banner
Genes Phenotypes Help, News, Blog

Gene: Scara5 MGI:1918395

Log in to follow
Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
scavenger receptor class A, member 5
Synonyms:
4933425F03Rik,  4932433F15Rik

Order Alleles

IMPC Data Collections

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

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.

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 Scara5 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 Scara5 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Immunodeficiency 51
Recurrent respiratory infections, Recurrent skin infections, Eczema, Pneumonia, Pustule, Chronic ... OMIM:613953
Acne Inversa, Familial, 3
Chronic furunculosis, Recurrent cutaneous abscess formation, Perifolliculitis, Acne inversa OMIM:613737
Complement Component C1S Deficiency
Hepatitis, Hashimoto thyroiditis, Systemic lupus erythematosus OMIM:613783
Interstitial Cystitis
Dyspareunia, Abnormal labia morphology, Abnormality of the menstrual cycle, Abnormality of the ur... ORPHA:37202
Interstitial Lung Disease 1
Nonspecific interstitial pneumonia, Crackles, Intralobular septal thickening, Cough, Dyspnea, Res... OMIM:619611
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Autoimmune hemolytic anemia, Autoimmunity, Autoimmune thrombocytopenia, Respiratory tract infecti... ORPHA:444463
Young Syndrome
Recurrent sinopulmonary infections, Bronchiectasis, Azoospermia, Congenital pulmonary airway malf... OMIM:279000
Acne Inversa, Familial, 1
Acne inversa OMIM:142690
Chilblain Lupus 2
Chilblains OMIM:614415
Immunodeficiency 53
Recurrent urinary tract infections, Skin rash, Asthma, Recurrent upper respiratory tract infectio... OMIM:617585
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Autoimmune hemolytic anemia, Eczema, Autoimmunity, Autoimmune thrombocytopenia, Desquamative inte... OMIM:615952
Complement Component C1R/C1S Deficiency
Autoimmunity, Discoid lupus rash, Arthritis, Nephritis, Recurrent bronchitis OMIM:216950
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Autoimmune hemolytic anemia, Autoimmunity, Splenomegaly, Neutropenia in presence of anti-neutropi... ORPHA:231154
C1Q Deficiency 3
Discoid lupus rash, Antinuclear antibody positivity OMIM:620322
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Recurrent respiratory infections, Hepatomegaly, Autoimmune hemolytic anemia, Recurrent urinary tr... OMIM:618495
Drug Reaction With Eosinophilia And Systemic Symptoms
Acute hepatic failure, Elevated hepatic transaminase, Renal insufficiency, Skin rash, Cough, Dysp... ORPHA:139402
Linear Atrophoderma Of Moulin
Pruritus, Inflammatory abnormality of the skin ORPHA:140933
Malakoplakia
Inflammatory abnormality of the skin, Skin rash, Dysuria, Proteinuria, Abnormality of the menstru... ORPHA:556
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive
Respiratory distress, Lymphocytic interstitial pneumonia, Decreased response to growth hormone st... OMIM:245590
Surfactant Metabolism Dysfunction, Pulmonary, 2
Respiratory distress, Reduced forced vital capacity, Tachypnea, Cough, Decreased DLCO, Bronchiect... OMIM:610913
Pneumocystosis
Multiple pulmonary cysts, Respiratory failure requiring assisted ventilation, Nonproductive cough... ORPHA:723
Complement Component 4B Deficiency
Chronic active hepatitis, Asthma, Recurrent pneumonia, Recurrent sinusitis, Recurrent otitis media OMIM:614379
Immunodeficiency 40
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Respiratory tract in... OMIM:616433
Dissecting Cellulitis Of The Scalp
Pruritus, Recurrent skin infections ORPHA:345
Chronic Beryllium Disease
Lymphocytic interstitial pneumonia, Dyspnea, Hypersensitivity pneumonitis, Abnormality on pulmona... ORPHA:133
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Hepatomegaly, Splenomegaly, Recurrent upper respiratory tract infections, Restrictive ventilatory... OMIM:620296
Benign Cephalic Histiocytosis
Inflammatory abnormality of the skin, Skin rash ORPHA:157997
Ciliary Dyskinesia, Primary, 41
Impaired nasal mucociliary clearance, Bronchiectasis, Infertility, Recurrent sinusitis, Immotile ... OMIM:618449
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Respiratory distress, Myositis, Anti-thyroid peroxidase antibody positivity, Tubulointerstitial n... ORPHA:37042
Lymphoid Interstitial Pneumonia
Lymphocytic interstitial pneumonia OMIM:247610
Hepatocellular Carcinoma
Hepatocellular carcinoma, Micronodular cirrhosis, Subacute progressive viral hepatitis OMIM:114550
Igg4-Related Kidney Disease
Rheumatoid factor positive, Lymphadenitis, Abnormal lung morphology, Renal interstitial immunoglo... ORPHA:449395
Ciliary Dyskinesia, Primary, 9
Male infertility, Neonatal respiratory distress, Pneumonia, Absent outer dynein arms, Bronchiecta... OMIM:612444
Immunodeficiency 104
Hepatomegaly, Pneumonia, Eczema, Splenomegaly, Chronic mucocutaneous candidiasis, Otitis media, R... OMIM:608971
Lymphoproliferative Syndrome, X-Linked, 2
Recurrent respiratory infections, Hepatomegaly, Acne, Recurrent skin infections, Erythema nodosum... OMIM:300635
Alpha-1-Antitrypsin Deficiency
Hepatomegaly, Jaundice, Hepatitis, Nephrotic syndrome, Emphysema, Hepatic failure ORPHA:60
Spermatogenic Failure, X-Linked, 6
Male infertility, Abnormality of male external genitalia, Recurrent pneumonia, Coiled sperm flage... OMIM:301101
Surfactant Metabolism Dysfunction, Pulmonary, 3
Respiratory distress, Apnea, Crazy paving pattern, Nodular pattern on pulmonary HRCT, Tachypnea, ... OMIM:610921
Bronchiolitis Obliterans With Obstructive Pulmonary Disease
Pneumonia, Autoimmunity, Reduced forced expiratory volume in one second, Respiratory tract infect... ORPHA:1303
Kerion Celsi
Recurrent cutaneous abscess formation, Inflammatory abnormality of the skin, Recurrent skin infec... ORPHA:499
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Recurrent sinopulmonary infections, Enterocolitis, Ulcerative colitis, Interstitial pneumonitis, ... OMIM:614878
Ciliary Dyskinesia, Primary, 44
Neonatal respiratory distress, Reduced forced expiratory volume in one second, Reduced forced vit... OMIM:618781
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency
Neonatal respiratory distress, Spontaneous neonatal pneumothorax, Tachypnea, Intraalveolar phosph... ORPHA:217563
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
Atopic dermatitis, Recurrent upper respiratory tract infections, Pneumonia OMIM:618806
Ciliary Dyskinesia, Primary, 36, X-Linked
Male infertility, Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis... OMIM:300991
Chilblain Lupus
Inflammatory abnormality of the skin, Antiphospholipid antibody positivity, Skin rash, Rheumatoid... ORPHA:90280
Ciliary Dyskinesia, Primary, 29
Recurrent respiratory infections, Atelectasis, Decreased nasal nitric oxide, Bronchiectasis, Infe... OMIM:615872
Immunodeficiency 48
Recurrent respiratory infections, Hepatomegaly, Pneumonia, Splenomegaly, Eczematoid dermatitis OMIM:269840
Ciliary Dyskinesia, Primary, 46
Reduced forced expiratory volume in one second, Reduced forced vital capacity, Recurrent pneumoni... OMIM:619436
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Glomerulonephritis, Autoimmune hemolytic anemia, Pneumonia OMIM:247800
Verrucous Hemangioma
Inflammatory abnormality of the skin ORPHA:464318
Junctional Epidermolysis Bullosa With Pyloric Atresia
Urethral stricture, Recurrent skin infections, Urinary bladder inflammation, Hydronephrosis, Hema... ORPHA:79403
Familial Reactive Perforating Collagenosis
Perifolliculitis, Inflammatory abnormality of the skin, Maculopapular exanthema, Pruritus, Crusti... ORPHA:79147
Combined Immunodeficiency, X-Linked
Sinusitis, Recurrent bronchitis, Pneumonia, Otitis media OMIM:312863
Mannose-Binding Lectin Deficiency
Recurrent skin infections OMIM:614372
Melioidosis
Foot osteomyelitis, Unusual skin infection, Lung abscess, Liver abscess, Pneumonia, Respiratory t... ORPHA:31202
Bronchiectasis With Or Without Elevated Sweat Chloride 3
Bronchiectasis, Chronic bronchitis OMIM:613071
Bronchiectasis With Or Without Elevated Sweat Chloride 1
Bronchiectasis, Chronic bronchitis OMIM:211400
Bronchiectasis With Or Without Elevated Sweat Chloride 2
Bronchiectasis, Chronic bronchitis OMIM:613021
Panniculitis-Induced Localized Lipodystrophy
Reduced subcutaneous adipose tissue, Inflammatory abnormality of the skin, Lipoatrophy, Antinucle... ORPHA:90159
Ciliary Dyskinesia, Primary, 45
Male infertility, Recurrent respiratory infections, Bronchiectasis, Absent inner and outer dynein... OMIM:618801
Autoimmune Hepatitis
Elevated hepatic transaminase, Viral hepatitis, Liver kidney microsome type 1 antibody positivity... ORPHA:2137
Muscular Hypertonia, Lethal
Respiratory distress, Pneumonia OMIM:254120
C1Q Deficiency 2
Anti-Sm antibody positivity, Rheumatoid factor positive, Chilblains, Discoid lupus rash, Atelecta... OMIM:620321
Immunodeficiency 15A
Recurrent respiratory infections, Chronic mucocutaneous candidiasis, Recurrent sinusitis, Recurre... OMIM:618204
Paget Disease, Extramammary
Eczematoid dermatitis OMIM:167300
Idiopathic Achalasia
Wheezing, Recurrent aspiration pneumonia, Bronchitis, Cough ORPHA:930
Mucus Inspissation Of Respiratory Tract
Recurrent respiratory infections, Atelectasis, Chronic pulmonary obstruction, Bronchiectasis, Chr... OMIM:253240
Mounier-Kühn Syndrome
Recurrent respiratory infections, Recurrent bronchopulmonary infections, Pneumonia, Bronchitis ORPHA:3347
Immunodeficiency 11B With Atopic Dermatitis
Pneumonia, Asthma, Atopic dermatitis, Bronchiectasis, Ulcerative colitis, Colonic eosinophilia, D... OMIM:617638
Ciliary Dyskinesia, Primary, 42
Pneumonia, Reduced forced vital capacity, Chronic pulmonary obstruction, Bronchiectasis, Respirat... OMIM:618695
Aquagenic Palmoplantar Keratoderma
Recurrent sinopulmonary infections, Palmar pruritus, Atopic dermatitis, Systemic lupus erythematosus ORPHA:498359
Ciliary Dyskinesia, Primary, 21
Neonatal respiratory distress, Atelectasis, Recurrent pneumonia, Bronchiectasis, Decreased nasal ... OMIM:615294
Ciliary Dyskinesia, Primary, 24
Neonatal respiratory distress, Chronic pulmonary obstruction, Decreased nasal nitric oxide, Bronc... OMIM:615481
Ciliary Dyskinesia, Primary, 34
Male infertility, Neonatal respiratory distress, Reduced respiratory ciliary beating frequency, A... OMIM:617091
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial
Perifolliculitis OMIM:260910
Facioscapulohumeral Muscular Dystrophy 3, Digenic
Aspiration pneumonia OMIM:619477
Autosomal Agammaglobulinemia
Recurrent respiratory infections, Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections,... ORPHA:33110
Pressure-Induced Localized Lipoatrophy
Reduced subcutaneous adipose tissue, Inflammatory abnormality of the skin, Absence of subcutaneou... ORPHA:90160
Immunodeficiency 50
Recurrent respiratory infections, Recurrent urinary tract infections, Eczema OMIM:300988
Immunodeficiency 56
Recurrent respiratory infections, Cholangitis, Recurrent pneumonia, Bronchiectasis, Recurrent sin... OMIM:615207
Ciliary Dyskinesia, Primary, 26
Recurrent respiratory infections, Neonatal respiratory distress, Absent outer dynein arms, Bronch... OMIM:615500
Idiopathic Non-Lupus Full-House Nephropathy
Glomerular C3 deposition, Renal insufficiency, Skin rash, Glomerulonephritis, Autoimmunity, Micro... ORPHA:567544
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome
Cryptorchidism, Aplasia/Hypoplasia of the testes, Hypoplasia of penis, Eczema ORPHA:3055
Ciliary Dyskinesia, Primary, 11
Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ... OMIM:612649
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Liver kidney microsome type 1 antibody positivity, Granulomatous cholangitis, Abnormal intrahepat... ORPHA:562639
Mercury Poisoning
Respiratory distress, Dyspnea, Respiratory failure, Interstitial pneumonitis, Acute kidney injury ORPHA:330021
Ciliary Dyskinesia, Primary, 33
Atelectasis, Recurrent pneumonia, Bronchiectasis, Chronic rhinitis, Cough, Recurrent otitis media... OMIM:616726
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Chronic gastritis, Liver abscess, Cholangitis, Bronchitis, Cholecystitis, Psoriasiform dermatitis... ORPHA:183675
Alpha-1-Antitrypsin Deficiency
Elevated hepatic transaminase, Chronic bronchitis, Hepatocellular carcinoma, Dyspnea, Wheezing, C... OMIM:613490
Neonatal Alloimmune Neutropenia
Jaundice, Neutropenia in presence of anti-neutropil antibodies, Pneumonia, Antineutrophil antibod... ORPHA:464370
Ciliary Dyskinesia, Primary, 23
Neonatal respiratory distress, Productive cough, Recurrent pneumonia, Bronchiectasis, Respiratory... OMIM:615451
Familial Peripheral Male-Limited Precocious Puberty
Male infertility, Acne, Precocious puberty, Long penis, Oligozoospermia, Macroorchidism ORPHA:3000
Ciliary Dyskinesia, Primary, 39
Decreased nasal nitric oxide, Bronchiectasis, Cough, Recurrent otitis media, Recurrent lower resp... OMIM:618254
Tracheobronchomegaly
Recurrent bronchopulmonary infections, Bronchiectasis OMIM:275300
Ciliary Dyskinesia, Primary, 32
Recurrent respiratory infections, Neonatal respiratory distress, Chronic pulmonary obstruction, B... OMIM:616481
Ciliary Dyskinesia, Primary, 14
Male infertility, Recurrent respiratory infections, Neonatal respiratory distress, Absent inner d... OMIM:613807
Chilblain Lupus 1
Antinuclear antibody positivity, Chilblains OMIM:610448
Ciliary Dyskinesia, Primary, 12
Recurrent respiratory infections, Neonatal respiratory distress, Chronic pulmonary obstruction, B... OMIM:612650
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Chronic oral candidiasis, Pneumonia, Recurrent pneumonia, Hepatitis, Hepatosplenomegaly, Otitis m... ORPHA:169160
Isolated Congenital Hypoglossia/Aglossia
Respiratory distress, Dyspnea, Upper airway obstruction, Aspiration pneumonia ORPHA:141152
Lupus Erythematosus Tumidus
Deep dermal perivascular inflammatory infiltrate, Antinuclear antibody positivity, Autoimmune ant... ORPHA:90283
Q Fever
Respiratory distress, Rheumatoid factor positive, Abnormality of the liver, Cholecystitis, Cough,... ORPHA:781
Ige Responsiveness, Atopic
Asthma, Eczema, Allergic rhinitis OMIM:147050
Systemic Lupus Erythematosus, Susceptibility To, 6
Pericarditis, Abnormality of the kidney, Antinuclear antibody positivity, Systemic lupus erythema... OMIM:609939
Acute Radiation Syndrome
Inflammatory abnormality of the skin, Interstitial pneumonitis ORPHA:454831
Ciliary Dyskinesia, Primary, 25
Recurrent respiratory infections, Neonatal respiratory distress, Productive cough, Chronic pulmon... OMIM:615482
Ciliary Dyskinesia, Primary, 13
Absent inner dynein arms, Absent outer dynein arms, Bronchiectasis, Immotile cilia, Infertility, ... OMIM:613193
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease
Chronic furunculosis, Recurrent cutaneous abscess formation, Perifolliculitis, Acne inversa OMIM:613736
Ciliary Dyskinesia, Primary, 15
Recurrent respiratory infections, Neonatal respiratory distress, Chronic bronchitis, Wheezing, Re... OMIM:613808
Proteasome-Associated Autoinflammatory Syndrome 5
Splenomegaly, Hepatomegaly, Skin rash OMIM:619175
Ciliary Dyskinesia, Primary, 3
Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ... OMIM:608644
X-Linked Agammaglobulinemia
Recurrent cutaneous abscess formation, Sinusitis, Osteomyelitis, Skin rash, Autoimmunity, Abnorma... ORPHA:47
Ciliary Dyskinesia, Primary, 27
Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ... OMIM:615504
Immunodeficiency, Common Variable, 12, With Autoimmunity
Recurrent sinopulmonary infections, Atrophic gastritis, Autoimmune hemolytic anemia, Recurrent sk... OMIM:616576
Idiopathic Bronchiectasis
Crackles, Productive cough, Respiratory tract infection, Dyspnea, Wheezing, Emphysema, Bronchiect... ORPHA:60033
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Male infertility, Recurrent respiratory infections, Bronchiectasis, Decreased nasal nitric oxide,... OMIM:620197
Aspergillosis
Sinusitis, Osteomyelitis, Pneumonia, Abnormality of the kidney, Keratitis, Dyspnea, Asthma, Chron... ORPHA:1163
Ciliary Dyskinesia, Primary, 28
Recurrent respiratory infections, Neonatal respiratory distress, Dynein arm defect of respiratory... OMIM:615505
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Respiratory distress, Recurrent respiratory infections, Abnormal mucociliary clearance, Atelectas... OMIM:619466
Bile Acid Synthesis Defect, Congenital, 3
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Hepatic bridging fib... OMIM:613812
Idiopathic Pulmonary Fibrosis
Crackles, Bronchiectasis, Abnormal pulmonary interstitial morphology, Honeycomb lung, Pulmonary f... ORPHA:2032
Wilson Disease
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Abnormality of the menstrual ... ORPHA:905
Pulmonary Alveolar Proteinosis, Acquired
Recurrent respiratory infections, Lung abscess, Pneumonia, Anti-granulocyte-macrophage colony sti... OMIM:610910
Cortisone Reductase Deficiency 1
Precocious puberty, Acne, Infertility, Oligomenorrhea OMIM:604931
Microlissencephaly
Pneumonia ORPHA:1083
Ciliary Dyskinesia, Primary, 48, Without Situs Inversus
Absent central microtubular pair morphology of respiratory motile cilia, Recurrent pneumonia, Bro... OMIM:620032
Isolated Agammaglobulinemia
Recurrent cutaneous abscess formation, Recurrent respiratory infections, Sinusitis, Skin rash, Pn... ORPHA:229717
Immunodeficiency 107, Susceptibility To Invasive Staphylococcus Aureus Infection
Chronic furunculosis, Cutaneous abscess OMIM:619986
Ciliary Dyskinesia, Primary, 38
Neonatal respiratory distress, Productive cough, Decreased nasal nitric oxide, Bronchiectasis, Ab... OMIM:618063
Adult-Onset Still Disease
Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Skin rash, Pruritus, Recurrent pharyng... ORPHA:829
Immunodeficiency, Common Variable, 1
Hepatomegaly, Pneumonia, Splenomegaly, Recurrent pneumonia, Bronchiectasis, Neutropenia in presen... OMIM:607594
Hepatitis, Fulminant Viral, Susceptibility To
Elevated hepatic transaminase, Hepatomegaly, Fulminant hepatitis, Jaundice, Hepatic failure, Hash... OMIM:618549
Macrophage Activation Syndrome
Increased inflammatory response, Hepatomegaly, Elevated circulating aspartate aminotransferase co... ORPHA:158061
Interstitial Granulomatous Dermatitis With Arthritis
Pruritus, Inflammatory abnormality of the skin, Rheumatoid factor positive, Rheumatoid arthritis ORPHA:79099
Activated Pi3K-Delta Syndrome
Hepatomegaly, Pneumonia, Autoimmunity, Splenomegaly, Bronchiectasis, Arthritis, Recurrent otitis ... ORPHA:397596
Erythema Nodosum, Familial
Erythema nodosum OMIM:132990
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Inflammatory abnormality of the skin, Sinusitis, Autoimmunity, Anti-thyroid peroxidase antibody p... ORPHA:277
Ciliary Dyskinesia, Primary, 5
Recurrent respiratory infections, Neonatal respiratory distress, Recurrent pneumonia, Bronchiecta... OMIM:608647
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Autoimmune hemolytic anemia, Fluctuating splenomegaly, Autoimmune thrombocytopenia, Bronchiectasi... OMIM:619220
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome
Recurrent respiratory infections, Hepatitis ORPHA:363523
Chronic Graft Versus Host Disease
Elevated hepatic transaminase, Fasciitis, Phimosis, Dyspnea, Wheezing, Pneumothorax, Urinary blad... ORPHA:99921
Combined Immunodeficiency Due To Dock8 Deficiency
Recurrent respiratory infections, Recurrent bacterial skin infections, Pneumonia, Asthma, Atopic ... ORPHA:217390
Hereditary Pulmonary Alveolar Proteinosis
Respiratory distress, Respiratory failure requiring assisted ventilation, Crazy paving pattern, C... ORPHA:264675
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency
Acute hepatic failure, Cholangitis, Portal hypertension, Autoimmunity, Hypersplenism, Anti-thyroi... ORPHA:228426
Ciliary Dyskinesia, Primary, 7
Recurrent pneumonia, Decreased nasal nitric oxide, Bronchiectasis, Restrictive ventilatory defect... OMIM:611884
Systemic Lupus Erythematosus
Pericarditis, Antiphospholipid antibody positivity, Lupus nephritis, Antinuclear antibody positiv... OMIM:152700
Chronic Mucocutaneous Candidiasis
Dyspareunia, Recurrent respiratory infections, Recurrent urinary tract infections, Skin rash, Pru... ORPHA:1334
Dermatitis, Atopic
Recurrent skin infections, Allergic rhinitis, Eczema, Pruritus, Asthma, Atopic dermatitis, Conjun... OMIM:603165
Ciliary Dyskinesia, Primary, 19
Male infertility, Recurrent respiratory infections, Bronchiectasis, Absent inner and outer dynein... OMIM:614935
Porphyria Cutanea Tarda, Type I
Hepatic fibrosis, Eczema, Porphyrinuria OMIM:176090
Quinquaud Folliculitis Decalvans
Pustule, Recurrent skin infections ORPHA:346
Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome
Aspiration pneumonia OMIM:609528
Dietary Iron Overload Disease
Viral hepatitis, Hepatomegaly, Hepatocellular carcinoma, Peritonitis, Micronodular cirrhosis, Abn... ORPHA:139507
Avian Influenza
Respiratory distress, Elevated hepatic transaminase, Pneumonia, Productive cough, Nonproductive c... ORPHA:454836
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Hepatomegaly, Atrophic gastritis, Psoriasiform dermatitis, Autoimmune hemolytic anemia, Eczema, P... ORPHA:436159
Ciliary Dyskinesia, Primary, 22
Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ... OMIM:615444
Juvenile Arthritis
Antinuclear antibody positivity, Skin rash OMIM:618795
Immunodeficiency With Hyper-Igm, Type 4
Autoimmune hemolytic anemia, Osteomyelitis, Autoimmune thrombocytopenia, Recurrent upper respirat... OMIM:608184
Rigid Spine Syndrome
Abnormality on pulmonary function testing, Pneumonia, Respiratory insufficiency ORPHA:97244
Ichthyosis Vulgaris
Asthma, Eczematoid dermatitis OMIM:146700
Autoimmune Polyendocrinopathy Type 4
Atrophic gastritis, Antiphospholipid antibody positivity, Hypergonadotropic hypogonadism, Autoimm... ORPHA:227990
Fowler Urethral Sphincter Dysfunction Syndrome
Acne, Urinary incontinence, Dysuria, Abnormality of the urethra, Polycystic ovaries, Menorrhagia,... ORPHA:2795
Graft Versus Host Disease
Elevated hepatic transaminase, Fasciitis, Myositis, Maculopapular exanthema, Pneumonia, Inflammat... ORPHA:39812
Immunodeficiency 75 With Lymphoproliferation
Recurrent respiratory infections, Bronchiectasis, Hepatosplenomegaly OMIM:619126
Severe Combined Immunodeficiency, X-Linked
Hepatomegaly, Skin rash, Pneumonia, Recurrent pneumonia, Hypoplasia of the thymus, Chronic oral c... OMIM:300400
Porphyria Cutanea Tarda
Elevated hepatic transaminase, Recurrent bacterial skin infections, Viral hepatitis, Abnormal cir... ORPHA:101330
Familial Nasal Acilia
Respiratory distress, Dyspnea, Atelectasis, Recurrent upper respiratory tract infections, Bronchi... ORPHA:922
Infantile Osteopetrosis With Neuroaxonal Dysplasia
Pneumonia ORPHA:85179
Hydroa Vacciniforme
Superficial dermal perivascular inflammatory infiltrate, Eczema, Keratitis, Porphyrinuria, Malar ... ORPHA:330058
Sarcoidosis, Susceptibility To, 2
Hepatomegaly, Erythema nodosum, Dyspnea, Splenomegaly, Pneumothorax, Bronchiectasis, Uveitis, Abn... OMIM:612387
Erosive Pustular Dermatosis Of The Scalp
Pustule ORPHA:222
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Glomerulonephritis, Eczema, Autoimmune thrombocytopenia, Hepatitis, Arthritis, Erythroderma, Anti... OMIM:304790
Autoimmune Polyendocrinopathy Type 3
Atrophic gastritis, Antiphospholipid antibody positivity, Hypergonadotropic hypogonadism, Autoimm... ORPHA:227982
Dyskeratosis Congenita, Autosomal Dominant 1
Dyspnea, Hepatic necrosis, Interstitial pneumonitis, Pulmonary fibrosis, Cirrhosis OMIM:127550
Lymphatic Malformation 3
Recurrent skin infections OMIM:613480
Ciliary Dyskinesia, Primary, 35
Neonatal respiratory distress, Abdominal situs ambiguus, Productive cough, Recurrent pneumonia, D... OMIM:617092
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Recurrent urinary tract infections, Sinusitis, Pneumonia, Decreased response to growth hormone st... OMIM:307200
Ciliary Dyskinesia, Primary, 16
Absent outer dynein arms, Bronchiectasis, Abnormal ciliary motility, Chronic rhinitis, Chronic ot... OMIM:614017
Subacute Cutaneous Lupus Erythematosus
Antiphospholipid antibody positivity, Rheumatoid factor positive, Anti-histone antibody positivit... ORPHA:163525
Spondyloenchondrodysplasia
Autoimmune hemolytic anemia, Skin rash, Pneumonia, Autoimmunity, Autoimmune thrombocytopenia, Ant... ORPHA:1855
Primary Sjögren Syndrome
Myositis, Chronic active hepatitis, Bronchitis, Nonproductive cough, Tubulointerstitial nephritis... ORPHA:289390
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections
Recurrent skin infections, Recurrent upper respiratory tract infections, Atopic dermatitis, Recur... OMIM:618944
Bullous Impetigo
Pustule, Recurrent bacterial skin infections, Septic arthritis, Glomerulopathy ORPHA:36237
Amyloidosis, Familial Visceral
Hepatomegaly, Skin rash, Proteinuria, Splenomegaly, Cholestasis, Hematuria, Nephrotic syndrome, N... OMIM:105200
Ciliary Dyskinesia, Primary, 17
Recurrent respiratory infections, Dynein arm defect of respiratory motile cilia, Bronchiectasis, ... OMIM:614679
Laryngeal Abductor Paralysis-Intellectual Disability Syndrome
Neonatal asphyxia, Bronchiectasis, Congenital laryngeal stridor ORPHA:2375
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Pneumonia, Purulent rhinitis, Arthritis, Conjunctivitis, Otitis media OMIM:601457
Bile Acid Synthesis Defect, Congenital, 1
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Intrahepatic cholestasis, Jaun... OMIM:607765
Tracheobronchopathia Osteochondroplastica
Recurrent respiratory infections, Pneumonia, Bronchitis, Productive cough, Atelectasis, Wheezing,... ORPHA:3348
Beta-Thalassemia
Hepatomegaly, Hypogonadotropic hypogonadism, Splenomegaly, Hepatitis, Respiratory insufficiency, ... ORPHA:848
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Proteinuria, Pruritus, Jaundic... OMIM:613404
Immunodeficiency By Defective Expression Of Mhc Class Ii
Recurrent respiratory infections, Autoimmune hemolytic anemia, Sinusitis, Skin rash, Autoimmunity... ORPHA:572
Legionnaires Disease
Pericarditis, Renal insufficiency, Proteinuria, Abnormal pleura morphology, Recurrent pharyngitis... ORPHA:549
Cholestasis-Lymphedema Syndrome
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Elevated circulating alkalin... OMIM:214900
Scedosporiosis
Unusual skin infection, Pericarditis, Arthralgia/arthritis, Sinusitis, Pneumonia, Bronchitis, Ost... ORPHA:449280
Cd8 Deficiency, Familial
Recurrent respiratory infections, Bronchiectasis OMIM:608957
Congenital Bile Acid Synthesis Defect Type 2
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Abnormal circulating enzyme co... ORPHA:79303
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Respiratory tract infection, Nonproductive cough, Dyspnea, Chronic pulmonary obstruction, Hyperse... ORPHA:79127
Caspase 8 Deficiency
Recurrent sinopulmonary infections, Pneumonia, Eczema, Splenomegaly, Asthma OMIM:607271
Immunodeficiency 66
Pustule, Recurrent skin infections OMIM:618847
Acquired Ichthyosis
Pruritus, Renal insufficiency, Recurrent skin infections, Autoimmunity ORPHA:454
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Respiratory failure requiring assisted ventilation, Dyspnea, Respiratory failure, Abnormality of ... ORPHA:90117
Severe Acute Respiratory Syndrome
Respiratory distress, Respiratory failure requiring assisted ventilation, Dyspnea, Hypoxemia, Acu... ORPHA:140896
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Recurrent respiratory infections, Osteomyelitis, Recurrent skin infections, Eczema, Pruritus, Rec... OMIM:618282
Ciliary Dyskinesia, Primary, 2
Respiratory distress, Recurrent respiratory infections, Sinusitis, Bronchiectasis, Absent inner a... OMIM:606763
Complement Factor B Deficiency
Peritonitis, Pneumonia OMIM:615561
Bare Lymphocyte Syndrome, Type I
Bronchiectasis, Bronchiolitis, Emphysema, Chronic sinusitis, Chronic otitis media, Recurrent bron... OMIM:604571
Immunodeficiency 110 With Lymphoproliferation
Autoimmune hemolytic anemia, Recurrent skin infections, Recurrent upper respiratory tract infecti... OMIM:614868
Inflammatory Bowel Disease 28, Autosomal Recessive
Perianal abscess, Enterocolitis, Folliculitis, Pyoderma, Colitis, Crohn's disease OMIM:613148
Myasthenia Gravis
Myositis, Dyspnea, Anti-acetylcholine receptor antibody positivity, Anti-muscle-specific tyrosine... ORPHA:589
Inflammatory Bowel Disease 25, Autosomal Recessive
Perianal abscess, Pancolitis, Enterocolitis, Folliculitis, Rectovaginal fistula, Recurrent bronch... OMIM:612567
Bare Lymphocyte Syndrome, Type Ii
Viral hepatitis, Recurrent urinary tract infections, Cholangitis, Recurrent upper respiratory tra... OMIM:209920
Idiopathic Localized Lipodystrophy
Reduced subcutaneous adipose tissue, Inflammatory abnormality of the skin, Lipoatrophy, Pruritus,... ORPHA:90158
Immunodeficiency, Common Variable, 2
Hepatomegaly, Autoimmunity, Splenomegaly, Recurrent pneumonia, Bronchiectasis, Conjunctivitis, Re... OMIM:240500
Retinal Dystrophy And Microvillus Inclusion Disease
Recurrent lower respiratory tract infections, Recurrent upper respiratory tract infections, Bronc... OMIM:619446
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Anterior uveitis, Skin rash, Genital ulcers, Antinuclear antibody positivity, Colitis, Lupus anti... OMIM:616744
Ciliary Dyskinesia, Primary, 43
Neonatal respiratory distress, Productive cough, Recurrent upper respiratory tract infections, Br... OMIM:618699
Chronic Actinic Dermatitis
Late onset atopic dermatitis, Eczema, Allergic rhinitis, Pruritus, Erythroderma ORPHA:330064
Bile Acid Synthesis Defect, Congenital, 4
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Elevated circulating aspartate... OMIM:214950
Microsporidiosis
Myositis, Sinusitis, Cholangitis, Bronchitis, Lymphadenitis, Abnormality of the spleen, Abnormali... ORPHA:2552
Nephronophthisis-Like Nephropathy 2
Recurrent respiratory infections, Renal insufficiency, Polyuria, Bronchiectasis, Stage 5 chronic ... OMIM:619468
Erythrokeratodermia Variabilis Et Progressiva 6
Pruritus, Superficial dermal perivascular inflammatory infiltrate OMIM:618531
Mal De Meleda
Inflammatory abnormality of the skin, Superficial dermal perivascular inflammatory infiltrate ORPHA:87503
T-Cell Immunodeficiency With Thymic Aplasia
Recurrent urinary tract infections, Sinusitis, Aplasia of the thymus, Pneumonia, Autoimmunity, At... ORPHA:83471
Deafness, Sensorineural, With Peripheral Neuropathy And Arterial Disease
Skin rash OMIM:124950
Lymphoid Interstitial Pneumonia
Crackles, Cough, Decreased DLCO, Multiple pulmonary cysts, Hepatomegaly, Respiratory tract infect... ORPHA:79128
Keratolytic Winter Erythema
Pustule ORPHA:50943
Bacterial Toxic-Shock Syndrome
Respiratory distress, Fasciitis, Sinusitis, Myositis, Pneumonia, Osteomyelitis, Skin rash, Respir... ORPHA:36234
Primary Biliary Cholangitis
Autoimmunity, Portal hypertension, Pruritus, Antinuclear antibody positivity, Jaundice, Hepatitis... ORPHA:186
Intellectual Developmental Disorder, Fra12A Type
Recurrent lower respiratory tract infections, Erythroderma OMIM:136630
Ciliary Dyskinesia, Primary, 1
Male infertility, Pneumonia, Asplenia, Atelectasis, Absent outer dynein arms, Bronchiectasis, Imm... OMIM:244400
Dracunculiasis
Pruritus, Recurrent cutaneous abscess formation, Skin rash, Arthritis ORPHA:231
Congenital Disorder Of Glycosylation, Type Iih
Elevated serum transaminases during infections, Elevated circulating aspartate aminotransferase c... OMIM:611182
Immunodeficiency 27A
Increased inflammatory response, Abnormal bronchus physiology, Rheumatoid factor positive, Pneumo... OMIM:209950
Whim Syndrome 1
Abnormality of female external genitalia, Abnormal morphology of female internal genitalia, Recur... OMIM:193670
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature
Recurrent lower respiratory tract infections, Recurrent upper respiratory tract infections, Bronc... OMIM:615139
Ciliary Dyskinesia, Primary, 30
Recurrent respiratory infections, Chronic bronchitis, Absent outer dynein arms, Asthma, Bronchiec... OMIM:616037
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Inflammatory abnormality of the skin, Antiphospholipid antibody positivity, Autoimmune hemolytic ... ORPHA:391487
Aicardi-Goutieres Syndrome 3
Elevated hepatic transaminase, Chilblains, Hepatosplenomegaly OMIM:610329
Immunodeficiency 77
Chronic pulmonary obstruction, Bronchiectasis, Cutaneous abscess OMIM:619223
Ichthyosis Hystrix Of Curth-Macklin
Recurrent skin infections ORPHA:79503
Congenital Disorder Of Glycosylation, Type Iic
Bronchiolitis, Recurrent otitis media, Periodontitis, Pneumonia OMIM:266265
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Herpes simplex encephalitis, Bronchiectasis, Hepatosplenomegaly, Recurrent otitis media, Molluscu... OMIM:618982
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Hepatomegaly, Atrophic gastritis, Psoriasiform dermatitis, Autoimmune hemolytic anemia, Eczema, A... OMIM:616100
Tularemia
Respiratory distress, Skin rash, Pneumonia, Erythema nodosum, Conjunctivitis, Otitis media, Cough... ORPHA:3392
Immunodeficiency 57 With Autoinflammation
Recurrent respiratory infections, Skin rash, Gastritis, Perianal abscess, Bronchiectasis, Inflamm... OMIM:618108
Glutathionuria
Urinary incontinence, Eczema, Asthma, Reduced gamma-glutamyltransferase level, Glutathionuria OMIM:231950
Elastoderma
Erysipelas, Eczema ORPHA:228240
Alopecia-Intellectual Disability Syndrome 4
Bilateral cryptorchidism, Micropenis, Hypospadias, Erythroderma OMIM:618840
Lichen Planopilaris
Pruritus, Hepatitis ORPHA:525
Systemic Lupus Erythematosus 17
Autoimmune thrombocytopenia, Antinuclear antibody positivity, Systemic lupus erythematosus, Optic... OMIM:301080
Combined Oxidative Phosphorylation Deficiency 51
Neonatal respiratory distress, Respiratory failure, Aspiration pneumonia OMIM:619057
Leukocyte Adhesion Deficiency
Recurrent urinary tract infections, Sinusitis, Severe periodontitis, Pneumonia, Osteomyelitis, Re... ORPHA:2968
Combined Immunodeficiency Due To Zap70 Deficiency
Recurrent bacterial skin infections, Autoimmune hemolytic anemia, Skin rash, Pneumonia, Autoimmun... ORPHA:911
Congenital Bile Acid Synthesis Defect Type 4
Elevated hepatic transaminase, Giant cell hepatitis, Abnormal circulating enzyme concentration or... ORPHA:79095
Systemic-Onset Juvenile Idiopathic Arthritis
Anterior uveitis, Pericarditis, Hepatomegaly, Skin rash, Autoimmunity, Splenomegaly, Pleural effu... ORPHA:85414
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Asthma, Eczema, Systemic lupus erythematosus OMIM:616871
Ulerythema Ophryogenesis
Acne, Contact dermatitis ORPHA:3406
Coffin-Siris Syndrome 8
Cryptorchidism, Eczema OMIM:618362
Immunodeficiency 52
Autoimmune thrombocytopenia, Splenomegaly, Recurrent pneumonia, Bronchiectasis, Chronic lung disease OMIM:617514
Agammaglobulinemia 7, Autosomal Recessive
Erythema nodosum, Recurrent respiratory infections OMIM:615214
Autosomal Erythropoietic Protoporphyria
Eczema, Pruritus, Decreased liver function, Cirrhosis, Cholelithiasis ORPHA:79278
Ciliary Dyskinesia, Primary, 37
Female infertility, Goiter, Wheezing, Bronchiectasis, Chronic rhinitis, Rhinorrhea OMIM:617577
Immunodeficiency With Hyper-Igm, Type 1
Hepatomegaly, Splenomegaly, Hepatitis, Chronic hepatitis, Hypoxemia, Sclerosing cholangitis, Cirr... OMIM:308230
Agammaglobulinemia, X-Linked
Recurrent urinary tract infections, Enteroviral hepatitis, Wheezing, Epididymitis, Recurrent pneu... OMIM:300755
Cryoglobulinemic Vasculitis
Hepatomegaly, Viral hepatitis, Glomerulopathy, Renal insufficiency, Proteinuria, Splenomegaly, He... ORPHA:91138
Panbronchiolitis, Diffuse
Crackles, Rhonchi, Wheezing, Bronchiectasis, Hypoxemia, Cough OMIM:604809
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes
Acne, Secondary amenorrhea, Premature pubarche OMIM:612847
Bullous Pemphigoid
Psoriasiform dermatitis, Autoimmunity, Eczema ORPHA:703
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections
Recurrent sinopulmonary infections, Skin rash, Recurrent pneumonia, Chronic mucocutaneous candidi... OMIM:147060
Alstrom Syndrome
Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Chronic active hepatitis, Hypergo... OMIM:203800
Familial Mediterranean Fever, Autosomal Dominant
Renal insufficiency, Proteinuria, Peritonitis, Renal amyloidosis, Pleuritis, Erysipelas OMIM:134610
Subcorneal Pustular Dermatosis
Autoimmunity, Pustule, Pruritus, Systemic lupus erythematosus, Rheumatoid arthritis ORPHA:48377
Autoimmune Lymphoproliferative Syndrome
Rheumatoid factor positive, Uveitis, Colitis, Hepatomegaly, Premature ovarian insufficiency, Auto... ORPHA:3261
Central Precocious Puberty In Male
Pituitary microadenoma, Acne, Abnormality of the testis size, Precocious puberty in males ORPHA:649929
Postinfectious Vasculitis
Viral hepatitis, Inflammatory abnormality of the skin, Membranoproliferative glomerulonephritis, ... ORPHA:48435
Immunodeficiency 62
Recurrent lower respiratory tract infections, Recurrent upper respiratory tract infections, Bronc... OMIM:618459
Pellagra-Like Syndrome
Skin rash OMIM:260650
Allergic Bronchopulmonary Aspergillosis
Asthma, Bronchiectasis, Respiratory insufficiency, Cough, Pulmonary arterial hypertension, Emphysema ORPHA:1164
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections
Recurrent respiratory infections, Eczema, Keratitis, Bronchiectasis, Recurrent otitis media OMIM:618523
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Recurrent respiratory infections, Autoimmune thrombocytopenia, Splenomegaly, Bronchiectasis, Recu... OMIM:300853
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Hepatomegaly, Splenomegaly, Jaundice, Hepatitis, Hemoglobinuria, Cholelithiasis OMIM:194380
Seizures, Cortical Blindness, And Microcephaly Syndrome
Bronchiectasis OMIM:616632
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Recurrent respiratory infections, Hepatomegaly, Autoimmunity, Portal hypertension, Reduced forced... OMIM:613385
Immunodeficiency 58
Recurrent cutaneous abscess formation, Recurrent respiratory infections, Eczema, Allergic rhiniti... OMIM:618131
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Elevated hepatic transaminase, Giant cell hepatitis, Hepatic melanin-like lysosomal pigmentation,... OMIM:208085
Infant Acute Respiratory Distress Syndrome
Pneumonia, Respiratory tract infection, Atelectasis, Nasal flaring, Tachypnea, Hypoxemia, Respira... ORPHA:70587
Protoporphyria, Erythropoietic, 1
Pruritus, Cholelithiasis, Hepatic failure, Eczema OMIM:177000
Autoinflammatory-Pancytopenia Syndrome
Membranoproliferative glomerulonephritis, Lipodystrophy, Intestinal inflammation, Chilblains, Pro... OMIM:619858
Primary Sclerosing Cholangitis
Acute hepatic failure, Uveitis, Hepatic fibrosis, Neoplasm of the gallbladder, Elevated alkaline ... ORPHA:171
Immunodeficiency 13
Recurrent upper respiratory tract infections, Bronchiolitis obliterans organizing pneumonia, Bron... OMIM:615518
48,Xyyy Syndrome
Acne, Asthma, Recurrent upper respiratory tract infections, Abnormal renal morphology, Azoospermi... ORPHA:99329
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Splenomegaly, Recurrent respiratory infections, Recurrent sinopulmonary infections, Bronchiectasis OMIM:615513
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Recurrent sinopulmonary infections, Eczema, Eosinophilic infiltration of the esophagus, Asthma, R... OMIM:243700
Congenital Disorder Of Glycosylation, Type It
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating aspartate aminotransferase conc... OMIM:614921
Omenn Syndrome
Hepatomegaly, Pneumonia, Autoimmunity, Pruritus, Splenomegaly, Thyroiditis, Nephrotic syndrome, E... ORPHA:39041
Mixed-Type Autoimmune Hemolytic Anemia
Abnormal urinary color, Autoimmune hemolytic anemia, Skin rash, Autoimmunity, Systemic lupus eryt... ORPHA:90036
Immunodeficiency 102
Hepatomegaly, Recurrent skin infections, Nodular regenerative hyperplasia of liver, Autoimmune th... OMIM:301082
Acute Lung Injury
Respiratory distress, Acute pancreatitis, Pneumonia, Diffuse alveolar hemorrhage, Dyspnea, Tachyp... ORPHA:178320
Hereditary Bullous Dystrophy, Macular Type
Pneumonia, Cryptorchidism, Decreased testicular size, External genital hypoplasia ORPHA:1867
X-Linked Centronuclear Myopathy
Respiratory distress, Respiratory failure requiring assisted ventilation, Recurrent respiratory i... ORPHA:596
Papa Syndrome
Increased inflammatory response, Myositis, Acne, Proteinuria, Pustule, Arthritis, Crohn's disease ORPHA:69126
Mccune-Albright Syndrome
Hyperplasia of the Leydig cells, Hyperphosphaturia, Elevated circulating growth hormone concentra... ORPHA:562
Congenital Enterovirus Infection
Respiratory distress, Skin rash, Myocarditis, Hepatitis, Cholestasis, Pleural effusion, Hepatic f... ORPHA:292
Intrahepatic Cholestasis Of Pregnancy
Elevated hepatic transaminase, Neonatal respiratory distress, Skin rash, Autoimmunity, Pruritus, ... ORPHA:69665
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Recurrent respiratory infections, Autoimmune hemolytic anemia, Psoriasiform dermatitis, Autoimmun... OMIM:243150
Methylmalonic Acidemia With Homocystinuria
Skin rash ORPHA:26
Immunodeficiency 64 With Lymphoproliferation
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Antinuclear antibody positivity, Spleno... OMIM:618534
Immunodeficiency, Common Variable, 8, With Autoimmunity
Recurrent respiratory infections, Atrophic gastritis, Autoimmune hemolytic anemia, Pneumonia, Aut... OMIM:614700
Mycosis Fungoides
Pruritus, Psoriasiform dermatitis, Eczema OMIM:254400
Pityriasis Rubra Pilaris
Pustule, Pruritus, Eczema, Erythroderma ORPHA:2897
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Hypoparathyroidism, Atrophic gastritis, Chronic active hepatitis, Premature ovarian insufficiency... OMIM:240300
T-Cell Immunodeficiency With Thymic Aplasia
Aplasia of the thymus, Recurrent bronchopulmonary infections, Recurrent pneumonia, Bronchiectasis... OMIM:242700
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Hepatitis, Cholestasis, Acute hepatic steatosis, Cholesterol gallstones, Macrovesicular hepatic s... ORPHA:209902
Igg4-Related Retroperitoneal Fibrosis
Rheumatoid factor positive, Anti-thyroid peroxidase antibody positivity, Retrograde ejaculation, ... ORPHA:49041
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Acute hepatitis, Homocitrullinuria, Decreased liver function, Hepatomegaly OMIM:238970
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Skin rash, Autoimmunity, Recurrent aphthous stomatitis, Otitis media, Chronic oral candidiasis, R... ORPHA:275
Centrifugal Lipodystrophy
Reduced subcutaneous adipose tissue, Inflammatory abnormality of the skin, Lipoatrophy, Lack of f... ORPHA:90156
Van Den Bosch Syndrome
Recurrent respiratory infections, Recurrent skin infections ORPHA:3417
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Recurrent skin infections, Asthma, Recurrent upper respiratory tract infections, Recurrent pneumo... OMIM:619752
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Elevated hepatic transaminase, Predominantly dermal neutrophilic infiltrate, Superficial dermal p... ORPHA:284426
Immunodeficiency 32B
Recurrent respiratory infections, Hepatomegaly, Sinusitis, Pneumonia, Splenomegaly, Bronchiectasis OMIM:226990
Common Variable Immunodeficiency
Elevated hepatic transaminase, Recurrent respiratory infections, Pneumonia, Autoimmune thrombocyt... ORPHA:1572
Inflammatory Skin And Bowel Disease, Neonatal, 2
Pustule, Recurrent pneumonia, Recurrent bronchiolitis OMIM:616069
Immunodeficiency 89 And Autoimmunity
Pulmonary bulla, Rheumatoid factor positive, Antinuclear antibody positivity, Pleural thickening,... OMIM:619632
Isolated Sedoheptulokinase Deficiency
Renal insufficiency, Portal hypertension, Neonatal asphyxia, Hepatitis, Cholestasis, Cholestatic ... ORPHA:440713
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Acute pancreatitis, Rheumatoid factor positive, Eczema, Perianal abscess, Lymphadenitis, Splenome... OMIM:618935
Pemphigus Erythematosus
Autoimmunity, Antinuclear antibody positivity, Anti-acetylcholine receptor antibody positivity, S... ORPHA:79480
Trichohepatoenteric Syndrome 2
Hepatomegaly, Colitis, Cirrhosis, Chronic hepatitis OMIM:614602
Pediatric Systemic Lupus Erythematosus
Dark urine, Myositis, Antiphospholipid antibody positivity, Skin rash, Renal insufficiency, Antin... ORPHA:93552
Yao Syndrome
Inflammatory abnormality of the skin, Pericarditis, Skin rash, Asthma, Nephrolithiasis, Arthritis... OMIM:617321
Relapsing Polychondritis
Uveitis, Conjunctivitis, Cough, Chondritis, Glomerulopathy, Atelectasis, Hepatitis, Scleritis, Ab... ORPHA:728
Prolidase Deficiency
Hepatomegaly, Eczema, Elevated circulating aspartate aminotransferase concentration, Hyperimidodi... OMIM:170100
Antisynthetase Syndrome
Recurrent respiratory infections, Myositis, Skin rash, Autoimmunity, Pruritus, Myocarditis, Abnor... ORPHA:81
Wiskott-Aldrich Syndrome 2
Eczema OMIM:614493
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Acne, Sterile arthritis, Hepatosplenomegaly, Arthritis, Colitis, Cystic acne OMIM:604416
Complement Factor I Deficiency
Renal insufficiency, Recurrent urinary tract infections, Recurrent skin infections, Glomeruloneph... OMIM:610984
Congenital Isolated Acth Deficiency
Hepatitis, Prolonged neonatal jaundice ORPHA:199296
Elastosis Perforans Serpiginosa
Crusting erythematous dermatitis ORPHA:79148
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Hepatomegaly, Skin rash, Allergic rhinitis, Splenomegaly, Asthma, Jaundice, Exocrine pancreatic i... OMIM:612714
Autosomal Dominant Severe Congenital Neutropenia
Recurrent sinopulmonary infections, Recurrent skin infections, Pneumonia, Rhinitis, Periodontitis... ORPHA:486
Slc35A1-Cdg
Respiratory distress, Pneumonia, Pulmonary hemorrhage, Hypoxemia ORPHA:238459
Hypocomplementemic Urticarial Vasculitis
Episcleritis, Hepatomegaly, Glomerulopathy, Renal insufficiency, Skin rash, Autoimmunity, Protein... ORPHA:36412
Idiopathic Chronic Eosinophilic Pneumonia
Autoimmunity, Crackles, Dyspnea, Nonproductive cough, Atelectasis, Wheezing, Asthma, Hypersensiti... ORPHA:2902
Autoinflammation, Immune Dysregulation, And Eosinophilia
Eosinophilic liver infiltration, Asthma, Atopic dermatitis, Hepatosplenomegaly, Membranous nephro... OMIM:618999
Bullous Diffuse Cutaneous Mastocytosis
Pruritus, Cardiorespiratory arrest, Erythroderma ORPHA:280785
Intellectual Developmental Disorder, Autosomal Recessive 79
Eczema, Oligomenorrhea OMIM:620393
Primary Ciliary Dyskinesia
Asplenia, Chronic otitis media, Abnormal sperm motility, Male infertility, Neonatal respiratory d... ORPHA:244
Immunodeficiency 60 And Autoimmunity
Recurrent sinopulmonary infections, Splenomegaly, Bronchiectasis, Ulcerative colitis, Colitis, Pu... OMIM:618394
Fusariosis
Fasciitis, Sinusitis, Maculopapular exanthema, Myositis, Pneumonia, Productive cough, Keratitis, ... ORPHA:228119
Zygomycosis
Fasciitis, Sinusitis, Acute infectious pneumonia, Colitis, Cough, Nephritis, Infectious encephali... ORPHA:73263
Adult Acute Respiratory Distress Syndrome
Pneumonia, Dyspnea, Hypoxemia, Respiratory failure, Abnormal blood gas level, Pancreatitis, Pulmo... ORPHA:70578
Simple Cryoglobulinemia
Viral hepatitis, Pericarditis, Membranoproliferative glomerulonephritis, Rheumatoid factor positi... ORPHA:91139
Staphylococcal Necrotizing Pneumonia
Respiratory distress, Pneumonia, Nonproductive cough, Dyspnea, Tachypnea, Pneumothorax, Acute inf... ORPHA:36238
Immunodeficiency 65, Susceptibility To Viral Infections
Stomatitis, Bronchiectasis OMIM:618648
Selective Igm Deficiency
Fasciitis, Lymphadenitis, Recurrent cutaneous fungal infections, Otitis media, Recurrent vulvovag... ORPHA:331235
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Abnormal circulating enzyme concentration or activity, Respiratory insufficiency due to muscle we... ORPHA:2590
Absence Of Fingerprints-Congenital Milia Syndrome
Skin rash ORPHA:1658
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Autoimmunity, Eczema, Recurrent pneumonia, Septic arthritis, Increased circulating lactate dehydr... OMIM:617780
Familial Cold Autoinflammatory Syndrome 2
Skin rash, Erythema nodosum, Splenomegaly, Arthritis, Recurrent aphthous stomatitis OMIM:611762
Griscelli Syndrome
Splenomegaly, Hepatomegaly, Jaundice, Hepatitis ORPHA:381
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hepatomegaly, Skin rash, Splenomegaly, Jaundice, Conjunctivitis OMIM:603552
Combined Immunodeficiency-Enteropathy Spectrum
Autoimmune hemolytic anemia, Psoriasiform dermatitis, Autoimmunity, Hepatitis, Hypoplasia of the ... ORPHA:436252
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis
Restrictive ventilatory defect, Erysipelas, Pulmonary fibrosis, Hepatomegaly OMIM:615704
Immunodeficiency 109 With Lymphoproliferation
Splenomegaly, Recurrent lower respiratory tract infections, Bronchiectasis, Recurrent sinusitis OMIM:620282
Ebola Hemorrhagic Fever
Acute pancreatitis, Maculopapular exanthema, Dyspnea, Hepatitis, Cough ORPHA:319218
Meconium Aspiration Syndrome
Respiratory distress, Neonatal asphyxia, Wheezing, Atelectasis, Pneumothorax, Hypoxemia, Aspirati... ORPHA:70588
Autoimmune Polyendocrine Syndrome, Type Ii
Asplenia, Hepatitis, Chronic mucocutaneous candidiasis, Keratoconjunctivitis, Chronic hepatitis, ... OMIM:269200
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy
Recurrent aspiration pneumonia OMIM:619971
Drug-Induced Lupus Erythematosus
Pericarditis, Antinuclear antibody positivity, Dyspnea, Autoimmune antibody positivity, Hematuria... ORPHA:231111
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Hepatomegaly, Portal hypertension, Pancreatic cysts, Splenomegaly, Anti-thyroid peroxidase antibo... OMIM:610199
Aicardi-Goutieres Syndrome 6
Splenomegaly, Hepatomegaly, Chilblains OMIM:615010
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3
Pneumonia OMIM:608033
Indolent Systemic Mastocytosis
Hepatomegaly, Skin rash, Maculopapular exanthema, Pruritus, Splenomegaly, Elevated total serum tr... ORPHA:98848
Gamma-Heavy Chain Disease
Recurrent respiratory infections, Hepatomegaly, Autoimmune hemolytic anemia, Skin rash, Autoimmun... ORPHA:100026
Yellow Nail Syndrome
Recurrent respiratory infections, Renal neoplasm, Sinusitis, Biliary tract neoplasm, Dyspnea, Nep... ORPHA:662
Vexas Syndrome
Inflammatory abnormality of the skin, Neutrophilic infiltration of the skin, Chondritis of pinna,... OMIM:301054
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Recurrent bacterial skin infections, Hepatomegaly, Skin rash, Pneumonia, Cough, Jaundice, Recurre... ORPHA:276
Mucopolysaccharidosis Type 7
Recurrent respiratory infections, Abnormal pleura morphology, Splenomegaly, Hepatitis, Mucopolysa... ORPHA:584
Cutaneous Small Vessel Vasculitis
Recurrent skin infections, Skin rash ORPHA:889
Kawasaki Disease
Pericarditis, Skin rash, Proteinuria, Recurrent pharyngitis, Myocarditis, Jaundice, Hepatitis, Ab... ORPHA:2331
Proteasome-Associated Autoinflammatory Syndrome 2
Neutrophilic infiltration of the skin, Lipodystrophy, Skin rash, Antinuclear antibody positivity,... OMIM:618048
Sting-Associated Vasculopathy, Infantile-Onset
Recurrent respiratory infections, Myositis, Antiphospholipid antibody positivity, Skin rash, Rheu... OMIM:615934
Immunodeficiency 25
Autoimmune hemolytic anemia, Recurrent pneumonia, Smooth muscle antibody positivity, Erythroderma... OMIM:610163
Acute Interstitial Pneumonia
Peribronchovascular interstitial thickening, Nodular pattern on pulmonary HRCT, Crackles, Nonprod... ORPHA:79126
Retinitis Pigmentosa 82 With Or Without Situs Inversus
Decreased nasal nitric oxide, Bronchiectasis, Productive cough, Reduced sperm motility OMIM:615434
Bleeding Disorder, Platelet-Type, 21
Psoriasiform dermatitis, Menorrhagia, Eczema OMIM:617443
Autoimmune Lymphoproliferative Syndrome, Type Iia
Hepatomegaly, Autoimmune hemolytic anemia, Antiphospholipid antibody positivity, Rheumatoid facto... OMIM:603909
Bronchogenic Cyst
Abnormal peritoneum morphology, Pulmonary cyst, Pneumonia, Abnormal pleura morphology, Dyspnea, A... ORPHA:2357
Majeed Syndrome
Inflammatory abnormality of the skin, Osteomyelitis, Skin rash, Hepatosplenomegaly OMIM:609628
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Recurrent upper respiratory tract infections, Pneumonia, Chronic bronchitis OMIM:614069
Classic Mycosis Fungoides
Hepatomegaly, Skin rash, Eczema, Pruritus, Splenomegaly ORPHA:2584
Dermatitis Herpetiformis
Pruritus, Autoimmunity, Eczema ORPHA:1656
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency
Lymphadenitis, Salmonella osteomyelitis, Pneumonia ORPHA:319552
Purine Nucleoside Phosphorylase Deficiency
Autoimmune hemolytic anemia, Sinusitis, Recurrent urinary tract infections, Pneumonia, Autoimmune... OMIM:613179
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Diffuse mesangial sclerosis, Hepatomegaly, Inflammatory abnormality of the skin, Sinusitis, Skin ... OMIM:102700
Complete Androgen Insensitivity Syndrome
Male infertility, Acne, Abnormal uterine cervix morphology, Testicular neoplasm, Elevated circula... ORPHA:99429
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Splenomegaly, Recurrent pneumonia, Bronchiectasis, Recurrent aphthous stomatitis, Chronic oral ca... OMIM:150550
Periodic Fever, Familial, Autosomal Dominant
Hepatomegaly, Myositis, Skin rash, Maculopapular exanthema, Oligoarthritis, Hepatic amyloidosis, ... OMIM:142680
Cleft Velum
Recurrent otitis media, Aspiration pneumonia ORPHA:99772
Pulmonary Non-Tuberculous Mycobacterial Infection
Respiratory distress, Crackles, Dyspnea, Chronic pulmonary obstruction, Pneumothorax, Bronchiecta... ORPHA:411703
Immunodeficiency 69
Splenomegaly, Skin rash, Hepatosplenomegaly OMIM:618963
Neurodevelopmental Disorder With Or Without Early-Onset Generalized Epilepsy
Eczema OMIM:619157
Majeed Syndrome
Hepatomegaly, Inflammatory abnormality of the skin, Osteomyelitis, Acne, Glomerulopathy, Proteinu... ORPHA:77297
Iga Pemphigus
Neutrophilic infiltration of the skin, Pustule, Pruritus, Autoimmune antibody positivity, Ulcerat... ORPHA:555905
Pruritic Urticarial Papules And Plaques Of Pregnancy
Pruritus, Pruritis on abdomen, Pruritus on foot, Pruritis on hand, Pruritis on breast, Palmar pru... ORPHA:64745
Stuve-Wiedemann Syndrome 2
Respiratory distress, Pulmonary arterial hypertension, Eczema OMIM:619751
Diarrhea 12, With Microvillus Atrophy
Respiratory tract infection, Bronchiectasis OMIM:619445
Combined Immunodeficiency Due To Crac Channel Dysfunction
Hepatomegaly, Autoimmunity, Pneumonia, Splenomegaly, Chronic otitis media ORPHA:169090
Schnitzler Syndrome
Hepatomegaly, Skin rash, Pruritus, Splenomegaly, Arthritis ORPHA:37748
Pemphigus Foliaceus
Psoriasiform dermatitis, Autoimmunity, Pustule, Pruritus, Crusting erythematous dermatitis, Eryth... ORPHA:79481
Immunodeficiency 92
Hepatomegaly, Osteomyelitis, Pneumonia, Cholangitis, Sclerosing cholangitis, Esophagitis OMIM:619652
Reticular Dysgenesis
Chronic otitis media, Recurrent respiratory infections, Skin rash ORPHA:33355
Grubben-De Cock-Borghgraef Syndrome
Eczema ORPHA:2101
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Recurrent respiratory infections, Recurrent urinary tract infections, Hepatomegaly, Recurrent ski... OMIM:620210
Bronchial Neuroendocrine Tumor
Hepatomegaly, Pneumonia, Elevated circulating growth hormone concentration, Dyspnea, Nonproductiv... ORPHA:97287
Erythema Elevatum Diutinum
Skin rash ORPHA:90000
Aicardi-Goutieres Syndrome 7
Hepatomegaly, Atrophic gastritis, Skin rash, Pneumonia, Chilblains, Splenomegaly, Hepatitis, Atop... OMIM:615846
Microscopic Polyangiitis
Episcleritis, Increased inflammatory response, Pericarditis, Sinusitis, Skin rash, Epistaxis, Aut... ORPHA:727
Neonatal Lupus Erythematosus
Elevated hepatic transaminase, Hepatomegaly, Skin rash, Maculopapular exanthema, Splenomegaly, Au... ORPHA:398124
Immunodeficiency 82 With Systemic Inflammation
Osteomyelitis, Skin rash, Pneumonia, Bronchitis, Recurrent skin infections, Gastritis, Splenomega... OMIM:619381
Wilson Disease
Acute hepatic failure, Osteoarthritis, Aminoaciduria, Hepatic steatosis, Hypoparathyroidism, Hepa... OMIM:277900
Late-Onset Isolated Acth Deficiency
Hypoparathyroidism, Premature ovarian insufficiency, Autoimmunity, Pituitary adenoma, Adrenocorti... ORPHA:199299
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Recurrent lower respiratory tract infections, Recurrent skin infections OMIM:617744
Neutropenia, Severe Congenital, X-Linked
Eczema OMIM:300299
Mullerian Aplasia And Hyperandrogenism
Abnormal external genitalia, Acne, Unilateral renal agenesis, Primary amenorrhea, Aplasia of the ... OMIM:158330
Cryptococcosis
Respiratory distress, Osteomyelitis, Pneumonia, Nodular pattern on pulmonary HRCT, Autoimmunity, ... ORPHA:1546
Idiopathic Hypereosinophilic Syndrome
Respiratory distress, Elevated hepatic transaminase, Inflammatory abnormality of the skin, Cholan... ORPHA:3260
Acral Peeling Skin Syndrome
Eczema ORPHA:263534
Classic Hodgkin Lymphoma
Hepatomegaly, Skin rash, Pruritus, Splenomegaly, Respiratory insufficiency, Cough ORPHA:391
Orofaciodigital Syndrome Viii
Recurrent aspiration pneumonia OMIM:300484
Immune-Mediated Necrotizing Myopathy
Myositis, Skin rash, Myocarditis, Autoimmune antibody positivity, Abnormal pulmonary interstitial... ORPHA:206569
Congenital Multicore Myopathy With External Ophthalmoplegia
Recurrent respiratory infections, Small scrotum, Pneumonia, Cryptorchidism, Abnormal respiratory ... ORPHA:98905
Typhoid
Hepatomegaly, Skin rash, Epistaxis, Splenomegaly, Abnormal pulmonary interstitial morphology, Cou... ORPHA:99745
Lymphoproliferative Syndrome, X-Linked, 1
Recurrent respiratory infections, Hepatomegaly, Recurrent pharyngitis, Fulminant hepatitis, Splen... OMIM:308240
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant
Eczema, Thyroiditis OMIM:618985
Epidermodysplasia Verruciformis
Pustule, Recurrent skin infections, Seborrheic dermatitis ORPHA:302
Acute Disseminated Encephalomyelitis
Respiratory failure requiring assisted ventilation, Viral hepatitis, Anti-myelin oligodendrocyte ... ORPHA:83597
American Trypanosomiasis
Hepatomegaly, Skin rash, Dyspnea, Myocarditis, Splenomegaly, Autoimmune antibody positivity, Coug... ORPHA:3386
Cutaneous Collagenous Vasculopathy
Pruritus, Skin rash ORPHA:280779
Muckle-Wells Syndrome
Episcleritis, Hepatomegaly, Skin rash, Splenomegaly, Uveitis, Restrictive ventilatory defect, Art... ORPHA:575
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Pneumonia, Sinusitis, Bronchiectasis, Chronic bronchitis OMIM:242860
Familial Cold Autoinflammatory Syndrome 1
Skin rash, Uveitis, Arthritis, Conjunctivitis, Renal amyloidosis OMIM:120100
Zinc Deficiency, Transient Neonatal
Eczema OMIM:608118
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Bronchiolitis obliterans, Hypoplasia of the thymus, Eczema OMIM:617241
Brucellosis
Liver abscess, Rheumatoid factor positive, Bronchitis, Knee osteoarthritis, Abnormality of the li... ORPHA:1304
Coccidioidomycosis
Respiratory distress, Abnormality of the spleen, Abnormality of the liver, Morbilliform rash, Cou... ORPHA:228123
Rift Valley Fever
Elevated hepatic transaminase, Skin rash, Jaundice, Hepatitis, Uveitis, Hematuria, Infectious enc... ORPHA:319251
Mixed Connective Tissue Disease
Hepatomegaly, Myositis, Pericarditis, Skin rash, Gastritis, Autoimmunity, Dyspnea, Myocarditis, S... ORPHA:809
Netherton Syndrome
Recurrent respiratory infections, Recurrent skin infections, Allergic rhinitis, Eczema, Asthma, C... OMIM:256500
Pseudopelade Of Brocq
Recurrent skin infections, Cheilitis ORPHA:129
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Psoriasiform dermatitis, Acne, Osteomyelitis, Skin rash, Pruritus, Arthritis, Inflammation of the... ORPHA:324964
Bone Marrow Failure Syndrome 4
Recurrent respiratory infections, Eczema OMIM:618116
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Recurrent respiratory infections, Lymphadenitis, Chronic pulmonary obstruction, Recurrent pneumon... OMIM:618986
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Recurrent respiratory infections, Tracheobronchial leiomyomatosis, Proteinuria, Vaginal neoplasm,... ORPHA:1018
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Endometrial carcinoma, Adrenal hyperplasia, Pneumonia, Jaundice, Male pseudohermaphroditism, Macr... ORPHA:90790
Eosinophilic Granulomatosis With Polyangiitis
Increased inflammatory response, Myositis, Sinusitis, Recurrent intrapulmonary hemorrhage, Skin r... ORPHA:183
Whim Syndrome
Sinusitis, Severe periodontitis, Pneumonia, Respiratory tract infection, Lymphadenitis, Atelectas... ORPHA:51636
Pulmonary Alveolar Microlithiasis
Calcium nephrolithiasis, Bronchitis, Nonproductive cough, Tachypnea, Gonadal calcification, Oxyge... ORPHA:60025
Cirrhosis, Familial
Fulminant hepatitis, Micronodular cirrhosis, Jaundice, Biliary cirrhosis, Increased level of L-fu... OMIM:215600
Mitochondrial Complex I Deficiency, Nuclear Type 33
Hypospadias, Apnea, Bronchiectasis, Respiratory insufficiency, Aspiration pneumonia OMIM:618253
Dominant Beta-Thalassemia
Hypoparathyroidism, Hypersplenism, Dyspnea, Splenomegaly, Jaundice, Hepatosplenomegaly, Chronic h... ORPHA:231226
Estrogen Resistance
Elevated alkaline phosphatase of bone origin, Acne, Primary amenorrhea, Polycystic ovaries, Hypop... OMIM:615363
Sjogren Syndrome
Tubulointerstitial nephritis, Keratoconjunctivitis sicca, Autoimmunity, Rheumatoid arthritis OMIM:270150
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Elevated hepatic transaminase, Recurrent respiratory infections, Hepatomegaly, Portal hypertensio... ORPHA:79124
Riddle Syndrome
Pneumonia, Bronchitis, Neonatal asphyxia, Recurrent pneumonia, Abnormal pulmonary interstitial mo... ORPHA:420741
Hyperzincemia With Functional Zinc Depletion
Hepatomegaly, Skin rash OMIM:601979
Leptospirosis
Respiratory distress, Hepatomegaly, Pericarditis, Skin rash, Cellular urinary casts, Jaundice, He... ORPHA:509
Cystic Fibrosis
Male infertility, Hepatomegaly, Reduced forced expiratory volume in one second, Reduced forced vi... OMIM:219700
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Restrictive ventilatory defect, Pneumonia OMIM:253700
Netherton Syndrome
Recurrent respiratory infections, Skin rash, Eczema, Ectopic kidney, Asthma, Aminoaciduria, Eryth... ORPHA:634
Nocardiosis
Respiratory distress, Liver abscess, Lymphadenitis, Nonproductive cough, Conjunctivitis, Emphysem... ORPHA:31204
Immunodeficiency 81
Recurrent cutaneous abscess formation, Autoimmune hemolytic anemia, Skin rash OMIM:619374
Immunodeficiency 97 With Autoinflammation
Recurrent sinopulmonary infections, Autoimmune hemolytic anemia, Recurrent urinary tract infectio... OMIM:619802
Immunodeficiency 12
Skin rash, Cheilitis, Bronchiectasis, Recurrent aphthous stomatitis, Recurrent lower respiratory ... OMIM:615468
Roifman-Chitayat Syndrome
Arthritis, Pneumonia, Ectopic kidney OMIM:613328
Oculopharyngodistal Myopathy
Respiratory insufficiency due to muscle weakness, Restrictive ventilatory defect, Recurrent aspir... ORPHA:98897
Chronic Granulomatous Disease
Recurrent respiratory infections, Hepatomegaly, Sinusitis, Liver abscess, Eczema, Splenomegaly, C... ORPHA:379
Cranio-Osteoarthropathy
Arthritis, Osteoarthritis, Eczema ORPHA:1525
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Hepatomegaly, Aplasia of the thymus, Pneumonia, Genital ulcers, Splenomegaly, Recurrent upper res... OMIM:602450
Spontaneous Periodic Hypothermia
Skin rash, Abnormal pattern of respiration ORPHA:29822
Psoriasis-Related Juvenile Idiopathic Arthritis
Anterior uveitis, Psoriasiform dermatitis, Skin rash, Autoimmunity, Pruritus, Iridocyclitis, Anti... ORPHA:85436
Omenn Syndrome
Hepatomegaly, Pneumonia, Splenomegaly, Hypoplasia of the thymus, Erythroderma OMIM:603554
Spondyloenchondrodysplasia With Immune Dysregulation
Recurrent respiratory infections, Pneumonia, Autoimmunity, Autoimmune thrombocytopenia, Antinucle... OMIM:607944
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Eczema, Autoimmunity, Chronic mucocutaneous candidiasis, Inflammation of the large intestine, Rec... ORPHA:98813
Uremic Pruritus
Inflammatory abnormality of the skin, Recurrent skin infections, Pruritus, Chronic kidney disease... ORPHA:94059
Pyoderma Gangrenosum
Pustule, Myositis, Rheumatoid arthritis, Inflammation of the large intestine ORPHA:48104
Bazex-Dupre-Christol Syndrome
Atopic dermatitis, Eczema, Acne inversa OMIM:301845
Immunodeficiency 85 And Autoimmunity
Recurrent respiratory infections, Eczema, Oligoarthritis, Pulmonary fibrosis, Erythroderma OMIM:619510
Insulin-Resistance Syndrome Type B
Enlarged ovaries, Skin rash, Pneumonia, Autoimmunity, Proteinuria, Antinuclear antibody positivit... ORPHA:2298
Bloom Syndrome
Male infertility, Recurrent urinary tract infections, Premature ovarian insufficiency, Skin rash,... ORPHA:125
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Elevated hepatic transaminase, Hepatomegaly, Oroticaciduria, Tachypnea, Hepatitis, Decreased live... ORPHA:415
Listeriosis
Respiratory distress, Liver abscess, Conjunctivitis, Cholecystitis, Infectious encephalitis, Unus... ORPHA:533
Good Syndrome
Recurrent respiratory infections, Recurrent urinary tract infections, Sinusitis, Recurrent skin i... ORPHA:169105
Pgm3-Cdg
Recurrent respiratory infections, Membranoproliferative glomerulonephritis, Osteomyelitis, Eczema... ORPHA:443811
Generalized Pseudohypoaldosteronism Type 1
Osteomyelitis, Pustule, Wheezing, Atopic dermatitis, Cough, Cholelithiasis, Recurrent upper and l... ORPHA:171876
Scrub Typhus
Anterior uveitis, Renal insufficiency, Skin rash, Dyspnea, Myocarditis, Splenomegaly, Restrictive... ORPHA:83317
Fixed Drug Eruption
Stomatitis, Crusting erythematous dermatitis, Vaginal mucosal ulceration ORPHA:293812
Reynolds Syndrome
Hepatomegaly, Skin rash, Pruritus, Jaundice, Respiratory insufficiency, Arthritis, Keratoconjunct... ORPHA:779
Hatipoglu Immunodeficiency Syndrome
Hypospadias, Eczema, Cryptorchidism, Asthma, Atopic dermatitis, Recurrent otitis media, Recurrent... OMIM:620331
Acute Generalized Exanthematous Pustulosis
Elevated hepatic transaminase, Predominantly dermal neutrophilic infiltrate, Renal insufficiency,... ORPHA:293173
Reynolds Syndrome
Elevated hepatic transaminase, Hepatomegaly, Erythema nodosum, Pruritus, Splenomegaly, Jaundice, ... OMIM:613471
Immunodeficiency 17
Recurrent respiratory infections, Autoimmune hemolytic anemia, Eczema, Anoperineal fistula, Chron... OMIM:615607
Holocarboxylase Synthetase Deficiency
Respiratory distress, Eczema, Tachypnea, Keratoconjunctivitis, Organic aciduria, Perioral eczema ORPHA:79242
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency
Renal tubular acidosis, Decreased activity of NADPH oxidase, Organic aciduria, Aspiration pneumon... ORPHA:431361
Inflammatory Skin And Bowel Disease, Neonatal, 1
Pustule, Blepharitis, Erythroderma OMIM:614328
Proteasome-Associated Autoinflammatory Syndrome 3
Elevated hepatic transaminase, Hepatomegaly, Myositis, Sinusitis, Skin rash, Lipodystrophy, Splen... OMIM:617591
Congenital Tracheomalacia
Apnea, Decreased peak expiratory flow, Cough, Emphysema, Neonatal respiratory distress, Intercost... ORPHA:95430
Necrobiosis Lipoidica
Inflammatory abnormality of the skin ORPHA:542592
B4Galt1-Cdg
Elevated hepatic transaminase, Hepatomegaly, Inflammatory abnormality of the skin, Abnormal circu... ORPHA:79332
Rat-Bite Fever
Pericarditis, Maculopapular exanthema, Skin rash, Erythema nodosum, Lymphadenitis, Pustule, Myoca... ORPHA:31205
Candidiasis, Familial, 8
Chronic oral candidiasis, Blepharitis, Cheilitis, Seborrheic dermatitis OMIM:615527
Ectodermal Dysplasia 15, Hypohidrotic/Hair Type
Pruritus, Blepharitis, Eczema OMIM:618535
Juvenile Neuronal Ceroid Lipofuscinosis
Abnormal circulating enzyme concentration or activity, Apnea, Episodic tachypnea, Aspiration pneu... ORPHA:79264
Ciliary Dyskinesia, Primary, 20
Recurrent respiratory infections, Productive cough, Atelectasis, Pulmonary artery stenosis, Recur... OMIM:615067
Autosomal Dominant Hypohidrotic Ectodermal Dysplasia
Eczema ORPHA:1810
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Hepatomegaly, Crackles, Atelectasis, Dyspnea, Asthma, Wheezing, Bronchiectasis, Abnormal pulmonar... OMIM:620233
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Skin rash, Pneumonia, Proteinuria, Nodular regenerative hyperplasia of liver, Elevated circulatin... ORPHA:247691
Timothy Syndrome
Pulmonary arterial hypertension, Pneumonia, Bronchitis OMIM:601005
Immunodeficiency 23
Recurrent respiratory infections, Membranoproliferative glomerulonephritis, Rheumatoid factor pos... OMIM:615816
Maternal Uniparental Disomy Of Chromosome 6
Hydrocele testis, Congenital adrenal hyperplasia, Eczema, Clitoral hypertrophy ORPHA:96181
Cyclic Neutropenia
Sinusitis, Recurrent skin infections, Perianal abscess, Respiratory tract infection, Peritonitis,... ORPHA:2686
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Recurrent respiratory infections, Autoimmune hemolytic anemia, Psoriasiform dermatitis, Eczema, E... OMIM:606367
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Recurrent bacterial skin infections, Hepatomegaly, Osteomyelitis, Liver abscess, Discoid lupus ra... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Recurrent bacterial skin infections, Hepatomegaly, Osteomyelitis, Liver abscess, Discoid lupus ra... OMIM:233710
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Hepatomegaly, Inflammatory abnormality of the skin, Elevated hepatic transa... ORPHA:26793
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Respiratory distress, Hepatomegaly, Osteomyelitis, Skin rash, Pustule, Splenomegaly, Pulmonary fi... OMIM:612852
Car T Cell Therapy-Associated Cytokine Release Syndrome
Elevated hepatic transaminase, Increased inflammatory response, Skin rash, Tachypnea, Hypoxemia, ... ORPHA:542323
Granulomatosis With Polyangiitis
Sinusitis, Otitis media, Cough, Chronic otitis media, Glomerulopathy, Ureteral stenosis, Chronic ... ORPHA:900
Leukocyte Adhesion Deficiency, Type Iii
Hepatomegaly, Recurrent skin infections, Epistaxis, Splenomegaly, Hepatosplenomegaly OMIM:612840
Xq12-Q13.3 Duplication Syndrome
Cryptorchidism, Low alkaline phosphatase, Recurrent upper respiratory tract infections, Eczema ORPHA:314389
Zika Virus Disease
Maculopapular exanthema, Skin rash, Pruritus, Arthritis, Conjunctivitis, Infectious encephalitis,... ORPHA:448237
Familial Hemophagocytic Lymphohistiocytosis
Elevated hepatic transaminase, Hepatomegaly, Skin rash, Maculopapular exanthema, Splenomegaly, Ja... ORPHA:540
Fanconi Anemia, Complementation Group F
Pneumonia, Decreased response to growth hormone stimulation test, Cryptorchidism, Renal hypoplasi... OMIM:603467
Psoriasis 14, Pustular
Pustule, Psoriasiform dermatitis, Oligoarthritis, Cholangitis OMIM:614204
Immunodeficiency 59 And Hypoglycemia
Hepatomegaly, Recurrent skin infections, Herpes simplex encephalitis, Recurrent upper respiratory... OMIM:233600
Milroy Disease
Hydrocele testis, Erysipelas ORPHA:79452
Melkersson-Rosenthal Syndrome
Inflammatory abnormality of the skin, Cheilitis, Oligosacchariduria ORPHA:2483
Biotinidase Deficiency
Hepatomegaly, Skin rash, Apnea, Recurrent skin infections, Seborrheic dermatitis, Splenomegaly, T... OMIM:253260
Müllerian Aplasia And Hyperandrogenism
Renal agenesis, Acne, Primary amenorrhea, Hypoplasia of the uterus, Abnormal vagina morphology, A... ORPHA:247768
Sporadic Creutzfeldt-Jakob Disease
Respiratory failure requiring assisted ventilation, Recurrent aspiration pneumonia ORPHA:204
Granulomatous Disease, Chronic, Autosomal Recessive, 3
Colitis, Anoperineal fistula, Recurrent aphthous stomatitis, Recurrent sinusitis, Perioral eczema OMIM:613960
Lipoid Proteinosis
Pustule, Recurrent respiratory infections, Acne ORPHA:530
Peeling Skin Syndrome 6
Pruritus, Atopic dermatitis OMIM:618084
Mirage Syndrome
Recurrent urinary tract infections, Hypergonadotropic hypogonadism, Hypospadias, Cryptorchidism, ... OMIM:617053
Alpha-Mannosidosis, Adult Form
Oligosacchariduria, Pneumonia, Hepatosplenomegaly ORPHA:309288
Blue Rubber Bleb Nevus
Skin rash ORPHA:1059
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Recurrent bacterial skin infections, Hepatomegaly, Osteomyelitis, Liver abscess, Discoid lupus ra... OMIM:233690
Behcet Syndrome
Genital ulcers, Erythema nodosum, Iridocyclitis, Epididymitis, Arthritis, Iritis, Decreased level... OMIM:109650
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Elevated hepatic transaminase, Hepatomegaly, Autoimmune hemolytic anemia, Skin rash, Autoimmunity... ORPHA:331206
Shigellosis
Pneumonia, Hemolytic-uremic syndrome, Myocarditis, Peritonitis, Urethritis, Uveitis, Ulcerative c... ORPHA:810
Immunodeficiency 68
Lymphadenitis, Recurrent skin infections, Septic arthritis OMIM:612260
Familial Mediterranean Fever
Hepatomegaly, Pericarditis, Orchitis, Splenomegaly, Peritonitis, Stage 5 chronic kidney disease, ... OMIM:249100
Lead Poisoning
Decreased female libido, Skin rash, Abnormality of the menstrual cycle, Asthma, Chronic kidney di... ORPHA:330015
Alström Syndrome
Respiratory distress, Urinary incontinence, Decreased response to growth hormone stimulation test... ORPHA:64
Boutonneuse Fever
Elevated hepatic transaminase, Renal insufficiency, Skin rash, Maculopapular exanthema, Respirato... ORPHA:83313
Papillon-Lefèvre Syndrome
Recurrent cutaneous abscess formation, Recurrent respiratory infections, Liver abscess, Severe pe... ORPHA:678
Familial Benign Copper Deficiency
Acne ORPHA:1551
Cinca Syndrome
Arthritis, Skin rash, Uveitis, Hepatosplenomegaly OMIM:607115
Acute Liver Failure
Elevated hepatic transaminase, Skin rash, Jaundice, Hepatitis, Abnormal respiratory system physio... ORPHA:90062
Immunodeficiency 36 With Lymphoproliferation
Autoimmunity, Splenomegaly, Recurrent upper respiratory tract infections, Bronchiectasis, Recurre... OMIM:616005
Sapho Syndrome
Psoriasiform dermatitis, Acne, Osteomyelitis, Skin rash, Recurrent skin infections, Pustule, Syno... ORPHA:793
Refractory Celiac Disease
Elevated hepatic transaminase, Inflammatory abnormality of the skin, Elevated alkaline phosphatas... ORPHA:398063
Mucoepithelial Dysplasia, Hereditary
Pneumonia, Recurrent pneumonia, Chronic mucocutaneous candidiasis, Keratoconjunctivitis, Hematuri... OMIM:158310
Immunodeficiency 105
Skin rash, Hepatosplenomegaly OMIM:619924
Galloway-Mowat Syndrome 7
Diffuse mesangial sclerosis, Proteinuria, Eczema, Minimal change glomerulonephritis, Stage 5 chro... OMIM:618348
Immunodeficiency 31C
Recurrent respiratory infections, Hepatomegaly, Osteomyelitis, Autoimmune hemolytic anemia, Eczem... OMIM:614162
Severe Generalized Junctional Epidermolysis Bullosa
Respiratory distress, Urethral stricture, Renal cyst, Gastrointestinal inflammation, Aplasia/Hypo... ORPHA:79404
Immunodeficiency 96
Recurrent otitis media, Recurrent lower respiratory tract infections, Multicystic kidney dysplasi... OMIM:619774
Systemic Lupus Erythematosus
Proteinuria, Lupus nephritis, Pyuria, Discoid lupus rash, Antinuclear antibody positivity, Anti-L... ORPHA:536
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2
Acne, Seborrheic dermatitis OMIM:614441
Hermansky-Pudlak Syndrome 9
Recurrent skin infections OMIM:614171
Classic Pantothenate Kinase-Associated Neurodegeneration
Aspiration pneumonia, Cough ORPHA:216866
Adiposis Dolorosa
Arthritis, Recurrent skin infections, Autoimmunity ORPHA:36397
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Clitoral hypertrophy, Acne, Premature thelarche, Renal salt wasting, Isosexual precocious puberty... ORPHA:90795
Autosomal Dominant Hyper-Ige Syndrome
Recurrent respiratory infections, Osteomyelitis, Skin rash, Eczema, Pruritus, Atelectasis, Cough,... ORPHA:2314
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant
Keratitis, Folliculitis, Conjunctivitis, Blepharitis OMIM:612843
Gaucher Disease
Hepatomegaly, Osteomyelitis, Proteinuria, Splenomegaly, Osteoarthritis, Hepatitis, Respiratory in... ORPHA:355
Familial Mediterranean Fever
Acute hepatic failure, Pericarditis, Skin rash, Proteinuria, Orchitis, Splenomegaly, Osteoarthrit... ORPHA:342
Lujo Hemorrhagic Fever
Respiratory distress, Elevated hepatic transaminase, Renal insufficiency, Maculopapular exanthema... ORPHA:319213
Generalized Pustular Psoriasis
Elevated hepatic transaminase, Renal insufficiency, Pustule, Cheilitis, Uveitis, Arthritis, Palmo... ORPHA:247353
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Psoriasiform dermatitis, Decreased response to growth hormone stimulation test, Autoimmune thromb... ORPHA:293978
Keratosis Follicularis Spinulosa Decalvans, X-Linked
Keratitis, Folliculitis, Conjunctivitis, Blepharitis OMIM:308800
Systemic Sclerosis
Pericarditis, Osteomyelitis, Recurrent skin infections, Glomerulonephritis, Abnormality of the ki... ORPHA:90291
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Recurrent otitis media, Recurrent lower respiratory tract infections, Recurrent upper respiratory... OMIM:600802
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Skin rash, Antinuclear antibody positivity, Recurrent pneumonia, Inflammation of the large intest... OMIM:617718
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Fasciitis, Myositis, Pericarditis, Skin rash, Orchitis, Recurrent pharyngitis, Peritonitis, Splen... ORPHA:32960
Hypertrophic Osteoarthropathy, Primary, Autosomal Dominant
Elevated urinary prostaglandin E2 level, Acne, Seborrheic dermatitis OMIM:167100
Granulomatous Disease, Chronic, X-Linked
Recurrent bacterial skin infections, Hepatomegaly, Osteomyelitis, Liver abscess, Discoid lupus ra... OMIM:306400
Aicardi-Goutieres Syndrome 9
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Pericarditis, Renal insufficienc... OMIM:619487
Dengue Fever
Hepatomegaly, Skin rash, Epistaxis, Pruritus, Cardiorespiratory arrest ORPHA:99828
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, Genital Anomalies, And Immunodeficiency
Hypospadias, Eczema, Decreased response to growth hormone stimulation test, Bilateral cryptorchid... OMIM:618336
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Hepatomegaly, Ketonuria, Lacticaciduria, Aspiration pneumonia OMIM:619167
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type
Hypoplastic sweat glands, Eczema, Acne inversa OMIM:617337
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Respiratory distress, Hypoventilation, Apnea, Recurrent pneumonia, Aspiration pneumonia ORPHA:314655
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Recurrent respiratory infections, Skin rash, Pustule, Acute otitis media, Recurrent pneumonia, He... ORPHA:35078
Hemorrhagic Fever-Renal Syndrome
Respiratory distress, Elevated hepatic transaminase, Anuria, Proteinuria, Pneumonia, Epistaxis, G... ORPHA:340
Chops Syndrome
Cryptorchidism, Splenomegaly, Vesicoureteral reflux, Anomalous pulmonary venous return, Horseshoe... OMIM:616368
Poikiloderma With Neutropenia
Skin rash, Recurrent bronchopulmonary infections, Splenomegaly, Recurrent pneumonia, Conjunctivit... OMIM:604173
Estrogen Resistance Syndrome
Acne, Elevated tissue non-specific alkaline phosphatase, Enlarged polycystic ovaries, Increased c... ORPHA:785
Erdheim-Chester Disease
Renal insufficiency, Osteomyelitis, Hypogonadotropic hypogonadism, Skin rash, Dysuria, Retroperit... ORPHA:35687
Reactive Arthritis
Pericarditis, Osteomyelitis, Recurrent urinary tract infections, Abnormal pleura morphology, Pust... ORPHA:29207
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia
Bilateral cryptorchidism, Recurrent pneumonia, Recurrent aspiration pneumonia OMIM:300472
Agammaglobulinemia 1, Autosomal Recessive
Recurrent respiratory infections, Recurrent pneumonia, Bronchiectasis, Conjunctivitis, Recurrent ... OMIM:601495
Hartnup Disease
Skin rash, Abnormal urinary color, Infectious encephalitis, Neutral hyperaminoaciduria ORPHA:2116
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Elevated hepatic transaminase, Hepatomegaly, Eczema, Lymphadenitis, Splenomegaly, Cholestasis, In... OMIM:615895
Immunoglobulin A Vasculitis
Episcleritis, Glomerulopathy, Renal insufficiency, Skin rash, Proteinuria, Orchitis, Pustule, Hem... ORPHA:761
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Elevated hepatic transaminase, Hepatomegaly, Renal artery aneurysm, Skin rash, Eczema, Portal hyp... OMIM:615688
Pyruvate Dehydrogenase E1-Alpha Deficiency
Neonatal respiratory distress, Recurrent aspiration pneumonia, Abnormal medullary pyramid morphology ORPHA:79243
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Recurrent respiratory infections, Psoriasiform dermatitis, Recurrent skin infections, Eosinophili... OMIM:615508
Lymphedema-Distichiasis Syndrome
Glomerulopathy, Recurrent urinary tract infections, Recurrent skin infections, Proteinuria, Tubul... ORPHA:33001
Generalized Glucocorticoid Resistance Syndrome
Increased urinary cortisol level, Adrenal hyperplasia, Acne, Precocious puberty, Oligozoospermia,... ORPHA:786
Geleophysic Dysplasia 3
Dyspnea, Respiratory failure, Pneumonia, Hepatomegaly OMIM:617809
X-Linked Dystonia-Parkinsonism
Aspiration pneumonia ORPHA:53351
Infantile Neuroaxonal Dystrophy
Increased circulating lactate dehydrogenase concentration, Apneic episodes in infancy, Aspiration... ORPHA:35069
Pigmented Nodular Adrenocortical Disease, Primary, 4
Adrenal hyperplasia, Acne, Dorsocervical fat pad OMIM:615830
Ring Chromosome 12 Syndrome
Acne, Cryptorchidism, Glandular hypospadias, Uterine leiomyoma, Breast hypoplasia ORPHA:1439
Holocarboxylase Synthetase Deficiency
Skin rash, Tachypnea, Organic aciduria, Elevated urinary 3-methylcrotonylglycine level, 3-hydroxy... OMIM:253270
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Respiratory distress, Gastrointestinal inflammation, Conjunctivitis, Cough, Abnormal penis morpho... ORPHA:95455
Ossification Anomalies-Psychomotor Developmental Delay Syndrome
Elevated hepatic transaminase, Hepatomegaly, Hepatic hemangioma, Penile hypospadias, Recurrent as... ORPHA:73230
Cystic Fibrosis
Elevated hepatic transaminase, Recurrent respiratory infections, Sinusitis, Absent vas deferens, ... ORPHA:586
Prader-Willi Syndrome
Recurrent respiratory infections, Small scrotum, Decreased response to growth hormone stimulation... ORPHA:739
Juvenile Dermatomyositis
Myositis, Pericarditis, Skin rash, Autoimmunity, Pruritus, Dyspnea, Restrictive ventilatory defec... ORPHA:93672
Hyper-Igd Syndrome
Skin rash, Lymphadenitis, Splenomegaly, Hepatosplenomegaly, Arthritis, Chronic oral candidiasis, ... OMIM:260920
Mohr-Tranebjaerg Syndrome
Aspiration pneumonia ORPHA:52368
Distal Duplication 5Q
Cryptorchidism, Aplasia/Hypoplasia of the gallbladder, Hypospadias, Eczema ORPHA:96097
Sarcoidosis, Susceptibility To, 1
Hepatomegaly, Dyspnea, Iridocyclitis, Splenomegaly, Enlarged lacrimal glands, Bronchiectasis, Uve... OMIM:181000
Occipital Horn Syndrome
Recurrent urinary tract infections, Jaundice, Hepatitis, Cholestasis, Bladder diverticulum, Esoph... ORPHA:198
Sweet Syndrome
Predominantly dermal neutrophilic infiltrate, Myositis, Acne, Pustule, Oligoarthritis, Inflammati... ORPHA:3243
Gaucher Disease, Type Ii
Hepatomegaly, Apnea, Splenomegaly, Stridor, Cough, Bronchiolitis, Recurrent aspiration pneumonia OMIM:230900
Liver Disease, Severe Congenital
Chronic gastritis, Biliary hyperplasia, Aminoaciduria, Elevated hepatic iron concentration, Cough... OMIM:619991
Cornelia De Lange Syndrome 1
Hypospadias, Pneumonia, Proteinuria, Ectopic kidney, Cryptorchidism, Abnormal renal morphology, V... OMIM:122470
Wiskott-Aldrich Syndrome
Recurrent respiratory infections, Glomerulopathy, Sinusitis, Recurrent intrapulmonary hemorrhage,... ORPHA:906
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Chronic gastritis, Recurrent respiratory infections, Skin rash, Perianal abscess, Arthritis, Infl... OMIM:301074
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Increased urinary cortisol level, Dorsocervical fat pad, Acne, Pituitary adenoma, Primary hyperpa... ORPHA:189427
Orofaciodigital Syndrome Ix
Recurrent aspiration pneumonia OMIM:258865
Gjc2-Related Late-Onset Primary Lymphedema
Recurrent skin infections ORPHA:568051
Autoerythrocyte Sensitization Syndrome
Superficial dermal perivascular inflammatory infiltrate, Epistaxis, Autoimmune thrombocytopenia, ... ORPHA:324636
Gm1 Gangliosidosis
Recurrent respiratory infections, Splenomegaly, Hepatosplenomegaly, Decreased beta-galactosidase ... ORPHA:354
Blau Syndrome
Nongranulomatous uveitis, Pericarditis, Eczema, Erythema nodosum, Synovitis, Uveitis, Arthritis, ... OMIM:186580
Bickerstaff Brainstem Encephalitis
Respiratory failure requiring assisted ventilation, Pneumonia, Hypercapnia, Respiratory tract inf... ORPHA:79138
Infection-Related Hemolytic Uremic Syndrome
Acute kidney injury, Anuria, Pneumonia, Respiratory tract infection, Dyspnea, Myocarditis, Oligur... ORPHA:544482
Hypohidrotic Ectodermal Dysplasia
Sinusitis, Eczema, Nephrotic syndrome, Keratoconjunctivitis sicca, Breast aplasia, Cough, Inflamm... ORPHA:238468
Hennekam-Beemer Syndrome
Pruritus, Pneumonia, Respiratory insufficiency ORPHA:2135
Proximal Spinal Muscular Atrophy
Hypoventilation, Neonatal respiratory distress, Recurrent infections due to aspiration, Respirato... ORPHA:70
Cholera
Abnormality of renal excretion, Tachypnea, Aspiration pneumonia, Acute kidney injury, Decreased u... ORPHA:173
Shwachman-Diamond Syndrome
Elevated hepatic transaminase, Hepatomegaly, Sinusitis, Skin rash, Pneumonia, Eczema, Osteomyelit... ORPHA:811
Behçet Disease
Increased inflammatory response, Myositis, Pericarditis, Acne, Glomerulopathy, Renal insufficienc... ORPHA:117
Pachyonychia Congenita 2
Folliculitis, Angular cheilitis OMIM:167210
Atrial Septal Defect, Coronary Sinus Type
Pneumonia, Increased pulmonary vascular resistance, Dyspnea, Anomalous pulmonary venous return, P... ORPHA:99104
Kikuchi-Fujimoto Disease
Elevated hepatic transaminase, Hepatomegaly, Skin rash, Pustule, Myocarditis, Pruritus, Splenomeg... ORPHA:50918
Combined Oxidative Phosphorylation Deficiency 25
Aspiration pneumonia OMIM:616430
Kid Syndrome
Recurrent cutaneous abscess formation, Recurrent bacterial skin infections, Psoriasiform dermatit... ORPHA:477
Neuropathy, Hereditary Sensory And Autonomic, Type Viii
Recurrent skin infections OMIM:616488
Sarcoidosis
Abnormal lung morphology, Uveitis, Nephrocalcinosis, Tubulointerstitial nephritis, Cough, Emphyse... ORPHA:797
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Lipodystrophy, Panniculitis, Skin rash OMIM:617099
Neonatal Inflammatory Skin And Bowel Disease
Recurrent bacterial skin infections, Chapped lip, Psoriasiform dermatitis, Pustule, Blepharitis ORPHA:294023
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction
Hypoventilation, Apnea, Urinary incontinence, Hypopnea, Restrictive ventilatory defect, Aspiratio... OMIM:619482
Amoebiasis Due To Free-Living Amoebae
Unusual skin infection, Sinusitis, Pneumonia, Respiratory tract infection, Pustule, Intrarenal ab... ORPHA:68
Adult-Onset Autosomal Dominant Leukodystrophy
Recurrent urinary tract infections, Urinary urgency, Impotence, Urinary retention, Erectile dysfu... ORPHA:99027
Congenital Disorder Of Glycosylation, Type Im
Aspiration, Inflammatory abnormality of the skin OMIM:610768
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Hepatomegaly, Seborrheic dermatitis, Splenomegaly, Micronodular cirrhosis, Aspiration pneumonia, ... OMIM:301072
Biotinidase Deficiency
Respiratory distress, Apnea, Skin rash, Organic aciduria, Conjunctivitis, Eczematoid dermatitis, ... ORPHA:79241
Familial Tumoral Calcinosis
Splenomegaly, Hepatomegaly, Skin rash, Nephrocalcinosis ORPHA:53715
Lissencephaly Due To Lis1 Mutation
Aspiration pneumonia ORPHA:95232
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Fused labia majora, Renal salt wasting, Ambiguous genitalia, female, Abnormal ovarian physiology,... ORPHA:90794
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Elevated hepatic transaminase, Recurrent respiratory infections, Renal insufficiency, Apnea, Hypo... ORPHA:397715
Gm1 Gangliosidosis Type 1
Hepatosplenomegaly, Decreased beta-galactosidase activity, Urinary glycosaminoglycan excretion, A... ORPHA:79255
Meige Disease
Recurrent bacterial skin infections, Pleural effusion, Recurrent skin infections ORPHA:90186
Ectodermal Dysplasia-Skin Fragility Syndrome
Urethral stricture, Chapped lip, Recurrent skin infections, Pruritus, Recurrent pneumonia, Cheili... ORPHA:158668
Mucopolysaccharidosis, Type Vi
Hepatomegaly, Pneumonia, Reduced leukocyte arylsulfatase B activity, Splenomegaly, Recurrent uppe... OMIM:253200
Atrial Septal Defect, Ostium Secundum Type
Orthopnea, Pneumonia, Breathing dysregulation, Increased pulmonary vascular resistance, Dyspnea, ... ORPHA:99103
Neuroleptic Malignant Syndrome
Elevated hepatic transaminase, Proteinuria, Urinary incontinence, Pulmonary embolism, Elevated ci... ORPHA:94093
Primary Triglyceride Deposit Cardiomyovasculopathy
Abnormal circulating enzyme concentration or activity, Inflammatory abnormality of the skin, Hepa... ORPHA:565612
Plague
Respiratory distress, Chapped lip, Hepatomegaly, Skin rash, Erythema nodosum, Lymphadenitis, Sple... ORPHA:707
Blau Syndrome
Clear cell renal cell carcinoma, Pericarditis, Skin rash, Keratitis, Retrobulbar optic neuritis, ... ORPHA:90340
Opitz Gbbb Syndrome
Bifid scrotum, Enlarged ovaries, Hypospadias, Tracheomalacia, Cryptorchidism, Stridor, Abnormalit... ORPHA:2745
Glucagonoma
Neoplasm of the pancreas, Hepatomegaly, Skin rash, Elevated circulating growth hormone concentrat... ORPHA:97280
Cutis Laxa, Autosomal Dominant 1
Dyspnea, Bronchiectasis, Uterine prolapse, Emphysema, Peripheral pulmonary artery stenosis OMIM:123700
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Neonatal respiratory distress, Psoriasiform dermatitis, Recurrent urinary tract infections, Unila... ORPHA:221139
Degcags Syndrome
Bilateral renal hypoplasia, Hepatomegaly, Hypospadias, Cryptorchidism, Abnormal renal cortex morp... OMIM:619488
Tay-Sachs Disease
Precocious puberty, Abnormal circulating enzyme concentration or activity, Aspiration pneumonia, ... ORPHA:845
Immunodeficiency 55
Recurrent skin infections, Eczema OMIM:617827
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Respiratory distress, Hepatomegaly, Superficial dermal perivascular inflammatory infiltrate, Ecze... ORPHA:83617
Alpha-Mannosidosis, Infantile Form
Abnormal circulating enzyme concentration or activity, Recurrent urinary tract infections, Pneumo... ORPHA:309282
Wiskott-Aldrich Syndrome
Autoimmune hemolytic anemia, Eczema, Epistaxis, Recurrent upper respiratory tract infections, Rec... OMIM:301000
Miller-Dieker Lissencephaly Syndrome
Cryptorchidism, Pelvic kidney, Recurrent aspiration pneumonia OMIM:247200
Coffin-Siris Syndrome
Hypospadias, Cryptorchidism, Recurrent upper respiratory tract infections, Horseshoe kidney, Aspi... ORPHA:1465
Mucopolysaccharidosis Type 3
Recurrent sinopulmonary infections, Hepatomegaly, Respiratory tract infection, Splenomegaly, Hepa... ORPHA:581
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Hydroureter, Hypertrophy of the urinary bladder, Hydrocele testis, Unilateral renal dysplasia, Co... ORPHA:280633
Chikungunya
Maculopapular exanthema, Skin rash, Epistaxis, Erythema nodosum, Pruritus, Crusting erythematous ... ORPHA:324625
Marshall-Smith Syndrome
Apnea, Bilateral cryptorchidism, Cryptorchidism, Recurrent upper respiratory tract infections, St... OMIM:602535
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Recurrent respiratory infections, Recurrent urinary tract infections, Hypospadias, Pneumonia, Cry... ORPHA:353281
Thrombocytopenia 1
Epistaxis, Eczema OMIM:313900
Crimean-Congo Hemorrhagic Fever
Conjunctivitis, Cholecystitis, Morbilliform rash, Hepatomegaly, Epididymitis, Hemoperitoneum, Inc... ORPHA:99827
Congenital Fiber-Type Disproportion Myopathy
Recurrent respiratory infections, Hypercapnia, Respiratory insufficiency due to muscle weakness, ... ORPHA:2020
Digeorge Syndrome
Renal dysplasia, Renal insufficiency, Acne, Parathyroid agenesis, Unilateral renal agenesis, Sebo... OMIM:188400
Kindler Epidermolysis Bullosa
Urethral stricture, Recurrent skin infections, Phimosis, Cheilitis, Neoplasm of the urethra, Infl... ORPHA:2908
Tubulointerstitial Nephritis And Uveitis Syndrome
Nongranulomatous uveitis, Anterior uveitis, Skin rash, Intermediate uveitis, Renal neutrophilic t... ORPHA:91500
Niemann-Pick Disease Type C
Hepatomegaly, Low cholesterol esterification rate, Splenomegaly, Abnormal lung morphology, Jaundi... ORPHA:646
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Recurrent respiratory infections, Recurrent urinary tract infections, Hypospadias, Pneumonia, Abn... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Recurrent respiratory infections, Recurrent urinary tract infections, Hypospadias, Pneumonia, Abn... ORPHA:353277
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Hypospadias, Decreased response to growth hormone stimulation test, Asthma, Vesicoureteral reflux... ORPHA:444077
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Hypoventilation, Uterine prolapse, Apnea, Breathing dysregulation, Precocious puberty, Cryptorchi... ORPHA:438213
Wiedemann-Rautenstrauch Syndrome
Reduced subcutaneous adipose tissue, Recurrent respiratory infections, Lipoatrophy, Pneumonia, Hy... OMIM:264090
Arboleda-Tham Syndrome
Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Recurrent ... OMIM:616268
Kabuki Syndrome 1
Ureteropelvic junction obstruction, Crossed fused renal ectopia, Premature thelarche, Autoimmune ... OMIM:147920
Fontaine Progeroid Syndrome
Reduced subcutaneous adipose tissue, Small scrotum, Absent nipple, Cryptorchidism, Pneumothorax, ... OMIM:612289
Semilobar Holoprosencephaly
Central apnea, Decreased response to growth hormone stimulation test, Aspiration pneumonia, Panhy... ORPHA:220386
Alobar Holoprosencephaly
Central apnea, Decreased response to growth hormone stimulation test, Aspiration pneumonia, Panhy... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Central apnea, Decreased response to growth hormone stimulation test, Aspiration pneumonia, Panhy... ORPHA:93926
Lobar Holoprosencephaly
Central apnea, Decreased response to growth hormone stimulation test, Aspiration pneumonia, Panhy... ORPHA:93924
Lafora Disease
Hepatic failure, Recurrent aspiration pneumonia ORPHA:501
Doors Syndrome
Respiratory distress, Increased urine alpha-ketoglutarate concentration, Adrenal hyperplasia, Nep... ORPHA:79500
Pmm2-Cdg
Respiratory distress, Elevated hepatic transaminase, Pericarditis, Hypogonadotropic hypogonadism,... ORPHA:79318
Hereditary Sensory And Autonomic Neuropathy Type 4
Fasciitis, Osteomyelitis, Chronic kidney disease, Aplasia of the sweat glands, Septic arthritis, ... ORPHA:642
Yunis-Varon Syndrome
Absent nipple, Hypospadias, Cryptorchidism, Hypoplastic nipples, Aspiration pneumonia, Pulmonary ... OMIM:216340

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Scara5

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Scara5.

No publications found that use IMPC mice or data for Scara5.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter