Gene Summary

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

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.

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
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
Dyspnea, Pleuropulmonary blastoma, Cough, Weight loss, Recurrent pneumonia, Hemoptysis, Pulmonary... ORPHA:64741
Immunodeficiency 51
Folliculitis, Recurrent bronchitis, Cutaneous abscess, Pustule, Chronic oral candidiasis, Recurre... OMIM:613953
Immunodeficiency 11
Recurrent respiratory infections, Pneumonia OMIM:615206
Hyperinsulinemic Hypoglycemia, Familial, 2
Large for gestational age, Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancreatic islet-cell hyp... OMIM:601820
Short Stature Due To Ghsr Deficiency
Decreased serum insulin-like growth factor 1, Abnormality of body weight, Decreased body weight, ... ORPHA:314811
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Hypoglycemic seizures, Neonatal hypoglycemia, Hypoketotic hypoglycemia, Abnormal circulating insu... ORPHA:293964
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Hypoglycemia, Pancreatic ... OMIM:610021
Immunodeficiency 48
Eczematoid dermatitis, Pneumonia, Failure to thrive, Recurrent candida infections OMIM:269840
Type 2 Diabetes Mellitus
Increased waist to hip ratio, Type II diabetes mellitus, Insulin resistance OMIM:125853
Short Stature Due To Partial Ghr Deficiency
Delayed puberty, Hypoglycemia, Decreased serum insulin-like growth factor 1 ORPHA:314802
Tuberculosis
Cough, Abnormal lung morphology, Weight loss ORPHA:3389
Idiopathic Achalasia
Wheezing, Cough, Weight loss, Bronchitis, Recurrent aspiration pneumonia ORPHA:930
Isolated Growth Hormone Deficiency, Type Ia
Impaired growth-hormone response to insulin stimulation test, Hypoglycemia, Decreased response to... OMIM:262400
Mounier-Kühn Syndrome
Pneumonia, Recurrent bronchopulmonary infections, Tracheal stenosis, Bronchitis, Tracheobronchmeg... ORPHA:3347
Immunodeficiency 32B
Bronchiectasis, Pneumonia, Recurrent infections, Sinusitis, Recurrent respiratory infections OMIM:226990
Hyperinsulinism Due To Insr Deficiency
Hyperinsulinemic hypoglycemia, Insulin resistance, Recurrent hypoglycemia, Hypoglycemia, Fasting ... ORPHA:263458
Idiopathic Bronchiectasis
Recurrent Haemophilus influenzae infections, Respiratory tract infection, Wheezing, Dyspnea, Bron... ORPHA:60033
Agammaglobulinemia 1, Autosomal Recessive
Bronchiectasis, Recurrent otitis media, Recurrent sinusitis, Pneumonia, Sinusitis, Conjunctivitis... OMIM:601495
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive
Recurrent opportunistic infections, Failure to thrive secondary to recurrent infections, Pneumoni... OMIM:608971
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Recurrent opportunistic infections, Failure to thrive secondary to recurrent infections, Purulent... OMIM:601457
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Truncal obesity, Large for gestational age, Neonatal hypoglycemia OMIM:240900
Ciliary Dyskinesia, Primary, 44
Bronchiectasis, Recurrent sinusitis, Neonatal respiratory distress, Reduced forced expiratory vol... OMIM:618781
Ciliary Dyskinesia, Primary, 42
Chronic pulmonary obstruction, Bronchiectasis, Nasal polyposis, Recurrent sinusitis, Pneumonia, R... OMIM:618695
Mucus Inspissation Of Respiratory Tract
Chronic pulmonary obstruction, Bronchiectasis, Atelectasis, Chronic sinusitis, Recurrent respirat... OMIM:253240
Ciliary Dyskinesia, Primary, 21
Chronic sinusitis, Bronchiectasis, Ciliary dyskinesia, Recurrent otitis media, Atelectasis, Neona... OMIM:615294
Agammaglobulinemia 2, Autosomal Recessive
Meningitis, Recurrent bacterial infections, Recurrent respiratory infections, Recurrent pneumonia OMIM:613500
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency
Tegumentary leishmaniasis susceptibility, BCGosis, Severe toxoplasmosis, Lymphadenitis, Histoplas... ORPHA:319552
Ciliary Dyskinesia, Primary, 9
Bronchiectasis, Ciliary dyskinesia, Recurrent otitis media, Recurrent sinusitis, Cough, Pneumonia... OMIM:612444
Young Syndrome
Recurrent bronchitis, Congenital cystic adenomatoid malformation of the lung, Bronchiectasis, Rec... OMIM:279000
Insulin Autoimmune Syndrome
Fasting hypoglycemia, Hyperinsulinemic hypoglycemia, Insulin resistance, Nonketotic hypoglycemia,... ORPHA:411593
Maturity-Onset Diabetes Of The Young, Type 3
Maturity-onset diabetes of the young, Hyperglycemia, Type II diabetes mellitus OMIM:600496
Complement Factor B Deficiency
Peritonitis, Pneumonia, Meningitis, Recurrent meningococcal disease, Recurrent bacterial infections OMIM:615561
Ciliary Dyskinesia, Primary, 27
Bronchiectasis, Ciliary dyskinesia, Recurrent otitis media, Recurrent sinusitis, Recurrent respir... OMIM:615504
Ciliary Dyskinesia, Primary, 33
Recurrent bronchitis, Bronchiectasis, Ciliary dyskinesia, Recurrent otitis media, Cough, Atelecta... OMIM:616726
Cd8 Deficiency, Familial
Recurrent viral infections, Recurrent respiratory infections, Bronchiectasis, Recurrent bacterial... OMIM:608957
Tracheobronchomegaly
Recurrent bronchopulmonary infections, Bronchiectasis, Diverticulosis of trachea OMIM:275300
Hyperinsulinism Due To Glucokinase Deficiency
Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Recurrent hypoglycemia, Type II diabetes... ORPHA:79299
Ciliary Dyskinesia, Primary, 23
Bronchiectasis, Ciliary dyskinesia, Recurrent otitis media, Recurrent sinusitis, Productive cough... OMIM:615451
Akt2-Related Familial Partial Lipodystrophy
Decreased serum leptin, Insulin resistance, Insulin-resistant diabetes mellitus, Decreased adipon... ORPHA:79085
Maturity-Onset Diabetes Of The Young, Type 10
Maturity-onset diabetes of the young, Diabetes mellitus, Hyperglycemia, Diabetic ketoacidosis OMIM:613370
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Short nose, Pneumonia, Recurrent infections, Anteverted nares, Chronic bronchitis, Depressed nasa... OMIM:614069
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency
Hypoglycemia ORPHA:35701
Immunodeficiency 56
Chronic hepatitis due to cryptosporidium infection, Bronchiectasis, Recurrent sinusitis, Pneumoni... OMIM:615207
Combined Immunodeficiency, X-Linked
Recurrent bronchitis, Pneumonia, Otitis media, Sinusitis OMIM:312863
Pituitary Hormone Deficiency, Combined, 4
Impaired growth-hormone response to insulin stimulation test, Hypothyroidism, Adrenal insufficien... OMIM:262700
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
Atopic dermatitis, Pneumonia, Recurrent upper respiratory tract infections OMIM:618806
Allergic Bronchopulmonary Aspergillosis
Bronchiectasis, Emphysema, Cough, Weight loss, Respiratory insufficiency, Asthma, Hemoptysis, Pul... ORPHA:1164
Chronic Beryllium Disease
Ground-glass opacification, Abnormality on pulmonary function testing, Dyspnea, Pulmonary fibrosi... ORPHA:133
Immunodeficiency 11B With Atopic Dermatitis
Atopic dermatitis, Pneumonia, Asthma OMIM:617638
Combined Oxidative Phosphorylation Deficiency 36
Failure to thrive, Hypoglycemia OMIM:617950
Ciliary Dyskinesia, Primary, 5
Recurrent bronchitis, Respiratory tract infection, Bronchiectasis, Ciliary dyskinesia, Recurrent ... OMIM:608647
Ciliary Dyskinesia, Primary, 39
Bronchiectasis, Recurrent otitis media, Cough, Rhinorrhea, Chronic lung disease, Recurrent lower ... OMIM:618254
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Ciliary Dyskinesia, Primary, 28
Bronchiectasis, Ciliary dyskinesia, Recurrent otitis media, Recurrent sinusitis, Recurrent respir... OMIM:615505
Scedosporiosis
Pleuritis, Pericarditis, Decreased pulmonary function, Cough, Pneumonia, Pulmonary tuberculosis, ... ORPHA:449280
Ciliary Dyskinesia, Primary, 3
Bronchiectasis, Ciliary dyskinesia, Recurrent otitis media, Recurrent sinusitis, Neonatal respira... OMIM:608644
Hypoglycemia, Leucine-Induced
Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:240800
Glucocorticoid Deficiency 2
Decreased circulating cortisol level, Recurrent hypoglycemia, Increased circulating ACTH level OMIM:607398
Tracheobronchopathia Osteochondroplastica
Abnormal sputum, Esophagitis, Wheezing, Tracheal calcification, Exertional dyspnea, Pneumonia, Re... ORPHA:3348
Pneumocystosis
Dyspnea, Chronic oral candidiasis, Interstitial pneumonitis, Exertional dyspnea, Parenchymal cons... ORPHA:723
Ciliary Dyskinesia, Primary, 29
Bronchiectasis, Ciliary dyskinesia, Atelectasis, Decreased nasal nitric oxide, Recurrent respirat... OMIM:615872
Homozygous 11P15-P14 Deletion Syndrome
Failure to thrive, Hyperinsulinemia, Hypoglycemia OMIM:606528
Glucocorticoid Deficiency 3
Recurrent hypoglycemia OMIM:609197
Pulmonary Non-Tuberculous Mycobacterial Infection
Pulmonary opacity, Abnormal sputum, Dyspnea, Respiratory distress, Bronchiectasis, Chronic pulmon... ORPHA:411703
Ciliary Dyskinesia, Primary, 41
Recurrent otitis media, Impaired nasal mucociliary clearance, Recurrent sinusitis, Bronchiectasis OMIM:618449
Bronchiectasis With Or Without Elevated Sweat Chloride 3
Chronic bronchitis, Bronchiectasis OMIM:613071
Bronchiectasis With Or Without Elevated Sweat Chloride 1
Chronic bronchitis, Bronchiectasis OMIM:211400
Bronchiectasis With Or Without Elevated Sweat Chloride 2
Chronic bronchitis, Bronchiectasis OMIM:613021
Combined Immunodeficiency Due To Dock8 Deficiency
Atopic dermatitis, Recurrent bacterial skin infections, Chronic otitis media, Recurrent sinusitis... ORPHA:217390
Ciliary Dyskinesia, Primary, 32
Bronchiectasis, Ciliary dyskinesia, Neonatal respiratory distress, Immotile cilia, Recurrent resp... OMIM:616481
Glycogen Storage Disease 0, Liver
Fasting hypoglycemia, Postprandial hyperglycemia, Neonatal hypoglycemia OMIM:240600
Ciliary Dyskinesia, Primary, 36, X-Linked
Bronchiectasis, Cough, Recurrent sinusitis, Neonatal respiratory distress, Recurrent respiratory ... OMIM:300991
Ciliary Dyskinesia, Primary, 20
Bronchiectasis, Ciliary dyskinesia, Recurrent otitis media, Recurrent sinusitis, Absent outer dyn... OMIM:615067
Ciliary Dyskinesia, Primary, 45
Bronchiectasis, Absent inner and outer dynein arms, Immotile cilia, Chronic rhinitis, Recurrent r... OMIM:618801
Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome
Wide nasal bridge, Aspiration pneumonia, Failure to thrive, Depressed nasal bridge OMIM:609528
Familial Nasal Acilia
Dyspnea, Respiratory distress, Bronchiectasis, Recurrent upper respiratory tract infections, Atel... ORPHA:922
Ciliary Dyskinesia, Primary, 11
Abnormal ciliary motility, Bronchiectasis, Ciliary dyskinesia, Recurrent sinusitis, Recurrent res... OMIM:612649
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone
Hypoglycemia OMIM:223500
Polyendocrine-Polyneuropathy Syndrome
Hypogonadism, Central hypothyroidism, Hypoglycemia OMIM:616113
Carcinoma Of Esophagus
Cough, Weight loss, Obesity ORPHA:70482
Hyperinsulinism Due To Hnf1A Deficiency
Hypoglycemic seizures, Fasting hypoglycemia, Maturity-onset diabetes of the young, Maternal diabe... ORPHA:324575
Surfactant Metabolism Dysfunction, Pulmonary, 2
Bronchiectasis, Interstitial pneumonitis, Cough, Respiratory insufficiency, Pulmonary arterial hy... OMIM:610913
Immunodeficiency 65, Susceptibility To Viral Infections
Recurrent viral infections, Recurrent gastroenteritis, Stomatitis, Bronchiectasis OMIM:618648
Ciliary Dyskinesia, Primary, 35
Bronchiectasis, Cough, Nasal polyposis, Chronic rhinitis, Chronic sinusitis, Recurrent respirator... OMIM:617092
Cidec-Related Familial Partial Lipodystrophy
Decreased serum leptin, Insulin-resistant diabetes mellitus, Decreased adiponectin level ORPHA:435651
Ciliary Dyskinesia, Primary, 26
Bronchiectasis, Ciliary dyskinesia, Recurrent otitis media, Recurrent sinusitis, Absent outer dyn... OMIM:615500
Pulmonary Alveolar Proteinosis, Acquired
Lung abscess, Restrictive ventilatory defect, Intraalveolar phospholipid accumulation, Dyspnea, C... OMIM:610910
Cholesterol Pneumonia
Tachypnea, Cough, Pneumonia OMIM:215030
Lipe-Related Familial Partial Lipodystrophy
Decreased serum leptin, Insulin resistance, Insulin-resistant diabetes mellitus, Decreased adipon... ORPHA:435660
Fructose And Galactose Intolerance
Hypoglycemia OMIM:229500
Ciliary Dyskinesia, Primary, 15
Chronic sinusitis, Wheezing, Bronchiectasis, Ciliary dyskinesia, Recurrent otitis media, Abnormal... OMIM:613808
Growth Hormone Insensitivity Syndrome
Insulin resistance, Hypoglycemia, Truncal obesity, Type II diabetes mellitus, Failure to thrive, ... ORPHA:181393
Muscular Hypertonia, Lethal
Pneumonia OMIM:254120
Ciliary Dyskinesia, Primary, 24
Bronchiectasis, Ciliary dyskinesia, Recurrent sinusitis, Rhinitis, Sinusitis OMIM:615481
Obesity Due To Congenital Leptin Deficiency
Decreased serum leptin, Hyperinsulinemia, Hypergonadotropic hypogonadism, Absence of secondary se... ORPHA:66628
Ciliary Dyskinesia, Primary, 12
Bronchiectasis, Ciliary dyskinesia, Chronic rhinitis, Chronic sinusitis, Recurrent respiratory in... OMIM:612650
Immunodeficiency, Common Variable, 12, With Autoimmunity
Chronic pulmonary obstruction, Bronchiectasis, Recurrent sinusitis, Chronic atrophic gastritis, R... OMIM:616576
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Recurrent herpes, Failure to thrive secondary to recurrent infections, Chronic oral candidiasis, ... ORPHA:169160
Isolated Agammaglobulinemia
Skin rash, Pneumonia, Recurrent respiratory infections, Meningitis, Inflammatory abnormality of t... ORPHA:229717
Pleural Mesothelioma
Abnormal lung morphology, Dyspnea, Respiratory distress, Abnormal respiratory system physiology, ... ORPHA:50251
Ciliary Dyskinesia, Primary, 34
Reduced respiratory ciliary beating frequency, Recurrent bronchitis, Bronchiectasis, Recurrent si... OMIM:617091
Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive
Atopic dermatitis, Bronchiectasis, Recurrent otitis media, Recurrent infections, Chronic mucocuta... OMIM:618282
Immunodeficiency 52
Bronchiectasis, Persistent EBV viremia, Persistent CMV viremia, Chronic lung disease, Recurrent i... OMIM:617514
Immunodeficiency, Common Variable, 1
Recurrent bronchitis, Bronchiectasis, Recurrent otitis media, Recurrent sinusitis, Pneumonia, Con... OMIM:607594
Ciliary Dyskinesia, Primary, 13
Recurrent bronchitis, Bronchiectasis, Ciliary dyskinesia, Absent inner dynein arms, Absent outer ... OMIM:613193
Leptin Deficiency Or Dysfunction
Hypogonadism, Decreased serum leptin, Obesity OMIM:614962
Severe Combined Immunodeficiency, X-Linked
Skin rash, Recurrent fungal infections, Chronic oral candidiasis, Pneumonia, Failure to thrive, R... OMIM:300400
Obesity Due To Leptin Receptor Gene Deficiency
Decreased serum leptin, Hyperinsulinemia, Hypergonadotropic hypogonadism, Absence of secondary se... ORPHA:179494
Ciliary Dyskinesia, Primary, 7
Restrictive ventilatory defect, Abnormal ciliary motility, Bronchiectasis, Ciliary dyskinesia, Re... OMIM:611884
Ciliary Dyskinesia, Primary, 25
Chronic pulmonary obstruction, Bronchiectasis, Ciliary dyskinesia, Recurrent sinusitis, Immotile ... OMIM:615482
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Impaired gluconeogenesis, Hypoglycemia OMIM:261650
Ciliary Dyskinesia, Primary, 30
Bronchiectasis, Ciliary dyskinesia, Recurrent otitis media, Cough, Absent outer dynein arms, Nasa... OMIM:616037
Mantle Cell Lymphoma
Weight loss ORPHA:52416
Bare Lymphocyte Syndrome, Type I
Recurrent bronchitis, Bronchiectasis, Bronchiolitis, Emphysema, Chronic otitis media, Nasal polyp... OMIM:604571
Ciliary Dyskinesia, Primary, 43
Bronchiectasis, Recurrent upper respiratory tract infections, Productive cough, Neonatal respirat... OMIM:618699
Aspergillosis
Pleuritis, Bronchiectasis, Cough, Pneumonia, Abnormal tracheobronchial morphology, Sinusitis, Ost... ORPHA:1163
Idiopathic Pulmonary Fibrosis
Ground-glass opacification, Reticular pattern on pulmonary HRCT, Bronchiectasis, Pulmonary fibros... ORPHA:2032
Ciliary Dyskinesia, Primary, 22
Bronchiectasis, Ciliary dyskinesia, Recurrent otitis media, Recurrent sinusitis, Absent inner and... OMIM:615444
Caspase 8 Deficiency
Recurrent herpes, Pneumonia, Recurrent sinopulmonary infections, Asthma, Failure to thrive, Eczema OMIM:607271
Bullous Pemphigoid
Eczema, Psoriasiform dermatitis, Recurrent infections, Weight loss ORPHA:703
Mitochondrial Complex Iii Deficiency, Nuclear Type 3
Hypoglycemia OMIM:615158
Multicentric Reticulohistiocytosis
Cachexia, Arthritis ORPHA:139436
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Fasting hypoglycemia, Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Hypoketotic hypoglycemia, ... ORPHA:276608
Glucocorticoid Deficiency 1
Decreased circulating cortisol level, Recurrent hypoglycemia, Failure to thrive, Increased circul... OMIM:202200
Immunodeficiency 13
Bronchiectasis, Recurrent upper respiratory tract infections, Recurrent otitis media, Recurrent s... OMIM:615518
Immunodeficiency 75
Persistent EBV viremia, Recurrent respiratory infections, Bronchiectasis OMIM:619126
Reticular Dysgenesis
Skin rash, Chronic otitis media, Weight loss, Failure to thrive, Sepsis, Recurrent respiratory in... ORPHA:33355
Hyperinsulinism-Hyperammonemia Syndrome
Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Reactive hypoglycemia ORPHA:35878
Immunodeficiency 77
Recurrent tonsillitis, Cutaneous abscess, Chronic pulmonary obstruction, Bronchiectasis, Nontuber... OMIM:619223
Immunodeficiency With Hyper-Igm, Type 4
Bronchiectasis, Recurrent upper respiratory tract infections, Recurrent bacterial infections, Ost... OMIM:608184
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Fasting hypoglycemia, Hyperinsulinemia, Postprandial hyperglycemia, Hypoglycemia, Insulin-resista... OMIM:262190
Ciliary Dyskinesia, Primary, 19
Bronchiectasis, Ciliary dyskinesia, Recurrent otitis media, Recurrent sinusitis, Absent inner and... OMIM:614935
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Prostatitis, Epididymitis, Recurrent otitis media, Pyoderma, Pneumonia, Septic arthritis, Recurre... OMIM:307200
Ciliary Dyskinesia, Primary, 17
Bronchiectasis, Ciliary dyskinesia, Cough, Chronic rhinitis, Chronic sinusitis, Abnormal respirat... OMIM:614679
Mulibrey Nanism
Cachexia, Wide nasal bridge ORPHA:2576
Pituitary Hormone Deficiency, Combined, 2
Hypoglycemic seizures, Panhypopituitarism, Neonatal hypoglycemia, Hypothyroidism, Adrenal insuffi... OMIM:262600
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive
Lymphocytic interstitial pneumonia, Respiratory distress, Failure to thrive OMIM:245590
Felty Syndrome
Recurrent pneumonia, Pleuritis, Pericarditis, Pulmonary fibrosis, Chronic otitis media, Recurrent... ORPHA:47612
Staphylococcal Necrotizing Pneumonia
Abnormal sputum, Sepsis, Tachypnea, Respiratory distress, Dyspnea, Parenchymal consolidation, Ple... ORPHA:36238
Hereditary Pulmonary Alveolar Proteinosis
Restrictive ventilatory defect, Respiratory distress, Cough, Respiratory failure requiring assist... ORPHA:264675
Ciliary Dyskinesia, Primary, 14
Recurrent pneumonia, Wheezing, Abnormal ciliary motility, Bronchiectasis, Ciliary dyskinesia, Abs... OMIM:613807
Combined Immunodeficiency Due To Zap70 Deficiency
Recurrent opportunistic infections, Skin rash, Recurrent bacterial infections, Chronic oral candi... ORPHA:911
Agammaglobulinemia, X-Linked
Prostatitis, Epididymitis, Pyoderma, Pneumonia, Septic arthritis, Recurrent urinary tract infecti... OMIM:300755
Insulin-Resistance Syndrome Type B
Abnormal oral glucose tolerance, Fasting hypoglycemia, Hyperinsulinemic hypoglycemia, Hyperinsuli... ORPHA:2298
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Failure to thrive, Cachexia, Weight loss OMIM:612075
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Recurrent bronchitis, Bronchiectasis, Chronic active Epstein-Barr virus infection, Persistent EBV... OMIM:300853
Progressive Nodular Histiocytosis
Cachexia ORPHA:158022
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypoglycemia ORPHA:366
Ciliary Dyskinesia, Primary, 16
Abnormal ciliary motility, Bronchiectasis, Ciliary dyskinesia, Absent outer dynein arms, Chronic ... OMIM:614017
Immunodeficiency 72 With Autoinflammation
Bronchiectasis, Recurrent otitis media, Molluscum contagiosum, Recurrent infections, Herpes simpl... OMIM:618982
Acute Lung Injury
Sepsis, Dyspnea, Respiratory distress, Pneumonia, Acute pancreatitis, Abnormal pulmonary intersti... ORPHA:178320
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Glomerulonephritis, Pneumonia OMIM:247800
Laryngeal Neuroendocrine Tumor
Neoplasm of the larynx, Weight loss, Exertional dyspnea ORPHA:100083
Combined Oxidative Phosphorylation Deficiency 34
Primary adrenal insufficiency, Hypogonadism, Failure to thrive, Hypoglycemia OMIM:617872
Autosomal Agammaglobulinemia
Skin rash, Bronchiectasis, Cough, Chronic otitis media, Recurrent respiratory infections, Conjunc... ORPHA:33110
Combined Oxidative Phosphorylation Deficiency 51
Neonatal respiratory distress, Aspiration pneumonia, Respiratory failure, Small for gestational age OMIM:619057
Tularemia
Abnormal nasopharyngeal adenoid morphology, Skin rash, Cutaneous abscess, Respiratory distress, P... ORPHA:3392
Immunodeficiency 57 With Autoinflammation
Inflammation of the large intestine, Skin rash, Bronchiectasis, Chronic lung disease, Perianal ab... OMIM:618108
Glycogen Storage Disease Vi
Hypoglycemia, Failure to thrive in infancy OMIM:232700
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Recurrent herpes, Skin rash, Recurrent Haemophilus influenzae infections, Recurrent opportunistic... ORPHA:276
Pemphigus Vulgaris
Recurrent infections, Recurrent cutaneous abscess formation, Weight loss ORPHA:704
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Otitis media, Pneumonia, Failure to thrive, Recurrent upper respiratory tract infections OMIM:602450
Cryptogenic Organizing Pneumonia
Ground-glass opacification, Abnormal sputum, Wheezing, Restrictive ventilatory defect, Respirator... ORPHA:1302
Cleft Velum
Recurrent otitis media, Aspiration pneumonia ORPHA:99772
Infant Acute Respiratory Distress Syndrome
Respiratory tract infection, Sepsis, Pneumonia, Atelectasis, Respiratory failure, Nasal flaring, ... ORPHA:70587
Rigid Spine Syndrome
Abnormality on pulmonary function testing, Pneumonia, Respiratory insufficiency ORPHA:97244
Pfapa Syndrome
Recurrent pharyngitis, Encephalitis, Weight loss, Arthritis ORPHA:42642
Inflammatory Bowel Disease (Crohn Disease) 1
Inflammation of the large intestine, Ulcerative colitis, Weight loss, Recurrent aphthous stomatit... OMIM:266600
Riboflavin Deficiency
Hypoglycemia OMIM:615026
Undifferentiated Pleomorphic Sarcoma
Weight loss ORPHA:2023
X-Linked Agammaglobulinemia
Skin rash, Recurrent pneumonia, Abnormal lung morphology, Chronic otitis media, Weight loss, Conj... ORPHA:47
Selective Igm Deficiency
Cutaneous abscess, Bronchiectasis, Recurrent urinary tract infections, Onychomycosis, Pulmonary t... ORPHA:331235
Surfactant Metabolism Dysfunction, Pulmonary, 3
Reticular pattern on pulmonary HRCT, Exertional dyspnea, Cough, Bronchial wall thickening, Parase... OMIM:610921
Melioidosis
Lung abscess, Prostatitis, Respiratory tract infection, Cutaneous abscess, Unusual skin infection... ORPHA:31202
Fusariosis
Peritonitis, Pulmonary opacity, Bronchiectasis, Pneumonia, Maculopapular exanthema, Onychomycosis... ORPHA:228119
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Short nose, Recurrent respiratory infections, Cachexia ORPHA:1389
Immunodeficiency 62
Bronchiectasis OMIM:618459
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy
Cachexia ORPHA:1216
Severe Acute Respiratory Syndrome
Dyspnea, Respiratory distress, Cough, Respiratory failure requiring assisted ventilation, Acute i... ORPHA:140896
Focal Myositis
Myositis, Weight loss ORPHA:48918
Glycogen Storage Disease Ixa1
Hypoglycemia OMIM:306000
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Bronchiectasis, Recurrent otitis media, Recurrent oral herpes, Persistent CMV viremia, Recurrent ... OMIM:619220
Ciliary Dyskinesia, Primary, 2
Respiratory distress, Bronchiectasis, Ciliary dyskinesia, Nasal polyposis, Absent inner and outer... OMIM:606763
Acute Myelomonocytic Leukemia
Dyspnea, Weight loss ORPHA:517
Laryngeal Abductor Paralysis-Intellectual Disability Syndrome
Neonatal asphyxia, Congenital laryngeal stridor, Bronchiectasis ORPHA:2375
Inflammatory Bowel Disease 11
Inflammation of the large intestine, Weight loss OMIM:191390
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Dyspnea, Cough, Respiratory failure requiring assisted ventilation, Respiratory failure, Aspirati... ORPHA:90117
Congenital Disorder Of Glycosylation, Type Iic
Bulbous nose, Bronchiolitis, Periodontitis, Recurrent otitis media, Pneumonia OMIM:266265
Hodgkin Lymphoma
Cough, Dyspnea, Weight loss, Hemoptysis ORPHA:98293
Follicular Lymphoma
Meningitis, Pleural effusion, Weight loss ORPHA:545
Infantile Osteopetrosis With Neuroaxonal Dysplasia
Pneumonia ORPHA:85179
T-Cell Immunodeficiency With Thymic Aplasia
Bronchiectasis, Eczematoid dermatitis, Emphysema, Pyoderma, Recurrent bronchopulmonary infections... OMIM:242700
Ciliary Dyskinesia, Primary, 38
Bronchiectasis, Cough, Chronic otitis media, Absent inner and outer dynein arms, Neonatal respira... OMIM:618063
Immunodeficiency 14A, Autosomal Dominant
Recurrent ear infections, Recurrent respiratory infections, Bronchiectasis, Recurrent sinopulmona... OMIM:615513
Immunodeficiency, Common Variable, 8, With Autoimmunity
Inflammation of the large intestine, Bronchiectasis, Thyroiditis, Recurrent otitis media, Recurre... OMIM:614700
Omenn Syndrome
Recurrent fungal infections, Erythroderma, Recurrent viral infections, Pneumonia, Failure to thri... OMIM:603554
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Slender build, Cachexia, Weight loss OMIM:613662
Immunodeficiency 27A
Increased inflammatory response, Salmonella osteomyelitis, Pneumonia, Weight loss, Abnormal bronc... OMIM:209950
Sarcoidosis, Susceptibility To, 2
Restrictive ventilatory defect, Dyspnea, Bronchiectasis, Pulmonary fibrosis, Pleural effusion, Em... OMIM:612387
Adult Acute Respiratory Distress Syndrome
Sepsis, Dyspnea, Pneumonia, Respiratory failure, Abnormal blood gas level, Pancreatitis, Pulmonar... ORPHA:70578
Immunodeficiency, Common Variable, 2
Recurrent bronchitis, Bronchiectasis, Recurrent otitis media, Recurrent sinusitis, Conjunctivitis... OMIM:240500
Chronic Hiccup
Weight loss ORPHA:396
Isaac Syndrome
Weight loss ORPHA:84142
Immunodeficiency 58
Seborrheic dermatitis, Cutaneous abscess, Bronchiectasis, Helicobacter pylori infection, Onychomy... OMIM:618131
Proprotein Convertase 1/3 Deficiency
Hypogonadotropic hypogonadism, Decreased circulating cortisol level, Reactive hypoglycemia, Obesity OMIM:600955
Mody
Abnormal oral glucose tolerance, Hyperinsulinemic hypoglycemia, Glucose intolerance, Neonatal hyp... ORPHA:552
Huntington Disease-Like 2
Weight loss ORPHA:98934
Oculopharyngodistal Myopathy
Restrictive ventilatory defect, Weight loss, Bowing of the vocal cords, Respiratory insufficiency... ORPHA:98897
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome
Cachexia ORPHA:1144
Panbronchiolitis, Diffuse
Wheezing, Bronchiectasis, Cough, Crackles, Hypoxemia, Rhonchi OMIM:604809
Neonatal Alloimmune Neutropenia
Severe infection, Meningitis, Sepsis, Pneumonia ORPHA:464370
Simpson-Golabi-Behmel Syndrome, Type 2
Short nose, Recurrent upper respiratory tract infections, Pneumonia, Anteverted nares, Wide nose,... OMIM:300209
Yao Syndrome
Skin rash, Pleuritis, Pericarditis, Weight loss, Arthritis, Keratoconjunctivitis sicca, Asthma, I... OMIM:617321
Autosomal Dominant Severe Congenital Neutropenia
Recurrent ear infections, Periodontitis, Pneumonia, Recurrent viral infections, Recurrent sinopul... ORPHA:486
Nocardiosis
Peritonitis, Cutaneous abscess, Pleuritis, Pericarditis, Thyroiditis, Pneumonia, Weight loss, Ost... ORPHA:31204
Generalized Pseudohypoaldosteronism Type 1
Pustule, Recurrent tonsillitis, Wheezing, Atopic dermatitis, Recurrent upper and lower respirator... ORPHA:171876
Acth Deficiency, Isolated
Fasting hypoglycemia, Decreased circulating cortisol level, Adrenal hypoplasia, Adrenocorticotrop... OMIM:201400
Anaplastic Thyroid Carcinoma
Dyspnea, Respiratory distress, Cough, Laryngotracheal stenosis, Weight loss, Upper airway obstruc... ORPHA:142
Ciliary Dyskinesia, Primary, 1
Chronic sinusitis, Bronchiectasis, Ciliary dyskinesia, Nasal polyposis, Chronic otitis media, Pne... OMIM:244400
Drug Rash With Eosinophilia And Systemic Symptoms
Skin rash, Pustule, Dyspnea, Interstitial pneumonitis, Thyroiditis, Cough, Erythroderma, Weight l... ORPHA:139402
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Congenital hypothyroidism, Failure to thrive, Precocious puberty, Hypoglycemia OMIM:614736
Purine Nucleoside Phosphorylase Deficiency
Recurrent opportunistic infections, Recurrent upper respiratory tract infections, Recurrent urina... OMIM:613179
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Short nose, Bronchiectasis, Pneumonia, Failure to thrive, Sinusitis, Anteverted nares, Chronic br... OMIM:242860
Avian Influenza
Ground-glass opacification, Sepsis, Myelitis, Respiratory distress, Dyspnea, Pleural effusion, Co... ORPHA:454836
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency
Pulmonary opacity, Intraalveolar phospholipid accumulation, Interstitial pneumonitis, Abnormal pu... ORPHA:217563
Bronchogenic Cyst
Abnormal sputum, Dyspnea, Abnormal pleura morphology, Cough, Pneumonia, Pulmonary cyst, Bronchoge... ORPHA:2357
Diffuse Alveolar Hemorrhage
Ground-glass opacification, Restrictive ventilatory defect, Dyspnea, Pulmonary fibrosis, Cough, R... ORPHA:90060
Whim Syndrome 1
Recurrent bacterial infections, Bronchiectasis, Recurrent upper respiratory tract infections OMIM:193670
Combined Immunodeficiency Due To Crac Channel Dysfunction
Recurrent fungal infections, Chronic otitis media, Recurrent viral infections, Pneumonia, Meningi... ORPHA:169090
Granulomatosis With Polyangiitis
Pleuritis, Subglottic stenosis, Cough, Chronic otitis media, Uveitis, Elevated bronchoalveolar la... OMIM:608710
Post-Traumatic Pituitary Deficiency
Panhypopituitarism, Decreased circulating ACTH level, Pituitary hypothyroidism, Hypoglycemia, Del... ORPHA:95619
3-Methylcrotonyl-Coa Carboxylase Deficiency
Hypoglycemia, Failure to thrive in infancy ORPHA:6
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Decreased serum leptin, Diabetes mellitus, Insulin resistance, Decreased adiponectin level ORPHA:280365
Microsporidiosis
Peritonitis, Bronchiolitis, Thyroiditis, Pneumonia, Weight loss, Sinusitis, Myocarditis, Myositis... ORPHA:2552
Pseudomyxoma Peritonei
Inflammation of the large intestine, Weight loss, Respiratory insufficiency ORPHA:26790
Galactose Epimerase Deficiency
Weight loss ORPHA:79238
Polyendocrine-Polyneuropathy Syndrome
Decreased circulating follicle stimulating hormone concentration, Central hypothyroidism, Decreas... ORPHA:453533
Bacterial Toxic-Shock Syndrome
Peritonitis, Skin rash, Recurrent urinary tract infections, Pneumonia, Sinusitis, Myocarditis, My... ORPHA:36234
Whim Syndrome
Severe periodontitis, Recurrent pneumonia, Respiratory tract infection, Recurrent bacterial infec... ORPHA:51636
Autoimmune Pulmonary Alveolar Proteinosis
Restrictive ventilatory defect, Intraalveolar phospholipid accumulation, Dyspnea, Cough, Crackles... ORPHA:747
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Recurrent infections, Ulcerative colitis, Bronchiolitis, Interstitial pneumonitis OMIM:614878
Rat-Bite Fever
Skin rash, Parotitis, Pustule, Endocarditis, Pericarditis, Lymphadenitis, Maculopapular exanthema... ORPHA:31205
Common Variable Immunodeficiency
Recurrent bronchitis, Restrictive ventilatory defect, Bronchiectasis, Emphysema, Chronic otitis m... ORPHA:1572
Pituitary Stalk Interruption Syndrome
Adrenal hypoplasia, Hypothyroidism, Ectopic posterior pituitary, Hypoglycemia, Delayed puberty, F... ORPHA:95496
Diencephalic Syndrome
Cachexia, Decreased body weight ORPHA:1672
Hirschsprung Disease
Sepsis, Weight loss, Failure to thrive in infancy ORPHA:388
Pyomyositis
Weight loss, Recurrent infections, Recurrent cutaneous abscess formation, Myositis, Sepsis ORPHA:764
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Interstitial pneumonitis, Eczematoid dermatitis, Thyroiditis, Pneumonia, Failure to thrive in inf... ORPHA:37042
Graft Versus Host Disease
Acute hepatitis, Gastrointestinal inflammation, Inflammatory abnormality of the skin, Recurrent g... ORPHA:39812
Meconium Aspiration Syndrome
Wheezing, Respiratory distress, Atelectasis, Pneumothorax, Neonatal asphyxia, Aspiration pneumoni... ORPHA:70588
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Recurrent upper respiratory tract infections, Recurrent otitis media, Pneumonia, Meningitis, Fail... OMIM:600802
Timothy Syndrome
Bronchitis, Recurrent infections, Pneumonia, Depressed nasal bridge OMIM:601005
Malignant Peritoneal Mesothelioma
Peritonitis, Dyspnea, Weight loss ORPHA:168811
Congenital Isolated Acth Deficiency
Hypoglycemic seizures, Adrenal hypoplasia, Neonatal hypoglycemia, Adrenocorticotropin deficient a... ORPHA:199296
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Adrenal hyperplasia, Adrenogenital syndrome, Hypoglycemia OMIM:201910
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Chronic oral candidiasis, Bronchiectasis, Recurrent infections, Recurrent pneumonia, Recurrent ap... OMIM:150550
Perry Syndrome
Central hypoventilation, Weight loss ORPHA:178509
Majeed Syndrome
Pustule, Cough, Synovitis, Weight loss, Abnormal inflammatory response, Cachexia, Failure to thri... ORPHA:77297
Riddle Syndrome
Recurrent pneumonia, Restrictive ventilatory defect, Pulmonary fibrosis, Recurrent sinusitis, Pne... ORPHA:420741
Marburg Hemorrhagic Fever
Skin rash, Cough, Weight loss, Pancreatitis, Recurrent pharyngitis ORPHA:99826
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Chronic pulmonary obstruction, Bronchiectasis, Pulmonary fibrosis, Lymphadenitis, Recurrent otiti... OMIM:618986
Moynahan Syndrome
Cachexia ORPHA:2574
Mpi-Cdg
Hypoglycemia ORPHA:79319
Kaposi Sarcoma
Recurrent herpes, Skin rash, Abnormal lung morphology, Weight loss ORPHA:33276
Eosinophilic Fasciitis
Myositis, Arthritis, Weight loss, Fasciitis ORPHA:3165
Acute Interstitial Pneumonia
Subpleural honeycombing, Ground-glass opacification, Dyspnea, Interlobular septal thickening, Bro... ORPHA:79126
Huntington Disease-Like 2
Weight loss OMIM:606438
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Weight loss ORPHA:86893
Systemic Capillary Leak Syndrome
Pericarditis, Cardiorespiratory arrest, Pleural effusion, Cough, Weight loss, Rhinorrhea, Pulmona... ORPHA:188
Bone Dysplasia, Lethal Holmgren Type
Weight loss, Respiratory insufficiency, Failure to thrive, Anteverted nares, Recurrent respirator... ORPHA:1842
Laryngotracheoesophageal Cleft Type 4
Respiratory insufficiency, Laryngomalacia, Cachexia, Tracheal stenosis, Tracheoesophageal fistula ORPHA:93941
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Large for gestational age, Diabetes mellitus, Hypoglycemia, Glycosuria OMIM:616026
Hyper-Ige Recurrent Infection Syndrome 4, Autosomal Recessive
Bronchiectasis, Recurrent otitis media, Keratitis, Eczema, Recurrent respiratory infections OMIM:618523
Autosomal Dominant Epidermolytic Ichthyosis
Erythroderma, Weight loss ORPHA:312
Classic Hodgkin Lymphoma
Skin rash, Cough, Weight loss, Respiratory insufficiency, Hemoptysis ORPHA:391
Yellow Nail Syndrome
Pleuritis, Dyspnea, Bronchiectasis, Cough, Rhinitis, Neoplasm of the lung, Sinusitis, Pulmonary a... ORPHA:662
Thymic Carcinoma
Cough, Dyspnea, Weight loss ORPHA:99868
Primary Ciliary Dyskinesia
Abnormal sputum, Anomalous pulmonary venous return, Wheezing, Respiratory tract infection, Bronch... ORPHA:244
Bronchial Neuroendocrine Tumor
Wheezing, Dyspnea, Bronchospasm, Nonproductive cough, Pneumonia, Weight loss, Abnormal pulmonary ... ORPHA:97287
Peritoneal Cystic Mesothelioma
Peritonitis, Weight loss ORPHA:168816
Immunodeficiency 43
Recurrent respiratory infections, Bronchiectasis OMIM:241600
Congenital Muscular Dystrophy Due To Lmna Mutation
Cachexia, Respiratory insufficiency ORPHA:157973
Hereditary Central Diabetes Insipidus
Weight loss ORPHA:30925
Holocarboxylase Synthetase Deficiency
Respiratory distress, Perioral eczema, Weight loss, Tachypnea, Keratoconjunctivitis, Eczema ORPHA:79242
Erythrokeratodermia Variabilis
Skin rash, Weight loss ORPHA:317
Orthostatic Hypotension 2
Hypoglycemia OMIM:618182
Cryptosporidiosis
Respiratory tract infection, Wheezing, Respiratory distress, Cough, Weight loss, Cholangitis, Res... ORPHA:1549
Cap Polyposis
Chronic atrophic gastritis, Weight loss ORPHA:160148
Takayasu Arteritis
Increased inflammatory response, Abnormal pattern of respiration, Weight loss, Hemoptysis, Pulmon... ORPHA:3287
Immunodeficiency 60
Bronchiectasis, Pulmonary fibrosis, Ulcerative colitis, Colitis, Recurrent sinopulmonary infectio... OMIM:618394
Slc35A1-Cdg
Pulmonary hemorrhage, Hypoxemia, Respiratory distress, Pneumonia ORPHA:238459
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Weight loss ORPHA:2198
Polyarteritis Nodosa
Abnormal lung morphology, Pleuritis, Pericarditis, Weight loss ORPHA:767
Eosinophilic Granulomatosis With Polyangiitis
Skin rash, Endocarditis, Increased inflammatory response, Abnormal pleura morphology, Cough, Nasa... ORPHA:183
Sporadic Creutzfeldt-Jakob Disease
Sepsis, Recurrent aspiration pneumonia, Respiratory failure requiring assisted ventilation, Recur... ORPHA:204
Galactokinase Deficiency
Hyperinsulinemia, Hypergonadotropic hypogonadism, Hypoglycemia, Small for gestational age, Failur... ORPHA:79237
Combined Oxidative Phosphorylation Deficiency 41
Decreased circulating cortisol level, Hypoglycemia OMIM:618838
Autoimmune Lymphoproliferative Syndrome, Type V
Bronchiectasis, Recurrent upper respiratory tract infections, Chronic atrophic gastritis, Eczema,... OMIM:616100
Omenn Syndrome
Thyroiditis, Erythroderma, Pneumonia, Failure to thrive, Sepsis ORPHA:39041
Amoebiasis Due To Entamoeba Histolytica
Lung abscess, Abnormal sputum, Acute colitis, Dyspnea, Constrictive pericarditis, Pleural effusio... ORPHA:67
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Inflammation of the large intestine, Skin rash, Palmoplantar pustulosis, Weight loss, Psoriasifor... ORPHA:324964
Mast Cell Sarcoma
Weight loss ORPHA:66661
Mu-Heavy Chain Disease
Weight loss ORPHA:100024
Q Fever
Endocarditis, Pericarditis, Respiratory distress, Cholecystitis, Cough, Pleural effusion, Maculop... ORPHA:781
Deafness-Lymphedema-Leukemia Syndrome
Chronic otitis media, Respiratory failure, Recurrent respiratory infections, Weight loss ORPHA:3226
Ciliary Dyskinesia, Primary, 37
Wheezing, Chronic rhinitis, Bronchiectasis, Rhinorrhea OMIM:617577
Reactive Arthritis
Inflammation of the large intestine, Pustule, Pericarditis, Pulmonary fibrosis, Abnormal pleura m... ORPHA:29207
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Pulmonary hemorrhage, Recurrent gastroenteritis, Pulmonary fibrosis, Recurrent enteroviral infect... ORPHA:79124
Bloom Syndrome
Recurrent herpes, Skin rash, Respiratory tract infection, Recurrent tonsillitis, Chronic pulmonar... ORPHA:125
Classic Pantothenate Kinase-Associated Neurodegeneration
Cough, Aspiration pneumonia, Weight loss ORPHA:216866
Gaucher Disease, Type Ii
Apnea, Recurrent aspiration pneumonia, Failure to thrive OMIM:230900
Hypoadrenocorticism, Familial
Adrenal insufficiency, Adrenal hypoplasia, Hypoglycemia OMIM:240200
Immunodeficiency 64
Recurrent lower respiratory tract infections, Bronchiectasis, Recurrent infections, Failure to th... OMIM:618534
Acquired Central Diabetes Insipidus
Weight loss ORPHA:95626
Leukocyte Adhesion Deficiency
Peritonitis, Bronchiectasis, Recurrent urinary tract infections, Pneumonia, Lymphocytic interstit... ORPHA:2968
Nephroblastoma
Neoplasm of the lung, Weight loss ORPHA:654
Orofaciodigital Syndrome Viii
Recurrent aspiration pneumonia, Hypoplasia of the epiglottis, Broad nasal tip OMIM:300484
Mcdonough Syndrome
Cachexia, Underdeveloped nasal alae, Prominent nose ORPHA:2471
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Recurrent fungal infections, Pneumonia, Recurrent viral infections, Asthma, Failure to thrive, Si... OMIM:102700
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Sepsis, Interstitial pneumonitis ORPHA:231154
Central Diabetes Insipidus
Failure to thrive, Weight loss ORPHA:178029
Immunodeficiency 36
Recurrent respiratory infections, Bronchiectasis, Recurrent bacterial infections OMIM:616005
Immunodeficiency 23
Allergic rhinitis, Bronchiectasis, Recurrent Staphylococcus aureus infections, Recurrent staphylo... OMIM:615816
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Recurrent aspiration pneumonia, Respiratory failure, Respiratory insufficiency due to muscle weak... ORPHA:2590
Rhabdoid Tumor
Weight loss, Respiratory insufficiency ORPHA:69077
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Abnormal lung morphology, Brain abscess, Weight loss ORPHA:54251
Geleophysic Dysplasia 3
Sleep apnea, Dyspnea, Bulbous nose, Subglottic stenosis, Pneumonia, Wide nasal bridge, Respirator... OMIM:617809
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Recurrent bronchitis, Bronchiectasis, Recurrent upper respiratory tract infections, Recurrent oti... ORPHA:293978
Pgm3-Cdg
Recurrent pneumonia, Esophagitis, Cutaneous abscess, Allergic rhinitis, Atopic dermatitis, Bronch... ORPHA:443811
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Restrictive ventilatory defect, Pneumonia OMIM:253700
Juvenile Huntington Disease
Weight loss ORPHA:248111
Pelizaeus-Merzbacher Disease
Recurrent respiratory infections, Cachexia, Failure to thrive in infancy, Respiratory insufficiency ORPHA:702
Attrv30M Amyloidosis
Weight loss ORPHA:85447
Eosinophilic Gastroenteritis
Allergic rhinitis, Asthma, Weight loss, Atopic dermatitis ORPHA:2070
Benign Recurrent Intrahepatic Cholestasis
Pancreatitis, Weight loss ORPHA:65682
Ornithine Transcarbamylase Deficiency
Hypoglycemia ORPHA:664
Desmoplastic Small Round Cell Tumor
Neoplasm of the lung, Cachexia, Weight loss ORPHA:83469
Cystic Echinococcosis
Invasive parasitic infection, Membranous nephropathy, Weight loss, Pulmonary cyst, Multiple pulmo... ORPHA:400
Cholestasis, Progressive Familial Intrahepatic, 5
Failure to thrive, Hypoglycemia OMIM:617049
Riboflavin Transporter Deficiency
Sleep apnea, Cachexia, Respiratory insufficiency ORPHA:97229
Wilson Disease
Acute hepatitis, Weight loss, Hepatitis, Increased body weight, Failure to thrive, Arthritis ORPHA:905
Hypercalcemia, Infantile, 1
Failure to thrive, Weight loss OMIM:143880
Inflammatory Pseudotumor Of The Liver
Weight loss ORPHA:90003
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Dyspnea, Abnormal respiratory system morphology, Tracheobronchial leiomyomatosis, Cough, Weight l... ORPHA:1018
Granulomatosis With Polyangiitis
Skin rash, Pleuritis, Pericarditis, Cough, Weight loss, Respiratory insufficiency, Sinusitis, Oti... ORPHA:900
Polymyositis
Pericarditis, Exertional dyspnea, Pulmonary fibrosis, Cough, Respiratory insufficiency, Weight lo... ORPHA:732
Perry Syndrome
Hypoventilation, Central hypoventilation, Weight loss, Respiratory insufficiency, Respiratory arrest OMIM:168605
Subcutaneous Panniculitis-Like T-Cell Lymphoma
Panniculitis, Weight loss ORPHA:86884
Multiple Endocrine Neoplasia, Type I
Prolactinoma, Elevated circulating growth hormone concentration, Increased circulating cortisol l... OMIM:131100
Liposarcoma
Weight loss ORPHA:69078
Good Syndrome
Dyspnea, Bronchiectasis, Cough, Recurrent urinary tract infections, Sinusitis, Recurrent skin inf... ORPHA:169105
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3
Pneumonia OMIM:608033
Rift Valley Fever
Meningitis, Encephalitis, Weight loss ORPHA:319251
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Apnea, Hypoventilation, Respiratory distress, Short nose, Aspiration pneumonia, Recurrent pneumon... ORPHA:314655
Brucellosis
Pericarditis, Pneumonia, Weight loss, Small for gestational age, Anterior uveitis, Myocarditis, O... ORPHA:1304
Ménétrier Disease
Helicobacter pylori infection, Weight loss, Giant hypertrophic gastritis ORPHA:2494
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency
Pancreatitis, Central sleep apnea, Aspiration pneumonia, Failure to thrive ORPHA:431361
Graves Disease, Susceptibility To, 1
Weight loss OMIM:275000
Alpha-Mannosidosis, Adult Form
Recurrent infections, Pneumonia, Recurrent gastroenteritis ORPHA:309288
Chops Syndrome
Short nose, Laryngomalacia, Chronic lung disease, Aspiration pneumonia, Tracheal stenosis, Obesity OMIM:616368
Leishmaniasis
Rhinitis, Weight loss ORPHA:507
Nodular Non-Suppurative Panniculitis
Panniculitis, Inflammatory abnormality of the eye, Weight loss ORPHA:33577
Spinocerebellar Ataxia 48
Cachexia OMIM:618093
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2
Bulbous nose, Anteverted nares, Failure to thrive in infancy, Cachexia, Prominent nasal bridge, P... OMIM:616801
Medullary Thyroid Carcinoma
Neoplasm of the lung, Weight loss ORPHA:1332
Sarcoidosis, Susceptibility To, 1
Inflammation of the large intestine, Restrictive ventilatory defect, Iridocyclitis, Dyspnea, Bron... OMIM:181000
Mucoepithelial Dysplasia, Hereditary
Fibrocystic lung disease, Pneumonia, Rhinorrhea, Chronic mucocutaneous candidiasis, Recurrent pne... OMIM:158310
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Decreased circulating cortisol level, Hyperactive renin-angiotensin system, Hypoglycemia, Increas... ORPHA:90790
Roifman-Chitayat Syndrome
Arthritis, Pneumonia, Wide nasal bridge, Depressed nasal bridge OMIM:613328
Wild Type Attr Amyloidosis
Abnormal pulmonary interstitial morphology, Pleural effusion, Pulmonary edema, Weight loss ORPHA:330001
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Recurrent upper respiratory tract infections, Interstitial pneumonitis, Desquamative interstitial... OMIM:615952
Osteosarcoma
Weight loss ORPHA:668
Acute Promyelocytic Leukemia
Exertional dyspnea, Stomatitis, Epistaxis, Productive cough, Weight loss, Diffuse alveolar hemorr... ORPHA:520
Pyruvate Dehydrogenase E1-Alpha Deficiency
Recurrent infections, Neonatal respiratory distress, Recurrent aspiration pneumonia, Small for ge... ORPHA:79243
Congenital Multicore Myopathy With External Ophthalmoplegia
Recurrent respiratory infections, Respiratory failure, Pneumonia, Abnormal respiratory system phy... ORPHA:98905
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Weight loss OMIM:613239
Wiskott-Aldrich Syndrome, Autosomal Dominant
Inflammation of the large intestine, Recurrent upper respiratory tract infections, Pneumonia, Epi... OMIM:600903
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Inflammatory abnormality of the skin, Overweight, Respiratory distress, Episodic tachypnea, Pneum... ORPHA:26793
Secondary Short Bowel Syndrome
Sepsis, Failure to thrive, Enterocolitis, Weight loss ORPHA:95427
Parkinson Disease 4, Autosomal Dominant
Weight loss OMIM:605543
Listeriosis
Peritonitis, Pustule, Endocarditis, Pericarditis, Respiratory distress, Pyelonephritis, Arteritis... ORPHA:533
Whipple Disease
Pleuritis, Pericarditis, Cough, Uveitis, Respiratory insufficiency, Cachexia, Encephalitis, Myoca... ORPHA:3452
Shigellosis
Peritonitis, Acute colitis, Uveitis, Pneumonia, Failure to thrive in infancy, Ulcerative colitis,... ORPHA:810
Igg4-Related Aortitis
Asthma, Weight loss, Increased inflammatory response ORPHA:449400
Coccidioidomycosis
Peritonitis, Skin rash, Coccidioidal meningitis, Pericarditis, Cough, Pneumonia, Osteomyelitis, R... ORPHA:228123
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Weight loss OMIM:188580
Cryptococcosis
Peritonitis, Prostatitis, Dyspnea, Respiratory distress, Pleural effusion, Cough, Pneumonia, Nodu... ORPHA:1546
Juvenile Neuronal Ceroid Lipofuscinosis
Apnea, Episodic tachypnea, Aspiration pneumonia ORPHA:79264
Cystic Fibrosis
Recurrent pneumonia, Bronchiectasis, Nasal polyposis, Recurrent bronchopulmonary infections, Chro... OMIM:219700
Huntington Disease
Decreased body mass index, Weight loss ORPHA:399
Fatal Familial Insomnia
Apnea, Weight loss OMIM:600072
Rheumatoid Arthritis
Rheumatoid arthritis, Weight loss OMIM:180300
Gm1 Gangliosidosis
Weight loss, Aspiration pneumonia, Encephalitis, Failure to thrive, Broad nasal tip, Recurrent re... ORPHA:354
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Pulmonary embolism, Recurrent infections, Pneumonia OMIM:226300
Zygomycosis
Peritonitis, Pericarditis, Cough, Sinusitis, Myocarditis, Air crescent sign, Endocarditis, Epista... ORPHA:73263
Congenital Enterocyte Heparan Sulfate Deficiency
Weight loss ORPHA:103910
Christianson Syndrome
Cachexia ORPHA:85278
Tetrasomy 12P
Short nose, Anteverted nares, Cachexia ORPHA:884
Generalized Glucocorticoid Resistance Syndrome
Increased urinary cortisol level, Increased circulating cortisol level, Abnormal circulating test... ORPHA:786
Oromandibular Dystonia
Respiratory distress, Weight loss ORPHA:93958
Ring Chromosome 10 Syndrome
Cachexia, Wide nasal bridge ORPHA:1438
Rett Syndrome
Increased serum leptin, Failure to thrive ORPHA:778
Mitochondrial Neurogastrointestinal Encephalomyopathy
Cachexia, Weight loss ORPHA:298
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked
Colitis, Bronchiectasis, Failure to thrive in infancy, Recurrent pneumonia OMIM:301220
Renpenning Syndrome
Cachexia, Prominent nose ORPHA:3242
Lipodystrophy Due To Peptidic Growth Factors Deficiency
Cachexia, Weight loss ORPHA:1979
Malt Lymphoma
Recurrent respiratory infections, Pulmonary infiltrates, Posterior uveitis, Weight loss ORPHA:52417
Xfe Progeroid Syndrome
Cachexia OMIM:610965
Acquired Hypertrichosis Lanuginosa
Weight loss ORPHA:2221
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Slender build, Cachexia, Weight loss OMIM:603041
19Q13.11 Microdeletion Syndrome
Recurrent respiratory infections, Underdeveloped nasal alae, Cachexia, Failure to thrive ORPHA:217346
Huntington Disease-Like 1
Weight loss ORPHA:157941
Mirage Syndrome
Recurrent urinary tract infections, Decreased body weight, Aspiration pneumonia, Recurrent bacter... OMIM:617053
Giant Cell Arteritis
Pericarditis, Abnormal pleura morphology, Cough, Epistaxis, Weight loss, Meningitis, Recurrent ph... ORPHA:397
Toxic Epidermal Necrolysis
Restrictive ventilatory defect, Respiratory distress, Abnormal pleura morphology, Cough, Recurren... ORPHA:537
Behçet Disease
Pleuritis, Pericarditis, Endocarditis, Increased inflammatory response, Retrobulbar optic neuriti... ORPHA:117
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Cachexia, Wide nasal bridge ORPHA:2774
Tenorio Syndrome
Apnea, Pneumonia, Stomatitis, Keratoconjunctivitis sicca, Anteverted nares, Wide nose OMIM:616260
Stevens-Johnson Syndrome
Restrictive ventilatory defect, Dyspnea, Abnormal pleura morphology, Cough, Weight loss, Conjunct... ORPHA:36426
Hennekam-Beemer Syndrome
Pneumonia, Respiratory insufficiency, Wide nasal bridge, Failure to thrive, Long nose, Wide nose ORPHA:2135
Igg4-Related Kidney Disease
Prostatitis, Abnormal lung morphology, Pleuritis, Pericarditis, Arteritis, Interstitial pneumonit... ORPHA:449395
Neuropathy, Congenital Hypomyelinating, 3
Cachexia, Respiratory insufficiency OMIM:618186
Combined Immunodeficiency With Faciooculoskeletal Anomalies
Recurrent fungal infections, Chronic oral candidiasis, Recurrent bacterial infections, Recurrent ... ORPHA:221139
Goodpasture Syndrome
Ground-glass opacification, Pulmonary hemorrhage, Restrictive ventilatory defect, Reticular patte... OMIM:233450
Spondyloenchondrodysplasia With Immune Dysregulation
Restrictive ventilatory defect, Rheumatoid arthritis, Recurrent otitis media, Recurrent sinusitis... OMIM:607944
Spondyloenchondrodysplasia
Skin rash, Pneumonia, Juvenile rheumatoid arthritis, Hepatitis, Recurrent infections, Arthritis ORPHA:1855
Atypical Werner Syndrome
Hyperinsulinemia, Hyperglycemia, Abnormality of circulating leptin level, Neoplasm of the thyroid... ORPHA:79474
Thymic Neuroendocrine Tumor
Abnormal breath sound, Cough, Weight loss ORPHA:97289
Primary Intestinal Lymphangiectasia
Meningitis, Pleural effusion, Failure to thrive, Weight loss ORPHA:90362
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome
Obstructive sleep apnea, Anteverted nares, Wide nasal bridge, Cachexia, Severe failure to thrive,... ORPHA:371364
Non-Functioning Paraganglioma
Weight loss ORPHA:94080
Acute Monoblastic/Monocytic Leukemia
Weight loss, Exertional dyspnea ORPHA:514
Juvenile Dermatomyositis
Skin rash, Restrictive ventilatory defect, Dyspnea, Pericarditis, Pulmonary fibrosis, Cough, Weig... ORPHA:93672
Acrodermatitis Enteropathica
Pustule, Cheilitis, Weight loss, Conjunctivitis, Failure to thrive, Blepharitis ORPHA:37
8P23.1 Microdeletion Syndrome
Short nose, Weight loss, Wide nasal bridge, Pulmonary artery stenosis, Prominent nasal bridge, Ob... ORPHA:251071
Glucose-Galactose Malabsorption
Failure to thrive, Weight loss ORPHA:35710
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Iridocyclitis, Hip osteoarthritis, Uveitis, Synovitis, Weight loss, Oligoarthritis, Knee osteoart... ORPHA:85408
Budd-Chiari Syndrome
Peritonitis, Weight loss, Cholecystitis ORPHA:131
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Panhypopituitarism, Decreased circulating ACTH level, Decreased circulating follicle stimulating ... ORPHA:226307
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Cachexia, Exertional dyspnea ORPHA:42
Hereditary Bullous Dystrophy, Macular Type
Pneumonia ORPHA:1867
Familial Glucocorticoid Deficiency
Recurrent infections, Failure to thrive, Recurrent urinary tract infections, Weight loss ORPHA:361
Solitary Fibrous Tumor/Hemangiopericytoma
Neoplasm of the lung, Weight loss, Neoplasia of the pleura ORPHA:2126
Isolated Succinate-Coq Reductase Deficiency
Weight loss ORPHA:3208
Malignant Atrophic Papulosis
Peritonitis, Arteritis, Pleural effusion, Weight loss, Respiratory failure ORPHA:679
Congenital Fiber-Type Disproportion Myopathy
Hypercapnia, Weight loss, Respiratory insufficiency due to muscle weakness, Intercostal muscle we... ORPHA:2020
Infection-Related Hemolytic Uremic Syndrome
Acute colitis, Respiratory tract infection, Pleuritis, Dyspnea, Severe viral infection, Pneumonia... ORPHA:544482
Atrial Septal Defect, Coronary Sinus Type
Anomalous pulmonary venous return, Dyspnea, Exertional dyspnea, Increased pulmonary vascular resi... ORPHA:99104
Congenital Tufting Enteropathy
Choanal atresia, Punctate keratitis, Weight loss, Failure to thrive, Arthritis ORPHA:92050
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Cachexia ORPHA:1933
Shwachman-Diamond Syndrome
Skin rash, Pneumonia, Recurrent viral infections, Failure to thrive, Sinusitis, Eczema, Sepsis, O... ORPHA:811
Infantile Krabbe Disease
Respiratory distress, Laryngomalacia, Respiratory failure, Cachexia, Failure to thrive, Recurrent... ORPHA:206436
Proximal Spinal Muscular Atrophy
Restrictive ventilatory defect, Hypoventilation, Respiratory insufficiency due to muscle weakness... ORPHA:70
Severe Generalized Junctional Epidermolysis Bullosa
Gastrointestinal inflammation, Stridor, Respiratory distress, Dyspnea, Pyoderma, Pneumonia, Laryn... ORPHA:79404
Flynn-Aird Syndrome
Cachexia ORPHA:2047
Aredyld Syndrome
Abnormal nasal morphology, Cachexia ORPHA:1133
Celiac Disease, Susceptibility To, 1
Thyroiditis, Stomatitis, Weight loss, Failure to thrive, Eczema, Recurrent aphthous stomatitis OMIM:212750
Atrial Septal Defect, Ostium Secundum Type
Dyspnea, Exertional dyspnea, Increased pulmonary vascular resistance, Orthopnea, Pneumonia, Breat... ORPHA:99103
Fryns-Smeets-Thiry Syndrome
Prominent nasal bridge, Cachexia, Narrow nasal bridge ORPHA:2058
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Skin rash, Sepsis, Pneumonia ORPHA:247691
Late-Onset Isolated Acth Deficiency
Hashimoto thyroiditis, Weight loss, Hepatitis, Failure to thrive, Sepsis ORPHA:199299
X-Linked Dystonia-Parkinsonism
Aspiration pneumonia, Laryngeal stridor ORPHA:53351
Dermatomyositis
Pericarditis, Pulmonary fibrosis, Weight loss, Respiratory insufficiency, Abnormal pulmonary inte... ORPHA:221
Chronic Graft Versus Host Disease
Wheezing, Dyspnea, Bronchiectasis, Urinary bladder inflammation, Cough, Pleural effusion, Weight ... ORPHA:99921
Klatskin Tumor
Weight loss ORPHA:99978
Nijmegen Breakage Syndrome
Recurrent bronchitis, Bronchiectasis, Choanal atresia, Recurrent urinary tract infections, Sinusi... OMIM:251260
Non-Acquired Panhypopituitarism
Decreased circulating ACTH level, Ectopic anterior pituitary gland, Absence of secondary sex char... ORPHA:90695
Refractory Celiac Disease
Weight loss, Inflammatory abnormality of the skin ORPHA:398063
Erdheim-Chester Disease
Skin rash, Dyspnea, Pulmonary fibrosis, Pleural effusion, Cough, Weight loss, Abnormal pulmonary ... ORPHA:35687
Polycythemia Vera
Pulmonary embolism, Epistaxis, Weight loss, Respiratory insufficiency ORPHA:729
Short Syndrome
Weight loss, Wide nasal bridge ORPHA:3163
Marshall-Smith Syndrome
Apnea, Obstructive sleep apnea, Short nose, Choanal atresia, Decreased body weight, Laryngomalaci... OMIM:602535
Primary Hepatic Neuroendocrine Carcinoma
Neoplasm of the lung, Dyspnea, Bronchospasm, Weight loss ORPHA:100085
Aggressive Systemic Mastocytosis
Maculopapular exanthema, Weight loss ORPHA:98850
Poems Syndrome
Restrictive ventilatory defect, Pleural effusion, Respiratory insufficiency due to muscle weaknes... ORPHA:2905
Lipodystrophy, Congenital Generalized, Type 1
Decreased serum leptin, Insulin-resistant diabetes mellitus at puberty, Hyperinsulinemia OMIM:608594
Cronkhite-Canada Syndrome
Cachexia ORPHA:2930
Infantile Neuroaxonal Dystrophy
Apneic episodes in infancy, Aspiration pneumonia ORPHA:35069
Rett Syndrome
Apnea, Intermittent hyperventilation, Cachexia OMIM:312750
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Small for gestational age, Weight loss ORPHA:424
Orofaciodigital Syndrome Ix
Recurrent aspiration pneumonia, Hypoplasia of the epiglottis, Broad nasal tip OMIM:258865
Neuroblastoma, Susceptibility To, 1
Failure to thrive, Weight loss OMIM:256700
Mercury Poisoning
Dyspnea, Respiratory failure, Respiratory distress, Interstitial pneumonitis ORPHA:330021
Al Amyloidosis
Dyspnea, Nonproductive cough, Weight loss, Abnormal pulmonary interstitial morphology, Pulmonary ... ORPHA:85443
Neuroendocrine Tumor Of The Colon
Bronchospasm, Weight loss ORPHA:100080
Mohr-Tranebjaerg Syndrome
Aspiration pneumonia ORPHA:52368
Lipodystrophy, Congenital Generalized, Type 2
Decreased serum leptin, Insulin-resistant diabetes mellitus at puberty, Hyperinsulinemia OMIM:269700
Wolman Disease
Cachexia ORPHA:75233
Oculopharyngodistal Myopathy 1
Restrictive ventilatory defect, Hypercapnia, Weight loss, Bowing of the vocal cords, Respiratory ... OMIM:164310
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome
Cachexia, Abnormality of the pharynx ORPHA:3217
Alveolar Echinococcosis
Cutaneous abscess, Dyspnea, Cough, Weight loss, Pulmonary cyst, Cholangitis, Hemoptysis ORPHA:284
Fanconi Anemia, Complementation Group F
Pneumonia, Failure to thrive OMIM:603467
Symptomatic Form Of Hemochromatosis Type 1
Weight loss, Arthritis ORPHA:465508
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Recurrent herpes, Recurrent Aspergillus infections, Bronchiectasis, Recurrent upper respiratory t... ORPHA:391487
Mucolipidosis Type Ii
Restrictive ventilatory defect, Respiratory failure requiring assisted ventilation, Recurrent res... ORPHA:576
Beta-Ketothiolase Deficiency
Tachypnea, Cough, Weight loss ORPHA:134
Nijmegen Breakage Syndrome
Recurrent sinopulmonary infections, Prominent nose, Respiratory failure, Cachexia, Recurrent pneu... ORPHA:647
Alpha-Mannosidosis, Infantile Form
Abnormality of the sphenoid sinus, Recurrent gastroenteritis, Recurrent urinary tract infections,... ORPHA:309282
Carney-Stratakis Syndrome
Weight loss ORPHA:97286
Adrenocortical Carcinoma
Lung adenocarcinoma, Increased body weight, Weight loss ORPHA:1501
Amoebiasis Due To Free-Living Amoebae
Respiratory tract infection, Pustule, Unusual skin infection, Pneumonia, Encephalitis, Sinusitis ORPHA:68
Gallbladder Neuroendocrine Tumor