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Gene: Ikbke MGI:1929612

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Gene Summary

Name:
inhibitor of kappaB kinase epsilon
Synonyms:
IKKepsilon,  IKK-i

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.

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Viewing: all phenotypes
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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.

Phenotype associated images not available

Human diseases caused by Ikbke 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 Ikbke by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Pulmonary Blastoma
Pleuropulmonary blastoma, Dyspnea, Recurrent pneumonia, Weight loss, Cough ORPHA:64741
Short Stature Due To Ghsr Deficiency
Decreased serum insulin-like growth factor 1, Hypoglycemia, Abnormality of body weight, Decreased... ORPHA:314811
Immunodeficiency 51
Recurrent respiratory infections, Recurrent skin infections, Eczema, Pneumonia, Pustule, Chronic ... OMIM:613953
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemia, Hyperinsulinemia, Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperin... OMIM:610021
Immunodeficiency 53
Recurrent urinary tract infections, Skin rash, Asthma, Recurrent upper respiratory tract infectio... OMIM:617585
Hyperinsulinemic Hypoglycemia, Familial, 2
Large for gestational age, Pancreatic islet-cell hyperplasia, Hypoglycemia, Hyperinsulinemic hypo... OMIM:601820
Short Stature Due To Partial Ghr Deficiency
Decreased serum insulin-like growth factor 1, Hypoglycemia, Delayed puberty ORPHA:314802
Type 2 Diabetes Mellitus
Increased waist to hip ratio, Insulin resistance, Type II diabetes mellitus OMIM:125853
Idiopathic Achalasia
Bronchitis, Wheezing, Weight loss, Cough, Recurrent aspiration pneumonia ORPHA:930
Tuberculosis
Cough, Abnormal lung morphology, Weight loss ORPHA:3389
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Hypoglycemia, Large for gestational age, Obesity, Truncal obesity, Fasting hypoglycemia, Hypoinsu... OMIM:240900
Isolated Growth Hormone Deficiency, Type Ia
Decreased serum insulin-like growth factor 1, Reduced circulating growth hormone concentration, H... OMIM:262400
Hyperinsulinism Due To Insr Deficiency
Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Recurrent hypoglycemia, Hyperinsuline... ORPHA:263458
Young Syndrome
Recurrent sinopulmonary infections, Congenital pulmonary airway malformation, Bronchiectasis, Rec... OMIM:279000
Immunodeficiency 104
Pneumonia, Eczema, Recurrent opportunistic infections, Chronic mucocutaneous candidiasis, Failure... OMIM:608971
Idiopathic Bronchiectasis
Cachexia, Crackles, Respiratory tract infection, Dyspnea, Wheezing, Productive cough, Emphysema, ... ORPHA:60033
Ciliary Dyskinesia, Primary, 44
Neonatal respiratory distress, Reduced forced expiratory volume in one second, Reduced forced vit... OMIM:618781
Immunodeficiency 48
Recurrent respiratory infections, Failure to thrive, Pneumonia, Recurrent candida infections, Ecz... OMIM:269840
Mucus Inspissation Of Respiratory Tract
Recurrent respiratory infections, Atelectasis, Chronic pulmonary obstruction, Bronchiectasis, Chr... OMIM:253240
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Elevated circulating thyroid-stimulating hormone concentration, Obesity, Abnormal circulating ins... ORPHA:171706
Ciliary Dyskinesia, Primary, 21
Neonatal respiratory distress, Atelectasis, Recurrent pneumonia, Bronchiectasis, Decreased nasal ... OMIM:615294
Akt2-Related Familial Partial Lipodystrophy
Insulin resistance, Insulin-resistant diabetes mellitus, Decreased adiponectin level, Decreased s... ORPHA:79085
Insulin Autoimmune Syndrome
Nonketotic hypoglycemia, Reactive hypoglycemia, Insulin-resistant diabetes mellitus, Insulin resi... ORPHA:411593
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Pneumonia, Purulent rhinitis, Recurrent opportunistic infections, Arthritis, Conjunctivitis, Fail... OMIM:601457
Maturity-Onset Diabetes Of The Young, Type 3
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young OMIM:600496
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency
Tegumentary leishmaniasis susceptibility, Pneumonia, Lymphadenitis, Recurrent mycobacterial infec... ORPHA:319552
Isolated Congenital Hypoglossia/Aglossia
Respiratory distress, Dyspnea, Upper airway obstruction, Weight loss, Aspiration pneumonia ORPHA:141152
Cd8 Deficiency, Familial
Recurrent respiratory infections, Recurrent bacterial infections, Bronchiectasis, Recurrent viral... OMIM:608957
Ciliary Dyskinesia, Primary, 9
Neonatal respiratory distress, Pneumonia, Decreased nasal nitric oxide, Bronchiectasis, Chronic r... OMIM:612444
Mounier-Kühn Syndrome
Recurrent respiratory infections, Recurrent bronchopulmonary infections, Pneumonia, Bronchitis ORPHA:3347
Ciliary Dyskinesia, Primary, 33
Atelectasis, Recurrent pneumonia, Bronchiectasis, Chronic rhinitis, Cough, Recurrent otitis media... OMIM:616726
Complement Factor B Deficiency
Pneumonia, Peritonitis, Recurrent bacterial infections, Meningitis, Recurrent meningococcal disease OMIM:615561
Ciliary Dyskinesia, Primary, 42
Pneumonia, Reduced forced vital capacity, Chronic pulmonary obstruction, Bronchiectasis, Respirat... OMIM:618695
Congenital Glucokinase-Related Hyperinsulinism
Fasting hyperinsulinemia, Recurrent hypoglycemia, Type II diabetes mellitus, Hyperinsulinemic hyp... ORPHA:79299
Ciliary Dyskinesia, Primary, 23
Neonatal respiratory distress, Productive cough, Recurrent pneumonia, Bronchiectasis, Respiratory... OMIM:615451
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency
Hypoglycemia ORPHA:35701
Maturity-Onset Diabetes Of The Young, Type 10
Diabetic ketoacidosis, Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young OMIM:613370
Combined Immunodeficiency, X-Linked
Sinusitis, Recurrent bronchitis, Pneumonia, Otitis media OMIM:312863
Lipodystrophy, Familial Partial, Type 5
Diabetic ketoacidosis, Decreased adiponectin level, Decreased serum leptin OMIM:615238
Pituitary Hormone Deficiency, Combined, 4
Hypothyroidism, Adrenal insufficiency, Impaired growth-hormone response to insulin stimulation te... OMIM:262700
Body Mass Index Quantitative Trait Locus 19
Insulin resistance, Hyperinsulinemia, Obesity, Increased serum leptin OMIM:617885
Ciliary Dyskinesia, Primary, 46
Reduced forced expiratory volume in one second, Reduced forced vital capacity, Recurrent pneumoni... OMIM:619436
Ciliary Dyskinesia, Primary, 39
Decreased nasal nitric oxide, Bronchiectasis, Cough, Recurrent otitis media, Recurrent lower resp... OMIM:618254
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
Atopic dermatitis, Recurrent upper respiratory tract infections, Pneumonia OMIM:618806
Bronchiolitis Obliterans With Obstructive Pulmonary Disease
Pneumonia, Reduced forced expiratory volume in one second, Respiratory tract infection, Dyspnea, ... ORPHA:1303
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Respiratory tract infection, Nonproductive cough, Dyspnea, Chronic pulmonary obstruction, Hyperse... ORPHA:79127
Ciliary Dyskinesia, Primary, 3
Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ... OMIM:608644
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Ciliary Dyskinesia, Primary, 27
Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ... OMIM:615504
Glucocorticoid Deficiency 2
Decreased circulating cortisol level, Increased circulating ACTH level, Recurrent hypoglycemia OMIM:607398
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Nonketotic hypoglycemia, Large for gestational age, Abnormal circulating insulin concentration, H... ORPHA:293964
Ciliary Dyskinesia, Primary, 41
Recurrent otitis media, Impaired nasal mucociliary clearance, Bronchiectasis, Recurrent sinusitis OMIM:618449
Bronchiectasis With Or Without Elevated Sweat Chloride 3
Bronchiectasis, Chronic bronchitis OMIM:613071
Bronchiectasis With Or Without Elevated Sweat Chloride 1
Bronchiectasis, Chronic bronchitis OMIM:211400
Bronchiectasis With Or Without Elevated Sweat Chloride 2
Bronchiectasis, Chronic bronchitis OMIM:613021
Tracheobronchomegaly
Recurrent bronchopulmonary infections, Bronchiectasis OMIM:275300
Ciliary Dyskinesia, Primary, 29
Recurrent respiratory infections, Atelectasis, Decreased nasal nitric oxide, Bronchiectasis, Cili... OMIM:615872
Hypoglycemia, Leucine-Induced
Hypoglycemia, Hyperinsulinemic hypoglycemia OMIM:240800
Immunodeficiency 11B With Atopic Dermatitis
Pneumonia, Asthma, Atopic dermatitis, Bronchiectasis, Ulcerative colitis, Severe cytomegalovirus ... OMIM:617638
Allergic Bronchopulmonary Aspergillosis
Asthma, Bronchiectasis, Respiratory insufficiency, Weight loss, Cough, Pulmonary arterial hyperte... ORPHA:1164
Ciliary Dyskinesia, Primary, 36, X-Linked
Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ... OMIM:300991
Glycogen Storage Disease 0, Liver
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia OMIM:240600
Homozygous 11P15-P14 Deletion Syndrome
Failure to thrive, Hyperinsulinemia, Hypoglycemia OMIM:606528
Activated Pi3K-Delta Syndrome
Pneumonia, Severe varicella zoster infection, Recurrent tonsillitis, Bronchiectasis, Severe cytom... ORPHA:397596
Scedosporiosis
Sinusitis, Bronchitis, Sepsis, Pulmonary tuberculosis, Cough, Unusual skin infection, Fungal meni... ORPHA:449280
Pulmonary Non-Tuberculous Mycobacterial Infection
Respiratory distress, Crackles, Mycobacterium abscessus abscessus infection, Dyspnea, Chronic pul... ORPHA:411703
Combined Immunodeficiency Due To Dock8 Deficiency
Recurrent respiratory infections, Recurrent bacterial skin infections, Pneumonia, Recurrent viral... ORPHA:217390
Pneumocystosis
Multiple pulmonary cysts, Respiratory failure requiring assisted ventilation, Pneumocystis jirove... ORPHA:723
Ciliary Dyskinesia, Primary, 28
Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ... OMIM:615505
Ciliary Dyskinesia, Primary, 7
Recurrent pneumonia, Decreased nasal nitric oxide, Bronchiectasis, Restrictive ventilatory defect... OMIM:611884
Chronic Beryllium Disease
Lymphocytic interstitial pneumonia, Dyspnea, Hypersensitivity pneumonitis, Abnormality on pulmona... ORPHA:133
Pituitary Hormone Deficiency, Combined, 2
Decreased thyroid-stimulating hormone level, Reduced circulating prolactin concentration, Neonata... OMIM:262600
Ciliary Dyskinesia, Primary, 24
Neonatal respiratory distress, Chronic pulmonary obstruction, Decreased nasal nitric oxide, Bronc... OMIM:615481
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone
Hypoglycemia OMIM:223500
Immunodeficiency 56
Recurrent respiratory infections, Pneumocystis jirovecii pneumonia, Cholangitis, Recurrent pneumo... OMIM:615207
Lipe-Related Familial Partial Lipodystrophy
Insulin resistance, Insulin-resistant diabetes mellitus, Decreased adiponectin level, Decreased s... ORPHA:435660
Cidec-Related Familial Partial Lipodystrophy
Insulin-resistant diabetes mellitus, Decreased adiponectin level, Decreased serum leptin ORPHA:435651
Ciliary Dyskinesia, Primary, 48, Without Situs Inversus
Recurrent otitis media, Recurrent pneumonia, Bronchiectasis, Recurrent sinusitis OMIM:620032
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Respiratory distress, Recurrent respiratory infections, Abnormal mucociliary clearance, Atelectas... OMIM:619466
Obesity Due To Congenital Leptin Deficiency
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... ORPHA:66628
Immunodeficiency 65, Susceptibility To Viral Infections
Stomatitis, Bronchiectasis, Recurrent gastroenteritis, Recurrent viral infections OMIM:618648
Fructose And Galactose Intolerance
Hypoglycemia OMIM:229500
Pleural Mesothelioma
Respiratory distress, Abnormal pleura morphology, Dyspnea, Abnormal lung morphology, Abnormal res... ORPHA:50251
Leptin Deficiency Or Dysfunction
Hypogonadism, Obesity, Decreased serum leptin OMIM:614962
Hyperinsulinism Due To Hnf1A Deficiency
Small for gestational age, Ketotic hypoglycemia, Maturity-onset diabetes of the young, Maternal d... ORPHA:324575
Ciliary Dyskinesia, Primary, 11
Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ... OMIM:612649
Obesity Due To Leptin Receptor Gene Deficiency
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... ORPHA:179494
Immunodeficiency 52
Persistent CMV viremia, Recurrent pneumonia, Bronchiectasis, Recurrent infections, Persistent EBV... OMIM:617514
Muscular Hypertonia, Lethal
Respiratory distress, Pneumonia OMIM:254120
Severe Combined Immunodeficiency, X-Linked
Skin rash, Pneumonia, Recurrent bacterial meningitis, Recurrent pneumonia, Recurrent fungal infec... OMIM:300400
Ciliary Dyskinesia, Primary, 45
Immotile cilia, Recurrent respiratory infections, Bronchiectasis, Chronic rhinitis OMIM:618801
Ciliary Dyskinesia, Primary, 32
Recurrent respiratory infections, Neonatal respiratory distress, Chronic pulmonary obstruction, B... OMIM:616481
Isolated Agammaglobulinemia
Recurrent cutaneous abscess formation, Recurrent respiratory infections, Sinusitis, Skin rash, Pn... ORPHA:229717
Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome
Failure to thrive, Aspiration pneumonia OMIM:609528
Ciliary Dyskinesia, Primary, 26
Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ... OMIM:615500
Familial Nasal Acilia
Respiratory distress, Dyspnea, Atelectasis, Recurrent upper respiratory tract infections, Bronchi... ORPHA:922
Ciliary Dyskinesia, Primary, 25
Recurrent respiratory infections, Neonatal respiratory distress, Productive cough, Chronic pulmon... OMIM:615482
Reticular Dysgenesis
Recurrent respiratory infections, Skin rash, Sepsis, Weight loss, Chronic otitis media, Failure t... ORPHA:33355
Pulmonary Alveolar Proteinosis, Acquired
Recurrent respiratory infections, Brain abscess, Lung abscess, Pneumonia, Dyspnea, Intraalveolar ... OMIM:610910
T-Cell Immunodeficiency With Thymic Aplasia
Sinusitis, Sepsis, Recurrent candida infections, Chronic otitis media, Opportunistic infection, M... ORPHA:83471
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Chronic oral candidiasis, Recurrent herpes, Pneumonia, Recurrent pneumonia, Hepatitis, Recurrent ... ORPHA:169160
Hyperinsulinemic Hypoglycemia, Familial, 8
Hypoglycemia, Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, H... OMIM:620211
Mantle Cell Lymphoma
Weight loss ORPHA:52416
Hyperinsulinism-Hyperammonemia Syndrome
Fasting hyperinsulinemia, Reactive hypoglycemia, Hyperinsulinemic hypoglycemia ORPHA:35878
Surfactant Metabolism Dysfunction, Pulmonary, 2
Respiratory distress, Reduced forced vital capacity, Tachypnea, Cough, Decreased DLCO, Bronchiect... OMIM:610913
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Impaired gluconeogenesis, Hypoglycemia OMIM:261650
Caspase 8 Deficiency
Recurrent sinopulmonary infections, Recurrent herpes, Pneumonia, Eczema, Asthma, Failure to thrive OMIM:607271
Bullous Pemphigoid
Psoriasiform dermatitis, Recurrent infections, Eczema, Weight loss ORPHA:703
Ciliary Dyskinesia, Primary, 5
Recurrent respiratory infections, Neonatal respiratory distress, Recurrent pneumonia, Bronchiecta... OMIM:608647
Pituitary Hormone Deficiency, Combined, 6
Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Hypoglycemia, Decreased... OMIM:613986
Ciliary Dyskinesia, Primary, 17
Recurrent respiratory infections, Bronchiectasis, Chronic rhinitis, Cough, Recurrent otitis media... OMIM:614679
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Chronic gastritis, Recurrent herpes, Cholangitis, Bronchitis, Sepsis, Pulmonary tuberculosis, Cho... ORPHA:183675
Tracheobronchopathia Osteochondroplastica
Recurrent respiratory infections, Pneumonia, Bronchitis, Productive cough, Atelectasis, Wheezing,... ORPHA:3348
Glucocorticoid Deficiency 1
Decreased circulating cortisol level, Abnormal circulating renin, Increased circulating ACTH leve... OMIM:202200
Multicentric Reticulohistiocytosis
Arthritis, Cachexia ORPHA:139436
Immunodeficiency, Common Variable, 1
Pneumonia, Recurrent pneumonia, Bronchiectasis, Recurrent bacterial infections, Conjunctivitis, R... OMIM:607594
Immunodeficiency, Common Variable, 12, With Autoimmunity
Recurrent sinopulmonary infections, Atrophic gastritis, Recurrent skin infections, Chronic pulmon... OMIM:616576
Ciliary Dyskinesia, Primary, 35
Neonatal respiratory distress, Productive cough, Recurrent pneumonia, Decreased nasal nitric oxid... OMIM:617092
Immunodeficiency 110 With Lymphoproliferation
Recurrent skin infections, Recurrent viral infections, Recurrent upper respiratory tract infectio... OMIM:614868
Immunodeficiency 75 With Lymphoproliferation
Recurrent respiratory infections, Bronchiectasis, Persistent EBV viremia OMIM:619126
Ciliary Dyskinesia, Primary, 34
Neonatal respiratory distress, Reduced respiratory ciliary beating frequency, Decreased nasal nit... OMIM:617091
Interstitial Lung Disease 1
Nonspecific interstitial pneumonia, Crackles, Intralobular septal thickening, Cough, Dyspnea, Res... OMIM:619611
Ciliary Dyskinesia, Primary, 43
Neonatal respiratory distress, Productive cough, Recurrent upper respiratory tract infections, Br... OMIM:618699
Bare Lymphocyte Syndrome, Type I
Bronchiectasis, Bronchiolitis, Emphysema, Chronic sinusitis, Chronic otitis media, Recurrent bron... OMIM:604571
Neonatal Alloimmune Neutropenia
Severe infection, Sepsis, Meningitis, Pneumonia ORPHA:464370
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Reactive hypoglycemia, Hyperinsulinemia, Increased body weight, Pancreatic islet-cell hyperplasia... ORPHA:276608
Facioscapulohumeral Muscular Dystrophy 3, Digenic
Aspiration pneumonia OMIM:619477
Felty Syndrome
Episcleritis, Recurrent respiratory infections, Pericarditis, Sinusitis, Recurrent urinary tract ... ORPHA:47612
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Small for gestational age, Hypoglycemia, Precocious puberty, Insulin-resistant diabetes mellitus,... OMIM:262190
Ciliary Dyskinesia, Primary, 15
Recurrent respiratory infections, Neonatal respiratory distress, Chronic bronchitis, Wheezing, Re... OMIM:613808
Hereditary Pulmonary Alveolar Proteinosis
Respiratory distress, Respiratory failure requiring assisted ventilation, Failure to thrive in in... ORPHA:264675
Immunodeficiency 77
Nontuberculous mycobacterial pulmonary infection, Recurrent tonsillitis, Chronic pulmonary obstru... OMIM:619223
Immunodeficiency With Hyper-Igm, Type 4
Osteomyelitis, Recurrent upper respiratory tract infections, Bronchiectasis, Recurrent bacterial ... OMIM:608184
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Recurrent respiratory infections, Persistent CMV viremia, Recurrent viral infections, Severe vari... OMIM:300853
Lymphoid Interstitial Pneumonia
Multiple pulmonary cysts, Skin rash, Eczema, Crackles, Respiratory tract infection, Dyspnea, Whee... ORPHA:79128
Ciliary Dyskinesia, Primary, 12
Recurrent respiratory infections, Neonatal respiratory distress, Chronic pulmonary obstruction, B... OMIM:612650
Immunodeficiency 32B
Recurrent respiratory infections, Sinusitis, Pneumonia, Bronchiectasis, BCGitis, Recurrent infect... OMIM:226990
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Decreased circulating cortisol level, Hypoglycemia, Precocious puberty, Abnormal circulating reni... OMIM:614736
Insulin-Resistance Syndrome Type B
Abnormality of body weight, Abnormal circulating leptin concentration, Insulin-resistant diabetes... ORPHA:2298
Pemphigus Vulgaris
Recurrent cutaneous abscess formation, Recurrent infections, Weight loss ORPHA:704
Progressive Nodular Histiocytosis
Cachexia ORPHA:158022
Idiopathic Pulmonary Fibrosis
Crackles, Bronchiectasis, Abnormal pulmonary interstitial morphology, Honeycomb lung, Pulmonary f... ORPHA:2032
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypoglycemia ORPHA:366
Blue Diaper Syndrome
Elevated circulating thyroid-stimulating hormone concentration, Increased body weight, Increased ... ORPHA:94086
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive
Respiratory distress, Failure to thrive, Lymphocytic interstitial pneumonia OMIM:245590
Combined Immunodeficiency Due To Zap70 Deficiency
Recurrent bacterial skin infections, Skin rash, Pneumonia, Recurrent viral infections, Lymphadeni... ORPHA:911
Microlissencephaly
Pneumonia ORPHA:1083
Ciliary Dyskinesia, Primary, 13
Bronchiectasis, Immotile cilia, Recurrent sinusitis, Recurrent otitis media, Ciliary dyskinesia, ... OMIM:613193
Inflammatory Bowel Disease (Crohn Disease) 1
Ulcerative colitis, Weight loss, Inflammation of the large intestine, Recurrent aphthous stomatit... OMIM:266600
Ciliary Dyskinesia, Primary, 19
Recurrent respiratory infections, Bronchiectasis, Immotile cilia, Rhinitis, Respiratory insuffici... OMIM:614935
Retinal Dystrophy And Microvillus Inclusion Disease
Recurrent lower respiratory tract infections, Recurrent upper respiratory tract infections, Bronc... OMIM:619446
Proprotein Convertase 1/3 Deficiency
Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Reactive hypoglycemia, Obesi... OMIM:600955
Pfapa Syndrome
Recurrent pharyngitis, Infectious encephalitis, Arthritis, Weight loss ORPHA:42642
Combined Oxidative Phosphorylation Deficiency 51
Neonatal respiratory distress, Small for gestational age, Respiratory failure, Aspiration pneumonia OMIM:619057
Glucocorticoid Resistance, Generalized
Hypoglycemia, Increased circulating ACTH level, Increased circulating cortisol level, Increased s... OMIM:615962
Immunodeficiency 57 With Autoinflammation
Recurrent respiratory infections, Skin rash, Gastritis, Perianal abscess, Bronchiectasis, Inflamm... OMIM:618108
Ciliary Dyskinesia, Primary, 30
Recurrent respiratory infections, Chronic bronchitis, Asthma, Bronchiectasis, Respiratory insuffi... OMIM:616037
Glycogen Storage Disease Vi
Failure to thrive in infancy, Hypoglycemia OMIM:232700
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Glomerulonephritis, Pneumonia OMIM:247800
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Recurrent urinary tract infections, Sinusitis, Enteroviral dermatomyositis syndrome, Pneumonia, R... OMIM:307200
Autosomal Agammaglobulinemia
Recurrent respiratory infections, Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections,... ORPHA:33110
Combined Oxidative Phosphorylation Deficiency 34
Hypergonadotropic hypogonadism, Hypoglycemia, Elevated circulating thyroid-stimulating hormone co... OMIM:617872
Immunodeficiency 13
Recurrent shingles, Recurrent upper respiratory tract infections, Bronchiolitis obliterans organi... OMIM:615518
X-Linked Agammaglobulinemia
Recurrent cutaneous abscess formation, Sinusitis, Osteomyelitis, Skin rash, Abnormal lung morphol... ORPHA:47
Ciliary Dyskinesia, Primary, 14
Recurrent respiratory infections, Neonatal respiratory distress, Chronic bronchitis, Wheezing, Re... OMIM:613807
Infant Acute Respiratory Distress Syndrome
Pneumonia, Respiratory tract infection, Atelectasis, Nasal flaring, Tachypnea, Sepsis, Hypoxemia,... ORPHA:70587
Progressive Microcephaly-Seizures-Cortical Blindness-Developmental Delay Syndrome
Recurrent infections, Bronchiectasis, Decreased body weight ORPHA:477814
Laryngeal Neuroendocrine Tumor
Exertional dyspnea, Weight loss ORPHA:100083
Inflammatory Bowel Disease 11
Inflammation of the large intestine, Weight loss OMIM:191390
Undifferentiated Pleomorphic Sarcoma
Weight loss ORPHA:2023
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Herpes simplex encephalitis, Bronchiectasis, Recurrent infections, Recurrent otitis media, Mollus... OMIM:618982
Focal Myositis
Myositis, Weight loss ORPHA:48918
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy
Cachexia ORPHA:1216
Aspergillosis
Sinusitis, Cough, Meningitis, Infectious encephalitis, Chronic pulmonary obstruction, Bronchiecta... ORPHA:1163
Rigid Spine Syndrome
Abnormality on pulmonary function testing, Pneumonia, Respiratory insufficiency ORPHA:97244
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Recurrent sinopulmonary infections, Eczema, Eosinophilic infiltration of the esophagus, Recurrent... OMIM:243700
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Recurrent bacterial skin infections, Recurrent herpes, Skin rash, Pneumonia, Cough, Severe recurr... ORPHA:276
Follicular Lymphoma
Pleural effusion, Meningitis, Weight loss ORPHA:545
Laryngeal Abductor Paralysis-Intellectual Disability Syndrome
Neonatal asphyxia, Bronchiectasis, Congenital laryngeal stridor ORPHA:2375
Acute Myelomonocytic Leukemia
Dyspnea, Weight loss ORPHA:517
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Elevated circulating growth hormone concentration, Large for gestational age, Neonatal hypoglycem... ORPHA:79644
Alpha-1-Antitrypsin Deficiency
Chronic bronchitis, Dyspnea, Wheezing, Chronic pulmonary obstruction, Panacinar emphysema, Bronch... OMIM:613490
Ciliary Dyskinesia, Primary, 22
Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ... OMIM:615444
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Recurrent oral herpes, Persistent CMV viremia, Bronchiectasis, Recurrent otitis media, Recurrent ... OMIM:619220
C1Q Deficiency 2
Chilblains, Discoid lupus rash, Atelectasis, Bronchiectasis, Sepsis, Arthritis, Recurrent otitis ... OMIM:620321
T-Cell Immunodeficiency With Thymic Aplasia
Recurrent viral infections, Recurrent bronchopulmonary infections, Recurrent pneumonia, Bronchiec... OMIM:242700
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature
Recurrent lower respiratory tract infections, Recurrent upper respiratory tract infections, Bronc... OMIM:615139
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Recurrent respiratory infections, Recurrent sinopulmonary infections, Bronchiectasis, Recurrent e... OMIM:615513
Ciliary Dyskinesia, Primary, 16
Bronchiectasis, Abnormal ciliary motility, Chronic rhinitis, Chronic otitis media, Ciliary dyskin... OMIM:614017
Chronic Hiccup
Weight loss ORPHA:396
Cryptogenic Organizing Pneumonia
Respiratory distress, Bronchial breath sound, Crackles, Nonproductive cough, Dyspnea, Wheezing, P... ORPHA:1302
Immunodeficiency 62
Recurrent herpes, Severe recurrent varicella, Recurrent upper respiratory tract infections, Bronc... OMIM:618459
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Respiratory distress, Failure to thrive, Cachexia, Weight loss OMIM:612075
Idiopathic Chronic Eosinophilic Pneumonia
Crackles, Nonproductive cough, Atelectasis, Dyspnea, Wheezing, Asthma, Hypersensitivity pneumonit... ORPHA:2902
Melioidosis
Foot osteomyelitis, Brain abscess, Lung abscess, Unusual skin infection, Pneumonia, Respiratory t... ORPHA:31202
Congenital Disorder Of Glycosylation, Type Iic
Bronchiolitis, Recurrent otitis media, Periodontitis, Pneumonia OMIM:266265
Intestinal Dysmotility Syndrome
Failure to thrive, Weight loss OMIM:620045
Immunodeficiency, Common Variable, 2
Recurrent pneumonia, Bronchiectasis, Recurrent bacterial infections, Conjunctivitis, Recurrent si... OMIM:240500
Huntington Disease-Like 2
Weight loss ORPHA:98934
Isaacs Syndrome
Weight loss ORPHA:84142
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Pneumocystis jirovecii pneumonia, Pneumonia, Recurrent upper respiratory tract infections, Recurr... OMIM:614069
Mody
Large for gestational age, Overweight, Transient neonatal diabetes mellitus, Insulin-resistant di... ORPHA:552
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Recurrent respiratory infections, Osteomyelitis, Recurrent skin infections, Eczema, Recurrent pne... OMIM:618282
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Recurrent respiratory infections, Cachexia ORPHA:1389
Staphylococcal Necrotizing Pneumonia
Respiratory distress, Pneumonia, Nonproductive cough, Dyspnea, Tachypnea, Pneumothorax, Sepsis, S... ORPHA:36238
Acute Lung Injury
Respiratory distress, Acute pancreatitis, Pneumonia, Diffuse alveolar hemorrhage, Dyspnea, Tachyp... ORPHA:178320
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome
Cachexia ORPHA:1144
Whim Syndrome 1
Recurrent bacterial infections, Recurrent upper respiratory tract infections, Bronchiectasis OMIM:193670
Infantile Osteopetrosis With Neuroaxonal Dysplasia
Pneumonia ORPHA:85179
Immunodeficiency, Common Variable, 8, With Autoimmunity
Recurrent respiratory infections, Atrophic gastritis, Pneumonia, Erythema nodosum, Asthma, Recurr... OMIM:614700
Generalized Pseudohypoaldosteronism Type 1
Osteomyelitis, Failure to thrive in infancy, Pustule, Wheezing, Recurrent tonsillitis, Atopic der... ORPHA:171876
Severe Acute Respiratory Syndrome
Respiratory distress, Respiratory failure requiring assisted ventilation, Dyspnea, Hypoxemia, Acu... ORPHA:140896
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Respiratory failure requiring assisted ventilation, Dyspnea, Respiratory failure, Aspiration pneu... ORPHA:90117
Panbronchiolitis, Diffuse
Crackles, Rhonchi, Wheezing, Bronchiectasis, Hypoxemia, Cough OMIM:604809
Mulibrey Nanism
Cachexia ORPHA:2576
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Atrophic gastritis, Psoriasiform dermatitis, Eczema, Pneumonia, Recurrent upper respiratory tract... ORPHA:436159
Selective Igm Deficiency
Fasciitis, Recurrent herpes, Recurrent staphylococcal infections, Lymphadenitis, Severe varicella... ORPHA:331235
Ciliary Dyskinesia, Primary, 38
Neonatal respiratory distress, Productive cough, Decreased nasal nitric oxide, Bronchiectasis, Im... OMIM:618063
Tularemia
Respiratory distress, Brain abscess, Skin rash, Pneumonia, Erythema nodosum, Meningitis, Conjunct... ORPHA:3392
Acth Deficiency, Isolated
Decreased circulating cortisol level, Fasting hypoglycemia, Adrenocorticotropic hormone deficienc... OMIM:201400
Yao Syndrome
Inflammatory abnormality of the skin, Pericarditis, Skin rash, Asthma, Weight loss, Arthritis, Ke... OMIM:617321
Immunodeficiency 58
Colitis, Chronic otitis media, Recurrent cutaneous abscess formation, Chronic pulmonary obstructi... OMIM:618131
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Recurrent respiratory infections, Decreased nasal nitric oxide, Bronchiectasis, Chronic cough, Re... OMIM:620197
Surfactant Metabolism Dysfunction, Pulmonary, 3
Respiratory distress, Apnea, Crazy paving pattern, Nodular pattern on pulmonary HRCT, Tachypnea, ... OMIM:610921
Polyendocrine-Polyneuropathy Syndrome
Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Hypoglycemia, Decreased circulating... ORPHA:453533
Adult Acute Respiratory Distress Syndrome
Pneumonia, Dyspnea, Sepsis, Hypoxemia, Respiratory failure, Abnormal blood gas level, Pancreatiti... ORPHA:70578
Autosomal Dominant Severe Congenital Neutropenia
Recurrent sinopulmonary infections, Recurrent skin infections, Pneumonia, Recurrent ear infection... ORPHA:486
Post-Traumatic Pituitary Deficiency
Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Hypoglycemi... ORPHA:95619
Drug Reaction With Eosinophilia And Systemic Symptoms
Skin rash, Pustule, Dyspnea, Myocarditis, Hepatitis, Erythroderma, Weight loss, Thyroiditis, Tubu... ORPHA:139402
3-Methylcrotonyl-Coa Carboxylase Deficiency
Failure to thrive in infancy, Hypoglycemia ORPHA:6
Immunodeficiency 27A
Increased inflammatory response, Abnormal bronchus physiology, Pneumonia, Weight loss, Salmonella... OMIM:209950
Sarcoidosis, Susceptibility To, 2
Erythema nodosum, Dyspnea, Pneumothorax, Bronchiectasis, Uveitis, Abnormal pulmonary interstitial... OMIM:612387
Agammaglobulinemia 1, Autosomal Recessive
Recurrent respiratory infections, Recurrent pneumonia, Bronchiectasis, Recurrent bacterial infect... OMIM:601495
Oculopharyngodistal Myopathy
Respiratory insufficiency due to muscle weakness, Restrictive ventilatory defect, Recurrent aspir... ORPHA:98897
Immunodeficiency 12
Skin rash, Recurrent viral infections, Cheilitis, Bronchiectasis, Recurrent bacterial infections,... OMIM:615468
Purine Nucleoside Phosphorylase Deficiency
Recurrent urinary tract infections, Sinusitis, Pneumonia, Recurrent viral infections, Recurrent o... OMIM:613179
Galactose Epimerase Deficiency
Weight loss ORPHA:79238
Pseudomyxoma Peritonei
Inflammation of the large intestine, Respiratory insufficiency, Weight loss ORPHA:26790
X-Linked Centronuclear Myopathy
Respiratory distress, Respiratory failure requiring assisted ventilation, Recurrent respiratory i... ORPHA:596
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Insulin resistance, Diabetes mellitus, Decreased adiponectin level, Decreased serum leptin ORPHA:280365
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Slender build, Cachexia, Weight loss OMIM:613662
Ciliary Dyskinesia, Primary, 2
Respiratory distress, Recurrent respiratory infections, Sinusitis, Bronchiectasis, Immotile cilia... OMIM:606763
Nocardiosis
Respiratory distress, Lymphadenitis, Nonproductive cough, Sepsis, Conjunctivitis, Emphysema, Infe... ORPHA:31204
Ciliary Dyskinesia, Primary, 1
Pneumonia, Atelectasis, Bronchiectasis, Immotile cilia, Chronic rhinitis, Chronic otitis media, C... OMIM:244400
Combined Immunodeficiency Due To Crac Channel Dysfunction
Pneumonia, Recurrent viral infections, Recurrent mycobacterial infections, Sepsis, Recurrent bact... ORPHA:169090
Pituitary Stalk Interruption Syndrome
Ectopic posterior pituitary, Failure to thrive, Hypoglycemia, Adrenal hypoplasia, Hypothyroidism,... ORPHA:95496
Hirschsprung Disease
Failure to thrive in infancy, Sepsis, Weight loss ORPHA:388
Diencephalic Syndrome
Cachexia, Decreased body weight ORPHA:1672
Pyomyositis
Recurrent cutaneous abscess formation, Myositis, Sepsis, Recurrent infections, Weight loss ORPHA:764
Fusariosis
Brain abscess, Fasciitis, Sinusitis, Maculopapular exanthema, Myositis, Pneumonia, Productive cou... ORPHA:228119
Diffuse Alveolar Hemorrhage
Respiratory failure requiring assisted ventilation, Dyspnea, Increased DLCO, Weight loss, Hypoxem... ORPHA:90060
Avian Influenza
Respiratory distress, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Tachypnea, Pneum... ORPHA:454836
Perry Syndrome
Central hypoventilation, Weight loss ORPHA:178509
Malignant Peritoneal Mesothelioma
Dyspnea, Peritonitis, Weight loss ORPHA:168811
Anaplastic Thyroid Carcinoma
Respiratory distress, Dyspnea, Upper airway obstruction, Weight loss, Stridor, Neoplasm of the lu... ORPHA:142
Rat-Bite Fever
Pericarditis, Maculopapular exanthema, Skin rash, Erythema nodosum, Lymphadenitis, Pustule, Myoca... ORPHA:31205
Polyendocrine-Polyneuropathy Syndrome
Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Hypoglycemia, Central hypothyroidis... OMIM:616113
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Respiratory distress, Myositis, Sepsis, Tubulointerstitial nephritis, Colitis, Meningitis, Psoria... ORPHA:37042
Eosinophilic Fasciitis
Myositis, Fasciitis, Arthritis, Weight loss ORPHA:3165
Systemic Capillary Leak Syndrome
Pericarditis, Rhinorrhea, Myocarditis, Cardiorespiratory arrest, Weight loss, Cough, Pleural effu... ORPHA:188
Autosomal Dominant Epidermolytic Ichthyosis
Erythroderma, Weight loss ORPHA:312
Bacterial Toxic-Shock Syndrome
Respiratory distress, Fasciitis, Sinusitis, Myositis, Severe varicella zoster infection, Tachypne... ORPHA:36234
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Recurrent pneumonia, Bronchiectasis, Recurrent infections, Recurrent aphthous stomatitis, Chronic... OMIM:150550
Bronchogenic Cyst
Pulmonary cyst, Pneumonia, Abnormal pleura morphology, Chronic infection, Dyspnea, Atelectasis, C... ORPHA:2357
Moynahan Syndrome
Cachexia ORPHA:2574
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Weight loss ORPHA:86893
Omenn Syndrome
Pneumonia, Recurrent viral infections, Recurrent bacterial infections, Recurrent fungal infection... OMIM:603554
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Adrenal hyperplasia, Hypoglycemia, Adrenogenital syndrome OMIM:201910
Majeed Syndrome
Inflammatory abnormality of the skin, Osteomyelitis, Acne, Cachexia, Pustule, Synovitis, Weight l... ORPHA:77297
Graft Versus Host Disease
Fasciitis, Myositis, Maculopapular exanthema, Pneumonia, Inflammatory abnormality of the skin, Ga... ORPHA:39812
Immunodeficiency 31C
Chronic oral candidiasis, Recurrent respiratory infections, Osteomyelitis, Eczema, Coccidioidomyc... OMIM:614162
Riddle Syndrome
Pneumonia, Bronchitis, Recurrent viral infections, Neonatal asphyxia, Recurrent pneumonia, Abnorm... ORPHA:420741
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Weight loss ORPHA:2198
Granulomatosis With Polyangiitis
Episcleritis, Sinusitis, Diffuse alveolar hemorrhage, Keratitis, Localized pulmonary hemorrhage, ... OMIM:608710
Whim Syndrome
Sinusitis, Severe periodontitis, Pneumonia, Respiratory tract infection, Lymphadenitis, Atelectas... ORPHA:51636
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Recurrent sinopulmonary infections, Enterocolitis, Ulcerative colitis, Interstitial pneumonitis, ... OMIM:614878
Cap Polyposis
Atrophic gastritis, Weight loss ORPHA:160148
Microsporidiosis
Myositis, Sinusitis, Cholangitis, Bronchitis, Lymphadenitis, Sepsis, Nephritis, Infectious enceph... ORPHA:2552
Peritoneal Cystic Mesothelioma
Peritonitis, Weight loss ORPHA:168816
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Sinusitis, Pneumonia, Bronchiectasis, Chronic bronchitis, Failure to thrive OMIM:242860
Thymic Carcinoma
Cough, Dyspnea, Weight loss ORPHA:99868
Kaposi Sarcoma
Abnormal lung morphology, Recurrent herpes, Skin rash, Weight loss ORPHA:33276
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Recurrent respiratory infections, Lymphadenitis, Severe varicella zoster infection, Chronic pulmo... OMIM:618986
Common Variable Immunodeficiency
Recurrent respiratory infections, Failure to thrive in infancy, Pneumonia, Bronchiectasis, Restri... ORPHA:1572
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Pneumonia, Recurrent upper respiratory tract infections, Recurrent otitis media, Recurrent lower ... OMIM:600802
Autoimmune Pulmonary Alveolar Proteinosis
Crazy paving pattern, Crackles, Dyspnea, Intraalveolar phospholipid accumulation, Weight loss, Hy... ORPHA:747
Erythrokeratodermia Variabilis
Skin rash, Weight loss ORPHA:317
Immunodeficiency 92
Recurrent oral herpes, Osteomyelitis, Pneumonia, Cholangitis, Persistent CMV viremia, BCGosis, Sc... OMIM:619652
Huntington Disease-Like 2
Weight loss OMIM:606438
Hereditary Central Diabetes Insipidus
Weight loss ORPHA:30925
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Interstitial pneumonitis, Restrictive ventilatory defect, Respiratory failure, Recurrent upper re... OMIM:620296
Congenital Tracheomalacia
Apnea, Tracheobronchomalacia, Cough, Emphysema, Neonatal respiratory distress, Intercostal retrac... ORPHA:95430
Meconium Aspiration Syndrome
Respiratory distress, Neonatal asphyxia, Wheezing, Atelectasis, Pneumothorax, Hypoxemia, Aspirati... ORPHA:70588
Congenital Muscular Dystrophy Due To Lmna Mutation
Respiratory insufficiency, Cachexia ORPHA:157973
Holocarboxylase Synthetase Deficiency
Respiratory distress, Eczema, Tachypnea, Keratoconjunctivitis, Weight loss, Perioral eczema ORPHA:79242
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency
Neonatal respiratory distress, Spontaneous neonatal pneumothorax, Tachypnea, Intraalveolar phosph... ORPHA:217563
Bone Dysplasia, Lethal Holmgren Type
Recurrent respiratory infections, Failure to thrive, Respiratory insufficiency, Weight loss ORPHA:1842
Classic Hodgkin Lymphoma
Cough, Skin rash, Respiratory insufficiency, Weight loss ORPHA:391
Congenital Isolated Acth Deficiency
Decreased circulating cortisol level, Adrenal hypoplasia, Hypoglycemic seizures, Adrenocorticotro... ORPHA:199296
Polyarteritis Nodosa
Abnormal lung morphology, Pleuritis, Pericarditis, Weight loss ORPHA:767
Cleft Velum
Recurrent otitis media, Aspiration pneumonia ORPHA:99772
Combined Oxidative Phosphorylation Deficiency 41
Decreased circulating cortisol level, Hypoglycemia OMIM:618838
Immunodeficiency 40
Respiratory tract infection, Severe varicella zoster infection, Recurrent pneumonia, Interstitial... OMIM:616433
Reactive Arthritis
Pericarditis, Osteomyelitis, Recurrent urinary tract infections, Abnormal pleura morphology, Pust... ORPHA:29207
Slc35A1-Cdg
Respiratory distress, Pneumonia, Pulmonary hemorrhage, Hypoxemia ORPHA:238459
Primary Ciliary Dyskinesia
Recurrent sinopulmonary infections, Neonatal respiratory distress, Peribronchovascular interstiti... ORPHA:244
Postinfectious Vasculitis
Severe varicella zoster infection, Recurrent candida infections, Gastrointestinal inflammation, B... ORPHA:48435
Yellow Nail Syndrome
Recurrent respiratory infections, Sinusitis, Dyspnea, Bronchiectasis, Neoplasm of the lung, Rhini... ORPHA:662
Acute Interstitial Pneumonia
Peribronchovascular interstitial thickening, Nodular pattern on pulmonary HRCT, Crackles, Nonprod... ORPHA:79126
Classic Pantothenate Kinase-Associated Neurodegeneration
Cough, Aspiration pneumonia, Weight loss ORPHA:216866
Takayasu Arteritis
Increased inflammatory response, Weight loss, Arthritis, Pulmonary arterial hypertension, Inflamm... ORPHA:3287
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Psoriasiform dermatitis, Acne, Osteomyelitis, Skin rash, Weight loss, Arthritis, Inflammation of ... ORPHA:324964
Retinitis Pigmentosa 82 With Or Without Situs Inversus
Decreased nasal nitric oxide, Recurrent infections, Bronchiectasis, Productive cough OMIM:615434
Central Diabetes Insipidus
Failure to thrive, Weight loss ORPHA:178029
Deafness-Lymphedema-Leukemia Syndrome
Chronic otitis media, Recurrent respiratory infections, Respiratory failure, Weight loss ORPHA:3226
Hypoadrenocorticism, Familial
Adrenal insufficiency, Adrenal hypoplasia, Hypoglycemia OMIM:240200
Bronchial Neuroendocrine Tumor
Pneumonia, Dyspnea, Nonproductive cough, Asthma, Wheezing, Abnormal pulmonary interstitial morpho... ORPHA:97287
Mu-Heavy Chain Disease
Weight loss ORPHA:100024
Agammaglobulinemia, X-Linked
Recurrent urinary tract infections, Enteroviral dermatomyositis syndrome, Enteroviral hepatitis, ... OMIM:300755
Orthostatic Hypotension 2
Hypoglycemia OMIM:618182
Omenn Syndrome
Pneumonia, Sepsis, Thyroiditis, Erythroderma, Failure to thrive ORPHA:39041
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Pneumonia, Recurrent upper respiratory tract infections, Sepsis, BCGitis, Otitis media, Failure t... OMIM:602450
Sporadic Creutzfeldt-Jakob Disease
Respiratory failure requiring assisted ventilation, Recurrent aspiration pneumonia, Sepsis, Recur... ORPHA:204
Q Fever
Respiratory distress, Pericarditis, Osteomyelitis, Maculopapular exanthema, Pneumonia, Unusual in... ORPHA:781
Mast Cell Sarcoma
Weight loss ORPHA:66661
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Atrophic gastritis, Psoriasiform dermatitis, Eczema, Recurrent upper respiratory tract infections... OMIM:616100
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Inflammatory abnormality of the skin, Sinusitis, Skin rash, Pneumonia, Recurrent viral infections... OMIM:102700
Attrv30M Amyloidosis
Weight loss ORPHA:85447
Bloom Syndrome
Recurrent herpes, Recurrent urinary tract infections, Small for gestational age, Pneumonia, Bronc... ORPHA:125
Pulmonary Alveolar Microlithiasis
Bronchitis, Respiratory tract infection, Nonproductive cough, Dyspnea, Tachypnea, Pleural thicken... ORPHA:60025
Perry Syndrome
Hypoventilation, Central hypoventilation, Respiratory insufficiency, Weight loss, Respiratory arrest OMIM:168605
Nephroblastoma
Neoplasm of the lung, Weight loss ORPHA:654
Hypercalcemia, Infantile, 1
Failure to thrive, Weight loss OMIM:143880
Acquired Central Diabetes Insipidus
Weight loss ORPHA:95626
Mitochondrial Complex I Deficiency, Nuclear Type 33
Small for gestational age, Apnea, Bronchiectasis, Respiratory insufficiency, Aspiration pneumonia OMIM:618253
Eosinophilic Granulomatosis With Polyangiitis
Increased inflammatory response, Myositis, Sinusitis, Recurrent intrapulmonary hemorrhage, Skin r... ORPHA:183
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Crackles, Atelectasis, Dyspnea, Asthma, Wheezing, Bronchiectasis, Abnormal pulmonary interstitial... OMIM:620233
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Recurrent respiratory infections, Failure to thrive in infancy, Recurrent enteroviral infections,... ORPHA:79124
Eosinophilic Gastroenteritis
Asthma, Atopic dermatitis, Allergic rhinitis, Weight loss ORPHA:2070
Timothy Syndrome
Pulmonary arterial hypertension, Pneumonia, Bronchitis, Recurrent infections OMIM:601005
Juvenile Huntington Disease
Weight loss ORPHA:248111
Alexander Disease Type I
Failure to thrive, Cachexia ORPHA:363717
Amoebiasis Due To Entamoeba Histolytica
Lung abscess, Dyspnea, Weight loss, Pleural empyema, Cough, Constrictive pericarditis, Pleural ef... ORPHA:67
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Brain abscess, Abnormal lung morphology, Weight loss ORPHA:54251
Pelizaeus-Merzbacher Disease
Respiratory insufficiency, Failure to thrive in infancy, Recurrent respiratory infections, Cachexia ORPHA:702
Rhabdoid Tumor
Respiratory insufficiency, Weight loss ORPHA:69077
Desmoplastic Small Round Cell Tumor
Neoplasm of the lung, Cachexia, Weight loss ORPHA:83469
Benign Recurrent Intrahepatic Cholestasis
Pancreatitis, Weight loss ORPHA:65682
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Interstitial pneumonitis, Sepsis ORPHA:231154
Polymyositis
Pericarditis, Abnormal pulmonary interstitial morphology, Respiratory insufficiency, Weight loss,... ORPHA:732
Spinocerebellar Ataxia 48
Cachexia OMIM:618093
Ménétrier Disease
Helicobacter pylori infection, Giant hypertrophic gastritis, Weight loss ORPHA:2494
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Glycosuria, Diabetes mellitus, Hypoglycemia, Large for gestational age OMIM:616026
Cystic Fibrosis
Recurrent Aspergillus infections, Recurrent respiratory infections, Sinusitis, Recurrent Burkhold... ORPHA:586
Wilson Disease
Increased body weight, Hepatitis, Weight loss, Arthritis, Acute hepatitis, Failure to thrive ORPHA:905
Leukocyte Adhesion Deficiency
Sinusitis, Severe periodontitis, Recurrent staphylococcal infections, BCGosis, Sepsis, Conjunctiv... ORPHA:2968
Leishmaniasis
Rhinitis, Weight loss ORPHA:507
Subcutaneous Panniculitis-Like T-Cell Lymphoma
Panniculitis, Weight loss ORPHA:86884
Cystic Echinococcosis
Multiple pulmonary cysts, Pulmonary cyst, Invasive parasitic infection, Unusual infection, Asthma... ORPHA:400
Liposarcoma
Weight loss ORPHA:69078
Thymoma
Myositis, Glomerulonephritis, Dyspnea, Ulcerative colitis, Weight loss, Neoplasm of the lung, Neo... ORPHA:99867
Riboflavin Transporter Deficiency
Respiratory insufficiency, Cachexia ORPHA:97229
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Recurrent respiratory infections, Tracheobronchial leiomyomatosis, Keratitis, Dyspnea, Weight los... ORPHA:1018
Nodular Non-Suppurative Panniculitis
Panniculitis, Inflammatory abnormality of the eye, Weight loss ORPHA:33577
Alpha-Mannosidosis, Adult Form
Pneumonia, Recurrent gastroenteritis, Recurrent infections ORPHA:309288
Multiple Endocrine Neoplasia, Type I
Hypoglycemia, Pancreatic islet cell adenoma, Elevated circulating growth hormone concentration, P... OMIM:131100
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3
Pneumonia OMIM:608033
Brucellosis
Bronchitis, Knee osteoarthritis, Infectious encephalitis, Epididymitis, Pneumonia, Arteritis, Ple... ORPHA:1304
Granulomatosis With Polyangiitis
Recurrent respiratory infections, Pericarditis, Sinusitis, Recurrent intrapulmonary hemorrhage, E... ORPHA:900
Laryngotracheoesophageal Cleft Type 4
Respiratory insufficiency, Cachexia ORPHA:93941
Wild Type Attr Amyloidosis
Pleural effusion, Pulmonary edema, Abnormal pulmonary interstitial morphology, Weight loss ORPHA:330001
Pyruvate Dehydrogenase E1-Alpha Deficiency
Neonatal respiratory distress, Small for gestational age, Recurrent aspiration pneumonia, Recurre... ORPHA:79243
Acute Promyelocytic Leukemia
Epistaxis, Productive cough, Diffuse alveolar hemorrhage, Chronic infection, Weight loss, Stomati... ORPHA:520
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Chronic gastritis, Recurrent respiratory infections, Skin rash, Perianal abscess, Weight loss, Ar... OMIM:301074
Parkinson Disease 4, Autosomal Dominant
Weight loss OMIM:605543
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Decreased circulating cortisol level, Adrenal hyperplasia, Hypoglycemia, Increased circulating AC... ORPHA:90790
Secondary Short Bowel Syndrome
Sepsis, Failure to thrive, Enterocolitis, Weight loss ORPHA:95427
Medullary Thyroid Carcinoma
Neoplasm of the lung, Weight loss ORPHA:1332
Mcdonough Syndrome
Cachexia ORPHA:2471
Igg4-Related Aortitis
Increased inflammatory response, Asthma, Weight loss ORPHA:449400
Osteosarcoma
Weight loss ORPHA:668
Good Syndrome
Recurrent respiratory infections, Recurrent urinary tract infections, Sinusitis, Recurrent skin i... ORPHA:169105
Loeffler Endocarditis
Cough, Dyspnea, Pericarditis, Weight loss ORPHA:75566
Graves Disease, Susceptibility To, 1
Weight loss OMIM:275000
Congenital Enterocyte Heparan Sulfate Deficiency
Weight loss ORPHA:103910
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Inflammatory abnormality of the skin, Small for gestational age, Episodic t... ORPHA:26793
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Weight loss OMIM:188580
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Eczema, Desquamative interstitial pneumonitis, Recurrent upper respiratory tract infections, Inte... OMIM:615952
Orofaciodigital Syndrome Viii
Recurrent aspiration pneumonia OMIM:300484
Whipple Disease
Myositis, Pericarditis, Cachexia, Myocarditis, Uveitis, Respiratory insufficiency, Arthritis, Cou... ORPHA:3452
Sarcoidosis, Susceptibility To, 1
Dyspnea, Iridocyclitis, Bronchiectasis, Uveitis, Weight loss, Hypoxemia, Restrictive ventilatory ... OMIM:181000
Huntington Disease
Decreased body mass index, Weight loss ORPHA:399
Rheumatoid Arthritis
Rheumatoid arthritis, Weight loss OMIM:180300
Rett Syndrome
Failure to thrive, Increased serum leptin ORPHA:778
Ciliary Dyskinesia, Primary, 20
Recurrent respiratory infections, Productive cough, Atelectasis, Pulmonary artery stenosis, Recur... OMIM:615067
Listeriosis
Respiratory distress, Brain abscess, Pericarditis, Osteomyelitis, Unusual skin infection, Pneumon... ORPHA:533
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency
Failure to thrive, Pancreatitis, Aspiration pneumonia ORPHA:431361
Fatal Familial Insomnia
Apnea, Weight loss OMIM:600072
Congenital Multicore Myopathy With External Ophthalmoplegia
Abnormal respiratory system physiology, Recurrent respiratory infections, Respiratory failure, Pn... ORPHA:98905
Mitochondrial Neurogastrointestinal Encephalomyopathy
Cachexia, Weight loss ORPHA:298
Immunodeficiency 82 With Systemic Inflammation
Osteomyelitis, Skin rash, Pneumonia, Bronchitis, Recurrent skin infections, Gastritis, Bronchiect... OMIM:619381
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Restrictive ventilatory defect, Pneumonia OMIM:253700
Christianson Syndrome
Cachexia ORPHA:85278
Acquired Hypertrichosis Lanuginosa
Weight loss ORPHA:2221
Juvenile Neuronal Ceroid Lipofuscinosis
Apnea, Episodic tachypnea, Aspiration pneumonia ORPHA:79264
Oromandibular Dystonia
Respiratory distress, Weight loss ORPHA:93958
Lipodystrophy Due To Peptidic Growth Factors Deficiency
Cachexia, Weight loss ORPHA:1979
Huntington Disease-Like 1
Weight loss ORPHA:157941
Gm1 Gangliosidosis
Recurrent respiratory infections, Weight loss, Aspiration pneumonia, Failure to thrive, Infectiou... ORPHA:354
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Weight loss OMIM:613239
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2
Failure to thrive in infancy, Cachexia OMIM:616801
Isolated Succinate-Coq Reductase Deficiency
Weight loss ORPHA:3208
Generalized Glucocorticoid Resistance Syndrome
Increased urinary cortisol level, Adrenal hyperplasia, Hypoglycemia, Precocious puberty, Increase... ORPHA:786
Giant Cell Arteritis
Pericarditis, Epistaxis, Abnormal pleura morphology, Recurrent pharyngitis, Weight loss, Arthriti... ORPHA:397
Congenital Tufting Enteropathy
Arthritis, Punctate keratitis, Failure to thrive, Weight loss ORPHA:92050
Cryptococcosis
Respiratory distress, Osteomyelitis, Pneumonia, Nodular pattern on pulmonary HRCT, Dyspnea, Perit... ORPHA:1546
Shigellosis
Failure to thrive in infancy, Pneumonia, Myocarditis, Peritonitis, Sepsis, Uveitis, Ulcerative co... ORPHA:810
Stevens-Johnson Syndrome
Recurrent respiratory infections, Abnormal pleura morphology, Dyspnea, Sepsis, Weight loss, Restr... ORPHA:36426
Atypical Werner Syndrome
Failure to thrive, Diabetes mellitus, Abnormal circulating leptin concentration, Insulin-resistan... ORPHA:79474
Malt Lymphoma
Recurrent respiratory infections, Posterior uveitis, Weight loss ORPHA:52417
Mucoepithelial Dysplasia, Hereditary
Pneumonia, Recurrent pneumonia, Chronic mucocutaneous candidiasis, Keratoconjunctivitis, Fibrocys... OMIM:158310
Toxic Epidermal Necrolysis
Respiratory distress, Recurrent respiratory infections, Abnormal pleura morphology, Sepsis, Weigh... ORPHA:537
Neuropathy, Congenital Hypomyelinating, 3
Respiratory failure, Respiratory insufficiency, Cachexia OMIM:618186
Roifman-Chitayat Syndrome
Arthritis, Pneumonia OMIM:613328
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Respiratory distress, Hypoventilation, Apnea, Recurrent pneumonia, Aspiration pneumonia ORPHA:314655
19Q13.11 Microdeletion Syndrome
Recurrent respiratory infections, Failure to thrive, Cachexia ORPHA:217346
Acrodermatitis Enteropathica
Pustule, Cheilitis, Weight loss, Conjunctivitis, Failure to thrive, Blepharitis ORPHA:37
Behçet Disease
Increased inflammatory response, Myositis, Pericarditis, Acne, Pulmonary embolism, Orchitis, Retr... ORPHA:117
Renpenning Syndrome
Cachexia ORPHA:3242
Non-Functioning Paraganglioma
Weight loss ORPHA:94080
Zygomycosis
Fasciitis, Sinusitis, Acute infectious pneumonia, Colitis, Cough, Nephritis, Infectious encephali... ORPHA:73263
Thymic Neuroendocrine Tumor
Cough, Abnormal breath sound, Weight loss ORPHA:97289
Aicardi-Goutieres Syndrome 9
Acute pancreatitis, Pericarditis, Recurrent urinary tract infections, Chilblains, Weight loss, Fa... OMIM:619487
Mirage Syndrome
Recurrent urinary tract infections, Sepsis, Recurrent bacterial infections, Aspiration pneumonia,... OMIM:617053
Primary Intestinal Lymphangiectasia
Cryptococcal meningitis, Opportunistic infection, Pleural effusion, Weight loss ORPHA:90362
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Cachexia, Exertional dyspnea ORPHA:42
Budd-Chiari Syndrome
Peritonitis, Cholecystitis, Weight loss ORPHA:131
Acute Monoblastic/Monocytic Leukemia
Exertional dyspnea, Weight loss ORPHA:514
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Iridocyclitis, Knee osteoarthritis, Oligoarthritis, Synovitis, Enthesitis, Uveitis, Weight loss, ... ORPHA:85408
Cystic Fibrosis
Reduced forced expiratory volume in one second, Reduced forced vital capacity, Recurrent bronchop... OMIM:219700
Glucose-Galactose Malabsorption
Failure to thrive, Weight loss ORPHA:35710
Coccidioidomycosis
Respiratory distress, Pericarditis, Osteomyelitis, Skin rash, Pneumonia, Coccidioidal meningitis,... ORPHA:228123
Juvenile Dermatomyositis
Myositis, Pericarditis, Skin rash, Dyspnea, Weight loss, Restrictive ventilatory defect, Arthriti... ORPHA:93672
Gaucher Disease, Type Ii
Apnea, Stridor, Cough, Bronchiolitis, Failure to thrive, Recurrent aspiration pneumonia OMIM:230900
Celiac Disease, Susceptibility To, 1
Eczema, Thyroiditis, Weight loss, Recurrent aphthous stomatitis, Stomatitis, Failure to thrive OMIM:212750
Hereditary Bullous Dystrophy, Macular Type
Pneumonia ORPHA:1867
Congenital Fiber-Type Disproportion Myopathy
Recurrent respiratory infections, Hypercapnia, Respiratory insufficiency due to muscle weakness, ... ORPHA:2020
Familial Glucocorticoid Deficiency
Recurrent urinary tract infections, Failure to thrive, Recurrent infections, Weight loss ORPHA:361
Solitary Fibrous Tumor
Neoplasm of the lung, Neoplasia of the pleura, Weight loss ORPHA:2126
Flynn-Aird Syndrome
Cachexia ORPHA:2047
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Cachexia ORPHA:1933
Spondyloenchondrodysplasia
Skin rash, Pneumonia, Hepatitis, Recurrent infections, Arthritis, Juvenile rheumatoid arthritis ORPHA:1855
Ring Chromosome 10 Syndrome
Cachexia ORPHA:1438
Infantile Krabbe Disease
Respiratory distress, Cachexia, Recurrent infections, Respiratory failure, Failure to thrive ORPHA:206436
Malignant Atrophic Papulosis
Peritonitis, Weight loss, Respiratory failure, Arteritis, Pleural effusion ORPHA:679
Lipodystrophy, Congenital Generalized, Type 1
Insulin-resistant diabetes mellitus at puberty, Diabetes mellitus, Hyperinsulinemia, Decreased se... OMIM:608594
Spondyloenchondrodysplasia With Immune Dysregulation
Recurrent respiratory infections, Pneumonia, Restrictive ventilatory defect, Rheumatoid arthritis... OMIM:607944
Aggressive Systemic Mastocytosis
Maculopapular exanthema, Weight loss ORPHA:98850
Tetrasomy 12P
Cachexia ORPHA:884
Atrial Septal Defect, Coronary Sinus Type
Pneumonia, Increased pulmonary vascular resistance, Dyspnea, Anomalous pulmonary venous return, R... ORPHA:99104
Igg4-Related Kidney Disease
Pericarditis, Inflammatory abnormality of the skin, Lymphadenitis, Abnormal lung morphology, Urin... ORPHA:449395
Erdheim-Chester Disease
Osteomyelitis, Skin rash, Dyspnea, Abnormal pulmonary interstitial morphology, Weight loss, Pulmo... ORPHA:35687
Refractory Celiac Disease
Inflammatory abnormality of the skin, Weight loss ORPHA:398063
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Cachexia ORPHA:2774
Late-Onset Isolated Acth Deficiency
Sepsis, Hepatitis, Weight loss, Failure to thrive, Hashimoto thyroiditis ORPHA:199299
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome
Severe failure to thrive, Cachexia ORPHA:371364
Simple Cryoglobulinemia
Viral hepatitis, Pericarditis, Membranoproliferative glomerulonephritis, Abnormal lung morphology... ORPHA:91139
Infection-Related Hemolytic Uremic Syndrome
Brain abscess, Pneumonia, Respiratory tract infection, Dyspnea, Myocarditis, Severe infection, Se... ORPHA:544482
Rett Syndrome
Apnea, Cachexia, Intermittent hyperventilation OMIM:312750
Imerslund-Gräsbeck Syndrome
Failure to thrive, Angular cheilitis, Weight loss ORPHA:35858
Neuroendocrine Tumor Of The Colon
Bronchospasm, Weight loss ORPHA:100080
Cronkhite-Canada Syndrome
Cachexia ORPHA:2930
Aicardi-Goutieres Syndrome 7
Atrophic gastritis, Skin rash, Pneumonia, Chilblains, Hepatitis, Atopic dermatitis, Weight loss, ... OMIM:615846
Lipodystrophy, Congenital Generalized, Type 2
Insulin-resistant diabetes mellitus at puberty, Hyperinsulinemia, Type II diabetes mellitus, Decr... OMIM:269700
Proximal Spinal Muscular Atrophy
Hypoventilation, Neonatal respiratory distress, Recurrent infections due to aspiration, Respirato... ORPHA:70
Combined Oxidative Phosphorylation Deficiency 25
Failure to thrive, Aspiration pneumonia OMIM:616430
Polycythemia Vera
Pulmonary embolism, Epistaxis, Respiratory insufficiency, Weight loss ORPHA:729
Hemorrhagic Fever-Renal Syndrome
Respiratory distress, Pneumonia, Epistaxis, Glomerulonephritis, Dyspnea, Severe infection, Acute ... ORPHA:340
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Neonatal respiratory distress, Psoriasiform dermatitis, Recurrent urinary tract infections, Recur... ORPHA:221139
Osteootohepatoenteric Syndrome
Asthma, Failure to thrive, Weight loss OMIM:619377
Hennekam-Beemer Syndrome
Failure to thrive, Pneumonia, Respiratory insufficiency ORPHA:2135
Wolman Disease
Cachexia ORPHA:75233
Shwachman-Diamond Syndrome
Sinusitis, Skin rash, Pneumonia, Eczema, Osteomyelitis, Recurrent viral infections, Sepsis, Recur... ORPHA:811
Inflammatory Pseudotumor Of The Liver
Weight loss ORPHA:90003
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Sepsis, Skin rash, Pneumonia ORPHA:247691
Nestor-Guillermo Progeria Syndrome
Failure to thrive, Decreased serum leptin OMIM:614008
Neuroblastoma, Susceptibility To, 1
Failure to thrive, Weight loss OMIM:256700
Poems Syndrome
Respiratory insufficiency due to muscle weakness, Weight loss, Restrictive ventilatory defect, Pu... ORPHA:2905
Atrial Septal Defect, Ostium Secundum Type
Orthopnea, Pneumonia, Breathing dysregulation, Increased pulmonary vascular resistance, Dyspnea, ... ORPHA:99103
8P23.1 Microdeletion Syndrome
Pulmonary artery stenosis, Obesity, Weight loss ORPHA:251071
Primary Hepatic Neuroendocrine Carcinoma
Neoplasm of the lung, Dyspnea, Bronchospasm, Weight loss ORPHA:100085
Adrenocortical Carcinoma
Lung adenocarcinoma, Increased body weight, Weight loss ORPHA:1501
Klatskin Tumor
Weight loss ORPHA:99978
Chronic Graft Versus Host Disease
Fasciitis, Dyspnea, Wheezing, Pneumothorax, Urinary bladder inflammation, Bronchiectasis, Weight ... ORPHA:99921
Dermatomyositis
Recurrent respiratory infections, Pericarditis, Myocarditis, Abnormal pulmonary interstitial morp... ORPHA:221
Al Amyloidosis
Dyspnea, Nonproductive cough, Pulmonary interstitial high-resolution computed tomography abnormal... ORPHA:85443
Bickerstaff Brainstem Encephalitis
Respiratory failure requiring assisted ventilation, Pneumonia, Hypercapnia, Respiratory tract inf... ORPHA:79138
Tropical Pancreatitis
Chronic calcifying pancreatitis, Weight loss ORPHA:103918
Beta-Ketothiolase Deficiency
Cough, Tachypnea, Weight loss ORPHA:134
Non-Acquired Panhypopituitarism
Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypogonadism, Dec... ORPHA:90695
Severe Generalized Junctional Epidermolysis Bullosa
Respiratory distress, Recurrent urinary tract infections, Recurrent skin infections, Pneumonia, D... ORPHA:79404
Mercury Poisoning
Respiratory distress, Dyspnea, Respiratory failure, Interstitial pneumonitis ORPHA:330021
Goodpasture Syndrome
Glomerulonephritis, Crackles, Nodular pattern on pulmonary HRCT, Increased DLCO, Tachypnea, Weigh... OMIM:233450
Symptomatic Form Of Hfe-Related Hemochromatosis
Arthritis, Weight loss ORPHA:465508
Neuroendocrine Tumor Of The Rectum
Bronchospasm, Weight loss ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Bronchospasm, Weight loss ORPHA:100082
Infantile Neuroaxonal Dystrophy
Apneic episodes in infancy, Aspiration pneumonia ORPHA:35069
Aredyld Syndrome
Cachexia ORPHA:1133
Mohr-Tranebjaerg Syndrome
Aspiration pneumonia ORPHA:52368
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Small for gestational age, Weight loss ORPHA:424
Oculogastrointestinal Muscular Dystrophy
Cachexia ORPHA:1876
Peripheral Primitive Neuroectodermal Tumor
Pancreatitis, Weight loss ORPHA:370348
Alveolar Echinococcosis
Pulmonary cyst, Cholangitis, Dyspnea, Weight loss, Cough, Cutaneous abscess ORPHA:284
Oculopharyngodistal Myopathy 1
Respiratory distress, Hypercapnia, Reduced forced vital capacity, Respiratory insufficiency due t... OMIM:164310
Carney-Stratakis Syndrome
Weight loss ORPHA:97286
Fanconi Anemia, Complementation Group F
Failure to thrive, Pneumonia OMIM:603467
Short Syndrome
Weight loss ORPHA:3163
Keppen-Lubinsky Syndrome
Failure to thrive, Decreased serum leptin OMIM:614098
Chops Syndrome
Obesity, Anomalous pulmonary venous return, Aspiration pneumonia, Tracheomalacia, Chronic lung di... OMIM:616368
3-Hydroxy-3-Methylglutaric Aciduria
Acute pancreatitis, Tachypnea, Apnea, Weight loss ORPHA:20
Igg4-Related Retroperitoneal Fibrosis
Deep dermal perivascular inflammatory infiltrate, Psoriasiform dermatitis, Weight loss, Membranou... ORPHA:49041
Mucolipidosis Type Ii
Respiratory failure requiring assisted ventilation, Recurrent respiratory infections, Weight loss... ORPHA:576
Gallbladder Neuroendocrine Tumor
Cholecystitis, Weight loss ORPHA:100086
X-Linked Dystonia-Parkinsonism
Aspiration pneumonia ORPHA:53351
Silver-Russell Syndrome
Failure to thrive in infancy, Obesity, Cachexia ORPHA:813
Geleophysic Dysplasia 3
Dyspnea, Respiratory failure, Pneumonia OMIM:617809
Acute Adrenal Insufficiency
Recurrent acute respiratory tract infection, Failure to thrive, Weight loss ORPHA:95409
X-Linked Creatine Transporter Deficiency
Cachexia ORPHA:52503
Hereditary Amyloidosis With Primary Renal Involvement
Tubulointerstitial nephritis, Weight loss ORPHA:85450
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia
Recurrent pneumonia, Recurrent aspiration pneumonia OMIM:300472
Sarcoidosis
Maculopapular exanthema, Abnormal pleura morphology, Erythema nodosum, Dyspnea, Abnormal lung mor... ORPHA:797
Familial Thrombocytosis
Pulmonary arterial hypertension, Weight loss ORPHA:71493
Primary Sclerosing Cholangitis
Recurrent systemic pyogenic infections, Hepatitis, Ulcerative colitis, Uveitis, Weight loss, Thyr... ORPHA:171
Amoebiasis Due To Free-Living Amoebae
Unusual skin infection, Sinusitis, Pneumonia, Respiratory tract infection, Pustule, Infectious en... ORPHA:68
Alpha-Mannosidosis, Infantile Form
Recurrent urinary tract infections, Pneumonia, Recurrent infections, Recurrent gastroenteritis, O... ORPHA:309282
Primary Myelofibrosis
Cachexia ORPHA:824
Fryns-Smeets-Thiry Syndrome
Cachexia ORPHA:2058
Sporadic Pheochromocytoma/Secreting Paraganglioma
Weight loss ORPHA:276621
Gerstmann-Straussler Disease
Weight loss OMIM:137440
Marshall-Smith Syndrome
Apnea, Recurrent upper respiratory tract infections, Stridor, Aspiration pneumonia, Decreased bod... OMIM:602535
Castleman Disease
Cough, Dyspnea, Weight loss ORPHA:160
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Slender build, Cachexia, Weight loss OMIM:603041
Hermansky-Pudlak Syndrome
Dyspnea, Epistaxis, Pulmonary fibrosis, Weight loss ORPHA:79430
Glossopharyngeal Neuralgia
Weight loss ORPHA:221098
Nijmegen Breakage Syndrome
Recurrent sinopulmonary infections, Recurrent respiratory infections, Cachexia, Recurrent pneumon... ORPHA:647
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Cachexia OMIM:175500
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Aspiration pneumonia OMIM:619167
Juvenile Amyotrophic Lateral Sclerosis
Cachexia ORPHA:300605
Pancreatic Triacylglycerol Lipase Deficiency
Keratoconjunctivitis sicca, Colitis, Weight loss ORPHA:309031
Kikuchi-Fujimoto Disease
Skin rash, Pustule, Myocarditis, Abnormal pulmonary interstitial morphology, Weight loss, Pleural... ORPHA:50918
Lissencephaly Due To Lis1 Mutation
Aspiration pneumonia ORPHA:95232
Familial Gestational Hyperthyroidism
Weight loss ORPHA:99819
X-Linked Intellectual Disability, Cabezas Type
Obesity, Cachexia ORPHA:85293
Hutchinson-Gilford Progeria Syndrome
Female hypogonadism, Decreased serum leptin, Insulin resistance, Weight loss, Severe failure to t... ORPHA:740
Mucopolysaccharidosis, Type Vi
Restrictive ventilatory defect, Recurrent upper respiratory tract infections, Pneumonia, Pulmonar... OMIM:253200
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Respiratory insufficiency, Weight loss OMIM:607459
Pancreatoblastoma
Weight loss ORPHA:677
Neuroendocrine Tumor Of Stomach
Bronchospasm, Weight loss ORPHA:100075
Plague
Respiratory distress, Chapped lip, Skin rash, Erythema nodosum, Lymphadenitis, Meningitis, Entero... ORPHA:707
Mucopolysaccharidosis Type 3
Recurrent sinopulmonary infections, Respiratory tract infection, Recurrent tonsillitis, Upper air... ORPHA:581
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Respiratory distress, Respiratory failure requiring assisted ventilation, Anterior uveitis, Infla... ORPHA:95455
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome
Cachexia ORPHA:3217
Xeroderma Pigmentosum-Cockayne Syndrome Complex
Skin rash, Cachexia ORPHA:220295
Lysosomal Acid Lipase Deficiency
Pulmonary arterial hypertension, Failure to thrive, Cachexia, Weight loss ORPHA:275761
Degcags Syndrome
Recurrent urinary tract infections, Small for gestational age, Pneumonia, Asthma, Recurrent infec... OMIM:619488
Caroli Disease
Cholangitis, Weight loss ORPHA:53035
Cholera
Tachypnea, Aspiration pneumonia, Hyperventilation ORPHA:173
Lynch Syndrome
Weight loss ORPHA:144
Xfe Progeroid Syndrome
Failure to thrive, Cachexia OMIM:610965
Hereditary Pheochromocytoma-Paraganglioma
Weight loss ORPHA:29072
Multiple Myeloma
Pleural effusion, Weight loss ORPHA:29073
Familial Colorectal Cancer Type X
Weight loss ORPHA:440437
Systemic Mastocytosis With Associated Hematologic Neoplasm
Weight loss ORPHA:98849
Hereditary Late-Onset Parkinson Disease
Weight loss ORPHA:411602
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Truncal obesity, Aspiration pneumonia, Seborrheic dermatitis OMIM:301072
Cornelia De Lange Syndrome 1
Pneumonia, Otitis media OMIM:122470
Thyrotoxic Periodic Paralysis
Respiratory paralysis, Obesity, Weight loss ORPHA:79102
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction
Hypoventilation, Apnea, Hypopnea, Restrictive ventilatory defect, Aspiration pneumonia OMIM:619482
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Recurrent respiratory infections, Recurrent urinary tract infections, Pneumonia, Asthma, Obesity,... ORPHA:353281
Anemia, Congenital Dyserythropoietic, Type Iv
Weight loss OMIM:613673
Bannayan-Riley-Ruvalcaba Syndrome
Hashimoto thyroiditis, Cachexia ORPHA:109
Adult-Onset Autosomal Dominant Leukodystrophy
Recurrent urinary tract infections, Aspiration pneumonia ORPHA:99027
Renal Nutcracker Syndrome
Weight loss ORPHA:71273
Gm1 Gangliosidosis Type 1
Aspiration pneumonia ORPHA:79255
Liver Disease, Severe Congenital
Chronic gastritis, Recurrent urinary tract infections, Eczema, Pneumonia, Peritonitis, Sepsis, Co... OMIM:619991
Schwartz-Jampel Syndrome
Apnea, Cachexia, Respiratory insufficiency, Decreased body weight, Pulmonary arterial hypertension ORPHA:800
Neuroleptic Malignant Syndrome
Sepsis, Aspiration pneumonia, Pulmonary embolism ORPHA:94093
Igg4-Related Dacryoadenitis And Sialadenitis
Myositis, Thyroiditis, Weight loss, Tubulointerstitial nephritis, Keratoconjunctivitis sicca ORPHA:79078
Tay-Sachs Disease
Aspiration pneumonia ORPHA:845
Addison Disease
Failure to thrive, Hashimoto thyroiditis, Weight loss ORPHA:85138
Isolated Permanent Neonatal Diabetes Mellitus
Failure to thrive, Weight loss ORPHA:99885
Tubulointerstitial Nephritis And Uveitis Syndrome
Nongranulomatous uveitis, Anterior uveitis, Skin rash, Intermediate uveitis, Weight loss, Sclerit... ORPHA:91500
Familial Pancreatic Carcinoma
Weight loss ORPHA:1333
Coffin-Siris Syndrome
Recurrent upper respiratory tract infections, Aspiration pneumonia, Recurrent infections ORPHA:1465
Glucagonoma
Stomatitis, Skin rash, Weight loss ORPHA:97280
Parathyroid Carcinoma
Pancreatitis, Weight loss ORPHA:143
Grfoma
Neoplasm of the lung, Weight loss ORPHA:97261
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Asthma, Obesity, Aspiration pneumonia, Tracheomalacia, Pulmonary arterial hypertension, Chronic l... ORPHA:444077
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Recurrent respiratory infections, Recurrent urinary tract infections, Pneumonia, Asthma, Obesity,... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Recurrent respiratory infections, Recurrent urinary tract infections, Pneumonia, Asthma, Obesity,... ORPHA:353277
Seckel Syndrome
Cachexia ORPHA:808
Zollinger-Ellison Syndrome
Esophagitis, Weight loss ORPHA:913
Fanconi Anemia
Recurrent urinary tract infections, Weight loss ORPHA:84
Marfan Syndrome
Arthralgia/arthritis, Spontaneous pneumothorax, Cachexia, Emphysema, Pulmonary artery dilatation,... ORPHA:558
Trisomy 18
Cachexia ORPHA:3380
Vipoma
Respiratory insufficiency due to muscle weakness, Weight loss ORPHA:97282
Stickler Syndrome
Recurrent respiratory infections, Cachexia, Osteoarthritis, Uveitis, Chronic otitis media, Slende... ORPHA:828
Wiedemann-Rautenstrauch Syndrome
Recurrent respiratory infections, Failure to thrive, Small for gestational age, Pneumonia OMIM:264090
Primary Fanconi Renotubular Syndrome
Pulmonary fibrosis, Weight loss ORPHA:3337
Ileal Neuroendocrine Tumor
Weight loss ORPHA:100078
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Cachexia ORPHA:1969
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Spontaneous, recurrent epistaxis, Cachexia, Abnormal pulmonary interstitial morphology, Pulmonary... ORPHA:2072
Semilobar Holoprosencephaly
Central apnea, Aspiration pneumonia, Failure to thrive, Abnormal pattern of respiration, Chronic ... ORPHA:220386
Alobar Holoprosencephaly
Central apnea, Aspiration pneumonia, Failure to thrive, Abnormal pattern of respiration, Chronic ... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Central apnea, Aspiration pneumonia, Failure to thrive, Abnormal pattern of respiration, Chronic ... ORPHA:93926
Lobar Holoprosencephaly
Central apnea, Aspiration pneumonia, Failure to thrive, Abnormal pattern of respiration, Chronic ... ORPHA:93924
Ppoma
Weight loss ORPHA:97278
Tsh-Secreting Pituitary Adenoma
Weight loss ORPHA:91347
African Trypanosomiasis
Pericarditis, Keratitis, Myocarditis, Weight loss, Optic neuritis, Conjunctivitis, Iritis, Myelitis ORPHA:3385
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Hypocapnia, Failure to thrive, Acne, Weight loss ORPHA:90794
Cystinosis, Nephropathic
Failure to thrive in infancy, Weight loss OMIM:219800
Somatostatinoma
Weight loss ORPHA:97283
Cushing Syndrome Due To Ectopic Acth Secretion
Acne, Small cell lung carcinoma, Increased body weight, Recurrent cutaneous fungal infections, We... ORPHA:99889
Cockayne Syndrome
Keratoconjunctivitis sicca, Malar rash, Cachexia ORPHA:191
Juvenile Polyposis Of Infancy
Cachexia ORPHA:79076
Proteus Syndrome
Cachexia, Pulmonary embolism, Abnormal lung lobation, Recurrent infections, Neoplasm of the lung,... ORPHA:744
Niemann-Pick Disease Type C
Abnormal lung morphology, Respiratory failure, Respiratory insufficiency, Aspiration pneumonia ORPHA:646
Multiple Endocrine Neoplasia Type 1
Weight loss ORPHA:652
Choreoacanthocytosis
Arthritis, Weight loss ORPHA:2388
Camurati-Engelmann Disease
Slender build, Cachexia ORPHA:1328
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Hypoventilation, Apnea, Aspiration pneumonia, Breathing dysregulation ORPHA:438213
Doors Syndrome
Respiratory distress, Aspiration pneumonia ORPHA:79500
Tropical Endomyocardial Fibrosis
Orthopnea, Dyspnea, Pulmonary venous hypertension, Cachexia ORPHA:75565
Yunis-Varon Syndrome
Small for gestational age, Failure to thrive in infancy, Aspiration pneumonia, Severe failure to ... OMIM:216340
Norrie Disease
Failure to thrive, Cachexia ORPHA:649
Pmm2-Cdg
Respiratory distress, Pericarditis, Failure to thrive, Aspiration pneumonia ORPHA:79318

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Ikbke

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 Ikbke.

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

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Ikbketm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Ikbketm1b(EUCOMM)Wtsi Reporter-tagged deletion allele (with selection cassette) Mice
Ikbketm1c(EUCOMM)Wtsi Wild type floxed exon (post-Flp) Mice
Ikbketm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, ES Cells

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