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Gene: Armcx1 MGI:1925498

Gene Summary

Name:

armadillo repeat containing, X-linked 1

Synonyms:

3010033I09Rik

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
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.

Phenotype	Allele	Zyg	Life Stage	P Value
decreased exploration in new environment	Armcx1^em1(IMPC)Mbp	HOM	Early adult	5.12×10^-08
enlarged heart	Armcx1^em1(IMPC)Mbp	HEM	Early adult	0.00
abnormal lymph node morphology	Armcx1^em1(IMPC)Mbp	HEM	Early adult	0.00
abnormal heart morphology	Armcx1^em1(IMPC)Mbp	HEM	Early adult	0.00
enlarged lymph nodes	Armcx1^em1(IMPC)Mbp	HEM	Early adult	0.00

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

80 Images

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X-ray

XRay Images Whole Body Lateral Orientation

40 Images

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Human diseases caused by Armcx1 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.

Human diseases associated with Armcx1 (0 diseases)
Human diseases predicted to be associated with Armcx1 (355 diseases)

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

The table below shows human diseases predicted to be associated to Armcx1 by phenotypic similarity.

Disease	Matching phenotypes	Source
Hepatic Venoocclusive Disease With Immunodeficiency	Endocardial fibrosis, Absence of lymph node germinal center	OMIM:235550
Monoamine Oxidase A Deficiency	Cognitive impairment	ORPHA:3057
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency	Lymphadenopathy	ORPHA:319600
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)	Abnormal lymph node morphology	OMIM:136580
Ethanolaminosis	Cardiomegaly	OMIM:227150
Immunodeficiency 38 With Basal Ganglia Calcification	Lymphadenopathy	OMIM:616126
Reticuloendotheliosis, X-Linked	Hepatosplenomegaly, Lymphadenopathy	OMIM:312500
Hereditary Progressive Mucinous Histiocytosis	Lymphadenopathy	ORPHA:158025
Squamous Cell Carcinoma Of The Esophagus	Lymphadenopathy	ORPHA:99977
Pulmonary Nodular Lymphoid Hyperplasia	Mediastinal lymphadenopathy, Follicular hyperplasia	ORPHA:60026
Mantle Cell Lymphoma	Splenomegaly, Lymphadenopathy	ORPHA:52416
Immunodeficiency 75 With Lymphoproliferation	Hepatosplenomegaly, Lymphadenopathy, Follicular hyperplasia	OMIM:619126
Kerion Celsi	Lymphadenopathy	ORPHA:499
Cardiomyopathy, Dilated, 1I	Dilated cardiomyopathy, Cardiomegaly	OMIM:604765
Autoinflammation With Episodic Fever And Lymphadenopathy	Hepatomegaly, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy	OMIM:618852
Mast Cell Sarcoma	Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy	ORPHA:66661
Immunodeficiency 104	Hepatomegaly, Splenomegaly, Lymphadenopathy	OMIM:608971
Adenocarcinoma Of The Esophagus	Lymphadenopathy	ORPHA:99976
Kimura Disease	Lymphadenopathy, Follicular hyperplasia	ORPHA:482
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Hepatomegaly, Splenomegaly, Lymphadenopathy	ORPHA:86893
Immunodeficiency 32A	Lymphadenitis, Lymphadenopathy	OMIM:614893
Deafness, Autosomal Dominant 34, With Or Without Inflammation	Lymphadenopathy	OMIM:617772
Lymphoproliferative Syndrome 3	Hepatosplenomegaly, Lymphadenopathy	OMIM:618261
Follicular Lymphoma	Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy	ORPHA:545
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Splenomegaly, Lymphadenopathy	ORPHA:444463
Congenital Toxoplasmosis	Hepatomegaly, Cardiomegaly, Lymphadenopathy	ORPHA:858
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Cardiomegaly	ORPHA:88643
Fish-Eye Disease	Hepatomegaly, Splenomegaly, Lymphadenopathy	ORPHA:79292
Mu-Heavy Chain Disease	Hepatomegaly, Splenomegaly, Lymphadenopathy	ORPHA:100024
Alpha-Heavy Chain Disease	Hepatomegaly, Splenomegaly, Lymphadenopathy	ORPHA:100025
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Splenomegaly, Lymphadenopathy	OMIM:615513
Immunodeficiency 76	Splenomegaly, Lymphadenopathy	OMIM:619164
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Lymphadenopathy, Fluctuating splenomegaly	OMIM:619220
Cardiomyopathy, Familial Hypertrophic, 27	Cardiomegaly, Concentric hypertrophic cardiomyopathy, Ventricular septal hypertrophy, Cardiomyocy...	OMIM:618052
Pfapa Syndrome	Hepatomegaly, Splenomegaly, Lymphadenopathy	ORPHA:42642
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation	Hepatosplenomegaly, Lymphadenopathy	OMIM:618982
Mitochondrial Complex I Deficiency, Nuclear Type 39	Atrial septal defect, Hypertrophic cardiomyopathy, Perimembranous ventricular septal defect, Card...	OMIM:620135
Immunodeficiency With Hyper-Igm, Type 5	Lymphadenopathy	OMIM:608106
Granulomatous Slack Skin	Abnormal lymph node morphology	ORPHA:33111
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia	Chronic noninfectious lymphadenopathy, Abnormal lymph node morphology	ORPHA:97290
Immunodeficiency, Common Variable, 2	Hepatomegaly, Splenomegaly, Follicular hyperplasia, Lymphadenopathy	OMIM:240500
Familial Papillary Or Follicular Thyroid Carcinoma	Chronic noninfectious lymphadenopathy, Abnormal lymph node morphology	ORPHA:319487
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hepatomegaly, Splenomegaly, Lymphadenopathy	OMIM:603552
Immunodeficiency 27B	Generalized lymphadenopathy	OMIM:615978
Immunodeficiency 52	Splenomegaly, Lymphadenopathy	OMIM:617514
Systemic-Onset Juvenile Idiopathic Arthritis	Hepatomegaly, Splenomegaly, Pericarditis, Lymphadenopathy	ORPHA:85414
Immunodeficiency With Hyper-Igm, Type 2	Lymphadenopathy	OMIM:605258
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy	OMIM:300853
Rosaï-Dorfman Disease	Lymphadenopathy	ORPHA:158014
Immunodeficiency With Hyper-Igm, Type 3	Absence of lymph node germinal center	OMIM:606843
Generalized Eruptive Histiocytosis	Lymphadenopathy	ORPHA:157991
Leukocyte Adhesion Deficiency, Type Iii	Hepatomegaly, Splenomegaly, Abnormal lymph node morphology, Hepatosplenomegaly	OMIM:612840
Combined Oxidative Phosphorylation Deficiency 8	Hypertrophic cardiomyopathy, Cardiomegaly	OMIM:614096
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Lymphadenopathy, Follicular hyperplasia	OMIM:619846
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Splenomegaly, Lymphadenopathy, Hepatosplenomegaly	OMIM:613101
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Hepatomegaly, Generalized lymphadenopathy, Aplasia of the thymus, Splenomegaly, Lymph node hypopl...	OMIM:602450
Immunodeficiency 64 With Lymphoproliferation	Splenomegaly, Mediastinal lymphadenopathy, Cervical lymphadenopathy, Lymphadenopathy, Hepatosplen...	OMIM:618534
Laryngeal Neuroendocrine Tumor	Chronic noninfectious lymphadenopathy	ORPHA:100083
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Cardiomegaly	OMIM:300886
Attrv30M Amyloidosis	Cardiomyopathy, Cardiomegaly	ORPHA:85447
Ectodermal Dysplasia-Syndactyly Syndrome 2	Cardiomegaly	OMIM:613576
Burkitt Lymphoma	Abnormality of the spleen, Abnormal lymph node morphology	ORPHA:543
Infantile Sialic Acid Storage Disease	Hepatomegaly, Splenomegaly, Cardiomegaly	OMIM:269920
Pleural Mesothelioma	Hepatomegaly, Lymphadenopathy	ORPHA:50251
Autoimmune Lymphoproliferative Syndrome, Type Iii	Hepatomegaly, Generalized lymphadenopathy, Follicular hyperplasia, Mediastinal lymphadenopathy, S...	OMIM:615559
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia	Cervical lymphadenopathy	OMIM:618987
Congenital Myopathy 8	Cardiomegaly	OMIM:618654
Mucopolysaccharidosis, Type Iiib	Hepatomegaly, Splenomegaly, Asymmetric septal hypertrophy, Cardiomegaly	OMIM:252920
Familial Atrial Myxoma	Pulmonic valve myxoma, Cardiac myxoma, Bacterial endocarditis, Cardiomegaly	ORPHA:615
Cold Agglutinin Disease	Hepatomegaly, Splenomegaly, Lymphadenopathy	ORPHA:56425
Classic Mycosis Fungoides	Hepatomegaly, Splenomegaly, Lymphadenopathy	ORPHA:2584
Schnitzler Syndrome	Hepatomegaly, Splenomegaly, Lymphadenopathy	ORPHA:37748
Mitochondrial Complex I Deficiency, Nuclear Type 36	Perimembranous ventricular septal defect, Cardiomegaly	OMIM:619170
Congenitally Uncorrected Transposition Of The Great Arteries	Levotransposition of the great arteries, Hepatomegaly, Ventricular septal defect, Abnormal pulmon...	ORPHA:860
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Hepatomegaly, Splenomegaly, Lymphadenopathy	OMIM:618495
Familial Cold Autoinflammatory Syndrome 2	Splenomegaly, Lymphadenopathy	OMIM:611762
Immunodeficiency 27A	Splenomegaly, Enlarged mesenteric lymph node, Lymphadenopathy, Hepatosplenomegaly	OMIM:209950
Caspase 8 Deficiency	Splenomegaly, Lymphadenopathy	OMIM:607271
Immunodeficiency 109 With Lymphoproliferation	Splenomegaly, Generalized lymphadenopathy	OMIM:620282
Immunodeficiency With Hyper-Igm, Type 4	Absence of lymph node germinal center	OMIM:608184
Activated Pi3K-Delta Syndrome	Hepatomegaly, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy	ORPHA:397596
Classic Hodgkin Lymphoma	Hepatomegaly, Splenomegaly, Bone marrow hypocellularity, Lymphadenopathy	ORPHA:391
Mycosis Fungoides	Lymphadenopathy	OMIM:254400
Indolent Systemic Mastocytosis	Hepatomegaly, Splenomegaly, Lymphadenopathy	ORPHA:98848
Immunodeficiency 54	Hepatomegaly, Splenomegaly, Lymphadenopathy	OMIM:609981
Immunodeficiency 103, Susceptibility To Fungal Infections	Lymphadenopathy	OMIM:212050
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Hepatomegaly, Splenomegaly, Lymphadenopathy	OMIM:619375
Neuraminidase Deficiency	Hepatomegaly, Splenomegaly, Cardiomyopathy, Cardiomegaly	OMIM:256550
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Hepatomegaly, Dilated cardiomyopathy, Cardiomegaly	OMIM:600649
Roifman Syndrome	Hepatomegaly, Noncompaction cardiomyopathy, Ventricular septal defect, Splenomegaly, Lymphadenopathy	OMIM:616651
Immunodeficiency, Common Variable, 1	Hepatomegaly, Splenomegaly, Lymphadenopathy	OMIM:607594
Pseudo-Torch Syndrome 3	Lymphadenitis, Cardiomegaly	OMIM:618886
Immunodeficiency 105	Hepatosplenomegaly, Absence of lymph node germinal center	OMIM:619924
Immunodeficiency 7	Hepatomegaly, Splenomegaly, Lymphadenopathy	OMIM:615387
Ras-Associated Autoimmune Leukoproliferative Disorder	Hepatomegaly, Splenomegaly, Follicular hyperplasia	OMIM:614470
Congenital Tricuspid Valve Dysplasia	Hepatomegaly, Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous return, Abnormal tri...	ORPHA:555874
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Splenomegaly, Lymphadenopathy	OMIM:150550
Fixed Subaortic Stenosis	Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Abnormal heart morphology, Abnorm...	ORPHA:3092
American Trypanosomiasis	Hepatomegaly, Splenomegaly, Myocarditis, Lymphadenopathy, Cardiomyopathy	ORPHA:3386
Gaucher Disease, Type Iiic	Hepatomegaly, Mitral valve calcification, Cardiomegaly, Splenomegaly, Aortic valve calcification,...	OMIM:231005
Uruguay Faciocardiomusculoskeletal Syndrome	Ventricular hypertrophy, Left atrial enlargement, Cardiomegaly, Cardiomyopathy, Left ventricular ...	OMIM:300280
Neurooculocardiogenitourinary Syndrome	Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Cardiomegaly	OMIM:618652
Pseudomyxoma Peritonei	Lymphadenopathy	ORPHA:26790
Mitochondrial Complex Iv Deficiency, Nuclear Type 20	Hepatomegaly, Cardiomegaly	OMIM:619064
Hemochromatosis, Type 1	Hepatomegaly, Splenomegaly, Cardiomyopathy, Cardiomegaly	OMIM:235200
Pulmonary Non-Tuberculous Mycobacterial Infection	Pericardial effusion, Lymphadenopathy	ORPHA:411703
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Absent tonsils, Absence of lymph node germinal center	ORPHA:277
Heme Oxygenase 1 Deficiency	Asplenia, Hepatomegaly, Cervical lymphadenopathy, Lymphadenopathy	OMIM:614034
Lymphoproliferative Syndrome 2	Hepatomegaly, Splenomegaly, Lymphadenopathy, Hepatosplenomegaly	OMIM:615122
Mulibrey Nanism	Hepatomegaly, Myocardial fibrosis, Pericardial constriction, Cardiomegaly	OMIM:253250
Attrv122I Amyloidosis	Cardiomegaly, Hypertrophic cardiomyopathy, Aortic valve stenosis, Left ventricular hypertrophy, R...	ORPHA:85451
Carnitine Deficiency, Systemic Primary	Hepatomegaly, Cardiomegaly, Cardiomyopathy, Endocardial fibroelastosis, Hypertrophic cardiomyopathy	OMIM:212140
Griscelli Syndrome Type 2	Hepatomegaly, Splenomegaly, Lymphadenopathy	ORPHA:79477
Combined Oxidative Phosphorylation Deficiency 10	Pericardial effusion, Hypertrophic cardiomyopathy, Cardiomegaly	OMIM:614702
Cardiomyopathy, Familial Hypertrophic, 4	Ventricular hypertrophy, Hepatomegaly, Cardiomegaly, Pericardial effusion, Muscular ventricular s...	OMIM:115197
Klatskin Tumor	Hepatomegaly, Lymphadenopathy	ORPHA:99978
Tularemia	Abnormal nasopharyngeal adenoid morphology, Cervical lymphadenopathy, Mediastinal lymphadenopathy...	ORPHA:3392
Proteasome-Associated Autoinflammatory Syndrome 4	Hepatomegaly, Splenomegaly, Lymphadenopathy	OMIM:619183
Mitochondrial Complex Iv Deficiency, Nuclear Type 7	Ventricular hypertrophy, Hypertrophic cardiomyopathy, Cardiomegaly	OMIM:619051
Roifman Syndrome	Noncompaction cardiomyopathy, Lymphadenopathy, Hepatosplenomegaly	ORPHA:353298
Desmoplastic Small Round Cell Tumor	Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy	ORPHA:83469
Middle Ear Neuroendocrine Tumor	Chronic noninfectious lymphadenopathy	ORPHA:100084
Lymphoproliferative Syndrome 1	Hepatomegaly, Splenomegaly, Pericardial effusion, Lymphadenopathy	OMIM:613011
Coronary Arterial Fistula	Bicuspid aortic valve, Cardiomegaly, Abnormal heart morphology, Right ventricular dilatation, Bac...	ORPHA:2041
Heterotaxy, Visceral, 1, X-Linked	Cardiomegaly, Asplenia, Dextrotransposition of the great arteries, Atrial septal defect, Atrioven...	OMIM:306955
Deafness-Lymphedema-Leukemia Syndrome	Hepatomegaly, Splenomegaly, Bone marrow hypocellularity, Lymphadenopathy	ORPHA:3226
Cinca Syndrome	Lymphadenopathy, Hepatosplenomegaly	OMIM:607115
Leishmaniasis	Hepatomegaly, Splenomegaly, Lymphadenopathy	ORPHA:507
Autoimmune Lymphoproliferative Syndrome	Hepatomegaly, Splenomegaly, Chronic noninfectious lymphadenopathy, Follicular hyperplasia	OMIM:601859
Sézary Syndrome	Hepatomegaly, Splenomegaly, Lymphadenopathy	ORPHA:3162
Scrub Typhus	Myocarditis, Splenomegaly, Lymphadenopathy	ORPHA:83317
Idiopathic Pulmonary Hemosiderosis	Hepatomegaly, Cardiomegaly, Hepatosplenomegaly	ORPHA:99931
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Abnormality of the lymphatic system, Abnormal lymph node morphology	ORPHA:54251
Adult-Onset Still Disease	Hepatomegaly, Pericarditis, Generalized lymphadenopathy, Splenomegaly, Myocarditis, Bone marrow h...	ORPHA:829
Timothy Syndrome	Ventricular septal defect, Tetralogy of Fallot, Patent foramen ovale, Cardiomegaly	OMIM:601005
Cantu Syndrome	Pericardial effusion, Congenital hypertrophy of left ventricle, Bicuspid aortic valve, Cardiomegaly	OMIM:239850
Meige Disease	Lymph node hypoplasia, Absence of lymph node germinal center	ORPHA:90186
Combined Immunodeficiency Due To Zap70 Deficiency	Lymphadenitis, Abnormal lymph node morphology, Lymphadenopathy, Hepatosplenomegaly	ORPHA:911
Combined Oxidative Phosphorylation Deficiency 41	Cardiomegaly	OMIM:618838
Alpha-N-Acetylgalactosaminidase Deficiency	Cardiomegaly	ORPHA:3137
Isolated Right Ventricular Hypoplasia	Cardiomegaly, Muscular ventricular septal defect, Atrial septal defect, Patent foramen ovale, Rig...	ORPHA:439
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Splenomegaly, Lymphadenitis, Recurrent tonsillitis, Lymphadenopathy, Hepatosplenomegaly	OMIM:618935
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Lymph node hypoplasia, Absent tonsils, Hepatomegaly	ORPHA:276
Autoimmune Lymphoproliferative Syndrome, Type Iia	Hepatomegaly, Chronic noninfectious lymphadenopathy, Follicular hyperplasia, Splenomegaly, Lympha...	OMIM:603909
Sickle Cell Disease	Splenomegaly, Splenic infarction, Cardiomegaly, Hepatomegaly	OMIM:603903
Immunodeficiency 10	Lymphadenopathy	OMIM:612783
Lymphoproliferative Syndrome, X-Linked, 1	Hepatomegaly, Splenomegaly, Lymphadenopathy	OMIM:308240
Aorta Coarctation	Bicuspid aortic valve, Cardiomegaly, Aortic valve atresia, Perimembranous ventricular septal defe...	ORPHA:1457
Hypocomplementemic Urticarial Vasculitis	Hepatomegaly, Abnormal heart valve morphology, Pericardial effusion, Splenomegaly, Lymphadenopathy	ORPHA:36412
Nephroblastoma	Lymphadenopathy	ORPHA:654
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies	Lymphadenopathy, Hepatosplenomegaly	OMIM:619750
Griscelli Syndrome	Hepatomegaly, Splenomegaly, Bone marrow hypocellularity, Lymphadenopathy	ORPHA:381
Niemann-Pick Disease, Type A	Hepatomegaly, Splenomegaly, Lymphadenopathy	OMIM:257200
Histiocytosis-Lymphadenopathy Plus Syndrome	Hepatomegaly, Ventricular septal defect, Cardiomegaly, Splenomegaly, Cervical lymphadenopathy, Ly...	OMIM:602782
Acquired Hypertrichosis Lanuginosa	Lymphadenopathy	ORPHA:2221
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome	Aortic valve stenosis, Mitral valve prolapse, Abnormal atrioventricular valve morphology, Cardiom...	ORPHA:324410
Felty Syndrome	Hepatomegaly, Pericarditis, Splenomegaly, Lymphadenopathy, Bone marrow hypocellularity	ORPHA:47612
Rhabdoid Tumor	Lymphadenopathy	ORPHA:69077
Castleman Disease	Generalized lymphadenopathy, Follicular hyperplasia, Mediastinal lymphadenopathy, Lymphadenopathy...	ORPHA:160
Squamous Cell Carcinoma Of The Anal Canal	Lymphadenopathy	ORPHA:424019
Legionnaires Disease	Pericarditis, Myocarditis, Splenomegaly, Endocarditis, Lymphadenopathy, Bone marrow hypocellularity	ORPHA:549
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Hepatomegaly, Splenomegaly, Lymphadenopathy	OMIM:616100
Thyroid Lymphoma	Lymphadenopathy	ORPHA:97285
Papa Syndrome	Lymphadenopathy	ORPHA:69126
Immunodeficiency 91 And Hyperinflammation	Hepatomegaly, Lymphadenopathy, Hepatosplenomegaly	OMIM:619644
Immunodeficiency 98 With Autoinflammation, X-Linked	Hepatomegaly, Splenomegaly, Bone marrow hypocellularity, Lymphadenopathy	OMIM:301078
Gamma-Heavy Chain Disease	Hepatomegaly, Splenomegaly, Lymphadenopathy	ORPHA:100026
Refsum Disease, Classic	Cardiomyopathy, Cardiomegaly	OMIM:266500
Primary Myelofibrosis	Hepatomegaly, Splenomegaly, Lymphadenopathy, Hepatosplenomegaly	ORPHA:824
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Cardiomegaly	ORPHA:42
Omenn Syndrome	Hepatomegaly, Splenomegaly, Hypoplasia of the thymus, Lymphadenopathy	OMIM:603554
Boutonneuse Fever	Cervical lymphadenopathy, Lymphadenopathy	ORPHA:83313
Carnitine Palmitoyltransferase I Deficiency	Hepatomegaly, Cardiomegaly	OMIM:255120
Lethal Congenital Contracture Syndrome 10	Ventricular septal defect, Overriding aorta, Hypoplasia of the thymus, Cardiomegaly	OMIM:617022
Diffuse Cutaneous Mastocytosis	Hepatomegaly, Abnormality of the spleen, Lymphadenopathy	ORPHA:79456
Cutaneous Mastocytoma	Lymphadenopathy	ORPHA:79455
Purine Nucleoside Phosphorylase Deficiency	Splenomegaly, Lymph node hypoplasia	OMIM:613179
Mixed Connective Tissue Disease	Hepatomegaly, Pericarditis, Splenomegaly, Mediastinal lymphadenopathy, Myocarditis, Lymphadenopathy	ORPHA:809
Omenn Syndrome	Hepatomegaly, Splenomegaly, Lymphadenopathy	ORPHA:39041
Combined Oxidative Phosphorylation Deficiency 33	Left ventricular hypertrophy, Hepatomegaly, Cardiomyopathy, Cardiomegaly	OMIM:617713
Combined Immunodeficiency Due To Crac Channel Dysfunction	Hepatomegaly, Splenomegaly, Lymphadenopathy	ORPHA:169090
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Hepatomegaly, Splenomegaly, Lymphadenitis, Dilated cardiomyopathy, Lymphadenopathy, Cardiomyopathy	OMIM:615895
Hsd10 Disease, Infantile Type	Hypertrophic cardiomyopathy, Cardiomegaly	ORPHA:391428
Neuroendocrine Tumor Of The Colon	Hepatomegaly, Chronic noninfectious lymphadenopathy, Abnormal pulmonary valve cusp morphology	ORPHA:100080
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Hepatomegaly, Hypertrophic cardiomyopathy, Cardiomegaly	OMIM:201475
Arterial Calcification, Generalized, Of Infancy, 2	Right atrial enlargement, Cardiomegaly	OMIM:614473
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Hypertrophic cardiomyopathy, Ventricular septal defect, Cardiomegaly	OMIM:616897
Sandhoff Disease	Hepatomegaly, Cardiomegaly, Hepatosplenomegaly	OMIM:268800
Melkersson-Rosenthal Syndrome	Lymphadenopathy	ORPHA:2483
Symptomatic Form Of Hfe-Related Hemochromatosis	Hepatomegaly, Splenomegaly, Cardiomyopathy, Cardiomegaly	ORPHA:465508
Cinca Syndrome	Hepatomegaly, Splenomegaly, Lymphadenopathy	ORPHA:1451
Double Outlet Left Ventricle	Double outlet left ventricle, Ventricular septal defect, Cardiomegaly, Bicuspid pulmonary valve, ...	ORPHA:3427
Immunodeficiency 97 With Autoinflammation	Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Hepatosplenomegaly	OMIM:619802
Cyclic Neutropenia	Cervical lymphadenopathy, Recurrent tonsillitis, Lymphadenopathy	ORPHA:2686
Medullary Thyroid Carcinoma	Lymphadenopathy	ORPHA:1332
Beck-Fahrner Syndrome	Ventricular septal defect, Cardiomegaly	OMIM:618798
Proteasome-Associated Autoinflammatory Syndrome 2	Lymphadenopathy	OMIM:618048
Hyperimmunoglobulinemia D With Periodic Fever	Hepatomegaly, Lymphadenopathy	ORPHA:343
Hereditary Amyloidosis With Primary Renal Involvement	Hepatomegaly, Abnormal lymph node morphology, Lymphadenopathy, Hepatosplenomegaly	ORPHA:85450
Craniofaciofrontodigital Syndrome	Bicuspid aortic valve, Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, ...	ORPHA:363705
Pulmonary Capillary Hemangiomatosis	Pericardial effusion, Mediastinal lymphadenopathy, Lymphadenopathy	ORPHA:199241
Aggressive Systemic Mastocytosis	Hypersplenism, Lymphadenopathy, Hepatosplenomegaly	ORPHA:98850
Q Fever	Hepatomegaly, Pericarditis, Abnormal heart valve morphology, Pericardial effusion, Splenomegaly, ...	ORPHA:781
Anaplastic Thyroid Carcinoma	Lymphadenopathy	ORPHA:142
Tangier Disease	Orange discolored tonsils, Chronic noninfectious lymphadenopathy, Hepatosplenomegaly, Left ventri...	ORPHA:31150
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Cardiomegaly	OMIM:613320
Acute Interstitial Pneumonia	Pericardial effusion, Lymphadenopathy	ORPHA:79126
Cirrhotic Cardiomyopathy	Hepatomegaly, Left atrial enlargement, Cardiomegaly, Left ventricular hypertrophy, Right atrial e...	ORPHA:57777
Macrophage Activation Syndrome	Hepatomegaly, Splenomegaly, Lymphadenopathy	ORPHA:158061
Mogs-Cdg	Hepatomegaly, Cardiomegaly, Hepatosplenomegaly, Atrial septal defect, Left ventricular hypertrophy	ORPHA:79330
Complete Atrioventricular Septal Defect	Hepatomegaly, Cardiomegaly, Complete atrioventricular canal defect, Primum atrial septal defect, ...	ORPHA:1329
Danon Disease	Myocardial necrosis, Cardiomegaly, Dilated cardiomyopathy, Myocardial fibrosis, Hypertrophic card...	OMIM:300257
Familial Aortic Dissection	Cardiomegaly	ORPHA:229
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Absent peripheral lymph nodes in presence of infection	ORPHA:98813
Pancreatoblastoma	Abnormal lymph node morphology	ORPHA:677
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Lymphadenopathy, Hepatosplenomegaly	ORPHA:169154
Neuroendocrine Tumor Of The Rectum	Hepatomegaly, Chronic noninfectious lymphadenopathy, Abnormal pulmonary valve cusp morphology	ORPHA:100081
Neuroendocrine Tumor Of Anal Canal	Hepatomegaly, Chronic noninfectious lymphadenopathy, Abnormal pulmonary valve cusp morphology	ORPHA:100082
Thymic Neuroendocrine Tumor	Neoplasm of the thymus, Mediastinal lymphadenopathy, Chronic noninfectious lymphadenopathy	ORPHA:97289
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Hepatomegaly, Splenomegaly, Lymphadenopathy	ORPHA:436159
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Splenomegaly, Lymphadenitis, Hepatomegaly, Lymphadenopathy	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Splenomegaly, Lymphadenitis, Hepatomegaly, Lymphadenopathy	OMIM:233710
Periodic Fever, Familial, Autosomal Dominant	Hepatomegaly, Cervical lymphadenopathy	OMIM:142680
Immunodeficiency With Hyper-Igm, Type 1	Hepatomegaly, Splenomegaly, Enlarged tonsils, Absence of lymph node germinal center	OMIM:308230
Gaucher Disease, Perinatal Lethal	Hepatomegaly, Splenomegaly, Cardiomegaly, Hepatosplenomegaly	OMIM:608013
Lig4 Syndrome	Hepatomegaly, Lymphadenopathy	ORPHA:99812
Truncus Arteriosus	Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, Abnormal heart morpholo...	ORPHA:3384
Drug Reaction With Eosinophilia And Systemic Symptoms	Myocarditis, Lymphadenopathy	ORPHA:139402
Naxos Disease	Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Cardiomega...	OMIM:601214
Agammaglobulinemia, X-Linked	Lymph node hypoplasia, Cor pulmonale	OMIM:300755
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Splenomegaly, Lymphadenitis, Hepatomegaly, Lymphadenopathy	OMIM:233690
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome	Abnormal thymus morphology, Cardiomegaly	ORPHA:2463
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Enlarged tonsils, Lymphadenopathy, Hepatosplenomegaly	OMIM:606367
Familial Hemophagocytic Lymphohistiocytosis	Hepatomegaly, Splenomegaly, Lymphadenopathy	ORPHA:540
Proteasome-Associated Autoinflammatory Syndrome 3	Hepatomegaly, Splenomegaly, Lymphadenopathy	OMIM:617591
Bronchial Neuroendocrine Tumor	Hepatomegaly, Chronic noninfectious lymphadenopathy, Abnormal pulmonary valve cusp morphology	ORPHA:97287
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Hepatomegaly, Mediastinal lymphadenopathy, Mitral valve prolapse, Hilar lymph node enlargement, R...	OMIM:620233
Amyloidosis, Hereditary, Transthyretin-Related	Cardiomyopathy, Cardiomegaly	OMIM:105210
Fucosidosis	Hepatomegaly, Cardiomegaly	ORPHA:349
Mevalonic Aciduria	Fluctuating hepatomegaly, Fluctuating splenomegaly, Lymphadenopathy, Hepatosplenomegaly	OMIM:610377
Joint Contractures, Osteochondromas, And B-Cell Lymphoma	Generalized lymphadenopathy	OMIM:620232
Glycogen Storage Disease Ii	Hepatomegaly, Splenomegaly, Cardiomegaly	OMIM:232300
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Lymphadenitis, Generalized lymphadenopathy, Hepatosplenomegaly	OMIM:618986
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hepatomegaly, Splenomegaly, Lymphadenopathy	OMIM:267700
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Bicuspid aortic valve, Ventricular septal defect, Partial atrioventricular canal defect, Cardiome...	OMIM:620066
Kikuchi-Fujimoto Disease	Hepatomegaly, Generalized lymphadenopathy, Splenomegaly, Cervical lymphadenopathy, Myocarditis, A...	ORPHA:50918
Cantú Syndrome	Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Cardiomegaly	ORPHA:1517
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hepatomegaly, Splenomegaly, Lymphadenopathy, Hepatosplenomegaly	OMIM:603553
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy	Cardiomyopathy, Cardiomegaly	OMIM:619259
Immunodeficiency, Common Variable, 8, With Autoimmunity	Splenomegaly, Generalized lymphadenopathy, Lymphadenopathy	OMIM:614700
Pediatric Systemic Lupus Erythematosus	Pericardial effusion, Lymphadenopathy	ORPHA:93552
Hyper-Igd Syndrome	Splenomegaly, Lymphadenitis, Lymphadenopathy, Hepatosplenomegaly	OMIM:260920
Glycogen Storage Disease Of Heart, Lethal Congenital	Cardiomegaly, Pericardial effusion, Increased myocardial glycogen content, Biventricular hypertro...	OMIM:261740
Cutaneous Neuroendocrine Carcinoma	Chronic noninfectious lymphadenopathy	ORPHA:79140
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Hepatomegaly, Dilated cardiomyopathy, Enlarged kidney, Cardiomegaly	OMIM:608836
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Left ventricular hypertrophy, Hepatomegaly, Hypertrophic cardiomyopathy, Cardiomegaly	ORPHA:308552
Poems Syndrome	Pericardial effusion, Visceromegaly, Lymphadenopathy	ORPHA:2905
Congenital Disorder Of Glycosylation, Type It	Hepatomegaly, Dilated cardiomyopathy, Ventricular septal defect, Cardiomegaly	OMIM:614921
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Lymphadenopathy	OMIM:304790
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Bicuspid aortic valve, Cardiomegaly, Mitral valve prolapse, Atrial septal defect, Left ventricula...	OMIM:245600
Fucosidosis	Hepatomegaly, Splenomegaly, Cardiomegaly	OMIM:230000
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Accessory spleen, Hepatomegaly, Ventricular septal defect, Splenomegaly, Lymphadenopathy, Polyspl...	OMIM:619418
Arterial Calcification, Generalized, Of Infancy, 1	Dilated cardiomyopathy, Cardiomegaly	OMIM:208000
Lethal Acantholytic Erosive Disorder	Cardiomyopathy, Cardiomegaly	ORPHA:158687
Aregenerative Anemia	Bone marrow hypocellularity, Lymphadenopathy	ORPHA:101096
Mucopolysaccharidosis Type 3	Hepatomegaly, Cardiomegaly, Adenoiditis, Splenomegaly, Recurrent tonsillitis, Abnormal aortic val...	ORPHA:581
Malt Lymphoma	Mediastinal lymphadenopathy, Lymphadenopathy	ORPHA:52417
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Hepatomegaly, Absence of lymph node germinal center, Hepatosplenomegaly	ORPHA:79124
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Abnormal myocardium morphology, Splenomegaly, Pericarditis, Lymphadenopathy	ORPHA:32960
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Abnormal myocardium morphology, Hepatomegaly, Cardiomyopathy, Cardiomegaly	ORPHA:228308
Waldenström Macroglobulinemia	Hepatomegaly, Splenomegaly, Lymphadenopathy	ORPHA:33226
Graft Versus Host Disease	Lymphadenopathy, Hepatosplenomegaly	ORPHA:39812
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2	Right ventricular hypertrophy, Cardiomegaly	ORPHA:268
Neurodegeneration And Seizures Due To Copper Transport Defect	Cardiomegaly	OMIM:620306
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Lymphadenopathy	OMIM:617099
Chediak-Higashi Syndrome	Hepatomegaly, Splenomegaly, Lymphadenopathy	OMIM:214500
Absence Of The Pulmonary Artery	Cardiomegaly, Abnormal heart morphology, Abnormal cardiac septum morphology, Atrial septal defect...	ORPHA:980
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Ventricular hypertrophy, Hepatomegaly, Cardiomegaly, Hepatosplenomegaly	OMIM:618278
Developmental And Epileptic Encephalopathy 95	Hepatomegaly, Cardiomegaly	OMIM:618143
Congenital Tracheomalacia	Ventricular septal defect, Cardiomegaly, Partial anomalous pulmonary venous return, Abnormal hear...	ORPHA:95430
Granulomatous Disease, Chronic, X-Linked	Splenomegaly, Lymphadenitis, Hepatomegaly, Lymphadenopathy	OMIM:306400
Farber Disease	Lymphadenopathy, Hepatosplenomegaly	ORPHA:333
Acute Promyelocytic Leukemia	Lymphadenopathy	ORPHA:520
Carney Triad	Mediastinal lymphadenopathy, Lymphadenopathy	ORPHA:139411
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Hepatomegaly, Splenomegaly, Dilated cardiomyopathy, Lymphadenopathy, Hepatosplenomegaly, Bone mar...	OMIM:615688
Neuroendocrine Tumor Of Stomach	Hepatomegaly, Chronic noninfectious lymphadenopathy, Abnormal pulmonary valve cusp morphology	ORPHA:100075
Systemic Mastocytosis With Associated Hematologic Neoplasm	Hepatomegaly, Splenomegaly, Lymphadenopathy	ORPHA:98849
Lymphatic Filariasis	Lymphadenitis, Abnormality of the lymphatic system, Lymphangiectasis, Lymphadenopathy	ORPHA:2035
Familial Pancreatic Carcinoma	Lymphadenopathy, Hepatosplenomegaly	ORPHA:1333
Familial Idiopathic Dilatation Of The Right Atrium	Hepatomegaly, Cardiomegaly, Right ventricular hypertrophy, Atrial septal dilatation, Right atrial...	ORPHA:1677
Hennekam Syndrome	Pericardial effusion, Splenomegaly, Pulmonary lymphangiectasia, Lymphadenopathy, Lymphangioma	ORPHA:2136
Mucolipidosis Ii Alpha/Beta	Hepatomegaly, Cardiomegaly, Splenomegaly, Hypertrophic cardiomyopathy, Enlarged kidney	OMIM:252500
Lymphangioleiomyomatosis	Pulmonary lymphangiomyomatosis, Abnormality of the lymphatic system, Chylopericardium, Lymphadeno...	ORPHA:538
H Syndrome	Lymphadenopathy, Enlarged kidney, Hepatosplenomegaly	ORPHA:168569
Ileal Neuroendocrine Tumor	Tricuspid stenosis, Pulmonic stenosis, Lymphadenopathy	ORPHA:100078
Common Variable Immunodeficiency	Splenomegaly, Lymphadenopathy	ORPHA:1572
Acute Generalized Exanthematous Pustulosis	Lymphadenopathy	ORPHA:293173
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Cervical lymphadenopathy, Lymphadenopathy	OMIM:617718
Immunodeficiency 55	Lymphadenopathy	OMIM:617827
Multiple Myeloma	Splenomegaly, Lymphadenopathy	ORPHA:29073
Immunodeficiency 31C	Hepatomegaly, Splenomegaly, Lymphadenopathy	OMIM:614162
Autosomal Recessive Malignant Osteopetrosis	Hepatomegaly, Splenomegaly, Abnormal pulmonary valve morphology, Lymphadenopathy	ORPHA:667
T-Cell Immunodeficiency With Thymic Aplasia	Aplasia of the thymus, Lymphadenopathy	ORPHA:83471
Familial Mediterranean Fever	Splenomegaly, Pericarditis, Lymphadenopathy	ORPHA:342
Congenital Total Pulmonary Venous Return Anomaly	Hepatomegaly, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Mitral atresia, Ca...	ORPHA:99125
Tropical Endomyocardial Fibrosis	Hepatomegaly, Right ventricular cardiomyopathy, Left atrial enlargement, Cardiomegaly, Splenomega...	ORPHA:75565
Brucellosis	Hepatomegaly, Pericarditis, Hypersplenism, Splenomegaly, Myocarditis, Endocarditis, Lymphadenopat...	ORPHA:1304
Chédiak-Higashi Syndrome	Pericardial effusion, Splenomegaly, Lymphadenopathy, Hepatosplenomegaly	ORPHA:167
Kawasaki Disease	Pericarditis, Abnormal heart valve morphology, Myocarditis, Cervical lymphadenopathy, Double outl...	ORPHA:2331
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Cardiomegaly, Left vent...	OMIM:300967
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Absent peripheral lymph nodes in presence of infection	OMIM:600802
Cherubism	Submandibular lymph node enlargement	OMIM:118400
Autoimmune Lymphoproliferative Syndrome	Hepatomegaly, Chronic noninfectious lymphadenopathy, Hypersplenism, Splenomegaly, Lymphadenopathy...	ORPHA:3261
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis	Lymphadenopathy, Hepatosplenomegaly	ORPHA:85408
Behçet Disease	Pericarditis, Splenomegaly, Endocarditis, Lymphadenopathy, Abnormal myocardium morphology	ORPHA:117
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Splenomegaly, Lymphadenopathy	ORPHA:37042
Ogden Syndrome	Bicuspid aortic valve, Left atrial enlargement, Ventricular septal defect, Cardiomegaly, Secundum...	OMIM:300855
Adenocarcinoma Of The Anal Canal	Lymphadenopathy	ORPHA:424016
Coccidioidomycosis	Abnormality of the spleen, Pericarditis, Mediastinal lymphadenopathy, Lymphadenopathy	ORPHA:228123
Selective Igm Deficiency	Lymphadenitis, Lymphadenopathy	ORPHA:331235
Alpha-N-Acetylgalactosaminidase Deficiency Type 2	Cardiomegaly	ORPHA:79280
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Bicuspid aortic valve, Cardiomegaly	ORPHA:91387
Paternal Uniparental Disomy Of Chromosome 6	Hepatomegaly, Ventricular septal defect, Cardiomegaly	ORPHA:96191
Spondyloenchondrodysplasia With Immune Dysregulation	Lymphadenopathy	OMIM:607944
Histiocytoid Cardiomyopathy	Hepatomegaly, Ventricular septal defect, Cardiomegaly	ORPHA:137675
Proteasome-Associated Autoinflammatory Syndrome 1	Hepatomegaly, Splenomegaly, Cardiomegaly, Lymphadenopathy	OMIM:256040
Neuroendocrine Neoplasm Of Appendix	Hepatomegaly, Tricuspid stenosis, Chronic noninfectious lymphadenopathy	ORPHA:100079
Glycogen Storage Disease Due To Acid Maltase Deficiency	Left ventricular hypertrophy, Hepatomegaly, Hypertrophic cardiomyopathy, Cardiomegaly	ORPHA:365
Bohring-Opitz Syndrome	Abnormal cardiac septum morphology, Cardiomegaly	ORPHA:97297
Aicardi-Goutières Syndrome	Hypertrophic cardiomyopathy, Cardiomegaly, Hepatosplenomegaly	ORPHA:51
Abetalipoproteinemia	Hepatomegaly, Cardiomegaly	ORPHA:14
Gallbladder Neuroendocrine Tumor	Chronic noninfectious lymphadenopathy	ORPHA:100086
Beckwith-Wiedemann Syndrome	Hepatomegaly, Cardiomegaly, Pancreatic hyperplasia, Cardiomyopathy, Enlarged kidney	OMIM:130650
Sarcoidosis, Susceptibility To, 1	Hepatomegaly, Generalized lymphadenopathy, Pericardial effusion, Splenomegaly, Mediastinal lympha...	OMIM:181000
Beckwith-Wiedemann Syndrome	Hepatomegaly, Cardiomegaly, Splenomegaly, Hypertrophic cardiomyopathy, Visceromegaly, Enlarged ki...	ORPHA:116
Liver Disease, Severe Congenital	Hepatomegaly, Ventricular septal defect, Left atrial enlargement, Cardiomegaly, Splenomegaly, Dil...	OMIM:619991
Chikungunya	Cervical lymphadenopathy, Lymphadenopathy	ORPHA:324625
Crimean-Congo Hemorrhagic Fever	Hepatomegaly, Pericardial effusion, Splenomegaly, Myocarditis, Lymphadenopathy	ORPHA:99827
Igg4-Related Kidney Disease	Lymphadenitis, Pericarditis, Enlarged kidney, Lymphadenopathy	ORPHA:449395
Yunis-Varon Syndrome	Ventricular septal defect, Cardiomegaly, Cardiomyopathy, Atrial septal defect, Tetralogy of Fallot	ORPHA:3472
Blau Syndrome	Splenomegaly, Pericarditis, Lymphadenopathy	ORPHA:90340
Williams Syndrome	Abnormal endocardium morphology, Overriding aorta, Bicuspid aortic valve, Ventricular septal defe...	ORPHA:904
Igg4-Related Submandibular Gland Disease	Lymphadenopathy	ORPHA:449432
Leptospirosis	Hepatomegaly, Pericarditis, Lymphadenopathy	ORPHA:509
Sarcoidosis	Hepatomegaly, Abnormal lymph node morphology, Lymphadenopathy	ORPHA:797
Immunodeficiency 82 With Systemic Inflammation	Splenomegaly, Follicular hyperplasia, Lymphadenopathy	OMIM:619381
African Trypanosomiasis	Hepatomegaly, Pericarditis, Splenomegaly, Myocarditis, Hepatosplenomegaly, Lymphadenopathy	ORPHA:3385
Marburg Hemorrhagic Fever	Pericarditis, Lymphadenopathy	ORPHA:99826
Systemic Lupus Erythematosus	Lymphadenopathy	ORPHA:536
Igg4-Related Dacryoadenitis And Sialadenitis	Lymphadenopathy	ORPHA:79078
Igg4-Related Ophthalmic Disease	Lymphadenopathy	ORPHA:449563
Primary Sjögren Syndrome	Lymphadenopathy	ORPHA:289390
Singleton-Merten Syndrome 1	Mitral valve calcification, Cardiomegaly, Aortic valve calcification, Subvalvular aortic stenosis...	OMIM:182250
Cushing Syndrome Due To Ectopic Acth Secretion	Neoplasm of the thymus, Abnormal lymph node morphology	ORPHA:99889
Generalized Arterial Calcification Of Infancy	Pericardial effusion, Ventricular hypertrophy, Myocardial calcification, Cardiomegaly	ORPHA:51608

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 Armcx1

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 Armcx1.

No publications found that use IMPC mice or data for Armcx1.

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MGI Allele	Allele Type	Produced
Armcx1^{tm429068(L1L2_Bact_P)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
Armcx1^em1(IMPC)Mbp	Whole-gene deletion	Mice, Tissue
Armcx1^tm1(KOMP)Mbp	Reporter-tagged deletion allele (with selection cassette)	Targeting vectors, ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Armcx1 MGI:1925498

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

X-ray

Human diseases caused by Armcx1 mutations

Histopathology

IMPC related publications

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Access Data Release 20.1 Data