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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
increased circulating total protein level Ap5m1em1(IMPC)Mbp HOM Early adult 1.67×10-06
decreased locomotor activity Ap5m1em1(IMPC)Mbp HOM Early adult 7.09×10-11
enlarged lymph nodes Ap5m1em1(IMPC)Mbp HOM Early adult 0.00
abnormal skin morphology Ap5m1em1(IMPC)Mbp HOM Early adult 0.00
abnormal lymph node morphology Ap5m1em1(IMPC)Mbp HOM Early adult 0.00
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
Mantle Cell Lymphoma
Splenomegaly, Anorexia, Lymphadenopathy ORPHA:52416
Immunodeficiency 38 With Basal Ganglia Calcification
Lymphadenopathy OMIM:616126
Hepatic Venoocclusive Disease With Immunodeficiency
Absence of lymph node germinal center OMIM:235550
Squamous Cell Carcinoma Of The Esophagus
Lymphadenopathy ORPHA:99977
Hereditary Progressive Mucinous Histiocytosis
Lymphadenopathy ORPHA:158025
Pulmonary Nodular Lymphoid Hyperplasia
Mediastinal lymphadenopathy, Follicular hyperplasia ORPHA:60026
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hyponatremia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Ataxia, Increased VL... OMIM:267700
Multiple Myeloma
Hypercalcemia, Splenomegaly, Elevated circulating creatinine concentration, Lymphadenopathy, Hype... ORPHA:29073
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Intestinal lymphangiectasia, Hypoproteinemia OMIM:207731
Hemophagocytic Syndrome Associated With An Infection
Hypertriglyceridemia, Ataxia, Splenomegaly, Increased circulating ferritin concentration, Hyperpr... ORPHA:158048
Cholestasis, Progressive Familial Intrahepatic, 10
Conjugated hyperbilirubinemia, Splenomegaly, Hypoalbuminemia, Increased serum bile acid concentra... OMIM:619868
Laryngeal Neuroendocrine Tumor
Elevated carcinoembryonic antigen level, Chronic noninfectious lymphadenopathy, Anorexia, Oral-ph... ORPHA:100083
Citrullinemia Type Ii
Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia, Hyperactivit... ORPHA:247585
Reticuloendotheliosis, X-Linked
Hepatosplenomegaly, Lymphadenopathy OMIM:312500
Lymphangiectasia, Intestinal
Intestinal lymphangiectasia, Neonatal hypoproteinemia OMIM:152800
Enterokinase Deficiency
Hypoproteinemia OMIM:226200
Immunodeficiency 27A
Anorexia, Splenomegaly, Enlarged mesenteric lymph node, Lymphadenopathy, Hepatosplenomegaly, Hypo... OMIM:209950
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hyponatremia, Hypertriglyceridemia, Ataxia, Splenomegaly, Increased circulating ferritin concentr... OMIM:603553
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypercholesterolemia, Steppage gait, Hypoalbuminemia, Ataxia ORPHA:94124
Gaisböck Syndrome
Hypertriglyceridemia, Splenomegaly, Hyperproteinemia, Increased circulating renin level, Hyperuri... ORPHA:90041
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypercholesterolemia, Steppage gait, Hypoalbuminemia, Ataxia OMIM:607250
Pandas
Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Irritability, Tics, Attention ... ORPHA:66624
Kerion Celsi
Lymphadenopathy ORPHA:499
Immunodeficiency 75 With Lymphoproliferation
Hepatosplenomegaly, Lymphadenopathy, Follicular hyperplasia OMIM:619126
Gastritis, Familial Giant Hypertrophic
Hypoproteinemia OMIM:137280
Nephrotic Syndrome, Type 2
Hyperlipidemia, Hypoalbuminemia OMIM:600995
Nephrotic Syndrome, Type 15
Hypoalbuminemia OMIM:617609
Erythroderma, Lethal Congenital
Hypoalbuminemia OMIM:227090
Diarrhea 7, Protein-Losing Enteropathy Type
Hypercholesterolemia, Hyperlipidemia, Hypoalbuminemia OMIM:615863
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency
Increased circulating creatine kinase MM isoform, Hypoalbuminemia, Hypermethioninemia OMIM:613752
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Hypoproteinemia OMIM:221400
Adenocarcinoma Of The Esophagus
Lymphadenopathy ORPHA:99976
Refractory Celiac Disease
Hypomagnesemia, Hypoalbuminemia, Hypocalcemia, Hypophosphatemia, Hypoproteinemia, Abnormal spleen... ORPHA:398063
Immunodeficiency 43
Hypoproteinemia, Decreased circulating beta-2-microglobulin level, Hypoalbuminemia OMIM:241600
Diarrhea 13
Hypoalbuminemia OMIM:620357
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Hypoalbuminemia ORPHA:88643
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Ataxia, Elevated circulating creatine kinase concentration, Elevated circulating alpha-fetoprotei... ORPHA:64753
Omenn Syndrome
Hypoproteinemia, Splenomegaly, Hypoplasia of the thymus, Lymphadenopathy OMIM:603554
Analbuminemia
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypoalbuminemia, Elevated circulat... OMIM:616000
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Ataxia, Elevated circulating creatine kinase concentration, Limb ataxia, Gait ataxia, Hypoalbumin... OMIM:208920
Leishmaniasis
Splenomegaly, Hypoalbuminemia, Anorexia, Lymphadenopathy ORPHA:507
Ménétrier Disease
Hypoproteinemia, Hypoalbuminemia, Anorexia ORPHA:2494
Nephrotic Syndrome, Type 1
Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia OMIM:256300
Nephrotic Syndrome, Type 9
Hypoalbuminemia OMIM:615573
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Splenomegaly, Anorexia, Lymphadenopathy ORPHA:86893
Leptospirosis
Hyperproteinemia, Anorexia, Lymphadenopathy ORPHA:509
Focal Segmental Glomerulosclerosis 6
Hypoalbuminemia OMIM:614131
Granulomatous Slack Skin
Hypercalcemia, Abnormal lymph node morphology ORPHA:33111
Coenzyme Q10 Deficiency, Primary, 3
Hypoalbuminemia OMIM:614652
Primary Intestinal Lymphangiectasia
Abnormal lymphatic vessel morphology, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia, Intestinal l... ORPHA:90362
Hemophagocytic Lymphohistiocytosis, Familial, 4
Splenomegaly, Hypertriglyceridemia, Increased circulating ferritin concentration, Lymphadenopathy OMIM:603552
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, Lymphadenopathy... OMIM:613101
Immunodeficiency 104
Splenomegaly, Lymphadenopathy OMIM:608971
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Hypoproteinemia ORPHA:1116
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hypoproteinemia, Intestinal lymphangiectasia, Hypoalbuminemia OMIM:226300
Autoinflammation With Infantile Enterocolitis
Splenomegaly, Hypoalbuminemia, Increased circulating ferritin concentration, Elevated circulating... OMIM:616050
Congenital Analbuminemia
Hyperlipidemia, Increased alpha-globulin, Hypoalbuminemia, Hypercholesterolemia, Hypoproteinemia ORPHA:86816
Kimura Disease
Lymphadenopathy, Follicular hyperplasia ORPHA:482
Lymphoproliferative Syndrome, X-Linked, 1
Splenomegaly, Hypoalbuminemia, Elevated circulating C-reactive protein concentration, Lymphadenop... OMIM:308240
Nephrotic Syndrome, Type 7
Hypoalbuminemia OMIM:615008
Dengue Fever
Lethargy, Hypoproteinemia ORPHA:99828
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Hyperactivity, Broad-based gait, Anorexia, Aggressive behavior, Abnormal fear-induced behavior, I... ORPHA:3077
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Abnormal fear-induced behavior, Pseudobulbar paralysis, Aggressive behavior ORPHA:208441
Nephrotic Syndrome, Type 22
Hypoproteinemia OMIM:619155
Burkitt Lymphoma
Abnormality of the spleen, Hyperuricemia, Abnormal lymph node morphology ORPHA:543
Chylomicron Retention Disease
Hypotriglyceridemia, Hypoalbuminemia, Decreased LDL cholesterol concentration, Hypocholesterolemia OMIM:246700
Galloway-Mowat Syndrome 6
Abnormal repetitive mannerisms, Hypoalbuminemia, Paroxysmal bursts of laughter OMIM:618347
Ataxia-Oculomotor Apraxia 4
Hypercholesterolemia, Ataxia, Hypoalbuminemia, Elevated circulating alpha-fetoprotein concentration OMIM:616267
Alpha-Heavy Chain Disease
Splenomegaly, Hypocalcemia, Lymphadenopathy ORPHA:100025
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Elevated circulating creatine kinase concentration, Splenomegaly, Lymphadenitis, Lymphadenopathy,... OMIM:615895
Congenital Enterocyte Heparan Sulfate Deficiency
Abnormal circulating protein concentration, Abnormal circulating polysaccharide concentration, Hy... ORPHA:103910
Familial Cold Autoinflammatory Syndrome 2
Splenomegaly, Elevated circulating C-reactive protein concentration, Lymphadenopathy OMIM:611762
Primary Membranoproliferative Glomerulonephritis
Hypoalbuminemia ORPHA:54370
Autoinflammation With Episodic Fever And Lymphadenopathy
Splenomegaly, Recurrent tonsillitis, Lymphadenopathy OMIM:618852
Congenital Disorder Of Glycosylation, Type Ij
Hypoproteinemia, Aggressive behavior OMIM:608093
Focal Segmental Glomerulosclerosis 1
Hyperlipidemia, Hypoalbuminemia OMIM:603278
Deafness, Autosomal Dominant 34, With Or Without Inflammation
Lymphadenopathy OMIM:617772
Macrophage Activation Syndrome
Hypertriglyceridemia, Elevated circulating C-reactive protein concentration, Splenomegaly, Increa... ORPHA:158061
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Thyroid lymphangiectasia, Splenomegaly, Pancreatic lymphangiectasis, Pulmonary lymphangiectasia, ... OMIM:235255
Triokinase And Fmn Cyclase Deficiency Syndrome
Broad-based gait, Hypoalbuminemia OMIM:618805
Alg6-Cdg
Hypoalbuminemia, Decreased LDL cholesterol concentration, Ataxia ORPHA:79320
Congenital Lethal Erythroderma
Hypoalbuminemia ORPHA:1954
Mast Cell Sarcoma
Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:66661
Fibronectin Glomerulopathy
Hypoalbuminemia ORPHA:84090
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hypertriglyceridemia, Hypoalbuminemia, Hepatosplenomegaly OMIM:619013
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Splenomegaly, Lymphadenopathy ORPHA:444463
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Elevated circulating creatine kinase concentration, Increased circulating free fatty acid level, ... ORPHA:26793
Fish-Eye Disease
Splenomegaly, Decreased HDL cholesterol concentration, Lymphadenopathy ORPHA:79292
Follicular Lymphoma
Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:545
Immunodeficiency 103, Susceptibility To Fungal Infections
Decreased serum iron, Lymphadenopathy OMIM:212050
Galloway-Mowat Syndrome 8
Hypoalbuminemia OMIM:618349
Nephrotic Syndrome, Type 3
Hypoalbuminemia OMIM:610725
Autoimmune Lymphoproliferative Syndrome, Type Iii
Generalized lymphadenopathy, Elevated circulating C-reactive protein concentration, Follicular hy... OMIM:615559
Immunodeficiency 32A
Lymphadenitis, Lymphadenopathy OMIM:614893
Classic Hodgkin Lymphoma
Ataxia, Anorexia, Splenomegaly, Lymphadenopathy, Bone marrow hypocellularity ORPHA:391
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Splenomegaly, Pancreatic lymphangiectasis, Pulmonary lymphangiectasia, Hepatosplenomegaly, Hypoca... ORPHA:1655
Pancreatic insufficiency, combined exocrine
Hypoproteinemia OMIM:260450
Lymphoproliferative Syndrome 3
Hepatosplenomegaly, Lymphadenopathy OMIM:618261
Nephrotic Syndrome, Type 6
Hypoalbuminemia OMIM:614196
Refractory Anemia With Excess Blasts
Abnormal circulating protein concentration, Abnormal circulating albumin concentration, Bone marr... ORPHA:86839
Chédiak-Higashi Syndrome
Hyponatremia, Hypertriglyceridemia, Ataxia, Splenomegaly, Increased circulating ferritin concentr... ORPHA:167
Immunodeficiency 109 With Lymphoproliferation
Splenomegaly, Generalized lymphadenopathy, Hypertriglyceridemia OMIM:620282
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia
Chronic noninfectious lymphadenopathy, Abnormal lymph node morphology ORPHA:97290
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypertyrosinemia, Decreased HDL cholesterol concentration, Abnormal circulating lipid concentrati... ORPHA:247598
Heme Oxygenase 1 Deficiency
Elevated circulating C-reactive protein concentration, Asplenia, Increased circulating ferritin c... OMIM:614034
Familial Papillary Or Follicular Thyroid Carcinoma
Chronic noninfectious lymphadenopathy, Abnormal lymph node morphology ORPHA:319487
Rhabdoid Tumor
Irritability, Hypercalcemia, Lymphadenopathy ORPHA:69077
Immunodeficiency 32B
Splenomegaly, Hypoalbuminemia OMIM:226990
Immunodeficiency With Hyper-Igm, Type 5
Lymphadenopathy OMIM:608106
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Abnormality of the lymphatic system, Elevated circulating C-reactive protein concentration, Abnor... ORPHA:54251
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Splenomegaly, Lymphadenopathy OMIM:615513
Systemic-Onset Juvenile Idiopathic Arthritis
Splenomegaly, Elevated circulating C-reactive protein concentration, Lymphadenopathy ORPHA:85414
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Lymphadenopathy, Fluctuating splenomegaly OMIM:619220
Genetic Steroid-Resistant Nephrotic Syndrome
Irritability, Hypoalbuminemia ORPHA:656
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Conjugated hyperbilirubinemia, Hyperkalemia, Hypoalbuminemia, Increased total bilirubin OMIM:618528
Immunodeficiency 76
Splenomegaly, Lymphadenopathy OMIM:619164
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Hepatosplenomegaly, Lymphadenopathy OMIM:618982
Familial Hemophagocytic Lymphohistiocytosis
Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, Lymphadenopathy... ORPHA:540
Immunodeficiency With Hyper-Igm, Type 2
Lymphadenopathy OMIM:605258
Mu-Heavy Chain Disease
Splenomegaly, Lymphadenopathy ORPHA:100024
Pleural Mesothelioma
Dysphagia, Lymphadenopathy ORPHA:50251
Congenital Disorder Of Glycosylation, Type Ib
Lymphangiectasis, Hypoalbuminemia OMIM:602579
Alg1-Cdg
Hypoalbuminemia ORPHA:79327
Generalized Eruptive Histiocytosis
Lymphadenopathy ORPHA:157991
Rosaï-Dorfman Disease
Lymphadenopathy ORPHA:158014
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy OMIM:300853
Eosinophilic Gastroenteritis
Hypoalbuminemia, Elevated circulating C-reactive protein concentration, Dysphagia ORPHA:2070
Cinca Syndrome
Lymphadenopathy, Elevated circulating C-reactive protein concentration, Hepatosplenomegaly OMIM:607115
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies
Elevated circulating amyloid A, Lymphadenopathy, Elevated circulating C-reactive protein concentr... OMIM:619750
Immunodeficiency 52
Splenomegaly, Lymphadenopathy OMIM:617514
Immunodeficiency With Hyper-Igm, Type 3
Absence of lymph node germinal center OMIM:606843
Porphyria Due To Ala Dehydratase Deficiency
Hyponatremia, Restlessness, Abnormal circulating porphyrin concentration, Abnormal fear-induced b... ORPHA:100924
Hepatoportal Sclerosis
Hypersplenism, Splenomegaly, Hypoalbuminemia, Hyperbilirubinemia ORPHA:64743
Liver Failure, Infantile, Transient
Irritability, Hypoalbuminemia, Hyperbilirubinemia OMIM:613070
Immunodeficiency, Common Variable, 2
Splenomegaly, Follicular hyperplasia, Lymphadenopathy OMIM:240500
Purine Nucleoside Phosphorylase Deficiency
Hypouricemia, Increased circulating guanosine concentration, Ataxia, Splenomegaly, Lymph node hyp... OMIM:613179
Immunodeficiency 64 With Lymphoproliferation
Splenomegaly, Mediastinal lymphadenopathy, Cervical lymphadenopathy, Lymphadenopathy, Hepatosplen... OMIM:618534
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Lymphadenopathy, Follicular hyperplasia OMIM:619846
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Decreased circulating copper concentration, Decreased circulating ceruloplasmin concentration, Hy... OMIM:242150
Niemann-Pick Disease, Type A
Inability to walk, Splenomegaly, Lymphadenopathy, Athetosis, Irritability OMIM:257200
Johanson-Blizzard Syndrome
Hypoproteinemia ORPHA:2315
Pfapa Syndrome
Splenomegaly, Lymphadenopathy ORPHA:42642
Reni Syndrome
Hypertriglyceridemia, Hypoalbuminemia, Ataxia OMIM:617575
Immunodeficiency 27B
Generalized lymphadenopathy OMIM:615978
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Cervical lymphadenopathy OMIM:618987
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Generalized lymphadenopathy, Aplasia of the thymus, Splenomegaly, Lymph node hypoplasia, Absent t... OMIM:602450
Griscelli Syndrome Type 2
Splenomegaly, Hyperlipidemia, Lymphadenopathy ORPHA:79477
S-Adenosylhomocysteine Hydrolase Deficiency
Elevated circulating creatine kinase concentration, Abnormal circulating homocysteine concentrati... ORPHA:88618
Immunodeficiency With Hyper-Igm, Type 4
Absence of lymph node germinal center OMIM:608184
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypercholesterolemia, Abnormal circulating lipid concentration, Hypoalbuminemia, Hypertriglycerid... ORPHA:567548
Nephrotic Syndrome, Type 8
Hypoalbuminemia OMIM:615244
Caspase 8 Deficiency
Splenomegaly, Lymphadenopathy OMIM:607271
Griscelli Syndrome
Ataxia, Splenomegaly, Lymphadenopathy, Bone marrow hypocellularity, Abnormal circulating lipid co... ORPHA:381
Congenital Disorder Of Glycosylation, Type Ih
Elevated circulating creatinine concentration, Hypoalbuminemia OMIM:608104
Nephrotic Syndrome, Type 11
Hypercholesterolemia, Hypoalbuminemia OMIM:616730
Leukocyte Adhesion Deficiency, Type Iii
Splenomegaly, Abnormal lymph node morphology, Hepatosplenomegaly OMIM:612840
Mpi-Cdg
Hypoalbuminemia ORPHA:79319
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Hypoalbuminemia, Hepatosplenomegaly ORPHA:367
Lymphoproliferative Syndrome 1
Splenomegaly, Increased circulating ferritin concentration, Elevated circulating C-reactive prote... OMIM:613011
Classic Mycosis Fungoides
Splenomegaly, Lymphadenopathy ORPHA:2584
Pancreatoblastoma
Elevated maternal serum alpha-fetoprotein, Abnormal lymph node morphology ORPHA:677
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Hyperactivity, Pericardial lymphangiectasia, Thyroid lymphangiectasia, Pulmonary lymphangiectasia... OMIM:235510
Wolcott-Rallison Syndrome
Hyponatremia, Hyperammonemia, Hypoalbuminemia, Difficulty walking, Hyperbilirubinemia ORPHA:1667
Mucopolysaccharidosis-Plus Syndrome
Inability to walk, Splenomegaly, Hypoalbuminemia, Bone marrow hypocellularity OMIM:617303
Schnitzler Syndrome
Splenomegaly, Lymphadenopathy ORPHA:37748
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Absent tonsils, Absence of lymph node germinal center ORPHA:277
Activated Pi3K-Delta Syndrome
Splenomegaly, Recurrent tonsillitis, Lymphadenopathy ORPHA:397596
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Splenomegaly, Elevated circulating alpha-fetoprotein concentration, Hypoalbuminemia, Hyperbilirub... OMIM:251880
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2
Hypoalbuminemia OMIM:614441
Tularemia
Abnormal nasopharyngeal adenoid morphology, Cervical lymphadenopathy, Mediastinal lymphadenopathy... ORPHA:3392
Congenital Enterovirus Infection
Irritability, Hypoalbuminemia, Hyperammonemia ORPHA:292
Mycosis Fungoides
Lymphadenopathy OMIM:254400
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Unsteady gait, Hypoalbuminemia, Dysphagia, Gait ataxia OMIM:254900
Aicardi-Goutieres Syndrome 9
Irritability, Hypoalbuminemia, Self-mutilation, Hepatosplenomegaly OMIM:619487
Congenital Toxoplasmosis
Lymphadenopathy ORPHA:858
Proteasome-Associated Autoinflammatory Syndrome 2
Elevated circulating C-reactive protein concentration, Lymphadenopathy OMIM:618048
Immunodeficiency 105
Hepatosplenomegaly, Absence of lymph node germinal center OMIM:619924
Pseudomyxoma Peritonei
Lymphadenopathy ORPHA:26790
Thyroid Lymphoma
Dysphagia, Lymphadenopathy ORPHA:97285
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hypertyrosinemia, Conjugated hyperbilirubinemia, Hypoalbuminemia, Hypermethioninemia, Hyperbiliru... OMIM:617156
Immunodeficiency 91 And Hyperinflammation
Lymphadenopathy, Elevated circulating C-reactive protein concentration, Hepatosplenomegaly OMIM:619644
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Hypoalbuminemia OMIM:617021
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Splenomegaly, Lymphadenopathy OMIM:618495
Abetalipoproteinemia
Decreased HDL cholesterol concentration, Broad-based gait, Ataxia, Decreased LDL cholesterol conc... ORPHA:14
Chronic Bilirubin Encephalopathy
Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia ORPHA:529808
Acute Bilirubin Encephalopathy
Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia ORPHA:529799
Immunodeficiency 54
Splenomegaly, Lymphadenopathy OMIM:609981
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Splenomegaly, Lymphadenopathy OMIM:150550
Immunodeficiency, Common Variable, 1
Splenomegaly, Lymphadenopathy OMIM:607594
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Decreased serum iron, Dysphagia, Depression, Decreased serum zinc, Hypoalbuminemia, Decreased cir... ORPHA:89842
Legionnaires Disease
Hyponatremia, Ataxia, Anorexia, Splenomegaly, Lymphadenopathy, Bone marrow hypocellularity ORPHA:549
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Splenomegaly, Abnormal blood ion concentration, Lymphadenopathy, Hypoalbuminemia, Hypocalcemia, H... ORPHA:37042
Immunodeficiency 97 With Autoinflammation
Hypertriglyceridemia, Splenomegaly, Mediastinal lymphadenopathy, Increased circulating ferritin c... OMIM:619802
Indolent Systemic Mastocytosis
Splenomegaly, Lymphadenopathy ORPHA:98848
Avian Influenza
Hypoalbuminemia, Elevated circulating creatine kinase concentration, Elevated circulating C-react... ORPHA:454836
Mevalonic Aciduria
Ataxia, Elevated circulating creatine kinase concentration, Elevated circulating C-reactive prote... OMIM:610377
Adult-Onset Still Disease
Generalized lymphadenopathy, Elevated circulating C-reactive protein concentration, Splenomegaly,... ORPHA:829
Scrub Typhus
Splenomegaly, Lethargy, Lymphadenopathy ORPHA:83317
Hereditary Amyloidosis With Primary Renal Involvement
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... ORPHA:85450
Generalized Pustular Psoriasis
Hyponatremia, Hypoalbuminemia, Hypocalcemia, Elevated circulating C-reactive protein concentration ORPHA:247353
Cold Agglutinin Disease
Splenomegaly, Lymphadenopathy ORPHA:56425
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Splenomegaly, Lymphadenopathy OMIM:619375
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Conjugated hyperbilirubinemia, Decreased serum zinc, Hypoalbuminemia, Hyperammonemia OMIM:617093
Castleman Disease
Generalized lymphadenopathy, Elevated circulating C-reactive protein concentration, Follicular hy... ORPHA:160
Meige Disease
Lymph node hypoplasia, Absence of lymph node germinal center ORPHA:90186
Lymphoproliferative Syndrome 2
Splenomegaly, Lymphadenopathy, Hepatosplenomegaly OMIM:615122
Ras-Associated Autoimmune Leukoproliferative Disorder
Splenomegaly, Follicular hyperplasia OMIM:614470
Cinca Syndrome
Splenomegaly, Elevated circulating C-reactive protein concentration, Lymphadenopathy ORPHA:1451
Middle Ear Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy ORPHA:100084
Liver Disease, Severe Congenital
Hyponatremia, Elevated circulating alpha-fetoprotein concentration, Splenomegaly, Increased circu... OMIM:619991
Medullary Thyroid Carcinoma
Dysphagia, Lymphadenopathy ORPHA:1332
Immunodeficiency 7
Splenomegaly, Lymphadenopathy OMIM:615387
Roifman Syndrome
Splenomegaly, Lymphadenopathy OMIM:616651
Anaplastic Thyroid Carcinoma
Dysphagia, Lymphadenopathy ORPHA:142
Combined Immunodeficiency Due To Zap70 Deficiency
Lymphadenitis, Abnormal lymph node morphology, Lymphadenopathy, Hepatosplenomegaly ORPHA:911
Roifman Syndrome
Lymphadenopathy, Hepatosplenomegaly ORPHA:353298
Wilson Disease
Decreased circulating ceruloplasmin concentration, Hypouricemia, Splenomegaly, Hypoalbuminemia, H... OMIM:277900
Congenital Disorder Of Glycosylation, Type Ia
Ataxia, Hypoalbuminemia, Dysmetria, Hypocholesterolemia OMIM:212065
Marburg Hemorrhagic Fever
Elevated circulating creatine kinase concentration, Hyperamylasemia, Anorexia, Aggressive behavio... ORPHA:99826
Primary Myelofibrosis
Splenomegaly, Lymphadenopathy, Anorexia, Hepatosplenomegaly ORPHA:824
Acquired Hypertrichosis Lanuginosa
Lymphadenopathy ORPHA:2221
Carcinoid Syndrome
Chronic noninfectious lymphadenopathy, Abnormal B-type natriuretic peptide concentration ORPHA:100093
Thymic Neuroendocrine Tumor
Neoplasm of the thymus, Mediastinal lymphadenopathy, Hypercalcemia, Chronic noninfectious lymphad... ORPHA:97289
Acute Interstitial Pneumonia
Elevated circulating creatinine concentration, Elevated circulating C-reactive protein concentrat... ORPHA:79126
Aregenerative Anemia
Depression, Emotional lability, Bone marrow hypocellularity, Lymphadenopathy ORPHA:101096
Immunodeficiency 10
Lymphadenopathy OMIM:612783
Deafness-Lymphedema-Leukemia Syndrome
Splenomegaly, Bone marrow hypocellularity, Lymphadenopathy ORPHA:3226
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Splenomegaly, Lymphadenitis, Recurrent tonsillitis, Lymphadenopathy, Hepatosplenomegaly OMIM:618935
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Elevated circulating C-reactive protein concentration, Lymphadenopathy OMIM:617099
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Lymph node hypoplasia, Absent tonsils ORPHA:276
Cutaneous Mastocytoma
Lymphadenopathy ORPHA:79455
Autoimmune Lymphoproliferative Syndrome
Splenomegaly, Chronic noninfectious lymphadenopathy, Follicular hyperplasia OMIM:601859
Al Amyloidosis
Increased circulating NT-proBNP concentration, Hypoalbuminemia, Dysphagia ORPHA:85443
Autoimmune Lymphoproliferative Syndrome, Type Iia
Splenomegaly, Follicular hyperplasia, Chronic noninfectious lymphadenopathy, Lymphadenopathy OMIM:603909
Boutonneuse Fever
Cervical lymphadenopathy, Lymphadenopathy ORPHA:83313
Kikuchi-Fujimoto Disease
Generalized lymphadenopathy, Ataxia, Elevated circulating C-reactive protein concentration, Anore... ORPHA:50918
Aggressive Systemic Mastocytosis
Hypersplenism, Lymphadenopathy, Anorexia, Hepatosplenomegaly ORPHA:98850
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Inability to walk, Hypoalbuminemia, Bone marrow hypocellularity, Hepatosplenomegaly ORPHA:505248
Diarrhea 10, Protein-Losing Enteropathy Type
Hyponatremia, Hypertriglyceridemia, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia OMIM:618183
Combined Oxidative Phosphorylation Deficiency 37
Hyperalaninemia, Hypoalbuminemia OMIM:618329
Papa Syndrome
Lymphadenopathy ORPHA:69126
Desmoplastic Small Round Cell Tumor
Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:83469
Gamma-Heavy Chain Disease
Splenomegaly, Dysphagia, Lymphadenopathy ORPHA:100026
Nephroblastoma
Lymphadenopathy ORPHA:654
Trichohepatoenteric Syndrome 1
Splenomegaly, Increased serum iron, Hypoalbuminemia, Hypermethioninemia, Abnormality of iron home... OMIM:222470
Bacterial Toxic-Shock Syndrome
Hypocalcemia, Elevated circulating creatinine concentration, Hypoalbuminemia, Elevated circulatin... ORPHA:36234
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Hypernatremia, Hypoalbuminemia OMIM:615508
Squamous Cell Carcinoma Of The Anal Canal
Lymphadenopathy ORPHA:424019
Sézary Syndrome
Splenomegaly, Lymphadenopathy ORPHA:3162
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Hypoalbuminemia, Elevated circulating creatine kinase concentration OMIM:619055
Immunodeficiency 82 With Systemic Inflammation
Elevated circulating C-reactive protein concentration, Follicular hyperplasia, Anorexia, Splenome... OMIM:619381
Graft Versus Host Disease
Irritability, Lymphadenopathy, Hyperbilirubinemia, Hepatosplenomegaly ORPHA:39812
Hyperimmunoglobulinemia D With Periodic Fever
Ataxia, Lymphadenopathy ORPHA:343
Pulmonary Non-Tuberculous Mycobacterial Infection
Lymphadenopathy ORPHA:411703
Hypocomplementemic Urticarial Vasculitis
Splenomegaly, Ataxia, Lymphadenopathy ORPHA:36412
Cyclic Neutropenia
Cervical lymphadenopathy, Recurrent tonsillitis, Lymphadenopathy ORPHA:2686
Alg12-Cdg
Hyponatremia, Hypoalbuminemia, Hypocholesterolemia ORPHA:79324
Juvenile Polyposis Syndrome
Hypokalemia, Hypoalbuminemia OMIM:174900
Galloway-Mowat Syndrome 1
Hypoalbuminemia, Ataxia OMIM:251300
Proteasome-Associated Autoinflammatory Syndrome 4
Splenomegaly, Lymphadenopathy OMIM:619183
American Trypanosomiasis
Splenomegaly, Lymphadenopathy ORPHA:3386
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Absent peripheral lymph nodes in presence of infection ORPHA:98813
Amoebiasis Due To Entamoeba Histolytica
Hypoalbuminemia ORPHA:67
Primary Biliary Cholangitis
Conjugated hyperbilirubinemia, Abnormal circulating lipid concentration, Hypoalbuminemia ORPHA:186
Sting-Associated Vasculopathy, Infantile-Onset
Follicular hyperplasia, Elevated circulating C-reactive protein concentration, Paratracheal lymph... OMIM:615934
Xfe Progeroid Syndrome
Hypoalbuminemia OMIM:610965
Primary Hepatic Neuroendocrine Carcinoma
Elevated carcinoembryonic antigen level, Chronic noninfectious lymphadenopathy, Elevated circulat... ORPHA:100085
Pierson Syndrome
Hypoproteinemia OMIM:609049
Galloway-Mowat Syndrome 3
Hypoalbuminemia OMIM:617729
Primary Sclerosing Cholangitis
Splenomegaly, Hypoalbuminemia, Depression, Hepatosplenomegaly ORPHA:171
Diffuse Cutaneous Mastocytosis
Abnormality of the spleen, Lymphadenopathy ORPHA:79456
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Splenomegaly, Lymphadenopathy OMIM:616100
Melkersson-Rosenthal Syndrome
Lymphadenopathy ORPHA:2483
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Cervical lymphadenopathy, Elevated circulating C-reactive protein concentration, Lymphadenopathy OMIM:617718
Omenn Syndrome
Splenomegaly, Lymphadenopathy ORPHA:39041
Proteasome-Associated Autoinflammatory Syndrome 3
Splenomegaly, Hypertriglyceridemia, Lymphadenopathy OMIM:617591
Acute Monoblastic/Monocytic Leukemia
Cervical lymphadenopathy, Anorexia ORPHA:514
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Ataxia, Elevated circulating C-reactive protein concentration, Splenomegaly, Lymphadenopathy, Hep... OMIM:615688
Acute Promyelocytic Leukemia
Addictive alcohol use, Anorexia, Lymphadenopathy ORPHA:520
Riddle Syndrome
Generalized lymphadenopathy, Ataxia, Elevated circulating alpha-fetoprotein concentration, Gait d... ORPHA:420741
Felty Syndrome
Splenomegaly, Bone marrow hypocellularity, Lymphadenopathy ORPHA:47612
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Hyperlipidemia, Hypoalbuminemia ORPHA:567546
Secondary Intestinal Lymphangiectasia
Reduced circulating transferrin concentration, Decreased prealbumin level, Hypoalbuminemia, Hypoc... ORPHA:90363
Waldenström Macroglobulinemia
Splenomegaly, Ataxia, Anorexia, Lymphadenopathy ORPHA:33226
Immunodeficiency 98 With Autoinflammation, X-Linked
Splenomegaly, Bone marrow hypocellularity, Lymphadenopathy OMIM:301078
Combined Immunodeficiency Due To Crac Channel Dysfunction
Splenomegaly, Lymphadenopathy ORPHA:169090
Insulin-Resistance Syndrome Type B
Abnormal circulating fatty-acid concentration, Abnormal circulating lipid concentration, Hypotrig... ORPHA:2298
Klatskin Tumor
Lymphadenopathy ORPHA:99978
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Lymphadenopathy, Hepatosplenomegaly ORPHA:169154
Gm2 Gangliosidosis, Ab Variant
Abnormal fear-induced behavior, Inappropriate behavior ORPHA:309246
Carney Triad
Mediastinal lymphadenopathy, Anorexia, Lymphadenopathy ORPHA:139411
Smith-Lemli-Opitz Syndrome
Hyperactivity, Aggressive behavior, Splenomegaly, Hypoalbuminemia, Elevated circulating 7-dehydro... OMIM:270400
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Enlarged tonsils, Lymphadenopathy, Hepatosplenomegaly OMIM:606367
Tangier Disease
Orange discolored tonsils, Hypertriglyceridemia, Chronic noninfectious lymphadenopathy, Hepatospl... ORPHA:31150
Chediak-Higashi Syndrome
Splenomegaly, Ataxia, Gait disturbance, Lymphadenopathy OMIM:214500
Mixed Connective Tissue Disease
Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:809
Immunodeficiency With Hyper-Igm, Type 1
Splenomegaly, Enlarged tonsils, Absence of lymph node germinal center OMIM:308230
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Splenomegaly, Lymphadenopathy ORPHA:436159
Immunodeficiency, Common Variable, 8, With Autoimmunity
Splenomegaly, Generalized lymphadenopathy, Lymphadenopathy OMIM:614700
Neuroendocrine Tumor Of The Colon
Chronic noninfectious lymphadenopathy, Anorexia ORPHA:100080
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Hypoalbuminemia ORPHA:79396
Lig4 Syndrome
Lymphadenopathy ORPHA:99812
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Lymphadenopathy OMIM:304790
Familial Pancreatic Carcinoma
Lymphadenopathy, Anorexia, Hepatosplenomegaly ORPHA:1333
T-Cell Immunodeficiency With Thymic Aplasia
Hypocalcemic tetany, Aplasia of the thymus, Lymphadenopathy ORPHA:83471
Hyper-Igd Syndrome
Splenomegaly, Lymphadenitis, Lymphadenopathy, Hepatosplenomegaly OMIM:260920
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Accessory spleen, Hypertriglyceridemia, Splenomegaly, Lymphadenopathy, Polysplenia OMIM:619418
H Syndrome
Hypertriglyceridemia, Lymphadenopathy, Hepatosplenomegaly ORPHA:168569
Juvenile Polyposis Of Infancy
Hypoalbuminemia ORPHA:79076
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
Pulmonary Capillary Hemangiomatosis
Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:199241
Pediatric Systemic Lupus Erythematosus
Lymphadenopathy ORPHA:93552
Rajab Interstitial Lung Disease With Brain Calcifications 1
Hypoalbuminemia, Hypocalcemia, Unconjugated hyperbilirubinemia OMIM:613658
Agammaglobulinemia, X-Linked
Lymph node hypoplasia OMIM:300755
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Splenomegaly, Elevated circulating C-reactive protein concentration, Lymphadenopathy ORPHA:32960
Malt Lymphoma
Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:52417
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Splenomegaly, Lymphadenitis, Lymphadenopathy OMIM:233690
Farber Disease
Lymphadenopathy, Hepatosplenomegaly ORPHA:333
Drug Reaction With Eosinophilia And Systemic Symptoms
Lymphadenopathy ORPHA:139402
Juvenile Polyposis Syndrome
Hypoproteinemia ORPHA:2929
Q Fever
Splenomegaly, Lymphadenopathy, Anorexia, Hepatosplenomegaly ORPHA:781
Lymphatic Filariasis
Lymphadenitis, Abnormality of the lymphatic system, Lymphangiectasis, Lymphadenopathy ORPHA:2035
Hennekam Syndrome
Splenomegaly, Pulmonary lymphangiectasia, Lymphadenopathy, Hypocalcemia, Lymphangioma ORPHA:2136
Gallbladder Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy, Anorexia ORPHA:100086
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Absence of lymph node germinal center, Hepatosplenomegaly ORPHA:79124
Behçet Disease
Ataxia, Anorexia, Splenomegaly, Lymphadenopathy, Irritability, Gait disturbance ORPHA:117
Histiocytosis-Lymphadenopathy Plus Syndrome
Splenomegaly, Cervical lymphadenopathy, Lymphadenopathy, Hepatosplenomegaly OMIM:602782
Brucellosis
Anorexia, Elevated circulating C-reactive protein concentration, Hypersplenism, Splenomegaly, Lym... ORPHA:1304
Acute Generalized Exanthematous Pustulosis
Lymphadenopathy ORPHA:293173
Systemic Mastocytosis With Associated Hematologic Neoplasm
Splenomegaly, Lymphadenopathy ORPHA:98849
Poems Syndrome
Lymphadenopathy ORPHA:2905
Immunodeficiency 55
Lymphadenopathy OMIM:617827
Granulomatous Disease, Chronic, X-Linked
Splenomegaly, Lymphadenitis, Lymphadenopathy OMIM:306400
Selective Igm Deficiency
Lymphadenitis, Lymphadenopathy ORPHA:331235
Autosomal Recessive Malignant Osteopetrosis
Splenomegaly, Hypophosphatemia, Hypocalcemia, Lymphadenopathy ORPHA:667
Common Variable Immunodeficiency
Splenomegaly, Lymphadenopathy ORPHA:1572
Biliary, Renal, Neurologic, And Skeletal Syndrome
Conjugated hyperbilirubinemia, Splenomegaly, Increased circulating ferritin concentration, Elevat... OMIM:619534
Spondyloenchondrodysplasia With Immune Dysregulation
Lymphadenopathy OMIM:607944
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Absent peripheral lymph nodes in presence of infection OMIM:600802
Tropical Endomyocardial Fibrosis
Splenomegaly, Hypoalbuminemia ORPHA:75565
Autoimmune Lymphoproliferative Syndrome
Chronic noninfectious lymphadenopathy, Hypersplenism, Splenomegaly, Lymphadenopathy, Bone marrow ... ORPHA:3261
Chikungunya
Depression, Cervical lymphadenopathy, Lymphadenopathy ORPHA:324625
Crimean-Congo Hemorrhagic Fever
Elevated circulating creatine kinase concentration, Anorexia, Splenomegaly, Lymphadenopathy, Agit... ORPHA:99827
Lymphangioleiomyomatosis
Pulmonary lymphangiomyomatosis, Abnormality of the lymphatic system, Lymphadenopathy ORPHA:538
Immunodeficiency 31C
Splenomegaly, Lymphadenopathy OMIM:614162
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Lymphadenopathy, Hepatosplenomegaly ORPHA:85408
Igg4-Related Kidney Disease
Elevated circulating C-reactive protein concentration, Lymphadenitis, Elevated circulating creati... ORPHA:449395
African Trypanosomiasis
Akinesia, Aggressive behavior, Splenomegaly, Hepatosplenomegaly, Lymphadenopathy, Choreoathetosis... ORPHA:3385
Proteasome-Associated Autoinflammatory Syndrome 1
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating C-reactive pr... OMIM:256040
Systemic Lupus Erythematosus
Depression, Lymphadenopathy ORPHA:536
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Hypoalbuminemia OMIM:614748
Coccidioidomycosis
Abnormality of the spleen, Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:228123
Igg4-Related Ophthalmic Disease
Elevated circulating C-reactive protein concentration, Lymphadenopathy ORPHA:449563
Adenocarcinoma Of The Anal Canal
Lymphadenopathy ORPHA:424016
Familial Mediterranean Fever
Splenomegaly, Lymphadenopathy ORPHA:342
Plague
Anorexia, Splenomegaly, Lymphadenitis, Unsteady gait, Enlarged mesenteric lymph node, Depression ORPHA:707
Ileal Neuroendocrine Tumor
Lymphadenopathy ORPHA:100078
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Self-injurious b... ORPHA:353281
Sarcoidosis
Abnormal lymph node morphology, Hypercalcemia, Lymphadenopathy ORPHA:797
Cushing Syndrome Due To Ectopic Acth Secretion
Anorexia, Neoplasm of the thymus, Depression, Abnormal lymph node morphology, Emotional lability ORPHA:99889
Primary Sjögren Syndrome
Depression, Lymphadenopathy ORPHA:289390
Igg4-Related Submandibular Gland Disease
Lymphadenopathy ORPHA:449432
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Self-injurious b... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Self-injurious b... ORPHA:353277
Igg4-Related Dacryoadenitis And Sialadenitis
Lymphadenopathy ORPHA:79078
Blau Syndrome
Splenomegaly, Lymphadenopathy ORPHA:90340
Pmm2-Cdg
Reduced thyroxin-binding globulin, Hypoalbuminemia, Ataxia 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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