Gene Summary

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

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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

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, Cough, Recurrent pneumonia, Dyspnea, Weight loss ORPHA:64741
Immunodeficiency 11
Recurrent respiratory infections, Pneumonia OMIM:615206
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Abnormal circulating insulin concentration, Hypoketotic hypoglycemia, Truncal obesity, Large for ... ORPHA:293964
Short Stature Due To Ghsr Deficiency
Decreased body weight, Hypoglycemia, Delayed puberty, Decreased serum insulin-like growth factor ... ORPHA:314811
Immunodeficiency 51
Chronic furunculosis, Chronic oral candidiasis, Folliculitis, Recurrent cutaneous fungal infectio... OMIM:613953
Hyperinsulinemic Hypoglycemia, Familial, 7
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancreatic islet-cell hyperplasia,... OMIM:610021
Hyperinsulinemic Hypoglycemia, Familial, 2
Hypoglycemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Large for gestati... OMIM:601820
Short Stature Due To Partial Ghr Deficiency
Hypoglycemia, Decreased serum insulin-like growth factor 1, Delayed puberty ORPHA:314802
Type 2 Diabetes Mellitus
Insulin resistance, Increased waist to hip ratio, Type II diabetes mellitus OMIM:125853
Idiopathic Achalasia
Wheezing, Cough, Recurrent aspiration pneumonia, Bronchitis, Weight loss ORPHA:930
Tuberculosis
Abnormal lung morphology, Weight loss, Cough ORPHA:3389
Isolated Growth Hormone Deficiency, Type Ia
Hypoglycemia, Reduced circulating growth hormone concentration, Decreased serum insulin-like grow... OMIM:262400
Immunodeficiency 32B
Sinusitis, Recurrent infections, Pneumonia, Bronchiectasis, Recurrent respiratory infections OMIM:226990
Hyperinsulinism Due To Insr Deficiency
Hyperinsulinemic hypoglycemia, Hypoglycemia, Fasting hyperinsulinemia, Insulin resistance, Recurr... ORPHA:263458
Immunodeficiency 104
Otitis media, Eczema, Recurrent opportunistic infections, Chronic mucocutaneous candidiasis, Pneu... OMIM:608971
Idiopathic Bronchiectasis
Reduced FEV1/FVC ratio, Cachexia, Crackles, Acute infectious pneumonia, Wheezing, Recurrent lower... ORPHA:60033
Immunodeficiency 48
Recurrent candida infections, Failure to thrive, Eczematoid dermatitis, Pneumonia, Recurrent resp... OMIM:269840
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Neonatal hypoglycemia, Large for gestational age, Truncal obesity OMIM:240900
Ciliary Dyskinesia, Primary, 44
Reduced forced expiratory volume in one second, Otitis media, Reduced forced vital capacity, Recu... OMIM:618781
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Failure to thrive, Otitis media, Purulent rhinitis, Recurrent opportunistic infections, Arthritis... OMIM:601457
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Abnormal circulating insulin concentration, Decreased circulating free T3, Increased circulating ... ORPHA:171706
Young Syndrome
Bronchiectasis, Recurrent bronchitis, Congenital pulmonary airway malformation, Recurrent sinopul... OMIM:279000
Insulin Autoimmune Syndrome
Hyperinsulinemic hypoglycemia, Insulin resistance, Reactive hypoglycemia, Nonketotic hypoglycemia... ORPHA:411593
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency
Recurrent candida infections, Recurrent mycobacterial infections, Histoplasmosis, Severe toxoplas... ORPHA:319552
Maturity-Onset Diabetes Of The Young, Type 3
Maturity-onset diabetes of the young, Type II diabetes mellitus, Hyperglycemia OMIM:600496
Ciliary Dyskinesia, Primary, 9
Bronchiectasis, Chronic otitis media, Cough, Recurrent sinusitis, Chronic rhinitis, Chronic sinus... OMIM:612444
Isolated Congenital Hypoglossia/Aglossia
Respiratory distress, Aspiration pneumonia, Upper airway obstruction, Dyspnea, Weight loss ORPHA:141152
Cd8 Deficiency, Familial
Bronchiectasis, Recurrent viral infections, Recurrent bacterial infections, Recurrent respiratory... OMIM:608957
Mounier-Kühn Syndrome
Bronchitis, Recurrent bronchopulmonary infections, Recurrent respiratory infections, Pneumonia ORPHA:3347
Complement Factor B Deficiency
Recurrent bacterial infections, Peritonitis, Recurrent meningococcal disease, Meningitis, Pneumonia OMIM:615561
Hyperinsulinism Due To Glucokinase Deficiency
Type II diabetes mellitus, Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Fasting hyper... ORPHA:79299
Akt2-Related Familial Partial Lipodystrophy
Insulin resistance, Decreased serum leptin, Insulin-resistant diabetes mellitus, Decreased adipon... ORPHA:79085
Ciliary Dyskinesia, Primary, 42
Chronic pulmonary obstruction, Respiratory insufficiency, Reduced forced vital capacity, Recurren... OMIM:618695
Ciliary Dyskinesia, Primary, 23
Bronchiectasis, Respiratory insufficiency due to defective ciliary clearance, Chronic bronchitis,... OMIM:615451
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency
Hypoglycemia ORPHA:35701
Maturity-Onset Diabetes Of The Young, Type 10
Diabetic ketoacidosis, Hyperglycemia, Maturity-onset diabetes of the young, Diabetes mellitus OMIM:613370
Ciliary Dyskinesia, Primary, 21
Bronchiectasis, Ciliary dyskinesia, Chronic sinusitis, Recurrent pneumonia, Recurrent otitis medi... OMIM:615294
Lipodystrophy, Familial Partial, Type 5
Diabetic ketoacidosis, Decreased adiponectin level, Decreased serum leptin OMIM:615238
Pituitary Hormone Deficiency, Combined, 4
Hypoglycemia, Hypothyroidism, Impaired growth-hormone response to insulin stimulation test, Adren... OMIM:262700
Body Mass Index Quantitative Trait Locus 19
Insulin resistance, Obesity, Hyperinsulinemia, Increased serum leptin OMIM:617885
Mucus Inspissation Of Respiratory Tract
Bronchiectasis, Chronic sinusitis, Chronic pulmonary obstruction, Recurrent respiratory infections OMIM:253240
Ciliary Dyskinesia, Primary, 46
Reduced forced expiratory volume in one second, Reduced forced vital capacity, Recurrent sinusiti... OMIM:619436
Combined Immunodeficiency, X-Linked
Sinusitis, Recurrent bronchitis, Pneumonia, Otitis media OMIM:312863
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
Recurrent upper respiratory tract infections, Atopic dermatitis, Pneumonia OMIM:618806
Ciliary Dyskinesia, Primary, 39
Chronic lung disease, Cough, Recurrent lower respiratory tract infections, Rhinorrhea, Recurrent ... OMIM:618254
Ciliary Dyskinesia, Primary, 3
Bronchiectasis, Recurrent sinusitis, Ciliary dyskinesia, Recurrent otitis media, Neonatal respira... OMIM:608644
Bronchiolitis Obliterans With Obstructive Pulmonary Disease
Reduced forced expiratory volume in one second, Bronchiectasis, Reduced FEV1/FVC ratio, Airway ob... ORPHA:1303
Hyperproinsulinemia
Hyperinsulinemia, Hyperglycemia OMIM:616214
Ciliary Dyskinesia, Primary, 27
Bronchiectasis, Respiratory insufficiency due to defective ciliary clearance, Chronic bronchitis,... OMIM:615504
Ciliary Dyskinesia, Primary, 33
Cough, Recurrent lower respiratory tract infections, Chronic rhinitis, Recurrent bronchitis, Cili... OMIM:616726
Hypoglycemia, Leucine-Induced
Hypoglycemia, Hyperinsulinemic hypoglycemia OMIM:240800
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Reduced FEV1/FVC ratio, Chronic pulmonary obstruction, Chronic bronchitis, Hypoxemia, Nonproducti... ORPHA:79127
Immunodeficiency 11B With Atopic Dermatitis
Asthma, Atopic dermatitis, Pneumonia OMIM:617638
Glucocorticoid Deficiency 2
Decreased circulating cortisol level, Recurrent hypoglycemia, Increased circulating ACTH level OMIM:607398
Glucocorticoid Deficiency 3
Recurrent hypoglycemia OMIM:609197
Ciliary Dyskinesia, Primary, 41
Recurrent sinusitis, Bronchiectasis, Impaired nasal mucociliary clearance, Recurrent otitis media OMIM:618449
Tracheobronchomegaly
Bronchiectasis, Recurrent bronchopulmonary infections OMIM:275300
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
Homozygous 11P15-P14 Deletion Syndrome
Hypoglycemia, Failure to thrive, Hyperinsulinemia OMIM:606528
Allergic Bronchopulmonary Aspergillosis
Asthma, Respiratory insufficiency, Cough, Emphysema, Bronchiectasis, Weight loss, Pulmonary arter... ORPHA:1164
Glycogen Storage Disease 0, Liver
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia OMIM:240600
Ciliary Dyskinesia, Primary, 32
Ciliary dyskinesia, Bronchiectasis, Neonatal respiratory distress, Immotile cilia, Recurrent resp... OMIM:616481
Scedosporiosis
Unusual CNS infection, Sepsis, Pneumonia, Pericarditis, Arthralgia/arthritis, Respiratory failure... ORPHA:449280
Ciliary Dyskinesia, Primary, 36, X-Linked
Cough, Recurrent sinusitis, Neonatal respiratory distress, Bronchiectasis, Recurrent respiratory ... OMIM:300991
Combined Immunodeficiency Due To Dock8 Deficiency
Recurrent candida infections, Onychomycosis, Recurrent bacterial skin infections, Asthma, Atopic ... ORPHA:217390
Ciliary Dyskinesia, Primary, 28
Bronchiectasis, Respiratory insufficiency due to defective ciliary clearance, Chronic bronchitis,... OMIM:615505
Ciliary Dyskinesia, Primary, 7
Reduced FEV1/FVC ratio, Cough, Chronic rhinitis, Ciliary dyskinesia, Recurrent pneumonia, Restric... OMIM:611884
Pulmonary Non-Tuberculous Mycobacterial Infection
Respiratory distress, Chronic pulmonary obstruction, Mycobacterium abscessus abscessus infection,... ORPHA:411703
Carcinoma Of Esophagus
Obesity, Weight loss, Cough ORPHA:70482
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Recurrent infections, Chronic bronchitis, Pneumonia OMIM:614069
Pneumocystosis
Chronic oral candidiasis, Multiple pulmonary cysts, Hypoxemia, Nonproductive cough, Respiratory i... ORPHA:723
Immunodeficiency 56
Failure to thrive, Recurrent infection of the gastrointestinal tract, Chronic hepatitis due to cr... OMIM:615207
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone
Hypoglycemia OMIM:223500
Chronic Beryllium Disease
Reduced FEV1/FVC ratio, Lymphocytic interstitial pneumonia, Respiratory insufficiency, Cough, Ret... ORPHA:133
Ciliary Dyskinesia, Primary, 48, Without Situs Inversus
Recurrent sinusitis, Bronchiectasis, Recurrent pneumonia, Recurrent otitis media OMIM:620032
Polyendocrine-Polyneuropathy Syndrome
Hypoglycemia, Hypogonadism, Central hypothyroidism OMIM:616113
Hyperinsulinism Due To Hnf1A Deficiency
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Small for gestational age, Maturity-onset diabet... ORPHA:324575
Growth Hormone Insensitivity Syndrome
Failure to thrive, Type II diabetes mellitus, Truncal obesity, Hypoglycemia, Hypogonadism, Insuli... ORPHA:181393
Ciliary Dyskinesia, Primary, 29
Bronchiectasis, Decreased nasal nitric oxide, Ciliary dyskinesia, Recurrent respiratory infections OMIM:615872
Obesity Due To Congenital Leptin Deficiency
Hyperinsulinemia, Decreased serum testosterone concentration, Hypoplasia of the ovary, Hypergonad... ORPHA:66628
Cidec-Related Familial Partial Lipodystrophy
Decreased serum leptin, Insulin-resistant diabetes mellitus, Decreased adiponectin level ORPHA:435651
Fructose And Galactose Intolerance
Hypoglycemia OMIM:229500
Lipe-Related Familial Partial Lipodystrophy
Insulin resistance, Decreased serum leptin, Insulin-resistant diabetes mellitus, Decreased adipon... ORPHA:435660
Immunodeficiency 65, Susceptibility To Viral Infections
Recurrent gastroenteritis, Recurrent viral infections, Stomatitis, Bronchiectasis OMIM:618648
Ciliary Dyskinesia, Primary, 11
Chronic bronchitis, Recurrent sinusitis, Chronic rhinitis, Ciliary dyskinesia, Bronchiectasis, Ne... OMIM:612649
Obesity Due To Leptin Receptor Gene Deficiency
Hyperinsulinemia, Decreased serum testosterone concentration, Hypoplasia of the ovary, Hypergonad... ORPHA:179494
Cholesterol Pneumonia
Pneumonia, Cough, Tachypnea OMIM:215030
Pleural Mesothelioma
Respiratory distress, Abnormal pleura morphology, Cough, Abnormal lung morphology, Pleural effusi... ORPHA:50251
Muscular Hypertonia, Lethal
Respiratory distress, Pneumonia OMIM:254120
Ciliary Dyskinesia, Primary, 45
Chronic rhinitis, Immotile cilia, Recurrent respiratory infections, Bronchiectasis OMIM:618801
Isolated Agammaglobulinemia
Failure to thrive, Sinusitis, Skin rash, Otitis media, Sepsis, Arthritis, Meningitis, Pneumonia, ... ORPHA:229717
Immunodeficiency 52
Failure to thrive, Chronic lung disease, Recurrent pneumonia, Recurrent infections, Bronchiectasi... OMIM:617514
Immunodeficiency, Common Variable, 1
Recurrent bacterial infections, Recurrent sinusitis, Recurrent bronchitis, Recurrent pneumonia, P... OMIM:607594
Ciliary Dyskinesia, Primary, 24
Sinusitis, Recurrent sinusitis, Ciliary dyskinesia, Bronchiectasis, Rhinitis OMIM:615481
Leptin Deficiency Or Dysfunction
Obesity, Decreased serum leptin, Hypogonadism OMIM:614962
Severe Combined Immunodeficiency, X-Linked
Failure to thrive, Recurrent fungal infections, Chronic oral candidiasis, Skin rash, Recurrent pn... OMIM:300400
Ciliary Dyskinesia, Primary, 20
Respiratory insufficiency due to defective ciliary clearance, Cough, Recurrent sinusitis, Ciliary... OMIM:615067
Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome
Aspiration pneumonia, Failure to thrive OMIM:609528
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Recurrent candida infections, Chronic oral candidiasis, Otitis media, Hepatitis, Recurrent infect... ORPHA:169160
Pulmonary Alveolar Proteinosis, Acquired
Brain abscess, Intraalveolar phospholipid accumulation, Decreased DLCO, Cough, Restrictive ventil... OMIM:610910
Ciliary Dyskinesia, Primary, 26
Bronchiectasis, Respiratory insufficiency due to defective ciliary clearance, Chronic bronchitis,... OMIM:615500
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Hypoglycemia, Impaired gluconeogenesis OMIM:261650
Mantle Cell Lymphoma
Weight loss ORPHA:52416
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Chronic gastritis, Rheumatoid arthritis, Sepsis, Epididymitis, Chronic sinusitis, Pneumonia, Recu... ORPHA:183675
Ciliary Dyskinesia, Primary, 25
Sinusitis, Chronic pulmonary obstruction, Recurrent sinusitis, Ciliary dyskinesia, Bronchiectasis... OMIM:615482
Surfactant Metabolism Dysfunction, Pulmonary, 2
Respiratory distress, Absent bronchoalveolar surfactant-protein C, Desquamative interstitial pneu... OMIM:610913
Mitochondrial Complex Iii Deficiency, Nuclear Type 3
Hypoglycemia OMIM:615158
Reticular Dysgenesis
Failure to thrive, Skin rash, Sepsis, Chronic otitis media, Weight loss, Recurrent respiratory in... ORPHA:33355
Thymic Aplasia
Recurrent streptococcus pneumoniae infections, Recurrent infection of the gastrointestinal tract,... ORPHA:83471
Ciliary Dyskinesia, Primary, 5
Bronchiectasis, Respiratory insufficiency due to defective ciliary clearance, Chronic bronchitis,... OMIM:608647
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Reactive hypoglycemia,... ORPHA:276608
Immunodeficiency, Common Variable, 12, With Autoimmunity
Chronic pulmonary obstruction, Recurrent skin infections, Recurrent sinusitis, Recurrent pneumoni... OMIM:616576
Bullous Pemphigoid
Weight loss, Eczema, Recurrent infections, Psoriasiform dermatitis ORPHA:703
Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive
Recurrent skin infections, Eczema, Atopic dermatitis, Chronic mucocutaneous candidiasis, Recurren... OMIM:618282
Hyperinsulinism-Hyperammonemia Syndrome
Reactive hypoglycemia, Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia ORPHA:35878
Caspase 8 Deficiency
Failure to thrive, Asthma, Eczema, Pneumonia, Recurrent herpes, Recurrent sinopulmonary infections OMIM:607271
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Respiratory distress, Chronic otitis media, Abnormal mucociliary clearance, Bronchiectasis, Recur... OMIM:619466
Glucocorticoid Deficiency 1
Failure to thrive, Decreased circulating cortisol level, Increased circulating ACTH level, Abnorm... OMIM:202200
Ciliary Dyskinesia, Primary, 35
Cough, Chronic rhinitis, Chronic sinusitis, Bronchiectasis, Recurrent respiratory infections OMIM:617092
Multicentric Reticulohistiocytosis
Cachexia, Arthritis ORPHA:139436
Ciliary Dyskinesia, Primary, 43
Recurrent upper respiratory tract infections, Recurrent lower respiratory tract infections, Chron... OMIM:618699
Facioscapulohumeral Muscular Dystrophy 3, Digenic
Aspiration pneumonia OMIM:619477
Neonatal Alloimmune Neutropenia
Severe infection, Sepsis, Meningitis, Pneumonia ORPHA:464370
Immunodeficiency 75
Bronchiectasis, Recurrent respiratory infections, Persistent EBV viremia OMIM:619126
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Postprandial hyperglycemia, Hyperinsulinemia, Precocious puberty, Small for gestational age, Diab... OMIM:262190
Interstitial Lung Disease 1
Interlobular septal thickening, Crackles, Decreased DLCO, Cough, Elevated bronchoalveolar lavage ... OMIM:619611
Immunodeficiency 77
Chronic pulmonary obstruction, Recurrent tonsillitis, Bronchiectasis, Cutaneous abscess, Nontuber... OMIM:619223
Pituitary Hormone Deficiency, Combined, 2
Adrenal insufficiency, Reduced circulating prolactin concentration, Panhypopituitarism, Hypothyro... OMIM:262600
Felty Syndrome
Sinusitis, Sepsis, Recurrent urinary tract infections, Chronic otitis media, Pericarditis, Arthri... ORPHA:47612
Bare Lymphocyte Syndrome, Type I
Chronic otitis media, Bronchiolitis, Recurrent bronchitis, Chronic sinusitis, Emphysema, Bronchie... OMIM:604571
Ciliary Dyskinesia, Primary, 34
Bronchiectasis, Recurrent sinusitis, Chronic rhinitis, Recurrent bronchitis, Reduced respiratory ... OMIM:617091
Ciliary Dyskinesia, Primary, 15
Bronchiectasis, Chronic bronchitis, Cough, Wheezing, Chronic sinusitis, Recurrent pneumonia, Cili... OMIM:613808
Hereditary Pulmonary Alveolar Proteinosis
Respiratory distress, Crazy paving pattern, Crackles, Acute infectious pneumonia, Tachypnea, Resp... ORPHA:264675
Immunodeficiency With Hyper-Igm, Type 4
Osteomyelitis, Recurrent infection of the gastrointestinal tract, Recurrent bacterial infections,... OMIM:608184
Insulin-Resistance Syndrome Type B
Postprandial hyperglycemia, Glucose intolerance, Increased serum testosterone level, Type II diab... ORPHA:2298
Tracheobronchopathia Osteochondroplastica
Respiratory insufficiency, Wheezing, Bronchitis, Recurrent pneumonia, Esophagitis, Pneumonia, Upp... ORPHA:3348
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive
Respiratory distress, Failure to thrive, Lymphocytic interstitial pneumonia OMIM:245590
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Elevated circulating growth hormone concentration, Hyperinsulinemic hypoglycemia, Increased circu... ORPHA:79644
Ciliary Dyskinesia, Primary, 12
Chronic pulmonary obstruction, Chronic otitis media, Chronic rhinitis, Chronic sinusitis, Ciliary... OMIM:612650
Familial Nasal Acilia
Respiratory distress, Recurrent upper respiratory tract infections, Chronic rhinitis, Chronic sin... ORPHA:922
Lymphoid Interstitial Pneumonia
Failure to thrive, Pulmonary venous hypertension, Subpleural interstitial thickening, Multiple pu... ORPHA:79128
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Severe varicella zoster infection, Recurrent sinusitis, Recurrent bronchitis, Recurrent otitis me... OMIM:300853
Combined Oxidative Phosphorylation Deficiency 34
Hypoglycemia, Primary adrenal insufficiency, Failure to thrive, Hypogonadism OMIM:617872
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypoglycemia ORPHA:366
Idiopathic Pulmonary Fibrosis
Crackles, Reticular pattern on pulmonary HRCT, Abnormal pulmonary interstitial morphology, Cough,... ORPHA:2032
Progressive Nodular Histiocytosis
Cachexia ORPHA:158022
Combined Immunodeficiency Due To Zap70 Deficiency
Recurrent mycobacterial infections, Failure to thrive, Recurrent upper and lower respiratory trac... ORPHA:911
Glycogen Storage Disease Vi
Hypoglycemia, Failure to thrive in infancy OMIM:232700
Ciliary Dyskinesia, Primary, 13
Recurrent sinusitis, Recurrent bronchitis, Ciliary dyskinesia, Recurrent otitis media, Bronchiect... OMIM:613193
Microlissencephaly
Pneumonia ORPHA:1083
Ciliary Dyskinesia, Primary, 19
Respiratory insufficiency due to defective ciliary clearance, Chronic bronchitis, Recurrent sinus... OMIM:614935
Immunodeficiency 57 With Autoinflammation
Failure to thrive, Gastritis, Skin rash, Chronic lung disease, Inflammation of the large intestin... OMIM:618108
Pemphigus Vulgaris
Weight loss, Recurrent infections, Recurrent cutaneous abscess formation ORPHA:704
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Glomerulonephritis, Pneumonia OMIM:247800
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Sinusitis, Prostatitis, Enteroviral dermatomyositis syndrome, Pyoderma, Enteroviral hepatitis, Re... OMIM:307200
Pfapa Syndrome
Weight loss, Recurrent pharyngitis, Infectious encephalitis, Arthritis ORPHA:42642
Combined Oxidative Phosphorylation Deficiency 51
Aspiration pneumonia, Respiratory failure, Neonatal respiratory distress, Small for gestational age OMIM:619057
Ciliary Dyskinesia, Primary, 30
Asthma, Respiratory insufficiency due to defective ciliary clearance, Chronic bronchitis, Respira... OMIM:616037
Autosomal Agammaglobulinemia
Failure to thrive, Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections, Sepsis, Chroni... ORPHA:33110
Immunodeficiency 13
Bronchiolitis obliterans organizing pneumonia, Recurrent upper respiratory tract infections, Recu... OMIM:615518
Retinal Dystrophy And Microvillus Inclusion Disease
Recurrent lower respiratory tract infections, Recurrent upper respiratory tract infections, Bronc... OMIM:619446
Ciliary Dyskinesia, Primary, 17
Cough, Chronic rhinitis, Ciliary dyskinesia, Chronic sinusitis, Bronchiectasis, Recurrent respira... OMIM:614679
Ciliary Dyskinesia, Primary, 14
Bronchiectasis, Chronic bronchitis, Otitis media, Wheezing, Cough, Chronic sinusitis, Recurrent p... OMIM:613807
Inflammatory Bowel Disease (Crohn Disease) 1
Crohn's disease, Inflammation of the large intestine, Recurrent aphthous stomatitis, Ulcerative c... OMIM:266600
Undifferentiated Pleomorphic Sarcoma
Weight loss ORPHA:2023
X-Linked Agammaglobulinemia
Failure to thrive, Sinusitis, Osteomyelitis, Skin rash, Sepsis, Chronic otitis media, Arthritis, ... ORPHA:47
Immunodeficiency 72 With Autoinflammation
Herpes simplex encephalitis, Recurrent infections, Recurrent otitis media, Bronchiectasis, Mollus... OMIM:618982
Immunodeficiency 62
Bronchiectasis OMIM:618459
Laryngeal Neuroendocrine Tumor
Exertional dyspnea, Weight loss ORPHA:100083
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Failure to thrive, Recurrent bacterial skin infections, Chronic oral candidiasis, Recurrent cutan... ORPHA:276
Inflammatory Bowel Disease 11
Weight loss, Inflammation of the large intestine OMIM:191390
Rigid Spine Syndrome
Respiratory insufficiency, Abnormality on pulmonary function testing, Pneumonia ORPHA:97244
Focal Myositis
Weight loss, Myositis ORPHA:48918
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive
Asthma, Recurrent fungal infections, Eosinophilic infiltration of the esophagus, Recurrent bacter... OMIM:243700
Aspergillosis
Keratitis, Unusual CNS infection, Invasive pulmonary aspergillosis, Abnormality on pulmonary func... ORPHA:1163
Cleft Velum
Aspiration pneumonia, Recurrent otitis media ORPHA:99772
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy
Cachexia ORPHA:1216
Acute Myelomonocytic Leukemia
Dyspnea, Weight loss ORPHA:517
Alpha-1-Antitrypsin Deficiency
Panacinar emphysema, Chronic pulmonary obstruction, Chronic bronchitis, Wheezing, Cough, Bronchie... OMIM:613490
Ciliary Dyskinesia, Primary, 22
Bronchiectasis, Respiratory insufficiency due to defective ciliary clearance, Chronic bronchitis,... OMIM:615444
Laryngeal Abductor Paralysis-Intellectual Disability Syndrome
Bronchiectasis, Neonatal asphyxia, Congenital laryngeal stridor ORPHA:2375
Follicular Lymphoma
Meningitis, Weight loss, Pleural effusion ORPHA:545
Acute Lung Injury
Respiratory distress, Sepsis, Abnormal pulmonary interstitial morphology, Tachypnea, Acute pancre... ORPHA:178320
Melioidosis
Unusual skin infection, Prostatitis, Sepsis, Osteoarthritis, Brain abscess, Acute infectious pneu... ORPHA:31202
Ciliary Dyskinesia, Primary, 16
Chronic otitis media, Chronic rhinitis, Ciliary dyskinesia, Chronic sinusitis, Bronchiectasis, Ab... OMIM:614017
Mody
Glucose intolerance, Hypoinsulinemia, Hyperinsulinemic hypoglycemia, Abnormal circulating insulin... ORPHA:552
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Recurrent oral herpes, Recurrent lower respiratory tract infections, Recurrent otitis media, Bron... OMIM:619220
T-Cell Immunodeficiency With Thymic Aplasia
Failure to thrive, Eczematoid dermatitis, Recurrent bronchopulmonary infections, Pyoderma, Recurr... OMIM:242700
Staphylococcal Necrotizing Pneumonia
Respiratory distress, Nonproductive cough, Severe infection, Sepsis, Pleural empyema, Acute infec... ORPHA:36238
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature
Recurrent lower respiratory tract infections, Recurrent upper respiratory tract infections, Bronc... OMIM:615139
Blue Diaper Syndrome
Decreased circulating T4 concentration, Increased body weight, Elevated circulating thyroid-stimu... ORPHA:94086
Immunodeficiency 14A, Autosomal Dominant
Bronchiectasis, Recurrent sinopulmonary infections, Recurrent respiratory infections, Recurrent e... OMIM:615513
Selective Igm Deficiency
Keratitis, Onychomycosis, Recurrent infection of the gastrointestinal tract, Otitis media, Rheuma... ORPHA:331235
Infant Acute Respiratory Distress Syndrome
Pulmonary edema, Sepsis, Tachypnea, Pneumonia, Respiratory tract infection, Hypoxemia, Respirator... ORPHA:70587
Intestinal Dysmotility Syndrome
Failure to thrive, Weight loss OMIM:620045
Cryptogenic Organizing Pneumonia
Respiratory distress, Hypoxemia, Nonproductive cough, Crackles, Wheezing, Cough, Restrictive vent... ORPHA:1302
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Respiratory distress, Failure to thrive, Weight loss, Cachexia OMIM:612075
Isaacs Syndrome
Weight loss ORPHA:84142
Immunodeficiency, Common Variable, 2
Recurrent bacterial infections, Recurrent sinusitis, Meningitis, Recurrent bronchitis, Recurrent ... OMIM:240500
Chronic Hiccup
Weight loss ORPHA:396
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Cachexia, Recurrent respiratory infections ORPHA:1389
Huntington Disease-Like 2
Weight loss ORPHA:98934
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Aspiration pneumonia, Cough, Respiratory failure requiring assisted ventilation, Dyspnea, Respira... ORPHA:90117
Proprotein Convertase 1/3 Deficiency
Reactive hypoglycemia, Hypogonadotropic hypogonadism, Obesity, Decreased circulating cortisol level OMIM:600955
Infantile Osteopetrosis With Neuroaxonal Dysplasia
Pneumonia ORPHA:85179
Omenn Syndrome
Failure to thrive, Recurrent fungal infections, Recurrent bacterial infections, Pneumonia, Erythr... OMIM:603554
Hodgkin Lymphoma
Dyspnea, Weight loss, Cough ORPHA:98293
Congenital Disorder Of Glycosylation, Type Iic
Bronchiolitis, Periodontitis, Pneumonia, Recurrent otitis media OMIM:266265
Immunodeficiency, Common Variable, 8, With Autoimmunity
Failure to thrive, Bronchiectasis, Colitis, Asthma, Conjunctivitis, Thyroiditis, Sepsis, Atrophic... OMIM:614700
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome
Cachexia ORPHA:1144
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Failure to thrive, Lymphocytic interstitial pneumonia, Recurrent urinary tract infections, Recurr... OMIM:618495
Severe Acute Respiratory Syndrome
Respiratory distress, Chronic lung disease, Acute infectious pneumonia, Respiratory failure requi... ORPHA:140896
Panbronchiolitis, Diffuse
Rhonchi, Crackles, Wheezing, Cough, Bronchiectasis, Hypoxemia OMIM:604809
Immunodeficiency 58
Onychomycosis, Eczema, Helicobacter pylori infection, Colitis, Chronic bronchitis, Esophagitis, C... OMIM:618131
Mulibrey Nanism
Cachexia ORPHA:2576
Surfactant Metabolism Dysfunction, Pulmonary, 3
Respiratory distress, Apnea, Absent bronchoalveolar surfactant-protein C, Desquamative interstiti... OMIM:610921
Generalized Pseudohypoaldosteronism Type 1
Recurrent upper and lower respiratory tract infections, Osteomyelitis, Pustule, Recurrent tonsill... ORPHA:171876
Acth Deficiency, Isolated
Fasting hypoglycemia, Adrenal hypoplasia, Adrenocorticotropic hormone deficiency, Decreased circu... OMIM:201400
Yao Syndrome
Asthma, Inflammatory abnormality of the skin, Skin rash, Keratoconjunctivitis sicca, Arthritis, P... OMIM:617321
Tularemia
Respiratory distress, Conjunctivitis, Skin rash, Otitis media, Brain abscess, Cough, Meningitis, ... ORPHA:3392
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Hypoglycemia, Failure to thrive, Precocious puberty, Congenital hypothyroidism OMIM:614736
Idiopathic Chronic Eosinophilic Pneumonia
Asthma, Nonproductive cough, Atopic dermatitis, Crackles, Wheezing, Restrictive ventilatory defec... ORPHA:2902
Adult Acute Respiratory Distress Syndrome
Abnormal blood gas level, Pulmonary edema, Pancreatitis, Sepsis, Pneumonia, Hypoxemia, Dyspnea, R... ORPHA:70578
Ciliary Dyskinesia, Primary, 38
Chronic otitis media, Cough, Chronic sinusitis, Bronchiectasis, Neonatal respiratory distress, Rh... OMIM:618063
Agammaglobulinemia 1, Autosomal Recessive
Failure to thrive, Recurrent bacterial infections, Recurrent sinusitis, Recurrent pneumonia, Recu... OMIM:601495
Whim Syndrome 1
Bronchiectasis, Recurrent bacterial infections, Recurrent upper respiratory tract infections OMIM:193670
Immunodeficiency 27A
Abnormal bronchus physiology, Increased inflammatory response, Pneumonia, Salmonella osteomyeliti... OMIM:209950
Polyendocrine-Polyneuropathy Syndrome
Type II diabetes mellitus, Decreased serum testosterone concentration, Hypoinsulinemia, Hypogonad... ORPHA:453533
Sarcoidosis, Susceptibility To, 2
Bronchiectasis, Elevated bronchoalveolar lavage fluid lymphocyte proportion, Hypoxemia, Abnormal ... OMIM:612387
Autosomal Dominant Severe Congenital Neutropenia
Periodontitis, Recurrent infection of the gastrointestinal tract, Rhinitis, Recurrent skin infect... ORPHA:486
Purine Nucleoside Phosphorylase Deficiency
Failure to thrive, Sinusitis, Otitis media, Recurrent bacterial infections, Recurrent opportunist... OMIM:613179
Nocardiosis
Keratitis, Respiratory distress, Unusual CNS infection, Sepsis, Lymphadenitis, Pneumonia, Pericar... ORPHA:31204
Oculopharyngodistal Myopathy
Respiratory insufficiency due to muscle weakness, Recurrent aspiration pneumonia, Weight loss, Re... ORPHA:98897
Drug Reaction With Eosinophilia And Systemic Symptoms
Pustule, Skin rash, Interstitial pneumonitis, Myocarditis, Cough, Hepatitis, Tubulointerstitial n... ORPHA:139402
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Insulin resistance, Decreased adiponectin level, Decreased serum leptin, Diabetes mellitus ORPHA:280365
Combined Immunodeficiency Due To Crac Channel Dysfunction
Recurrent mycobacterial infections, Recurrent fungal infections, Sepsis, Recurrent bacterial infe... ORPHA:169090
3-Methylcrotonyl-Coa Carboxylase Deficiency
Hypoglycemia, Failure to thrive in infancy ORPHA:6
Pseudomyxoma Peritonei
Respiratory insufficiency, Weight loss, Inflammation of the large intestine ORPHA:26790
Ciliary Dyskinesia, Primary, 2
Respiratory distress, Sinusitis, Otitis media, Ciliary dyskinesia, Bronchiectasis, Immotile cilia... OMIM:606763
Post-Traumatic Pituitary Deficiency
Abnormal prolactin level, Decreased response to growth hormone stimulation test, Hypogonadotropic... ORPHA:95619
Galactose Epimerase Deficiency
Weight loss ORPHA:79238
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Slender build, Cachexia, Weight loss OMIM:613662
X-Linked Centronuclear Myopathy
Respiratory distress, Respiratory failure requiring assisted ventilation, Recurrent respiratory i... ORPHA:596
Simpson-Golabi-Behmel Syndrome, Type 2
Obesity, Recurrent upper respiratory tract infections, Pneumonia OMIM:300209
Fusariosis
Keratitis, Onychomycosis, Unusual CNS infection, Osteomyelitis, Sinusitis, Maculopapular exanthem... ORPHA:228119
Pituitary Stalk Interruption Syndrome
Failure to thrive, Abnormality of the hypothalamus-pituitary axis, Hypoglycemia, Adrenal hypoplas... ORPHA:95496
Pyomyositis
Sepsis, Myositis, Recurrent infections, Weight loss, Recurrent cutaneous abscess formation ORPHA:764
Hirschsprung Disease
Weight loss, Failure to thrive in infancy, Sepsis ORPHA:388
Diencephalic Syndrome
Cachexia, Decreased body weight ORPHA:1672
Avian Influenza
Respiratory distress, Conjunctivitis, Nonproductive cough, Sepsis, Myelitis, Tachypnea, Cough, Pn... ORPHA:454836
Diffuse Alveolar Hemorrhage
Irregular septal thickening on pulmonary HRCT, Airway obstruction, Increased DLCO, Pulmonary veno... ORPHA:90060
Malignant Peritoneal Mesothelioma
Dyspnea, Weight loss, Peritonitis ORPHA:168811
Rat-Bite Fever
Oligoarthritis, Pancreatitis, Pustule, Skin rash, Maculopapular exanthema, Sepsis, Lymphadenitis,... ORPHA:31205
Congenital Isolated Acth Deficiency
Decreased circulating cortisol level, Adrenal hypoplasia, Hypoglycemic seizures, Adrenocorticotro... ORPHA:199296
Perry Syndrome
Central hypoventilation, Weight loss ORPHA:178509
Anaplastic Thyroid Carcinoma
Respiratory distress, Neoplasm of the lung, Cough, Upper airway obstruction, Dyspnea, Weight loss... ORPHA:142
Bacterial Toxic-Shock Syndrome
Respiratory distress, Sepsis, Myocarditis, Severe viral infection, Pneumonia, Septic arthritis, O... ORPHA:36234
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Hypoglycemia, Adrenogenital syndrome, Adrenal hyperplasia OMIM:201910
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Failure to thrive, Recurrent upper respiratory tract infections, Recurrent lower respiratory trac... OMIM:600802
Huntington Disease-Like 2
Weight loss OMIM:606438
Eosinophilic Fasciitis
Weight loss, Fasciitis, Myositis, Arthritis ORPHA:3165
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Recurrent gastroenteritis, Respiratory distress, Gastritis, Sepsis, Eczema, Pneumonia, Failure to... ORPHA:37042
Ciliary Dyskinesia, Primary, 1
Chronic otitis media, Chronic rhinitis, Recurrent bronchitis, Ciliary dyskinesia, Chronic sinusit... OMIM:244400
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Weight loss ORPHA:86893
Autosomal Dominant Epidermolytic Ichthyosis
Erythroderma, Weight loss ORPHA:312
Granulomatosis With Polyangiitis
Keratitis, Sinusitis, Conjunctivitis, Respiratory insufficiency, Chronic otitis media, Hemosideri... OMIM:608710
Systemic Capillary Leak Syndrome
Pancreatitis, Pulmonary edema, Myocarditis, Pericarditis, Cough, Rhinorrhea, Pleural effusion, Ca... ORPHA:188
Moynahan Syndrome
Cachexia ORPHA:2574
Majeed Syndrome
Failure to thrive, Osteomyelitis, Inflammatory abnormality of the skin, Pustule, Cachexia, Abnorm... ORPHA:77297
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Chronic oral candidiasis, Recurrent pneumonia, Recurrent aphthous stomatitis, Recurrent infection... OMIM:150550
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Failure to thrive, Sinusitis, Chronic bronchitis, Pneumonia, Bronchiectasis OMIM:242860
Riddle Syndrome
Otitis media, Neonatal asphyxia, Abnormal pulmonary interstitial morphology, Arthritis, Recurrent... ORPHA:420741
Immunodeficiency 92
Osteomyelitis, Recurrent oral herpes, Sclerosing cholangitis, Pneumonia, Esophagitis, Cholangitis... OMIM:619652
Kaposi Sarcoma
Recurrent herpes, Abnormal lung morphology, Weight loss, Skin rash ORPHA:33276
Timothy Syndrome
Bronchitis, Recurrent infections, Pneumonia OMIM:601005
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Enterocolitis, Interstitial pneumonitis, Bronchiolitis, Ulcerative colitis, Recurrent sinopulmona... OMIM:614878
Microsporidiosis
Keratitis, Pancreatitis, Sepsis, Lymphadenitis, Myocarditis, Pneumonia, Weight loss, Rhinitis, Pr... ORPHA:2552
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Chronic pulmonary obstruction, Chronic bronchitis, Sepsis, Lymphadenitis, Severe varicella zoster... OMIM:618986
Thymic Carcinoma
Dyspnea, Weight loss, Cough ORPHA:99868
Congenital Tracheomalacia
Apnea, Decreased peak expiratory flow, Pulmonary hypoplasia, Pneumonia, Tracheomalacia, Wheezing,... ORPHA:95430
Peritoneal Cystic Mesothelioma
Weight loss, Peritonitis ORPHA:168816
Common Variable Immunodeficiency
Emphysema, Otitis media, Chronic otitis media, Recurrent bronchitis, Pneumonia, Restrictive venti... ORPHA:1572
Graft Versus Host Disease
Recurrent gastroenteritis, Failure to thrive, Inflammatory abnormality of the skin, Maculopapular... ORPHA:39812
Cap Polyposis
Atrophic gastritis, Weight loss ORPHA:160148
Autoimmune Pulmonary Alveolar Proteinosis
Crazy paving pattern, Crackles, Intraalveolar phospholipid accumulation, Cough, Decreased DLCO, R... ORPHA:747
Nephronophthisis-Like Nephropathy 2
Bronchiectasis, Recurrent respiratory infections, Cough OMIM:619468
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Weight loss ORPHA:2198
Bone Dysplasia, Lethal Holmgren Type
Failure to thrive, Weight loss, Respiratory insufficiency, Recurrent respiratory infections ORPHA:1842
Whim Syndrome
Sinusitis, Otitis media, Sepsis, Recurrent bacterial infections, Recurrent upper respiratory trac... ORPHA:51636
Erythrokeratodermia Variabilis
Weight loss, Skin rash ORPHA:317
Hereditary Central Diabetes Insipidus
Weight loss ORPHA:30925
Holocarboxylase Synthetase Deficiency
Respiratory distress, Eczema, Keratoconjunctivitis, Tachypnea, Perioral eczema, Weight loss ORPHA:79242
Congenital Muscular Dystrophy Due To Lmna Mutation
Cachexia, Respiratory insufficiency ORPHA:157973
Polyarteritis Nodosa
Abnormal lung morphology, Weight loss, Pleuritis, Pericarditis ORPHA:767
Postinfectious Vasculitis
Recurrent streptococcus pneumoniae infections, Severe viral infection, Increased inflammatory res... ORPHA:48435
Bronchogenic Cyst
Abnormal pleura morphology, Cough, Pneumonia, Chronic infection, Dyspnea, Bronchogenic cyst, Pulm... ORPHA:2357
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency
Interstitial pneumonitis, Intraalveolar phospholipid accumulation, Chronic lung disease, Abnormal... ORPHA:217563
Classic Hodgkin Lymphoma
Respiratory insufficiency, Weight loss, Skin rash, Cough ORPHA:391
Slc35A1-Cdg
Respiratory distress, Pulmonary hemorrhage, Hypoxemia, Pneumonia ORPHA:238459
Yellow Nail Syndrome
Sinusitis, Rhinitis, Neoplasm of the lung, Cough, Pleuritis, Bronchiectasis, Dyspnea, Pulmonary a... ORPHA:662
Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant
Asthma, Recurrent skin infections, Recurrent upper respiratory tract infections, Atopic dermatiti... OMIM:619752
Galactokinase Deficiency
Failure to thrive, Hyperinsulinemia, Small for gestational age, Hypergonadotropic hypogonadism, H... ORPHA:79237
Combined Oxidative Phosphorylation Deficiency 41
Hypoglycemia, Decreased circulating cortisol level OMIM:618838
Immunodeficiency 43
Bronchiectasis, Recurrent respiratory infections OMIM:241600
Takayasu Arteritis
Arthritis, Increased inflammatory response, Abnormal pattern of respiration, Weight loss, Pulmona... ORPHA:3287
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Failure to thrive, Asthma, Recurrent fungal infections, Inflammatory abnormality of the skin, Sin... OMIM:102700
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Osteomyelitis, Skin rash, Palmoplantar pustulosis, Inflammation of the large intestine, Arthritis... ORPHA:324964
Bronchial Neuroendocrine Tumor
Asthma, Nonproductive cough, Bronchospasm, Abnormal pulmonary interstitial morphology, Wheezing, ... ORPHA:97287
Classic Pantothenate Kinase-Associated Neurodegeneration
Aspiration pneumonia, Weight loss, Cough ORPHA:216866
Q Fever
Respiratory distress, Unusual infection, Osteomyelitis, Maculopapular exanthema, Endocarditis, My... ORPHA:781
Pulmonary Alveolar Microlithiasis
Interlobular septal thickening, Oxygen desaturation on exertion, Increased pulmonary vascular res... ORPHA:60025
Deafness-Lymphedema-Leukemia Syndrome
Weight loss, Respiratory failure, Chronic otitis media, Recurrent respiratory infections ORPHA:3226
Omenn Syndrome
Failure to thrive, Sepsis, Pneumonia, Erythroderma, Thyroiditis ORPHA:39041
Agammaglobulinemia, X-Linked
Bronchiectasis, Prostatitis, Bronchiolitis obliterans, Enteroviral dermatomyositis syndrome, Pyod... OMIM:300755
Mu-Heavy Chain Disease
Weight loss ORPHA:100024
Orthostatic Hypotension 2
Hypoglycemia OMIM:618182
Sporadic Creutzfeldt-Jakob Disease
Recurrent aspiration pneumonia, Sepsis, Recurrent infections, Respiratory failure requiring assis... ORPHA:204
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Crohn's disease, Sepsis, Eczema, Recurrent upper respiratory tract infections, Atrophic gastritis... OMIM:616100
Reactive Arthritis
Osteomyelitis, Conjunctivitis, Pustule, Respiratory insufficiency, Recurrent urinary tract infect... ORPHA:29207
Primary Ciliary Dyskinesia
Recurrent mycobacterial infections, Airway obstruction, Anomalous pulmonary venous return, Chroni... ORPHA:244
Mast Cell Sarcoma
Weight loss ORPHA:66661
Hypoadrenocorticism, Familial
Hypoglycemia, Adrenal hypoplasia, Adrenal insufficiency OMIM:240200
Acute Interstitial Pneumonia
Interlobular septal thickening, Subpleural honeycombing, Nodular pattern on pulmonary HRCT, Nonpr... ORPHA:79126
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Failure to thrive, Otitis media, Sepsis, Recurrent upper respiratory tract infections, BCGitis, P... OMIM:602450
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy
Recurrent aspiration pneumonia OMIM:619971
Ciliary Dyskinesia, Primary, 37
Chronic rhinitis, Bronchiectasis, Rhinorrhea, Wheezing OMIM:617577
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Recurrent gastroenteritis, Pulmonary hemorrhage, Cough, Recurrent aspiration pneumonia, Recurrent... ORPHA:79124
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Recurrent aspiration pneumonia, Respiratory failure, Respiratory insufficiency due to muscle weak... ORPHA:2590
Nephroblastoma
Weight loss, Neoplasm of the lung ORPHA:654
Gaucher Disease, Type Ii
Failure to thrive, Apnea, Recurrent aspiration pneumonia OMIM:230900
Meconium Aspiration Syndrome
Respiratory distress, Hypoxemia, Aspiration pneumonia, Wheezing, Pneumothorax, Neonatal asphyxia,... ORPHA:70588
Bloom Syndrome
Abdominal obesity, Recurrent gastroenteritis, Cheilitis, Chronic pulmonary obstruction, Skin rash... ORPHA:125
Acquired Central Diabetes Insipidus
Weight loss ORPHA:95626
Central Diabetes Insipidus
Failure to thrive, Weight loss ORPHA:178029
Eosinophilic Granulomatosis With Polyangiitis
Asthma, Sinusitis, Skin rash, Recurrent intrapulmonary hemorrhage, Respiratory insufficiency, End... ORPHA:183
Amoebiasis Due To Entamoeba Histolytica
Acute colitis, Pleural empyema, Constrictive pericarditis, Cough, Pleural effusion, Dyspnea, Weig... ORPHA:67
Attrv30M Amyloidosis
Weight loss ORPHA:85447
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Abnormal lung morphology, Weight loss, Brain abscess ORPHA:54251
Eosinophilic Gastroenteritis
Asthma, Weight loss, Allergic rhinitis, Atopic dermatitis ORPHA:2070
Juvenile Huntington Disease
Weight loss ORPHA:248111
Rhabdoid Tumor
Respiratory insufficiency, Weight loss ORPHA:69077
Ornithine Transcarbamylase Deficiency
Hypoglycemia ORPHA:664
Pelizaeus-Merzbacher Disease
Cachexia, Respiratory insufficiency, Failure to thrive in infancy, Recurrent respiratory infections ORPHA:702
Leukocyte Adhesion Deficiency
Otitis media, Sepsis, Severe periodontitis, Pneumonia, BCGosis, Osteomyelitis, Recurrent tonsilli... ORPHA:2968
Benign Recurrent Intrahepatic Cholestasis
Weight loss, Pancreatitis ORPHA:65682
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Sepsis, Interstitial pneumonitis ORPHA:231154
Immunodeficiency 23
Failure to thrive, Asthma, Eczema, Membranoproliferative glomerulonephritis, Severe varicella zos... OMIM:615816
Inflammatory Pseudotumor Of The Liver
Weight loss ORPHA:90003
Desmoplastic Small Round Cell Tumor
Cachexia, Weight loss, Neoplasm of the lung ORPHA:83469
Riboflavin Transporter Deficiency
Cachexia, Respiratory insufficiency, Sleep apnea ORPHA:97229
Pgm3-Cdg
Failure to thrive, Asthma, Recurrent fungal infections, Osteomyelitis, Recurrent skin infections,... ORPHA:443811
Wilson Disease
Failure to thrive, Acute hepatitis, Arthritis, Hepatitis, Increased body weight, Weight loss ORPHA:905
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Failure to thrive, Sepsis, Recurrent upper respiratory tract infections, Recurrent sinusitis, Rec... ORPHA:293978
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hypoglycemia, Glycosuria, Large for gestational age, Diabetes mellitus OMIM:616026
Polymyositis
Respiratory insufficiency, Abnormal pulmonary interstitial morphology, Arthritis, Pericarditis, C... ORPHA:732
Ménétrier Disease
Giant hypertrophic gastritis, Weight loss, Helicobacter pylori infection ORPHA:2494
Perry Syndrome
Respiratory arrest, Central hypoventilation, Respiratory insufficiency, Weight loss, Hypoventilation OMIM:168605
Hypercalcemia, Infantile, 1
Failure to thrive, Weight loss OMIM:143880
Subcutaneous Panniculitis-Like T-Cell Lymphoma
Weight loss, Panniculitis ORPHA:86884
Liposarcoma
Weight loss ORPHA:69078
Multiple Endocrine Neoplasia, Type I
Pituitary adenoma, Elevated circulating growth hormone concentration, Glucagonoma, Parathyroid ad... OMIM:131100
Leishmaniasis
Weight loss, Rhinitis ORPHA:507
Cystic Echinococcosis
Unusual infection, Asthma, Multiple pulmonary cysts, Abnormal subpleural morphology, Invasive par... ORPHA:400
Brucellosis
Myocarditis, Epididymitis, Pulmonary granulomatosis, Pneumonia, Knee osteoarthritis, Pericarditis... ORPHA:1304
Spinocerebellar Ataxia 48
Cachexia OMIM:618093
Nodular Non-Suppurative Panniculitis
Weight loss, Inflammatory abnormality of the eye, Panniculitis ORPHA:33577
Thymoma
Rheumatoid arthritis, Neoplasm of the lung, Myositis, Cough, Neoplasia of the pleura, Ulcerative ... ORPHA:99867
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3
Pneumonia OMIM:608033
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Keratitis, Failure to thrive, Aspiration pneumonia, Cough, Tracheobronchial leiomyomatosis, Dyspn... ORPHA:1018
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Hyperactive renin-angiotensin system, Failure to thrive, Decreased circulating cortisol level, In... ORPHA:90790
Alpha-Mannosidosis, Adult Form
Recurrent gastroenteritis, Recurrent infections, Pneumonia ORPHA:309288
Wild Type Attr Amyloidosis
Pleural effusion, Weight loss, Pulmonary edema, Abnormal pulmonary interstitial morphology ORPHA:330001
Laryngotracheoesophageal Cleft Type 4
Cachexia, Respiratory insufficiency ORPHA:93941
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency
Aspiration pneumonia, Failure to thrive, Pancreatitis, Central sleep apnea ORPHA:431361
Mucoepithelial Dysplasia, Hereditary
Fibrocystic lung disease, Keratoconjunctivitis, Chronic mucocutaneous candidiasis, Recurrent pneu... OMIM:158310
Granulomatosis With Polyangiitis
Sinusitis, Prostatitis, Pancreatitis, Chronic pulmonary obstruction, Skin rash, Otitis media, Rec... ORPHA:900
Medullary Thyroid Carcinoma
Weight loss, Neoplasm of the lung ORPHA:1332
Secondary Short Bowel Syndrome
Failure to thrive, Weight loss, Enterocolitis, Sepsis ORPHA:95427
Acute Promyelocytic Leukemia
Stomatitis, Productive cough, Chronic infection, Exertional dyspnea, Weight loss, Diffuse alveola... ORPHA:520
Osteosarcoma
Weight loss ORPHA:668
Graves Disease, Susceptibility To, 1
Weight loss OMIM:275000
Good Syndrome
Sinusitis, Recurrent skin infections, Recurrent urinary tract infections, Cough, Bronchiectasis, ... ORPHA:169105
Mcdonough Syndrome
Cachexia ORPHA:2471
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Chronic gastritis, Colitis, Skin rash, Inflammation of the large intestine, Arthritis, Perianal a... OMIM:301074
Orofaciodigital Syndrome Viii
Recurrent aspiration pneumonia OMIM:300484
Parkinson Disease 4, Autosomal Dominant
Weight loss OMIM:605543
Rett Syndrome
Failure to thrive, Increased serum leptin ORPHA:778
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Weight loss OMIM:613239
Loeffler Endocarditis
Dyspnea, Weight loss, Cough, Pericarditis ORPHA:75566
Whipple Disease
Cachexia, Respiratory insufficiency, Myositis, Myocarditis, Arthritis, Cough, Pleuritis, Uveitis,... ORPHA:3452
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Inflammatory abnormality of the skin, Episodic tachypnea, Small for gestati... ORPHA:26793
Listeriosis
Unusual skin infection, Respiratory distress, Unusual CNS infection, Osteomyelitis, Conjunctiviti... ORPHA:533
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Desquamative interstitial pneumonitis, Recurrent upper respiratory tract infections, Eczema, Inte... OMIM:615952
Sarcoidosis, Susceptibility To, 1
Iridocyclitis, Elevated bronchoalveolar lavage fluid lymphocyte proportion, Hypoxemia, Inflammati... OMIM:181000
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Weight loss OMIM:188580
Igg4-Related Aortitis
Asthma, Weight loss, Increased inflammatory response ORPHA:449400
Congenital Enterocyte Heparan Sulfate Deficiency
Weight loss ORPHA:103910
Huntington Disease
Weight loss, Decreased body mass index ORPHA:399
Congenital Multicore Myopathy With External Ophthalmoplegia
Abnormal respiratory system physiology, Respiratory failure, Recurrent respiratory infections, Pn... ORPHA:98905
Fatal Familial Insomnia
Apnea, Weight loss OMIM:600072
Rheumatoid Arthritis
Rheumatoid arthritis, Weight loss OMIM:180300
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Restrictive ventilatory defect, Pneumonia OMIM:253700
Oromandibular Dystonia
Respiratory distress, Weight loss ORPHA:93958
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Pulmonary embolism, Recurrent infections, Pneumonia OMIM:226300
Mitochondrial Neurogastrointestinal Encephalomyopathy
Cachexia, Weight loss ORPHA:298
Generalized Glucocorticoid Resistance Syndrome
Decreased circulating aldosterone level, Precocious puberty, Increased circulating cortisol level... ORPHA:786
Immunodeficiency 82 With Systemic Inflammation
Crohn's disease, Colitis, Gastritis, Osteomyelitis, Skin rash, Recurrent skin infections, Arthrit... OMIM:619381
Lipodystrophy Due To Peptidic Growth Factors Deficiency
Cachexia, Weight loss ORPHA:1979
Juvenile Neuronal Ceroid Lipofuscinosis
Aspiration pneumonia, Apnea, Episodic tachypnea ORPHA:79264
Acquired Hypertrichosis Lanuginosa
Weight loss ORPHA:2221
Gm1 Gangliosidosis
Failure to thrive, Aspiration pneumonia, Infectious encephalitis, Weight loss, Recurrent respirat... ORPHA:354
Huntington Disease-Like 1
Weight loss ORPHA:157941
Christianson Syndrome
Cachexia ORPHA:85278
Neuropathy, Congenital Hypomyelinating, 3
Cachexia, Respiratory insufficiency OMIM:618186
Shigellosis
Acute colitis, Sepsis, Peritonitis, Myocarditis, Arthritis, Uveitis, Pneumonia, Ulcerative coliti... ORPHA:810
Wiskott-Aldrich Syndrome, Autosomal Dominant
Sinusitis, Otitis media, Eczema, Recurrent upper respiratory tract infections, Inflammation of th... OMIM:600903
Cryptococcosis
Respiratory distress, Prostatitis, Osteomyelitis, Nodular pattern on pulmonary HRCT, Sepsis, Peri... ORPHA:1546
Atypical Werner Syndrome
Failure to thrive, Hyperinsulinemia, Type II diabetes mellitus, Decreased body weight, Glycosuria... ORPHA:79474
Giant Cell Arteritis
Abnormal pleura morphology, Pericarditis, Arthritis, Cough, Meningitis, Recurrent pharyngitis, We... ORPHA:397
Congenital Tufting Enteropathy
Failure to thrive, Weight loss, Punctate keratitis, Arthritis ORPHA:92050
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2
Cachexia, Failure to thrive in infancy OMIM:616801
Roifman-Chitayat Syndrome
Pneumonia, Arthritis OMIM:613328
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Respiratory distress, Apnea, Aspiration pneumonia, Recurrent pneumonia, Hypoventilation ORPHA:314655
19Q13.11 Microdeletion Syndrome
Failure to thrive, Recurrent respiratory infections, Cachexia ORPHA:217346
Stevens-Johnson Syndrome
Pancreatitis, Sepsis, Abnormal pleura morphology, Cough, Restrictive ventilatory defect, Dyspnea,... ORPHA:36426
Behçet Disease
Optic neuritis, Pancreatitis, Orchitis, Pulmonary embolism, Endocarditis, Myositis, Pericarditis,... ORPHA:117
Pyruvate Dehydrogenase E1-Alpha Deficiency
Neonatal respiratory distress, Recurrent aspiration pneumonia, Recurrent infections, Small for ge... ORPHA:79243
Aicardi-Goutieres Syndrome 9
Failure to thrive, Recurrent urinary tract infections, Chilblains, Pericarditis, Acute pancreatit... OMIM:619487
Budd-Chiari Syndrome
Weight loss, Peritonitis, Cholecystitis ORPHA:131
Igg4-Related Kidney Disease
Prostatitis, Pancreatitis, Inflammatory abnormality of the skin, Arteritis, Lymphadenitis, Inters... ORPHA:449395
Mirage Syndrome
Decreased body weight, Aspiration pneumonia, Recurrent bacterial infections, Sepsis, Recurrent ur... OMIM:617053
Coccidioidomycosis
Respiratory distress, Unusual CNS infection, Osteomyelitis, Pancreatitis, Folliculitis, Panniculi... ORPHA:228123
Thymic Neuroendocrine Tumor
Weight loss, Abnormal breath sound, Cough ORPHA:97289
Toxic Epidermal Necrolysis
Respiratory distress, Pancreatitis, Sepsis, Abnormal pleura morphology, Cough, Restrictive ventil... ORPHA:537
Renpenning Syndrome
Cachexia ORPHA:3242
Malt Lymphoma
Weight loss, Recurrent respiratory infections, Posterior uveitis ORPHA:52417
Zygomycosis
Pancreatitis, Gastritis, Acute infectious pneumonia, Myocarditis, Rhinorrhea, Pericarditis, Unusu... ORPHA:73263
Acute Monoblastic/Monocytic Leukemia
Exertional dyspnea, Weight loss ORPHA:514
Isolated Succinate-Coq Reductase Deficiency
Weight loss ORPHA:3208
Non-Functioning Paraganglioma
Weight loss ORPHA:94080
Hereditary Bullous Dystrophy, Macular Type
Pneumonia ORPHA:1867
Acrodermatitis Enteropathica
Failure to thrive, Blepharitis, Cheilitis, Pustule, Weight loss, Conjunctivitis ORPHA:37
Cystic Fibrosis
Reduced forced expiratory volume in one second, Failure to thrive, Asthma, Pancreatitis, Recurren... OMIM:219700
Primary Intestinal Lymphangiectasia
Weight loss, Cryptococcal meningitis, Pleural effusion, Opportunistic infection ORPHA:90362
Glucose-Galactose Malabsorption
Failure to thrive, Weight loss ORPHA:35710
Congenital Fiber-Type Disproportion Myopathy
Failure to thrive, Respiratory insufficiency due to muscle weakness, Weakness of muscles of respi... ORPHA:2020
Juvenile Dermatomyositis
Skin rash, Myositis, Arthritis, Pericarditis, Cough, Restrictive ventilatory defect, Dyspnea, Wei... ORPHA:93672
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Cachexia, Exertional dyspnea ORPHA:42
Solitary Fibrous Tumor/Hemangiopericytoma
Weight loss, Neoplasm of the lung, Neoplasia of the pleura ORPHA:2126
Spondyloenchondrodysplasia
Skin rash, Juvenile rheumatoid arthritis, Arthritis, Hepatitis, Recurrent infections, Pneumonia ORPHA:1855
Malignant Atrophic Papulosis
Peritonitis, Weight loss, Pleural effusion, Arteritis, Respiratory failure ORPHA:679
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Decreased thyroid-stimulating hormone level, Decreased circulating T4 concentration, Decreased re... ORPHA:226307
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Cachexia ORPHA:1933
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Oligoarthritis, Iridocyclitis, Arthritis, Hip osteoarthritis, Uveitis, Knee osteoarthritis, Weigh... ORPHA:85408
Familial Glucocorticoid Deficiency
Failure to thrive, Weight loss, Recurrent urinary tract infections, Recurrent infections ORPHA:361
Lipodystrophy, Congenital Generalized, Type 1
Insulin-resistant diabetes mellitus at puberty, Hyperinsulinemia, Decreased serum leptin, Diabete... OMIM:608594
Ring Chromosome 10 Syndrome
Cachexia ORPHA:1438
Flynn-Aird Syndrome
Cachexia ORPHA:2047
Spondyloenchondrodysplasia With Immune Dysregulation
Juvenile rheumatoid arthritis, Rheumatoid arthritis, Recurrent sinusitis, Pneumonia, Recurrent ot... OMIM:607944
Atrial Septal Defect, Coronary Sinus Type
Anomalous pulmonary venous return, Recurrent bacterial infections, Pneumonia, Dyspnea, Exertional... ORPHA:99104
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome
Cachexia, Severe failure to thrive, Obstructive sleep apnea ORPHA:371364
Infantile Krabbe Disease
Respiratory distress, Failure to thrive, Cachexia, Recurrent infections, Respiratory failure ORPHA:206436
Tetrasomy 12P
Cachexia ORPHA:884
Aggressive Systemic Mastocytosis
Maculopapular exanthema, Weight loss ORPHA:98850
Celiac Disease, Susceptibility To, 1
Failure to thrive, Eczema, Stomatitis, Recurrent aphthous stomatitis, Weight loss, Thyroiditis OMIM:212750
Simple Cryoglobulinemia
Viral hepatitis, Nephritis, Membranoproliferative glomerulonephritis, Arthritis, Pericarditis, Ab... ORPHA:91139
Infection-Related Hemolytic Uremic Syndrome
Acute colitis, Pancreatitis, Severe infection, Pleural empyema, Brain abscess, Myocarditis, Sever... ORPHA:544482
Rett Syndrome
Cachexia, Apnea, Intermittent hyperventilation OMIM:312750
Erdheim-Chester Disease
Osteomyelitis, Skin rash, Abnormal pulmonary interstitial morphology, Cough, Pleural effusion, Dy... ORPHA:35687
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Cachexia ORPHA:2774
Refractory Celiac Disease
Weight loss, Inflammatory abnormality of the skin ORPHA:398063
Proximal Spinal Muscular Atrophy
Recurrent infections due to aspiration, Recurrent aspiration pneumonia, Restrictive ventilatory d... ORPHA:70
Aicardi-Goutieres Syndrome 7
Skin rash, Atopic dermatitis, Chilblains, Arthritis, Recurrent lower respiratory tract infections... OMIM:615846
Hemorrhagic Fever-Renal Syndrome
Respiratory distress, Decreased body weight, Pulmonary edema, Severe infection, Epistaxis, Acute ... ORPHA:340
Imerslund-Gräsbeck Syndrome
Failure to thrive, Weight loss, Angular cheilitis ORPHA:35858
Tenorio Syndrome
Stomatitis, Apnea, Keratoconjunctivitis sicca, Pneumonia OMIM:616260
Al Amyloidosis
Nonproductive cough, Abnormal pulmonary interstitial morphology, Pulmonary interstitial high-reso... ORPHA:85443
Polycythemia Vera
Epistaxis, Respiratory insufficiency, Weight loss, Pulmonary embolism ORPHA:729
Late-Onset Isolated Acth Deficiency
Failure to thrive, Sepsis, Hepatitis, Hashimoto thyroiditis, Weight loss ORPHA:199299
Shwachman-Diamond Syndrome
Failure to thrive, Sinusitis, Osteomyelitis, Skin rash, Sepsis, Recurrent bacterial infections, E... ORPHA:811
Lipodystrophy, Congenital Generalized, Type 2
Insulin-resistant diabetes mellitus at puberty, Hyperinsulinemia, Decreased serum leptin, Type II... OMIM:269700
Neuroendocrine Tumor Of The Colon
Weight loss, Bronchospasm ORPHA:100080
Klatskin Tumor
Weight loss ORPHA:99978
Combined Immunodeficiency With Faciooculoskeletal Anomalies
Recurrent fungal infections, Chronic oral candidiasis, Recurrent bacterial infections, Recurrent ... ORPHA:221139
Primary Hepatic Neuroendocrine Carcinoma
Dyspnea, Weight loss, Neoplasm of the lung, Bronchospasm ORPHA:100085
Poems Syndrome
Pleural effusion, Restrictive ventilatory defect, Weight loss, Pulmonary arterial hypertension, R... ORPHA:2905
Geleophysic Dysplasia 3
Dyspnea, Respiratory failure, Sleep apnea, Pneumonia OMIM:617809
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Sepsis, Pneumonia, Skin rash ORPHA:247691
Hennekam-Beemer Syndrome
Failure to thrive, Respiratory insufficiency, Pneumonia ORPHA:2135
Osteootohepatoenteric Syndrome
Failure to thrive, Weight loss, Asthma OMIM:619377
Atrial Septal Defect, Ostium Secundum Type
Airway obstruction, Recurrent bacterial infections, Orthopnea, Breathing dysregulation, Pneumonia... ORPHA:99103
Bickerstaff Brainstem Encephalitis
Recurrent gastroenteritis, Severe infection, Hypercapnia, Respiratory failure requiring assisted ... ORPHA:79138
Cronkhite-Canada Syndrome
Cachexia ORPHA:2930
Wolman Disease
Cachexia ORPHA:75233
Non-Acquired Panhypopituitarism
Ectopic anterior pituitary gland, Abnormal prolactin level, Decreased response to growth hormone ... ORPHA:90695
8P23.1 Microdeletion Syndrome
Obesity, Weight loss, Pulmonary artery stenosis ORPHA:251071
Neuroblastoma, Susceptibility To, 1
Failure to thrive, Weight loss OMIM:256700
Chronic Graft Versus Host Disease
Airway obstruction, Bronchiolitis obliterans, Keratoconjunctivitis sicca, Wheezing, Arthritis, Co... ORPHA:99921
Symptomatic Form Of Hemochromatosis Type 1
Weight loss, Arthritis ORPHA:465508
Dermatomyositis