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Gene: Ifnar1 MGI:107658

Gene Summary

Name:

interferon (alpha and beta) receptor 1

Synonyms:

Ifar, IFN-alpha/betaR, Ifrc

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
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.

Phenotype	Allele	Zyg	Life Stage	P Value
decreased KLRG1-positive NK cell number	Ifnar1^{tm2a(EUCOMM)Wtsi}	HOM	Early adult	0.00
increased circulating amylase level	Ifnar1^{tm2a(EUCOMM)Wtsi}	HOM	Early adult	4.76×10^-10
increased bone mineral content	Ifnar1^{tm2a(EUCOMM)Wtsi}	HOM	Early adult	6.71×10^-05
decreased circulating fructosamine level	Ifnar1^{tm2a(EUCOMM)Wtsi}	HOM	Early adult	8.09×10^-05
decreased monocyte cell number	Ifnar1^{tm2a(EUCOMM)Wtsi}	HOM	Early adult	0.00
abnormal vibrissa morphology	Ifnar1^{tm2a(EUCOMM)Wtsi}	HOM	Early adult	6.98×10^-05
increased circulating creatinine level	Ifnar1^{tm2a(EUCOMM)Wtsi}	HOM	Early adult	4.32×10^-07
improved glucose tolerance	Ifnar1^{tm2a(EUCOMM)Wtsi}	HOM	Early adult	1.16×10^-06

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lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Skull Dorso Ventral Orientation

14 Images

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X-ray

XRay Images Skull Lateral Orientation

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X-ray

XRay Images Whole Body Dorso Ventral

14 Images

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DSS Histology

Images

7 Images

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X-ray

XRay Images Forepaw

14 Images

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Anti-nuclear antibody assay

Images

6 Images

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X-ray

XRay Images Whole Body Lateral Orientation

14 Images

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Mesenteric Lymph Node Immunophenotyping

Images associated with FACS analysis

4 Images

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Ear epidermis immunophenotyping

Images

39 Images

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Legacy Phenotype Associated Images

Ifnar1^{tm2a(EUCOMM)Wtsi}
HOM, Female, WTSI

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Human diseases caused by Ifnar1 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.

Human diseases associated with Ifnar1 (1 diseases)
Human diseases predicted to be associated with Ifnar1 (628 diseases)

The table below shows human diseases associated to Ifnar1 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Immunodeficiency 106, Susceptibility To Viral Infections		Post-vaccination yellow fever, Post-vaccination measles	OMIM:619935

The table below shows human diseases predicted to be associated to Ifnar1 by phenotypic similarity.

Disease	Matching phenotypes	Source
Human Coronavirus Sensitivity	Susceptibility to coronavirus 229e	OMIM:122460
Coxsackievirus B3 Susceptibility	Recurrent viral infections	OMIM:120050
Ciliary Discoordination Due To Random Ciliary Orientation	Recurrent infections	OMIM:215518
Varicella, Severe Recurrent	Severe recurrent varicella	OMIM:600670
Leishmaniasis, Tegumentary, Susceptibility To	Tegumentary leishmaniasis susceptibility	OMIM:602068
Immunodeficiency 11A	Recurrent respiratory infections, Pneumocystis jirovecii pneumonia, Decreased proportion of CD4+C...	OMIM:615206
Immunodeficiency 106, Susceptibility To Viral Infections	Post-vaccination yellow fever, Post-vaccination measles	OMIM:619935
Immunodeficiency 18	Recurrent respiratory infections, Defective T cell proliferation, Recurrent gastroenteritis, Recu...	OMIM:615615
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein	Recurrent bacterial infections, Abnormality of T cell physiology, Recurrent protozoan infections,...	OMIM:308220
Monocyte Chemotactic Disorder	Cutaneous anergy, Chronic mucocutaneous candidiasis	OMIM:252250
Immunodeficiency 105	Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating IgG level, Panc...	OMIM:619924
Immunodeficiency 30	Recurrent mycobacterial infections, Recurrent infections	OMIM:614891
Lymphoproliferative Syndrome 3	Lymphoproliferative disorder, Hodgkin lymphoma, Hepatosplenomegaly, Decreased circulating antibod...	OMIM:618261
Histiocytosis, Familial Lipochrome	Increased alpha-globulin, Recurrent infections, Increased circulating antibody level, Histiocytosis	OMIM:235900
Immunodeficiency 24	Decreased circulating IgG level, Lymphopenia, Decreased CD4:CD8 ratio, Recurrent viral infections...	OMIM:615897
Neutropenia, Severe Congenital, X-Linked	Monocytopenia, Recurrent bacterial infections, Decreased CD4:CD8 ratio, Neutropenia	OMIM:300299
Adult Idiopathic Neutropenia	Helicobacter pylori infection, Abnormal neutrophil count, Recurrent infections, Increased circula...	ORPHA:2688
Severe Combined Immunodeficiency, X-Linked	Hepatomegaly, Skin rash, Pneumonia, Recurrent bacterial meningitis, Reduced natural killer cell a...	OMIM:300400
Immunodeficiency 20	Recurrent respiratory infections, Recurrent oral herpes, Reduced natural killer cell activity, Se...	OMIM:615707
X-Linked Severe Congenital Neutropenia	Monocytopenia, Recurrent bacterial infections, Neutropenia	ORPHA:86788
Agammaglobulinemia 7, Autosomal Recessive	Agammaglobulinemia, Reduced natural killer cell count, Panhypogammaglobulinemia, Neutropenia	OMIM:615214
Wiskott-Aldrich Syndrome 2	Defective T cell proliferation, Reduced natural killer cell activity, Eczema, Recurrent infections	OMIM:614493
Immunodeficiency 21	Aplastic anemia, Recurrent viral infections, B lymphocytopenia, Recurrent fungal infections, Recu...	OMIM:614172
Retinal Telangiectasia And Hypogammaglobulinemia	Reduced delayed hypersensitivity, Decreased circulating IgG level	OMIM:267900
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Abnormally low T cell receptor excision circle level, Lymphopenia, Pancytopenia, Recurrent respir...	OMIM:618986
Immunodeficiency 15B	Decreased circulating antibody level, Agammaglobulinemia, Monocytosis, Recurrent infections, Decr...	OMIM:615592
Immunodeficiency 32B	Recurrent respiratory infections, Neutrophilia, Eosinophilia, Thrombocytopenia, Splenomegaly, BCG...	OMIM:226990
Lymphoproliferative Syndrome, X-Linked, 1	Decreased circulating IgG level, Hepatomegaly, Recurrent respiratory infections, Dysgammaglobulin...	OMIM:308240
Autoimmune Lymphoproliferative Syndrome, Type Iii	Hepatomegaly, Recurrent urinary tract infections, Elevated circulating aspartate aminotransferase...	OMIM:615559
Immunodeficiency 97 With Autoinflammation	Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Decreased circulating IgG level, ...	OMIM:619802
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4	Agammaglobulinemia, Decreased circulating antibody level, Recurrent infections	OMIM:616911
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Recurrent bacter...	OMIM:202700
Immunodeficiency 8 With Lymphoproliferation	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc...	OMIM:615401
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Hypertriglyceridemia, Increased circulating ferritin concentration, Recurrent upper respiratory t...	OMIM:613101
Candidiasis, Familial, 1	Cutaneous anergy, Chronic mucocutaneous candidiasis, Recurrent viral infections	OMIM:114580
Immunodeficiency 102	Decreased circulating IgG level, Partial absence of specific antibody response to Haemophilus inf...	OMIM:301082
Ras-Associated Autoimmune Leukoproliferative Disorder	Hemolytic anemia, Pancytopenia, Recurrent respiratory infections, Autoimmune thrombocytopenia, Sp...	OMIM:614470
Hemophagocytic Lymphohistiocytosis, Familial, 3	Reduced natural killer cell activity, Hepatosplenomegaly, Hemophagocytosis, Granulocytopenia, Anemia	OMIM:608898
Immunodeficiency 14B, Autosomal Recessive	Candida esophagitis, Neutrophilia, Reduced natural killer cell activity, Leukocytosis, Recurrent ...	OMIM:619281
Neutrophil Actin Dysfunction	Recurrent bacterial infections	OMIM:257150
Immunodeficiency 28	Recurrent mycobacterial infections	OMIM:614889
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes	T lymphocytopenia, Decreased circulating IgG level, Recurrent bacterial infections, Recurrent can...	OMIM:242870
Immunodeficiency 81	Recurrent cutaneous abscess formation, Skin rash, Reduced natural killer cell activity, Recurrent...	OMIM:619374
Reticular Dysgenesis	Congenital agranulocytosis, Impaired T cell function, Sepsis, Lack of T cell function, Leukopenia...	OMIM:267500
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Squamous cell carcinoma, Prostate cancer, Neutropenia, B-cell lymphoma, Myelodysplasia, T-cell ly...	ORPHA:158057
Immunodeficiency 61	Recurrent respiratory infections, Frequent Giardia lamblia infestation, Decreased circulating IgG...	OMIM:300310
Familial Hemophagocytic Lymphohistiocytosis	Increased circulating interleukin 6 concentration, Increased circulating interferon-gamma concent...	ORPHA:540
Immunodeficiency 50	Recurrent respiratory infections, Recurrent urinary tract infections, Eczema, Decreased circulati...	OMIM:300988
Immunodeficiency 15A	Recurrent respiratory infections, Decreased proportion of CD8-positive T cells, Chronic mucocutan...	OMIM:618204
Immunodeficiency With Hyper-Igm, Type 2	Recurrent infection of the gastrointestinal tract, Recurrent respiratory infections, Impaired Ig ...	OMIM:605258
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections	Increased circulating interleukin 6 concentration, Recurrent skin infections, Recurrent upper res...	OMIM:618944
Autoinflammation With Infantile Enterocolitis	Skin rash, Elevated circulating C-reactive protein concentration, Diffuse alveolar hemorrhage, Re...	OMIM:616050
Immunodeficiency, Common Variable, 5	Recurrent respiratory infections, Chronic decreased circulating total IgG, Recurrent bacterial in...	OMIM:613495
Immunodeficiency 85 And Autoimmunity	Decreased circulating IgG level, T lymphocytopenia, Decreased circulating total IgM, Decreased ci...	OMIM:619510
Immunodeficiency 57 With Autoinflammation	Perianal abscess, Decreased circulating antibody level, T lymphocytopenia, B lymphocytopenia, Par...	OMIM:618108
Persistent Polyclonal B-Cell Lymphocytosis	Splenomegaly, Decreased circulating total IgM, Lymphocytosis, Recurrent infections	OMIM:606445
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Decreased proportion of CD4-positive T cells, Recurrent respiratory infections, Persistent CMV vi...	OMIM:300853
Immunodeficiency, Common Variable, 4	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc...	OMIM:613494
Combined Immunodeficiency, X-Linked	Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells...	OMIM:312863
Immunodeficiency 43	Decreased circulating IgG level, Lung abscess, Decreased specific antibody response to polysaccha...	OMIM:241600
Early Myoclonic Encephalopathy	Recurrent respiratory infections, Lethargy, Dysphagia	ORPHA:1935
Autoinflammation With Arthritis And Dyskeratosis	Hepatomegaly, Elevated circulating C-reactive protein concentration, Increased circulating IgA le...	OMIM:617388
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Decreased circulating IgG level, Lymphopenia, Decreased proportion of naive T cells, Lymphoprolif...	ORPHA:276
Immunodeficiency With Hyper-Igm, Type 5	Impaired Ig class switch recombination, Epididymitis, Recurrent bacterial infections, Increased c...	OMIM:608106
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc...	ORPHA:70593
Agammaglobulinemia 8A, Autosomal Dominant	Recurrent otitis media, Agammaglobulinemia, Post-vaccination polio, Recurrent infections	OMIM:616941
Immunodeficiency 35	Recurrent respiratory infections, Recurrent viral infections, Recurrent mycobacterial infections,...	OMIM:611521
Neutropenia-Monocytopenia-Deafness Syndrome	Abnormal macrophage morphology, Abnormality of neutrophils	ORPHA:2690
Ectodermal Dysplasia And Immunodeficiency 1	Dysgammaglobulinemia, Increased circulating IgA level, Reduced natural killer cell activity, Seve...	OMIM:300291
Immunodeficiency 48	Hepatomegaly, Recurrent respiratory infections, Pneumonia, Recurrent candida infections, Eczemato...	OMIM:269840
Agammaglobulinemia 2, Autosomal Recessive	Recurrent respiratory infections, Recurrent pneumonia, Agammaglobulinemia, Recurrent bacterial in...	OMIM:613500
Lymphoproliferative Syndrome, X-Linked, 2	Hepatomegaly, Recurrent respiratory infections, Hypertriglyceridemia, Acne, Recurrent skin infect...	OMIM:300635
Immunodeficiency, Common Variable, 7	Recurrent respiratory infections, Recurrent urinary tract infections, Chronic (near) absent circu...	OMIM:614699
Immune Deficiency, Familial Variable	Decreased circulating IgG level, Recurrent infections, Decreased circulating IgA level	OMIM:146830
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Recurrent herpes, Pneumonia, Anorexia, Recurrent pneumonia, Hepatitis, Recurrent candida infectio...	ORPHA:169160
Immunodeficiency, Common Variable, 3	Recurrent respiratory infections, Recurrent bacterial infections, Decreased circulating total IgM...	OMIM:613493
Spastic Ataxia-Corneal Dystrophy Syndrome	Spastic ataxia, Ataxia, Corneal dystrophy, Developmental cataract, Decreased circulating antibody...	ORPHA:2572
Immunoglobulin Kappa Light Chain Deficiency	Recurrent respiratory infections, Abnormal immunoglobulin level, Recurrent infections	OMIM:614102
Immunodeficiency 103, Susceptibility To Fungal Infections	Abnormal B cell count, Increased circulating IgE level, Hypereosinophilia, Abnormal proportion of...	OMIM:212050
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 8	Lethargy, Herpes simplex encephalitis, Meningitis	OMIM:617900
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections	Eosinophilia, Increased circulating IgE level, Squamous cell carcinoma, Increased circulating IgG...	OMIM:243700
Agammaglobulinemia 4, Autosomal Recessive	Recurrent pneumonia, Agammaglobulinemia, Recurrent bacterial infections, Decreased circulating to...	OMIM:613502
Cd8 Deficiency, Familial	Absence of CD8-positive T cells, Recurrent respiratory infections, Recurrent bacterial infections...	OMIM:608957
Immunodeficiency With Hyper-Igm, Type 3	Impaired Ig class switch recombination, Impaired memory B cell generation, Recurrent bacterial in...	OMIM:606843
Immunodeficiency 44	Elevated circulating alanine aminotransferase concentration, Severe viral infection, Decreased ci...	OMIM:616636
Eosinophilia, Familial	Eosinophilia, Recurrent bronchitis, Thrombocytopenia, Leukocytosis, Anemia	OMIM:131400
Immunodeficiency 95	Recurrent respiratory infections, Decreased circulating IgG3 level, Increased circulating IgG3 le...	OMIM:619773
Griscelli Syndrome, Type 2	Reduced delayed hypersensitivity, Recurrent bacterial infections, Hemophagocytosis, Hepatosplenom...	OMIM:607624
Agammaglobulinemia 6, Autosomal Recessive	Recurrent pneumonia, Agammaglobulinemia, Recurrent bacterial infections, Decreased circulating to...	OMIM:612692
Immunodeficiency 62	Recurrent herpes, Severe recurrent varicella, Recurrent upper respiratory tract infections, Bronc...	OMIM:618459
Combined Cellular And Humoral Immune Defects With Granulomas	T lymphocytopenia, Decreased circulating IgG level, B lymphocytopenia, Recurrent respiratory infe...	OMIM:233650
Classic Galactosemia	Elevated hepatic transaminase, Hepatomegaly, Abnormal circulating enzyme concentration or activit...	ORPHA:79239
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections	Lymphopenia, Increased circulating IgE level, Decreased circulating IgA level, Decreased circulat...	OMIM:619752
Whim Syndrome 1	Recurrent upper respiratory tract infections, Bronchiectasis, Decreased circulating antibody leve...	OMIM:193670
Caspase 8 Deficiency	Recurrent sinopulmonary infections, Recurrent herpes, Complete or near-complete absence of specif...	OMIM:607271
Immunodeficiency 83, Susceptibility To Viral Infections	Lethargy, Herpes simplex encephalitis, Meningitis	OMIM:613002
Agammaglobulinemia 3, Autosomal Recessive	Abnormal T cell morphology, Agammaglobulinemia, Recurrent bacterial infections, Absent isohemaggl...	OMIM:613501
Ataxia-Pancytopenia Syndrome	Recurrent respiratory infections, Pancytopenia, Abnormal macrophage morphology, Abnormality of ne...	ORPHA:2585
Immunodeficiency, Common Variable, 2	Hepatomegaly, Impaired T cell function, Recurrent pneumonia, Bronchiectasis, Recurrent bacterial ...	OMIM:240500
Immunodeficiency 86	Impaired oxidative burst, Decreased circulating IgG level, Increased circulating IgM level, BCGitis	OMIM:619549
Immunoglobulin A Deficiency 1	Recurrent respiratory infections, Recurrent infection of the gastrointestinal tract, Decreased ci...	OMIM:137100
Glycine Encephalopathy 1	Restlessness, Hyperactivity, Impulsivity, Aggressive behavior, Hyperglycinemia, Lethargy	OMIM:605899
Immunodeficiency 37	Decreased circulating antibody level, Colitis, Infectious encephalitis, Recurrent infections	OMIM:616098
Hemophagocytic Lymphohistiocytosis, Familial, 2	Elevated hepatic transaminase, Hepatomegaly, Hyponatremia, Hypoproteinemia, Skin rash, Hypertrigl...	OMIM:603553
Wiskott-Aldrich Syndrome	Recurrent herpes, Sepsis, Large vessel vasculitis, Abnormal delayed hypersensitivity skin test, I...	OMIM:301000
Pa Polymorphism Of Alpha-2-Globulin	Abnormal immunoglobulin level	OMIM:260100
Immunodeficiency By Defective Expression Of Mhc Class Ii	Recurrent herpes, Sinusitis, Recurrent viral infections, Acute otitis media, Recurrent candida in...	ORPHA:572
Agammaglobulinemia 10, Autosomal Dominant	Recurrent respiratory infections, Agammaglobulinemia, Decreased circulating total IgM, Recurrent ...	OMIM:619707
Ebola Hemorrhagic Fever	Abnormal bleeding, Gastrointestinal hemorrhage, Acute pancreatitis, Maculopapular exanthema, Seps...	ORPHA:319218
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Recurrent respiratory infections, Recurrent sinopulmonary infections, Recurrent ear infections, B...	OMIM:615513
Immunodeficiency 109 With Lymphoproliferation	Hypertriglyceridemia, Decreased lymphocyte proliferation in response to anti-CD3, Bronchiectasis,...	OMIM:620282
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive	Pneumonia, Purulent rhinitis, Recurrent opportunistic infections, Arthritis, Panhypogammaglobulin...	OMIM:601457
Neutropenia, Severe Congenital, 2, Autosomal Dominant	Monocytosis, B lymphocytopenia, Neutropenia	OMIM:613107
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature	Recurrent upper respiratory tract infections, Bronchiectasis, Decreased circulating total IgM, Re...	OMIM:615139
Congenital Disorder Of Glycosylation, Type Iir	Elevated hepatic transaminase, Hepatomegaly, Jaundice, Micronodular cirrhosis, Recurrent infectio...	OMIM:301045
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Decrease...	OMIM:600802
Combined Oxidative Phosphorylation Deficiency 52	Elevated circulating aspartate aminotransferase concentration, Elevated circulating creatine kina...	OMIM:619386
Kid Syndrome	Recurrent cutaneous abscess formation, Recurrent bacterial skin infections, Psoriasiform dermatit...	ORPHA:477
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Recurrent viral infections, Recurrent candida infections, Increased circulating IgG level, T lymp...	ORPHA:169154
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Impaired lymphocyte transformation with phytohemagglutinin, Decreased lymphocyte proliferation in...	OMIM:619313
Methylmalonic Acidemia With Homocystinuria, Type Cbld	Lethargy, Gait disturbance, Anorexia	ORPHA:79283
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia	Recurrent skin infections, Decreased circulating IgA level, Decreased circulating antibody level,...	OMIM:617744
Immunodeficiency 52	Persistent CMV viremia, Recurrent pneumonia, Bronchiectasis, Persistent EBV viremia, Recurrent in...	OMIM:617514
Immunodeficiency, Common Variable, 1	Hepatomegaly, Pneumonia, Impaired T cell function, Recurrent pneumonia, Bronchiectasis, Recurrent...	OMIM:607594
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation	Herpes simplex encephalitis, Increased circulating IgE level, Bronchiectasis, Recurrent infection...	OMIM:618982
Gamma-A-Globulin, Defect In Assembly Of	Recurrent respiratory infections, Decreased circulating IgA level	OMIM:137050
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Eczema, Abnormal immunoglobulin level, Invasive fungal infection, Recurrent mycobacterial infecti...	ORPHA:98813
Immunodeficiency 46	Recurrent sinopulmonary infections, Sepsis, Decreased circulating antibody level, Conjunctivitis,...	OMIM:616740
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Hepatomegaly, Sepsis, Hyperammonemia, Choreoathetosis, Lethargy, Pancreatitis	ORPHA:289916
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly, Cutaneous anergy	OMIM:183350
Mucoepithelial Dysplasia, Hereditary	Cataract, Pneumonia, Recurrent pneumonia, Chronic mucocutaneous candidiasis, Keratoconjunctivitis...	OMIM:158310
B-Cell Expansion With Nfkb And T-Cell Anergy	Decreased circulating total IgM, Decreased specific antibody response to polysaccharide vaccine, ...	OMIM:616452
Bare Lymphocyte Syndrome, Type Ii	Viral hepatitis, Chronic lymphocytic meningitis, Recurrent urinary tract infections, Cholangitis,...	OMIM:209920
Autosomal Dominant Keratitis	Cataract, Keratitis, Abnormal corneal limbus morphology, Microcornea, Limbal stem cell deficiency...	ORPHA:2334
Immunodeficiency 56	Recurrent respiratory infections, Pneumocystis jirovecii pneumonia, Cholangitis, Recurrent pneumo...	OMIM:615207
Activated Pi3K-Delta Syndrome	Hepatomegaly, Pneumonia, Severe varicella zoster infection, Recurrent tonsillitis, Bronchiectasis...	ORPHA:397596
Intellectual Developmental Disorder, Autosomal Dominant 67	Recurrent respiratory infections, Hyperactivity, Bipolar affective disorder, Astigmatism, Compuls...	OMIM:619927
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2	Pneumocystis jirovecii pneumonia, Pneumonia, Recurrent upper respiratory tract infections, Recurr...	OMIM:614069
Immunoglobulin A Deficiency 2	Recurrent sinopulmonary infections, Recurrent infection of the gastrointestinal tract, Decreased ...	OMIM:609529
Typhoid	Gastrointestinal hemorrhage, Hepatomegaly, Skin rash, Epistaxis, Cardiac arrest, Ataxia, Lethargy...	ORPHA:99745
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis	Lymphopenia, Autoimmune hemolytic anemia, Plasmacytosis, Increased circulating antibody level	OMIM:247800
Combined Oxidative Phosphorylation Deficiency 34	Pancytopenia, Elevated circulating creatinine concentration, Hypoglycemia, Increased blood urea n...	OMIM:617872
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Hepatomegaly, Ataxia, Impaired T cell function, Low alkaline phosphatase, Recurrent candida infec...	OMIM:201100
Limbal Stem Cell Deficiency	Opacification of the corneal epithelium, Generalized opacification of the cornea, Keratitis, Corn...	ORPHA:171673
Immunodeficiency 54	Splenomegaly, Reduced natural killer cell count, Lymphoproliferative disorder	OMIM:609981
Developmental And Epileptic Encephalopathy 92	Inability to walk, Lethargy, Ataxia, Difficulty walking	OMIM:617829
Immunodeficiency, Common Variable, 12, With Autoimmunity	Recurrent sinopulmonary infections, Atrophic gastritis, Recurrent skin infections, Recurrent pneu...	OMIM:616576
Coronary Artery Disease, Autosomal Dominant 2	Hypertriglyceridemia, Impaired glucose tolerance, Osteoporosis, Increased LDL cholesterol concent...	OMIM:610947
Pgm3-Cdg	Hemolytic anemia, Abnormal proportion of CD8-positive T cells, Eosinophilia, Abnormal CD4:CD8 rat...	ORPHA:443811
Methylmalonic Acidemia With Homocystinuria	Lethargy, Skin rash, Gait disturbance	ORPHA:26
Immunodeficiency, Common Variable, 11	Recurrent respiratory infections, Increased circulating IgE level, Inflammation of the large inte...	OMIM:615767
Crigler-Najjar Syndrome	Lethargy, Jaundice, Abnormality of the liver, Infectious encephalitis	ORPHA:205
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To	Acute myeloid leukemia, Refractory anemia, Leukopenia, Monocytosis, Bone marrow hypocellularity	OMIM:616871
Vernal Keratoconjunctivitis	Abnormal cornea morphology, Punctate keratitis, Abnormal conjunctiva morphology, Corneal neovascu...	ORPHA:70476
Severe Combined Immunodeficiency Due To Dclre1C Deficiency	Skin rash, Recurrent viral infections, Recurrent mycobacterial infections, Recurrent opportunisti...	ORPHA:275
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Inflammatory abnormality of the skin, Sinusitis, Recurrent opportunistic infections, Recurrent pn...	ORPHA:277
Meningococcal Meningitis	Shock, Skin rash, Elevated circulating C-reactive protein concentration, Anorexia, Sepsis, Hypote...	ORPHA:33475
Dihydrolipoamide Dehydrogenase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Increased serum pyruvate, Ataxia, Decreased liver fu...	OMIM:246900
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Recurrent oral herpes, Persistent CMV viremia, Bronchiectasis, Increased circulating IgG level, I...	OMIM:619220
Immunodeficiency With Hyper-Igm, Type 1	Sepsis, Decreased circulating IgE, Decreased circulating IgG level, Meningitis, Hepatomegaly, Hep...	OMIM:308230
Lymphoproliferative Syndrome 2	Pancytopenia, Lymphoproliferative disorder, Aplastic anemia, Severe varicella zoster infection, S...	OMIM:615122
Hermansky-Pudlak Syndrome 2	Hepatomegaly, Prolonged bleeding time, Reduced natural killer cell activity, Recurrent pneumonia,...	OMIM:608233
Dihydropyrimidine Dehydrogenase Deficiency	Lethargy, Hyperactivity, Reduced dihydropyrimidine dehydrogenase level	OMIM:274270
Immunodeficiency 33	Pneumocystis jirovecii pneumonia, Increased circulating IgA level, Recurrent bacterial infections...	OMIM:300636
Immunodeficiency, Common Variable, 6	Hepatomegaly, Recurrent respiratory infections, Glomerulonephritis, Recurrent bacterial infection...	OMIM:613496
Sickle Cell Anemia	Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the spleen, Leukocytosis, El...	ORPHA:232
Hemochromatosis, Type 2A	Hepatomegaly, Congestive heart failure, Increased circulating ferritin concentration, Dilated car...	OMIM:602390
Glut1 Deficiency Syndrome 1	Choreoathetosis, Lethargy, Paroxysmal lethargy, Ataxia	OMIM:606777
Transcobalamin Deficiency	Lymphopenia, Pancytopenia, Decreased circulating antibody level, Decreased circulating total IgM,...	ORPHA:859
Immunodeficiency 96	Conjunctival telangiectasia, Eczema, Recurrent infections, Decreased circulating total IgM, Defec...	OMIM:619774
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Elevated hepatic transaminase, Hepatomegaly, Recurrent respiratory infections, Nodular regenerati...	ORPHA:404454
Neuronal Intestinal Pseudoobstruction	Decreased circulating antibody level, Recurrent infections	ORPHA:99811
Selective Igm Deficiency	Recurrent herpes, Fasciitis, Recurrent staphylococcal infections, Severe varicella zoster infecti...	ORPHA:331235
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Decreased circulating IgG level, Abnormal B cell count, Abnormal T cell count, Autoimmune hemolyt...	ORPHA:331206
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating IgG level, Abse...	ORPHA:35078
Microcephaly With Chemotactic Defect And Transient Hypogammaglobulinemia	Transient hypogammaglobulinemia of infancy, Recurrent infections	OMIM:251240
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	T lymphocytopenia, Reduced natural killer cell count, Increased circulating IgM level, Decreased ...	OMIM:242860
Neutrophil Immunodeficiency Syndrome	Leukocytosis, Abnormality of neutrophil physiology	ORPHA:183707
Combined Immunodeficiency Due To Dock8 Deficiency	Recurrent respiratory infections, Recurrent bacterial skin infections, Pneumonia, Recurrent viral...	ORPHA:217390
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6	Bradykinesia, Lethargy, Hypertrophic cardiomyopathy, Ataxia	OMIM:618683
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Elevated circulating creatinine concentration, Hyperuricemia, Anemia, Neutropenia	OMIM:617056
Osteopetrosis, Autosomal Recessive 9	Increased bone mineral density, Cortical sclerosis, Elevated circulating creatinine concentration...	OMIM:620366
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia	Recurrent respiratory infections, Decreased circulating IgG level, Decreased circulating total IgM	OMIM:618987
Autosomal Dominant Severe Congenital Neutropenia	Acute myeloid leukemia, Recurrent sinopulmonary infections, Aplastic anemia, Eosinophilia, Recurr...	ORPHA:486
Preeclampsia	Type I diabetes mellitus, Elevated circulating creatinine concentration, Thrombocytopenia	ORPHA:275555
Mitochondrial Complex I Deficiency, Nuclear Type 3	Hepatomegaly, Ataxia, Lethargy	OMIM:618224
Pyruvate Dehydrogenase E3 Deficiency	Elevated hepatic transaminase, Hepatomegaly, Abnormal cardiac ventricular function, Elevated circ...	ORPHA:2394
Renal Failure, Progressive, With Hypertension	Elevated circulating creatinine concentration	OMIM:161900
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency	Tegumentary leishmaniasis susceptibility, Recurrent mycobacterial infections, BCGosis, Coccidioid...	ORPHA:319552
Autosomal Agammaglobulinemia	Recurrent respiratory infections, Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections,...	ORPHA:33110
Encephalitis Lethargica	Lethargy, Increased circulating antibody level, Bradycardia, Recurrent viral infections	ORPHA:83600
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Hepatomegaly, Atrophic gastritis, Psoriasiform dermatitis, Eczema, Recurrent upper respiratory tr...	OMIM:616100
Agammaglobulinemia 8B, Autosomal Recessive	Recurrent pneumonia, Recurrent infections, Agammaglobulinemia, Decreased circulating total IgM, D...	OMIM:619824
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections	Recurrent respiratory infections, Osteomyelitis, Recurrent skin infections, Eczema, Recurrent pne...	OMIM:618282
Immunodeficiency 64 With Lymphoproliferation	Increased circulating IgA level, Bronchiectasis, Recurrent infections, Hepatosplenomegaly, Increa...	OMIM:618534
Immunodeficiency 89 And Autoimmunity	Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 23 concentrati...	OMIM:619632
Homocystinuria Without Methylmalonic Aciduria	Lethargy, Ataxia	ORPHA:622
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Hepatomegaly, Atrophic gastritis, Psoriasiform dermatitis, Eczema, Pneumonia, Recurrent upper res...	ORPHA:436159
Hyperinsulinism Due To Ucp2 Deficiency	Hepatomegaly, Tachycardia, Decreased circulating free fatty acid level, Syncope, Agitation, Palpi...	ORPHA:276556
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)	Lethargy, Difficulty walking	OMIM:613710
Gelatinous Drop-Like Corneal Dystrophy	Subepithelial corneal opacities, Conjunctival amyloidosis, Corneal neovascularization, Central op...	ORPHA:98957
Acute Lung Injury	Shock, Acute pancreatitis, Increased circulating interleukin 6 concentration, Pneumonia, Elevated...	ORPHA:178320
Macrophage Activation Syndrome	Increased circulating interleukin 6 concentration, Thrombocytopenia, Splenomegaly, Abnormal natur...	ORPHA:158061
Immunodeficiency 11B With Atopic Dermatitis	Pneumonia, Increased circulating IgE level, Atopic dermatitis, Bronchiectasis, Ulcerative colitis...	OMIM:617638
Cernunnos-Xlf Deficiency	Recurrent bacterial infections, Decreased circulating antibody level, Recurrent viral infections	ORPHA:169079
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Hepatomegaly, Increased circulating antibody level, Recurrent infections	OMIM:615285
Sweet Syndrome	Acute myeloid leukemia, Increased circulating interleukin 6 concentration, Neutrophilia, Hematolo...	ORPHA:3243
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3	Agammaglobulinemia, Decreased circulating antibody level, Recurrent infections	OMIM:616910
Immunodeficiency, Common Variable, 13	Pancytopenia, Decreased circulating antibody level, Acute lymphoblastic leukemia, Recurrent bacte...	OMIM:616873
Xeroderma Pigmentosum, Complementation Group D	Cataract, Ataxia, Keratitis, Telangiectasia, Choreoathetosis, Keratoconjunctivitis sicca, Conjunc...	OMIM:278730
Staphylococcal Necrotizing Pneumonia	Shock, Pneumonia, Elevated circulating C-reactive protein concentration, Severe infection, Sepsis...	ORPHA:36238
Immunodeficiency 70	Decreased circulating total IgG, Decreased circulating antibody level, Decreased circulating tota...	OMIM:618969
Severe Canavan Disease	Inability to walk, Lethargy, Oral-pharyngeal dysphagia	ORPHA:314911
Maternal Uniparental Disomy Of Chromosome 1	Hepatomegaly, Cataract, Ataxia, Recurrent infections, Panhypogammaglobulinemia	ORPHA:251009
Immunodeficiency 69	Pancytopenia, Splenomegaly, Leukocytosis, BCGosis, Hepatosplenomegaly, Thrombocytosis, Anemia	OMIM:618963
Lysinuric Protein Intolerance	Decreased HDL cholesterol concentration, Tubulointerstitial nephritis, Lethargy, Abnormal bleedin...	ORPHA:470
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant	Increased circulating IgE level, Eczema, Thyroiditis, Recurrent infections	OMIM:618985
Reticular Dysgenesis	Recurrent respiratory infections, Skin rash, Sepsis, Decreased circulating antibody level, Chroni...	ORPHA:33355
Adult Acute Respiratory Distress Syndrome	Abnormal circulating interleukin concentration, Increased circulating interleukin 6 concentration...	ORPHA:70578
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	Increased circulating lactate dehydrogenase concentration, Eczema, Recurrent pneumonia, Recurrent...	OMIM:617780
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Hepatomegaly, Tachycardia, Decreased circulating free fatty acid level, Syncope, Agitation, Palpi...	ORPHA:276575
Immunodeficiency 25	Recurrent herpes, Increased circulating IgA level, Recurrent pneumonia, Increased circulating IgE...	OMIM:610163
Immunodeficiency 66	Defective T cell proliferation, Meningitis, Sepsis	OMIM:618847
Ataxia-Telangiectasia	Elevated hepatic transaminase, Recurrent respiratory infections, Telangiectasia of the skin, Atax...	ORPHA:100
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency	Chronic gastritis, Recurrent herpes, Liver abscess, Cholangitis, Sepsis, Pulmonary tuberculosis, ...	ORPHA:183675
Postinfectious Vasculitis	Elevated circulating C-reactive protein concentration, Anorexia, Severe varicella zoster infectio...	ORPHA:48435
Fanconi Renotubular Syndrome 3	Aminoaciduria, Elevated circulating creatinine concentration, Rickets, Glycosuria	OMIM:615605
Hjv Or Hamp-Related Hemochromatosis	Elevated hepatic transaminase, Congenital hepatic fibrosis, Elevated transferrin saturation, Dila...	ORPHA:79230
Methylmalonic Acidemia With Homocystinuria Type Cblf	Hypomethioninemia, Skin rash, Intraventricular hemorrhage, Recurrent infections, Hyperhomocystine...	ORPHA:79284
Marburg Hemorrhagic Fever	Elevated circulating creatine kinase concentration, Anorexia, Uveitis, Hypoalbuminemia, Lethargy,...	ORPHA:99826
Short Chain Acyl-Coa Dehydrogenase Deficiency	Elevated circulating acylcarnitine concentration, Cardiomyopathy, Hepatic steatosis, Lethargy	ORPHA:26792
Autoinflammation, Antibody Deficiency, And Immune Dysregulation	Recurrent sinopulmonary infections, Cataract, Corneal erosion, Enterocolitis, Ulcerative colitis,...	OMIM:614878
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome	Hepatomegaly, Hyperammonemia, Dysmetria, Hyperornithinemia, Dysdiadochokinesis, Decreased liver f...	OMIM:238970
Palmoplantar Carcinoma, Multiple Self-Healing	Limbal stem cell deficiency, Corneal neovascularization, Chronic rhinitis	OMIM:615225
Immunodeficiency, Common Variable, 10	Decreased circulating IgG level, Recurrent oral herpes, Frequent Giardia lamblia infestation, Pso...	OMIM:615577
Immunodeficiency 98 With Autoinflammation, X-Linked	Chronic oral candidiasis, Autoimmune hemolytic anemia, Pneumocystis jirovecii pneumonia, Splenome...	OMIM:301078
Developmental And Epileptic Encephalopathy 40	Choreoathetosis, Lethargy	OMIM:617065
Microcephalic Primordial Dwarfism, Toriello Type	Recurrent respiratory infections, Decreased circulating IgG level, Decreased circulating total Ig...	ORPHA:2643
C3 Glomerulopathy	Membranoproliferative glomerulonephritis, Paraproteinemia, Elevated circulating creatinine concen...	ORPHA:329918
Proteasome-Associated Autoinflammatory Syndrome 2	Neutrophilic infiltration of the skin, Skin rash, Elevated circulating C-reactive protein concent...	OMIM:618048
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ...	OMIM:600649
Cyclic Vomiting Syndrome	Ataxia, Anorexia, Cardiomyopathy, Attention deficit hyperactivity disorder, Lethargy	OMIM:500007
Scrub Typhus	Abnormal bleeding, Anterior uveitis, Skin rash, Myocarditis, Hypotension, Lethargy, Meningitis, I...	ORPHA:83317
Immunodeficiency 91 And Hyperinflammation	Neutrophilia, Elevated circulating C-reactive protein concentration, BCGosis, Recurrent pneumonia...	OMIM:619644
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5	Elevated circulating creatine kinase concentration, Dilated cardiomyopathy, Hyperammonemia, Gait ...	OMIM:618120
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Hepatomegaly, Tachycardia, Syncope, Agitation, Palpitations, Lethargy, Hypertrophic cardiomyopath...	ORPHA:276580
Hyperinsulinism Due To Hnf1A Deficiency	Hepatomegaly, Tachycardia, Decreased circulating free fatty acid level, Syncope, Agitation, Palpi...	ORPHA:324575
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Ataxia, Elevated circulating creatine kinase concent...	ORPHA:42
Lethal Infantile Mitochondrial Myopathy	Cardiomyopathy, Fatal liver failure in infancy, Lethargy	ORPHA:254857
Epidermodysplasia Verruciformis, Susceptibility To, 5	T lymphocytopenia, Lymphopenia, Squamous cell carcinoma of the skin, Verrucae	OMIM:618309
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia	Recurrent urinary tract infections, Enteroviral dermatomyositis syndrome, Recurrent enteroviral i...	OMIM:307200
Citrullinemia Type Ii	Elevated hepatic transaminase, Hepatomegaly, Decreased HDL cholesterol concentration, Acute hyper...	ORPHA:247585
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2	Elevated hepatic transaminase, Hepatomegaly, Dysphagia, Lethargy, Hypertrophic cardiomyopathy	OMIM:613561
Bone Marrow Failure Syndrome 4	Bone marrow hypocellularity, Recurrent respiratory infections, Eczema, Decreased circulating anti...	OMIM:618116
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Hepatomegaly, Anorexia, Hyperammonemia, Choreoathetosis, Cardiomyopathy, Lethargy, Pancreatitis	ORPHA:79312
Purine Nucleoside Phosphorylase Deficiency	Cerebral vasculitis, Recurrent urinary tract infections, Sinusitis, Hypouricemia, Pneumonia, Incr...	OMIM:613179
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type	Recurrent otitis media, Hyperactivity, Inflexible adherence to routines	OMIM:301076
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Absent specific antibody response, Decreased proportion of CD4+CD25+ regulatory T cells, Autoimmu...	OMIM:619846
Congenital Disorder Of Glycosylation, Type Ig	Recurrent upper respiratory tract infections, Recurrent pneumonia, Decreased circulating total Ig...	OMIM:607143
Immunodeficiency, Common Variable, 14	Psoriasiform dermatitis, Decreased circulating total IgM, Recurrent sinusitis, Decreased specific...	OMIM:617765
Dyskeratosis Congenita, Autosomal Recessive 8	Pancytopenia, Reduced natural killer cell count, B lymphocytopenia, Bone marrow hypocellularity	OMIM:620133
Agammaglobulinemia, X-Linked	Sepsis, Conjunctivitis, Decreased circulating IgE, Decreased circulating IgG level, Meningitis, I...	OMIM:300755
Carnitine Deficiency, Systemic Primary	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:212140
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Thrombocytosis, Anemia of inadequate pro...	ORPHA:75564
Trichinellosis	Skin rash, Increased circulating IgE level, Retinal hemorrhage, Anisocoria, Conjunctivitis, Apath...	ORPHA:863
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency	Hepatomegaly, Acute hyperammonemia, Ataxia, Hyperglutaminemia, Hyperammonemia, Cerebral ischemia,...	ORPHA:927
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia	Splenomegaly, Recurrent respiratory infections, Leukocytosis, Decreased circulating antibody level	OMIM:618042
T-Cell Immunodeficiency With Thymic Aplasia	Aplasia of the thymus, Recurrent viral infections, Recurrent bronchopulmonary infections, Recurre...	OMIM:242700
Biotinidase Deficiency	Skin rash, Ataxia, Recurrent viral infections, Recurrent candida infections, Hyperammonemia, Recu...	ORPHA:79241
Hypothyroidism, Congenital, Nongoitrous, 7	Lethargy	OMIM:618573
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type	Methylmalonic acidemia, Decreased methionine synthase activity, Hypomethioninemia, Hyperhomocysti...	OMIM:236270
Immunodeficiency 58	Colitis, Chronic otitis media, Recurrent cutaneous abscess formation, Bronchiectasis, Decreased c...	OMIM:618131
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	Decreased lymphocyte proliferation in response to anti-CD3, Abnormal T cell subset distribution, ...	ORPHA:221139
Classic Glucose Transporter Type 1 Deficiency Syndrome	Choreoathetosis, Lethargy, Ataxia	ORPHA:71277
Dihydropyrimidinase Deficiency	Elevated circulating dihydrouracil concentration, Elevated circulating uracil concentration, Leth...	OMIM:222748
Carnitine Palmitoyltransferase I Deficiency	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating aspartate aminotransferase conc...	OMIM:255120
Anterior Segment Dysgenesis 6	Corneal opacity, Abnormal Descemet membrane morphology, Developmental glaucoma, Posterior synechi...	OMIM:617315
Agammaglobulinemia 1, Autosomal Recessive	Recurrent respiratory infections, Recurrent pneumonia, Bronchiectasis, Decreased circulating anti...	OMIM:601495
Multifocal Atrial Tachycardia	Atrial flutter, Tachycardia, Atrial fibrillation, Paroxysmal atrial tachycardia, Effort-induced p...	ORPHA:3282
Lymphoproliferative Syndrome 1	Hepatomegaly, Elevated circulating C-reactive protein concentration, Increased circulating ferrit...	OMIM:613011
Vulvovaginal Gingival Syndrome	Abnormality of tumor necrosis factor secretion	ORPHA:83453
Myeloproliferative Syndrome, Transient	Leukocytosis, Transient myeloproliferative syndrome	OMIM:159595
Prolidase Deficiency	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Eczema, Recurrent pn...	OMIM:170100
22Q11.2 Deletion Syndrome	Gastrointestinal hemorrhage, Bipolar affective disorder, Acne, Impaired T cell function, Cataract...	ORPHA:567
Dengue Fever	Gastrointestinal hemorrhage, Hepatomegaly, Skin rash, Epistaxis, Cerebral hemorrhage, Gingival bl...	ORPHA:99828
Relapsing Fever	Neutrophilia, Elevated circulating C-reactive protein concentration, Thrombocytopenia, Leukocytos...	ORPHA:91547
N-Acetylglutamate Synthase Deficiency	Lethargy, Hyperglutamatemia, Hyperammonemia, Aggressive behavior	OMIM:237310
Panniculitis-Induced Localized Lipodystrophy	Inflammatory abnormality of the skin, Vasculitis in the skin, Abnormal immunoglobulin level	ORPHA:90159
Tularemia	Brain abscess, Tachycardia, Skin rash, Pneumonia, Erythema nodosum, Inflammatory abnormality of t...	ORPHA:3392
Immunodeficiency 12	Skin rash, Decreased lymphocyte proliferation in response to anti-CD3, Recurrent viral infections...	OMIM:615468
Neutropenia, Chronic Familial	Periodontitis, Increased circulating antibody level	OMIM:162700
Immunodeficiency 60 And Autoimmunity	Recurrent sinopulmonary infections, Bronchiectasis, Ulcerative colitis, Decreased circulating tot...	OMIM:618394
Immunodeficiency 19	T lymphocytopenia, Abnormal B cell morphology, Abnormal natural killer cell morphology	OMIM:615617
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Methylmalonic acidemia, Hepatomegaly, Decreased methionine synthase activity, Skin rash, Recurren...	OMIM:277380
Mitochondrial Complex Iv Deficiency, Nuclear Type 20	Elevated hepatic transaminase, Hepatomegaly, Hyperalaninemia, Hyperprolinemia, Pulmonary arterial...	OMIM:619064
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Elevated hepatic transaminase, Hepatomegaly, Recurrent respiratory infections, Portal hypertensio...	ORPHA:79124
Atopic Keratoconjunctivitis	Corneal opacity, Keratitis, Keratoconjunctivitis sicca, Chemosis, Blepharitis, Corneal neovascula...	ORPHA:163934
Interstitial Nephritis, Karyomegalic	Glycosuria, Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:614817
Agammaglobulinemia 9, Autosomal Recessive	Agammaglobulinemia, Recurrent bacterial infections, Eczematoid dermatitis, Seborrheic dermatitis	OMIM:619693
Mitochondrial Complex I Deficiency, Nuclear Type 4	Increased serum pyruvate, Lethargy, Ataxia	OMIM:618225
Vitamin B12-Unresponsive Methylmalonic Acidemia	Hepatomegaly, Ataxia, Hyperammonemia, Choreoathetosis, Cardiomyopathy, Lethargy, Pancreatitis	ORPHA:27
Pyruvate Dehydrogenase E1-Alpha Deficiency	Increased serum pyruvate, Choreoathetosis, Episodic ataxia, Hyperalaninemia, Lethargy	OMIM:312170
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis	Decreased proportion of CD8-positive T cells, Decreased circulating total IgM, Decreased proporti...	OMIM:611926
Combined Immunodeficiency Due To Zap70 Deficiency	Recurrent bacterial skin infections, Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thromb...	ORPHA:911
Necrotizing Enterocolitis	Shock, Neonatal sepsis, Hyponatremia, Peritonitis, Bradycardia, Hypotension, Lethargy	ORPHA:391673
Holocarboxylase Synthetase Deficiency	Ataxia, Eczema, Anorexia, Hyperammonemia, Keratoconjunctivitis, Lethargy, Perioral eczema	ORPHA:79242
Alopecia Antibody Deficiency	Recurrent respiratory infections, Decreased circulating antibody level	ORPHA:1006
Immunodeficiency 92	Hepatomegaly, Recurrent oral herpes, Osteomyelitis, Persistent CMV viremia, Cholangitis, Pneumoni...	OMIM:619652
Complete Atrioventricular Septal Defect	Hepatomegaly, Abnormal EKG, Left-to-right shunt, Tachycardia, Right ventricular failure, Third he...	ORPHA:1329
Mitochondrial Complex I Deficiency, Nuclear Type 6	Lethargy, Hypertrophic cardiomyopathy, Ataxia	OMIM:618228
Proteasome-Associated Autoinflammatory Syndrome 3	Elevated hepatic transaminase, Hepatomegaly, Myositis, Sinusitis, Skin rash, Hypertriglyceridemia...	OMIM:617591
Unclassified Myelodysplastic Syndrome	Acute myeloid leukemia, Leukocytosis, Abnormal lactate dehydrogenase level, Bone marrow hypocellu...	ORPHA:98827
Mitochondrial Complex I Deficiency, Nuclear Type 5	Hepatomegaly, Ataxia, Lethargy, Dysphagia	OMIM:618226
Leukoencephalopathy With Vanishing White Matter 1	Lethargy, Unsteady gait, Gait disturbance	OMIM:603896
Central Diabetes Insipidus	Hyponatremia, Anorexia, Depression, Lethargy, Polydipsia	ORPHA:178029
Immunodeficiency 55	Absent natural killer cells, Lymphopenia, Myelodysplasia, Neutropenia	OMIM:617827
Autosomal Recessive Dopa-Responsive Dystonia	Bradykinesia, Lethargy, Ataxia, Gait ataxia	ORPHA:101150
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Lethargy, Tachycardia, Agitation	ORPHA:276608
Immunodeficiency 68	T lymphocytopenia, Abnormal natural killer cell count, B lymphocytopenia, Abscess	OMIM:612260
Thrombotic Thrombocytopenic Purpura	Decreased serum creatinine, Reticulocytosis, Microangiopathic hemolytic anemia, Thrombocytopenia	ORPHA:54057
Infantile Liver Failure Syndrome 2	Elevated hepatic transaminase, Acute hepatic failure, Jaundice, Hyperammonemia, Cardiomyopathy, P...	OMIM:616483
Thiamine-Responsive Megaloblastic Anemia Syndrome	Cardiac arrest, Anorexia, Paroxysmal atrial tachycardia, Congestive heart failure, Lethargy	ORPHA:49827
X-Linked Agammaglobulinemia	Recurrent cutaneous abscess formation, Sinusitis, Osteomyelitis, Skin rash, Recurrent pneumonia, ...	ORPHA:47
Carnitine-Acylcarnitine Translocase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Cardiac arrest, Elevated circulating creatine kinase...	OMIM:212138
Immunodeficiency 17	Recurrent respiratory infections, Autoimmune hemolytic anemia, Decreased proportion of CD8-positi...	OMIM:615607
Carnitine Palmitoyl Transferase 1A Deficiency	Elevated hepatic transaminase, Hepatomegaly, Sudden cardiac death, Arrhythmia, Transient hyperlip...	ORPHA:156
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies	Elevated circulating C-reactive protein concentration, Recurrent pneumonia, Hepatosplenomegaly, D...	OMIM:619750
Roifman Syndrome	Noncompaction cardiomyopathy, Eczema, Recurrent pneumonia, Hepatosplenomegaly, Decreased circulat...	ORPHA:353298
Isolated Atp Synthase Deficiency	Hepatomegaly, Cataract, Ataxia, Dilated cardiomyopathy, Hyperammonemia, Arrhythmia, Hyperalaninem...	ORPHA:254913
Combined Oxidative Phosphorylation Deficiency 2	Elevated hepatic transaminase, Lethargy	OMIM:610498
Immunodeficiency 59 And Hypoglycemia	Hepatomegaly, Complete or near-complete absence of specific antibody response to unconjugated pne...	OMIM:233600
Hyperphenylalaninemia, Bh4-Deficient, B	Choreoathetosis, Lethargy, Dysphagia, Hyperphenylalaninemia	OMIM:233910
Renal Tubular Acidosis, Distal, 1	Hypokalemia, Osteomalacia, Elevated circulating creatinine concentration, Hypocalcemia	OMIM:179800
Mitochondrial Complex Iii Deficiency, Nuclear Type 8	Ataxia, Elevated circulating acylcarnitine concentration, Abnormal circulating creatine kinase co...	OMIM:615838
Febrile Infection-Related Epilepsy Syndrome	Lethargy, Sinusitis	ORPHA:163703
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas...	OMIM:612924
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Prolonged QT interval, Hepatomegaly, Elevated hepatic transaminase, Tachycardia, Inflammatory abn...	ORPHA:26793
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3	Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas...	OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2	Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas...	OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6	Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas...	OMIM:612926
T-Cell Immunodeficiency With Thymic Aplasia	Recurrent infection of the gastrointestinal tract, Recurrent urinary tract infections, Meningitis...	ORPHA:83471
Immunodeficiency 22	Pericarditis, Recurrent upper respiratory tract infections, Capillary leak, Decreased circulating...	OMIM:615758
Immunodeficiency 67	Transient neutropenia, Liver abscess, Recurrent staphylococcal infections, Increased circulating ...	OMIM:607676
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Hepatomegaly, Pulmonary embolism, Recurrent infections, Decreased circulating antibody level, Hyp...	OMIM:226300
Immunodeficiency 36 With Lymphoproliferation	Persistent CMV viremia, Recurrent upper respiratory tract infections, Bronchiectasis, Persistent ...	OMIM:616005
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Hepatomegaly, Necrotizing enterocolitis, Elevated circulating creatine kinase concentration, Sudd...	OMIM:201475
Hyperlysinuria With Hyperammonemia	Lethargy, Hyperlysinemia, Hyperammonemia	OMIM:238750
Glutaric Acidemia Type 3	Elevated circulating glutaric acid concentration, Impulsivity, Lethargy, Abnormality of circulati...	ORPHA:35706
Gaba-Transaminase Deficiency	Lethargy	OMIM:613163
Hemophagocytic Syndrome Associated With An Infection	Pancytopenia, Invasive parasitic infection, Increased circulating ferritin concentration, Thrombo...	ORPHA:158048
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6	Pancytopenia, Myelodysplasia, Decreased circulating antibody level, Bone marrow hypocellularity, ...	OMIM:619767
Transcobalamin Ii Deficiency	Hepatomegaly, Ataxia, Decreased circulating total IgM, Lethargy, Decreased circulating IgG level,...	OMIM:275350
Aniridia 1	Anterior subcapsular cataract, Cataract, Ectopia lentis, Corneal erosion, Hypoplasia of the iris,...	OMIM:106210
Propionic Acidemia	Hepatomegaly, Eczema, Cerebellar hemorrhage, Hyperammonemia, Cardiomyopathy, Hyperglycinemia, Pro...	OMIM:606054
Idiopathic Congenital Hypothyroidism	Neonatal hyperbilirubinemia, Bradycardia, Lethargy, Prolonged neonatal jaundice	ORPHA:95717
Citrullinemia Type I	Ataxia, Hyperammonemia, Elevated plasma citrulline, Lethargy, Hepatic failure	ORPHA:247525
Autoimmune Hepatitis	Elevated hepatic transaminase, Gastrointestinal hemorrhage, Viral hepatitis, Diffuse hepatic stea...	ORPHA:2137
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Acute hepatic failure, Prolonged QT interval, Elevated hepatic transaminase, Abnormal circulating...	ORPHA:71212
Late-Onset Isolated Acth Deficiency	Hyponatremia, Orthostatic hypotension, Hypercalcemia, Anorexia, Hyperkalemia, Sepsis, Hepatitis, ...	ORPHA:199299
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas...	OMIM:612925
Immunodeficiency 47	Elevated hepatic transaminase, Hepatomegaly, Tricuspid regurgitation, Decreased circulating coppe...	OMIM:300972
Symptomatic Form Of Hfe-Related Hemochromatosis	Hepatomegaly, Cholangiocarcinoma, Portal hypertension, Congestive heart failure, Increased circul...	ORPHA:465508
Congenital Analbuminemia	Hyperlipidemia, Increased alpha-globulin, Hypoalbuminemia, Increased circulating antibody level, ...	ORPHA:86816
Vitamin B12-Responsive Methylmalonic Acidemia	Hepatomegaly, Lethargy, Hyperammonemia	ORPHA:28
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment	Elevated circulating creatinine concentration	OMIM:242530
Mitochondrial Trifunctional Protein Deficiency 1	Elevated hepatic transaminase, Elevated circulating aspartate aminotransferase concentration, Ele...	OMIM:609015
Netherton Syndrome	Recurrent respiratory infections, Recurrent skin infections, Eczema, Allergic rhinitis, Increased...	OMIM:256500
Mevalonic Aciduria	Elevated hepatic transaminase, Cataract, Skin rash, Elevated circulating creatine kinase concentr...	OMIM:610377
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Elevated circulating C-reactive protein concentration, Hashimoto thyroiditis, Hepatomegaly, Ataxi...	OMIM:615688
Isovaleric Acidemia	Lethargy, Cerebellar hemorrhage, Bone marrow hypocellularity	OMIM:243500
Immunodeficiency, Common Variable, 8, With Autoimmunity	Recurrent respiratory infections, Atrophic gastritis, Pneumonia, Erythema nodosum, Recurrent pneu...	OMIM:614700
Netherton Syndrome	Recurrent respiratory infections, Skin rash, Eczema, Increased circulating IgE level, Recurrent i...	ORPHA:634
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency	Lethargy, Ataxia, Dysmetria, Truncal ataxia	OMIM:250620
Riddle Syndrome	Conjunctival telangiectasia, Ataxia, Pneumonia, Elevated circulating alpha-fetoprotein concentrat...	ORPHA:420741
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Elevated hepatic transaminase, Hepatomegaly, Cataract, Elevated circulating aspartate aminotransf...	OMIM:608836
Hereditary Folate Malabsorption	Recurrent respiratory infections, Recurrent urinary tract infections, Anorexia, Cheilitis, Decrea...	ORPHA:90045
Nephrogenic Syndrome Of Inappropriate Antidiuresis	Hyponatremia, Decreased circulating renin level, Reduced blood urea nitrogen, Decreased serum cre...	OMIM:300539
Evans Syndrome	Epistaxis, Jaundice, Syncope, Lethargy, Bruising susceptibility, Petechiae	ORPHA:1959
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Methylmalonic acidemia, Hepatomegaly, Cerebellar hemorrhage, Hyperammonemia, Tubulointerstitial n...	OMIM:251000
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Recurrent respiratory infections, Psoriasiform dermatitis, Eczema, Decreased lymphocyte prolifera...	OMIM:606367
Chilblain Lupus	Inflammatory abnormality of the skin, Skin rash, Raynaud phenomenon, Discoid lupus rash, Increase...	ORPHA:90280
Common Variable Immunodeficiency	Elevated hepatic transaminase, Recurrent respiratory infections, Pneumonia, Vasculitis, Bronchiec...	ORPHA:1572
Carnitine-Acylcarnitine Translocase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Elevated creatine kinase after exercise, Elevated ci...	ORPHA:159
Idiopathic Non-Lupus Full-House Nephropathy	Elevated circulating creatinine concentration	ORPHA:567544
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia	Hepatomegaly, Ataxia, Dilated cardiomyopathy, Hyperglycinemia, Lethargy, Hypertrophic cardiomyopathy	OMIM:614299
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Hepatomegaly, Tricuspid regurgitation, Bronchiectasis, Cholestasis, Recurrent otitis media, Pulmo...	OMIM:620233
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Elevated hepatic transaminase, Hepatomegaly, Tachycardia, Abnormal circulating fatty-acid concent...	ORPHA:263455
Nephronophthisis-Like Nephropathy 2	Elevated circulating creatinine concentration	OMIM:619468
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Methylmalonic acidemia, Decreased methionine synthase activity, Hypomethioninemia, Hyperhomocysti...	OMIM:614857
Autoimmune Disease, Multisystem, Infantile-Onset, 1	Eczema, Recurrent upper respiratory tract infections, Hepatosplenomegaly, Decreased circulating a...	OMIM:615952
Primary Biliary Cholangitis	Orthostatic hypotension, Abnormal circulating lipid concentration, Portal hypertension, Increased...	ORPHA:186
Riboflavin Deficiency	Elevated circulating acylcarnitine concentration, Lethargy	OMIM:615026
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome	Increased circulating IgM level, Increased circulating IgE level, Reduced antigen-specific T cell...	OMIM:617241
Congenital Disorder Of Glycosylation, Type Ih	Thrombocytopenia, Elevated circulating creatinine concentration, Hypoalbuminemia, Anemia	OMIM:608104
Leukocyte Adhesion Deficiency, Type Iii	Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Sepsis, Hepatosplenomegaly, Recurrent b...	OMIM:612840
Pearson Marrow-Pancreas Syndrome	Elevated hepatic transaminase, Hepatomegaly, Anorexia, Macronodular cirrhosis, Recurrent infectio...	OMIM:557000
Pneumocystosis	Pneumocystis jirovecii pneumonia, Acute infectious pneumonia, Interstitial pneumonitis, Increased...	ORPHA:723
Coenzyme Q10 Deficiency, Primary, 8	Elevated circulating creatinine concentration	OMIM:616733
Hereditary Central Diabetes Insipidus	Lethargy, Polydipsia	ORPHA:30925
Central Neurocytoma	Lethargy, Ataxia, Depression	ORPHA:73256
Leishmaniasis	Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Anemia, Leukopenia, Increased circula...	ORPHA:507
Immunodeficiency 93 And Hypertrophic Cardiomyopathy	Wolff-Parkinson-White syndrome, Broad-based gait, Tricuspid regurgitation, Bronchiectasis, Agamma...	OMIM:619705
Pontocerebellar Hypoplasia, Type 6	Lethargy	OMIM:611523
Good Syndrome	Recurrent respiratory infections, Recurrent urinary tract infections, Sinusitis, Recurrent skin i...	ORPHA:169105
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Neonatal sepsis, Recurrent respiratory infections, Recurrent urinary tract infections, Intermitte...	OMIM:612541
Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due To	Ataxia, Low plasma citrulline, Hyperammonemia, Episodic ammonia intoxication, Lethargy, Hypoargin...	OMIM:237300
3-Hydroxy-3-Methylglutaric Aciduria	Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Ataxia, Cardiac arrest, Anorexia...	ORPHA:20
Familial Thyroid Dyshormonogenesis	Bradycardia, Prolonged neonatal jaundice, Lethargy, Abnormal circulating thyroglobulin level, Neo...	ORPHA:95716
Pyruvate Dehydrogenase Deficiency	Choreoathetosis, Lethargy, Ataxia, Gait disturbance	ORPHA:765
Autosomal Dominant Progressive External Ophthalmoplegia	Elevated hepatic transaminase, Atrial fibrillation, Bipolar affective disorder, Elevated circulat...	ORPHA:254892
Mitochondrial Trifunctional Protein Deficiency	Tricuspid regurgitation, Congestive heart failure, Cholestasis, Cardiomyopathy, Mitral regurgitat...	ORPHA:746
Posterior Urethral Valve	Hypertension, Recurrent urinary tract infections, Lethargy, Pyelonephritis	ORPHA:93110
Q Fever	Anorexia, Abnormal left ventricular function, Abnormality of the liver, Cholecystitis, Meningitis...	ORPHA:781
Maple Syrup Urine Disease	Elevated circulating branched chain amino acid concentration, Ataxia, Elevated circulating L-allo...	OMIM:248600
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Elevated circulating C-reactive protein concentration, Perianal abscess, Iron deficiency anemia, ...	OMIM:301074
Immunodeficiency 82 With Systemic Inflammation	Decreased proportion of naive T cells, Decreased circulating total IgG, B-cell lymphoma, Splenome...	OMIM:619381
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Recurrent Aspergillus infections, Recurrent bacterial skin infections, Liver abscess, Recurrent S...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Recurrent Aspergillus infections, Recurrent bacterial skin infections, Liver abscess, Recurrent S...	OMIM:233710
Dopamine Beta-Hydroxylase Deficiency	Hypoglycemia, Insulin resistance, Elevated circulating creatinine concentration, Hyperinsulinemia...	ORPHA:230
Coach Syndrome 2	Elevated circulating creatinine concentration	OMIM:619111
Cerebral Creatine Deficiency Syndrome 2	Decreased serum creatinine, Elevated circulating guanidinoacetic acid concentration	OMIM:612736
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Decreased HDL cholesterol concentration, Hypoalbuminemia, Elevated gamma-glutamyltransferase leve...	ORPHA:247598
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Reticulocytosis, Hyperlipidemia, Schistocytosis, Elevated circulating creatinine concentration, M...	OMIM:235400
Diffuse Alveolar Hemorrhage	Thrombocytopenia, Leukocytosis, Elevated circulating creatinine concentration, Anemia	ORPHA:90060
Cystic Echinococcosis	Elevated hepatic transaminase, Hepatomegaly, Invasive parasitic infection, Unusual infection, Jau...	ORPHA:400
Developmental And Epileptic Encephalopathy 41	Inability to walk, Lethargy	OMIM:617105
Susac Syndrome	Lethargy, Apathy, Gait ataxia	ORPHA:838
Erythema Elevatum Diutinum	Skin rash, Vasculitis in the skin, Increased circulating antibody level	ORPHA:90000
Amoebiasis Due To Free-Living Amoebae	Unusual skin infection, Restlessness, Sinusitis, Ataxia, Pneumonia, Pustule, Lethargy, Arrhythmia...	ORPHA:68
Autoinflammatory Disease, Systemic, X-Linked	Anterior uveitis, Complete or near-complete absence of specific antibody response to unconjugated...	OMIM:301081
Biotinidase Deficiency	Hepatomegaly, Skin rash, Recurrent skin infections, Ataxia, Seborrheic dermatitis, Hyperammonemia...	OMIM:253260
Ataxia-Telangiectasia	Conjunctival telangiectasia, Sinusitis, Ataxia, Elevated circulating alpha-fetoprotein concentrat...	OMIM:208900
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Recurrent skin infections, Eczema, Keratitis, Recurrent upper respiratory tract infections, Hyper...	OMIM:308205
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To	Ataxia, Elevated circulating aspartate aminotransferase concentration, Elevated circulating uraci...	OMIM:311250
Schimke Immunoosseous Dysplasia	Waddling gait, Transient ischemic attack, Abnormal immunoglobulin level, Recurrent infections, De...	OMIM:242900
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Corneal opacity, Elevated circulating creatine kinase concentration, Cerebral hemorrhage, Polycor...	OMIM:175780
Primary Intestinal Lymphangiectasia	Cryptococcal meningitis, Decreased circulating antibody level, Decreased circulating total IgM, H...	ORPHA:90362
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2	Tachycardia, Cataract, Skin rash, Ataxia, Aggressive behavior, Dilated cardiomyopathy, Gait ataxi...	OMIM:618321
Cirrhosis, Familial	Jaundice, Micronodular cirrhosis, Fulminant hepatitis, Biliary cirrhosis, Hypertension, Increased...	OMIM:215600
Peroxisome Biogenesis Disorder 5A (Zellweger)	Conjugated hyperbilirubinemia, Elevated gamma-glutamyltransferase level, Lethargy, Intrahepatic b...	OMIM:614866
Thrombotic Thrombocytopenic Purpura, Hereditary	Reticulocytosis, Schistocytosis, Elevated circulating creatinine concentration, Microangiopathic ...	OMIM:274150
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Hepatomegaly, Inflammatory abnormality of the skin, Sinusitis, Skin rash, Pneumonia, Absent speci...	OMIM:102700
Whim Syndrome	Sinusitis, Severe periodontitis, Pneumonia, Lymphadenitis, Recurrent upper respiratory tract infe...	ORPHA:51636
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Recurrent Aspergillus infections, Recurrent bacterial skin infections, Liver abscess, Recurrent S...	OMIM:233690
Secondary Intestinal Lymphangiectasia	Decreased circulating IgG1 level, Right ventricular failure, Reduced circulating transferrin conc...	ORPHA:90363
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Hepatomegaly, Pneumonia, Recurrent upper respiratory tract infections, Increased circulating IgE ...	OMIM:602450
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis	Elevated circulating creatinine concentration, Elevated circulating creatine kinase concentration	OMIM:620138
Macrocephaly/Autism Syndrome	Recurrent otitis media, Hepatomegaly, Decreased circulating antibody level, Recurrent infections	OMIM:605309
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Lethargy, Hypokalemia, Anorexia, Hepatosplenomegaly	OMIM:611590
Deafness-Lymphedema-Leukemia Syndrome	Recurrent respiratory infections, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acute le...	ORPHA:3226
Benign Samaritan Congenital Myopathy	Lethargy	ORPHA:324581
Mitochondrial Complex Iv Deficiency, Nuclear Type 2	Increased serum pyruvate, Hepatomegaly, Cardiac arrest, Lethargy, Hypertrophic cardiomyopathy	OMIM:604377
Idiopathic Intracranial Hypertension	Lethargy, Depression	ORPHA:238624
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Hyponatremia, Psoriasiform dermatitis, Recurrent viral infections, Recurrent pharyngitis, Recurre...	ORPHA:293978
Sim1-Related Prader-Willi-Like Syndrome	Recurrent respiratory infections, Abnormal temper tantrums, Skin-picking, Lethargy, Polyphagia	ORPHA:398079
Lacrimoauriculodentodigital Syndrome	Increased corneal thickness, Keratoconjunctivitis, Arthritis, Keratoconjunctivitis sicca, Limbal ...	ORPHA:2363
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Elevated hepatic transaminase, Hypertyrosinemia, Conjugated hyperbilirubinemia, Microvesicular he...	OMIM:617156
Methylmalonic Aciduria And Homocystinuria, Cbld Type	Methylmalonic acidemia, Decreased methionine synthase activity, Hypomethioninemia, Spastic ataxia...	OMIM:277410
Eisenmenger Syndrome	Elevated circulating C-reactive protein concentration, Ventricular tachycardia, Abnormality of th...	ORPHA:97214
Magel2-Related Prader-Willi-Like Syndrome	Recurrent respiratory infections, Impulsivity, Abnormal temper tantrums, Compulsive behaviors, Sk...	ORPHA:398069
Pseudo-Torch Syndrome 2	Elevated hepatic transaminase, Hepatomegaly, Cerebral hemorrhage, Bradycardia, Lethargy, Petechiae	OMIM:617397
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency	Elevated hepatic transaminase, Lethargy, Hyperlipidemia	ORPHA:2089
Bloom Syndrome	Recurrent herpes, Recurrent urinary tract infections, Skin rash, Pneumonia, Severe varicella zost...	ORPHA:125
Leukocyte Adhesion Deficiency, Type I	Recurrent gram-negative bacterial infections, Recurrent staphylococcal infections, Leukocytosis, ...	OMIM:116920
2-Methylbutyryl-Coa Dehydrogenase Deficiency	Lethargy	OMIM:610006
Papa Syndrome	Increased inflammatory response, Myositis, Acne, Pustule, Arthritis, Increased circulating antibo...	ORPHA:69126
Aregenerative Anemia	Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Bone marrow hypocellularity, Neutropenia, ...	ORPHA:101096
Adult-Onset Still Disease	Elevated hepatic transaminase, Neutrophilia, Recurrent pharyngitis, Leukocytosis, Splenomegaly, H...	ORPHA:829
Mody	Elevated hemoglobin A1c, Transient neonatal diabetes mellitus, Insulin-resistant diabetes mellitu...	ORPHA:552
Ogden Syndrome	Cardiogenic shock, Arrhythmia, Shuffling gait, Lethargy	ORPHA:276432
Car T Cell Therapy-Associated Cytokine Release Syndrome	Elevated hepatic transaminase, Increased inflammatory response, Tachycardia, Increased circulatin...	ORPHA:542323
Insulinoma	Lethargy, Polyphagia, Palpitations	ORPHA:97279
Methylcobalamin Deficiency Type Cble	Hypomethioninemia, Hyperhomocystinemia, Hypertension, Abnormality of the liver, Lethargy	ORPHA:2169
Hyper-Igd Syndrome	Skin rash, Increased circulating IgA level, Lymphadenitis, Recurrent infections, Hepatosplenomega...	OMIM:260920
Adenine Phosphoribosyltransferase Deficiency	Elevated circulating creatinine concentration	OMIM:614723
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome	Elevated hepatic transaminase, Hepatomegaly, Spastic gait, Hepatitis, Hyperammonemia, Hyperornith...	ORPHA:415
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Recurrent respiratory infections, Psoriasiform dermatitis, Enterocolitis, Decreased circulating a...	OMIM:243150
Congenital Enterovirus Infection	Abnormal macrophage morphology, Thrombocytopenia, Leukocytosis, Sepsis, Leukopenia, Hypoalbuminem...	ORPHA:292
Hypercalcemia, Infantile, 1	Lethargy, Hypercalcemia	OMIM:143880
Interstitial Lung Disease 2	Pulmonary arterial hypertension, Increased circulating antibody level, Cirrhosis	OMIM:178500
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities	Decreased circulating antibody level, Erythroderma, Hepatic cysts, Recurrent infections	OMIM:617425
Cystinosis, Adult Nonnephropathic	Elevated circulating creatinine concentration	OMIM:219750
Multiple Mitochondrial Dysfunctions Syndrome 1	Elevated circulating 2-hydroxybutyric acid concentration, Pulmonary arterial hypertension, Hyperg...	OMIM:605711
Acute Interstitial Pneumonia	Elevated circulating creatinine concentration, Reduced hematocrit, Elevated circulating C-reactiv...	ORPHA:79126
Bacterial Toxic-Shock Syndrome	Elevated circulating creatine kinase concentration, Abscess, Elevated circulating creatinine conc...	ORPHA:36234
Medulloblastoma	Elevated hepatic transaminase, Ataxia, Cerebellar hemorrhage, Dysmetria, Progressive cerebellar a...	ORPHA:616
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of	Elevated hepatic transaminase, Hepatomegaly, Hepatic steatosis, Lethargy	OMIM:201450
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type)	Gait ataxia, Lethargy, Inability to walk, Dysphagia	OMIM:607483
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly	Elevated circulating creatinine concentration, Supernumerary nipple	OMIM:614376
Familial Hypoaldosteronism	Hyponatremia, Orthostatic hypotension, Hyperkalemia, Hypovolemia, Increased circulating renin lev...	ORPHA:427
Nephronophthisis 2	Elevated circulating creatinine concentration, Hyperkalemia	OMIM:602088
Isolated Thyroid-Stimulating Hormone Deficiency	Depression, Bradycardia, Attention deficit hyperactivity disorder, Prolonged neonatal jaundice, H...	ORPHA:90674
Combined Oxidative Phosphorylation Deficiency 11	Hepatomegaly, Cardiomyopathy, Decreased liver function, Lethargy, Hepatic steatosis	OMIM:614922
Griscelli Syndrome	Hepatomegaly, Ataxia, Jaundice, Hepatitis, Decreased circulating antibody level, Bone marrow hypo...	ORPHA:381
Citrullinemia, Classic	Hepatomegaly, Ataxia, Hyperglutaminemia, Hyperammonemia, Episodic ammonia intoxication, Cirrhosis...	OMIM:215700
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency	Abnormal circulating enzyme concentration or activity, Hypomethioninemia, Ataxia, Hyperhomocystin...	ORPHA:395
Alg12-Cdg	Elevated hepatic transaminase, Abnormal circulating enzyme concentration or activity, Recurrent r...	ORPHA:79324
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease	Hypokalemia, Elevated circulating creatinine concentration, Elevated circulating alpha-fetoprotei...	OMIM:613095
Hereditary Arterial And Articular Multiple Calcification Syndrome	Decreased serum creatinine	ORPHA:289601
Cholera	Hyponatremia, Tachycardia, Abnormal blood ion concentration, Hypovolemic shock, Hypokalemia, Hypo...	ORPHA:173
Aromatic L-Amino Acid Decarboxylase Deficiency	Tongue thrusting, Choreoathetosis, Athetosis, Hypotension, Lethargy	OMIM:608643
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome	Abnormal bleeding, Hypoproteinemia, Decreased circulating antibody level	ORPHA:1116
Refractory Anemia With Excess Blasts	Acute myeloid leukemia, Anemia of inadequate production, Chronic infection, Leukocytosis, Abnorma...	ORPHA:86839
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis	Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Impaired n...	OMIM:608203
Warburg-Cinotti Syndrome	Limbal stem cell deficiency, Corneal neovascularization, Decreased corneal thickness, Symblepharon	OMIM:618175
Thyroid Dyshormonogenesis 1	Lethargy	OMIM:274400
Autoimmune Lymphoproliferative Syndrome	Increased circulating IgA level, Increased circulating IgG level, Increased circulating IgM level...	OMIM:601859
Hereditary Fructose Intolerance	Hepatomegaly, Cataract, Reduced circulating aldolase concentration, Jaundice, Hypermagnesemia, Hy...	ORPHA:469
Angiostrongyliasis	Increased circulating IgA level, Unusual CNS infection, Increased circulating specific IgE antibo...	ORPHA:74
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To	Jaundice, Low plasma citrulline, Hyperglutaminemia, Hyperammonemia, Hyperprolinemia, Hypoornithin...	OMIM:615751
Insulin-Resistance Syndrome Type B	Fasting hyperinsulinemia, Leukopenia, Glucose intolerance, Hypoalbuminemia, Fasting hypoglycemia,...	ORPHA:2298
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency	Acute hyperammonemia, Seborrheic dermatitis, Hyperammonemia, Hyperleucinemia, Propionyl-CoA carbo...	OMIM:210210
Hypouricemia, Renal, 1	Elevated circulating creatinine concentration, Hypouricemia	OMIM:220150
Argininosuccinic Aciduria	Hepatomegaly, Ataxia, Elevated circulating aspartate aminotransferase concentration, Hyperglutami...	OMIM:207900
Multiple Myeloma	Osteopenia, Hypercalcemia, Splenomegaly, Elevated circulating creatinine concentration, Hyperprot...	ORPHA:29073
Icf Syndrome	Recurrent respiratory infections, Decreased circulating antibody level	ORPHA:2268
Pyomyositis	Recurrent cutaneous abscess formation, Leukocytosis, Sepsis, Recurrent infections	ORPHA:764
Aapoaiv Amyloidosis	Hyperlipidemia, Diabetes mellitus, Elevated circulating creatinine concentration	ORPHA:439232
Igg4-Related Aortitis	Increased inflammatory response, Increased circulating IgG4 level, Elevated circulating C-reactiv...	ORPHA:449400
Chronic Myeloid Leukemia	Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo...	ORPHA:521
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy	Recurrent respiratory infections, Candida esophagitis, Perianal abscess, Severe varicella zoster ...	OMIM:618213
Congenital Disorder Of Glycosylation, Type Iit	Decreased serum creatinine, Decreased HDL cholesterol concentration, Iron deficiency anemia, Hypo...	OMIM:618885
Diarrhea 10, Protein-Losing Enteropathy Type	Hyponatremia, Hypertriglyceridemia, Recurrent upper respiratory tract infections, Decreased circu...	OMIM:618183
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Methylmalonic acidemia, Hypomethioninemia, Ataxia, Pulmonary embolism, Jaundice, Dilated cardiomy...	ORPHA:79282
Primary Sjögren Syndrome	Myositis, Chronic active hepatitis, Tubulointerstitial nephritis, Decreased circulating complemen...	ORPHA:289390
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Hyponatremia, Reticulocytosis, Leukocytosis, Schistocytosis, Elevated circulating creatinine conc...	ORPHA:90038
Granulomatous Disease, Chronic, X-Linked	Recurrent Aspergillus infections, Recurrent bacterial skin infections, Liver abscess, Recurrent S...	OMIM:306400
Polycythemia Vera	Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato...	OMIM:263300
Sickle Cell Disease	Hemolytic anemia, Splenomegaly, Jaundice, Leukocytosis, Splenic infarction, Recurrent bacterial i...	OMIM:603903
Renal Hypoplasia, Bilateral	Hyponatremia, Hyperkalemia, Hypertension, Astigmatism, Lethargy	ORPHA:97362
Resistance To Thyrotropin-Releasing Hormone Syndrome	Lethargy, Abnormal circulating thyroglobulin level, Depression, Prolonged neonatal jaundice	ORPHA:99832
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency	Acute hepatic steatosis, Acute hyperammonemia, Lethargy	OMIM:210200
Aicardi-Goutieres Syndrome 7	Hepatomegaly, Atrophic gastritis, Skin rash, Chilblains, Pneumonia, Hematemesis, Increased circul...	OMIM:615846
Mannosidosis, Alpha B, Lysosomal	Hepatomegaly, Limb ataxia, Gait ataxia, Decreased circulating antibody level, Recurrent bacterial...	OMIM:248500
Mgat2-Cdg	Abnormal bleeding, Reduced level of N-acetylglucosaminyltransferase II, Decreased circulating ant...	ORPHA:79329
Histiocytoid Cardiomyopathy	Wolff-Parkinson-White syndrome, Hepatomegaly, Atrial flutter, Tachycardia, Atrial fibrillation, C...	ORPHA:137675
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Recurrent skin infections, Corneal opacity, Sepsis, Decreased circulating antibody level, Recurre...	ORPHA:79396
Proteasome-Associated Autoinflammatory Syndrome 1	Decreased HDL cholesterol concentration, Increased circulating interleukin 6 concentration, Eleva...	OMIM:256040
Hereditary Amyloidosis With Primary Renal Involvement	Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ...	ORPHA:85450
Methylmalonic Aciduria, Cblb Type	Methylmalonic acidemia, Hepatomegaly, Hyperammonemia, Hyperglycinemia, Decreased methylmalonyl-Co...	OMIM:251110
Renal Cysts And Diabetes Syndrome	Diabetes mellitus, Impaired glucose tolerance, Maturity-onset diabetes of the young, Elevated cir...	OMIM:137920
Parenteral Nutrition-Associated Cholestasis	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Biliary hyperplasia, Conjugated...	ORPHA:567983
Exercise-Induced Malignant Hyperthermia	Abnormal bleeding, Prolonged QT interval, Ataxia, Elevated circulating creatine kinase concentrat...	ORPHA:466650
Neurodegeneration And Seizures Due To Copper Transport Defect	Lethargy, Tricuspid regurgitation, Abnormal circulating ceruloplasmin concentration, Abnormal cir...	OMIM:620306
Cowden Syndrome 1	Decreased circulating antibody level, Cataract, Thyroiditis, Recurrent infections	OMIM:158350
Cryoglobulinemia, Familial Mixed	Elevated circulating creatinine concentration	OMIM:123550
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency	Elevated circulating creatinine concentration, Hyperuricemia	ORPHA:79233
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of	Cardiomyopathy, Ataxia, Sutural cataract, Lethargy	OMIM:201470
Hypothyroidism Due To Tsh Receptor Mutations	Increased circulating thyroglobulin level, Bradycardia, Prolonged neonatal jaundice, Lethargy, Ne...	ORPHA:90673
Nijmegen Breakage Syndrome	Conjunctival telangiectasia, Recurrent urinary tract infections, Sinusitis, Hyperactivity, Dysgam...	OMIM:251260
Hydranencephaly	Lethargy, Meningitis, Antenatal intracerebral hemorrhage	ORPHA:2177
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2	Conjunctival telangiectasia, Elevated circulating creatine kinase concentration, Elevated circula...	OMIM:606002
Al Amyloidosis	Gastrointestinal hemorrhage, Hepatomegaly, Abnormal EKG, Postural hypotension with compensatory t...	ORPHA:85443
Senior-Loken Syndrome 1	Elevated circulating creatinine concentration, Anemia	OMIM:266900
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Elevated circulating creatinine concentration, Hyperuricemia, Anemia	OMIM:174000
Psoriasis-Related Juvenile Idiopathic Arthritis	Generalized morning stiffness, Limitation of joint mobility, Oligoarthritis, Enthesitis, Sacroili...	ORPHA:85436
Methylmalonic Aciduria, Cbla Type	Methylmalonic acidemia, Hepatomegaly, Hyperammonemia, Hyperglycinemia, Decreased methylmalonyl-Co...	OMIM:251100
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Normocytic anemia, Normochromic anemia, Elevated circulating creatinine concentration	ORPHA:247691
Fructose-1,6-Bisphosphatase Deficiency	Hepatomegaly, Tachycardia, Lethargy	OMIM:229700
Mitochondrial Complex I Deficiency, Nuclear Type 9	Lethargy	OMIM:618232
Holocarboxylase Synthetase Deficiency	Lethargy, Skin rash, Hyperammonemia	OMIM:253270
Juvenile Nephropathic Cystinosis	Hyponatremia, Hypouricemia, Elevated circulating creatinine concentration, Glycosuria, Aminoacidu...	ORPHA:411634
Gaucher Disease Type 3	Hepatomegaly, Recurrent respiratory infections, Ataxia, Increased circulating antibody level, Gai...	ORPHA:77261
Genetic Transient Congenital Hypothyroidism	Lethargy, Increased circulating thyroglobulin level, Prolonged neonatal jaundice	ORPHA:226316
Autoimmune Polyendocrinopathy Type 4	Atrophic gastritis, Iridocyclitis, Hepatitis, Biliary cirrhosis, Chronic mucocutaneous candidiasi...	ORPHA:227990
Isolated Complex I Deficiency	Increased serum pyruvate, Hepatomegaly, Ataxia, Lethargy, Hypertrophic cardiomyopathy	ORPHA:2609
Epilepsy-Telangiectasia Syndrome	Conjunctival telangiectasia, Decreased circulating IgA level, Decreased circulating antibody level	ORPHA:1951
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Jaundice, Poikilocytosis, Prolonged ne...	OMIM:300908
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Methylmalonic acidemia, Decreased methionine synthase activity, Hypomethioninemia, Hyperhomocysti...	OMIM:277400
46,Xy Sex Reversal 4	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:154230
Autoimmune Polyendocrinopathy Type 3	Atrophic gastritis, Iridocyclitis, Hepatitis, Biliary cirrhosis, Chronic mucocutaneous candidiasi...	ORPHA:227982
Congenital Disorder Of Glycosylation, Type Iil	Decreased specific anti-polysaccharide antibody level, Elevated circulating creatine kinase conce...	OMIM:614576
Fructose Intolerance, Hereditary	Elevated hepatic transaminase, Hepatomegaly, Gastrointestinal hemorrhage, Jaundice, Bicarbonaturi...	OMIM:229600
Cysticercosis	Ataxia, Iridocyclitis, Apathy, Increased circulating antibody level, Infectious encephalitis	ORPHA:1560
Pyoderma Gangrenosum	Myositis, Pustule, Inflammation of the large intestine, Increased circulating antibody level, Rhe...	ORPHA:48104
Igg4-Related Retroperitoneal Fibrosis	Normocytic anemia, Elevated circulating creatinine concentration, Elevated circulating C-reactive...	ORPHA:49041
Sézary Syndrome	Hepatomegaly, Abnormal immunoglobulin level, Erythroderma	ORPHA:3162
Autoimmune Lymphoproliferative Syndrome	Uveitis, Increased circulating IgG level, Colitis, Decreased circulating IgG level, Abnormal blee...	ORPHA:3261
Infection-Related Hemolytic Uremic Syndrome	Hyponatremia, Brain abscess, Increased circulating interleukin 6 concentration, Acute colitis, Pn...	ORPHA:544482
Mitochondrial Complex I Deficiency, Nuclear Type 1	Hepatomegaly, Ataxia, Concentric hypertrophic cardiomyopathy, Hyperalaninemia, Hypertrophic cardi...	OMIM:252010
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:223900
Hereditary Chronic Pancreatitis	Leukocytosis, Abnormal circulating enzyme concentration or activity, Jaundice	ORPHA:676
Caroli Syndrome	Elevated hepatic transaminase, Liver abscess, Portal hypertension, Hypersplenism, Intrahepatic ch...	ORPHA:480520
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Agammaglobulinemia, Recurrent respiratory infections	ORPHA:935
Semilobar Holoprosencephaly	Inability to walk, Depression, Abnormal heart rate variability, Apathy, Aspiration pneumonia, Dys...	ORPHA:220386
Alobar Holoprosencephaly	Inability to walk, Depression, Abnormal heart rate variability, Apathy, Aspiration pneumonia, Dys...	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Inability to walk, Depression, Abnormal heart rate variability, Apathy, Aspiration pneumonia, Dys...	ORPHA:93926
Lobar Holoprosencephaly	Inability to walk, Depression, Abnormal heart rate variability, Apathy, Aspiration pneumonia, Dys...	ORPHA:93924
Paroxysmal Nocturnal Hemoglobinuria	Myocardial infarction, Pulmonary embolism, Abnormal erythrocyte enzyme level, Decreased serum iro...	ORPHA:447
Autoimmune Lymphoproliferative Syndrome, Type Iia	Increased circulating IgA level, Increased circulating IgG level, Increased circulating IgM level...	OMIM:603909
Subcorneal Pustular Dermatosis	Pustule, Increased circulating antibody level, Rheumatoid arthritis	ORPHA:48377
Obesity Due To Congenital Leptin Deficiency	Decreased T cell activation, Hypertriglyceridemia, Recurrent upper respiratory tract infections	ORPHA:66628
Obesity Due To Leptin Receptor Gene Deficiency	Decreased T cell activation, Hypertriglyceridemia, Recurrent upper respiratory tract infections	ORPHA:179494
Kufor-Rakeb Syndrome	Bradykinesia, Apathy, Gait disturbance, Difficulty walking, Dysphagia, Lethargy	ORPHA:306674
Calcific Aortic Disease With Immunologic Abnormalities, Familial	Aortic regurgitation, Aortic valve stenosis, Increased circulating antibody level	OMIM:114065
Dyskeratosis Congenita, Autosomal Recessive 5	Colitis, Bone marrow hypocellularity, Decreased circulating antibody level	OMIM:615190
Papillorenal Syndrome	Elevated circulating creatinine concentration	OMIM:120330
Hemorrhagic Fever-Renal Syndrome	Thrombocytopenia, Leukocytosis, Hyperkalemia, Elevated circulating creatinine concentration, Hype...	ORPHA:340
Wolfram Syndrome 2	Abnormal bleeding, Depression, Impaired collagen-induced platelet aggregation, Decreased circulat...	OMIM:604928
Pauci-Immune Glomerulonephritis	Granulomatosis, Elevated circulating creatinine concentration	ORPHA:93126
Yellow Fever	Neutrophilia, Elevated circulating creatine kinase concentration, Leukocytosis, Elevated circulat...	ORPHA:99829
Oligomeganephronia	Elevated circulating creatinine concentration	ORPHA:2260
Vici Syndrome	Decreased circulating IgG level, Recurrent respiratory infections, Elevated circulating creatine ...	OMIM:242840
Gaucher Disease	Abnormal bleeding, Hepatomegaly, Osteomyelitis, Corneal opacity, Ataxia, Elevated circulating C-r...	ORPHA:355
Autosomal Dominant Polycystic Kidney Disease	Elevated circulating creatinine concentration	ORPHA:730
Schimke Immuno-Osseous Dysplasia	Impaired T cell function, Abnormal lymphocyte physiology, Hyperlipidemia, Recurrent infections, B...	ORPHA:1830
Hereditary Orotic Aciduria	Recurrent respiratory infections, Impaired T cell function	ORPHA:30
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function	Lethargy, Abnormal circulating thyroglobulin level, Bradycardia, Prolonged neonatal jaundice	ORPHA:226307
Ectodermal Dysplasia And Immunodeficiency 2	Hepatomegaly, Defective production of NFKB1-dependent cytokines, Recurrent infection of the gastr...	OMIM:612132
Hypothyroidism, Congenital, Nongoitrous, 2	Lethargy, Increased circulating thyroglobulin level, Bradycardia, Hyperbilirubinemia	OMIM:218700
Cardiogenic Shock	Elevated circulating creatinine concentration	ORPHA:97292
Glycerol Kinase Deficiency	Lethargy, Hypertriglyceridemia, Hyperglycerolemia, Chronic pancreatitis	OMIM:307030
Tubulointerstitial Nephritis And Uveitis Syndrome	Nongranulomatous uveitis, Anterior uveitis, Cataract, Skin rash, Elevated circulating C-reactive ...	ORPHA:91500
Leukocyte Adhesion Deficiency	Acute myeloid leukemia, Recurrent urinary tract infections, Polycythemia, Recurrent staphylococca...	ORPHA:2968
Multiple Endocrine Neoplasia Type 1	Hypercalcemia, Anorexia, Shortened QT interval, Hematemesis, Depression, Melena, Hypertension, Le...	ORPHA:652
Structural Heart Defects And Renal Anomalies Syndrome	Elevated circulating creatinine concentration	OMIM:617478
Diamond-Blackfan Anemia	Lethargy, Developmental glaucoma, Developmental cataract, Elevated red cell adenosine deaminase a...	ORPHA:124
Igg4-Related Kidney Disease	Eosinophilia, Elevated circulating creatinine concentration, Decreased retinol-binding protein le...	ORPHA:449395
Igg4-Related Submandibular Gland Disease	Cholangitis, Increased circulating IgG4 level, Increased circulating IgE level, Increased circula...	ORPHA:449432
Glycine Encephalopathy	Lethargy, Hyperglycinemia	ORPHA:407
Sarcoidosis, Susceptibility To, 1	Hepatomegaly, Abnormality of T cell physiology, Anorexia, Iridocyclitis, Bronchiectasis, Uveitis,...	OMIM:181000
Velocardiofacial Syndrome	Hypocalcemia, Impaired T cell function, Recurrent infections	OMIM:192430
Biliary, Renal, Neurologic, And Skeletal Syndrome	Osteopenia, Conjugated hyperbilirubinemia, Increased circulating ferritin concentration, Splenome...	OMIM:619534
Orotic Aciduria	Impaired T cell function	OMIM:258900
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Abnormality of T cell physiology, Hypocalcemia, Hypocalcemic seizures	ORPHA:2237
Pineoblastoma	Lethargy	ORPHA:251909
Progeroid Short Stature With Pigmented Nevi	Impaired T cell function, Recurrent viral infections	OMIM:176690
Digeorge Syndrome	Impaired T cell function, Recurrent pneumonia, Recurrent infections, Hypocalcemia, Recurrent sinu...	OMIM:188400

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 Ifnar1

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 Ifnar1.

There are 7 publications which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation.	G3 (Bethesda, Md.) (June 2020)	Ifnar1^{tm2a(EUCOMM)Wtsi}	PMC7263671
Rejuvenating conventional dendritic cells and T follicular helper cell formation after vaccination.	eLife (March 2020)	Ifnar1^{tm1a(EUCOMM)Wtsi}	PMC7093110
T cell response kinetics determines neuroinfection outcomes during murine HSV infection.	JCI insight (March 2020)	Ifnar1^{tm1a(EUCOMM)Wtsi}	PMC7141405
High-throughput phenotyping reveals expansive genetic and structural underpinnings of immune variation.	Nature immunology (December 2019)	Ifnar1^{tm2a(EUCOMM)Wtsi}	PMC7338221
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis.	Nature communications (August 2019)	Ifnar1^{tm2a(EUCOMM)Wtsi}	PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss.	PLoS biology (April 2019)	Ifnar1^{tm2a(EUCOMM)Wtsi}	PMC6459510
Genome wide in vivo mouse screen data from studies to assess host regulation of metastatic colonisation.	Scientific data (September 2017)	Ifnar1^{tm2a(EUCOMM)Wtsi}	PMC5827107

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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.

MGI Allele	Allele Type	Produced
Ifnar1^{tm2a(EUCOMM)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, Targeting vectors, ES Cells
Ifnar1^{tm1a(EUCOMM)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Ifnar1 MGI:107658

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

X-ray

X-ray

DSS Histology

X-ray

Anti-nuclear antibody assay

X-ray

Mesenteric Lymph Node Immunophenotyping

Ear epidermis immunophenotyping

Legacy Phenotype Associated Images

Human diseases caused by Ifnar1 mutations

Histopathology

IMPC related publications

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