Gene Summary

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

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Ikbke mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Ikbke by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Pulmonary Blastoma
Recurrent pneumonia, Weight loss, Pleuropulmonary blastoma ORPHA:64741
Immunodeficiency 51
Pneumonia, Folliculitis, Chronic mucocutaneous candidiasis, Eczematoid dermatitis, Cutaneous absc... OMIM:613953
Short Stature Due To Ghsr Deficiency
Hypoglycemia, Abnormality of body weight, Decreased body weight, Decreased serum insulin-like gro... ORPHA:314811
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Abnormal circulating insulin concentration, Large for gestational age, Hypoketotic hypoglycemia, ... ORPHA:293964
Short Stature Due To Partial Ghr Deficiency
Decreased serum insulin-like growth factor 1, Delayed puberty, Hypoglycemia ORPHA:314802
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemia, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia,... OMIM:610021
Immunodeficiency 53
Recurrent upper respiratory tract infections, Recurrent pneumonia, Failure to thrive, Recurrent u... OMIM:617585
Hyperinsulinemic Hypoglycemia, Familial, 2
Hypoglycemia, Large for gestational age, Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyp... OMIM:601820
Type 2 Diabetes Mellitus
Insulin resistance, Increased waist to hip ratio, Type II diabetes mellitus OMIM:125853
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Hypoglycemia, Large for gestational age, Obesity, Truncal obesity, Fasting hypoglycemia, Hypoinsu... OMIM:240900
Hyperinsulinism Due To Insr Deficiency
Insulin resistance, Hypoglycemia, Recurrent hypoglycemia, Fasting hyperinsulinemia, Hyperinsuline... ORPHA:263458
Idiopathic Achalasia
Recurrent aspiration pneumonia, Weight loss, Bronchitis ORPHA:930
Isolated Growth Hormone Deficiency, Type Ia
Decreased serum insulin-like growth factor 1, Hypoglycemia, Reduced circulating growth hormone co... OMIM:262400
Immunodeficiency 104
Pneumonia, Chronic mucocutaneous candidiasis, Eczematoid dermatitis, Failure to thrive secondary ... OMIM:608971
Young Syndrome
Bronchiectasis, Congenital pulmonary airway malformation, Recurrent sinopulmonary infections, Rec... OMIM:279000
Immunodeficiency 116
Recurrent bacterial infections, Recurrent respiratory infections, Recurrent viral infections, Bro... OMIM:608957
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Abnormal circulating insulin concentration, Elevated circulating thyroid-stimulating hormone conc... ORPHA:171706
Insulin Autoimmune Syndrome
Insulin resistance, Insulin-resistant diabetes mellitus, Reactive hypoglycemia, Weight loss, Nonk... ORPHA:411593
Maturity-Onset Diabetes Of The Young, Type 3
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young OMIM:600496
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Pneumonia, Failure to thrive, Failure to thrive secondary to recurrent infections, Otitis media, ... OMIM:601457
Congenital Glucokinase-Related Hyperinsulinism
Recurrent hypoglycemia, Fasting hyperinsulinemia, Hypoketotic hypoglycemia, Type II diabetes mell... ORPHA:79299
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency
Pneumonia, Recurrent mycobacterial infections, Recurrent Klebsiella infections, Lymphadenitis, Re... ORPHA:319552
Complement Factor B Deficiency
Pneumonia, Recurrent meningococcal disease, Peritonitis, Recurrent bacterial infections, Meningitis OMIM:615561
Mounier-Kühn Syndrome
Pneumonia, Recurrent respiratory infections, Bronchitis, Recurrent bronchopulmonary infections ORPHA:3347
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency
Hypoglycemia ORPHA:35701
Idiopathic Bronchiectasis
Emphysema, Respiratory tract infection, Recurrent Haemophilus influenzae infections, Cachexia, Ac... ORPHA:60033
Maturity-Onset Diabetes Of The Young, Type 10
Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young, Diabetic ketoacidosis OMIM:613370
Pituitary Hormone Deficiency, Combined, 4
Impaired growth-hormone response to insulin stimulation test, Adrenal insufficiency, Hypothyroidi... OMIM:262700
Ciliary Dyskinesia, Primary, 33
Recurrent pneumonia, Atelectasis, Recurrent otitis media, Recurrent bronchitis, Chronic rhinitis,... OMIM:616726
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
Pneumonia, Atopic dermatitis, Recurrent upper respiratory tract infections OMIM:618806
Bronchiectasis With Or Without Elevated Sweat Chloride 3
Bronchiectasis, Chronic bronchitis OMIM:613071
Immunodeficiency 48
Pneumonia, Pneumocystis carinii pneumonia, Eczematoid dermatitis, Failure to thrive, Recurrent ca... OMIM:269840
Ciliary Dyskinesia, Primary, 21
Recurrent pneumonia, Atelectasis, Recurrent otitis media, Chronic sinusitis, Bronchiectasis OMIM:615294
Hypoglycemia, Leucine-Induced
Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:240800
Akt2-Related Familial Partial Lipodystrophy
Decreased adiponectin level, Decreased serum leptin, Insulin-resistant diabetes mellitus, Insulin... ORPHA:79085
Glucocorticoid Deficiency 3
Recurrent hypoglycemia, Increased circulating ACTH level, Abnormal circulating renin, Decreased c... OMIM:609197
Tracheobronchomegaly
Recurrent bronchopulmonary infections, Bronchiectasis OMIM:275300
Isolated Congenital Hypoglossia/Aglossia
Weight loss, Aspiration pneumonia ORPHA:141152
Homozygous 11P15-P14 Deletion Syndrome
Hyperinsulinemia, Failure to thrive, Hypoglycemia OMIM:606528
Ciliary Dyskinesia, Primary, 41
Recurrent otitis media, Bronchiectasis, Recurrent sinusitis OMIM:618449
Glycogen Storage Disease 0, Liver
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia OMIM:240600
Ciliary Dyskinesia, Primary, 9
Pneumonia, Recurrent otitis media, Recurrent sinusitis, Chronic rhinitis, Chronic sinusitis, Chro... OMIM:612444
Activated Pi3K-Delta Syndrome
Pneumonia, Recurrent tonsillitis, Failure to thrive, Recurrent otitis media, Chronic sinusitis, S... ORPHA:397596
Ciliary Dyskinesia, Primary, 42
Pneumonia, Bronchiectasis, Recurrent sinusitis, Chronic rhinitis OMIM:618695
Ciliary Dyskinesia, Primary, 39
Recurrent otitis media, Recurrent lower respiratory tract infections, Bronchiectasis OMIM:618254
Immunodeficiency 11B With Atopic Dermatitis
Pneumonia, Atopic dermatitis, Ulcerative colitis, Disseminated molluscum contagiosum, Colonic eos... OMIM:617638
Ciliary Dyskinesia, Primary, 46
Recurrent otitis media, Recurrent pneumonia, Bronchiectasis, Recurrent sinusitis OMIM:619436
Immunodeficiency 56
Recurrent infections, Recurrent pneumonia, Pneumocystis jirovecii pneumonia, Failure to thrive, R... OMIM:615207
Body Mass Index Quantitative Trait Locus 19
Increased serum leptin, Hyperinsulinemia, Obesity, Insulin resistance OMIM:617885
Aids Wasting Syndrome
Cachexia, Weight loss ORPHA:90081
Pituitary Hormone Deficiency, Combined, 2
Abnormal circulating adrenocorticotropin concentration, Hypogonadism, Panhypopituitarism, Adrenal... OMIM:262600
Lipodystrophy, Familial Partial, Type 5
Decreased adiponectin level, Decreased serum leptin, Diabetic ketoacidosis OMIM:615238
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone
Hypoglycemia OMIM:223500
Combined Immunodeficiency, X-Linked
Pneumonia, Pneumocystis carinii pneumonia, Otitis media, Recurrent bronchitis, Sinusitis OMIM:312863
Ciliary Dyskinesia, Primary, 23
Recurrent pneumonia, Recurrent otitis media, Recurrent sinusitis, Chronic bronchitis, Chronic rhi... OMIM:615451
Ciliary Dyskinesia, Primary, 48, Without Situs Inversus
Recurrent otitis media, Recurrent pneumonia, Bronchiectasis, Recurrent sinusitis OMIM:620032
Combined Immunodeficiency Due To Dock8 Deficiency
Pneumonia, Atopic dermatitis, Chronic otitis media, Recurrent viral infections, Recurrent candida... ORPHA:217390
Immunodeficiency 65, Susceptibility To Viral Infections
Recurrent viral infections, Stomatitis, Bronchiectasis, Recurrent gastroenteritis OMIM:618648
Bronchiectasis With Or Without Elevated Sweat Chloride 2
Bronchiectasis, Recurrent bronchiolitis, Chronic bronchitis OMIM:613021
Fructose And Galactose Intolerance
Hypoglycemia OMIM:229500
Scedosporiosis
Pneumonia, Unusual CNS infection, Unusual skin infection, Sepsis, Bronchitis, Invasive fungal inf... ORPHA:449280
Ciliary Dyskinesia, Primary, 27
Recurrent respiratory infections, Recurrent otitis media, Chronic sinusitis, Recurrent sinusitis,... OMIM:615504
Hyperinsulinism Due To Hnf1A Deficiency
Maturity-onset diabetes of the young, Hyperinsulinemia, Excessive insulin response to glucagon te... ORPHA:324575
Ciliary Dyskinesia, Primary, 44
Bronchiectasis, Otitis media, Recurrent sinusitis OMIM:618781
Ciliary Dyskinesia, Primary, 3
Recurrent otitis media, Recurrent respiratory infections, Bronchiectasis, Recurrent sinusitis OMIM:608644
Severe Combined Immunodeficiency, X-Linked
Pneumonia, Recurrent pneumonia, Failure to thrive, Skin rash, Recurrent bacterial meningitis, Rec... OMIM:300400
Isolated Agammaglobulinemia
Pneumonia, Sepsis, Failure to thrive, Otitis media, Skin rash, Arthritis, Sinusitis, Inflammatory... ORPHA:229717
Proprotein Convertase 1/3 Deficiency
Elevated circulating proinsulin concentration, Obesity, Reactive hypoglycemia, Hypogonadotropic h... OMIM:600955
Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome
Failure to thrive, Aspiration pneumonia OMIM:609528
Ciliary Dyskinesia, Primary, 36, X-Linked
Recurrent respiratory infections, Bronchiectasis, Chronic otitis media, Recurrent sinusitis OMIM:300991
Hyperinsulinism-Hyperammonemia Syndrome
Reactive hypoglycemia, Hyperinsulinemic hypoglycemia, Fasting hyperinsulinemia ORPHA:35878
Reticular Dysgenesis
Sepsis, Failure to thrive, Skin rash, Weight loss, Recurrent respiratory infections, Chronic otit... ORPHA:33355
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Emphysema, Respiratory tract infection, Chronic bronchitis, Weight loss, Honeycomb lung, Hypersen... ORPHA:79127
Mantle Cell Lymphoma
Weight loss ORPHA:52416
Immunodeficiency 110 With Lymphoproliferation
Recurrent upper respiratory tract infections, Recurrent pneumonia, Recurrent viral infections, Ch... OMIM:614868
Pituitary Hormone Deficiency, Combined, 6
Ectopic posterior pituitary, Hypoglycemia, Decreased circulating ACTH concentration, Posterior pi... OMIM:613986
T-Cell Immunodeficiency With Thymic Aplasia
Meningitis, Chronic otitis media, Eczematoid dermatitis, Opportunistic infection, Recurrent candi... ORPHA:83471
Hyperinsulinemic Hypoglycemia, Familial, 8
Elevated circulating thyroid-stimulating hormone concentration, Hypoglycemia, Hyperinsulinemia, H... OMIM:620211
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Impaired gluconeogenesis, Hypoglycemia OMIM:261650
Immunodeficiency 75 With Lymphoproliferation
Recurrent respiratory infections, Bronchiectasis, Persistent EBV viremia OMIM:619126
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Pneumonia, Recurrent infections, Recurrent pneumonia, Hepatitis, Failure to thrive secondary to r... ORPHA:169160
Allergic Bronchopulmonary Aspergillosis
Emphysema, Weight loss, Bronchiectasis ORPHA:1164
Multicentric Reticulohistiocytosis
Cachexia, Arthritis ORPHA:139436
Bronchiolitis Obliterans
Pneumonia, Bronchiolitis obliterans, Bronchiectasis, Respiratory tract infection ORPHA:1303
Immunodeficiency, Common Variable, 12, With Autoimmunity
Atrophic gastritis, Recurrent pneumonia, Recurrent sinusitis, Recurrent sinopulmonary infections,... OMIM:616576
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Allergic rhinitis, Rheumatoid arthritis, Recurrent otitis media, Psoriasiform dermatitis, Recurre... ORPHA:183675
Facioscapulohumeral Muscular Dystrophy 3, Digenic
Aspiration pneumonia OMIM:619477
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Hyperinsulinemia, Hypoketotic hypoglycemia, Reactive hypoglycemia, Pancreatic islet-cell hyperpla... ORPHA:276608
Glucocorticoid Deficiency 1
Failure to thrive, Recurrent hypoglycemia, Abnormal circulating aldosterone, Increased circulatin... OMIM:202200
Pulmonary Non-Tuberculous Mycobacterial Infection
Mycobacterium abscessus abscessus infection, Disseminated nontuberculous mycobacterial infection,... ORPHA:411703
Neonatal Alloimmune Neutropenia
Pneumonia, Meningitis, Severe infection, Sepsis ORPHA:464370
Obesity Due To Congenital Leptin Deficiency
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte... ORPHA:66628
Immunodeficiency With Hyper-Igm, Type 4
Recurrent upper respiratory tract infections, Osteomyelitis, Recurrent infection of the gastroint... OMIM:608184
Immunodeficiency, Common Variable, 1
Pneumonia, Recurrent pneumonia, Recurrent otitis media, Recurrent bronchitis, Recurrent sinusitis... OMIM:607594
Caspase 8 Deficiency
Pneumonia, Eczematoid dermatitis, Failure to thrive, Recurrent sinopulmonary infections, Recurren... OMIM:607271
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Recurrent respiratory infections, Chronic otitis media, Bronchiectasis, Atelectasis OMIM:619466
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Persistent CMV viremia, Recurrent viral infections, Recurrent otitis media, Recurrent bronchitis,... OMIM:300853
Ciliary Dyskinesia, Primary, 45
Recurrent respiratory infections, Bronchiectasis, Chronic rhinitis OMIM:618801
Felty Syndrome
Recurrent infections, Recurrent pneumonia, Sepsis, Recurrent respiratory infections, Recurrent ur... ORPHA:47612
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Precocious puberty, Postprandial hyperglycemia, Insulin-resistant diabetes mellitus, Hypoglycemia... OMIM:262190
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Allergic rhinitis, Recurrent viral infections, Recurrent otitis media, Molluscum contagiosum, Eos... OMIM:243700
Ciliary Dyskinesia, Primary, 28
Recurrent otitis media, Recurrent sinusitis, Chronic bronchitis, Rhinitis, Recurrent respiratory ... OMIM:615505
Mhc Class I Deficiency 1
Bronchiolitis, Bronchiectasis, Emphysema, Recurrent bronchitis, Chronic sinusitis, Chronic otitis... OMIM:604571
Cidec-Related Familial Partial Lipodystrophy
Decreased adiponectin level, Decreased serum leptin, Insulin-resistant diabetes mellitus ORPHA:435651
Muscular Hypertonia, Lethal
Pneumonia OMIM:254120
Chronic Beryllium Disease
Reticulonodular pattern on pulmonary HRCT, Lymphocytic interstitial pneumonia, Weight loss, Pulmo... ORPHA:133
Immunodeficiency 32B
Pneumonia, Recurrent infections, Failure to thrive, BCGitis, Sinusitis, Recurrent respiratory inf... OMIM:226990
Lipe-Related Familial Partial Lipodystrophy
Decreased adiponectin level, Decreased serum leptin, Insulin-resistant diabetes mellitus, Insulin... ORPHA:435660
Obesity Due To Leptin Receptor Gene Deficiency
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte... ORPHA:179494
Progressive Nodular Histiocytosis
Cachexia ORPHA:158022
Immunodeficiency 77
Recurrent tonsillitis, Bronchiectasis, Cutaneous abscess, Nontuberculous mycobacterial pulmonary ... OMIM:619223
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Diffuse pancreatic islet hyperplasia, Increased circulating cortisol level, Recurrent hypoglycemi... ORPHA:79644
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Precocious puberty, Failure to thrive, Hypoglycemia, Abnormal circulating aldosterone, Increased ... OMIM:614736
Pfapa Syndrome
Recurrent pharyngitis, Weight loss, Arthritis, Infectious encephalitis ORPHA:42642
Retinal Dystrophy And Microvillus Inclusion Disease
Recurrent lower respiratory tract infections, Recurrent upper respiratory tract infections, Bronc... OMIM:619446
Ciliary Dyskinesia, Primary, 17
Recurrent otitis media, Chronic sinusitis, Chronic rhinitis, Recurrent respiratory infections, Br... OMIM:614679
Microlissencephaly
Pneumonia ORPHA:1083
Leptin Deficiency Or Dysfunction
Hypogonadism, Obesity, Decreased serum leptin OMIM:614962
Immunodeficiency 13
Recurrent upper respiratory tract infections, Recurrent pneumonia, Recurrent otitis media, Recurr... OMIM:615518
Blue Diaper Syndrome
Increased proinsulin:insulin ratio, Elevated circulating thyroid-stimulating hormone concentratio... ORPHA:94086
Combined Immunodeficiency Due To Zap70 Deficiency
Pneumonia, Recurrent mycobacterial infections, Recurrent viral infections, Lymphadenitis, Failure... ORPHA:911
Familial Nasal Acilia
Recurrent upper respiratory tract infections, Atelectasis, Chronic sinusitis, Chronic rhinitis, B... ORPHA:922
Pleural Mesothelioma
Abnormal lung morphology, Abnormal pleura morphology, Weight loss, Pleural effusion ORPHA:50251
Glucocorticoid Resistance, Generalized
Increased circulating cortisol level, Hypoglycemia, Increased circulating ACTH level, Increased c... OMIM:615962
Inflammatory Bowel Disease (Crohn Disease) 1
Inflammation of the large intestine, Recurrent aphthous stomatitis, Crohn's disease, Weight loss,... OMIM:266600
Progressive Microcephaly-Seizures-Cortical Blindness-Developmental Delay Syndrome
Recurrent infections, Bronchiectasis, Decreased body weight ORPHA:477814
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Pneumonia, Glomerulonephritis OMIM:247800
X-Linked Agammaglobulinemia
Recurrent pneumonia, Abnormal lung morphology, Sepsis, Failure to thrive, Hepatitis, Osteomyeliti... ORPHA:47
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Herpes simplex encephalitis, Recurrent otitis media, Molluscum contagiosum, Recurrent infections,... OMIM:618982
Autosomal Agammaglobulinemia
Recurrent infections, Bronchiectasis, Sepsis, Failure to thrive, Hepatitis, Osteomyelitis, Skin r... ORPHA:33110
Pneumocystosis
Pneumocystis jirovecii pneumonia, Interstitial pneumonitis, Pleural effusion, Multiple pulmonary ... ORPHA:723
Ciliary Dyskinesia, Primary, 43
Recurrent upper respiratory tract infections, Chronic sinusitis, Chronic rhinitis, Recurrent lowe... OMIM:618699
Combined Oxidative Phosphorylation Deficiency 34
Failure to thrive, Hypoglycemia, Elevated circulating thyroid-stimulating hormone concentration, ... OMIM:617872
Mody
Abnormal circulating insulin concentration, Abnormal oral glucose tolerance, Glycosuria, Insulin-... ORPHA:552
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Recurrent respiratory infections, Recurrent sinopulmonary infections, Bronchiectasis, Recurrent e... OMIM:615513
Immunodeficiency 57 With Autoinflammation
Inflammation of the large intestine, Failure to thrive, Skin rash, Perianal abscess, Gastritis, R... OMIM:618108
Ciliary Dyskinesia, Primary, 24
Recurrent otitis media, Bronchiectasis, Recurrent sinusitis, Chronic rhinitis OMIM:615481
Inflammatory Bowel Disease 11
Inflammation of the large intestine, Weight loss OMIM:191390
Undifferentiated Pleomorphic Sarcoma
Weight loss ORPHA:2023
T-Cell Immunodeficiency With Thymic Aplasia
Recurrent pneumonia, Recurrent viral infections, Eczematoid dermatitis, Failure to thrive, Pyoder... OMIM:242700
C1Q Deficiency 2
Discoid lupus rash, Pneumocystis carinii pneumonia, Sepsis, Atelectasis, Recurrent otitis media, ... OMIM:620321
Follicular Lymphoma
Meningitis, Weight loss, Pleural effusion ORPHA:545
Ciliary Dyskinesia, Primary, 11
Recurrent sinusitis, Chronic bronchitis, Chronic rhinitis, Recurrent respiratory infections, Bron... OMIM:612649
Focal Myositis
Myositis, Weight loss ORPHA:48918
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Persistent CMV viremia, Recurrent otitis media, Recurrent oral herpes, Recurrent lower respirator... OMIM:619220
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy
Cachexia ORPHA:1216
Ciliary Dyskinesia, Primary, 29
Recurrent respiratory infections, Bronchiectasis, Atelectasis OMIM:615872
Immunodeficiency 62
Recurrent upper respiratory tract infections, Severe recurrent varicella, Recurrent lower respira... OMIM:618459
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature
Recurrent lower respiratory tract infections, Recurrent upper respiratory tract infections, Bronc... OMIM:615139
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Pneumonia, Recurrent enteroviral infections, Enteroviral dermatomyositis syndrome, Recurrent otit... OMIM:307200
Ciliary Dyskinesia, Primary, 25
Recurrent pneumonia, Recurrent otitis media, Chronic bronchitis, Recurrent sinusitis, Chronic rhi... OMIM:615482
Ciliary Dyskinesia, Primary, 35
Recurrent pneumonia, Chronic sinusitis, Chronic rhinitis, Chronic otitis media, Bronchiectasis OMIM:617092
Chronic Hiccup
Weight loss ORPHA:396
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Recurrent infections, Atopic dermatitis, Recurrent pneumonia, Eczematoid dermatitis, Cutaneous ab... OMIM:618282
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Pneumonia, Sepsis, Chronic mucocutaneous candidiasis, Failure to thrive, Skin rash, Severe recurr... ORPHA:276
Melioidosis
Pneumonia, Unusual skin infection, Sepsis, Foot osteomyelitis, Cutaneous abscess, Hepatitis, Paro... ORPHA:31202
Bronchiectasis With Or Without Elevated Sweat Chloride 1
Bronchiectasis, Chronic bronchitis OMIM:211400
Ciliary Dyskinesia, Primary, 32
Recurrent otitis media, Chronic sinusitis, Chronic rhinitis, Recurrent respiratory infections, Br... OMIM:616481
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Pneumonia, Recurrent upper respiratory tract infections, Pneumocystis jirovecii pneumonia, Recurr... OMIM:614069
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Cachexia, Recurrent respiratory infections ORPHA:1389
Congenital Disorder Of Glycosylation, Type Iic
Recurrent otitis media, Pneumonia, Periodontitis, Bronchiolitis OMIM:266265
Isaacs Syndrome
Weight loss ORPHA:84142
Polyendocrine-Polyneuropathy Syndrome
Central hypothyroidism, Hypoglycemia, Decreased serum testosterone concentration, Type II diabete... ORPHA:453533
Intestinal Dysmotility Syndrome
Weight loss, Failure to thrive OMIM:620045
Immunodeficiency 52
Persistent CMV viremia, Recurrent pneumonia, Failure to thrive, Recurrent infections, Bronchiecta... OMIM:617514
Huntington Disease-Like 2
Weight loss ORPHA:98934
Ciliary Dyskinesia, Primary, 26
Recurrent otitis media, Recurrent sinusitis, Chronic bronchitis, Rhinitis, Recurrent respiratory ... OMIM:615500
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Persistent CMV viremia, Failure to thrive, Recurrent urinary tract infections, Recurrent otitis m... OMIM:618495
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive
Failure to thrive, Lymphocytic interstitial pneumonia OMIM:245590
Ciliary Dyskinesia, Primary, 34
Bronchiectasis, Recurrent bronchitis, Recurrent sinusitis, Chronic rhinitis OMIM:617091
Ciliary Dyskinesia, Primary, 7
Recurrent otitis media, Recurrent pneumonia, Bronchiectasis, Chronic rhinitis OMIM:611884
Selective Igm Deficiency
Allergic rhinitis, Rheumatoid arthritis, Lymphadenitis, Recurrent bronchitis, Meningitis, Cutaneo... ORPHA:331235
Ciliary Dyskinesia, Primary, 5
Recurrent pneumonia, Recurrent otitis media, Recurrent sinusitis, Chronic bronchitis, Chronic rhi... OMIM:608647
Insulin-Resistance Syndrome Type B
Postprandial hyperglycemia, Insulin resistance, Abnormal circulating leptin concentration, Insuli... ORPHA:2298
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome
Cachexia ORPHA:1144
Ciliary Dyskinesia, Primary, 13
Recurrent otitis media, Bronchiectasis, Recurrent bronchitis, Recurrent sinusitis OMIM:613193
Interstitial Lung Disease 1
Usual interstitial pneumonia, Intralobular septal thickening, Interlobular septal thickening, Ele... OMIM:619611
Bullous Pemphigoid
Recurrent infections, Weight loss, Psoriasiform dermatitis, Eczematoid dermatitis ORPHA:703
Mulibrey Nanism
Cachexia ORPHA:2576
Surfactant Metabolism Dysfunction, Pulmonary, 2
Intralobular septal thickening, Spontaneous pneumothorax, Recurrent pneumonia, Failure to thrive,... OMIM:610913
Immunodeficiency, Common Variable, 2
Recurrent pneumonia, Recurrent otitis media, Recurrent bronchitis, Recurrent sinusitis, Meningiti... OMIM:240500
Whim Syndrome 1
Recurrent bacterial infections, Recurrent upper respiratory tract infections, Bronchiectasis OMIM:193670
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Atrophic gastritis, Pneumonia, Inflammation of the large intestine, Recurrent upper respiratory t... ORPHA:436159
Combined Oxidative Phosphorylation Deficiency 51
Small for gestational age, Aspiration pneumonia OMIM:619057
Infantile Osteopetrosis With Neuroaxonal Dysplasia
Pneumonia ORPHA:85179
Ciliary Dyskinesia, Primary, 15
Recurrent pneumonia, Recurrent otitis media, Chronic sinusitis, Chronic bronchitis, Recurrent res... OMIM:613808
Acth Deficiency, Isolated
Decreased circulating cortisol level, Adrenocorticotropic hormone deficiency, Adrenal hypoplasia,... OMIM:201400
Agammaglobulinemia 1, Autosomal Recessive
Recurrent pneumonia, Recurrent enteroviral infections, Failure to thrive, Recurrent otitis media,... OMIM:601495
Immunodeficiency, Common Variable, 8, With Autoimmunity
Atrophic gastritis, Pneumonia, Inflammation of the large intestine, Recurrent pneumonia, Recurren... OMIM:614700
Pulmonary Alveolar Proteinosis, Acquired
Pneumonia, Intraalveolar phospholipid accumulation, Brain abscess, Lung abscess, Recurrent respir... OMIM:610910
Ciliary Dyskinesia, Primary, 19
Recurrent otitis media, Recurrent sinusitis, Chronic bronchitis, Rhinitis, Recurrent respiratory ... OMIM:614935
Lymphoid Interstitial Pneumonia
Rheumatoid arthritis, Failure to thrive, Eczematoid dermatitis, Severe viral infection, Subpleura... ORPHA:79128
Tracheobronchopathia Osteochondroplastica
Pneumonia, Recurrent pneumonia, Bronchitis, Atelectasis, Esophagitis, Recurrent respiratory infec... ORPHA:3348
Ciliary Dyskinesia, Primary, 12
Chronic otitis media, Chronic sinusitis, Chronic rhinitis, Recurrent respiratory infections, Bron... OMIM:612650
Aspergillosis
Pneumonia, Unusual CNS infection, Keratitis, Hepatitis, Osteomyelitis, Invasive pulmonary aspergi... ORPHA:1163
Immunodeficiency 58
Allergic rhinitis, Recurrent upper respiratory tract infections, Bronchiectasis, Recurrent pneumo... OMIM:618131
Yao Syndrome
Uveitis, Inflammatory abnormality of the skin, Skin rash, Weight loss, Keratoconjunctivitis sicca... OMIM:617321
Immunodeficiency 12
Recurrent viral infections, Recurrent aphthous stomatitis, Skin rash, Decreased body weight, Recu... OMIM:615468
Autosomal Dominant Severe Congenital Neutropenia
Pneumonia, Recurrent viral infections, Periodontitis, Recurrent aphthous stomatitis, Recurrent in... ORPHA:486
Ciliary Dyskinesia, Primary, 51
Recurrent respiratory infections, Bronchiectasis, Recurrent sinusitis, Chronic rhinitis OMIM:620438
Rigid Spine Syndrome
Pneumonia ORPHA:97244
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Cachexia, Weight loss, Failure to thrive OMIM:612075
Galactose Epimerase Deficiency
Weight loss ORPHA:79238
Post-Traumatic Pituitary Deficiency
Hypoglycemia, Decreased response to growth hormone stimulation test, Panhypopituitarism, Decrease... ORPHA:95619
Laryngeal Neuroendocrine Tumor
Weight loss ORPHA:100083
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Slender build, Cachexia, Weight loss OMIM:613662
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Elevated circulating 21-deoxycortisol concentration, Adrenogenital syndrome, Adrenal hyperplasia,... OMIM:201910
Generalized Pseudohypoaldosteronism Type 1
Atopic dermatitis, Recurrent tonsillitis, Failure to thrive in infancy, Osteomyelitis, Pustule, W... ORPHA:171876
Tularemia
Pneumonia, Brain abscess, Cutaneous abscess, Pleural effusion, Otitis media, Skin rash, Erythema ... ORPHA:3392
Immunodeficiency 27A
Increased inflammatory response, Weight loss, Pneumonia, Salmonella osteomyelitis OMIM:209950
Immunodeficiency 109 With Lymphoproliferation
Recurrent lower respiratory tract infections, Persistent EBV viremia, Bronchiectasis, Recurrent s... OMIM:620282
Hirschsprung Disease
Failure to thrive in infancy, Weight loss, Sepsis ORPHA:388
Diencephalic Syndrome
Cachexia, Decreased body weight ORPHA:1672
Combined Immunodeficiency Due To Crac Channel Dysfunction
Pneumonia, Recurrent mycobacterial infections, Recurrent viral infections, Sepsis, Recurrent fung... ORPHA:169090
Infant Acute Respiratory Distress Syndrome
Pneumonia, Sepsis, Atelectasis, Respiratory tract infection, Pulmonary edema ORPHA:70587
Ciliary Dyskinesia, Primary, 16
Bronchiectasis, Chronic otitis media, Chronic sinusitis, Chronic rhinitis OMIM:614017
Pyomyositis
Sepsis, Myositis, Weight loss, Recurrent infections, Recurrent cutaneous abscess formation ORPHA:764
Pituitary Stalk Interruption Syndrome
Ectopic posterior pituitary, Failure to thrive, Hypoglycemia, Hypothyroidism, Delayed puberty, Ad... ORPHA:95496
Drug Reaction With Eosinophilia And Systemic Symptoms
Hepatitis, Interstitial pneumonitis, Skin rash, Infectious encephalitis, Pustule, Weight loss, Er... ORPHA:139402
Oculopharyngodistal Myopathy
Recurrent aspiration pneumonia, Weight loss ORPHA:98897
Fusariosis
Pneumonia, Unusual CNS infection, Keratitis, Invasive fungal infection, Brain abscess, Fasciitis,... ORPHA:228119
Acute Myelomonocytic Leukemia
Weight loss ORPHA:517
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections
Keratitis, Eczematoid dermatitis, Recurrent otitis media, Recurrent respiratory infections, Bronc... OMIM:618523
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Recurrent pneumonia, Recurrent aphthous stomatitis, Recurrent infections, Bronchiectasis, Chronic... OMIM:150550
Purine Nucleoside Phosphorylase Deficiency
Pneumonia, Recurrent upper respiratory tract infections, Recurrent viral infections, Failure to t... OMIM:613179
Congenital Isolated Acth Deficiency
Adrenocorticotropin deficient adrenal insufficiency, Decreased circulating cortisol level, Adrena... ORPHA:199296
Idiopathic Pulmonary Fibrosis
Reticular pattern on pulmonary HRCT, Usual interstitial pneumonia, Honeycomb lung, Abnormal pulmo... ORPHA:2032
Ciliary Dyskinesia, Primary, 30
Recurrent otitis media, Chronic sinusitis, Chronic bronchitis, Recurrent respiratory infections, ... OMIM:616037
Ciliary Dyskinesia, Primary, 14
Recurrent pneumonia, Otitis media, Chronic bronchitis, Chronic sinusitis, Recurrent respiratory i... OMIM:613807
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Weight loss ORPHA:86893
Moynahan Syndrome
Cachexia ORPHA:2574
Eosinophilic Fasciitis
Myositis, Weight loss, Arthritis, Fasciitis ORPHA:3165
Rat-Bite Fever
Sepsis, Lymphadenitis, Parotitis, Morbilliform rash, Skin rash, Pustule, Myocarditis, Weight loss... ORPHA:31205
Autosomal Dominant Epidermolytic Ichthyosis
Weight loss, Erythroderma ORPHA:312
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Bronchiolitis, Interstitial pneumonitis, Enterocolitis, Recurrent sinopulmonary infections, Ulcer... OMIM:614878
Omenn Syndrome
Pneumonia, Recurrent viral infections, Failure to thrive, Recurrent fungal infections, Erythroder... OMIM:603554
Polyendocrine-Polyneuropathy Syndrome
Type I diabetes mellitus, Central hypothyroidism, Hypoglycemia, Hypogonadotropic hypogonadism, Ab... OMIM:616113
Ciliary Dyskinesia, Primary, 22
Recurrent respiratory infections, Recurrent otitis media, Chronic bronchitis, Recurrent sinusitis... OMIM:615444
Immunodeficiency 102
Recurrent upper respiratory tract infections, Sepsis, Recurrent sinusitis, Chronic sinusitis, Chr... OMIM:301082
Whim Syndrome
Pneumonia, Recurrent upper respiratory tract infections, Recurrent pneumonia, Lymphadenitis, Seps... ORPHA:51636
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Pneumonia, Failure to thrive, Chronic bronchitis, Sinusitis, Bronchiectasis OMIM:242860
Ciliary Dyskinesia, Primary, 1
Pneumonia, Bronchiectasis, Atelectasis, Recurrent bronchitis, Chronic sinusitis, Chronic rhinitis... OMIM:244400
Pseudomyxoma Peritonei
Inflammation of the large intestine, Weight loss ORPHA:26790
Kaposi Sarcoma
Abnormal lung morphology, Recurrent herpes, Weight loss, Skin rash ORPHA:33276
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Weight loss ORPHA:2198
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Inflammatory abnormality of the skin, Psoriasiform dermatitis, Crusting erythematous dermatitis, ... ORPHA:37042
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Recurrent respiratory infections, Bronchiectasis, Recurrent sinusitis OMIM:620197
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Recurrent pneumonia, Sepsis, Lymphadenitis, Recurrent otitis media, Recurrent sinusitis, Chronic ... OMIM:618986
Staphylococcal Necrotizing Pneumonia
Pneumonia, Sepsis, Pleural effusion, Pneumothorax, Severe infection, Acute infectious pneumonia, ... ORPHA:36238
Immunodeficiency 31C
Recurrent infections, Chronic mucocutaneous candidiasis, Eczematoid dermatitis, Osteomyelitis, Di... OMIM:614162
Alpha-1-Antitrypsin Deficiency
Bronchiectasis, Panacinar emphysema, Chronic bronchitis OMIM:613490
Laryngeal Abductor Paralysis-Intellectual Disability Syndrome
Bronchiectasis ORPHA:2375
Cap Polyposis
Atrophic gastritis, Weight loss ORPHA:160148
X-Linked Centronuclear Myopathy
Pneumonia, Recurrent respiratory infections ORPHA:596
Graft Versus Host Disease
Pneumonia, Inflammatory abnormality of the skin, Failure to thrive, Fasciitis, Acute hepatitis, C... ORPHA:39812
Peritoneal Cystic Mesothelioma
Peritonitis, Weight loss ORPHA:168816
Nocardiosis
Lymphadenitis, Scleritis, Weight loss, Meningitis, Endocarditis, Unusual CNS infection, Cutaneous... ORPHA:31204
Polyarteritis Nodosa
Abnormal lung morphology, Weight loss, Pleuritis, Pericarditis ORPHA:767
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Pneumonia, Recurrent upper respiratory tract infections, Failure to thrive, Recurrent otitis medi... OMIM:600802
Hereditary Central Diabetes Insipidus
Weight loss ORPHA:30925
Erythrokeratodermia Variabilis
Weight loss, Skin rash ORPHA:317
Microsporidiosis
Lymphadenitis, Keratoconjunctivitis, Cachexia, Weight loss, Prostatitis, Endocarditis, Osteomyeli... ORPHA:2552
Sarcoidosis, Susceptibility To, 2
Emphysema, Pleural effusion, Pneumothorax, Erythema nodosum, Abnormal pulmonary interstitial morp... OMIM:612387
Huntington Disease-Like 2
Weight loss OMIM:606438
Glucocorticoid Deficiency 2
Hypoglycemia, Recurrent hypoglycemia, Increased circulating ACTH level, Abnormal circulating reni... OMIM:607398
Majeed Syndrome
Inflammatory abnormality of the skin, Failure to thrive, Osteomyelitis, Synovitis, Pustule, Cache... ORPHA:77297
Immunodeficiency 92
Pneumonia, Persistent CMV viremia, Osteomyelitis, Esophagitis, Sclerosing cholangitis, BCGosis, R... OMIM:619652
Bacterial Toxic-Shock Syndrome
Glomerulonephritis, Meningitis, Recurrent skin infections, Osteomyelitis, Myositis, Peritonitis, ... ORPHA:36234
Hereditary Pulmonary Alveolar Proteinosis
Failure to thrive in infancy, Crazy paving pattern, Acute infectious pneumonia ORPHA:264675
Cleft Velum
Recurrent otitis media, Aspiration pneumonia ORPHA:99772
Immunodeficiency 40
Focal active colitis, Recurrent pneumonia, Recurrent otitis media, Interstitial pneumonitis, Resp... OMIM:616433
Bronchogenic Cyst
Pneumonia, Pulmonary cyst, Bronchogenic cyst, Atelectasis, Abnormal pleura morphology, Chronic in... ORPHA:2357
Acute Lung Injury
Pneumonia, Diffuse alveolar hemorrhage, Sepsis, Abnormal pulmonary interstitial morphology, Acute... ORPHA:178320
Malignant Peritoneal Mesothelioma
Peritonitis, Weight loss ORPHA:168811
Common Variable Immunodeficiency
Pneumonia, Bronchiectasis, Failure to thrive in infancy, Emphysema, Recurrent bronchitis, Otitis ... ORPHA:1572
Ciliary Dyskinesia, Primary, 38
Rhinitis, Chronic otitis media, Bronchiectasis, Chronic sinusitis OMIM:618063
Postinfectious Vasculitis
Inflammatory abnormality of the skin, Weight loss, Glomerulonephritis, Bacterial endocarditis, Re... ORPHA:48435
Combined Oxidative Phosphorylation Deficiency 41
Decreased circulating cortisol level, Hypoglycemia OMIM:618838
Idiopathic Chronic Eosinophilic Pneumonia
Atopic dermatitis, Atelectasis, Pleural effusion, Weight loss, Hypersensitivity pneumonitis ORPHA:2902
Nephronophthisis-Like Nephropathy 2
Recurrent respiratory infections, Bronchiectasis OMIM:619468
Central Diabetes Insipidus
Weight loss, Failure to thrive ORPHA:178029
Bone Dysplasia, Lethal Holmgren Type
Recurrent respiratory infections, Weight loss, Failure to thrive ORPHA:1842
Pemphigus Vulgaris
Recurrent infections, Weight loss, Recurrent cutaneous abscess formation ORPHA:704
Riddle Syndrome
Pneumonia, Recurrent pneumonia, Recurrent viral infections, Bronchitis, Otitis media, Recurrent s... ORPHA:420741
Granulomatosis With Polyangiitis
Diffuse alveolar hemorrhage, Keratitis, Elevated bronchoalveolar lavage fluid neutrophil proporti... OMIM:608710
Systemic Capillary Leak Syndrome
Pleural effusion, Pulmonary edema, Weight loss, Pancreatitis, Myocarditis, Pericarditis ORPHA:188
Mu-Heavy Chain Disease
Weight loss ORPHA:100024
Nephroblastoma
Weight loss, Neoplasm of the lung ORPHA:654
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Atrophic gastritis, Recurrent upper respiratory tract infections, Sepsis, Eczematoid dermatitis, ... OMIM:616100
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Decreased adiponectin level, Diabetes mellitus, Decreased serum leptin, Insulin resistance ORPHA:280365
Orthostatic Hypotension 2
Hypoglycemia OMIM:618182
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Atopic dermatitis, Recurrent upper respiratory tract infections, Recurrent pneumonia, Cutaneous a... OMIM:619752
Adult Acute Respiratory Distress Syndrome
Pneumonia, Pulmonary edema, Sepsis, Pancreatitis ORPHA:70578
Omenn Syndrome
Pneumonia, Sepsis, Failure to thrive, Erythroderma, Thyroiditis ORPHA:39041
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy
Recurrent aspiration pneumonia OMIM:619971
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Inflammation of the large intestine, Osteomyelitis, Psoriasiform dermatitis, Skin rash, Palmoplan... ORPHA:324964
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Aspiration pneumonia ORPHA:90117
Reactive Arthritis
Inflammation of the large intestine, Recurrent urinary tract infections, Osteomyelitis, Abnormal ... ORPHA:29207
Mast Cell Sarcoma
Weight loss ORPHA:66661
Attrv30M Amyloidosis
Weight loss ORPHA:85447
Classic Pantothenate Kinase-Associated Neurodegeneration
Weight loss, Aspiration pneumonia ORPHA:216866
Agammaglobulinemia, X-Linked
Recurrent pneumonia, Bronchiectasis, Sepsis, Conjunctivitis, Enteroviral dermatomyositis syndrome... OMIM:300755
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Pneumonia, Recurrent upper respiratory tract infections, Sepsis, Failure to thrive, BCGitis, Otit... OMIM:602450
Ciliary Dyskinesia, Primary, 2
Recurrent respiratory infections, Bronchiectasis, Otitis media, Sinusitis OMIM:606763
Surfactant Metabolism Dysfunction, Pulmonary, 3
Crazy paving pattern, Reticular pattern on pulmonary HRCT, Usual interstitial pneumonia, Intraalv... OMIM:610921
Deafness-Lymphedema-Leukemia Syndrome
Recurrent respiratory infections, Weight loss, Chronic otitis media ORPHA:3226
Hypercalcemia, Infantile, 1
Weight loss, Failure to thrive OMIM:143880
Acquired Central Diabetes Insipidus
Weight loss ORPHA:95626
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Abnormal lung morphology, Weight loss, Brain abscess ORPHA:54251
Perry Syndrome
Weight loss ORPHA:178509
Desmoplastic Small Round Cell Tumor
Cachexia, Weight loss, Neoplasm of the lung ORPHA:83469
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Recurrent viral infections, Recurrent enteroviral infections, Chronic mucocutaneous candidiasis, ... ORPHA:79124
Immunodeficiency 60 And Autoimmunity
Bronchiectasis, Crohn's disease, Recurrent sinopulmonary infections, Colitis, Pulmonary fibrosis,... OMIM:618394
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Pneumonia, Recurrent pneumonia, Inflammatory abnormality of the skin, Recurrent viral infections,... OMIM:102700
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Sepsis, Interstitial pneumonitis ORPHA:231154
Alexander Disease Type I
Cachexia, Failure to thrive ORPHA:363717
Juvenile Huntington Disease
Weight loss ORPHA:248111
Sporadic Creutzfeldt-Jakob Disease
Recurrent infections, Recurrent aspiration pneumonia, Sepsis ORPHA:204
Q Fever
Pneumonia, Unusual infection, Hepatitis, Osteomyelitis, Pleural effusion, Cholecystitis, Infectio... ORPHA:781
Takayasu Arteritis
Inflammatory abnormality of the eye, Increased inflammatory response, Weight loss, Arthritis ORPHA:3287
Timothy Syndrome
Pneumonia, Recurrent infections, Bronchitis OMIM:601005
Benign Recurrent Intrahepatic Cholestasis
Weight loss, Pancreatitis ORPHA:65682
Bloom Syndrome
Pneumonia, Recurrent infections, Recurrent tonsillitis, Bronchitis, Recurrent urinary tract infec... ORPHA:125
Classic Hodgkin Lymphoma
Weight loss, Skin rash ORPHA:391
Holocarboxylase Synthetase Deficiency
Perioral eczema, Weight loss, Eczematoid dermatitis, Keratoconjunctivitis ORPHA:79242
Retinitis Pigmentosa 82 With Or Without Situs Inversus
Recurrent infections, Bronchiectasis OMIM:615434
Immunodeficiency 23
Allergic rhinitis, Eczematoid dermatitis, Chronic mucocutaneous candidiasis, Failure to thrive, M... OMIM:615816
Yellow Nail Syndrome
Recurrent respiratory infections, Sinusitis, Rhinitis, Pleuritis, Bronchiectasis, Neoplasm of the... ORPHA:662
Avian Influenza
Pneumonia, Myelitis, Sepsis, Hepatitis, Pleural effusion, Infectious encephalitis, Pneumothorax, ... ORPHA:454836
Inflammatory Pseudotumor Of The Liver
Weight loss ORPHA:90003
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Recurrent upper respiratory tract infections, Interstitial pneumonitis OMIM:620296
Primary Ciliary Dyskinesia
Recurrent mycobacterial infections, Atelectasis, Recurrent otitis media, Pulmonary situs ambiguus... ORPHA:244
Congenital Muscular Dystrophy Due To Lmna Mutation
Cachexia ORPHA:157973
Adult-Onset Still Disease
Hepatitis, Interstitial pneumonitis, Skin rash, Weight loss, Arthritis, Arthralgia/arthritis, Myo... ORPHA:829
Pgm3-Cdg
Allergic rhinitis, Atopic dermatitis, Recurrent pneumonia, Bronchiectasis, Recurrent viral infect... ORPHA:443811
Spinocerebellar Ataxia 48
Cachexia OMIM:618093
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Recurrent aspiration pneumonia ORPHA:2590
Ménétrier Disease
Helicobacter pylori infection, Weight loss, Giant hypertrophic gastritis ORPHA:2494
Eosinophilic Gastroenteritis
Allergic rhinitis, Atopic dermatitis, Weight loss ORPHA:2070
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Large for gestational age, Diabetes mellitus, Glycosuria, Hypoglycemia OMIM:616026
Mitochondrial Complex I Deficiency, Nuclear Type 33
Bronchiectasis, Small for gestational age, Aspiration pneumonia OMIM:618253
Wilson Disease
Failure to thrive, Hepatitis, Increased body weight, Weight loss, Arthritis, Acute hepatitis ORPHA:905
Slc35A1-Cdg
Pneumonia, Pulmonary hemorrhage ORPHA:238459
Leishmaniasis
Rhinitis, Weight loss ORPHA:507
Pelizaeus-Merzbacher Disease
Failure to thrive in infancy, Cachexia, Recurrent respiratory infections ORPHA:702
Liposarcoma
Weight loss ORPHA:69078
Eosinophilic Granulomatosis With Polyangiitis
Abnormal pleura morphology, Skin rash, Increased inflammatory response, Myositis, Myocarditis, We... ORPHA:183
Subcutaneous Panniculitis-Like T-Cell Lymphoma
Weight loss, Panniculitis ORPHA:86884
Amoebiasis Due To Entamoeba Histolytica
Pleural effusion, Constrictive pericarditis, Weight loss, Lung abscess, Acute colitis, Pleural em... ORPHA:67
Anaplastic Thyroid Carcinoma
Weight loss, Neoplasm of the lung ORPHA:142
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3
Pneumonia OMIM:608033
Alpha-Mannosidosis, Adult Form
Pneumonia, Recurrent infections, Recurrent gastroenteritis ORPHA:309288
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Recurrent upper respiratory tract infections, Recurrent pneumonia, Recurrent viral infections, Fa... ORPHA:293978
Cystic Echinococcosis
Unusual infection, Pulmonary cyst, Invasive parasitic infection, Abnormal subpleural morphology, ... ORPHA:400
Medullary Thyroid Carcinoma
Weight loss, Neoplasm of the lung ORPHA:1332
Nodular Non-Suppurative Panniculitis
Inflammatory abnormality of the eye, Weight loss, Panniculitis ORPHA:33577
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Inflammation of the large intestine, Chronic gastritis, Esophagitis, Skin rash, Perianal abscess,... OMIM:301074
Brucellosis
Arteritis, Sacroiliac arthritis, Knee osteoarthritis, Weight loss, Glomerulonephritis, Epididymit... ORPHA:1304
Secondary Short Bowel Syndrome
Enterocolitis, Weight loss, Failure to thrive, Sepsis ORPHA:95427
Diffuse Alveolar Hemorrhage
Weight loss, Irregular septal thickening on pulmonary HRCT, Pulmonary fibrosis ORPHA:90060
Leukocyte Adhesion Deficiency
Lymphocytic interstitial pneumonia, Glomerulonephritis, Meningitis, Recurrent skin infections, Va... ORPHA:2968
Cryptogenic Organizing Pneumonia
Weight loss, Pneumothorax ORPHA:1302
Parkinson Disease 4, Autosomal Dominant
Weight loss OMIM:605543
Multiple Endocrine Neoplasia, Type I
Thyroid adenoma, Pituitary adenoma, Increased circulating cortisol level, Pituitary prolactin cel... OMIM:131100
Mcdonough Syndrome
Cachexia ORPHA:2471
Pyruvate Dehydrogenase E1-Alpha Deficiency
Recurrent infections, Recurrent aspiration pneumonia, Small for gestational age ORPHA:79243
Cystic Fibrosis
Decreased body mass index, Failure to thrive, Recurrent Burkholderia cepacia infections, Recurren... ORPHA:586
Immunodeficiency 36 With Lymphoproliferation
Persistent CMV viremia, Recurrent upper respiratory tract infections, Recurrent bacterial infecti... OMIM:616005
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Failure to thrive, Hypoglycemia, Abnormal circulating androgen level, Increased circulating ACTH ... ORPHA:90790
Thymic Carcinoma
Weight loss ORPHA:99868
Osteosarcoma
Weight loss ORPHA:668
Orofaciodigital Syndrome Viii
Recurrent aspiration pneumonia OMIM:300484
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Keratitis, Failure to thrive, Aspiration pneumonia, Tracheobronchial leiomyomatosis, Weight loss,... ORPHA:1018
Wild Type Attr Amyloidosis
Pulmonary edema, Abnormal pulmonary interstitial morphology, Weight loss, Pleural effusion ORPHA:330001
Congenital Enterocyte Heparan Sulfate Deficiency
Weight loss ORPHA:103910
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Weight loss OMIM:188580
Huntington Disease
Weight loss, Decreased body mass index ORPHA:399
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Recurrent upper respiratory tract infections, Eczematoid dermatitis, Interstitial pneumonitis, De... OMIM:615952
Graves Disease
Weight loss OMIM:275000
Polymyositis
Weight loss, Arthritis, Abnormal pulmonary interstitial morphology, Pulmonary fibrosis, Pericarditis ORPHA:732
Bronchial Neuroendocrine Tumor
Pneumonia, Abnormal pulmonary interstitial morphology, Weight loss ORPHA:97287
Thymoma
Rheumatoid arthritis, Myositis, Weight loss, Glomerulonephritis, Neoplasia of the pleura, Ulcerat... ORPHA:99867
Rhabdoid Tumor
Weight loss ORPHA:69077
Rheumatoid Arthritis
Rheumatoid arthritis, Weight loss OMIM:180300
Mitochondrial Neurogastrointestinal Encephalomyopathy
Cachexia, Weight loss ORPHA:298
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency
Pancreatitis, Failure to thrive, Aspiration pneumonia ORPHA:431361
Lipodystrophy Due To Peptidic Growth Factors Deficiency
Cachexia, Weight loss ORPHA:1979
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency
Interstitial pneumonitis, Abnormal pulmonary interstitial morphology, Intraalveolar phospholipid ... ORPHA:217563
Immunodeficiency 82 With Systemic Inflammation
Pneumonia, Pustular rash, Hepatitis, Bronchitis, Recurrent otitis media, Osteomyelitis, Skin rash... OMIM:619381
Christianson Syndrome
Cachexia ORPHA:85278
Acquired Hypertrichosis Lanuginosa
Weight loss ORPHA:2221
Severe Acute Respiratory Syndrome
Acute infectious pneumonia ORPHA:140896
Huntington Disease-Like 1
Weight loss ORPHA:157941
Gm1 Gangliosidosis
Failure to thrive, Aspiration pneumonia, Infectious encephalitis, Weight loss, Recurrent respirat... ORPHA:354
Autoimmune Pulmonary Alveolar Proteinosis
Crazy paving pattern, Weight loss, Intraalveolar phospholipid accumulation ORPHA:747
Isolated Succinate-Coq Reductase Deficiency
Weight loss ORPHA:3208
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Weight loss OMIM:613239
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2
Failure to thrive in infancy, Cachexia OMIM:616801
Meconium Aspiration Syndrome
Pneumothorax, Atelectasis, Aspiration pneumonia ORPHA:70588
Congenital Tufting Enteropathy
Punctate keratitis, Weight loss, Failure to thrive, Arthritis ORPHA:92050
Riboflavin Transporter Deficiency
Cachexia ORPHA:97229
Shigellosis
Pneumonia, Sepsis, Ulcerative colitis, Failure to thrive in infancy, Peritonitis, Arthritis, Myoc... ORPHA:810
Acute Promyelocytic Leukemia
Diffuse alveolar hemorrhage, Weight loss, Stomatitis, Chronic infection ORPHA:520
Malt Lymphoma
Posterior uveitis, Recurrent respiratory infections, Weight loss ORPHA:52417
Igg4-Related Aortitis
Increased inflammatory response, Weight loss ORPHA:449400
Granulomatosis With Polyangiitis
Recurrent intrapulmonary hemorrhage, Otitis media, Skin rash, Increased inflammatory response, Pr... ORPHA:900
Whipple Disease
Uveitis, Infectious encephalitis, Myositis, Cachexia, Arthritis, Myocarditis, Pleuritis, Pericard... ORPHA:3452
Primary Intestinal Lymphangiectasia
Weight loss, Pleural effusion, Opportunistic infection, Cryptococcal meningitis ORPHA:90362
Mirage Syndrome
Sepsis, Aspiration pneumonia, Recurrent urinary tract infections, Decreased body weight, Recurren... OMIM:617053
19Q13.11 Microdeletion Syndrome
Cachexia, Failure to thrive, Recurrent respiratory infections ORPHA:217346
Generalized Glucocorticoid Resistance Syndrome
Precocious puberty, Abnormal circulating testosterone concentration, Increased circulating cortis... ORPHA:786
Pulmonary Alveolar Microlithiasis
Bronchitis, Interlobular septal thickening, Subpleural interstitial thickening, Respiratory tract... ORPHA:60025
Listeriosis
Pneumonia, Unusual CNS infection, Arteritis, Unusual skin infection, Sepsis, Brain abscess, Osteo... ORPHA:533
Roifman-Chitayat Syndrome
Pneumonia, Arthritis OMIM:613328
Good Syndrome
Recurrent urinary tract infections, Sinusitis, Recurrent respiratory infections, Recurrent skin i... ORPHA:169105
Renpenning Syndrome
Cachexia ORPHA:3242
Alpha-1-Antitrypsin Deficiency
Bronchitis, Hepatitis, Emphysema, Panniculitis, Bronchiectasis ORPHA:60
Acrodermatitis Enteropathica
Failure to thrive, Pustule, Weight loss, Conjunctivitis, Cheilitis, Blepharitis ORPHA:37
Non-Functioning Paraganglioma
Weight loss ORPHA:94080
Mucoepithelial Dysplasia, Hereditary
Pneumonia, Recurrent pneumonia, Chronic mucocutaneous candidiasis, Keratoconjunctivitis, Fibrocys... OMIM:158310
Budd-Chiari Syndrome
Peritonitis, Weight loss, Cholecystitis ORPHA:131
Giant Cell Arteritis
Abnormal pleura morphology, Weight loss, Arthritis, Recurrent pharyngitis, Meningitis, Pericarditis ORPHA:397
Igg4-Related Kidney Disease
Inflammatory abnormality of the skin, Lymphadenitis, Arteritis, Urinary bladder inflammation, Int... ORPHA:449395
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Pneumonia OMIM:253700
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Pneumonia, Inflammatory abnormality of the skin, Obesity, Overweight, Small for gestational age ORPHA:26793
Aicardi-Goutieres Syndrome 9
Failure to thrive, Recurrent urinary tract infections, Chilblains, Weight loss, Acute pancreatiti... OMIM:619487
Congenital Multicore Myopathy With External Ophthalmoplegia
Pneumonia, Recurrent respiratory infections ORPHA:98905
Loeffler Endocarditis
Weight loss, Pericarditis ORPHA:75566
Juvenile Neuronal Ceroid Lipofuscinosis
Aspiration pneumonia ORPHA:79264
Congenital Tracheomalacia
Pneumonia, Abnormal pulmonary artery morphology, Recurrent upper respiratory tract infections, Fa... ORPHA:95430
Solitary Fibrous Tumor
Weight loss, Neoplasia of the pleura, Neoplasm of the lung ORPHA:2126
Familial Glucocorticoid Deficiency
Recurrent infections, Weight loss, Failure to thrive, Recurrent urinary tract infections ORPHA:361
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Hip osteoarthritis, Knee osteoarthritis, Synovitis, Oligoarthritis, Iridocyclitis, Weight loss, A... ORPHA:85408
Behçet Disease
Acne, Recurrent aphthous stomatitis, Pleural effusion, Infectious encephalitis, Increased inflamm... ORPHA:117
Hereditary Bullous Dystrophy, Macular Type
Pneumonia ORPHA:1867
Zygomycosis
Pustule, Acute infectious pneumonia, Endocarditis, Unusual skin infection, Pleural effusion, Peri... ORPHA:73263
Celiac Disease, Susceptibility To, 1
Eczematoid dermatitis, Failure to thrive, Recurrent aphthous stomatitis, Weight loss, Stomatitis,... OMIM:212750
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Cachexia ORPHA:1933
Glucose-Galactose Malabsorption
Weight loss, Failure to thrive ORPHA:35710
Congenital Syphilis
Pneumonia, Keratitis, Synovitis, Pancreatitis, Myocarditis, Meningitis, Rhinitis, Maculopapular e... ORPHA:499009
Sarcoidosis, Susceptibility To, 1
Inflammation of the large intestine, Emphysema, Pleural effusion, Iridocyclitis, Weight loss, Art... OMIM:181000
Ring Chromosome 10 Syndrome
Cachexia ORPHA:1438
Flynn-Aird Syndrome
Cachexia ORPHA:2047
Stevens-Johnson Syndrome
Sepsis, Abnormal pleura morphology, Weight loss, Pancreatitis, Conjunctivitis, Recurrent respirat... ORPHA:36426
Aggressive Systemic Mastocytosis
Weight loss, Maculopapular exanthema ORPHA:98850
Toxic Epidermal Necrolysis
Sepsis, Abnormal pleura morphology, Weight loss, Pancreatitis, Conjunctivitis, Recurrent respirat... ORPHA:537
Spondyloenchondrodysplasia
Pneumonia, Hepatitis, Skin rash, Arthritis, Juvenile rheumatoid arthritis, Recurrent infections ORPHA:1855
Coccidioidomycosis
Pneumonia, Unusual CNS infection, Folliculitis, Invasive fungal infection, Exudative pleural effu... ORPHA:228123
Tetrasomy 12P
Cachexia ORPHA:884
Cryptococcosis
Pneumonia, Sepsis, Osteomyelitis, Nodular pattern on pulmonary HRCT, Pleural effusion, Peritoniti... ORPHA:1546
Laryngotracheoesophageal Cleft Type 4
Cachexia ORPHA:93941
Late-Onset Isolated Acth Deficiency
Sepsis, Hepatitis, Failure to thrive, Hashimoto thyroiditis, Weight loss ORPHA:199299
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Cachexia ORPHA:2774
Refractory Celiac Disease
Inflammatory abnormality of the skin, Weight loss ORPHA:398063
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome
Severe failure to thrive, Cachexia ORPHA:371364
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Cachexia ORPHA:42
Imerslund-Gräsbeck Syndrome
Angular cheilitis, Weight loss, Failure to thrive ORPHA:35858
Fatal Familial Insomnia
Weight loss OMIM:600072
Simple Cryoglobulinemia
Nephritis, Viral hepatitis, Weight loss, Membranoproliferative glomerulonephritis, Arthritis, Abn... ORPHA:91139
Aicardi-Goutieres Syndrome 7
Atrophic gastritis, Pneumonia, Atopic dermatitis, Hepatitis, Chilblains, Skin rash, Weight loss, ... OMIM:615846
Spondyloenchondrodysplasia With Immune Dysregulation
Pneumonia, Rheumatoid arthritis, Recurrent otitis media, Recurrent sinusitis, Juvenile rheumatoid... OMIM:607944
Oromandibular Dystonia
Weight loss ORPHA:93958
Perry Syndrome
Weight loss OMIM:168605
Combined Oxidative Phosphorylation Deficiency 25
Failure to thrive, Aspiration pneumonia OMIM:616430
Ciliary Dyskinesia, Primary, 20
Recurrent pneumonia, Atelectasis, Recurrent otitis media, Recurrent sinusitis, Pulmonary artery s... OMIM:615067
Neuropathy, Congenital Hypomyelinating, 3
Cachexia OMIM:618186
Infection-Related Hemolytic Uremic Syndrome
Pneumonia, Brain abscess, Severe viral infection, Respiratory tract infection, Severe infection, ... ORPHA:544482
Wolman Disease
Cachexia ORPHA:75233
Cronkhite-Canada Syndrome
Cachexia ORPHA:2930
Malignant Atrophic Papulosis
Arteritis, Peritonitis, Weight loss, Pleural effusion ORPHA:679
Neuroblastoma, Susceptibility To, 1
Weight loss, Failure to thrive OMIM:256700
Adrenocortical Carcinoma
Increased body weight, Weight loss, Lung adenocarcinoma ORPHA:1501
8P23.1 Microdeletion Syndrome
Pulmonary artery stenosis, Obesity, Weight loss ORPHA:251071
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Recurrent pneumonia, Aspiration pneumonia ORPHA:314655
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Pneumonia, Sepsis, Skin rash ORPHA:247691
Erdheim-Chester Disease
Osteomyelitis, Pleural effusion, Skin rash, Weight loss, Abnormal pulmonary interstitial morpholo... ORPHA:35687
Shwachman-Diamond Syndrome
Pneumonia, Recurrent viral infections, Sepsis, Eczematoid dermatitis, Failure to thrive, Osteomye... ORPHA:811
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Recurrent viral infections, Recurrent urinary tract infections, Psoriasiform dermatitis, Recurren... ORPHA:221139
Klatskin Tumor
Weight loss ORPHA:99978
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Weight loss, Small for gestational age ORPHA:424
Acute Monoblastic/Monocytic Leukemia
Weight loss ORPHA:514
Juvenile Dermatomyositis
Skin rash, Myositis, Weight loss, Arthritis, Pulmonary fibrosis, Pericarditis ORPHA:93672
Infantile Krabbe Disease
Recurrent infections, Cachexia, Failure to thrive ORPHA:206436
Tropical Pancreatitis
Weight loss, Chronic calcifying pancreatitis ORPHA:103918
Hennekam-Beemer Syndrome
Pneumonia, Failure to thrive ORPHA:2135
Oculogastrointestinal Muscular Dystrophy
Cachexia ORPHA:1876
Aredyld Syndrome
Cachexia ORPHA:1133
Mohr-Tranebjaerg Syndrome
Aspiration pneumonia ORPHA:52368
Cystic Fibrosis
Recurrent pneumonia, Failure to thrive, Chronic sinusitis, Pancreatitis, Recurrent bronchopulmona... OMIM:219700
Symptomatic Form Of Hfe-Related Hemochromatosis
Weight loss, Arthritis ORPHA:465508
Gaucher Disease, Type Ii
Recurrent aspiration pneumonia, Bronchiolitis, Failure to thrive OMIM:230900
Atypical Werner Syndrome
Abnormal circulating leptin concentration, Insulin-resistant diabetes mellitus, Fasting hyperinsu... ORPHA:79474
Thymic Neuroendocrine Tumor
Weight loss ORPHA:97289
Rett Syndrome
Increased serum leptin, Failure to thrive ORPHA:778
Al Amyloidosis
Abnormal pulmonary interstitial morphology, Weight loss, Pulmonary interstitial high-resolution c... ORPHA:85443
Primary Hepatic Neuroendocrine Carcinoma
Weight loss, Neoplasm of the lung ORPHA:100085
Fanconi Anemia, Complementation Group F
Pneumonia, Failure to thrive OMIM:603467
Short Syndrome
Weight loss ORPHA:3163
Infantile Neuroaxonal Dystrophy
Aspiration pneumonia ORPHA:35069
Carney-Stratakis Syndrome
Weight loss ORPHA:97286
Peripheral Primitive Neuroectodermal Tumor
Weight loss, Pancreatitis ORPHA:370348