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Gene: Nnat MGI:104716

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Gene Summary

Name:
neuronatin
Synonyms:
5730414I02Rik,  Peg5

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
enlarged lymph nodes Nnatem1(IMPC)Mbp HOM Early adult 0.00
abnormal lymph node morphology Nnatem1(IMPC)Mbp HOM Early adult 0.00
abnormal bone structure Nnatem1(IMPC)Mbp HOM   Early adult 2.96×10-06
enlarged heart Nnatem1(IMPC)Mbp HOM Early adult 0.00
decreased bone mineral content Nnatem1(IMPC)Mbp HOM Early adult 6.05×10-05

Download data as:  TSV  XLS

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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 Lateral Orientation

11 Images

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X-ray

XRay Images Whole Body Dorso Ventral

33 Images

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Human diseases caused by Nnat 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 Nnat by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemic seizures, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancreatic ... OMIM:610021
Hyperinsulinemic Hypoglycemia, Familial, 2
Nesidioblastosis, Hypoglycemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia OMIM:601820
Hyperinsulinemic Hypoglycemia, Familial, 1
Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia OMIM:256450
Hyperinsulinemic Hypoglycemia, Familial, 5
Hypoglycemic seizures, Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Elevated circulat... OMIM:609968
Hyperinsulinemic Hypoglycemia, Familial, 3
Hypoglycemic seizures, Diabetes mellitus, Hyperinsulinemic hypoglycemia OMIM:602485
Insulinomatosis And Diabetes Mellitus
Impaired glucose tolerance, Insulinoma, Type II diabetes mellitus, Hyperinsulinemic hypoglycemia,... OMIM:147630
Hyperinsulinemic Hypoglycemia, Familial, 6
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Abnormality of the pancreatic islet cells OMIM:606762
Hepatic Venoocclusive Disease With Immunodeficiency
Absence of lymph node germinal center, Endocardial fibrosis OMIM:235550
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
Hyperinsulinemic Hypoglycemia, Familial, 4
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:609975
Immunodeficiency 38 With Basal Ganglia Calcification
Lymphadenopathy, Axillary lymphadenopathy, Inguinal lymphadenopathy OMIM:616126
Hyperinsulinism Due To Insr Deficiency
Hyperinsulinemic hypoglycemia, Hypoglycemia, Recurrent hypoglycemia, Insulin resistance, Fasting ... ORPHA:263458
Hyperproinsulinemia
Hyperinsulinemia, Hyperglycemia OMIM:616214
Congenital Glucokinase-Related Hyperinsulinism
Hypoketotic hypoglycemia, Type II diabetes mellitus, Recurrent hypoglycemia, Hyperinsulinemic hyp... ORPHA:79299
Familial Partial Lipodystrophy, Köbberling Type
Hyperinsulinemia, Pancreatitis, Hepatomegaly, Insulin resistance, Polycystic ovaries, Diabetes me... ORPHA:79084
Squamous Cell Carcinoma Of The Esophagus
Lymphadenopathy ORPHA:99977
Reticuloendotheliosis, X-Linked
Hepatosplenomegaly, Lymphadenopathy OMIM:312500
Ethanolaminosis
Cardiomegaly OMIM:227150
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Hypoglycemic seizures, Neonatal hypoglycemia, Hypoketotic hypoglycemia, Increased hepatic glycoge... ORPHA:293964
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Hyperinsulinemia, Hypoketotic hypoglycemia, Fasting hypoglycemia, Hyperhidrosis, Hyperinsulinemic... ORPHA:276608
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hypoglycemic seizures, Hyperinsulinemia, Episodic hyperhidrosis, Maternal diabetes, Hypoketotic h... ORPHA:276580
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hypoglycemic seizures, Hyperinsulinemia, Episodic hyperhidrosis, Diffuse pancreatic islet hyperpl... ORPHA:276575
Pulmonary Nodular Lymphoid Hyperplasia
Mediastinal lymphadenopathy, Follicular hyperplasia ORPHA:60026
Mantle Cell Lymphoma
Splenomegaly, Lymphadenopathy ORPHA:52416
Insulin Autoimmune Syndrome
Hyperinsulinemic hypoglycemia, Fasting hypoglycemia, Nonketotic hypoglycemia, Insulin resistance,... ORPHA:411593
Hyperinsulinism Due To Hnf1A Deficiency
Hypoglycemic seizures, Neonatal hypoglycemia, Hyperinsulinemia, Episodic hyperhidrosis, Maturity-... ORPHA:324575
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Neonatal hypoglycemia, Diffuse pancreatic islet hyperplasia, Abnormal response to glucagon stimul... ORPHA:79644
Hypoglycemia, Leucine-Induced
Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:240800
Immunodeficiency 75 With Lymphoproliferation
Follicular hyperplasia, Hepatosplenomegaly, Lymphadenopathy OMIM:619126
Obesity And Hypopigmentation
Hyperinsulinemia, Hepatic steatosis OMIM:620195
Obesity Due To Prohormone Convertase I Deficiency
Delayed puberty, Hypoglycemic seizures, Decreased response to growth hormone stimulation test, Hy... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Delayed puberty, Hypoglycemic seizures, Decreased response to growth hormone stimulation test, Hy... ORPHA:71526
Diabetes Mellitus, Ketosis-Prone
Insulin resistance, Diabetes mellitus, Beta-cell dysfunction OMIM:612227
Mu-Heavy Chain Disease
Hepatomegaly, Lymphadenopathy, Osteoporosis, Splenomegaly, Osteolysis ORPHA:100024
Hyperinsulinism-Hyperammonemia Syndrome
Hyperinsulinemic hypoglycemia, Fasting hyperinsulinemia, Reactive hypoglycemia ORPHA:35878
Plin1-Related Familial Partial Lipodystrophy
Hyperinsulinemia, Abnormal circulating hormone concentration, Hepatic fibrosis, Hepatic steatosis... ORPHA:280356
Insulinoma
Hyperinsulinemia, Neoplasm of the adrenal gland, Primary hyperparathyroidism, Pituitary prolactin... ORPHA:97279
Kerion Celsi
Lymphadenopathy ORPHA:499
Homozygous 11P15-P14 Deletion Syndrome
Hypoglycemia, Hyperinsulinemia OMIM:606528
Bdv Syndrome
Delayed puberty, Hyperinsulinemia, Decreased thyroid-stimulating hormone level, Reduced TSH respo... OMIM:619326
Hyperinsulinism Due To Ucp2 Deficiency
Hypoglycemic seizures, Hepatomegaly, Episodic hyperhidrosis, Diffuse pancreatic islet hyperplasia... ORPHA:276556
Hyperinsulinemic Hypoglycemia, Familial, 8
Elevated circulating thyroid-stimulating hormone concentration, Hypoglycemic seizures, Hyperinsul... OMIM:620211
Mody
Hepatocellular adenoma, Neonatal hypoglycemia, Hypoinsulinemia, Pancreatic hypoplasia, Abnormal c... ORPHA:552
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Hyperinsulinemia ORPHA:329249
Bangstad Syndrome
Hyperinsulinemia, Abnormal testis morphology, Hypothyroidism, Primary gonadal insufficiency, Abno... ORPHA:1227
Adenocarcinoma Of The Esophagus
Lymphadenopathy ORPHA:99976
Body Mass Index Quantitative Trait Locus 20
Hyperinsulinemia OMIM:618406
Autoinflammation With Episodic Fever And Lymphadenopathy
Splenomegaly, Hepatomegaly, Lymphadenopathy, Recurrent tonsillitis OMIM:618852
Estrogen Resistance
Delayed puberty, Increased circulating osteocalcin level, Hyperinsulinemia, Breast aplasia, Impai... OMIM:615363
Rosaï-Dorfman Disease
Lymphadenopathy, Osteolysis ORPHA:158014
Immunodeficiency 104
Splenomegaly, Hepatomegaly, Lymphadenopathy OMIM:608971
Obesity Due To Melanocortin 4 Receptor Deficiency
Hyperinsulinemia, Type II diabetes mellitus ORPHA:71529
Obesity Due To Congenital Leptin Deficiency
Absence of secondary sex characteristics, Hyperinsulinemia, Hypoplasia of the ovary, Decreased se... ORPHA:66628
Lipodystrophy, Familial Partial, Type 3
Cirrhosis, Hyperinsulinemia, Maternal diabetes, Hyperglycemia, Type II diabetes mellitus, Insulin... OMIM:604367
Perlman Syndrome
Cryptorchidism, Hyperinsulinemia, Abnormal pancreas morphology, Hepatomegaly ORPHA:2849
Mast Cell Sarcoma
Splenomegaly, Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:66661
Obesity Due To Leptin Receptor Gene Deficiency
Absence of secondary sex characteristics, Hyperinsulinemia, Hypoplasia of the ovary, Decreased se... ORPHA:179494
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Delayed puberty, Hyperinsulinemic hypoglycemia, Diabetes mellitus, Delayed thelarche OMIM:616033
Short Fifth Metacarpals-Insulin Resistance Syndrome
Hyperinsulinemia, Splenomegaly ORPHA:66518
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Hyperinsulinemia, Fasting hypoglycemia, Precocious puberty, Hyperglycemia, Diabetic ketoacidosis,... OMIM:262190
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly, Craniosynostosis ORPHA:88643
Cardiomyopathy, Dilated, 1I
Cardiomegaly, Dilated cardiomyopathy OMIM:604765
Kimura Disease
Follicular hyperplasia, Lymphadenopathy ORPHA:482
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Neonatal hypoglycemia, Hyperinsulinemia, Hepatomegaly, Hypoketotic hypoglycemia, Increased hepati... ORPHA:263455
Obesity Due To Sim1 Deficiency
Hyperinsulinemia, Glucose intolerance ORPHA:369873
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hyperinsulinemia, Hypergonadotropic hypogonadism, Decreased testicular size, Type II diabetes mel... ORPHA:3085
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Neonatal hypoglycemia, Hypoinsulinemia, Hypoglycemia, Fasting hypoglycemia OMIM:240900
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Splenomegaly, Hepatomegaly, Lymphadenopathy ORPHA:86893
Body Mass Index Quantitative Trait Locus 19
Increased serum leptin, Insulin resistance, Hyperinsulinemia OMIM:617885
Leukocyte Adhesion Deficiency, Type Iii
Osteopetrosis, Hepatomegaly, Abnormal lymph node morphology, Hepatosplenomegaly, Splenomegaly OMIM:612840
Transient Neonatal Diabetes Mellitus
Maturity-onset diabetes of the young, Maternal diabetes, Hypoinsulinemia, Hypothyroidism, Hypergl... ORPHA:99886
Classic Hodgkin Lymphoma
Hepatomegaly, Lymphadenopathy, Bone marrow hypocellularity, Splenomegaly, Osteolysis ORPHA:391
Multiple Endocrine Neoplasia Type 4
Abnormality of the endocrine system, Pituitary growth hormone cell adenoma, Pituitary corticotrop... ORPHA:276152
Deafness, Autosomal Dominant 34, With Or Without Inflammation
Lymphadenopathy OMIM:617772
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Splenomegaly, Lymphadenopathy ORPHA:444463
Lymphoproliferative Syndrome 3
Hepatosplenomegaly, Lymphadenopathy OMIM:618261
Follicular Lymphoma
Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:545
Schnitzler Syndrome
Increased bone mineral density, Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:37748
Immunodeficiency 32A
Lymphadenitis, Lymphadenopathy OMIM:614893
Indolent Systemic Mastocytosis
Splenomegaly, Hepatomegaly, Lymphadenopathy, Osteoporosis ORPHA:98848
Donohue Syndrome
Hyperinsulinemia, Fasting hypoglycemia, Cholestasis, Precocious puberty, Hyperglycemia, Ovarian c... OMIM:246200
Severe Neurodegenerative Syndrome With Lipodystrophy
Cirrhosis, Hyperinsulinemia, Hepatomegaly, Insulin resistance, Hepatic steatosis ORPHA:363400
Estrogen Resistance Syndrome
Absence of secondary sex characteristics, Breast hypoplasia, Hyperinsulinemia, Abnormal circulati... ORPHA:785
Alpha-Heavy Chain Disease
Splenomegaly, Hepatomegaly, Lymphadenopathy ORPHA:100025
X-Linked Acrogigantism
Delayed puberty, Enlarged pituitary gland, Decreased thyroid-stimulating hormone level, Increased... ORPHA:300373
Insulin-Resistance Syndrome Type B
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Increased serum testosterone level, Fasting hypo... ORPHA:2298
Infantile Sialic Acid Storage Disease
Osteopenia, Hepatomegaly, Splenomegaly, Cardiomegaly OMIM:269920
Mpi-Cdg
Hepatomegaly, Portal hypertension, Hypothyroidism, Hyperinsulinemic hypoglycemia, Hepatic fibrosis ORPHA:79319
Short Stature, Dauber-Argente Type
Fasting hyperinsulinemia OMIM:619489
Polyendocrine-Polyneuropathy Syndrome
Decreased circulating follicle stimulating hormone concentration, Decreased circulating luteinizi... ORPHA:453533
Congenital Toxoplasmosis
Cardiomegaly, Hepatomegaly, Lymphadenopathy ORPHA:858
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Splenomegaly, Lymphadenopathy OMIM:615513
Fish-Eye Disease
Splenomegaly, Hepatomegaly, Lymphadenopathy ORPHA:79292
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Fluctuating splenomegaly, Lymphadenopathy OMIM:619220
Immunodeficiency 76
Splenomegaly, Lymphadenopathy OMIM:619164
Galactokinase Deficiency
Hepatomegaly, Hyperinsulinemia, Hypergonadotropic hypogonadism, Hepatosplenomegaly, Hypoglycemia ORPHA:79237
Pfapa Syndrome
Splenomegaly, Hepatomegaly, Lymphadenopathy ORPHA:42642
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Hepatosplenomegaly, Lymphadenopathy OMIM:618982
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia
Abnormal lymph node morphology, Chronic noninfectious lymphadenopathy ORPHA:97290
Immunodeficiency With Hyper-Igm, Type 5
Lymphadenopathy OMIM:608106
Congenital Generalized Lipodystrophy
Cirrhosis, Hyperinsulinemia, Hepatomegaly, Precocious puberty in females, Insulin resistance, Pol... ORPHA:528
Dietary Iron Overload Disease
Abnormal adrenal morphology, Hepatomegaly, Abnormal pancreas morphology, Hepatocellular carcinoma... ORPHA:139507
Familial Papillary Or Follicular Thyroid Carcinoma
Abnormal lymph node morphology, Chronic noninfectious lymphadenopathy ORPHA:319487
Granulomatous Slack Skin
Abnormal lymph node morphology ORPHA:33111
Mucopolysaccharidosis, Type Iiib
Hepatomegaly, Dense calvaria, Asymmetric septal hypertrophy, Splenomegaly, Cardiomegaly OMIM:252920
Hemophagocytic Lymphohistiocytosis, Familial, 4
Lymphadenopathy, Hepatomegaly, Splenomegaly OMIM:603552
Pancreatic Agenesis 2
Diabetes mellitus, Pancreatic hypoplasia, Exocrine pancreatic insufficiency, Pancreatic aplasia OMIM:615935
Pancreatitis, Hereditary
Pancreatic pseudocyst, Pancreatitis, Exocrine pancreatic insufficiency, Pancreatic calcification,... OMIM:167800
Tropical Pancreatitis
Jaundice, Maternal diabetes, Abnormal pancreatic duct morphology, Pancreatic calcification, Pancr... ORPHA:103918
Acquired Generalized Lipodystrophy
Cirrhosis, Hyperinsulinemia, Hepatomegaly, Acute pancreatitis, Insulin resistance, Polycystic ova... ORPHA:79086
Tropical Calcific Pancreatitis
Neoplasm of the pancreas, Chronic pancreatitis, Pancreatic calcification, Insulin-dependent but k... OMIM:608189
Immunodeficiency With Hyper-Igm, Type 2
Lymphadenopathy OMIM:605258
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Lymphadenopathy, Mediastinal lymphadenopathy, Splenomegaly OMIM:300853
Immunodeficiency, Common Variable, 2
Follicular hyperplasia, Lymphadenopathy, Hepatomegaly, Splenomegaly OMIM:240500
Proprotein Convertase 1/3 Deficiency
Hypoinsulinemia, Elevated circulating proinsulin concentration, Decreased circulating cortisol le... OMIM:600955
Pleural Mesothelioma
Hepatomegaly, Lymphadenopathy ORPHA:50251
Neuraminidase Deficiency
Hepatomegaly, Epiphyseal stippling, Cardiomyopathy, Splenomegaly, Cardiomegaly OMIM:256550
Immunodeficiency With Hyper-Igm, Type 3
Absence of lymph node germinal center OMIM:606843
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Splenomegaly, Hepatosplenomegaly, Lymphadenopathy OMIM:613101
Immunodeficiency 64 With Lymphoproliferation
Mediastinal lymphadenopathy, Lymphadenopathy, Hepatosplenomegaly, Splenomegaly, Cervical lymphade... OMIM:618534
Immunodeficiency 27B
Generalized lymphadenopathy OMIM:615978
Autoimmune Lymphoproliferative Syndrome, Type Iii
Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Hepatosplenomegaly, Splenomegaly, Gen... OMIM:615559
Laryngeal Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy ORPHA:100083
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Follicular hyperplasia, Lymphadenopathy OMIM:619846
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Hepatomegaly, Lymph node hypoplasia, Splenomegaly, Aplasia of the thymus, Absent tonsils, General... OMIM:602450
Mitochondrial Complex I Deficiency, Nuclear Type 39
Cardiomegaly, Atrial septal defect, Perimembranous ventricular septal defect, Hypertrophic cardio... OMIM:620135
Burkitt Lymphoma
Abnormal lymph node morphology, Abnormality of the spleen ORPHA:543
Cardiomyopathy, Familial Hypertrophic, 27
Ventricular septal hypertrophy, Concentric hypertrophic cardiomyopathy, Hypertrophic cardiomyopat... OMIM:618052
Hemochromatosis, Type 1
Hepatomegaly, Cardiomyopathy, Osteoporosis, Splenomegaly, Cardiomegaly OMIM:235200
Immunodeficiency 27A
Lymphadenopathy, Enlarged mesenteric lymph node, Hepatosplenomegaly, Splenomegaly OMIM:209950
Classic Mycosis Fungoides
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:2584
Caspase 8 Deficiency
Splenomegaly, Lymphadenopathy OMIM:607271
Duodenal Atresia
Annular pancreas, Abnormality of the pancreas ORPHA:1203
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Cervical lymphadenopathy OMIM:618987
Congenital Disorder Of Glycosylation, Type Ib
Hyperinsulinemic hypoglycemia, Hepatic fibrosis, Hepatomegaly, Cirrhosis OMIM:602579
Cold Agglutinin Disease
Splenomegaly, Hepatomegaly, Lymphadenopathy ORPHA:56425
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Splenomegaly, Hepatomegaly, Lymphadenopathy OMIM:618495
Activated Pi3K-Delta Syndrome
Lymphadenopathy, Hepatomegaly, Splenomegaly, Recurrent tonsillitis ORPHA:397596
Joint Contractures, Osteochondromas, And B-Cell Lymphoma
Reduced bone mineral density, Generalized lymphadenopathy OMIM:620232
Immunodeficiency 109 With Lymphoproliferation
Generalized lymphadenopathy, Splenomegaly OMIM:620282
Familial Cold Autoinflammatory Syndrome 2
Lymphadenopathy, Splenomegaly OMIM:611762
Pancreatic Agenesis 1
Pancreatic hypoplasia, Exocrine pancreatic insufficiency, Pancreatic aplasia, Neonatal insulin-de... OMIM:260370
Mulibrey Nanism
Hepatomegaly, Cardiomegaly, Pericardial constriction, Myocardial fibrosis, Thickened cortex of lo... OMIM:253250
Annular Pancreas
Annular pancreas ORPHA:675
Pancreas, Annular
Annular pancreas OMIM:167750
Combined Oxidative Phosphorylation Deficiency 8
Cardiomegaly, Hypertrophic cardiomyopathy OMIM:614096
Immunodeficiency With Hyper-Igm, Type 4
Absence of lymph node germinal center OMIM:608184
Gamma-Heavy Chain Disease
Splenomegaly, Hepatomegaly, Lymphadenopathy, Osteolysis ORPHA:100026
Ciliary Dyskinesia, Primary, 53
Situs inversus totalis, Perimembranous ventricular septal defect, Patent foramen ovale, Common at... OMIM:620642
Lipodystrophy, Familial Partial, Type 2
Hepatomegaly, Hyperinsulinemia, Acute pancreatitis, Hyperglycemia, Type II diabetes mellitus, Pol... OMIM:151660
Immunodeficiency 52
Lymphadenopathy, Splenomegaly OMIM:617514
Congenital Myopathy 8
Cardiomegaly OMIM:618654
Immunodeficiency 98 With Autoinflammation, X-Linked
Hepatomegaly, Lymphadenopathy, Myelofibrosis, Bone marrow hypocellularity, Splenomegaly OMIM:301078
Immunodeficiency 54
Lymphadenopathy, Hepatomegaly, Splenomegaly OMIM:609981
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Hypoglycemic seizures, Neonatal hypoglycemia, Hypoketotic hypoglycemia, Hepatic necrosis, Hyperin... ORPHA:71212
Tafro Syndrome
Hepatomegaly, Lymphadenopathy, Myelofibrosis, Hepatosplenomegaly, Splenomegaly ORPHA:457077
Systemic-Onset Juvenile Idiopathic Arthritis
Pericarditis, Splenomegaly, Hepatomegaly, Lymphadenopathy ORPHA:85414
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Lymphadenopathy, Hepatomegaly, Splenomegaly OMIM:619375
Mycosis Fungoides
Lymphadenopathy OMIM:254400
Roifman Syndrome
Delayed proximal femoral epiphyseal ossification, Noncompaction cardiomyopathy, Hepatosplenomegal... ORPHA:353298
Immunodeficiency 7
Splenomegaly, Hepatomegaly, Lymphadenopathy OMIM:615387
Immunodeficiency 103, Susceptibility To Fungal Infections
Lymphadenopathy OMIM:212050
Immunodeficiency 105
Absence of lymph node germinal center, Hepatosplenomegaly OMIM:619924
Niemann-Pick Disease, Type A
Lymphadenopathy, Hepatomegaly, Splenomegaly, Osteoporosis OMIM:257200
Ras-Associated Autoimmune Leukoproliferative Disorder
Follicular hyperplasia, Hepatomegaly, Splenomegaly OMIM:614470
Attrv30M Amyloidosis
Cardiomegaly, Cardiomyopathy ORPHA:85447
Immunodeficiency, Common Variable, 1
Lymphadenopathy, Hepatomegaly, Splenomegaly OMIM:607594
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly OMIM:613576
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Splenomegaly, Lymphadenopathy OMIM:150550
Mandibuloacral Dysplasia
Insulin resistance, Hyperinsulinemia, Glucose intolerance, Insulin-resistant diabetes mellitus ORPHA:2457
Immune Dysregulation, Autoimmunity, And Autoinflammation
Cervical lymphadenopathy, Inguinal lymphadenopathy OMIM:620514
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal ventriculoarterial connection, Hepatomegaly, Ventricular septal defect, Anomalous pulmon... ORPHA:860
Rabson-Mendenhall Syndrome
Increased serum testosterone level, Fasting hypoglycemia, Enlarged ovaries, Impaired glucose tole... ORPHA:769
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly OMIM:300886
Mitochondrial Complex I Deficiency, Nuclear Type 36
Cardiomegaly, Perimembranous ventricular septal defect OMIM:619170
Roifman Syndrome
Hepatomegaly, Lymphadenopathy, Noncompaction cardiomyopathy, Splenomegaly, Ventricular septal defect OMIM:616651
Castleman Disease
Mediastinal lymphadenopathy, Lymphadenopathy, Restrictive cardiomyopathy, Myelofibrosis, Generali... ORPHA:160
Cantu Syndrome
Bicuspid aortic valve, Osteoporosis, Pericardial effusion, Congenital hypertrophy of left ventric... OMIM:239850
Pseudomyxoma Peritonei
Lymphadenopathy ORPHA:26790
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Absent tonsils, Absence of lymph node germinal center ORPHA:277
Lymphoproliferative Syndrome 2
Lymphadenopathy, Hepatomegaly, Hepatosplenomegaly, Splenomegaly OMIM:615122
Griscelli Syndrome Type 2
Splenomegaly, Hepatomegaly, Lymphadenopathy ORPHA:79477
Retinitis Pigmentosa
Abnormal testis morphology, Hyperinsulinemia, Type II diabetes mellitus, Hypogonadism ORPHA:791
Familial Atrial Myxoma
Cardiomegaly, Bacterial endocarditis, Pulmonic valve myxoma, Cardiac myxoma ORPHA:615
Heme Oxygenase 1 Deficiency
Cervical lymphadenopathy, Hepatomegaly, Lymphadenopathy, Asplenia OMIM:614034
Lipodystrophy, Congenital Generalized, Type 1
Cirrhosis, Hyperinsulinemia, Hepatomegaly, Decreased serum leptin, Acute pancreatitis, Splenomega... OMIM:608594
Mandibuloacral Dysplasia With Type B Lipodystrophy
Hyperinsulinemia, Hyperglycemia, Glucose intolerance, Insulin-resistant diabetes mellitus OMIM:608612
Tularemia
Abnormal nasopharyngeal adenoid morphology, Cervical lymphadenopathy, Mediastinal lymphadenopathy... ORPHA:3392
Lipodystrophy, Congenital Generalized, Type 4
Hyperinsulinemia, Hepatomegaly, Splenomegaly, Insulin resistance, Hepatic steatosis OMIM:613327
Felty Syndrome
Hepatomegaly, Lymphadenopathy, Bone marrow hypocellularity, Pericarditis, Splenomegaly, Osteolysis ORPHA:47612
Uruguay Faciocardiomusculoskeletal Syndrome
Left atrial enlargement, Ventricular hypertrophy, Cardiomyopathy, Hypertrophic cardiomyopathy, Le... OMIM:300280
Aggressive Systemic Mastocytosis
Lymphadenopathy, Osteoporosis, Hepatosplenomegaly, Hypersplenism, Osteolysis ORPHA:98850
American Trypanosomiasis
Myocarditis, Hepatomegaly, Lymphadenopathy, Cardiomyopathy, Splenomegaly ORPHA:3386
Pseudo-Torch Syndrome 3
Cardiomegaly, Lymphadenitis OMIM:618886
Igg4-Related Thyroid Disease
Euthyroid goiter, Sclerosing cholangitis, Sialadenitis, Thyroiditis, Thyrotoxicosis with diffuse ... ORPHA:64744
Mitchell-Riley Syndrome
Annular pancreas, Biliary atresia, Pancreatic hypoplasia, Cholestasis, Hyperglycemia, Absent gall... OMIM:615710
Pulmonary Non-Tuberculous Mycobacterial Infection
Pericardial effusion, Lymphadenopathy ORPHA:411703
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Cardiomegaly, Dilated cardiomyopathy, Hepatomegaly OMIM:600649
Thymic Neuroendocrine Tumor
Osteopenia, Mediastinal lymphadenopathy, Chronic noninfectious lymphadenopathy, Neoplasm of the t... ORPHA:97289
Proteasome-Associated Autoinflammatory Syndrome 4
Splenomegaly, Hepatomegaly, Lymphadenopathy OMIM:619183
Desmoplastic Small Round Cell Tumor
Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:83469
Cinca Syndrome
Lymphadenopathy, Reduced bone mineral density, Splenomegaly, Hepatomegaly ORPHA:1451
Neurooculocardiogenitourinary Syndrome
Cardiomegaly, Atrial septal defect, Patent foramen ovale, Ventricular septal defect OMIM:618652
Lipodystrophy, Congenital Generalized, Type 2
Cirrhosis, Hyperinsulinemia, Hepatomegaly, Decreased serum leptin, Acute pancreatitis, Splenomega... OMIM:269700
Klatskin Tumor
Hepatomegaly, Lymphadenopathy ORPHA:99978
Alstrom Syndrome
Decreased response to growth hormone stimulation test, Hyperinsulinemia, Hepatomegaly, Diabetes i... OMIM:203800
Leishmaniasis
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:507
Deafness-Lymphedema-Leukemia Syndrome
Bone marrow hypocellularity, Hepatomegaly, Splenomegaly, Lymphadenopathy ORPHA:3226
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Cardiomegaly, Hepatomegaly OMIM:619064
Cinca Syndrome
Hepatosplenomegaly, Lymphadenopathy OMIM:607115
Congenital Tricuspid Valve Dysplasia
Tricuspid valve prolapse, Hepatomegaly, Abnormal tricuspid valve annulus morphology, Patent foram... ORPHA:555874
Middle Ear Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy ORPHA:100084
Autoimmune Lymphoproliferative Syndrome
Chronic noninfectious lymphadenopathy, Hepatomegaly, Splenomegaly, Follicular hyperplasia OMIM:601859
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Osteopenia, Decreased skull ossification, Hypertrophic cardiomyopathy, Cardiomegaly, Ventricular ... OMIM:616897
Fixed Subaortic Stenosis
Atrioventricular canal defect, Cardiomegaly, Bacterial endocarditis, Pulmonic stenosis, Abnormal ... ORPHA:3092
Carnitine Deficiency, Systemic Primary
Hepatomegaly, Cardiomyopathy, Hypertrophic cardiomyopathy, Cardiomegaly, Endocardial fibroelastosis OMIM:212140
Woodhouse-Sakati Syndrome
Delayed puberty, Decreased response to growth hormone stimulation test, Hyperinsulinemia, Decreas... ORPHA:3464
Sézary Syndrome
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:3162
Gaucher Disease, Type Iiic
Hepatomegaly, Mitral valve calcification, Mitral stenosis, Splenomegaly, Aortic valve calcificati... OMIM:231005
Combined Oxidative Phosphorylation Deficiency 10
Cardiomegaly, Pericardial effusion, Hypertrophic cardiomyopathy OMIM:614702
Mixed Connective Tissue Disease
Myocarditis, Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Pericarditis, Splenomega... ORPHA:809
Autoimmune Lymphoproliferative Syndrome, Type Iia
Hepatomegaly, Lymphadenopathy, Chronic noninfectious lymphadenopathy, Splenomegaly, Follicular hy... OMIM:603909
Arterial Calcification, Generalized, Of Infancy, 2
Cardiomegaly, Hypophosphatemic rickets, Right atrial enlargement OMIM:614473
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Osteopenia, Absent peripheral lymph nodes in presence of infection ORPHA:98813
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Absent tonsils, Hepatomegaly, Lymph node hypoplasia ORPHA:276
Combined Immunodeficiency Due To Zap70 Deficiency
Lymphadenitis, Abnormal lymph node morphology, Hepatosplenomegaly, Lymphadenopathy ORPHA:911
Meige Disease
Absence of lymph node germinal center, Lymph node hypoplasia ORPHA:90186
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Abnormality of the lymphatic system, Abnormal lymph node morphology ORPHA:54251
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular septal hypertrophy, Muscular ventricular septal defect, Hepatomegaly, Ventricular hyp... OMIM:115197
Prader-Willi Syndrome
Delayed puberty, Decreased response to growth hormone stimulation test, Hyperinsulinemia, Precoci... OMIM:176270
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Cardiomegaly, Ventricular hypertrophy, Hypertrophic cardiomyopathy OMIM:619051
Attrv122I Amyloidosis
Cardiac amyloidosis, Restrictive cardiomyopathy, Hypertrophic cardiomyopathy, Aortic valve stenos... ORPHA:85451
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Lymphadenopathy, Recurrent tonsillitis, Lymphadenitis, Hepatosplenomegaly, Splenomegaly OMIM:618935
Scrub Typhus
Myocarditis, Lymphadenopathy, Splenomegaly ORPHA:83317
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies
Hepatosplenomegaly, Lymphadenopathy OMIM:619750
Dopamine Beta-Hydroxylase Deficiency
Insulin resistance, Hypoglycemia, Hyperinsulinemia ORPHA:230
Idiopathic Pulmonary Hemosiderosis
Cardiomegaly, Hepatomegaly, Hepatosplenomegaly ORPHA:99931
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Osteopenia, Abnormal bone ossification, Cardiomegaly, Abnormal thymus morphology ORPHA:2463
Poems Syndrome
Hepatomegaly, Lymphadenopathy, Visceromegaly, Sclerosis of hand bone, Pericardial effusion, Scler... ORPHA:2905
Griscelli Syndrome
Bone marrow hypocellularity, Hepatomegaly, Splenomegaly, Lymphadenopathy ORPHA:381
Mandibuloacral Dysplasia With Type A Lipodystrophy
Hepatomegaly, Hyperinsulinemia, Impaired glucose tolerance, Hyperglycemia, Insulin-resistant diab... OMIM:248370
Heterotaxy, Visceral, 1, X-Linked
Enlarged kidney, Pulmonic stenosis, Cardiomegaly, Right atrial isomerism, Transposition of the gr... OMIM:306955
Primary Myelofibrosis
Lymphadenopathy, Hepatomegaly, Hepatosplenomegaly, Splenomegaly ORPHA:824
Symptomatic Form Of Hfe-Related Hemochromatosis
Hepatomegaly, Cardiomyopathy, Osteoporosis, Splenomegaly, Cardiomegaly ORPHA:465508
Lymphoproliferative Syndrome, X-Linked, 1
Lymphadenopathy, Hepatomegaly, Splenomegaly OMIM:308240
Martinez-Frias Syndrome
Annular pancreas, Hypoplasia of the gallbladder, Pancreatic hypoplasia, Extrahepatic biliary duct... OMIM:601346
Acquired Hypertrichosis Lanuginosa
Lymphadenopathy ORPHA:2221
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Cardiomegaly, Delayed epiphyseal ossification OMIM:613320
Nephroblastoma
Lymphadenopathy ORPHA:654
Rhabdoid Tumor
Lymphadenopathy ORPHA:69077
Lymphoproliferative Syndrome 1
Pericardial effusion, Lymphadenopathy, Hepatomegaly, Splenomegaly OMIM:613011
Immunodeficiency 91 And Hyperinflammation
Hepatomegaly, Hepatosplenomegaly, Lymphadenopathy OMIM:619644
Thyroid Lymphoma
Lymphadenopathy ORPHA:97285
Hypocomplementemic Urticarial Vasculitis
Hepatomegaly, Lymphadenopathy, Abnormal heart valve morphology, Pericardial effusion, Splenomegaly ORPHA:36412
Boutonneuse Fever
Cervical lymphadenopathy, Lymphadenopathy ORPHA:83313
Craniofaciofrontodigital Syndrome
Osteopenia, Cardiomegaly, Abnormal heart valve morphology, Osteoporosis, Aortic valve stenosis, P... ORPHA:363705
Coronary Arterial Fistula
Atrial septal defect, Cardiomegaly, Bacterial endocarditis, Patent foramen ovale, Aortic valve st... ORPHA:2041
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Lymphadenopathy, Hepatomegaly, Splenomegaly OMIM:616100
Timothy Syndrome
Cardiomegaly, Patent foramen ovale, Ventricular septal defect, Tetralogy of Fallot OMIM:601005
Papa Syndrome
Lymphadenopathy ORPHA:69126
Leprechaunism
Hyperinsulinemia, Hepatomegaly, Fasting hypoglycemia, Increased circulating renin level, Central ... ORPHA:508
Alpha-N-Acetylgalactosaminidase Deficiency
Cardiomegaly ORPHA:3137
Squamous Cell Carcinoma Of The Anal Canal
Lymphadenopathy ORPHA:424019
Diffuse Cutaneous Mastocytosis
Lymphadenopathy, Hepatomegaly, Abnormality of the spleen ORPHA:79456
Histiocytosis-Lymphadenopathy Plus Syndrome
Hepatomegaly, Lymphadenopathy, Pulmonic stenosis, Hepatosplenomegaly, Splenomegaly, Mitral valve ... OMIM:602782
Adult-Onset Still Disease
Myocarditis, Hepatomegaly, Lymphadenopathy, Bone marrow hypocellularity, Pericarditis, Splenomega... ORPHA:829
Omenn Syndrome
Splenomegaly, Hepatomegaly, Hypoplasia of the thymus, Lymphadenopathy OMIM:603554
Long-Olsen-Distelmaier Syndrome
Cardiomegaly, Dilated cardiomyopathy, Secundum atrial septal defect, Ventricular septal defect OMIM:620609
Solitary Fibrous Tumor
Abnormal peritoneum morphology, Hypoinsulinemia, Hypoglycemia, Recurrent hypoglycemia, Neoplasm o... ORPHA:2126
Legionnaires Disease
Myocarditis, Lymphadenopathy, Bone marrow hypocellularity, Pericarditis, Splenomegaly, Endocarditis ORPHA:549
Omenn Syndrome
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:39041
Aorta Coarctation
Perimembranous ventricular septal defect, Cardiomegaly, Abnormal left ventricular outflow tract m... ORPHA:1457
Sickle Cell Disease
Cardiomegaly, Splenomegaly, Hepatomegaly, Splenic infarction OMIM:603903
Isolated Right Ventricular Hypoplasia
Muscular ventricular septal defect, Patent foramen ovale, Right atrial enlargement, Cardiomegaly,... ORPHA:439
Immunodeficiency 10
Lymphadenopathy, Hepatomegaly, Splenomegaly OMIM:612783
Combined Immunodeficiency Due To Crac Channel Dysfunction
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:169090
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Cardiomegaly, Hepatomegaly ORPHA:42
Purine Nucleoside Phosphorylase Deficiency
Lymph node hypoplasia, Splenomegaly OMIM:613179
Atelis Syndrome 2
Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia OMIM:620185
Immunodeficiency 97 With Autoinflammation
Lymphadenopathy, Mediastinal lymphadenopathy, Hepatosplenomegaly, Splenomegaly OMIM:619802
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Aortic valve stenosis, Abnormal atrioventricular valve morphology, Cardiomegaly, Mitral valve pro... ORPHA:324410
Anaplastic Thyroid Carcinoma
Lymphadenopathy ORPHA:142
Hsd10 Disease, Infantile Type
Cardiomegaly, Hypertrophic cardiomyopathy ORPHA:391428
Proteasome-Associated Autoinflammatory Syndrome 2
Lymphadenopathy OMIM:618048
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Osteopenia, Bicuspid aortic valve, Patent foramen ovale, Osteoporosis, Generalized osteoporosis, ... OMIM:245600
Atypical Werner Syndrome
Delayed puberty, Neoplasm of the thyroid gland, Hyperinsulinemia, Ovarian neoplasm, Abnormal test... ORPHA:79474
Hereditary Amyloidosis With Primary Renal Involvement
Abnormal lymph node morphology, Hepatomegaly, Hepatosplenomegaly, Lymphadenopathy ORPHA:85450
Cyclic Neutropenia
Cervical lymphadenopathy, Lymphadenopathy, Recurrent tonsillitis ORPHA:2686
Combined Oxidative Phosphorylation Deficiency 41
Cardiomegaly OMIM:618838
Hyperimmunoglobulinemia D With Periodic Fever
Hepatomegaly, Lymphadenopathy ORPHA:343
Lethal Congenital Contracture Syndrome 10
Cardiomegaly, Overriding aorta, Ventricular septal defect, Hypoplasia of the thymus OMIM:617022
Refsum Disease, Classic
Cardiomegaly, Cardiomyopathy OMIM:266500
Cantú Syndrome
Cardiomegaly, Abnormal heart valve morphology, Hypertrophic cardiomyopathy, Osteoporosis ORPHA:1517
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Hepatomegaly, Lymphadenopathy, Cardiomyopathy, Lymphadenitis, Splenomegaly, Dilated cardiomyopathy OMIM:615895
Pancreatoblastoma
Abnormal lymph node morphology ORPHA:677
Combined Oxidative Phosphorylation Deficiency 33
Cardiomegaly, Hepatomegaly, Cardiomyopathy, Left ventricular hypertrophy OMIM:617713
Medullary Thyroid Carcinoma
Lymphadenopathy ORPHA:1332
Steinert Myotonic Dystrophy
Non-medullary thyroid carcinoma, Abnormality of thyroid physiology, Hyperinsulinemia, Decreased r... ORPHA:273
Melkersson-Rosenthal Syndrome
Lymphadenopathy ORPHA:2483
Sandhoff Disease
Cardiomegaly, Hepatomegaly, Hepatosplenomegaly OMIM:268800
Macrophage Activation Syndrome
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:158061
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Hepatosplenomegaly, Lymphadenopathy ORPHA:169154
Pulmonary Capillary Hemangiomatosis
Pericardial effusion, Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:199241
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Cardiomegaly, Hepatomegaly, Hypertrophic cardiomyopathy OMIM:201475
Neuroendocrine Tumor Of The Colon
Hepatomegaly, Chronic noninfectious lymphadenopathy, Abnormal pulmonary valve cusp morphology ORPHA:100080
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:436159
Arterial Calcification, Generalized, Of Infancy, 1
Cardiomegaly, Dilated cardiomyopathy, Hypophosphatemic rickets OMIM:208000
Periodic Fever, Familial, Autosomal Dominant
Hepatomegaly, Cervical lymphadenopathy OMIM:142680
Mogs-Cdg
Hepatomegaly, Hepatosplenomegaly, Left ventricular hypertrophy, Cardiomegaly, Atrial septal defect ORPHA:79330
Lig4 Syndrome
Hepatomegaly, Lymphadenopathy ORPHA:99812
Immunodeficiency With Hyper-Igm, Type 1
Absence of lymph node germinal center, Enlarged tonsils, Splenomegaly, Hepatomegaly OMIM:308230
Q Fever
Myocarditis, Hepatomegaly, Lymphadenopathy, Abnormal heart valve morphology, Pericarditis, Perica... ORPHA:781
Multiple Myeloma
Osteopenia, Lymphadenopathy, Splenomegaly ORPHA:29073
Acute Interstitial Pneumonia
Pericardial effusion, Lymphadenopathy ORPHA:79126
Cirrhotic Cardiomyopathy
Left atrial enlargement, Hepatomegaly, Right atrial enlargement, Left ventricular hypertrophy, Ca... ORPHA:57777
Mucopolysaccharidosis Type 3
Reduced bone mineral density, Abnormal aortic valve morphology, Hepatomegaly, Recurrent tonsillit... ORPHA:581
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Lymphadenitis, Lymphadenopathy, Hepatomegaly, Splenomegaly OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Lymphadenitis, Lymphadenopathy, Hepatomegaly, Splenomegaly OMIM:233710
Turner Syndrome Due To Structural X Chromosome Anomalies
Cholestatic liver disease, Delayed puberty, Cirrhosis, Hyperinsulinemia, Thyroiditis, Hepatic fib... ORPHA:99413
Turner Syndrome
Cholestatic liver disease, Delayed puberty, Cirrhosis, Hyperinsulinemia, Thyroiditis, Hepatic fib... ORPHA:881
Mosaic Monosomy X
Cholestatic liver disease, Delayed puberty, Cirrhosis, Hyperinsulinemia, Thyroiditis, Hepatic fib... ORPHA:99228
Monosomy X
Cholestatic liver disease, Delayed puberty, Cirrhosis, Hyperinsulinemia, Thyroiditis, Hepatic fib... ORPHA:99226
Beck-Fahrner Syndrome
Cardiomegaly, Ventricular septal defect OMIM:618798
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Enlarged tonsils, Hepatosplenomegaly, Lymphadenopathy OMIM:606367
Systemic Mastocytosis With Associated Hematologic Neoplasm
Lymphadenopathy, Hepatomegaly, Splenomegaly, Osteoporosis ORPHA:98849
Mevalonic Aciduria
Fluctuating splenomegaly, Hepatosplenomegaly, Lymphadenopathy, Fluctuating hepatomegaly OMIM:610377
Familial Hemophagocytic Lymphohistiocytosis
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:540
Immunodeficiency 31C
Osteopenia, Lymphadenopathy, Hepatomegaly, Splenomegaly OMIM:614162
H Syndrome
Enlarged kidney, Hepatosplenomegaly, Lymphadenopathy, Osteolysis ORPHA:168569
Gaucher Disease, Perinatal Lethal
Cardiomegaly, Hepatomegaly, Hepatosplenomegaly, Splenomegaly OMIM:608013
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Lymphadenitis, Lymphadenopathy, Hepatomegaly, Splenomegaly OMIM:233690
Proteasome-Associated Autoinflammatory Syndrome 3
Lymphadenopathy, Hepatomegaly, Splenomegaly OMIM:617591
Immunodeficiency, Common Variable, 8, With Autoimmunity
Lymphadenopathy, Generalized lymphadenopathy, Splenomegaly OMIM:614700
Farber Disease
Hepatosplenomegaly, Lymphadenopathy, Osteoporosis ORPHA:333
Hemophagocytic Lymphohistiocytosis, Familial, 1
Lymphadenopathy, Hepatomegaly, Splenomegaly OMIM:267700
Congenital Syphilis
Periostitis, Myocarditis, Hepatosplenomegaly, Lymphadenopathy ORPHA:499009
Hemophagocytic Lymphohistiocytosis, Familial, 2
Lymphadenopathy, Hepatomegaly, Hepatosplenomegaly, Splenomegaly OMIM:603553
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Generalized lymphadenopathy, Hepatosplenomegaly, Lymphadenitis OMIM:618986
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Hepatomegaly, Mediastinal lymphadenopathy, Hilar lymph node enlargement, Right atrial enlargement... OMIM:620233
Complete Atrioventricular Septal Defect
Displacement of the papillary muscles, Hepatomegaly, Primum atrial septal defect, Right ventricul... ORPHA:1329
Autosomal Recessive Malignant Osteopetrosis
Osteopetrosis, Reduced bone mineral density, Hepatomegaly, Lymphadenopathy, Splenomegaly, Cranios... ORPHA:667
Drug Reaction With Eosinophilia And Systemic Symptoms
Myocarditis, Lymphadenopathy ORPHA:139402
Familial Aortic Dissection
Cardiomegaly ORPHA:229
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
Hyper-Igd Syndrome
Lymphadenitis, Lymphadenopathy, Hepatosplenomegaly, Splenomegaly OMIM:260920
Liver Disease, Severe Congenital
Jaundice, Intrahepatic cholestasis, Hepatomegaly, Increased hepatic glycogen content, Portal infl... OMIM:619991
Tangier Disease
Chronic noninfectious lymphadenopathy, Coronary artery stenosis, Orange discolored tonsils, Hepat... ORPHA:31150
Danon Disease
Myocardial necrosis, Hypertrophic cardiomyopathy, Myocardial fibrosis, Cardiomegaly, Dilated card... OMIM:300257
Igg4-Related Submandibular Gland Disease
Enlarged lacrimal glands, Prostatitis, Abnormal salivary gland morphology, Cholangitis, Abnormal ... ORPHA:449432
Carnitine Palmitoyltransferase I Deficiency
Cardiomegaly, Hepatomegaly OMIM:255120
Agammaglobulinemia, X-Linked
Cor pulmonale, Lymph node hypoplasia OMIM:300755
Cutaneous Neuroendocrine Carcinoma
Chronic noninfectious lymphadenopathy ORPHA:79140
Mucolipidosis Ii Alpha/Beta
Osteopenia, Enlarged kidney, Hepatomegaly, Hypertrophic cardiomyopathy, Splenomegaly, Cardiomegal... OMIM:252500
Bronchial Neuroendocrine Tumor
Hepatomegaly, Chronic noninfectious lymphadenopathy, Abnormal pulmonary valve cusp morphology ORPHA:97287
Amyloidosis, Hereditary, Transthyretin-Related
Cardiomegaly, Cardiomyopathy OMIM:105210
Double Outlet Left Ventricle
Pulmonary valve atresia, Double outlet left ventricle, Tricuspid atresia, Bicuspid pulmonary valv... ORPHA:3427
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Lymphadenopathy OMIM:304790
Pediatric Systemic Lupus Erythematosus
Pericardial effusion, Lymphadenopathy ORPHA:93552
Kikuchi-Fujimoto Disease
Myocarditis, Hepatomegaly, Abnormal lymph node morphology, Lymphadenopathy, Splenomegaly, General... ORPHA:50918
Fucosidosis
Cardiomegaly, Hepatomegaly ORPHA:349
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Cardiomegaly, Enlarged kidney, Hepatomegaly, Dilated cardiomyopathy OMIM:608836
Naxos Disease
Right ventricular cardiomyopathy, Abnormal morphology of right ventricular trabeculae, Abnormal h... OMIM:601214
Aregenerative Anemia
Bone marrow hypocellularity, Lymphadenopathy ORPHA:101096
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Absence of lymph node germinal center, Hepatomegaly, Hepatosplenomegaly ORPHA:79124
Truncus Arteriosus
Transposition of the great arteries, Abnormal heart valve morphology, Truncus arteriosus, Hypopla... ORPHA:3384
Glycogen Storage Disease Ii
Cardiomegaly, Hepatomegaly, Splenomegaly OMIM:232300
Waldenström Macroglobulinemia
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:33226
Hennekam Syndrome
Lymphadenopathy, Pericardial effusion, Lymphangioma, Splenomegaly, Pulmonary lymphangiectasia, Cr... ORPHA:2136
Malt Lymphoma
Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:52417
Glycogen Storage Disease Of Heart, Lethal Congenital
Enlarged kidney, Cardiomyopathy, Hypertrophic cardiomyopathy, Pericardial effusion, Cardiomegaly,... OMIM:261740
Graft Versus Host Disease
Hepatosplenomegaly, Lymphadenopathy ORPHA:39812
Tenorio Syndrome
Hypoglycemia, Hypoinsulinemia OMIM:616260
Congenital Disorder Of Glycosylation, Type It
Cardiomegaly, Dilated cardiomyopathy, Hepatomegaly, Ventricular septal defect OMIM:614921
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Cardiomegaly, Cardiomyopathy OMIM:619259
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Hepatomegaly, Lymphadenopathy, Accessory spleen, Splenomegaly, Ventricular septal defect, Polyspl... OMIM:619418
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Cardiomegaly, Partial atrioventricular canal defect, Secundum atrial septal defect, Bicuspid aort... OMIM:620066
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Lymphadenopathy OMIM:617099
Fucosidosis
Cardiomegaly, Hepatomegaly, Splenomegaly OMIM:230000
Chediak-Higashi Syndrome
Lymphadenopathy, Hepatomegaly, Splenomegaly OMIM:214500
Lymphatic Filariasis
Lymphadenitis, Abnormality of the lymphatic system, Lymphangiectasis, Lymphadenopathy ORPHA:2035
Acute Promyelocytic Leukemia
Lymphadenopathy ORPHA:520
Granulomatous Disease, Chronic, X-Linked
Lymphadenitis, Lymphadenopathy, Hepatomegaly, Splenomegaly OMIM:306400
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Cardiomegaly, Hepatomegaly, Hypertrophic cardiomyopathy, Left ventricular hypertrophy ORPHA:308552
Spondyloenchondrodysplasia With Immune Dysregulation
Sclerosis of skull base, Lymphadenopathy OMIM:607944
Carney Triad
Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:139411
Sarcoidosis, Susceptibility To, 1
Hepatomegaly, Mediastinal lymphadenopathy, Bone cyst, Pericardial effusion, Splenomegaly, General... OMIM:181000
Lethal Acantholytic Erosive Disorder
Cardiomegaly, Cardiomyopathy ORPHA:158687
Developmental And Epileptic Encephalopathy 95
Cardiomegaly, Hepatomegaly OMIM:618143
Familial Pancreatic Carcinoma
Hepatosplenomegaly, Lymphadenopathy ORPHA:1333
Coccidioidomycosis
Mediastinal lymphadenopathy, Lymphadenopathy, Pericarditis, Abnormality of the spleen, Osteolysis ORPHA:228123
Chikungunya
Periostitis, Cervical lymphadenopathy, Lymphadenopathy, Osteolysis ORPHA:324625
Common Variable Immunodeficiency
Lymphadenopathy, Splenomegaly ORPHA:1572
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Cardiomegaly, Hepatomegaly, Cardiomyopathy, Abnormal myocardium morphology ORPHA:228308
Interatrial Communication
Atrial septal defect, Sinus venosus atrial septal defect, Primum atrial septal defect, Secundum a... ORPHA:1478
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Hepatomegaly, Lymphadenopathy, Bone marrow hypocellularity, Hepatosplenomegaly, Splenomegaly, Dil... OMIM:615688
Neurodegeneration And Seizures Due To Copper Transport Defect
Cardiomegaly OMIM:620306
Acute Generalized Exanthematous Pustulosis
Lymphadenopathy ORPHA:293173
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Lymphadenopathy, Abnormal myocardium morphology, Splenomegaly, Pericarditis ORPHA:32960
Abetalipoproteinemia
Osteopenia, Hepatomegaly, Cardiomegaly ORPHA:14
Lymphangioleiomyomatosis
Abnormality of the lymphatic system, Pulmonary lymphangiomyomatosis, Lymphadenopathy, Chyloperica... ORPHA:538
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Cardiomegaly, Ventricular hypertrophy, Hepatosplenomegaly, Hepatomegaly OMIM:618278
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Cardiomegaly, Right ventricular hypertrophy ORPHA:268
Congenital Tracheomalacia
Abnormal heart morphology, Tetralogy of Fallot, Partial anomalous pulmonary venous return, Cardio... ORPHA:95430
Glycogen Storage Disease Due To Acid Maltase Deficiency
Hepatomegaly, Hypertrophic cardiomyopathy, Osteoporosis, Left ventricular hypertrophy, Cardiomegaly ORPHA:365
Neuroblastoma
Lymphadenopathy ORPHA:635
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Cervical lymphadenopathy, Lymphadenopathy OMIM:617718
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Cardiomegaly, Patent foramen ovale, Splenic cyst OMIM:620371
Immunodeficiency 55
Lymphadenopathy OMIM:617827
T-Cell Immunodeficiency With Thymic Aplasia
Lymphadenopathy, Aplasia of the thymus ORPHA:83471
Absence Of The Pulmonary Artery
Patent foramen ovale, Truncus arteriosus, Abnormal heart morphology, Tetralogy of Fallot, Cardiom... ORPHA:980
Alström Syndrome
Precocious puberty in females, Primary hypothyroidism, Splenomegaly, Decreased circulating T4 con... ORPHA:64
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Lymphadenopathy, Splenomegaly ORPHA:37042
Ileal Neuroendocrine Tumor
Pulmonic stenosis, Tricuspid stenosis, Lymphadenopathy ORPHA:100078
Autoimmune Lymphoproliferative Syndrome
Hepatomegaly, Lymphadenopathy, Chronic noninfectious lymphadenopathy, Bone marrow hypocellularity... ORPHA:3261
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
Familial Idiopathic Dilatation Of The Right Atrium
Hepatomegaly, Atrial septal dilatation, Right atrial enlargement, Right ventricular hypertrophy, ... ORPHA:1677
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Hepatosplenomegaly, Lymphadenopathy ORPHA:85408
Chédiak-Higashi Syndrome
Pericardial effusion, Lymphadenopathy, Hepatosplenomegaly, Splenomegaly ORPHA:167
Selective Igm Deficiency
Lymphadenitis, Lymphadenopathy ORPHA:331235
Ogden Syndrome
Left atrial enlargement, Perimembranous ventricular septal defect, Enlarged kidney, Cardiomegaly,... OMIM:300855
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Patent foramen ovale, Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, R... OMIM:300967
Brucellosis
Myocarditis, Abnormal aortic valve morphology, Hepatomegaly, Lymphadenopathy, Pericarditis, Splen... ORPHA:1304
Immunodeficiency 82 With Systemic Inflammation
Osteomalacia, Lymphadenopathy, Splenomegaly, Follicular hyperplasia OMIM:619381
Autoinflammatory Disease, Systemic, With Vasculitis
Cardiomegaly, Hepatomegaly, Hepatosplenomegaly, Splenomegaly OMIM:620376
Proteasome-Associated Autoinflammatory Syndrome 1
Cardiomegaly, Lymphadenopathy, Hepatomegaly, Splenomegaly OMIM:256040
Familial Mediterranean Fever
Lymphadenopathy, Splenomegaly, Pericarditis ORPHA:342
Tropical Endomyocardial Fibrosis
Left atrial enlargement, Endocardial fibrosis, Hepatomegaly, Right ventricular cardiomyopathy, Re... ORPHA:75565
Sarcoidosis
Bone cyst, Hepatomegaly, Abnormal lymph node morphology, Lymphadenopathy ORPHA:797
Behçet Disease
Lymphadenopathy, Pericarditis, Abnormal myocardium morphology, Splenomegaly, Endocarditis ORPHA:117
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Bicuspid aortic valve, Cardiomegaly ORPHA:91387
Histiocytoid Cardiomyopathy
Cardiomegaly, Hepatomegaly, Ventricular septal defect ORPHA:137675
Aicardi-Goutières Syndrome
Cardiomegaly, Hepatosplenomegaly, Hypertrophic cardiomyopathy ORPHA:51
Bohring-Opitz Syndrome
Cardiomegaly, Abnormal cardiac septum morphology ORPHA:97297
Yunis-Varon Syndrome
Absent sternal ossification, Cardiomyopathy, Decreased skull ossification, Tetralogy of Fallot, C... ORPHA:3472
Congenital Total Pulmonary Venous Return Anomaly
Infracardiac total anomalous pulmonary venous connection, Atrial situs ambiguous, Transposition o... ORPHA:99125
Adenocarcinoma Of The Anal Canal
Lymphadenopathy ORPHA:424016
Paternal Uniparental Disomy Of Chromosome 6
Cardiomegaly, Hepatomegaly, Ventricular septal defect ORPHA:96191
Williams Syndrome
Osteopenia, Abnormal endocardium morphology, Cardiomegaly, Increased bone mineral density, Hypert... ORPHA:904
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Cardiomegaly ORPHA:79280
Singleton-Merten Syndrome 1
Osteopenia, Osteolytic defects of the phalanges of the hand, Osteoporosis, Mitral valve calcifica... OMIM:182250
Beckwith-Wiedemann Syndrome
Enlarged kidney, Hepatomegaly, Cardiomyopathy, Pancreatic hyperplasia, Cardiomegaly OMIM:130650
Igg4-Related Kidney Disease
Lymphadenitis, Enlarged kidney, Lymphadenopathy, Pericarditis ORPHA:449395
Pmm2-Cdg
Elevated circulating thyroid-stimulating hormone concentration, Abnormal liver parenchyma morphol... ORPHA:79318
Beckwith-Wiedemann Syndrome
Enlarged kidney, Hepatomegaly, Visceromegaly, Hypertrophic cardiomyopathy, Splenomegaly, Cardiome... ORPHA:116
Leukocyte Adhesion Deficiency
Hyperinsulinemic hypoglycemia, Peritonitis ORPHA:2968
Crimean-Congo Hemorrhagic Fever
Myocarditis, Hepatomegaly, Lymphadenopathy, Pericardial effusion, Splenomegaly ORPHA:99827
Generalized Arterial Calcification Of Infancy
Hypophosphatemic rickets, Cardiomegaly, Abnormal calcification of the carpal bones, Ventricular h... ORPHA:51608
Cushing Syndrome Due To Ectopic Acth Secretion
Abnormal lymph node morphology, Neoplasm of the thymus, Osteoporosis ORPHA:99889
Blau Syndrome
Lymphadenopathy, Splenomegaly, Pericarditis ORPHA:90340
Leptospirosis
Pericarditis, Hepatomegaly, Lymphadenopathy ORPHA:509
Marburg Hemorrhagic Fever
Pericarditis, Lymphadenopathy ORPHA:99826
African Trypanosomiasis
Myocarditis, Hepatomegaly, Lymphadenopathy, Pericarditis, Hepatosplenomegaly, Splenomegaly ORPHA:3385
Igg4-Related Dacryoadenitis And Sialadenitis
Lymphadenopathy ORPHA:79078
Primary Sjögren Syndrome
Lymphadenopathy ORPHA:289390
Systemic Lupus Erythematosus
Lymphadenopathy ORPHA:536
Igg4-Related Ophthalmic Disease
Lymphadenopathy ORPHA:449563

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 Nnat

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 Nnat.

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

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Nnatem1(IMPC)Mbp Whole-gene deletion Mice, Tissue
Nnattm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Nnattm44045(L1L2_st0) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Nnattm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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