type A
Inability to walk, Splenomegaly, Irritability, Lymphadenopathy, Athetosis OMIM:257200
Immunodeficiency 27B
Generalized lymphadenopathy OMIM:615978
Reni Syndrome
Hypoalbuminemia, Ataxia, Hypertriglyceridemia OMIM:617575
Griscelli Syndrome Type 2
Hyperlipidemia, Splenomegaly, Lymphadenopathy ORPHA:79477
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Cervical lymphadenopathy OMIM:618987
Caspase 8 Deficiency
Splenomegaly, Lymphadenopathy OMIM:607271
Purine Nucleoside Phosphorylase Deficiency
Hypouricemia, Lymph node hypoplasia, Splenomegaly, Ataxia, Increased circulating inosine concentr... OMIM:613179
Nephrotic Syndrome, Type 8
Hypoalbuminemia OMIM:615244
Immunodeficiency With Hyper-Igm, Type 4
Absence of lymph node germinal center OMIM:608184
Congenital Disorder Of Glycosylation, Type Ih
Hypoalbuminemia, Elevated circulating creatinine concentration OMIM:608104
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Lymph node hypoplasia, Splenomegaly, Aplasia of the thymus, Generalized lymphadenopathy, Absent t... OMIM:602450
S-Adenosylhomocysteine Hydrolase Deficiency
Hypoalbuminemia, Hypermethioninemia, Abnormal circulating homocysteine concentration, Elevated ci... ORPHA:88618
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypoalbuminemia, Hypercholesterolemia, Abnormal circulating lipid concentration, Hypertriglycerid... ORPHA:567548
Mpi-Cdg
Hypoalbuminemia ORPHA:79319
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Hypoalbuminemia, Hepatosplenomegaly ORPHA:367
Griscelli Syndrome
Bone marrow hypocellularity, Abnormal circulating lipid concentration, Splenomegaly, Lymphadenopa... ORPHA:381
Leukocyte Adhesion Deficiency, Type Iii
Hepatosplenomegaly, Splenomegaly, Abnormal lymph node morphology OMIM:612840
Nephrotic Syndrome, Type 11
Hypoalbuminemia, Hypercholesterolemia OMIM:616730
Immunodeficiency 52
Splenomegaly, Lymphadenopathy OMIM:617514
Classic Mycosis Fungoides
Splenomegaly, Lymphadenopathy ORPHA:2584
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Hypoalbuminemia, Intestinal lymphangiectasia, Thyroid lymphangiectasia, Hyperactivity, Pulmonary ... OMIM:235510
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Absent tonsils, Absence of lymph node germinal center ORPHA:277
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Hypoalbuminemia, Gait ataxia, Unsteady gait, Dysphagia OMIM:254900
Mucopolysaccharidosis-Plus Syndrome
Hypoalbuminemia, Bone marrow hypocellularity, Splenomegaly, Inability to walk OMIM:617303
Activated Pi3K-Delta Syndrome
Splenomegaly, Recurrent tonsillitis, Lymphadenopathy ORPHA:397596
Lymphoproliferative Syndrome 1
Elevated circulating C-reactive protein concentration, Splenomegaly, Lymphadenopathy, Increased c... OMIM:613011
Tularemia
Cervical lymphadenopathy, Abnormal nasopharyngeal adenoid morphology, Mediastinal lymphadenopathy... ORPHA:3392
Schnitzler Syndrome
Splenomegaly, Lymphadenopathy ORPHA:37748
Wolcott-Rallison Syndrome
Hypoalbuminemia, Difficulty walking, Hyperbilirubinemia, Hyperammonemia, Hyponatremia ORPHA:1667
Mycosis Fungoides
Lymphadenopathy OMIM:254400
Congenital Enterovirus Infection
Hypoalbuminemia, Hyperammonemia, Irritability ORPHA:292
Phoar2-Enteropathy Syndrome
Hypoalbuminemia OMIM:614441
Thyroid Lymphoma
Dysphagia, Lymphadenopathy ORPHA:97285
Proteasome-Associated Autoinflammatory Syndrome 2
Elevated circulating C-reactive protein concentration, Lymphadenopathy OMIM:618048
Congenital Toxoplasmosis
Lymphadenopathy ORPHA:858
Pseudomyxoma Peritonei
Lymphadenopathy ORPHA:26790
Immunodeficiency 105
Hepatosplenomegaly, Absence of lymph node germinal center OMIM:619924
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hypoalbuminemia, Hyperbilirubinemia, Splenomegaly, Elevated circulating alpha-fetoprotein concent... OMIM:251880
Aicardi-Goutieres Syndrome 9
Hypoalbuminemia, Hepatosplenomegaly, Self-mutilation, Irritability OMIM:619487
Neuroblastoma
Increased circulating ferritin concentration, Antalgic gait, Irritability, Lymphadenopathy, Ataxia ORPHA:635
Immunodeficiency 91 And Hyperinflammation
Elevated circulating C-reactive protein concentration, Hepatosplenomegaly, Lymphadenopathy OMIM:619644
Legionnaires Disease
Bone marrow hypocellularity, Anorexia, Splenomegaly, Hyponatremia, Lymphadenopathy, Ataxia ORPHA:549
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hypoalbuminemia, Hypermethioninemia, Hyperbilirubinemia, Lethargy, Hypertyrosinemia, Conjugated h... OMIM:617156
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Hypoalbuminemia OMIM:617021
Scrub Typhus
Splenomegaly, Lethargy, Lymphadenopathy ORPHA:83317
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Splenomegaly, Lymphadenopathy OMIM:618495
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Hypoalbuminemia, Hypomagnesemia, Hypocalcemia, Splenomegaly, Decreased circulating prealbumin con... ORPHA:37042
Immunodeficiency 54
Splenomegaly, Lymphadenopathy OMIM:609981
Avian Influenza
Elevated circulating C-reactive protein concentration, Elevated circulating creatine kinase conce... ORPHA:454836
Chronic Bilirubin Encephalopathy
Hypoalbuminemia, Neonatal hyperbilirubinemia, Hypernatremia ORPHA:529808
Acute Bilirubin Encephalopathy
Hypoalbuminemia, Neonatal hyperbilirubinemia, Hypernatremia ORPHA:529799
Indolent Systemic Mastocytosis
Splenomegaly, Lymphadenopathy ORPHA:98848
Abetalipoproteinemia
Hypoalbuminemia, Ataxia, Broad-based gait, Hypotriglyceridemia, Hypocholesterolemia, Abnormal cir... ORPHA:14
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Hypoalbuminemia, Decreased circulating iron concentration, Decreased circulating carnitine concen... ORPHA:89842
Immunodeficiency 97 With Autoinflammation
Increased circulating ferritin concentration, Hepatosplenomegaly, Splenomegaly, Lymphadenopathy, ... OMIM:619802
Mevalonic Aciduria
Fluctuating splenomegaly, Hepatosplenomegaly, Elevated circulating creatine kinase concentration,... OMIM:610377
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Splenomegaly, Lymphadenopathy OMIM:150550
Adult-Onset Still Disease
Bone marrow hypocellularity, Abnormal circulating lipid concentration, Increased circulating ferr... ORPHA:829
Tafro Syndrome
Elevated circulating C-reactive protein concentration, Hepatosplenomegaly, Splenomegaly, Lymphade... ORPHA:457077
Immunodeficiency, Common Variable, 1
Splenomegaly, Lymphadenopathy OMIM:607594
Castleman Disease
Follicular hyperplasia, Generalized lymphadenopathy, Lymphadenopathy, Elevated circulating C-reac... ORPHA:160
Cold Agglutinin Disease
Splenomegaly, Lymphadenopathy ORPHA:56425
Hereditary Amyloidosis With Primary Renal Involvement
Abnormal lymph node morphology, Elevated circulating creatinine concentration, Hepatosplenomegaly... ORPHA:85450
Generalized Pustular Psoriasis
Elevated circulating C-reactive protein concentration, Hyponatremia, Hypocalcemia, Hypoalbuminemia ORPHA:247353
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Splenomegaly, Lymphadenopathy OMIM:619375
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Hypoalbuminemia, Conjugated hyperbilirubinemia, Hyperammonemia, Decreased serum zinc OMIM:617093
Ras-Associated Autoimmune Leukoproliferative Disorder
Splenomegaly, Follicular hyperplasia OMIM:614470
Lymphoproliferative Syndrome 2
Splenomegaly, Hepatosplenomegaly, Lymphadenopathy OMIM:615122
Meige Disease
Lymph node hypoplasia, Absence of lymph node germinal center ORPHA:90186
Cinca Syndrome
Elevated circulating C-reactive protein concentration, Splenomegaly, Lymphadenopathy ORPHA:1451
Anaplastic Thyroid Carcinoma
Dysphagia, Lymphadenopathy ORPHA:142
Immunodeficiency 7
Splenomegaly, Lymphadenopathy OMIM:615387
Carcinoid Syndrome
Abnormal circulating B-type natriuretic peptide concentration, Chronic noninfectious lymphadenopathy ORPHA:100093
Primary Myelofibrosis
Splenomegaly, Hepatosplenomegaly, Lymphadenopathy, Anorexia ORPHA:824
Middle Ear Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy ORPHA:100084
Roifman Syndrome
Splenomegaly, Lymphadenopathy OMIM:616651
Liver Disease, Severe Congenital
Increased circulating ferritin concentration, Hyperbilirubinemia, Hypocalcemia, Hyperammonemia, I... OMIM:619991
Roifman Syndrome
Hepatosplenomegaly, Lymphadenopathy ORPHA:353298
Medullary Thyroid Carcinoma
Dysphagia, Lymphadenopathy ORPHA:1332
Thymic Neuroendocrine Tumor
Neoplasm of the thymus, Mediastinal lymphadenopathy, Hypercalcemia, Chronic noninfectious lymphad... ORPHA:97289
Combined Immunodeficiency Due To Zap70 Deficiency
Hepatosplenomegaly, Lymphadenitis, Lymphadenopathy, Abnormal lymph node morphology ORPHA:911
Congenital Disorder Of Glycosylation, Type Ia
Hypoalbuminemia, Hypocholesterolemia, Dysmetria, Ataxia OMIM:212065
Marburg Hemorrhagic Fever
Hypoalbuminemia, Elevated circulating creatinine concentration, Hyperamylasemia, Hyperammonemia, ... ORPHA:99826
Acute Interstitial Pneumonia
Elevated circulating C-reactive protein concentration, Elevated circulating creatinine concentrat... ORPHA:79126
Acquired Hypertrichosis Lanuginosa
Lymphadenopathy ORPHA:2221
Deafness-Lymphedema-Leukemia Syndrome
Bone marrow hypocellularity, Lymphadenopathy, Splenomegaly ORPHA:3226
Aregenerative Anemia
Bone marrow hypocellularity, Depression, Emotional lability, Lymphadenopathy ORPHA:101096
Autoimmune Lymphoproliferative Syndrome, Type Iia
Splenomegaly, Chronic noninfectious lymphadenopathy, Follicular hyperplasia, Lymphadenopathy OMIM:603909
Boutonneuse Fever
Cervical lymphadenopathy, Lymphadenopathy ORPHA:83313
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Elevated circulating C-reactive protein concentration, Lymphadenopathy OMIM:617099
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Absent tonsils, Lymph node hypoplasia ORPHA:276
Al Amyloidosis
Hypoalbuminemia, Increased circulating NT-proBNP concentration, Dysphagia ORPHA:85443
Trichohepatoenteric Syndrome 1
Hypoalbuminemia, Hypermethioninemia, Increased circulating iron concentration, Splenomegaly, Abno... OMIM:222470
Autoimmune Lymphoproliferative Syndrome
Splenomegaly, Chronic noninfectious lymphadenopathy, Follicular hyperplasia OMIM:601859
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Recurrent tonsillitis, Lymphadenitis, Hepatosplenomegaly, Splenomegaly, Lymphadenopathy OMIM:618935
Diarrhea 10, Protein-Losing Enteropathy Type
Hypoalbuminemia, Hypomagnesemia, Hypocalcemia, Hyponatremia, Hypertriglyceridemia OMIM:618183
Aggressive Systemic Mastocytosis
Hypersplenism, Hepatosplenomegaly, Lymphadenopathy, Anorexia ORPHA:98850
Desmoplastic Small Round Cell Tumor
Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:83469
Papa Syndrome
Lymphadenopathy ORPHA:69126
Kikuchi-Fujimoto Disease
Abnormal lymph node morphology, Anorexia, Cervical lymphadenopathy, Splenomegaly, Generalized lym... ORPHA:50918
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Hypoalbuminemia, Bone marrow hypocellularity, Hepatosplenomegaly, Inability to walk ORPHA:505248
Nephroblastoma
Lymphadenopathy ORPHA:654
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Hypoalbuminemia, Hypernatremia OMIM:615508
Gamma-Heavy Chain Disease
Dysphagia, Splenomegaly, Lymphadenopathy ORPHA:100026
Combined Oxidative Phosphorylation Deficiency 37
Hypoalbuminemia, Hyperalaninemia OMIM:618329
Bacterial Toxic-Shock Syndrome
Hypoalbuminemia, Elevated circulating creatinine concentration, Hypocalcemia, Elevated circulatin... ORPHA:36234
Pulmonary Non-Tuberculous Mycobacterial Infection
Lymphadenopathy ORPHA:411703
Sézary Syndrome
Splenomegaly, Lymphadenopathy ORPHA:3162
Primary Biliary Cholangitis
Hypoalbuminemia, Abnormal circulating lipid concentration, Splenomegaly, Hypercholesterolemia, Co... ORPHA:186
Immunodeficiency 82 With Systemic Inflammation
Hypoalbuminemia, Follicular hyperplasia, Splenomegaly, Lymphadenopathy, Anorexia, Elevated circul... OMIM:619381
Squamous Cell Carcinoma Of The Anal Canal
Lymphadenopathy ORPHA:424019
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Hypoalbuminemia, Elevated circulating creatine kinase concentration OMIM:619055
Kawasaki Disease
Elevated circulating C-reactive protein concentration, Cervical lymphadenopathy, Irritability, Hy... ORPHA:2331
Hypocomplementemic Urticarial Vasculitis
Splenomegaly, Lymphadenopathy, Ataxia ORPHA:36412
Hyperimmunoglobulinemia D With Periodic Fever
Lymphadenopathy, Ataxia ORPHA:343
Graft Versus Host Disease
Hepatosplenomegaly, Hyperbilirubinemia, Lymphadenopathy, Irritability ORPHA:39812
Wilson Disease
Hypouricemia, Hypoalbuminemia, Hyperbilirubinemia, Splenomegaly, Increased circulating copper con... OMIM:277900
Proteasome-Associated Autoinflammatory Syndrome 4
Splenomegaly, Lymphadenopathy OMIM:619183
Alg12-Cdg
Hyponatremia, Hypocholesterolemia, Hypoalbuminemia ORPHA:79324
Cyclic Neutropenia
Cervical lymphadenopathy, Recurrent tonsillitis, Lymphadenopathy ORPHA:2686
American Trypanosomiasis
Splenomegaly, Lymphadenopathy ORPHA:3386
Galloway-Mowat Syndrome 1
Hypoalbuminemia, Ataxia OMIM:251300
Juvenile Polyposis Syndrome
Hypoalbuminemia, Hypokalemia OMIM:174900
Sting-Associated Vasculopathy, Infantile-Onset
Elevated circulating C-reactive protein concentration, Follicular hyperplasia, Paratracheal lymph... OMIM:615934
Amoebiasis Due To Entamoeba Histolytica
Hypoalbuminemia ORPHA:67
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Absent peripheral lymph nodes in presence of infection ORPHA:98813
Xfe Progeroid Syndrome
Hypoalbuminemia OMIM:610965
Primary Sclerosing Cholangitis
Hypoalbuminemia, Hepatosplenomegaly, Depression, Splenomegaly ORPHA:171
Galloway-Mowat Syndrome 3
Hypoalbuminemia OMIM:617729
Pierson Syndrome
Hypoproteinemia OMIM:609049
Diffuse Cutaneous Mastocytosis
Abnormality of the spleen, Lymphadenopathy ORPHA:79456
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Splenomegaly, Lymphadenopathy OMIM:616100
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Elevated circulating C-reactive protein concentration, Cervical lymphadenopathy, Lymphadenopathy OMIM:617718
Acute Promyelocytic Leukemia
Addictive alcohol use, Lymphadenopathy, Anorexia ORPHA:520
Omenn Syndrome
Splenomegaly, Lymphadenopathy ORPHA:39041
Acute Monoblastic/Monocytic Leukemia
Cervical lymphadenopathy, Anorexia ORPHA:514
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Hypoalbuminemia, Hyperlipidemia ORPHA:567546
Proteasome-Associated Autoinflammatory Syndrome 3
Splenomegaly, Lymphadenopathy, Hypertriglyceridemia OMIM:617591
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Bone marrow hypocellularity, Hepatosplenomegaly, Splenomegaly, Lymphadenopathy, Ataxia, Elevated ... OMIM:615688
Riddle Syndrome
Emotional lability, Generalized lymphadenopathy, Gait disturbance, Ataxia, Elevated circulating a... ORPHA:420741
Immunodeficiency 10
Splenomegaly, Lymphadenopathy OMIM:612783
Secondary Intestinal Lymphangiectasia
Hypoalbuminemia, Hypocholesterolemia, Reduced circulating transferrin concentration, Decreased ci... ORPHA:90363
Melkersson-Rosenthal Syndrome
Lymphadenopathy ORPHA:2483
Felty Syndrome
Bone marrow hypocellularity, Lymphadenopathy, Splenomegaly ORPHA:47612
Waldenström Macroglobulinemia
Ataxia, Splenomegaly, Lymphadenopathy, Anorexia ORPHA:33226
Immunodeficiency 98 With Autoinflammation, X-Linked
Bone marrow hypocellularity, Lymphadenopathy, Splenomegaly OMIM:301078
Klatskin Tumor
Lymphadenopathy ORPHA:99978
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Hepatosplenomegaly, Lymphadenopathy ORPHA:169154
Insulin-Resistance Syndrome Type B
Hypoalbuminemia, Abnormal circulating fatty-acid concentration, Hypotriglyceridemia, Abnormal cir... ORPHA:2298
Combined Immunodeficiency Due To Crac Channel Dysfunction
Splenomegaly, Lymphadenopathy ORPHA:169090
Pancreatoblastoma
Abnormal lymph node morphology ORPHA:677
Gm2 Gangliosidosis, Ab Variant
Abnormal fear-induced behavior, Inappropriate behavior ORPHA:309246
Carney Triad
Mediastinal lymphadenopathy, Lymphadenopathy, Anorexia ORPHA:139411
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Enlarged tonsils, Hepatosplenomegaly, Lymphadenopathy OMIM:606367
Smith-Lemli-Opitz Syndrome
Hypoalbuminemia, Hypocholesterolemia, Elevated circulating 7-dehydrocholesterol concentration, Se... OMIM:270400
Neuroendocrine Tumor Of The Colon
Chronic noninfectious lymphadenopathy, Anorexia ORPHA:100080
Immunodeficiency, Common Variable, 8, With Autoimmunity
Splenomegaly, Generalized lymphadenopathy, Lymphadenopathy OMIM:614700
Chediak-Higashi Syndrome
Splenomegaly, Gait disturbance, Lymphadenopathy, Ataxia OMIM:214500
Mixed Connective Tissue Disease
Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:809
Immunodeficiency With Hyper-Igm, Type 1
Enlarged tonsils, Splenomegaly, Absence of lymph node germinal center OMIM:308230
Pituitary Adenoma 4, Acth-Secreting
Hypokalemia, Abnormal fear-induced behavior, Emotional lability OMIM:219090
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Splenomegaly, Lymphadenopathy ORPHA:436159
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Lethargy, Mediastinal lymphadenopathy, Hilar lymph node enlargement OMIM:620233
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Hypoalbuminemia ORPHA:79396
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Lymphadenopathy OMIM:304790
Lig4 Syndrome
Lymphadenopathy ORPHA:99812
Tangier Disease
Hypocholesterolemia, Hepatosplenomegaly, Chronic noninfectious lymphadenopathy, Orange discolored... ORPHA:31150
Cutaneous Neuroendocrine Carcinoma
Chronic noninfectious lymphadenopathy ORPHA:79140
Familial Pancreatic Carcinoma
Hepatosplenomegaly, Lymphadenopathy, Anorexia ORPHA:1333
T-Cell Immunodeficiency With Thymic Aplasia
Hypocalcemic tetany, Aplasia of the thymus, Lymphadenopathy ORPHA:83471
Pulmonary Capillary Hemangiomatosis
Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:199241
Hyper-Igd Syndrome
Splenomegaly, Hepatosplenomegaly, Lymphadenitis, Lymphadenopathy OMIM:260920
H Syndrome
Hepatosplenomegaly, Lymphadenopathy, Hypertriglyceridemia ORPHA:168569
Juvenile Polyposis Syndrome
Hypoproteinemia ORPHA:2929
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Accessory spleen, Polysplenia, Splenomegaly, Lymphadenopathy, Hypertriglyceridemia OMIM:619418
Juvenile Polyposis Of Infancy
Hypoalbuminemia ORPHA:79076
Rajab Interstitial Lung Disease With Brain Calcifications 1
Hypoalbuminemia, Unconjugated hyperbilirubinemia, Hypocalcemia OMIM:613658
Pediatric Systemic Lupus Erythematosus
Lymphadenopathy ORPHA:93552
Joint Contractures, Osteochondromas, And B-Cell Lymphoma
Generalized lymphadenopathy OMIM:620232
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Splenomegaly, Lymphadenitis, Lymphadenopathy OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Splenomegaly, Lymphadenitis, Lymphadenopathy OMIM:233710
Drug Reaction With Eosinophilia And Systemic Symptoms
Lymphadenopathy ORPHA:139402
Lymphatic Filariasis
Lymphadenitis, Lymphadenopathy, Lymphangiectasis, Abnormality of the lymphatic system ORPHA:2035
Q Fever
Splenomegaly, Hepatosplenomegaly, Lymphadenopathy, Anorexia ORPHA:781
Agammaglobulinemia, X-Linked
Lymph node hypoplasia OMIM:300755
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Splenomegaly, Lymphadenitis, Lymphadenopathy OMIM:233690
Malt Lymphoma
Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:52417
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Elevated circulating C-reactive protein concentration, Splenomegaly, Lymphadenopathy ORPHA:32960
Farber Disease
Hepatosplenomegaly, Lymphadenopathy ORPHA:333
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Hepatosplenomegaly, Absence of lymph node germinal center ORPHA:79124
Hennekam Syndrome
Splenomegaly, Hypocalcemia, Lymphadenopathy, Pulmonary lymphangiectasia, Lymphangioma ORPHA:2136
Gallbladder Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy, Anorexia ORPHA:100086
Poems Syndrome
Splenomegaly, Lymphadenopathy ORPHA:2905
Behçet Disease
Anorexia, Splenomegaly, Irritability, Gait disturbance, Lymphadenopathy, Ataxia ORPHA:117
Acute Generalized Exanthematous Pustulosis
Lymphadenopathy ORPHA:293173
Histiocytosis-Lymphadenopathy Plus Syndrome
Cervical lymphadenopathy, Splenomegaly, Hepatosplenomegaly, Lymphadenopathy OMIM:602782
Brucellosis
Depression, Hypersplenism, Splenomegaly, Lymphadenopathy, Anorexia, Elevated circulating C-reacti... ORPHA:1304
Systemic Mastocytosis With Associated Hematologic Neoplasm
Splenomegaly, Lymphadenopathy ORPHA:98849
Congenital Syphilis
Hepatosplenomegaly, Lymphadenopathy ORPHA:499009
Common Variable Immunodeficiency
Splenomegaly, Lymphadenopathy ORPHA:1572
Granulomatous Disease, Chronic, X-Linked
Splenomegaly, Lymphadenitis, Lymphadenopathy OMIM:306400
Immunodeficiency 55
Lymphadenopathy OMIM:617827
Igg4-Related Kidney Disease
Lymphadenitis, Decreased retinol-binding protein level, Elevated circulating creatinine concentra... ORPHA:449395
Selective Igm Deficiency
Lymphadenitis, Lymphadenopathy ORPHA:331235
Spondyloenchondrodysplasia With Immune Dysregulation
Lymphadenopathy OMIM:607944
Familial Mediterranean Fever
Splenomegaly, Depression, Lymphadenopathy ORPHA:342
Biliary, Renal, Neurologic, And Skeletal Syndrome
Hypoalbuminemia, Increased circulating ferritin concentration, Elevated circulating creatinine co... OMIM:619534
Autosomal Recessive Malignant Osteopetrosis
Splenomegaly, Hypophosphatemia, Hypocalcemia, Lymphadenopathy ORPHA:667
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Absent peripheral lymph nodes in presence of infection OMIM:600802
Crimean-Congo Hemorrhagic Fever
Emotional lability, Splenomegaly, Elevated circulating creatine kinase concentration, Lymphadenop... ORPHA:99827
Autoimmune Lymphoproliferative Syndrome
Bone marrow hypocellularity, Hypersplenism, Chronic noninfectious lymphadenopathy, Splenomegaly, ... ORPHA:3261
Chikungunya
Cervical lymphadenopathy, Depression, Lymphadenopathy ORPHA:324625
Immunodeficiency 31C
Splenomegaly, Lymphadenopathy OMIM:614162
Lymphangioleiomyomatosis
Pulmonary lymphangiomyomatosis, Lymphadenopathy, Abnormality of the lymphatic system ORPHA:538
Tropical Endomyocardial Fibrosis
Hypoalbuminemia, Splenomegaly ORPHA:75565
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Hepatosplenomegaly, Lymphadenopathy ORPHA:85408
African Trypanosomiasis
Difficulty walking, Akinesia, Hepatosplenomegaly, Splenomegaly, Irritability, Aggressive behavior... ORPHA:3385
Proteasome-Associated Autoinflammatory Syndrome 1
Splenomegaly, Hypertriglyceridemia, Lymphadenopathy, Decreased HDL cholesterol concentration, Ele... OMIM:256040
Coccidioidomycosis
Abnormality of the spleen, Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:228123
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Hypoalbuminemia OMIM:614748
Systemic Lupus Erythematosus
Depression, Lymphadenopathy, Anorexia ORPHA:536
Igg4-Related Ophthalmic Disease
Elevated circulating C-reactive protein concentration, Lymphadenopathy ORPHA:449563
Ileal Neuroendocrine Tumor
Lymphadenopathy ORPHA:100078
Plague
Depression, Lymphadenitis, Splenomegaly, Anorexia, Enlarged mesenteric lymph node, Unsteady gait ORPHA:707
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Self-injurious behavior, Abnormal fear-induced behavior, Emotional lability, Aggressive behavior,... ORPHA:353281
Sarcoidosis
Hypercalcemia, Lymphadenopathy, Abnormal lymph node morphology ORPHA:797
Adenocarcinoma Of The Anal Canal
Lymphadenopathy ORPHA:424016
Cushing Syndrome Due To Ectopic Acth Secretion
Depression, Abnormal lymph node morphology, Neoplasm of the thymus, Emotional lability, Anorexia ORPHA:99889
Primary Sjögren Syndrome
Depression, Lymphadenopathy ORPHA:289390
Igg4-Related Submandibular Gland Disease
Lymphadenopathy ORPHA:449432
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Self-injurious behavior, Abnormal fear-induced behavior, Emotional lability, Aggressive behavior,... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Self-injurious behavior, Abnormal fear-induced behavior, Emotional lability, Aggressive behavior,... ORPHA:353277
Igg4-Related Dacryoadenitis And Sialadenitis
Lymphadenopathy ORPHA:79078
Blau Syndrome
Splenomegaly, Lymphadenopathy ORPHA:90340
Pmm2-Cdg
Hypoalbuminemia, Ataxia, Reduced thyroxin-binding globulin ORPHA:79318

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 Ap5m1

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 Ap5m1.

No publications found that use IMPC mice or data for Ap5m1.

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MGI Allele Allele Type Produced
Ap5m1em1(IMPC)Mbp Exon Deletion Mice, Tissue
Ap5m1tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Ap5m1tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells

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