Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
peroxiredoxin 3
Synonyms:
Mer5,  TDXM,  Ef2l,  D0Tohi1,  Aop1,  Prx III,  SP22

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

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.

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 Prdx3 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 Prdx3 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Akt2-Related Familial Partial Lipodystrophy
Decreased serum leptin, Increased intraabdominal fat, Insulin resistance, Lipodystrophy, Insulin-... ORPHA:79085
Lipe-Related Familial Partial Lipodystrophy
Decreased serum leptin, Increased intraabdominal fat, Insulin resistance, Lipodystrophy, Increase... ORPHA:435660
Obesity Due To Melanocortin 4 Receptor Deficiency
Hyperinsulinemia, Hypertriglyceridemia, Increased adipose tissue, Type II diabetes mellitus, Chil... ORPHA:71529
Cidec-Related Familial Partial Lipodystrophy
Decreased serum leptin, Lipodystrophy, Insulin-resistant diabetes mellitus, Hypertriglyceridemia,... ORPHA:435651
Immunodeficiency 11
Recurrent respiratory infections, Pneumonia OMIM:615206
Lipodystrophy, Familial Partial, Type 6
Insulin resistance, Lipodystrophy, Abnormal circulating lipid concentration, Abdominal obesity, E... OMIM:615980
Immunodeficiency 51
Folliculitis, Recurrent bronchitis, Cutaneous abscess, Pustule, Chronic oral candidiasis, Recurre... OMIM:613953
Plin1-Related Familial Partial Lipodystrophy
Hyperinsulinemia, Lipoatrophy, Hypertriglyceridemia, Loss of gluteal subcutaneous adipose tissue,... ORPHA:280356
Multiple Symmetric Lipomatosis
Abnormal adipose tissue morphology, Multiple lipomas, Insulin resistance ORPHA:2398
Lipodystrophy, Familial Partial, Type 7
Hypercholesterolemia, Lack of facial subcutaneous fat, Glucose intolerance, Insulin resistance, I... OMIM:606721
Lipodystrophy, Congenital Generalized, Type 3
Hypercholesterolemia, Hypocalcemia, Insulin resistance, Lipodystrophy, Hypertriglyceridemia, Redu... OMIM:612526
Hyperinsulinism Due To Insr Deficiency
Hyperinsulinemic hypoglycemia, Insulin resistance, Recurrent hypoglycemia, Abnormal C-peptide lev... ORPHA:263458
Morbid Obesity And Spermatogenic Failure
Hypercholesterolemia, Insulin resistance, Hypertriglyceridemia, Type II diabetes mellitus, Decrea... OMIM:615703
Short Stature Due To Primary Acid-Labile Subunit Deficiency
Delayed puberty, Truncal obesity, Decreased serum insulin-like growth factor 1, Insulin resistance ORPHA:140941
Coronary Artery Disease, Autosomal Dominant 2
Hypercholesterolemia, Glucose intolerance, Impaired glucose tolerance, Hypertriglyceridemia, Diab... OMIM:610947
Growth Hormone Insensitivity Syndrome
Hypercholesterolemia, Insulin resistance, Hypoglycemia, Truncal obesity, Type II diabetes mellitu... ORPHA:181393
Lipodystrophy, Familial Partial, Type 3
Maternal diabetes, Hyperinsulinemia, Lipodystrophy, Hyperuricemia, Insulin-resistant diabetes mel... OMIM:604367
Obesity Due To Prohormone Convertase I Deficiency
Hypoglycemic seizures, Gonadotropin deficiency, Hyperinsulinemia, Pituitary hypothyroidism, Centr... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Hypoglycemic seizures, Gonadotropin deficiency, Hyperinsulinemia, Pituitary hypothyroidism, Centr... ORPHA:71526
Hyperinsulinism Due To Glucokinase Deficiency
Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Recurrent hypoglycemia, Abnormal C-pepti... ORPHA:79299
Glycogen Storage Disease Vi
Hypercholesterolemia, Hypoglycemia, Failure to thrive in infancy, Hypertriglyceridemia, Hyperlipi... OMIM:232700
Mounier-Kühn Syndrome
Pneumonia, Recurrent bronchopulmonary infections, Tracheal stenosis, Bronchitis, Tracheobronchmeg... ORPHA:3347
Hyperinsulinism Due To Hnf1A Deficiency
Hypoglycemic seizures, Fasting hypoglycemia, Maturity-onset diabetes of the young, Maternal diabe... ORPHA:324575
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Hypoglycemic seizures, Neonatal hypoglycemia, Hypoketotic hypoglycemia, Nonketotic hypoglycemia, ... ORPHA:293964
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Minimal subcutaneous fat, Increased intraabdominal fat, Decreased serum leptin, Insulin resistanc... ORPHA:280365
Immunodeficiency 48
Eczematoid dermatitis, Pneumonia, Failure to thrive OMIM:269840
Insulin Autoimmune Syndrome
Fasting hypoglycemia, Hyperinsulinemic hypoglycemia, Insulin resistance, Nonketotic hypoglycemia,... ORPHA:411593
Hyperinsulinemic Hypoglycemia, Familial, 1
Hypoglycemic seizures, Large for gestational age, Hyperinsulinemic hypoglycemia, Pancreatic islet... OMIM:256450
Familial Partial Lipodystrophy, Köbberling Type
Lipoatrophy, Hyperinsulinemia, Diabetes mellitus, Insulin resistance ORPHA:79084
Glycogen Storage Disease Ixa1
Hypercholesterolemia, Hypertriglyceridemia, Hypoglycemia OMIM:306000
Idiopathic Achalasia
Wheezing, Cough, Weight loss, Bronchitis, Recurrent aspiration pneumonia ORPHA:930
Type 2 Diabetes Mellitus
Increased waist to hip ratio, Type II diabetes mellitus, Insulin resistance OMIM:125853
Hyperinsulinemic Hypoglycemia, Familial, 2
Pancreatic islet-cell hyperplasia, Large for gestational age, Hyperinsulinemic hypoglycemia, Hypo... OMIM:601820
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
Temple Syndrome
Hypercholesterolemia, Maturity-onset diabetes of the young, Overweight, Flexion contracture, Hype... OMIM:616222
Congenital Generalized Lipodystrophy
Hypercholesterolemia, Hyperinsulinemia, Insulin resistance, Adipose tissue loss, Lipodystrophy, H... ORPHA:528
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Delayed thelarche, Delayed puberty, Hyperinsulinemic hypoglycemia, Dorsocervical fat pad OMIM:616033
Mandibuloacral Dysplasia
Hypercholesterolemia, Increased intraabdominal fat, Hyperinsulinemia, Glucose intolerance, Insuli... ORPHA:2457
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hypoglycemic seizures, Fasting hypoglycemia, Focal pancreatic islet hyperplasia, Hyperinsulinemic... ORPHA:276575
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
Hyperinsulinemic Hypoglycemia, Familial, 3
Hypoglycemic seizures, Diabetes mellitus, Hyperinsulinemic hypoglycemia OMIM:602485
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hypoglycemic seizures, Fasting hypoglycemia, Abnormal oral glucose tolerance, Maternal diabetes, ... ORPHA:276580
Immunodeficiency 11B With Atopic Dermatitis
Atopic dermatitis, Pneumonia, Asthma OMIM:617638
Mucus Inspissation Of Respiratory Tract
Chronic pulmonary obstruction, Bronchiectasis, Atelectasis, Chronic sinusitis, Recurrent respirat... OMIM:253240
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Hypoglycemia, Pancreatic ... OMIM:610021
Lipodystrophy, Familial Partial, Type 1
Lipodystrophy, Increased adipose tissue around the neck, Insulin-resistant diabetes mellitus, Hyp... OMIM:608600
Hyperinsulinemic Hypoglycemia, Familial, 5
Hypoglycemic seizures, Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia OMIM:609968
Cholesterol-Ester Transfer Protein Deficiency
Hypercholesterolemia, Hypotriglyceridemia, Increased HDL cholesterol concentration, Hyperlipoprot... ORPHA:79506
Severe Neurodegenerative Syndrome With Lipodystrophy
Hyperinsulinemia, Insulin resistance, Reduced intraabdominal adipose tissue, Hypertriglyceridemia... ORPHA:363400
Ciliary Dyskinesia, Primary, 21
Chronic sinusitis, Bronchiectasis, Ciliary dyskinesia, Recurrent otitis media, Atelectasis, Neona... OMIM:615294
Lipodystrophy, Familial Partial, Type 2
Hypercholesterolemia, Increased intraabdominal fat, Hyperinsulinemia, Adipose tissue loss, Increa... OMIM:151660
Idiopathic Bronchiectasis
Respiratory tract infection, Wheezing, Dyspnea, Bronchiectasis, Emphysema, Decreased pulmonary fu... ORPHA:60033
Young Syndrome
Recurrent bronchitis, Congenital cystic adenomatoid malformation of the lung, Bronchiectasis, Rec... OMIM:279000
Ciliary Dyskinesia, Primary, 9
Bronchiectasis, Ciliary dyskinesia, Recurrent otitis media, Recurrent sinusitis, Cough, Pneumonia... OMIM:612444
Immunodeficiency 32B
Recurrent respiratory infections, Pneumonia, Bronchiectasis, Sinusitis OMIM:226990
Analbuminemia
Hypercholesterolemia, Elevated circulating transferrin concentration, Lipodystrophy, Hypoalbumine... OMIM:616000
Ciliary Dyskinesia, Primary, 27
Bronchiectasis, Ciliary dyskinesia, Recurrent otitis media, Recurrent sinusitis, Recurrent respir... OMIM:615504
Hyperinsulinemic Hypoglycemia, Familial, 4
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:609975
Lipodystrophy, Partial, Acquired, Susceptibility To
Loss of subcutaneous adipose tissue from upper limbs, Abnormal circulating lipid concentration, P... OMIM:608709
Ciliary Dyskinesia, Primary, 33
Recurrent bronchitis, Bronchiectasis, Ciliary dyskinesia, Recurrent otitis media, Cough, Atelecta... OMIM:616726
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive
Eczema, Failure to thrive secondary to recurrent infections, Pneumonia, Otitis media OMIM:608971
Agammaglobulinemia 1, Autosomal Recessive
Bronchiectasis, Recurrent otitis media, Recurrent sinusitis, Pneumonia, Sinusitis, Conjunctivitis... OMIM:601495
Maturity-Onset Diabetes Of The Young, Type 11
Maturity-onset diabetes of the young, Diabetes mellitus, Overweight, Obesity OMIM:613375
Ciliary Dyskinesia, Primary, 23
Bronchiectasis, Ciliary dyskinesia, Recurrent otitis media, Recurrent sinusitis, Productive cough... OMIM:615451
Hyperinsulinism Due To Ucp2 Deficiency
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Diffuse pancreatic islet hyperplasia, Hypok... ORPHA:276556
Mandibuloacral Dysplasia With Type B Lipodystrophy
Hyperinsulinemia, Glucose intolerance, Flexion contracture, Insulin-resistant diabetes mellitus, ... OMIM:608612
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Insulin resistance, Lipodystrophy, Flexion contracture, Hypertriglyceridemia, Hypogonadism, Diabe... OMIM:615381
Acquired Partial Lipodystrophy
Lipoatrophy, Insulin resistance ORPHA:79087
Tracheobronchomegaly
Recurrent bronchopulmonary infections, Bronchiectasis, Diverticulosis of trachea OMIM:275300
Combined Immunodeficiency, X-Linked
Recurrent bronchitis, Pneumonia, Otitis media, Sinusitis OMIM:312863
Cortisone Reductase Deficiency 2
Obesity, Premature pubarche, Insulin resistance OMIM:614662
Homozygous 11P15-P14 Deletion Syndrome
Failure to thrive, Hyperinsulinemia, Hypoglycemia OMIM:606528
Insulinomatosis And Diabetes Mellitus
Hyperinsulinemic hypoglycemia, Glucose intolerance, Impaired glucose tolerance, Multiple pancreat... OMIM:147630
Hypothyroidism, Congenital, Nongoitrous, 8
Hypercholesterolemia, Central hypothyroidism, Inappropriately normal thyroid-stimulating hormone ... OMIM:301033
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Failure to thrive secondary to recurrent infections, Purulent rhinitis, Pneumonia, Conjunctivitis... OMIM:601457
Diabetes Mellitus, Ketosis-Prone
Beta-cell dysfunction, Diabetes mellitus, Insulin resistance OMIM:612227
Mandibuloacral Dysplasia With Type A Lipodystrophy
Hyperinsulinemia, Impaired glucose tolerance, Increased adipose tissue around the neck, Flexion c... OMIM:248370
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Fasting hypoglycemia, Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Hypoketotic hypoglycemia, ... ORPHA:276608
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
Atopic dermatitis, Pneumonia, Recurrent upper respiratory tract infections OMIM:618806
Obesity Due To Congenital Leptin Deficiency
Decreased serum leptin, Hyperinsulinemia, Hypergonadotropic hypogonadism, Absence of secondary se... ORPHA:66628
Obesity Due To Leptin Receptor Gene Deficiency
Decreased serum leptin, Hyperinsulinemia, Hypergonadotropic hypogonadism, Absence of secondary se... ORPHA:179494
Hypoglycemia, Leucine-Induced
Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:240800
Ciliary Dyskinesia, Primary, 5
Recurrent bronchitis, Respiratory tract infection, Bronchiectasis, Ciliary dyskinesia, Recurrent ... OMIM:608647
Hyperinsulinemic Hypoglycemia, Familial, 6
Hypoglycemic seizures, Asymptomatic hyperammonemia, Hyperinsulinemic hypoglycemia OMIM:606762
Sitosterolemia 2
Hypercholesterolemia, Elevated circulating sitosterol concentration OMIM:618666
Transient Neonatal Diabetes Mellitus
Maturity-onset diabetes of the young, Maternal diabetes, Hypothyroidism, Umbilical hernia, Hypoin... ORPHA:99886
Retinitis Pigmentosa
Hyperinsulinemia, Atypical scarring of skin, Type II diabetes mellitus, Hypogonadism, Obesity ORPHA:791
Body Mass Index Quantitative Trait Locus 19
Obesity, Hyperlipidemia, Insulin resistance OMIM:617885
Tracheobronchopathia Osteochondroplastica
Abnormal sputum, Esophagitis, Wheezing, Tracheal calcification, Exertional dyspnea, Pneumonia, Re... ORPHA:3348
Familial Partial Lipodystrophy, Dunnigan Type
Cellulitis, Insulin resistance, Lipodystrophy, Lipoatrophy, Hypertriglyceridemia, Diabetes mellit... ORPHA:2348
Galactokinase Deficiency
Hypercholesterolemia, Hyperinsulinemia, Hypergonadotropic hypogonadism, Increased level of galact... ORPHA:79237
Ciliary Dyskinesia, Primary, 28
Bronchiectasis, Ciliary dyskinesia, Recurrent otitis media, Recurrent sinusitis, Recurrent respir... OMIM:615505
Familial Multiple Lipomatosis
Insulin resistance, Lipodystrophy, Overgrowth, Increased adipose tissue, Hyperlipidemia ORPHA:199276
Lipase Deficiency, Combined
Hypertriglyceridemia, Lipodystrophy, Type II diabetes mellitus OMIM:246650
Acquired Generalized Lipodystrophy
Hyperinsulinemia, Insulin resistance, Panniculitis, Abnormal circulating lipid concentration, Ins... ORPHA:79086
Mody
Abnormal oral glucose tolerance, Hyperinsulinemic hypoglycemia, Neonatal hypoglycemia, Glucose in... ORPHA:552
Cholesterol Pneumonia
Tachypnea, Cough, Pneumonia OMIM:215030
Ciliary Dyskinesia, Primary, 39
Bronchiectasis, Recurrent otitis media, Cough, Rhinorrhea, Chronic lung disease, Recurrent lower ... OMIM:618254
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Hypercholesterolemia, Maturity-onset diabetes of the young, Precocious puberty, Obesity ORPHA:254531
Ciliary Dyskinesia, Primary, 29
Bronchiectasis, Ciliary dyskinesia, Atelectasis, Decreased nasal nitric oxide, Recurrent respirat... OMIM:615872
Hyperinsulinism-Hyperammonemia Syndrome
Asymptomatic hyperammonemia, Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Reactive hy... ORPHA:35878
Pparg-Related Familial Partial Lipodystrophy
Maternal diabetes, Insulin resistance, Lipoatrophy, Hyperuricemia, Insulin-resistant diabetes mel... ORPHA:79083
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hyperinsulinemia, Hypergonadotropic hypogonadism, Keloids, Type II diabetes mellitus, Obesity ORPHA:3085
Insulin-Resistance Syndrome Type B
Hyperinsulinemic hypoglycemia, Abnormal circulating lipid concentration, Weight loss, Hypoalbumin... ORPHA:2298
Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome
Wide nasal bridge, Aspiration pneumonia, Failure to thrive, Depressed nasal bridge OMIM:609528
Ciliary Dyskinesia, Primary, 3
Bronchiectasis, Ciliary dyskinesia, Recurrent otitis media, Recurrent sinusitis, Neonatal respira... OMIM:608644
Body Mass Index Quantitative Trait Locus 20
Hyperinsulinemia, Tall stature, Obesity OMIM:618406
Immunodeficiency 56
Chronic hepatitis due to cryptosporidium infection, Bronchiectasis, Recurrent sinusitis, Pneumoni... OMIM:615207
Coronary Artery Disease, Autosomal Dominant, 1
Hypercholesterolemia OMIM:608320
Muscular Hypertonia, Lethal
Pneumonia OMIM:254120
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Obesity Due To Sim1 Deficiency
Glucose intolerance, Hyperinsulinemia, Obesity ORPHA:369873
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Hyperinsulinemia, Obesity ORPHA:329249
Ciliary Dyskinesia, Primary, 32
Bronchiectasis, Ciliary dyskinesia, Neonatal respiratory distress, Immotile cilia, Recurrent resp... OMIM:616481
Allergic Bronchopulmonary Aspergillosis
Bronchiectasis, Emphysema, Cough, Weight loss, Respiratory insufficiency, Asthma, Hemoptysis, Pul... ORPHA:1164
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Truncal obesity, Large for gestational age, Neonatal hypoglycemia OMIM:240900
Ciliary Dyskinesia, Primary, 36, X-Linked
Bronchiectasis, Cough, Recurrent sinusitis, Neonatal respiratory distress, Recurrent respiratory ... OMIM:300991
Lipodystrophy, Familial Partial, Type 4
Hypertriglyceridemia, Lipoatrophy, Diabetes mellitus OMIM:613877
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Short nose, Pneumonia, Anteverted nares, Chronic bronchitis, Depressed nasal bridge OMIM:614069
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Fasting hypoglycemia, Hyperinsulinemia, Postprandial hyperglycemia, Hypoglycemia, Insulin-resista... OMIM:262190
Ciliary Dyskinesia, Primary, 20
Bronchiectasis, Ciliary dyskinesia, Recurrent otitis media, Recurrent sinusitis, Absent outer dyn... OMIM:615067
Laron Syndrome
Hypercholesterolemia, Hypoglycemia, Truncal obesity, Delayed puberty, Abnormality of the endocrin... ORPHA:633
Primary Lipodystrophy
Insulin resistance, Lipodystrophy, Lipoatrophy, Type II diabetes mellitus, Hyperlipidemia ORPHA:90970
Familial Nasal Acilia
Dyspnea, Respiratory distress, Bronchiectasis, Recurrent upper respiratory tract infections, Atel... ORPHA:922
Ciliary Dyskinesia, Primary, 41
Recurrent otitis media, Impaired nasal mucociliary clearance, Recurrent sinusitis, Bronchiectasis OMIM:618449
Ciliary Dyskinesia, Primary, 45
Bronchiectasis, Absent inner and outer dynein arms, Immotile cilia, Chronic rhinitis, Recurrent r... OMIM:618801
Hyperinsulinism Due To Hnf4A Deficiency
Fasting hypoglycemia, Hyperinsulinemic hypoglycemia, Neonatal hypoglycemia, Hyperinsulinemia, Hyp... ORPHA:263455
Hyperlipoproteinemia, Type Ii, And Deafness
Hypercholesterolemia, Hypertriglyceridemia, Increased LDL cholesterol concentration OMIM:144300
Surfactant Metabolism Dysfunction, Pulmonary, 2
Bronchiectasis, Interstitial pneumonitis, Cough, Respiratory insufficiency, Pulmonary arterial hy... OMIM:610913
Acanthosis Nigricans With Muscle Cramps And Acral Enlargement
Insulin resistance OMIM:200170
Congenital Disorder Of Glycosylation, Type Iip
Hypercholesterolemia, Decreased circulating ceruloplasmin concentration, Increased LDL cholestero... OMIM:616829
Lipodystrophy, Congenital Generalized, Type 4
Hyperinsulinemia, Insulin resistance, Lipodystrophy, Flexion contracture, Hypertriglyceridemia, F... OMIM:613327
Chronic Beryllium Disease
Ground-glass opacification, Abnormality on pulmonary function testing, Dyspnea, Pulmonary fibrosi... ORPHA:133
Ciliary Dyskinesia, Primary, 11
Abnormal ciliary motility, Bronchiectasis, Ciliary dyskinesia, Recurrent sinusitis, Recurrent res... OMIM:612649
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive
Lymphocytic interstitial pneumonia, Respiratory distress, Failure to thrive OMIM:245590
Perlman Syndrome
Inguinal hernia, Hyperinsulinemia, Tall stature, Femoral hernia ORPHA:2849
Congenital Analbuminemia
Hypercholesterolemia, Hypoproteinemia, Lipodystrophy, Small for gestational age, Hypoalbuminemia,... ORPHA:86816
Lipodystrophy, Familial Partial, Type 5
Hypertriglyceridemia, Lipodystrophy, Abnormal circulating lipid concentration OMIM:615238
Diarrhea 7, Protein-Losing Enteropathy Type
Hypercholesterolemia, Hypoalbuminemia, Hyperlipidemia, Failure to thrive OMIM:615863
Ciliary Dyskinesia, Primary, 24
Bronchiectasis, Ciliary dyskinesia, Recurrent sinusitis, Rhinitis, Sinusitis OMIM:615481
Insulinoma
Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Fasting hyperinsulinemia, Neoplasm of the adrena... ORPHA:97279
Idiopathic Pulmonary Fibrosis
Ground-glass opacification, Reticular pattern on pulmonary HRCT, Bronchiectasis, Pulmonary fibros... ORPHA:2032
Ciliary Dyskinesia, Primary, 35
Bronchiectasis, Cough, Nasal polyposis, Chronic rhinitis, Chronic sinusitis, Recurrent respirator... OMIM:617092
Pneumocystosis
Dyspnea, Chronic oral candidiasis, Interstitial pneumonitis, Exertional dyspnea, Parenchymal cons... ORPHA:723
Donohue Syndrome
Fasting hypoglycemia, Hyperinsulinemia, Postprandial hyperglycemia, Adipose tissue loss, Severe f... OMIM:246200
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Hypercholesterolemia, Maturity-onset diabetes of the young, Truncal obesity, Small for gestationa... ORPHA:96184
Ciliary Dyskinesia, Primary, 26
Bronchiectasis, Ciliary dyskinesia, Recurrent otitis media, Recurrent sinusitis, Absent outer dyn... OMIM:615500
Ciliary Dyskinesia, Primary, 15
Chronic sinusitis, Wheezing, Bronchiectasis, Ciliary dyskinesia, Recurrent otitis media, Abnormal... OMIM:613808
Diabetes Mellitus, Permanent Neonatal, 2
Hyperglycemia, Flexion contracture, Type I diabetes mellitus, Reduced C-peptide level OMIM:618856
Ciliary Dyskinesia, Primary, 34
Reduced respiratory ciliary beating frequency, Recurrent bronchitis, Bronchiectasis, Recurrent si... OMIM:617091
Ciliary Dyskinesia, Primary, 12
Bronchiectasis, Ciliary dyskinesia, Chronic rhinitis, Chronic sinusitis, Recurrent respiratory in... OMIM:612650
Lipodystrophy Due To Peptidic Growth Factors Deficiency
Lipodystrophy, Flexion contracture, Lipoatrophy, Weight loss, Abnormal circulating lipid concentr... ORPHA:1979
Immunodeficiency 62
Bronchiectasis OMIM:618459
Hereditary Pulmonary Alveolar Proteinosis
Restrictive ventilatory defect, Respiratory distress, Cough, Respiratory failure requiring assist... ORPHA:264675
Ciliary Dyskinesia, Primary, 7
Restrictive ventilatory defect, Abnormal ciliary motility, Bronchiectasis, Ciliary dyskinesia, Re... OMIM:611884
Ciliary Dyskinesia, Primary, 16
Abnormal ciliary motility, Bronchiectasis, Ciliary dyskinesia, Absent outer dynein arms, Chronic ... OMIM:614017
Bardet-Biedl Syndrome 6
Diabetes mellitus, Obesity OMIM:605231
Ciliary Dyskinesia, Primary, 25
Chronic pulmonary obstruction, Bronchiectasis, Ciliary dyskinesia, Recurrent sinusitis, Immotile ... OMIM:615482
Bare Lymphocyte Syndrome, Type I
Recurrent bronchitis, Bronchiectasis, Bronchiolitis, Emphysema, Chronic otitis media, Nasal polyp... OMIM:604571
Intellectual Developmental Disorder And Hypogonadotropic Hypogonadism
Decreased circulating follicle stimulating hormone concentration, Hyperinsulinemia, Central hypot... OMIM:619326
Mandibuloacral Dysplasia With Type B Lipodystrophy
Insulin resistance, Calcinosis, Delayed puberty, Generalized lipodystrophy, Hyperlipidemia ORPHA:90154
Lipodystrophy, Congenital Generalized, Type 1
Decreased serum leptin, Hyperinsulinemia, Reduced intraabdominal adipose tissue, Lipodystrophy, U... OMIM:608594
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Glomerulonephritis, Pneumonia OMIM:247800
Rabson-Mendenhall Syndrome
Fasting hypoglycemia, Insulin resistance, Postprandial hyperglycemia, Impaired glucose tolerance,... ORPHA:769
Ciliary Dyskinesia, Primary, 43
Bronchiectasis, Recurrent upper respiratory tract infections, Productive cough, Neonatal respirat... OMIM:618699
Citrullinemia, Type Ii, Neonatal-Onset
Hypercholesterolemia, Hyperbilirubinemia, Hypermethioninemia, Hypertriglyceridemia, Failure to th... OMIM:605814
Pulmonary Alveolar Proteinosis, Acquired
Lung abscess, Restrictive ventilatory defect, Intraalveolar phospholipid accumulation, Dyspnea, C... OMIM:610910
Distal Myopathy, Tateyama Type
Abnormal circulating creatine kinase concentration, Hypercholesterolemia ORPHA:488650
Hypercholesterolemia, Familial, 4
Hypercholesterolemia, Increased VLDL cholesterol concentration, Hypertriglyceridemia OMIM:603813
Growth Factors, Combined Defect Of
Lipodystrophy, Reduced subcutaneous adipose tissue, Flexion contracture, Insulin-resistant diabet... OMIM:233805
Ciliary Dyskinesia, Primary, 13
Recurrent bronchitis, Bronchiectasis, Ciliary dyskinesia, Absent inner dynein arms, Absent outer ... OMIM:613193
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Insulin resistance, Hypoglycemia, Truncal obesity, Neonatal hyperbilirubinemia, Small for gestati... ORPHA:73272
Ciliary Dyskinesia, Primary, 30
Bronchiectasis, Ciliary dyskinesia, Recurrent otitis media, Cough, Absent outer dynein arms, Nasa... OMIM:616037
Short Syndrome
Abnormal dental enamel morphology, Insulin resistance, Lipodystrophy, Weight loss, Inguinal herni... ORPHA:3163
Estrogen Resistance
Glucose intolerance, Impaired glucose tolerance, Hyperinsulinemia OMIM:615363
Lipodystrophy, Congenital Generalized, Type 2
Decreased serum leptin, Hyperinsulinemia, Reduced intraabdominal adipose tissue, Lipodystrophy, U... OMIM:269700
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Hypoglycemic seizures, Decreased plasma carnitine, Hyperammonemia, Hyperinsulinemic hypoglycemia,... ORPHA:71212
Ciliary Dyskinesia, Primary, 22
Bronchiectasis, Ciliary dyskinesia, Recurrent otitis media, Recurrent sinusitis, Absent inner and... OMIM:615444
9Q31.1Q31.3 Microdeletion Syndrome
Hypercholesterolemia, Overweight, Type II diabetes mellitus ORPHA:401923
Combined Oxidative Phosphorylation Deficiency 51
Neonatal respiratory distress, Aspiration pneumonia, Respiratory failure, Small for gestational age OMIM:619057
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypercholesterolemia, Hypoalbuminemia OMIM:607250
Laryngeal Abductor Paralysis-Intellectual Disability Syndrome
Neonatal asphyxia, Congenital laryngeal stridor, Bronchiectasis ORPHA:2375
Ciliary Dyskinesia, Primary, 17
Bronchiectasis, Ciliary dyskinesia, Cough, Chronic rhinitis, Chronic sinusitis, Abnormal respirat... OMIM:614679
Pigmented Nodular Adrenocortical Disease, Primary, 4
Increased circulating cortisol level, Primary hypercortisolism, Increased body weight, Dorsocervi... OMIM:615830
Alstrom Syndrome
Hyperinsulinemia, Multinodular goiter, Hypergonadotropic hypogonadism, Hypothyroidism, Hyperurice... OMIM:203800
Congenital Disorder Of Glycosylation, Type Iio
Elevated circulating creatine kinase concentration, Hypercholesterolemia, Decreased circulating c... OMIM:616828
Ciliary Dyskinesia, Primary, 14
Recurrent pneumonia, Wheezing, Abnormal ciliary motility, Bronchiectasis, Ciliary dyskinesia, Abs... OMIM:613807
Ciliary Dyskinesia, Primary, 19
Bronchiectasis, Ciliary dyskinesia, Recurrent otitis media, Recurrent sinusitis, Absent inner and... OMIM:614935
Isolated Agammaglobulinemia
Skin rash, Pneumonia, Recurrent respiratory infections, Inflammatory abnormality of the eye, Recu... ORPHA:229717
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Hypertriglyceridemia, Primary gonadal insufficiency, Insulin-resistant diabetes mellitus ORPHA:436182
Aspergillosis
Pleuritis, Bronchiectasis, Cough, Pneumonia, Abnormal tracheobronchial morphology, Sinusitis, Ost... ORPHA:1163
Bangstad Syndrome
Increased circulating cortisol level, Hyperinsulinemia, Hypothyroidism, Abnormality of the parath... ORPHA:1227
Dysbetalipoproteinemia
Hypercholesterolemia, Xanthelasma, Hypothyroidism, Hypertriglyceridemia, Decreased HDL cholestero... ORPHA:412
Hypertriglyceridemia 1
Hypertriglyceridemia, Increased VLDL cholesterol concentration, Glucose intolerance, Hypopituitarism OMIM:145750
Hyperlipoproteinemia, Type Iv
Hypertriglyceridemia, Increased VLDL cholesterol concentration, Glucose intolerance, Hypopituitarism OMIM:144600
Severe Acute Respiratory Syndrome
Dyspnea, Respiratory distress, Cough, Respiratory failure requiring assisted ventilation, Acute i... ORPHA:140896
Immunodeficiency, Common Variable, 1
Recurrent bronchitis, Bronchiectasis, Recurrent otitis media, Recurrent sinusitis, Pneumonia, Con... OMIM:607594
Congenital Disorder Of Glycosylation, Type Ib
Hyperinsulinemic hypoglycemia, Hypoalbuminemia, Failure to thrive OMIM:602579
Scedosporiosis
Pleuritis, Pericarditis, Endocarditis, Pulmonary fibrosis, Decreased pulmonary function, Cough, B... ORPHA:449280
Surfactant Metabolism Dysfunction, Pulmonary, 3
Reticular pattern on pulmonary HRCT, Exertional dyspnea, Cough, Bronchial wall thickening, Parase... OMIM:610921
Rigid Spine Syndrome
Abnormality on pulmonary function testing, Pneumonia, Respiratory insufficiency ORPHA:97244
Cholesteryl Ester Storage Disease
Hypercholesterolemia, Adrenal calcification, Hypertriglyceridemia ORPHA:75234
Immunodeficiency, Common Variable, 12, With Autoimmunity
Chronic pulmonary obstruction, Bronchiectasis, Recurrent sinusitis, Chronic atrophic gastritis, R... OMIM:616576
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypercholesterolemia, Hypoalbuminemia ORPHA:94124
Maturity-Onset Diabetes Of The Young, Type 10
Maturity-onset diabetes of the young, Diabetes mellitus, Hyperglycemia, Diabetic ketoacidosis OMIM:613370
Combined Immunodeficiency Due To Dock8 Deficiency
Atopic dermatitis, Recurrent bacterial skin infections, Chronic otitis media, Recurrent sinusitis... ORPHA:217390
Pulmonary Non-Tuberculous Mycobacterial Infection
Pulmonary opacity, Abnormal sputum, Dyspnea, Respiratory distress, Bronchiectasis, Chronic pulmon... ORPHA:411703
Stiff Skin Syndrome
Lipoatrophy, Abnormal circulating lipid concentration, Type II diabetes mellitus ORPHA:2833
Cd8 Deficiency, Familial
Recurrent respiratory infections, Bronchiectasis OMIM:608957
Smith-Magenis Syndrome
Hypercholesterolemia, Abnormality of the thyroid gland, Hypertriglyceridemia, Increased body weight OMIM:182290
Ciliary Dyskinesia, Primary, 38
Bronchiectasis, Cough, Chronic otitis media, Absent inner and outer dynein arms, Neonatal respira... OMIM:618063
Multiple Endocrine Neoplasia Type 4
Hyperinsulinemic hypoglycemia, Elevated circulating growth hormone concentration, Increased circu... ORPHA:276152
Hyperlipidemia, Familial Combined, 3
Hypercholesterolemia, Xanthelasma, Increased VLDL cholesterol concentration, Elevated circulating... OMIM:144250
Estrogen Resistance Syndrome
Increased circulating gonadotropin level, Glucose intolerance, Hyperinsulinemia, Absence of secon... ORPHA:785
Caspase 8 Deficiency
Pneumonia, Recurrent sinopulmonary infections, Asthma, Failure to thrive, Eczema OMIM:607271
Immunodeficiency 57 With Autoinflammation
Inflammation of the large intestine, Skin rash, Bronchiectasis, Chronic lung disease, Perianal ab... OMIM:618108
Panbronchiolitis, Diffuse
Wheezing, Bronchiectasis, Cough, Crackles, Hypoxemia, Rhonchi OMIM:604809
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Otitis media, Pneumonia, Failure to thrive, Recurrent upper respiratory tract infections OMIM:602450
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Dyspnea, Cough, Respiratory failure requiring assisted ventilation, Respiratory failure, Aspirati... ORPHA:90117
Diabetes Mellitus, Transient Neonatal, 1
Transient neonatal diabetes mellitus, Severe failure to thrive, Hyperglycemia OMIM:601410
Isolated Thyroid-Stimulating Hormone Deficiency
Hypercholesterolemia, Goiter, Increased pituitary glycoprotein hormone alpha subunit level, Decre... ORPHA:90674
Infantile Osteopetrosis With Neuroaxonal Dysplasia
Pneumonia ORPHA:85179
Staphylococcal Necrotizing Pneumonia
Abnormal sputum, Tachypnea, Respiratory distress, Dyspnea, Parenchymal consolidation, Pleural eff... ORPHA:36238
Hyperostosis Frontalis Interna
Diabetes mellitus, Increased circulating prolactin concentration, Obesity OMIM:144800
Sarcoidosis, Susceptibility To, 2
Restrictive ventilatory defect, Dyspnea, Bronchiectasis, Pulmonary fibrosis, Pleural effusion, Em... OMIM:612387
Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive
Atopic dermatitis, Bronchiectasis, Recurrent otitis media, Chronic mucocutaneous candidiasis, Ecz... OMIM:618282
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Hypoglycemic seizures, Adrenal hypoplasia, Hyperbilirubinemia, Decreased response to growth hormo... OMIM:609734
Severe Combined Immunodeficiency, X-Linked
Skin rash, Chronic oral candidiasis, Pneumonia, Failure to thrive, Recurrent pneumonia OMIM:300400
Short Stature, Microcephaly, And Endocrine Dysfunction
Insulin resistance, Hypothyroidism, Abnormal circulating lipid concentration, Truncal obesity, In... OMIM:616541
Maturity-Onset Diabetes Of The Young, Type 3
Maturity-onset diabetes of the young, Hyperglycemia, Type II diabetes mellitus OMIM:600496
Leprechaunism
Fasting hypoglycemia, Hyperinsulinemia, Recurrent infantile hypoglycemia, Insulin resistance, Pos... ORPHA:508
Acute Lung Injury
Dyspnea, Respiratory distress, Pneumonia, Acute pancreatitis, Abnormal pulmonary interstitial mor... ORPHA:178320
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased urinary cortisol level, Decreased circulating ACTH level, Increased circulating cortiso... OMIM:615954
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency
Pulmonary opacity, Intraalveolar phospholipid accumulation, Interstitial pneumonitis, Abnormal pu... ORPHA:217563
Seckel Syndrome 10
Elevated circulating luteinizing hormone level, Glucose intolerance, Insulin resistance, Elevated... OMIM:617253
Tularemia
Abnormal nasopharyngeal adenoid morphology, Skin rash, Cutaneous abscess, Respiratory distress, P... ORPHA:3392
Diabetes Mellitus, Permanent Neonatal, 4
Elevated hemoglobin A1c, Reduced C-peptide level, Type I diabetes mellitus, Small for gestational... OMIM:618858
Immunodeficiency 13
Bronchiectasis, Recurrent upper respiratory tract infections, Recurrent otitis media, Recurrent s... OMIM:615518
Complement Factor B Deficiency
Peritonitis, Pneumonia OMIM:615561
Aromatase Deficiency
Insulin resistance, Hypergonadotropic hypogonadism, Tall stature, Type II diabetes mellitus, Eunu... ORPHA:91
Ciliary Dyskinesia, Primary, 2
Respiratory distress, Bronchiectasis, Ciliary dyskinesia, Nasal polyposis, Absent inner and outer... OMIM:606763
Subaortic Stenosis-Short Stature Syndrome
Inguinal hernia, Abnormal circulating lipid concentration, Type II diabetes mellitus, Obesity ORPHA:3191
Hypothyroidism, Congenital, Nongoitrous, 6
Increased T3/T4 ratio, Omphalocele, Impaired sensitivity to thyroid hormone, Congenital hypothyro... OMIM:614450
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Fasting hypoglycemia, Hypercholesterolemia, Hypoglycemia, Hypertriglyceridemia, Delayed puberty, ... ORPHA:264580
Ciliary Dyskinesia, Primary, 1
Chronic sinusitis, Bronchiectasis, Ciliary dyskinesia, Nasal polyposis, Chronic otitis media, Pne... OMIM:244400
Citrullinemia Type Ii
Hypercholesterolemia, Decreased body mass index, Hypoproteinemia, Acute hyperammonemia, Hypertrig... ORPHA:247585
Adrenocortical Carcinoma
Abnormal circulating dehydroepiandrosterone concentration, Paradoxical increased cortisol secreti... ORPHA:1501
Diabetes Mellitus, Permanent Neonatal, 1
Elevated hemoglobin A1c, Reduced C-peptide level, Type I diabetes mellitus, Small for gestational... OMIM:606176
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Short nose, Bronchiectasis, Pneumonia, Failure to thrive, Sinusitis, Anteverted nares, Chronic br... OMIM:242860
Abdominal Obesity-Metabolic Syndrome 4
Elevated hemoglobin A1c, Hypertriglyceridemia, Type II diabetes mellitus, Decreased HDL cholester... OMIM:618620
T-Cell Immunodeficiency With Thymic Aplasia
Bronchiectasis, Eczematoid dermatitis, Emphysema, Pyoderma, Recurrent bronchopulmonary infections... OMIM:242700
Immunodeficiency 75
Recurrent respiratory infections, Bronchiectasis OMIM:619126
Infant Acute Respiratory Distress Syndrome
Respiratory tract infection, Pneumonia, Atelectasis, Respiratory failure, Nasal flaring, Pulmonar... ORPHA:70587
Lysosomal Acid Lipase Deficiency
Hypercholesterolemia, Steatorrhea, Adrenal insufficiency, Hypertriglyceridemia, Failure to thrive... OMIM:278000
Immunodeficiency 27A
Increased inflammatory response, Salmonella osteomyelitis, Pneumonia, Weight loss, Abnormal bronc... OMIM:209950
Werner Syndrome
Slender build, Insulin resistance, Chondrocalcinosis, Lipodystrophy, Lipoatrophy, Thyroid carcino... ORPHA:902
Cleft Velum
Recurrent otitis media, Aspiration pneumonia ORPHA:99772
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypercholesterolemia, Abnormal circulating alanine concentration, Hypertyrosinemia, Hyperthreonin... ORPHA:247598
Congenital Disorder Of Glycosylation, Type Iic
Bulbous nose, Bronchiolitis, Periodontitis, Recurrent otitis media, Pneumonia OMIM:266265
Simpson-Golabi-Behmel Syndrome, Type 2
Short nose, Recurrent upper respiratory tract infections, Pneumonia, Anteverted nares, Wide nose,... OMIM:300209
Maternally-Inherited Diabetes And Deafness
Abnormal circulating lipid concentration, Type II diabetes mellitus ORPHA:225
Immunodeficiency 52
Chronic lung disease, Bronchiectasis, Failure to thrive, Recurrent pneumonia OMIM:617514
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Hypergonadotropic hypogonadism, Hyperglycemia, Male hypogonadism, Glucose intolerance OMIM:307500
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Fasting hypoglycemia, Hypercholesterolemia, Hypertriglyceridemia, Delayed puberty, Failure to thr... ORPHA:370
Kennedy Disease
Testicular atrophy, Abnormal circulating lipid concentration, Type II diabetes mellitus ORPHA:481
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Elevated circulating growth hormone concentration, Insulin-resistant diabetes mellitus, Insulin r... ORPHA:90301
Adiposis Dolorosa
Painful subcutaneous lipomas, Obesity OMIM:103200
X-Linked Acrogigantism
Abnormal oral glucose tolerance, Increased serum insulin-like growth factor 1, Abnormality of the... ORPHA:300373
Autosomal Agammaglobulinemia
Skin rash, Bronchiectasis, Cough, Chronic otitis media, Recurrent respiratory infections, Conjunc... ORPHA:33110
Mandibuloacral Dysplasia With Type A Lipodystrophy
Flexion contracture, Hyperlipidemia, Insulin resistance ORPHA:90153
Dopamine Beta-Hydroxylase Deficiency
Increased blood urea nitrogen, Hyperinsulinemia, Insulin resistance, Elevated circulating creatin... ORPHA:230
Acquired Aneurysmal Subarachnoid Hemorrhage
Hypothyroidism, Hyperglycemia, Hypercholesterolemia, Hypopituitarism ORPHA:90065
Hepatic Lipase Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration OMIM:614025
Immunodeficiency, Common Variable, 8, With Autoimmunity
Inflammation of the large intestine, Bronchiectasis, Thyroiditis, Recurrent otitis media, Recurre... OMIM:614700
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Failure to thrive secondary to recurrent infections, Chronic oral candidiasis, Erythroderma, Pneu... ORPHA:169160
Silver-Russell Syndrome
Insulin resistance, Premature adrenarche, Failure to thrive in infancy, Cachexia, Recurrent hypog... ORPHA:813
Fusariosis
Peritonitis, Pulmonary opacity, Bronchiectasis, Pneumonia, Maculopapular exanthema, Sinusitis, My... ORPHA:228119
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Hypercholesterolemia, Hypoalbuminemia OMIM:208920
Smith-Magenis Syndrome
Hypercholesterolemia, Hypothyroidism, Failure to thrive in infancy, Hypertriglyceridemia, Delayed... ORPHA:819
Type 1 Diabetes Mellitus
Hyperglycemia, Diabetes mellitus, Decreased level of 1,5 anhydroglucitol in serum OMIM:222100
Adult Acute Respiratory Distress Syndrome
Dyspnea, Pneumonia, Respiratory failure, Abnormal blood gas level, Pancreatitis, Pulmonary edema,... ORPHA:70578
Meconium Aspiration Syndrome
Wheezing, Respiratory distress, Atelectasis, Pneumothorax, Neonatal asphyxia, Aspiration pneumoni... ORPHA:70588
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypercholesterolemia, Hypoalbuminemia, Hypertriglyceridemia, Abnormal circulating lipid concentra... ORPHA:567548
Placental Insufficiency
Small for gestational age, Insulin resistance ORPHA:439167
Short Syndrome
Glucose intolerance, Lipodystrophy, Lipoatrophy, Insulin-resistant diabetes mellitus, Inguinal he... OMIM:269880
Mehmo Syndrome
Diabetes mellitus, Obesity ORPHA:85282
Melioidosis
Lung abscess, Prostatitis, Respiratory tract infection, Cutaneous abscess, Acute infectious pneum... ORPHA:31202
Marbach-Rustad Progeroid Syndrome
Reduced subcutaneous adipose tissue, Insulin resistance OMIM:619322
Cog4-Cdg
Hypercholesterolemia, Failure to thrive in infancy ORPHA:263501
Gitelman Syndrome
Hypocalcemia, Hypomagnesemia, Maternal diabetes, Graves disease, Glucose intolerance, Hypermagnes... ORPHA:358
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome
Overweight, Hypothyroidism, Flexion contracture, Decreased serum iron, Failure to thrive, Diabete... ORPHA:391372
Avian Influenza
Ground-glass opacification, Myelitis, Respiratory distress, Dyspnea, Pleural effusion, Cough, Non... ORPHA:454836
Bronchogenic Cyst
Abnormal sputum, Dyspnea, Abnormal pleura morphology, Cough, Pneumonia, Pulmonary cyst, Bronchoge... ORPHA:2357
Central Precocious Puberty
Increased circulating gonadotropin level, Overgrowth, Isosexual precocious puberty, Increased bod... ORPHA:759
Acute Interstitial Pneumonia
Subpleural honeycombing, Ground-glass opacification, Dyspnea, Interlobular septal thickening, Bro... ORPHA:79126
Oculopharyngodistal Myopathy
Restrictive ventilatory defect, Weight loss, Bowing of the vocal cords, Respiratory insufficiency... ORPHA:98897
Lmna-Related Cardiocutaneous Progeria Syndrome
Pulmonary carcinoid tumor, Hypercholesterolemia, Lipoatrophy, Hypertriglyceridemia ORPHA:363618
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Increased LDL cholesterol concentration, Obesity ORPHA:209902
Common Variable Immunodeficiency
Recurrent bronchitis, Restrictive ventilatory defect, Bronchiectasis, Emphysema, Chronic otitis m... ORPHA:1572
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Lipodystrophy, Achilles tendon contracture, Hypertriglyceridemia, Decreased cervical spine flexio... ORPHA:98855
Atypical Werner Syndrome
Hyperinsulinemia, Fasting hyperinsulinemia, Chondrocalcinosis, Abnormality of circulating leptin ... ORPHA:79474
Temple Syndrome
Decreased response to growth hormone stimuation test, Small for gestational age, Type II diabetes... ORPHA:254516
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Ketotic hypoglycemia, Postprandial hyperglycemia, Glycosuria, Failure to thrive, Hyperlipidemia ORPHA:2089
Short Fifth Metacarpals-Insulin Resistance Syndrome
Hyperinsulinemia ORPHA:66518
Whipple Disease
Hypothyroidism, Hyponatremia, Cachexia, Insulin resistance ORPHA:3452
Immunodeficiency 58
Esophagitis, Seborrheic dermatitis, Cutaneous abscess, Allergic rhinitis, Chronic pulmonary obstr... OMIM:618131
Bardet-Biedl Syndrome 2
Hypogonadism, Diabetes mellitus, Obesity OMIM:615981
Monosomy 13Q34
Obesity, Infantile hypercalcemia, Insulin resistance ORPHA:96168
Ataxia With Vitamin 3 Deficiency
Xanthelasma, Hypercholesterolemia, Hypertriglyceridemia, Increased LDL cholesterol concentration OMIM:277460
Woodhouse-Sakati Syndrome
Hyperinsulinemia, Hypothyroidism, Streak ovary, Insulin-resistant diabetes mellitus, Delayed pube... ORPHA:3464
Immunodeficiency With Hyper-Igm, Type 4
Osteomyelitis, Bronchiectasis, Recurrent upper respiratory tract infections OMIM:608184
Immunodeficiency 14A, Autosomal Dominant
Recurrent respiratory infections, Bronchiectasis, Recurrent sinopulmonary infections OMIM:615513
Drug Rash With Eosinophilia And Systemic Symptoms
Skin rash, Pustule, Dyspnea, Interstitial pneumonitis, Thyroiditis, Cough, Erythroderma, Weight l... ORPHA:139402
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Congenital hypothyroidism, Hypoalbuminemia, Obesity ORPHA:88643
Nephrotic Syndrome, Type 11
Hypercholesterolemia, Hypoalbuminemia OMIM:616730
Slc35A1-Cdg
Pulmonary hemorrhage, Hypoxemia, Respiratory distress, Pneumonia ORPHA:238459
Immunodeficiency 65, Susceptibility To Viral Infections
Stomatitis, Bronchiectasis OMIM:618648
Abdominal Obesity-Metabolic Syndrome 3
Hypercholesterolemia, Truncal obesity, Abdominal obesity OMIM:615812
Immunodeficiency 77
Cutaneous abscess, Chronic pulmonary obstruction, Bronchiectasis OMIM:619223
Leptin Receptor Deficiency
Hypergonadotropic hypogonadism, Pituitary hypothyroidism, Decreased response to growth hormone st... OMIM:614963
X-Linked Emery-Dreifuss Muscular Dystrophy
Lipodystrophy, Achilles tendon contracture, Hypertriglyceridemia, Decreased cervical spine flexio... ORPHA:98863
Emery-Dreifuss Muscular Dystrophy
Lipodystrophy, Achilles tendon contracture, Hypertriglyceridemia, Decreased cervical spine flexio... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Lipodystrophy, Achilles tendon contracture, Hypertriglyceridemia, Decreased cervical spine flexio... ORPHA:98853
Prader-Willi Syndrome
Hyperinsulinemia, Decreased response to growth hormone stimuation test, Failure to thrive in infa... OMIM:176270
Microsporidiosis
Peritonitis, Bronchiolitis, Thyroiditis, Pneumonia, Weight loss, Sinusitis, Myocarditis, Myositis... ORPHA:2552
Combined Immunodeficiency Due To Zap70 Deficiency
Skin rash, Chronic oral candidiasis, Recurrent upper and lower respiratory tract infections, Lymp... ORPHA:911
Bloom Syndrome
Insulin resistance, Adipose tissue loss, Small for gestational age, Abdominal obesity, Diabetes m... ORPHA:125
Immunodeficiency, Common Variable, 2
Recurrent bronchitis, Bronchiectasis, Recurrent otitis media, Recurrent sinusitis, Conjunctivitis... OMIM:240500
Macrosomia Adiposa Congenita
Large for gestational age, Adrenocortical adenoma, Eosinophilia, Obesity OMIM:248100
Agammaglobulinemia, X-Linked
Prostatitis, Epididymitis, Pyoderma, Pneumonia, Septic arthritis, Enteroviral hepatitis, Conjunct... OMIM:300755
Proprotein Convertase 1/3 Deficiency
Hypogonadotropic hypogonadism, Decreased circulating cortisol level, Reactive hypoglycemia, Obesity OMIM:600955
Ciliary Dyskinesia, Primary, 37
Wheezing, Chronic rhinitis, Bronchiectasis, Rhinorrhea OMIM:617577
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Elevated circulating creatine kinase concentration, Hypercholesterolemia, Hypoalbuminemia, Elevat... ORPHA:64753
Nocardiosis
Peritonitis, Cutaneous abscess, Pleuritis, Pericarditis, Thyroiditis, Pneumonia, Weight loss, Ost... ORPHA:31204
Pancreatic And Cerebellar Agenesis
Hypoglycemia, Failure to thrive, Reduced subcutaneous adipose tissue, Hyperglycemia, Diabetes mel... OMIM:609069
Pseudohypoparathyroidism, Type Ib
Hypocalcemia, Pseudohypoparathyroidism, Elevated circulating parathyroid hormone level, Hyperphos... OMIM:603233
Bronchial Neuroendocrine Tumor
Wheezing, Dyspnea, Bronchospasm, Nonproductive cough, Pneumonia, Weight loss, Abnormal pulmonary ... ORPHA:97287
Yellow Nail Syndrome
Pleuritis, Dyspnea, Bronchiectasis, Cough, Rhinitis, Neoplasm of the lung, Sinusitis, Pulmonary a... ORPHA:662
Hypercholesterolemia, Familial, 3
Abnormal LDL cholesterol concentration, Hypercholesterolemia, Xanthelasma OMIM:603776
Lymphoid Interstitial Pneumonia
Lymphocytic interstitial pneumonia OMIM:247610
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia
Hypogonadotropic hypogonadism, Diabetes mellitus, Obesity OMIM:610628
Gaucher Disease, Type Ii
Apnea, Recurrent aspiration pneumonia, Failure to thrive OMIM:230900
Solitary Fibrous Tumor/Hemangiopericytoma
Hypophosphatemic rickets, Weight loss, Hypoglycemia, Hypoinsulinemia, Reduced C-peptide level, Re... ORPHA:2126
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Prostatitis, Epididymitis, Recurrent otitis media, Pyoderma, Pneumonia, Septic arthritis, Enterov... OMIM:307200
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Recurrent lower respiratory tract infections, Recurrent otitis media, Bronchiectasis OMIM:619220
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Abnormality of the thyroid gland, Type II diabetes mellitus, Hypogonadism, Eunuchoid habitus, Obe... ORPHA:2234
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hypouricemia, Hypoglycemia, Glycosuria, Diabetes mellitus, Large for gestational age OMIM:616026
Megalocornea-Mental Retardation Syndrome
Hypercholesterolemia, Primary hypothyroidism OMIM:249310
Graft Versus Host Disease
Acute hepatitis, Gastrointestinal inflammation, Inflammatory abnormality of the skin, Maculopapul... ORPHA:39812
Leptin Deficiency Or Dysfunction
Hypogonadism, Decreased serum leptin, Obesity OMIM:614962
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome
Delayed puberty, Multiple joint contractures, Overweight, Mildly elevated creatine kinase ORPHA:486815
Hepatic Veno-Occlusive Disease
Increased total bilirubin, Increased body weight ORPHA:890
Megalocornea-Intellectual Disability Syndrome
Hypothyroidism, Hypercholesterolemia ORPHA:2479
Hyper-Ige Recurrent Infection Syndrome 4, Autosomal Recessive
Bronchiectasis, Recurrent otitis media, Keratitis, Eczema, Recurrent respiratory infections OMIM:618523
Lysinuric Protein Intolerance
Increased circulating ferritin concentration, Hypercholesterolemia, Hyperglutaminemia, Intraalveo... ORPHA:470
Primary Ciliary Dyskinesia
Abnormal sputum, Anomalous pulmonary venous return, Wheezing, Respiratory tract infection, Bronch... ORPHA:244
Orofaciodigital Syndrome Viii
Recurrent aspiration pneumonia, Hypoplasia of the epiglottis, Broad nasal tip OMIM:300484
Diabetes Mellitus, Transient Neonatal, 3
Transient neonatal diabetes mellitus, Elevated hemoglobin A1c, Hyperglycemia, Maternal diabetes OMIM:610582
Hypercholesterolemia, Familial, 2
Hypercholesterolemia, Increased LDL cholesterol concentration, Xanthelasma OMIM:144010
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Recurrent upper respiratory tract infections, Recurrent otitis media, Pneumonia, Failure to thriv... OMIM:600802
Riddle Syndrome
Recurrent pneumonia, Restrictive ventilatory defect, Pulmonary fibrosis, Recurrent sinusitis, Pne... ORPHA:420741
Immunodeficiency 60
Bronchiectasis, Pulmonary fibrosis, Ulcerative colitis, Colitis, Recurrent sinopulmonary infectio... OMIM:618394
Pseudohypoparathyroidism, Type Ic
Enamel hypoplasia, Pseudohypoparathyroidism, Hypothyroidism, Hypocalcemic tetany, Elevated circul... OMIM:612462
Apolipoprotein C-Ii Deficiency
Increased circulating chylomicron concentration, Hypercholesterolemia, Decreased circulating apol... OMIM:207750
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hypoglycemic seizures, Xanthelasma, Hypercholesterolemia, Thyroiditis, Hypothyroidism, Hyperurice... ORPHA:79259
Omenn Syndrome
Erythroderma, Pneumonia, Failure to thrive OMIM:603554
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
Fasting hypoglycemia, Insulin resistance, Premature adrenarche, Small for gestational age, Failur... ORPHA:96182
Geleophysic Dysplasia 3
Sleep apnea, Dyspnea, Bulbous nose, Subglottic stenosis, Pneumonia, Wide nasal bridge, Respirator... OMIM:617809
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Respiratory distress, Interstitial pneumonitis, Eczematoid dermatitis, Thyroiditis, Recurrent res... ORPHA:37042
Whim Syndrome 1
Bronchiectasis, Recurrent upper respiratory tract infections OMIM:193670
Immunodeficiency 43
Recurrent respiratory infections, Bronchiectasis OMIM:241600
Whim Syndrome
Severe periodontitis, Recurrent pneumonia, Respiratory tract infection, Bronchiectasis, Recurrent... ORPHA:51636
Sitosterolemia 1
Hypercholesterolemia, Hyperapobetalipoproteinemia, Elevated circulating sitosterol concentration OMIM:210250
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Restrictive ventilatory defect, Pneumonia OMIM:253700
Autosomal Dominant Severe Congenital Neutropenia
Periodontitis, Pneumonia, Recurrent sinopulmonary infections, Rhinitis, Recurrent aphthous stomat... ORPHA:486
Timothy Syndrome
Bronchitis, Pneumonia, Depressed nasal bridge OMIM:601005
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Recurrent aspiration pneumonia, Respiratory failure, Respiratory insufficiency due to muscle weak... ORPHA:2590
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Skin rash, Chronic oral candidiasis, Recurrent bacterial skin infections, Cough, Pneumonia, Recur... ORPHA:276
Polyendocrine-Polyneuropathy Syndrome
Decreased circulating follicle stimulating hormone concentration, Central hypothyroidism, Decreas... ORPHA:453533
Bacterial Toxic-Shock Syndrome
Peritonitis, Skin rash, Respiratory tract infection, Tachypnea, Respiratory distress, Pneumonia, ... ORPHA:36234
Galloway-Mowat Syndrome 7
Hypercholesterolemia OMIM:618348
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency
Lymphadenitis, Salmonella osteomyelitis, Pneumonia ORPHA:319552
Idiopathic Neonatal Atrial Flutter
Large for gestational age, Maternal diabetes ORPHA:45452
Pseudohypoparathyroidism, Type Ia
Enamel hypoplasia, Pseudohypoparathyroidism, Hypothyroidism, Hypocalcemic tetany, Elevated circul... OMIM:103580
Diabetes Mellitus, Permanent Neonatal, 3
Hyperglycemia, Type I diabetes mellitus, Small for gestational age, Glycosuria OMIM:618857
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Chronic pulmonary obstruction, Bronchiectasis, Pulmonary fibrosis, Lymphadenitis, Recurrent otiti... OMIM:618986
Resistance To Thyrotropin-Releasing Hormone Syndrome
Overweight, Decreased circulating T4 level, Abnormal circulating thyroglobulin level, Pituitary h... ORPHA:99832
Purine Nucleoside Phosphorylase Deficiency
Recurrent upper respiratory tract infections, Pneumonia, Failure to thrive, Sinusitis, Recurrent ... OMIM:613179
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3
Pneumonia OMIM:608033
Lysosomal Acid Lipase Deficiency
Xanthelasma, Hypercholesterolemia, Primary adrenal insufficiency, Hyponatremia, Weight loss, Stea... ORPHA:275761
Pituitary Adenoma 4, Acth-Secreting
Glucose intolerance, Impaired glucose tolerance, Pituitary adenoma, Increased circulating ACTH le... OMIM:219090
Omenn Syndrome
Thyroiditis, Erythroderma, Pneumonia, Failure to thrive ORPHA:39041
Classic Pantothenate Kinase-Associated Neurodegeneration
Cough, Aspiration pneumonia, Weight loss ORPHA:216866
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Ulcerative colitis, Bronchiolitis, Interstitial pneumonitis OMIM:614878
Autoimmune Lymphoproliferative Syndrome, Type V
Bronchiectasis, Recurrent upper respiratory tract infections, Chronic atrophic gastritis, Eczema,... OMIM:616100
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency
Pancreatitis, Central sleep apnea, Aspiration pneumonia, Failure to thrive ORPHA:431361
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Chronic oral candidiasis, Recurrent aphthous stomatitis, Bronchiectasis, Recurrent pneumonia OMIM:150550
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Goiter, Decreased circulating T4 level, Elevated circulating thyroid-stimulating hormone concentr... ORPHA:226313
Chops Syndrome
Short nose, Laryngomalacia, Chronic lung disease, Aspiration pneumonia, Tracheal stenosis, Obesity OMIM:616368
Steinert Myotonic Dystrophy
Hypercholesterolemia, Male hypogonadism, Hyperinsulinemia, Insulin resistance, Hypergonadotropic ... ORPHA:273
Hyperlipoproteinemia, Type I
Increased circulating chylomicron concentration, Hypercholesterolemia, Lactescent serum, Hyperlip... OMIM:238600
Q Fever
Endocarditis, Pericarditis, Respiratory distress, Cholecystitis, Cough, Pleural effusion, Maculop... ORPHA:781
Roifman-Chitayat Syndrome
Arthritis, Pneumonia, Wide nasal bridge, Depressed nasal bridge OMIM:613328
Turner Syndrome Due To Structural X Chromosome Anomalies
Increased circulating gonadotropin level, Hyperinsulinemia, Glucose intolerance, Atypical scarrin... ORPHA:99413
Mosaic Monosomy X
Increased circulating gonadotropin level, Hyperinsulinemia, Glucose intolerance, Atypical scarrin... ORPHA:99228
Monosomy X
Increased circulating gonadotropin level, Hyperinsulinemia, Glucose intolerance, Atypical scarrin... ORPHA:99226
Turner Syndrome
Increased circulating gonadotropin level, Hyperinsulinemia, Glucose intolerance, Atypical scarrin... ORPHA:881
Selective Igm Deficiency
Cutaneous abscess, Bronchiectasis, Chronic sinusitis, Recurrent vulvovaginal candidiasis, Otitis ... ORPHA:331235
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hypocalcemia, Hypoproteinemia, Overweight, Hypoketotic hypoglycemia, Small for gestational age, I... ORPHA:26793
Bardet-Biedl Syndrome 9
Truncal obesity, Hyperglycemia, Obesity OMIM:615986
Oculocerebrorenal Syndrome Of Lowe
Hypophosphatemia, Hypercholesterolemia, Abnormal dental enamel morphology, Hypoammonemia, Abnorma... ORPHA:534
Hypothyroidism, Central, With Testicular Enlargement
Overweight, Hypothyroidism, Inappropriately normal thyroid-stimulating hormone level, Reduced TSH... OMIM:300888
Neonatal Alloimmune Neutropenia
Pneumonia ORPHA:464370
Brucellosis
Pericarditis, Pneumonia, Weight loss, Small for gestational age, Anterior uveitis, Myocarditis, O... ORPHA:1304
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Apnea, Hypoventilation, Respiratory distress, Short nose, Aspiration pneumonia, Recurrent pneumon... ORPHA:314655
Sheehan Syndrome
Gonadotropin deficiency, Panhypopituitarism, Adrenocorticotropin deficient adrenal insufficiency,... ORPHA:91355
Narcolepsy 7
Type II diabetes mellitus, Obesity OMIM:614250
Livedoid Vasculopathy
Graves disease, Atrophic scars, Abnormal circulating lipid concentration, Diabetes mellitus, Hype... ORPHA:542643
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Hypercholesterolemia, Hypertriglyceridemia OMIM:610644
Juvenile Neuronal Ceroid Lipofuscinosis
Apnea, Episodic tachypnea, Aspiration pneumonia ORPHA:79264
Magel2-Related Prader-Willi-Like Syndrome
Abdominal obesity, Premature pubarche, Flexion contracture, Central hypothyroidism, Hypothalamic ... ORPHA:398069
Mucoepithelial Dysplasia, Hereditary
Fibrocystic lung disease, Pneumonia, Rhinorrhea, Chronic mucocutaneous candidiasis, Recurrent pne... OMIM:158310
Thalidomide Embryopathy
Insulin resistance ORPHA:3312
Hutchinson-Gilford Progeria Syndrome
Decreased serum leptin, Insulin resistance, Pubertal developmental failure in females, Absence of... ORPHA:740
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Dyspnea, Abnormal respiratory system morphology, Tracheobronchial leiomyomatosis, Cough, Weight l... ORPHA:1018
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Recurrent upper respiratory tract infections, Interstitial pneumonitis, Desquamative interstitial... OMIM:615952
Congenital Multicore Myopathy With External Ophthalmoplegia
Recurrent respiratory infections, Respiratory failure, Pneumonia, Abnormal respiratory system phy... ORPHA:98905
Cystic Fibrosis
Recurrent pneumonia, Bronchiectasis, Nasal polyposis, Recurrent bronchopulmonary infections, Chro... OMIM:219700
Sporadic Creutzfeldt-Jakob Disease
Recurrent aspiration pneumonia, Respiratory failure requiring assisted ventilation ORPHA:204
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Recurrent bronchitis, Bronchiectasis, Recurrent upper respiratory tract infections, Recurrent oti... ORPHA:293978
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type
Increased body weight OMIM:300860
Tenorio Syndrome
Apnea, Pneumonia, Stomatitis, Keratoconjunctivitis sicca, Anteverted nares, Wide nose OMIM:616260
Hennekam-Beemer Syndrome
Pneumonia, Respiratory insufficiency, Wide nasal bridge, Failure to thrive, Long nose, Wide nose ORPHA:2135
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Panhypopituitarism, Decreased circulating ACTH level, Overweight, Decreased circulating follicle ... ORPHA:226307
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Premature pubarche, Premature adrenarche, Decreased circulating T4 level, Central hypothyroidism,... ORPHA:98754
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Premature pubarche, Premature adrenarche, Decreased circulating T4 level, Central hypothyroidism,... ORPHA:98793
Shigellosis
Peritonitis, Acute colitis, Uveitis, Pneumonia, Failure to thrive in infancy, Ulcerative colitis,... ORPHA:810
Pyruvate Dehydrogenase E1-Alpha Deficiency
Neonatal respiratory distress, Recurrent aspiration pneumonia, Small for gestational age ORPHA:79243
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Premature pubarche, Premature adrenarche, Decreased circulating T4 level, Central hypothyroidism,... ORPHA:177904
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Premature pubarche, Premature adrenarche, Decreased circulating T4 level, Central hypothyroidism,... ORPHA:177901
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked
Colitis, Bronchiectasis, Failure to thrive in infancy, Recurrent pneumonia OMIM:301220
Wiskott-Aldrich Syndrome, Autosomal Dominant
Inflammation of the large intestine, Recurrent upper respiratory tract infections, Pneumonia, Epi... OMIM:600903
Pgm3-Cdg
Recurrent pneumonia, Esophagitis, Cutaneous abscess, Allergic rhinitis, Atopic dermatitis, Bronch... ORPHA:443811
Good Syndrome
Dyspnea, Bronchiectasis, Cough, Sinusitis, Recurrent skin infections, Recurrent respiratory infec... ORPHA:169105
Coccidioidomycosis
Peritonitis, Skin rash, Folliculitis, Pericarditis, Respiratory distress, Parenchymal consolidati... ORPHA:228123
Lowe Oculocerebrorenal Syndrome
Enamel hypoplasia, Camptodactyly of finger, Hypercholesterolemia, Elevated amniotic fluid alpha-f... OMIM:309000
Gm1 Gangliosidosis
Weight loss, Aspiration pneumonia, Encephalitis, Failure to thrive, Broad nasal tip, Recurrent re... ORPHA:354
Prader-Willi-Like Syndrome
Abnormality of the endocrine system, Premature pubarche, Premature adrenarche, Decreased circulat... ORPHA:398073
Alagille Syndrome 1
Hypercholesterolemia, Papillary thyroid carcinoma, Hypertriglyceridemia, Failure to thrive OMIM:118450
Thyrotoxic Periodic Paralysis
Thyrotoxicosis with toxic multinodular goiter, Graves disease, Postprandial hyperglycemia, Thyrot... ORPHA:79102
Pmm2-Cdg
Elevated circulating growth hormone concentration, Hyperinsulinemia, Insulin resistance, Abnormal... ORPHA:79318
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Interstitial pneumonitis ORPHA:231154
Immunodeficiency 36
Recurrent respiratory infections, Bronchiectasis OMIM:616005
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Asthma, Pneumonia, Failure to thrive, Sinusitis OMIM:102700
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Omphalocele, Umbilical hernia, Overgrowth, Small for gestational age, Large for gestational age ORPHA:254534
Hereditary Bullous Dystrophy, Macular Type
Pneumonia ORPHA:1867
Zygomycosis
Peritonitis, Pericarditis, Cough, Sinusitis, Myocarditis, Air crescent sign, Endocarditis, Epista... ORPHA:73263
Sarcoidosis, Susceptibility To, 1
Inflammation of the large intestine, Restrictive ventilatory defect, Iridocyclitis, Dyspnea, Bron... OMIM:181000
Paternal Uniparental Disomy Of Chromosome 1
Abnormal dental enamel morphology, Increased blood urea nitrogen, Delayed puberty, Hypercalcemia,... ORPHA:251004
Spondyloenchondrodysplasia With Immune Dysregulation
Restrictive ventilatory defect, Rheumatoid arthritis, Recurrent otitis media, Recurrent sinusitis... OMIM:607944
Cryptococcosis
Peritonitis, Prostatitis, Dyspnea, Respiratory distress, Pleural effusion, Cough, Pneumonia, Nodu... ORPHA:1546
Combined Immunodeficiency Due To Crac Channel Dysfunction
Chronic otitis media, Pneumonia ORPHA:169090
Isolated Permanent Neonatal Diabetes Mellitus
Arthrogryposis multiplex congenita, Contractures of the joints of the lower limbs, Weight loss, G... ORPHA:99885
Pseudohypoparathyroidism Type 1C
Enamel hypoplasia, Hypocalcemia, Pseudohypoparathyroidism, Hypergonadotropic hypogonadism, Decrea... ORPHA:79444
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Hypogonadotropic hypogonadism, Absence of secondary sex characteristics, Hypothalamic gonadotropi... ORPHA:2235
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Pulmonary hemorrhage, Pulmonary fibrosis, Cough, Failure to thrive in infancy, Chronic mucocutane... ORPHA:79124
X-Linked Dystonia-Parkinsonism
Aspiration pneumonia, Laryngeal stridor ORPHA:53351
Alström Syndrome
Puberty and gonadal disorders, Hyperinsulinemia, Insulin resistance, Hypergonadotropic hypogonadi... ORPHA:64
Listeriosis
Peritonitis, Pustule, Endocarditis, Pericarditis, Respiratory distress, Pyelonephritis, Arteritis... ORPHA:533
Perrault Syndrome 4
Increased circulating gonadotropin level, Disproportionate tall stature, Decreased serum estradio... OMIM:615300
Acrodysostosis With Multiple Hormone Resistance
Hypocalcemia, Pseudohypoparathyroidism, Decreased response to growth hormone stimuation test, Con... ORPHA:280651
Marshall-Smith Syndrome
Apnea, Obstructive sleep apnea, Short nose, Choanal atresia, Decreased body weight, Laryngomalaci... OMIM:602535
Mercury Poisoning
Dyspnea, Respiratory failure, Respiratory distress, Interstitial pneumonitis ORPHA:330021
Orofaciodigital Syndrome Ix
Recurrent aspiration pneumonia, Hypoplasia of the epiglottis, Broad nasal tip OMIM:258865
Infantile Neuroaxonal Dystrophy
Apneic episodes in infancy, Aspiration pneumonia ORPHA:35069
Leukocyte Adhesion Deficiency
Peritonitis, Severe periodontitis, Osteomyelitis, Respiratory tract infection, Bronchiectasis, Ch... ORPHA:2968
Spondyloenchondrodysplasia
Skin rash, Pneumonia, Juvenile rheumatoid arthritis, Hepatitis, Arthritis ORPHA:1855
Proximal Spinal Muscular Atrophy
Restrictive ventilatory defect, Hypoventilation, Respiratory insufficiency due to muscle weakness... ORPHA:70
Alpha-Mannosidosis, Adult Form
Pneumonia ORPHA:309288
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Pulmonary embolism, Pneumonia OMIM:226300
Mohr-Tranebjaerg Syndrome
Aspiration pneumonia ORPHA:52368
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Pneumonia, Failure to thrive ORPHA:90790
Fanconi Anemia, Complementation Group F
Pneumonia, Failure to thrive OMIM:603467
Craniopharyngioma
Enlarged pituitary gland, Pituitary hypothyroidism, Central adrenal insufficiency, Hypopituitaris... ORPHA:54595
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Dentinogenesis imperfecta, Type I diabetes mellitus, Precocious puberty, Obesity OMIM:619269
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Gonadotropin deficiency, Premature adrenarche, Central hypothyroidism, Hyponatremia, Decreased re... ORPHA:293987
Congenital Fiber-Type Disproportion Myopathy
Hypercapnia, Weight loss, Respiratory insufficiency due to muscle weakness, Intercostal muscle we... ORPHA:2020
Igg4-Related Kidney Disease
Prostatitis, Abnormal lung morphology, Pleuritis, Pericarditis, Arteritis, Interstitial pneumonit... ORPHA:449395
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Skin rash, Pneumonia ORPHA:247691
Mirage Syndrome
Aspiration pneumonia, Decreased body weight OMIM:617053
Arnold-Chiari Malformation Type Ii
Apnea, Inspiratory stridor, Pneumonia ORPHA:1136
Severe Generalized Junctional Epidermolysis Bullosa
Gastrointestinal inflammation, Stridor, Respiratory distress, Dyspnea, Pyoderma, Pneumonia, Laryn... ORPHA:79404
Atrial Septal Defect, Ostium Secundum Type
Dyspnea, Exertional dyspnea, Increased pulmonary vascular resistance, Orthopnea, Pneumonia, Breat... ORPHA:99103
Wilson Disease
Failure to thrive, Increased body weight, Weight loss ORPHA:905
Atrial Septal Defect, Coronary Sinus Type
Anomalous pulmonary venous return, Dyspnea, Exertional dyspnea, Increased pulmonary vascular resi... ORPHA:99104
Shwachman-Diamond Syndrome
Skin rash, Pneumonia, Failure to thrive, Sinusitis, Eczema, Osteomyelitis ORPHA:811
Adult-Onset Still Disease
Abnormal circulating lipid concentration, Elevated circulating C-reactive protein concentration ORPHA:829
Infection-Related Hemolytic Uremic Syndrome
Acute colitis, Respiratory tract infection, Pleuritis, Dyspnea, Pneumonia, Septic arthritis, Pleu... ORPHA:544482
Lissencephaly Due To Lis1 Mutation
Aspiration pneumonia ORPHA:95232
Beckwith-Wiedemann Syndrome
Neonatal hypoglycemia, Pseudohypoparathyroidism, Hypothyroidism, Omphalocele, Umbilical hernia, H... ORPHA:116
Griscelli Syndrome
Abnormal circulating lipid concentration ORPHA:381
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Apnea, Chronic lung disease, Failure to thrive, Tachypnea, Recurrent aspiration pneumonia, Recurr... ORPHA:397715
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Aspiration pneumonia OMIM:619167
Amoebiasis Due To Free-Living Amoebae
Respiratory tract infection, Pustule, Pneumonia, Encephalitis, Sinusitis ORPHA:68
Combined Immunodeficiency With Faciooculoskeletal Anomalies
Chronic oral candidiasis, Wide nasal bridge, Arthritis, Neonatal respiratory distress, Broad nasa... ORPHA:221139
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Skin rash, Gastrointestinal inflammation, Inflammatory abnormality of the skin, Respiratory distr... ORPHA:95455
Pruritic Urticarial Papules And Plaques Of Pregnancy
Increased body weight ORPHA:64745
Miller-Dieker Lissencephaly Syndrome
Short nose, Wide nasal bridge, Failure to thrive, Recurrent aspiration pneumonia, Anteverted nares OMIM:247200
Mucopolysaccharidosis Type 3
Respiratory tract infection, Chronic otitis media, Recurrent sinopulmonary infections, Upper airw... ORPHA:581
Cornelia De Lange Syndrome 1
Choanal atresia, Pneumonia, Anteverted nar