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Gene: Tmprss2 MGI:1354381

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Gene Summary

Name:
transmembrane protease, serine 2
Synonyms:
D16Ertd61e,  epitheliasin

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IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
increased circulating total protein level Tmprss2tm2b(EUCOMM)Hmgu HOM Early adult 1.17×10-05
abnormal contextual conditioning behavior Tmprss2tm2b(EUCOMM)Hmgu HOM Early adult 4.02×10-06
decreased cardiac muscle contractility Tmprss2tm2b(EUCOMM)Hmgu HOM Early adult 6.08×10-05
increased fasting circulating glucose level Tmprss2tm2b(EUCOMM)Hmgu HOM Early adult 1.64×10-05
abnormal auditory brainstem response Tmprss2tm2b(EUCOMM)Hmgu HOM   Early adult 5.75×10-09
improved glucose tolerance Tmprss2tm2b(EUCOMM)Hmgu HOM Early adult 1.14×10-05

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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.

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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FCS thumbnail FCS
Immunophenotyping

Panel B FCS file(s)

6 Images

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FCS thumbnail FCS
Immunophenotyping

Panel A FCS file(s)

6 Images

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Human diseases caused by Tmprss2 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 Tmprss2 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Prostatic Hyperplasia, Benign
Benign prostatic hyperplasia OMIM:600082
Prostate Cancer, Hereditary, 1
Prostate cancer OMIM:601518
Prostate Cancer
Prostate cancer OMIM:176807
Prostate Cancer, Hereditary, X-Linked 1
Prostate cancer OMIM:300147
Spermatogenic Failure 15
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility, Abnormal circul... OMIM:616950
Spermatogenic Failure 2
Azoospermia, Non-obstructive azoospermia, Oligospermia, Male infertility, Abnormal circulating te... OMIM:108420
Spermatogenic Failure 77
Azoospermia, Oligospermia, Male infertility, Abnormal circulating testosterone concentration, Abn... OMIM:620103
Immunodeficiency 51
Recurrent cutaneous fungal infections, Chronic oral candidiasis, Folliculitis, Chronic furunculos... OMIM:613953
Spermatogenic Failure 14
Azoospermia, Late spermatogenesis maturation arrest, Abnormal prolactin level, Male infertility, ... OMIM:615842
Spermatogenic Failure 28
Decreased testicular size, Decreased serum testosterone concentration, Male infertility, Elevated... OMIM:618086
Premature Ovarian Failure 17
Decreased serum estradiol, Premature ovarian insufficiency, Elevated circulating luteinizing horm... OMIM:619146
Premature Ovarian Failure 16
Premature ovarian insufficiency, Elevated circulating follicle stimulating hormone level, Reduced... OMIM:618723
Combined Immunodeficiency, X-Linked
Recurrent bronchitis, Sinusitis, Otitis media, Pneumonia, Decreased circulating IgG level OMIM:312863
46,Xy Sex Reversal 11
Urogenital sinus anomaly, Abnormal internal genitalia, Decreased serum testosterone concentration... OMIM:273250
Ciliary Dyskinesia, Primary, 44
Bronchiectasis, Reduced forced vital capacity, Recurrent sinusitis, Otitis media, Neonatal respir... OMIM:618781
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia
Primary amenorrhea, Decreased circulating follicle stimulating hormone concentration, Decreased s... OMIM:616030
Delayed Puberty, Self-Limited
Decreased circulating follicle stimulating hormone concentration, Delayed puberty, Decreased seru... OMIM:619613
Mucus Inspissation Of Respiratory Tract
Bronchiectasis, Chronic pulmonary obstruction, Chronic sinusitis, Recurrent respiratory infection... OMIM:253240
Young Syndrome
Recurrent bronchitis, Recurrent sinopulmonary infections, Bronchiectasis, Congenital pulmonary ai... OMIM:279000
Hypogonadotropic Hypogonadism 25 With Anosmia
Decreased serum estradiol, Hypothalamic gonadotropin-releasing hormone deficiency, Decreased seru... OMIM:618841
Spermatogenic Failure, X-Linked, 4
Azoospermia, Abnormal prolactin level, Male infertility, Elevated circulating luteinizing hormone... OMIM:301077
Ciliary Dyskinesia, Primary, 21
Decreased nasal nitric oxide, Bronchiectasis, Chronic sinusitis, Recurrent otitis media, Recurren... OMIM:615294
Mounier-Kühn Syndrome
Bronchitis, Recurrent bronchopulmonary infections, Recurrent respiratory infections, Pneumonia ORPHA:3347
Immunodeficiency 48
Recurrent candida infections, Panhypogammaglobulinemia, Pneumonia, Eczematoid dermatitis, Recurre... OMIM:269840
Deafness, Autosomal Recessive 9
Absent brainstem auditory responses, Sensorineural hearing impairment OMIM:601071
Immunodeficiency 104
Recurrent opportunistic infections, Eczema, Chronic mucocutaneous candidiasis, Recurrent otitis m... OMIM:608971
Auditory Neuropathy, Autosomal Dominant 1
Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:609129
Cd8 Deficiency, Familial
Recurrent bacterial infections, Recurrent viral infections, Recurrent respiratory infections, Bro... OMIM:608957
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Primary amenorrhea, Decreased serum estradiol, Decreased testicular size, Decreased serum testost... OMIM:614841
Ciliary Dyskinesia, Primary, 9
Decreased nasal nitric oxide, Bronchiectasis, Recurrent sinusitis, Recurrent otitis media, Chroni... OMIM:612444
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Conjunctivitis, Septic arthritis, Decreased response to growth hormone stimulation test, Prostati... OMIM:307200
Ciliary Dyskinesia, Primary, 33
Bronchiectasis, Recurrent bronchitis, Recurrent otitis media, Chronic rhinitis, Recurrent pneumon... OMIM:616726
Maturity-Onset Diabetes Of The Young, Type 10
Diabetic ketoacidosis, Diabetes mellitus, Hyperglycemia, Maturity-onset diabetes of the young OMIM:613370
Ciliary Dyskinesia, Primary, 42
Respiratory insufficiency, Decreased nasal nitric oxide, Bronchiectasis, Recurrent sinusitis, Chr... OMIM:618695
Maturity-Onset Diabetes Of The Young, Type 3
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young OMIM:600496
Ciliary Dyskinesia, Primary, 23
Chronic bronchitis, Bronchiectasis, Respiratory insufficiency due to defective ciliary clearance,... OMIM:615451
Premature Ovarian Failure 14
Elevated circulating follicle stimulating hormone level, Elevated circulating luteinizing hormone... OMIM:618014
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
Pneumonia, Recurrent upper respiratory tract infections, Atopic dermatitis OMIM:618806
Immunodeficiency, Common Variable, 4
Decreased circulating total IgM, Recurrent sinusitis, Complete or near-complete absence of specif... OMIM:613494
Tracheobronchomegaly
Recurrent bronchopulmonary infections, Bronchiectasis OMIM:275300
Ciliary Dyskinesia, Primary, 46
Bronchiectasis, Reduced forced vital capacity, Recurrent otitis media, Recurrent sinusitis, Recur... OMIM:619436
Deafness, Autosomal Recessive 104
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment OMIM:616515
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Primary amenorrhea, Decreased circulating follicle stimulating hormone concentration, Decreased s... OMIM:614897
Ciliary Dyskinesia, Primary, 39
Decreased nasal nitric oxide, Bronchiectasis, Recurrent otitis media, Rhinorrhea, Cough, Chronic ... OMIM:618254
Hypogonadotropic Hypogonadism 10 With Or Without Anosmia
Primary amenorrhea, Decreased circulating follicle stimulating hormone concentration, Decreased s... OMIM:614839
Ciliary Dyskinesia, Primary, 3
Decreased nasal nitric oxide, Bronchiectasis, Recurrent sinusitis, Recurrent otitis media, Neonat... OMIM:608644
Coronary Artery Disease, Autosomal Dominant 2
Sudden cardiac death, Impaired glucose tolerance, Type II diabetes mellitus, Hypertension, Myocar... OMIM:610947
Pituicytoma
Increased circulating prolactin concentration, Decreased response to growth hormone stimulation t... ORPHA:251623
Ciliary Dyskinesia, Primary, 29
Decreased nasal nitric oxide, Bronchiectasis, Recurrent respiratory infections, Ciliary dyskinesi... OMIM:615872
Ciliary Dyskinesia, Primary, 41
Recurrent otitis media, Impaired nasal mucociliary clearance, Recurrent sinusitis, Bronchiectasis OMIM:618449
Ciliary Dyskinesia, Primary, 27
Rhinitis, Decreased nasal nitric oxide, Chronic bronchitis, Bronchiectasis, Respiratory insuffici... OMIM:615504
Gonadoblastoma
Ambiguous genitalia, Increased serum testosterone level, Gonadal dysgenesis with female appearanc... ORPHA:206484
Idiopathic Bronchiectasis
Respiratory tract infection, Recurrent Haemophilus influenzae infections, Bronchiectasis, Product... ORPHA:60033
Complement Factor B Deficiency
Recurrent meningococcal disease, Peritonitis, Pneumonia, Recurrent bacterial infections OMIM:615561
Combined Immunodeficiency Due To Dock8 Deficiency
Onychomycosis, Recurrent bacterial skin infections, Atopic dermatitis, Asthma, Recurrent sinusiti... ORPHA:217390
Ciliary Dyskinesia, Primary, 36, X-Linked
Decreased nasal nitric oxide, Bronchiectasis, Recurrent sinusitis, Cough, Neonatal respiratory di... OMIM:300991
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Conjunctivitis, Recurrent opportunistic infections, Panhypogammaglobulinemia, Purulent rhinitis, ... OMIM:601457
Bronchiolitis Obliterans With Obstructive Pulmonary Disease
Respiratory tract infection, Bronchiectasis, Hypoxemia, Reduced forced vital capacity, Bronchioli... ORPHA:1303
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Testicular microlithiasis, Abnormal spermatogenesis, Secondary amenorrhea, Decreased circulating ... OMIM:228300
Gaisböck Syndrome
Hyperuricemia, Elevated diastolic blood pressure, Hypovolemia, Increased circulating renin level,... ORPHA:90041
Melioidosis
Septic arthritis, Prostatitis, Hepatitis, Cutaneous abscess, Foot osteomyelitis, Parotitis, Pneum... ORPHA:31202
Methemoglobinemia And Ambiguous Genitalia
Scrotal hypospadias, Ambiguous genitalia, Decreased circulating dehydroepiandrosterone-sulfate co... OMIM:250790
Acute Lung Injury
Abnormal pulmonary interstitial morphology, Increased circulating interleukin 6 concentration, Ab... ORPHA:178320
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency
Lymphadenitis, Recurrent mycobacterial infections, Tegumentary leishmaniasis susceptibility, Recu... ORPHA:319552
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Hypoproteinemia, Sensorineural hearing impairment, Tachycardia OMIM:221400
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
Ovarian Dysgenesis 9
Decreased serum estradiol, Premature ovarian insufficiency, Hypoplasia of the ovary, Delayed pube... OMIM:619665
Leydig Cell Hypoplasia
Primary amenorrhea, Testicular gonadoblastoma, Ambiguous genitalia, Female hypogonadism, Primary ... ORPHA:755
Ciliary Dyskinesia, Primary, 28
Rhinitis, Decreased nasal nitric oxide, Chronic bronchitis, Bronchiectasis, Respiratory insuffici... OMIM:615505
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Gonadoblastoma, Abnormality of female external genitalia, Decreased serum estradiol, Infertility,... ORPHA:168563
Immunodeficiency, Common Variable, 1
Conjunctivitis, Decreased circulating total IgM, Bronchiectasis, Recurrent bronchitis, Recurrent ... OMIM:607594
Adult Acute Respiratory Distress Syndrome
Increased circulating interleukin 6 concentration, Pulmonary edema, Abnormality of tumor necrosis... ORPHA:70578
Ciliary Dyskinesia, Primary, 7
Decreased nasal nitric oxide, Bronchiectasis, Recurrent otitis media, Chronic rhinitis, Recurrent... OMIM:611884
Ovarian Dysgenesis 10
Decreased serum estradiol, Premature ovarian insufficiency, Hypoplasia of the ovary, Elevated cir... OMIM:619834
Microsporidiosis
Prostatitis, Myositis, Pneumonia, Endocarditis, Lymphadenitis, Osteomyelitis, Thyroiditis, Cholan... ORPHA:2552
Diabetes Mellitus, Permanent Neonatal, 4
Diabetic ketoacidosis, Type I diabetes mellitus, Elevated hemoglobin A1c, Reduced C-peptide level... OMIM:618858
Ciliary Dyskinesia, Primary, 48, Without Situs Inversus
Recurrent otitis media, Recurrent pneumonia, Recurrent sinusitis, Bronchiectasis OMIM:620032
Isolated Follicle Stimulating Hormone Deficiency
Female hypogonadism, Gonadotropin deficiency, Decreased serum estradiol, Decreased female libido,... ORPHA:52901
Ovarian Dysgenesis 4
Elevated circulating follicle stimulating hormone level, Decreased serum estradiol, Primary ameno... OMIM:616185
Complete Androgen Insensitivity Syndrome
Increased serum estradiol, Increased serum testosterone level, Abnormal circulating follicle-stim... ORPHA:99429
Ciliary Dyskinesia, Primary, 24
Decreased nasal nitric oxide, Bronchiectasis, Immotile cilia, Chronic pulmonary obstruction, Recu... OMIM:615481
Immunodeficiency, Common Variable, 12, With Autoimmunity
Atrophic gastritis, Bronchiectasis, Decreased circulating antibody level, Chronic pulmonary obstr... OMIM:616576
Premature Ovarian Failure 8
Decreased serum estradiol, Premature ovarian insufficiency, Elevated circulating follicle stimula... OMIM:615723
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Bronchiectasis, Respiratory distress, Abnormal mucociliary clearance, Recurrent respiratory infec... OMIM:619466
Immunodeficiency 11B With Atopic Dermatitis
Decreased circulating total IgM, Bronchiectasis, Asthma, Ulcerative colitis, Colonic eosinophilia... OMIM:617638
Severe Combined Immunodeficiency, X-Linked
Decreased circulating total IgM, Chronic oral candidiasis, Skin rash, Decreased circulating IgE, ... OMIM:300400
Immunodeficiency 65, Susceptibility To Viral Infections
Recurrent viral infections, Recurrent gastroenteritis, Stomatitis, Bronchiectasis OMIM:618648
Ciliary Dyskinesia, Primary, 20
Bronchiectasis, Respiratory insufficiency due to defective ciliary clearance, Recurrent sinusitis... OMIM:615067
Partial Androgen Insensitivity Syndrome
Ambiguous genitalia, Male sexual dysfunction, Blind vagina, Primary amenorrhea, Increased circula... ORPHA:90797
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Adrenocorticotropic hormone excess, Decreased circulating aldosterone level, Decreased circulatin... ORPHA:90793
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials, Facial palsy OMIM:601382
Ciliary Dyskinesia, Primary, 45
Immotile cilia, Recurrent respiratory infections, Bronchiectasis, Chronic rhinitis OMIM:618801
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Recurrent ear infections, Bronchiectasis, Decreased circulating IgG2 level, Recurrent sinopulmona... OMIM:615513
Bdv Syndrome
Central hypothyroidism, Primary amenorrhea, Decreased circulating follicle stimulating hormone co... OMIM:619326
X-Linked Intellectual Disability, Van Esch Type
Absence of secondary sex characteristics, Decreased testicular size, Type II diabetes mellitus, D... ORPHA:163976
Glucocorticoid Resistance, Generalized
Irregular menstruation, Increased serum testosterone level, Increased circulating cortisol level,... OMIM:615962
Testicular Agenesis
Urogenital sinus anomaly, Ambiguous genitalia, Absent external genitalia, Urethrovaginal fistula,... ORPHA:325124
Ciliary Dyskinesia, Primary, 11
Decreased nasal nitric oxide, Chronic bronchitis, Bronchiectasis, Immotile cilia, Recurrent sinus... OMIM:612649
Immunodeficiency 62
Complete or near-complete absence of specific antibody response to tetanus vaccine, Decreased cir... OMIM:618459
Immunodeficiency 89 And Autoimmunity
Reduced circulating interleukin 22 concentration, Crohn's disease, Bronchiectasis, Reduced circul... OMIM:619632
Diabetes Mellitus, Transient Neonatal, 3
Transient neonatal diabetes mellitus, Maternal diabetes, Elevated hemoglobin A1c, Reduced C-pepti... OMIM:610582
Ovarian Dysgenesis 5
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Primary amenorrhea, El... OMIM:617690
Optic Atrophy 8
Sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials, Mitral regu... OMIM:616648
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Increased circulating antibody level, Glomerulonephritis, Pneumonia OMIM:247800
Idiopathic Achalasia
Bronchitis, Cough, Wheezing, Recurrent aspiration pneumonia ORPHA:930
Mullerian Aplasia And Hyperandrogenism
Aplasia of the vagina, Aplasia of the fallopian tube, Aplasia of the uterus, Primary amenorrhea, ... OMIM:158330
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Adrenocorticotropic hormone excess, Decreased circulating aldosterone level, Ambiguous genitalia,... ORPHA:90791
46,Xx Sex Reversal 5
Urogenital sinus anomaly, Ambiguous genitalia, Increased serum testosterone level OMIM:618901
Diabetes Mellitus, Permanent Neonatal, 2
Hyperglycemia, Hypsarrhythmia, Type I diabetes mellitus, Reduced C-peptide level OMIM:618856
Diabetes Mellitus, Permanent Neonatal, 1
Type I diabetes mellitus, Diabetes mellitus, Elevated hemoglobin A1c, Reduced C-peptide level, Hy... OMIM:606176
Obesity Due To Congenital Leptin Deficiency
Hyperinsulinemia, Decreased serum estradiol, Absence of secondary sex characteristics, Decreased ... ORPHA:66628
Familial Nasal Acilia
Bronchiectasis, Respiratory distress, Chronic sinusitis, Chronic rhinitis, Recurrent upper respir... ORPHA:922
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Recurrent candida infections, Chronic oral candidiasis, Increased circulating antibody level, Hep... ORPHA:169160
Ciliary Dyskinesia, Primary, 32
Decreased nasal nitric oxide, Bronchiectasis, Immotile cilia, Chronic pulmonary obstruction, Recu... OMIM:616481
Agammaglobulinemia, X-Linked
Conjunctivitis, Septic arthritis, Bronchiectasis, Prostatitis, Pyoderma, Enteroviral hepatitis, R... OMIM:300755
Caspase 8 Deficiency
Decreased circulating total IgM, Asthma, Eczema, Recurrent sinopulmonary infections, Complete or ... OMIM:607271
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Ambiguous genitalia, Premature thelarche, Precocious puberty, Ambiguous genitalia, female, Decrea... ORPHA:90795
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Decreased circulating follicle stimulating hormone concentration, Decreased serum estradiol, Hypo... OMIM:614842
Glycogen Storage Disease 0, Liver
Fasting hypoglycemia, Postprandial hyperglycemia, Neonatal hypoglycemia OMIM:240600
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature
Recurrent lower respiratory tract infections, Recurrent upper respiratory tract infections, Decre... OMIM:615139
Ciliary Dyskinesia, Primary, 26
Rhinitis, Decreased nasal nitric oxide, Chronic bronchitis, Bronchiectasis, Respiratory insuffici... OMIM:615500
Obesity Due To Leptin Receptor Gene Deficiency
Hyperinsulinemia, Decreased serum estradiol, Absence of secondary sex characteristics, Decreased ... ORPHA:179494
Estrogen Resistance Syndrome
Hyperinsulinemia, Enlarged polycystic ovaries, Absence of secondary sex characteristics, Abnormal... ORPHA:785
Ciliary Dyskinesia, Primary, 25
Chronic bronchitis, Bronchiectasis, Productive cough, Immotile cilia, Chronic pulmonary obstructi... OMIM:615482
Muscular Hypertonia, Lethal
Pneumonia, Respiratory distress OMIM:254120
Ciliary Dyskinesia, Primary, 17
Bronchiectasis, Chronic sinusitis, Recurrent otitis media, Chronic rhinitis, Cough, Recurrent res... OMIM:614679
Ciliary Dyskinesia, Primary, 43
Bronchiectasis, Productive cough, Chronic sinusitis, Chronic rhinitis, Recurrent upper respirator... OMIM:618699
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Ambiguous genitalia, Absent scrotum, Scrotal hypospadias, Elevated circulating 17-hydroxyprogeste... OMIM:201810
Ciliary Dyskinesia, Primary, 5
Chronic bronchitis, Bronchiectasis, Respiratory insufficiency due to defective ciliary clearance,... OMIM:608647
Ciliary Dyskinesia, Primary, 35
Decreased nasal nitric oxide, Bronchiectasis, Productive cough, Chronic sinusitis, Chronic rhinit... OMIM:617092
Tracheobronchopathia Osteochondroplastica
Respiratory insufficiency, Bronchitis, Exertional dyspnea, Productive cough, Recurrent respirator... ORPHA:3348
Enterokinase Deficiency
Hypoproteinemia OMIM:226200
Whim Syndrome 1
Bronchiectasis, Decreased circulating antibody level, Recurrent bacterial infections, Recurrent u... OMIM:193670
Bare Lymphocyte Syndrome, Type I
Bronchiectasis, Recurrent bronchitis, Chronic sinusitis, Emphysema, Bronchiolitis, Chronic otitis... OMIM:604571
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Herpes simplex encephalitis, Bronchiectasis, Recurrent otitis media, Increased circulating IgE le... OMIM:618982
Ciliary Dyskinesia, Primary, 34
Decreased nasal nitric oxide, Bronchiectasis, Reduced respiratory ciliary beating frequency, Recu... OMIM:617091
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Chronic bronchitis, Decreased circulating total IgM, Decreased circulating antibody level, Recurr... OMIM:614069
Adrenocortical Carcinoma
Increased serum estradiol, Hyperhidrosis, Hyperaldosteronism, Increased urinary cortisol level, I... ORPHA:1501
Chromosome Xq27.3-Q28 Duplication Syndrome
Hypogonadism, Decreased testicular size, Increased circulating gonadotropin level, Cryptorchidism... OMIM:300869
Immunodeficiency 56
Panhypogammaglobulinemia, Bronchiectasis, Recurrent sinusitis, Recurrent otitis media, Cholangiti... OMIM:615207
Pulmonary Alveolar Proteinosis, Acquired
Intraalveolar phospholipid accumulation, Hypoxemia, Lung abscess, Decreased DLCO, Inspiratory cra... OMIM:610910
X-Linked Intellectual Disability, Cilliers Type
Absence of secondary sex characteristics, Decreased testicular size, Decreased serum testosterone... ORPHA:163971
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Bronchiectasis, Viral hepatitis, Psoriasiform dermatitis, Pneumonia, Atopic dermatitis, Sepsis, D... ORPHA:183675
Immunodeficiency With Hyper-Igm, Type 4
Osteomyelitis, Bronchiectasis, Recurrent bacterial infections, Recurrent upper respiratory tract ... OMIM:608184
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Ovarian Fibrothecoma
Increased serum testosterone level, Gonadal calcification, Abnormal circulating hormone concentra... ORPHA:314478
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Decreased circulating follicle stimulating hormone concentration, Decreased testicular size, Hypo... OMIM:308700
Ciliary Dyskinesia, Primary, 15
Chronic bronchitis, Bronchiectasis, Chronic sinusitis, Recurrent otitis media, Recurrent pneumoni... OMIM:613808
46,Xx Sex Reversal 2
Sex reversal, Hypoplasia of the vagina, Bifid scrotum, True hermaphroditism, Azoospermia, Decreas... OMIM:278850
Ciliary Dyskinesia, Primary, 12
Decreased nasal nitric oxide, Bronchiectasis, Chronic pulmonary obstruction, Chronic sinusitis, C... OMIM:612650
Obesity Due To Sim1 Deficiency
Hypotension, Hyperinsulinemia, Cognitive impairment, Abnormal autonomic nervous system physiology... ORPHA:369873
Isolated Congenital Hypoglossia/Aglossia
Dyspnea, Upper airway obstruction, Aspiration pneumonia, Respiratory distress ORPHA:141152
Retinal Dystrophy And Microvillus Inclusion Disease
Recurrent lower respiratory tract infections, Recurrent upper respiratory tract infections, Bronc... OMIM:619446
Interstitial Lung Disease 1
Intralobular septal thickening, Elevated bronchoalveolar lavage fluid neutrophil proportion, Elev... OMIM:619611
Facioscapulohumeral Muscular Dystrophy 3, Digenic
Aspiration pneumonia OMIM:619477
46,Xy Partial Gonadal Dysgenesis
Ambiguous genitalia, Gonadoblastoma, Adrenal insufficiency, Increased circulating gonadotropin le... ORPHA:251510
Immunodeficiency, Common Variable, 2
Conjunctivitis, Bronchiectasis, Recurrent bronchitis, Recurrent sinusitis, Recurrent otitis media... OMIM:240500
Ravine Syndrome
Abnormal auditory evoked potentials ORPHA:99852
46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Abnormal circulating corticosterone level, Primary amenorrhea, Hypoplasia of the uterus, Decrease... ORPHA:90796
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive
Decreased circulating total IgM, Bronchiectasis, Eosinophilic infiltration of the esophagus, Asth... OMIM:243700
Granulomatosis With Polyangiitis
Diabetes insipidus, Prostatitis, Skin rash, Inflammatory abnormality of the eye, Pericarditis, Ch... ORPHA:900
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hypoketotic hypoglycemia, Increased circulating free fatty acid level, Dilated cardiomyopathy, El... ORPHA:26793
Gastritis, Familial Giant Hypertrophic
Hypoproteinemia OMIM:137280
Hemophagocytic Syndrome Associated With An Infection
Hypertriglyceridemia, Hyperproteinemia, Increased circulating ferritin concentration ORPHA:158048
Pneumocystosis
Respiratory insufficiency, Exertional dyspnea, Chronic oral candidiasis, Increased circulating an... ORPHA:723
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Hyperglycemia, Glucose intolerance OMIM:307500
Autosomal Dominant Optic Atrophy Plus Syndrome
Temporal optic disc pallor, Sensorineural hearing impairment, Optic atrophy, Absent brainstem aud... ORPHA:1215
Generalized Glucocorticoid Resistance Syndrome
Ambiguous genitalia, Precocious puberty, Decreased circulating aldosterone level, Increased circu... ORPHA:786
Immunodeficiency 75 With Lymphoproliferation
Recurrent respiratory infections, Bronchiectasis OMIM:619126
Polyembryoma
Irregular menstruation, Macroorchidism, Isosexual precocious puberty, Increased serum testosteron... ORPHA:180229
Ciliary Dyskinesia, Primary, 13
Bronchiectasis, Immotile cilia, Recurrent bronchitis, Recurrent sinusitis, Recurrent otitis media... OMIM:613193
Multiple Myeloma
Elevated circulating creatinine concentration, Hyperproteinemia, Hypercalcemia ORPHA:29073
Scedosporiosis
Bronchitis, Septic arthritis, Endocarditis, Osteomyelitis, Pleural empyema, Pleuritis, Abnormal r... ORPHA:449280
Diabetes Mellitus, Transient Neonatal, 1
Hyperglycemia, Transient neonatal diabetes mellitus OMIM:601410
Ciliary Dyskinesia, Primary, 19
Rhinitis, Chronic bronchitis, Bronchiectasis, Respiratory insufficiency due to defective ciliary ... OMIM:614935
49,Xxxyy Syndrome
Primary gonadal insufficiency, Ambiguous genitalia, Abnormality of the testis size, External geni... ORPHA:261534
Polyendocrine-Polyneuropathy Syndrome
Central hypothyroidism, Decreased circulating follicle stimulating hormone concentration, Anterio... ORPHA:453533
Infant Acute Respiratory Distress Syndrome
Respiratory tract infection, Sepsis, Pulmonary edema, Nasal flaring, Hypoxemia, Respiratory failu... ORPHA:70587
Surfactant Metabolism Dysfunction, Pulmonary, 2
Respiratory insufficiency, Desquamative interstitial pneumonitis, Bronchiectasis, Decreased DLCO,... OMIM:610913
Igg4-Related Ophthalmic Disease
Abnormality of the anterior pituitary, Prostatitis, Thyroiditis, Cholangitis, Sinusitis, Orchitis... ORPHA:449563
Idiopathic Pulmonary Fibrosis
Abnormal pulmonary interstitial morphology, Exertional dyspnea, Bronchiectasis, Honeycomb lung, R... ORPHA:2032
Immunodeficiency 57 With Autoinflammation
Perianal abscess, Bronchiectasis, Decreased circulating antibody level, Skin rash, Inflammation o... OMIM:618108
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Bronchiectasis, Increased circulating IgG level, Recurrent otitis media, Increased circulating Ig... OMIM:619220
Ciliary Dyskinesia, Primary, 30
Respiratory insufficiency, Decreased nasal nitric oxide, Chronic bronchitis, Bronchiectasis, Resp... OMIM:616037
Alkaptonuria
Arthritis, Osteoarthritis, Prostatitis ORPHA:56
Ciliary Dyskinesia, Primary, 14
Chronic bronchitis, Bronchiectasis, Chronic sinusitis, Recurrent pneumonia, Abnormal ciliary moti... OMIM:613807
Cryptococcosis
Peritonitis, Pneumonia, Osteomyelitis, Prostatitis ORPHA:1546
Functioning Gonadotropic Adenoma
Impotence, Anterior hypopituitarism, Decreased female libido, Oligospermia, Increased circulating... ORPHA:91348
Isolated Agammaglobulinemia
Recurrent respiratory infections, Skin rash, Inflammatory abnormality of the eye, Arthritis, Recu... ORPHA:229717
Transient Neonatal Diabetes Mellitus
Transient neonatal diabetes mellitus, Diabetic ketoacidosis, Maternal diabetes, Maturity-onset di... ORPHA:99886
Immunodeficiency 77
Cutaneous abscess, Chronic pulmonary obstruction, Bronchiectasis, Recurrent tonsillitis OMIM:619223
Igg4-Related Submandibular Gland Disease
Abnormality of the thyroid gland, Xerostomia, Prostatitis, Cholangitis ORPHA:449432
Hemochromatosis, Type 4
Impaired glucose tolerance, Elevated transferrin saturation, Diabetes mellitus, Increased circula... OMIM:606069
Igg4-Related Kidney Disease
Lymphadenitis, Tubulointerstitial nephritis, Abnormality of the anterior pituitary, Prostatitis, ... ORPHA:449395
Microlissencephaly
Pneumonia ORPHA:1083
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Adrenogenital syndrome, Increased serum testosterone level, Decreased circulating aldosterone lev... OMIM:202010
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Respiratory tract infection, Chronic bronchitis, Bronchiectasis, Honeycomb lung, Hypoxemia, Chron... ORPHA:79127
Autosomal Recessive Spastic Paraplegia Type 44
Abnormal motor evoked potentials, Abnormal auditory evoked potentials, Sensorineural hearing impa... ORPHA:320401
Immunodeficiency 52
Bronchiectasis, Decreased circulating antibody level, Recurrent pneumonia, Recurrent infections, ... OMIM:617514
Diabetes And Deafness, Maternally Inherited
Hyperglycemia, Type II diabetes mellitus, Sensorineural hearing impairment, Cardiomyopathy OMIM:520000
Leptospirosis
Hypotension, Retinal hemorrhage, Pulmonary hemorrhage, Subconjunctival hemorrhage, Pericarditis, ... ORPHA:509
Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive
Osteomyelitis, Chronic oral candidiasis, Bronchiectasis, Eczema, Recurrent sinusitis, Recurrent o... OMIM:618282
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Enterocolitis, Decreased circulating total IgM, Interstitial pneumonitis, Recurrent sinopulmonary... OMIM:614878
Neonatal Alloimmune Neutropenia
Pneumonia, Sepsis ORPHA:464370
Hypertriglyceridemia 1
Hypertriglyceridemia, Increased VLDL cholesterol concentration, Glucose intolerance OMIM:145750
Hyperlipoproteinemia, Type Iv
Hypertriglyceridemia, Increased VLDL cholesterol concentration, Glucose intolerance OMIM:144600
Ciliary Dyskinesia, Primary, 22
Rhinitis, Chronic bronchitis, Decreased nasal nitric oxide, Bronchiectasis, Respiratory insuffici... OMIM:615444
Immunodeficiency 32B
Abnormal circulating IgG level, Recurrent respiratory infections, Bronchiectasis, Sinusitis, Recu... OMIM:226990
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Recurrent bacterial skin infections, Recurrent cutaneous fungal infections, Recurrent opportunist... ORPHA:276
Non-Functioning Pituitary Adenoma
Impotence, Anterior hypopituitarism, Adrenal insufficiency, Decreased female libido, Increased ci... ORPHA:91349
Rigid Spine Syndrome
Respiratory insufficiency, Pneumonia, Abnormality on pulmonary function testing ORPHA:97244
Immunodeficiency 102
Sepsis, Increased circulating interleukin 6 concentration, Decreased circulating total IgM, Bronc... OMIM:301082
Pigmented Nodular Adrenocortical Disease, Primary, 1
Increased serum testosterone level, Increased circulating cortisol level, Secondary amenorrhea, D... OMIM:610489
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Hypoproteinemia OMIM:207731
Laryngeal Abductor Paralysis-Intellectual Disability Syndrome
Neonatal asphyxia, Congenital laryngeal stridor, Bronchiectasis ORPHA:2375
Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome
Aspiration pneumonia OMIM:609528
Immunodeficiency 13
Bronchiectasis, Recurrent sinusitis, Recurrent otitis media, Recurrent pneumonia, Recurrent upper... OMIM:615518
Immunodeficiency, Common Variable, 8, With Autoimmunity
Bronchiectasis, Recurrent sinusitis, Colitis, Pneumonia, Sepsis, Decreased circulating IgG level,... OMIM:614700
Alpha-1-Antitrypsin Deficiency
Chronic bronchitis, Bronchiectasis, Chronic pulmonary obstruction, Dyspnea, Cough, Panacinar emph... OMIM:613490
Immunodeficiency 43
Decreased circulating beta-2-microglobulin level, Hypoproteinemia, Hypoalbuminemia OMIM:241600
Pancreatic insufficiency, combined exocrine
Hypoproteinemia, Congestive heart failure OMIM:260450
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Macroorchidism, Abnormality of female external genitalia, Increased circulating ACTH level, Decre... ORPHA:90790
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Absent brainstem auditory responses, Sensorineural hearing impairment, EEG abnormality, Facial palsy OMIM:617519
Autosomal Agammaglobulinemia
Conjunctivitis, Osteomyelitis, Recurrent respiratory infections, Bronchiectasis, Hepatitis, Skin ... ORPHA:33110
Type 1 Diabetes Mellitus
Hyperglycemia, Diabetes mellitus, Decreased level of 1,5 anhydroglucitol in serum OMIM:222100
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Bronchiectasis, Recurrent bronchitis, Recurrent sinusitis, Recurrent otitis media, Decreased spec... OMIM:300853
Ciliary Dyskinesia, Primary, 16
Bronchiectasis, Chronic sinusitis, Chronic rhinitis, Abnormal ciliary motility, Chronic otitis me... OMIM:614017
Citrullinemia Type Ii
Acute hyperammonemia, Hypoproteinemia, Decreased HDL cholesterol concentration, Hyperlipidemia, H... ORPHA:247585
Dengue Fever
Hypotension, Cerebral hemorrhage, Epistaxis, Hypoproteinemia, Gastrointestinal hemorrhage ORPHA:99828
Congenital Analbuminemia
Low pulse pressure, Increased alpha-globulin, Hypoproteinemia, Hyperlipidemia, Hypercholesterolem... ORPHA:86816
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Atrophic gastritis, Crohn's disease, Decreased circulating total IgM, Bronchiectasis, Decreased c... OMIM:616100
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction
Hyperglycemia, Elevated hemoglobin A1c, Maturity-onset diabetes of the young OMIM:609812
Congenital Disorder Of Glycosylation, Type Iic
Recurrent otitis media, Bronchiolitis, Pneumonia, Periodontitis OMIM:266265
Hemophagocytic Lymphohistiocytosis, Familial, 1
Increased total bilirubin, Increased VLDL cholesterol concentration, Increased LDL cholesterol co... OMIM:267700
Staphylococcal Necrotizing Pneumonia
Pneumothorax, Pleural empyema, Hypoxemia, Respiratory distress, Tachypnea, Pleural effusion, Pulm... ORPHA:36238
Normosmic Congenital Hypogonadotropic Hypogonadism
Primary amenorrhea, Female hypogonadism, Impotence, Secondary amenorrhea, Decreased testicular si... ORPHA:432
Agammaglobulinemia 1, Autosomal Recessive
Conjunctivitis, Panhypogammaglobulinemia, Recurrent respiratory infections, Bronchiectasis, Decre... OMIM:601495
Lymphangiectasia, Intestinal
Neonatal hypoproteinemia OMIM:152800
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Abnormal auditory evoked potentials, Progressive sensorineural hearing impairment, Optic atrophy OMIM:125250
Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant
Decreased circulating total IgM, Bronchiectasis, Asthma, Cutaneous abscess, Chronic mucocutaneous... OMIM:619752
Nephrotic Syndrome, Type 1
Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia OMIM:256300
Hyper-Ige Recurrent Infection Syndrome 4B, Autosomal Recessive
Bronchiectasis, Eczema, Recurrent otitis media, Keratitis, Recurrent respiratory infections, Incr... OMIM:618523
Infantile Osteopetrosis With Neuroaxonal Dysplasia
Pneumonia ORPHA:85179
Autosomal Recessive Spastic Paraplegia Type 26
Premature ovarian insufficiency, Decreased serum testosterone concentration ORPHA:101006
Aspergillosis
Osteomyelitis, Bronchiectasis, Asthma, Hepatitis, Pleuritis, Abnormality on pulmonary function te... ORPHA:1163
Adenohypophysitis
Increased circulating prolactin concentration, Abnormal size of pituitary gland, Gonadotropin def... ORPHA:95512
Lipodystrophy, Familial Partial, Type 3
Hyperinsulinemia, Hyperuricemia, Type II diabetes mellitus, Maternal diabetes, Insulin resistance... OMIM:604367
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Aspiration pneumonia, Dyspnea, Cough, Respiratory failure, Respiratory failure requiring assisted... ORPHA:90117
Combined Immunodeficiency Due To Zap70 Deficiency
Lymphadenitis, Recurrent bacterial skin infections, Recurrent mycobacterial infections, Recurrent... ORPHA:911
Immunodeficiency 60 And Autoimmunity
Crohn's disease, Decreased circulating total IgM, Bronchiectasis, Recurrent sinopulmonary infecti... OMIM:618394
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Hypoproteinemia ORPHA:1116
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Ambiguous genitalia, Decreased circulating aldosterone level, Ambiguous genitalia, female, Decrea... ORPHA:90794
Severe Acute Respiratory Syndrome
Hypoxemia, Respiratory distress, Dyspnea, Cough, Respiratory failure requiring assisted ventilati... ORPHA:140896
Charcot-Marie-Tooth Disease, Type 4D
Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Hearing impairment OMIM:601455
Ciliary Dyskinesia, Primary, 38
Rhinitis, Decreased nasal nitric oxide, Bronchiectasis, Productive cough, Immotile cilia, Chronic... OMIM:618063
Diabetes Mellitus, Permanent Neonatal, 3
Glycosuria, Interictal epileptiform activity, Type I diabetes mellitus, Hyperglycemia OMIM:618857
Panbronchiolitis, Diffuse
Bronchiectasis, Rhonchi, Hypoxemia, Crackles, Cough, Wheezing OMIM:604809
Johanson-Blizzard Syndrome
Diabetes mellitus, Hypoproteinemia, Sensorineural hearing impairment ORPHA:2315
47,Xyy Syndrome
Macroorchidism, Increased serum testosterone level, Azoospermia, Oligospermia, Increased circulat... ORPHA:8
49,Xyyyy Syndrome
Primary gonadal insufficiency, Abnormality of the testis size, External genital hypoplasia, Decre... ORPHA:99330
Estrogen Resistance
Increased serum estradiol, Hyperinsulinemia, Polycystic ovaries, Delayed puberty, Hypoplasia of t... OMIM:615363
Ménétrier Disease
Hypoproteinemia, Gastrointestinal hemorrhage, Hypoalbuminemia ORPHA:2494
Panhypophysitis
Increased circulating prolactin concentration, Abnormal size of pituitary gland, Gonadotropin def... ORPHA:95513
Hereditary Pulmonary Alveolar Proteinosis
Hypoxemia, Respiratory distress, Tachypnea, Crackles, Restrictive ventilatory defect, Cough, Craz... ORPHA:264675
Ciliary Dyskinesia, Primary, 2
Bronchiectasis, Immotile cilia, Respiratory distress, Sinusitis, Otitis media, Recurrent respirat... OMIM:606763
Nephrotic Syndrome, Type 22
Hypoproteinemia OMIM:619155
X-Linked Centronuclear Myopathy
Respiratory failure requiring assisted ventilation, Pneumonia, Respiratory distress, Recurrent re... ORPHA:596
Frasier Syndrome
Gonadoblastoma, Decreased serum estradiol, Ambiguous genitalia, male, Increased circulating gonad... ORPHA:347
Congenital Disorder Of Glycosylation, Type Ij
Hypsarrhythmia, Hypoproteinemia OMIM:608093
Autosomal Dominant Severe Congenital Neutropenia
Recurrent ear infections, Recurrent aphthous stomatitis, Rhinitis, Periodontitis, Recurrent sinop... ORPHA:486
Immunodeficiency 58
Chronic bronchitis, Bronchiectasis, Eczema, Recurrent cutaneous abscess formation, Colitis, Onych... OMIM:618131
Mohr-Tranebjaerg Syndrome
Postlingual sensorineural hearing impairment, Sensorineural hearing impairment, Prelingual sensor... ORPHA:52368
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Hyperglycemia, Optic disc pallor OMIM:618970
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Adrenocorticotropic hormone excess, Decreased circulating aldosterone level, Decreased circulatin... ORPHA:289548
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Pulmonary embolism, Hypoproteinemia, Budd-Chiari syndrome, Hypoalbuminemia OMIM:226300
Ane Syndrome
Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation test, Abnormal re... ORPHA:157954
Essential Fructosuria
Hyperglycemia ORPHA:2056
Refractory Celiac Disease
Hypophosphatemia, Hypoproteinemia, Hypocalcemia, Hypomagnesemia, Hypoalbuminemia ORPHA:398063
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Adrenocorticotropic hormone excess, Decreased circulating aldosterone level, Decreased circulatin... ORPHA:168558
Tularemia
Conjunctivitis, Erythema nodosum, Increased circulating antibody level, Skin rash, Inflammatory a... ORPHA:3392
Ciliary Dyskinesia, Primary, 1
Bronchiectasis, Immotile cilia, Recurrent bronchitis, Chronic sinusitis, Chronic rhinitis, Chroni... OMIM:244400
Sarcoidosis, Susceptibility To, 2
Pulmonary arterial hypertension, Abnormal pulmonary interstitial morphology, Pneumothorax, Bronch... OMIM:612387
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Hyperglycemia, Hyperinsulinemia, Hyperlipidemia ORPHA:329249
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Lymphadenitis, Sepsis, Chronic bronchitis, Bronchiectasis, Recurrent sinusitis, Chronic pulmonary... OMIM:618986
Leukoencephalopathy With Vanishing White Matter 1
Primary gonadal insufficiency, Decreased circulating progesterone, Secondary amenorrhea, Prematur... OMIM:603896
Maternal Uniparental Disomy Of Chromosome 6
Increased serum testosterone level, Hydrocele testis, Eczema, Congenital adrenal hyperplasia, Cli... ORPHA:96181
Thymic Aplasia
Recurrent candida infections, Chronic oral candidiasis, Recurrent Staphylococcus aureus infection... ORPHA:83471
Allergic Bronchopulmonary Aspergillosis
Respiratory insufficiency, Pulmonary arterial hypertension, Bronchiectasis, Asthma, Emphysema, Cough ORPHA:1164
Selective Igm Deficiency
Recurrent vulvovaginal candidiasis, Bronchiectasis, Fasciitis, Recurrent sinusitis, Recurrent sta... ORPHA:331235
Acquired Aneurysmal Subarachnoid Hemorrhage
Cognitive impairment, Ischemic stroke, Cerebral hemorrhage, Cerebral ischemia, Syncope, ST segmen... ORPHA:90065
Mody
Transient neonatal diabetes mellitus, Diabetic ketoacidosis, Glycosuria, Glucose intolerance, Neo... ORPHA:552
Lipodystrophy, Familial Partial, Type 1
Hyperglycemia, Hypertriglyceridemia, Hypertension, Insulin-resistant diabetes mellitus OMIM:608600
Whim Syndrome
Lymphadenitis, Respiratory tract infection, Sepsis, Bronchiectasis, Decreased circulating antibod... ORPHA:51636
Combined Oxidative Phosphorylation Deficiency 51
Respiratory failure, Aspiration pneumonia, Neonatal respiratory distress OMIM:619057
Avian Influenza
Conjunctivitis, Myelitis, Pneumothorax, Productive cough, Hepatitis, Hypoxemia, Respiratory distr... ORPHA:454836
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Abnormal cranial nerve morphology, Prolonged brainstem... OMIM:601596
Hemophagocytic Lymphohistiocytosis, Familial, 2
Increased total bilirubin, Increased circulating ferritin concentration, Hypoproteinemia, Hyponat... OMIM:603553
46,Xx Gonadal Dysgenesis
Decreased fertility, Ambiguous genitalia, Decreased serum estradiol, Secondary amenorrhea, Premat... ORPHA:243
Nephronophthisis-Like Nephropathy 2
Recurrent respiratory infections, Cough, Bronchiectasis OMIM:619468
Müllerian Aplasia And Hyperandrogenism
Increased serum testosterone level, Abnormality of the ovary, Hypoplasia of the uterus, Primary a... ORPHA:247768
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Recurrent aphthous stomatitis, Chronic oral candidiasis, Bronchiectasis, Recurrent pneumonia, Rec... OMIM:150550
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Congestive heart failure, Dilated cardiomyopathy, Elevated circulating creatine kinase concentrat... OMIM:615895
T-Cell Immunodeficiency With Thymic Aplasia
Bronchiectasis, Pyoderma, Recurrent bronchopulmonary infections, Emphysema, Recurrent pneumonia, ... OMIM:242700
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Hyperinsulinemia, Diabetic ketoacidosis, Hypoglycemia, Postprandial hyperglycemia, Insulin-resist... OMIM:262190
Combined Immunodeficiency Due To Crac Channel Dysfunction
Recurrent fungal infections, Recurrent mycobacterial infections, Recurrent bacterial infections, ... ORPHA:169090
Immunodeficiency 27A
Abnormal bronchus physiology, Increased inflammatory response, Increased circulating IgM level, S... OMIM:209950
Abcd Syndrome
Aganglionic megacolon, Total intestinal aganglionosis, Hearing impairment, Abnormal auditory evok... OMIM:600501
Alg6-Cdg
Increased circulating androgen concentration, Puberty and gonadal disorders ORPHA:79320
Perrault Syndrome 4
Decreased serum estradiol, Bicornuate uterus, Premature ovarian insufficiency, Secondary amenorrh... OMIM:615300
Abdominal Obesity-Metabolic Syndrome 3
Type II diabetes mellitus, Hypertension, Myocardial infarction, Increased LDL cholesterol concent... OMIM:615812
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Primary amenorrhea, Primary gonadal insufficiency, Impotence, Aplasia of the ovary, Decreased ser... ORPHA:2232
Surfactant Metabolism Dysfunction, Pulmonary, 3
Desquamative interstitial pneumonitis, Absent bronchoalveolar surfactant-protein C, Paraseptal em... OMIM:610921
Timothy Syndrome
Bronchitis, Pneumonia, Recurrent infections OMIM:601005
Cln3 Disease
Increased circulating androgen concentration, Acne ORPHA:228346
Primary Intestinal Lymphangiectasia
Hypocalcemia, Hypoproteinemia, Hypomagnesemia, Hypoalbuminemia ORPHA:90362
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Hyperglycemia, Hyperlipidemia, Mildly elevated creatine kinase OMIM:604484
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Decreased circulating total IgM, Inflammatory abnormality of the skin, Asthma, Skin rash, Decreas... OMIM:102700
Retinitis Pigmentosa 82 With Or Without Situs Inversus
Decreased nasal nitric oxide, Recurrent infections, Bronchiectasis, Productive cough OMIM:615434
Riddle Syndrome
Bronchitis, Abnormal pulmonary interstitial morphology, Decreased circulating total IgM, Arthriti... ORPHA:420741
Fusariosis
Onychomycosis, Maculopapular exanthema, Osteomyelitis, Bronchiectasis, Productive cough, Arthriti... ORPHA:228119
Yellow Nail Syndrome
Pulmonary arterial hypertension, Rhinitis, Bronchiectasis, Pleuritis, Sinusitis, Dyspnea, Cough, ... ORPHA:662
Mccune-Albright Syndrome
Decreased fertility, Irregular menstruation, Increased circulating prolactin concentration, Preco... ORPHA:562
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Ambiguous genitalia, Decreased circulating dehydroepiandrosterone-sulfate concentration, Decrease... ORPHA:95699
45,X/46,Xy Mixed Gonadal Dysgenesis
Hypothyroidism, Ambiguous genitalia, Gonadoblastoma, Ambiguous genitalia, female, Increased circu... ORPHA:1772
Familial Glucocorticoid Deficiency
Leydig cell neoplasia, Precocious puberty, Decreased circulating aldosterone level, Testicular ad... ORPHA:361
Chronic Bilirubin Encephalopathy
Sensorineural hearing impairment, Abnormal auditory evoked potentials, Neonatal hyperbilirubinemi... ORPHA:529808
Acute Bilirubin Encephalopathy
Sensorineural hearing impairment, Abnormal auditory evoked potentials, Neonatal hyperbilirubinemi... ORPHA:529799
Chédiak-Higashi Syndrome
Cognitive impairment, Dementia, Epistaxis, Increased circulating ferritin concentration, Hypoprot... ORPHA:167
Purine Nucleoside Phosphorylase Deficiency
Recurrent opportunistic infections, Recurrent urinary tract infections, Recurrent bacterial infec... OMIM:613179
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Chronic bronchitis, Bronchiectasis, Sinusitis, Decreased circulating IgA level, Increased circula... OMIM:242860
Familial Renal Glucosuria
Glycosuria, Insulin resistance, Elevated hemoglobin A1c, Hyperglycemia, Abnormal oral glucose tol... ORPHA:69076
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Recurrent ear infections, Pulmonary hemorrhage, Panhypogammaglobulinemia, Recurrent aspiration pn... ORPHA:79124
Common Variable Immunodeficiency
Recurrent respiratory infections, Bronchiectasis, Decreased circulating antibody level, Recurrent... ORPHA:1572
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome
Decreased testicular size, Type I diabetes mellitus, Elevated circulating luteinizing hormone lev... ORPHA:3044
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency
Pulmonary arterial hypertension, Abnormal pulmonary interstitial morphology, Intraalveolar phosph... ORPHA:217563
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Low-set ears, Hypocalcemia, Hypoproteinemia OMIM:235255
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Interstitial pneumonitis, Sepsis ORPHA:231154
Woodhouse-Sakati Syndrome
Hypothyroidism, Hyperinsulinemia, Abnormal spermatogenesis, Decreased response to growth hormone ... ORPHA:3464
Cleft Velum
Aspiration pneumonia, Recurrent otitis media ORPHA:99772
Sporadic Creutzfeldt-Jakob Disease
Respiratory failure requiring assisted ventilation, Sepsis, Recurrent infections, Recurrent aspir... ORPHA:204
Meconium Aspiration Syndrome
Pulmonary arterial hypertension, Aspiration pneumonia, Pneumothorax, Hypoxemia, Respiratory distr... ORPHA:70588
Slc35A1-Cdg
Pulmonary hemorrhage, Pneumonia, Hypoxemia, Respiratory distress ORPHA:238459
Primary Ciliary Dyskinesia
Recurrent mycobacterial infections, Respiratory tract infection, Respiratory failure, Bronchiecta... ORPHA:244
Bacterial Toxic-Shock Syndrome
Septic arthritis, Myocarditis, Respiratory tract infection, Osteomyelitis, Recurrent urinary trac... ORPHA:36234
Acute Interstitial Pneumonia
Nodular pattern on pulmonary HRCT, Bronchiectasis, Subpleural honeycombing, Peribronchovascular i... ORPHA:79126
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Abnormal size of pituitary gland, Decreased response to growth hormone stimulation test, Bronchie... ORPHA:293978
Acrocraniofacial Dysostosis
Abnormal auditory evoked potentials, Conductive hearing impairment, Sensorineural hearing impairment OMIM:201050
Immunodeficiency 92
Osteomyelitis, Sclerosing cholangitis, Esophagitis, Cholangitis, Decreased circulating IgA level,... OMIM:619652
Symptomatic Form Of Hemochromatosis Type 1
Hypothyroidism, Arthritis, Infertility, Erectile dysfunction, Testicular atrophy, Diabetes mellit... ORPHA:465508
Late-Infantile/Juvenile Krabbe Disease
EEG with persistent abnormal rhythmic activity, Prolonged brainstem auditory evoked potentials, D... ORPHA:206443
Aarskog-Scott Syndrome
Shawl scrotum, Bilateral cryptorchidism, Decreased serum testosterone concentration, Testicular a... OMIM:305400
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Crusting erythematous dermatitis, Eczema, Myositis, Gastritis, Colitis, Recurrent skin infections... ORPHA:37042
Spastic Paraplegia 26, Autosomal Recessive
Decreased serum testosterone concentration OMIM:609195
Pulmonary Non-Tuberculous Mycobacterial Infection
Pneumothorax, Bronchiectasis, Respiratory distress, Chronic pulmonary obstruction, Pleural effusi... ORPHA:411703
Graft Versus Host Disease
Maculopapular exanthema, Inflammatory abnormality of the skin, Arthritis, Inflammatory abnormalit... ORPHA:39812
Good Syndrome
Bronchiectasis, Decreased circulating antibody level, Recurrent urinary tract infections, Dyspnea... ORPHA:169105
Congenital Tracheomalacia
Respiratory insufficiency, Pneumothorax, Bronchiectasis, Productive cough, Pulmonary hypoplasia, ... ORPHA:95430
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Abnormal auditory evoked potentials, Optic disc pallor OMIM:617523
Adult Krabbe Disease
Prolonged brainstem auditory evoked potentials, Progressive neurologic deterioration, EEG abnorma... ORPHA:206448
Ovarian Hyperstimulation Syndrome
Hemorrhagic ovarian cyst, Increased serum testosterone level, Enlarged polycystic ovaries, Increa... ORPHA:64739
Infantile Krabbe Disease
Optic atrophy, Psychomotor deterioration, Abnormal heart rate variability, Decreased nerve conduc... ORPHA:206436
Immunodeficiency 40
Respiratory tract infection, Chronic oral candidiasis, Interstitial pneumonitis, Recurrent otitis... OMIM:616433
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Desquamative interstitial pneumonitis, Decreased circulating antibody level, Interstitial pneumon... OMIM:615952
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Panhypogammaglobulinemia, Recurrent otitis media, Recurrent upper respiratory tract infections, P... OMIM:600802
Bronchogenic Cyst
Abnormal pleura morphology, Pneumonia, Dyspnea, Cough, Bronchogenic cyst, Pulmonary cyst, Atelect... ORPHA:2357
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Low-set ears, Hypocalcemia, Hypoproteinemia ORPHA:1655
Woodhouse-Sakati Syndrome
Elevated circulating thyroid-stimulating hormone concentration, Premature ovarian insufficiency, ... OMIM:241080
Car T Cell Therapy-Associated Cytokine Release Syndrome
Increased circulating interleukin 6 concentration, Pulmonary edema, Abnormality of serum cytokine... ORPHA:542323
Progeria-Short Stature-Pigmented Nevi Syndrome
Decreased serum estradiol, Premature ovarian insufficiency, Hypospadias, Delayed puberty, Hypergo... ORPHA:2959
Ciliary Dyskinesia, Primary, 37
Chronic rhinitis, Rhinorrhea, Wheezing, Bronchiectasis OMIM:617577
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Panhypogammaglobulinemia, Recurrent upper respiratory tract infections, Otitis media, Pneumonia, ... OMIM:602450
Nocardiosis
Pneumothorax, Scleritis, Productive cough, Pericarditis, Pleural effusion, Pneumonia, Nonproducti... ORPHA:31204
Insulin-Resistance Syndrome Type B
Hyperinsulinemia, Increased serum testosterone level, Enlarged polycystic ovaries, Diabetic ketoa... ORPHA:2298
Immunodeficiency 36 With Lymphoproliferation
Bronchiectasis, Recurrent bacterial infections, Recurrent upper respiratory tract infections, Dec... OMIM:616005
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:109120
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Abnormal auditory evoked potentials, Optic disc pallor, Sensorineural hearing impairment OMIM:619260
Congenital Cataracts, Facial Dysmorphism, And Neuropathy
Decreased serum estradiol, Decreased testicular size, Hypergonadotropic hypogonadism, Primary ame... OMIM:604168
Lymphoid Interstitial Pneumonia
Respiratory tract infection, Subpleural interstitial thickening, Bronchiectasis, Rheumatoid arthr... ORPHA:79128
Omenn Syndrome
Recurrent bacterial infections, Erythroderma, Recurrent viral infections, Pneumonia, Recurrent fu... OMIM:603554
Rabson-Mendenhall Syndrome
Hypothyroidism, Precocious puberty, Increased serum testosterone level, Diabetic ketoacidosis, Lo... ORPHA:769
Pgm3-Cdg
Bronchiectasis, Eczema, Recurrent skin infections, Recurrent viral infections, Atopic dermatitis,... ORPHA:443811
Adult-Onset Autosomal Dominant Leukodystrophy
Sensorineural hearing impairment, Abnormality of somatosensory evoked potentials, Cognitive impai... ORPHA:99027
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked
Bronchiectasis, Increased circulating interleukin 8 concentration, Recurrent pneumonia, Colitis, ... OMIM:301220
Omenn Syndrome
Thyroiditis, Pneumonia, Sepsis, Erythroderma ORPHA:39041
Bloom Syndrome
Bronchitis, Respiratory tract infection, Rhinitis, Decreased circulating total IgM, Decreased cir... ORPHA:125
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Absent brainstem auditory responses, Increased circulating ferritin concentration, Vestibular are... ORPHA:3240
Sweet Syndrome
Oligoarthritis, Increased circulating interleukin 6 concentration, Abnormality of tumor necrosis ... ORPHA:3243
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Decreased testicular size, Hypogonadism, Decreased serum testosterone concentration OMIM:201100
Alpha-Mannosidosis, Adult Form
Pneumonia, Recurrent infections, Recurrent gastroenteritis ORPHA:309288
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3
Pneumonia OMIM:608033
Leukocyte Adhesion Deficiency
Perianal abscess, Bronchiectasis, Recurrent staphylococcal infections, Glomerulonephritis, Lympho... ORPHA:2968
Charcot-Marie-Tooth Disease Type 1F
Cognitive impairment, Sensorineural hearing impairment, Absent brainstem auditory responses, Opti... ORPHA:101085
Mitochondrial Complex Iii Deficiency, Nuclear Type 6
Hyperglycemia, Hypoglycemia, Hyperammonemia, Progressive neurologic deterioration OMIM:615453
Congenital Multicore Myopathy With External Ophthalmoplegia
Respiratory failure, Pneumonia, Abnormal respiratory system physiology, Recurrent respiratory inf... ORPHA:98905
Drug Reaction With Eosinophilia And Systemic Symptoms
Tubulointerstitial nephritis, Hepatitis, Skin rash, Thyroiditis, Interstitial pneumonitis, Pustul... ORPHA:139402
Cole Disease
Abnormal blood phosphate concentration, Hyperglycemia OMIM:615522
Mitochondrial Complex I Deficiency, Nuclear Type 33
Respiratory insufficiency, Apnea, Aspiration pneumonia, Bronchiectasis OMIM:618253
Meningioma
Enlarged pituitary gland, Decreased circulating follicle stimulating hormone concentration, Incre... ORPHA:2495
Orofaciodigital Syndrome Viii
Recurrent aspiration pneumonia OMIM:300484
Arthrogryposis, Distal, Type 2A
Abnormal auditory evoked potentials, Hearing impairment OMIM:193700
Liver Disease, Severe Congenital
Systolic heart murmur, Hyperalaninemia, Elevated hepatic iron concentration, Hyperbilirubinemia, ... OMIM:619991
Q Fever
Endocarditis, Abnormal pulmonary interstitial morphology, Myocarditis, Osteomyelitis, Maculopapul... ORPHA:781
Macrophage Activation Syndrome
Increased circulating interleukin 6 concentration, Abnormality of tumor necrosis factor secretion... ORPHA:158061
Postinfectious Vasculitis
Recurrent mycobacterial infections, Bacterial endocarditis, Inflammatory abnormality of the skin,... ORPHA:48435
Bronchial Neuroendocrine Tumor
Abnormal pulmonary interstitial morphology, Asthma, Bronchospasm, Dyspnea, Pneumonia, Nonproducti... ORPHA:97287
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Restrictive ventilatory defect, Pneumonia OMIM:253700
Dend Syndrome
Thickened ears, Hypsarrhythmia, Elevated hemoglobin A1c, Hyperglycemia ORPHA:79134
Mucoepithelial Dysplasia, Hereditary
Keratoconjunctivitis, Fibrocystic lung disease, Chronic mucocutaneous candidiasis, Recurrent pneu... OMIM:158310
Immunodeficiency 82 With Systemic Inflammation
Bronchitis, Crohn's disease, Osteomyelitis, Decreased circulating total IgM, Bronchiectasis, Hepa... OMIM:619381
Familial Hemophagocytic Lymphohistiocytosis
Increased circulating interleukin 6 concentration, Abnormality of tumor necrosis factor secretion... ORPHA:540
Cockayne Syndrome Type 1
Macrotia, Abnormality of peripheral nerve conduction, Optic atrophy, Absent brainstem auditory re... ORPHA:90321
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Ambiguous genitalia, Vesicovaginal fistula, Adrenal insufficiency, Decreased circulating renin le... OMIM:201750
Juvenile Neuronal Ceroid Lipofuscinosis
Apnea, Aspiration pneumonia, Episodic tachypnea ORPHA:79264
Combined Immunodeficiency With Faciooculoskeletal Anomalies
Recurrent ear infections, Decreased circulating total IgM, Recurrent aspiration pneumonia, Decrea... ORPHA:221139
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Hypoventilation, Aspiration pneumonia, Respiratory distress, Apnea, Recurrent pneumonia ORPHA:314655
Leukodystrophy, Hypomyelinating, 13
Prolonged brainstem auditory evoked potentials, Optic atrophy OMIM:616881
Sheehan Syndrome
Abnormal size of pituitary gland, Gonadotropin deficiency, Impotence, Decreased serum estradiol, ... ORPHA:91355
Roifman-Chitayat Syndrome
Arthritis, Pneumonia OMIM:613328
Pseudoleprechaunism Syndrome, Patterson Type
Diabetes mellitus, Increased circulating androgen concentration, Premature adrenarche ORPHA:2976
Brucellosis
Sacroiliac arthritis, Septic arthritis, Hip osteoarthritis, Pericarditis, Glomerulonephritis, Ple... ORPHA:1304
Pierson Syndrome
Retinal hemorrhage, Hypoproteinemia, Hypertension OMIM:609049
Listeriosis
Endocarditis, Septic arthritis, Myocarditis, Conjunctivitis, Osteomyelitis, Infectious encephalit... ORPHA:533
Cushing Syndrome Due To Ectopic Acth Secretion
Pituitary corticotropic cell adenoma, Atypical pulmonary carcinoid tumor, Adrenal hyperplasia, Pa... ORPHA:99889
Cerebrotendinous Xanthomatosis
Cognitive impairment, Abnormality of somatosensory evoked potentials, Optic atrophy, Abnormal aud... ORPHA:909
Spondyloenchondrodysplasia
Juvenile rheumatoid arthritis, Hepatitis, Arthritis, Skin rash, Recurrent infections, Pneumonia ORPHA:1855
Infection-Related Hemolytic Uremic Syndrome
Septic arthritis, Myocarditis, Respiratory tract infection, Increased circulating interleukin 6 c... ORPHA:544482
Shigellosis
Conjunctivitis, Myocarditis, Arthritis, Ulcerative colitis, Uveitis, Peritonitis, Pneumonia, Acut... ORPHA:810
Hereditary Bullous Dystrophy, Macular Type
Pneumonia ORPHA:1867
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Sensorineural hearing impairment, Abnormal autonomic nervous system physiology, Aganglionic megac... OMIM:609136
Atrial Septal Defect, Coronary Sinus Type
Pulmonary arterial hypertension, Exertional dyspnea, Increased pulmonary vascular resistance, Ano... ORPHA:99104
Spondyloenchondrodysplasia With Immune Dysregulation
Juvenile rheumatoid arthritis, Rheumatoid arthritis, Recurrent sinusitis, Recurrent otitis media,... OMIM:607944
Juvenile Polyposis Syndrome
Pulmonary arterial hypertension, Mucosal telangiectasiae, Transient ischemic attack, Spontaneous,... ORPHA:2929
Coccidioidomycosis
Osteomyelitis, Pleural empyema, Folliculitis, Erythema nodosum, Skin rash, Arthritis, Morbillifor... ORPHA:228123
Malakoplakia
Inflammatory abnormality of the skin, Skin rash, Abnormality of the menstrual cycle, Urinary blad... ORPHA:556
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency
Central sleep apnea, Aspiration pneumonia, Pancreatitis ORPHA:431361
Lymphatic Filariasis
Vaginal hydrocele, Lymphadenitis, Abnormality of the scrotum, Hydrocele testis, Epididymitis, Glo... ORPHA:2035
Cockayne Syndrome A
Sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials, Hypertensio... OMIM:216400
Proximal Spinal Muscular Atrophy
Respiratory failure, Hypoventilation, Recurrent aspiration pneumonia, Recurrent infections due to... ORPHA:70
Classic Pantothenate Kinase-Associated Neurodegeneration
Aspiration pneumonia, Cough ORPHA:216866
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Skin rash, Pneumonia, Sepsis ORPHA:247691
Trisomy 10P
Macrotia, Low voltage EEG, EEG with burst suppression, EEG with focal spikes, Abnormal auditory e... ORPHA:171929
Zygomycosis
Pneumothorax, Fasciitis, Pericarditis, Pleural effusion, Gastritis, Colitis, Endocarditis, Entero... ORPHA:73263
Atrial Septal Defect, Ostium Secundum Type
Pulmonary arterial hypertension, Exertional dyspnea, Breathing dysregulation, Increased pulmonary... ORPHA:99103
Mend Syndrome
Abnormal auditory evoked potentials, Elevated 8(9)-cholestenol, Elevated 8-dehydrocholesterol, Ao... ORPHA:401973
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Decreased fertility, Decreased circulating progesterone, Streak ovary, Decreased serum estradiol,... ORPHA:572333
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Conjunctivitis, Skin rash, Fasciitis, Arthritis, Uveitis, Erysipelas, Pericarditis, Myositis, Orc... ORPHA:32960
Mirage Syndrome
Recurrent bacterial infections, Aspiration pneumonia, Sepsis, Recurrent urinary tract infections OMIM:617053
Mogs-Cdg
Absent brainstem auditory responses, Sensorineural hearing impairment, Optic atrophy ORPHA:79330
Psoriasis-Related Juvenile Idiopathic Arthritis
Sacroiliac arthritis, Malar rash, Oligoarthritis, Abnormality of tumor necrosis factor secretion,... ORPHA:85436
Cockayne Syndrome B
Sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials, Hypertensio... OMIM:133540
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Aspiration pneumonia, Tracheobronchial leiomyomatosis, Dyspnea, Cough, Keratitis, Recurrent respi... ORPHA:1018
Gm1 Gangliosidosis
Infectious encephalitis, Recurrent respiratory infections, Aspiration pneumonia ORPHA:354
Aicardi-Goutieres Syndrome 7
Atrophic gastritis, Increased circulating antibody level, Skin rash, Arthritis, Hepatitis, Chilbl... OMIM:615846
Gaucher Disease, Type Ii
Recurrent aspiration pneumonia, Apnea, Cough, Stridor, Bronchiolitis OMIM:230900
Steinert Myotonic Dystrophy
Decreased fertility, Hyperinsulinemia, Decreased response to growth hormone stimulation test, Imp... ORPHA:273
Cystic Fibrosis
Bronchiectasis, Asthma, Recurrent bronchopulmonary infections, Chronic sinusitis, Reduced forced ... OMIM:219700
Infantile Neuroaxonal Dystrophy
Apneic episodes in infancy, Aspiration pneumonia ORPHA:35069
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome
Absent scrotum, Absence of labia majora, Hypoplastic labia minora, Keratoconjunctivitis sicca, De... ORPHA:495875
Robinow Syndrome
External genital hypoplasia, Webbed penis, Hypoplastic labia majora, Clitoral hypoplasia, Decreas... ORPHA:97360
Bickerstaff Brainstem Encephalitis
Respiratory tract infection, Recurrent gastroenteritis, Hypercapnia, Dyspnea, Respiratory failure... ORPHA:79138
Mercury Poisoning
Respiratory failure, Interstitial pneumonitis, Dyspnea, Respiratory distress ORPHA:330021
Cystic Fibrosis
Pneumothorax, Recurrent Haemophilus influenzae infections, Bronchiectasis, Recurrent Staphylococc... ORPHA:586
Hemorrhagic Fever-Renal Syndrome
Tubulointerstitial nephritis, Increased circulating interleukin 6 concentration, Acute tubulointe... ORPHA:340
Shwachman-Diamond Syndrome
Osteomyelitis, Skin rash, Eczema, Recurrent bacterial infections, Sinusitis, Recurrent viral infe... ORPHA:811
Familial Mediterranean Fever
Crohn's disease, Arthritis, Erysipelas, Pericarditis, Orchitis, Peritonitis OMIM:249100
Geleophysic Dysplasia 3
Respiratory failure, Sleep apnea, Pneumonia, Dyspnea OMIM:617809
Familial Mediterranean Fever
Skin rash, Arthritis, Erysipelas, Pericarditis, Orchitis, Peritonitis, Pancreatitis, Osteoarthritis ORPHA:342
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia
Recurrent pneumonia, Recurrent aspiration pneumonia OMIM:300472
Severe Generalized Junctional Epidermolysis Bullosa
Pneumothorax, Recurrent urinary tract infections, Pyoderma, Gastrointestinal inflammation, Respir... ORPHA:79404
Behçet Disease
Endocarditis, Recurrent aphthous stomatitis, Arthritis, Keratoconjunctivitis sicca, Pericarditis,... ORPHA:117
Ectodermal Dysplasia And Immunodeficiency 2
Recurrent respiratory infections, Defective production of NFKB1-dependent cytokines, Recurrent in... OMIM:612132
X-Linked Dystonia-Parkinsonism
Aspiration pneumonia ORPHA:53351
Immunoglobulin A Vasculitis
Skin rash, Arthritis, Pustule, Episcleritis, Infectious encephalitis, Orchitis ORPHA:761
Arnold-Chiari Malformation Type Ii
Apnea, Pneumonia, Inspiratory stridor ORPHA:1136
Alpha-Mannosidosis, Infantile Form
Recurrent urinary tract infections, Recurrent gastroenteritis, Recurrent infections, Otitis media... ORPHA:309282
Hennekam-Beemer Syndrome
Respiratory insufficiency, Pneumonia ORPHA:2135
Mucopolysaccharidosis, Type Vi
Pulmonary arterial hypertension, Restrictive ventilatory defect, Recurrent upper respiratory trac... OMIM:253200
Chops Syndrome
Aspiration pneumonia, Anomalous pulmonary venous return, Sleep apnea, Tracheomalacia, Chronic lun... OMIM:616368
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Aspiration pneumonia OMIM:619167
Mucopolysaccharidosis Type 3
Respiratory tract infection, Aspiration pneumonia, Recurrent sinopulmonary infections, Upper airw... ORPHA:581
Lissencephaly Due To Lis1 Mutation