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Gene: N4bp1 MGI:2136825

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Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
NEDD4 binding protein 1
Synonyms:
N/A

Order Alleles

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by N4bp1 mutations

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

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

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

The table below shows human diseases predicted to be associated to N4bp1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Immunodeficiency 51
Recurrent respiratory infections, Recurrent skin infections, Eczema, Pneumonia, Pustule, Chronic ... OMIM:613953
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Decreased circulating IgG level, Atrophic gastritis, Psoriasiform dermatitis, Autoimmune hemolyti... OMIM:616100
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Atrophic gastritis, Pure red cell aplasia, Sepsis, Recurrent candida infections, Inflammation of ... ORPHA:436159
Immunodeficiency, Common Variable, 14
Psoriasiform dermatitis, Decreased proportion of class-switched memory B cells, Decreased circula... OMIM:617765
Immunodeficiency 14B, Autosomal Recessive
Neutrophilia, Reduced natural killer cell activity, Leukocytosis, Recurrent pneumonia, Monocytosi... OMIM:619281
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Hemolytic anemia, Autoimmune hemolytic anemia, Psoriasiform dermatitis, Decreased proportion of C... OMIM:606367
Immunodeficiency 15B
Decreased circulating antibody level, Agammaglobulinemia, Monocytosis, Recurrent infections, Chro... OMIM:615592
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Recurrent bacter... OMIM:202700
Adult Idiopathic Neutropenia
Fever, Helicobacter pylori infection, Abnormal neutrophil count, Recurrent infections, Monocytosi... ORPHA:2688
Ras-Associated Autoimmune Leukoproliferative Disorder
Hemolytic anemia, Pancytopenia, Recurrent respiratory infections, Autoimmune thrombocytopenia, Sp... OMIM:614470
Psoriasis 14, Pustular
Fever, Parakeratosis, Neutrophilia, Psoriasiform dermatitis, Cholangitis, Elevated circulating C-... OMIM:614204
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Chronic gastritis, Liver abscess, Cholangitis, Bronchitis, Sepsis, Cholecystitis, Decreased circu... ORPHA:183675
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Respiratory distress, Myositis, Abnormal blood ion concentration, Sepsis, Tubulointerstitial neph... ORPHA:37042
Combined Immunodeficiency, X-Linked
Sinusitis, Pneumonia, Decreased proportion of CD8-positive T cells, Otitis media, Decreased propo... OMIM:312863
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections
Increased circulating interleukin 6 concentration, Recurrent skin infections, Recurrent upper res... OMIM:618944
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Fever, Psoriasiform dermatitis, Acne, Osteomyelitis, Skin rash, Elevated circulating C-reactive p... ORPHA:324964
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Herpes simplex encephalitis, Increased circulating IgE level, Bronchiectasis, Hepatosplenomegaly,... OMIM:618982
Immunodeficiency 105
Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating IgG level, Panc... OMIM:619924
Immunodeficiency 48
Recurrent respiratory infections, Pneumonia, Absence of CD8-positive T cells, Splenomegaly, Recur... OMIM:269840
Autosomal Dominant Severe Congenital Neutropenia
Acute myeloid leukemia, Recurrent sinopulmonary infections, Fever, Recurrent skin infections, Pne... ORPHA:486
Immunodeficiency, Common Variable, 10
Decreased circulating IgG level, Psoriasiform dermatitis, Frequent Giardia lamblia infestation, A... OMIM:615577
Immunodeficiency 32B
Fever, Recurrent respiratory infections, Neutrophilia, Sinusitis, Pneumonia, Eosinophilia, Thromb... OMIM:226990
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Acute myeloid leukemia, Refractory anemia, Eczema, Asthma, Leukopenia, Monocytosis, Bone marrow h... OMIM:616871
Bleeding Disorder, Platelet-Type, 21
Psoriasiform dermatitis, Eczema, Increased mean platelet volume, Recurrent viral infections, Impa... OMIM:617443
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Autoimmune hemolytic anemia, Glomerulonephritis, Pneumonia, Plasmacytosis, Increased circulating ... OMIM:247800
Severe Combined Immunodeficiency, X-Linked
Impaired lymphocyte transformation with phytohemagglutinin, Skin rash, Pneumonia, Reduced natural... OMIM:300400
Primary Erythromelalgia
Pruritus, Recurrent respiratory infections, Leukemia, Hypothermia ORPHA:90026
Immunodeficiency 104
Pneumonia, Eczema, Splenomegaly, Recurrent opportunistic infections, Chronic mucocutaneous candid... OMIM:608971
Combined Immunodeficiency Due To Dock8 Deficiency
Recurrent bacterial skin infections, Recurrent respiratory infections, Pneumonia, Recurrent viral... ORPHA:217390
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Decreased circulating IgG level, Chronic oral candidiasis, Fever, Pneumonia, Eosinophilia, Recurr... ORPHA:169160
Immunodeficiency 91 And Hyperinflammation
Neutrophilia, Membranoproliferative glomerulonephritis, Maculopapular exanthema, Elevated circula... OMIM:619644
Immunodeficiency, Common Variable, 1
Pneumonia, Impaired T cell function, Splenomegaly, Recurrent pneumonia, Bronchiectasis, Neutropen... OMIM:607594
Immunodeficiency 97 With Autoinflammation
Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Colitis, Decreased circulating Ig... OMIM:619802
Immunodeficiency 102
Increased circulating interleukin 6 concentration, Sepsis, Leukopenia, Decreased circulating IgG ... OMIM:301082
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Recurrent respiratory infections, Recurrent sinopulmonary infections, Recurrent ear infections, S... OMIM:615513
Caspase 8 Deficiency
Decreased circulating IgG level, Recurrent sinopulmonary infections, Complete or near-complete ab... OMIM:607271
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Impaired lymphocyte transformation with phytohemagglutinin, Recurrent respiratory infections, Aut... OMIM:243150
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Recurrent respiratory infections, Psoriasiform dermatitis, Recurrent skin infections, Eosinophili... OMIM:615508
Immunodeficiency 50
Recurrent respiratory infections, Recurrent urinary tract infections, Eczema, Decreased circulati... OMIM:300988
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Pneumonia, Purulent rhinitis, Recurrent opportunistic infections, Arthritis, T lymphocytopenia, C... OMIM:601457
Immunodeficiency 11A
Recurrent respiratory infections, Decreased proportion of CD4+CD25+ regulatory T cells, Decreased... OMIM:615206
Immunodeficiency 62
Autoimmune thrombocytopenia, Severe recurrent varicella, Recurrent upper respiratory tract infect... OMIM:618459
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
Pneumonia, Recurrent upper respiratory tract infections, Atopic dermatitis, T lymphocytopenia, Ab... OMIM:618806
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Decreased proportion of naive T cells, Sepsis, Recurrent cutaneous fungal infections, Increased c... ORPHA:276
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Lymphadenitis, Sepsis, Leukopenia, T lymphocytopenia, Neutropenia, Decreased circulating IgG leve... OMIM:618986
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Fever, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, Recurren... OMIM:613101
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Neonatal respiratory distress, Psoriasiform dermatitis, Recurrent urinary tract infections, Recur... ORPHA:221139
Immunodeficiency 52
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Increase... OMIM:617514
Congenital Enterovirus Infection
Respiratory distress, Fever, Abnormal macrophage morphology, Skin rash, Hypothermia, Myocarditis,... ORPHA:292
Immunodeficiency 11B With Atopic Dermatitis
Pneumonia, Eosinophilia, Asthma, Increased circulating IgE level, Atopic dermatitis, Bronchiectas... OMIM:617638
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Elevated circulating C-reactive... OMIM:615559
Acute Lung Injury
Respiratory distress, Fever, Acute pancreatitis, Increased circulating interleukin 6 concentratio... ORPHA:178320
Lymphoproliferative Syndrome, X-Linked, 2
Fever, Recurrent respiratory infections, Pancytopenia, Hypertriglyceridemia, Acne, Recurrent skin... OMIM:300635
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Hyponatremia, Psoriasiform dermatitis, Severe B lymphocytopenia, Autoimmune thrombocytopenia, Rec... ORPHA:293978
Macrophage Activation Syndrome
Fever, Increased inflammatory response, Increased circulating interleukin 6 concentration, Hypert... ORPHA:158061
Immunodeficiency 27A
Fever, Increased inflammatory response, Abnormal bronchus physiology, Pneumonia, Splenomegaly, Le... OMIM:209950
B-Cell Expansion With Nfkb And T-Cell Anergy
Decreased specific antibody response to polysaccharide vaccine, Splenomegaly, Recurrent infection... OMIM:616452
Immunodeficiency 49
Impaired lymphocyte transformation with phytohemagglutinin, Psoriasiform dermatitis, Eosinophilia... OMIM:617237
Familial Hemophagocytic Lymphohistiocytosis
Fever, Increased circulating interleukin 6 concentration, Hypertriglyceridemia, Skin rash, Maculo... ORPHA:540
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased proportion of CD4-positive T cells, Recurrent respiratory infections, Autoimmune thromb... OMIM:300853
Isolated Agammaglobulinemia
Fever, Recurrent cutaneous abscess formation, Recurrent respiratory infections, Sinusitis, Skin r... ORPHA:229717
Tularemia
Respiratory distress, Brain abscess, Fever, Skin rash, Pneumonia, Erythema nodosum, Thrombocytope... ORPHA:3392
Sweet Syndrome
Acute myeloid leukemia, Predominantly dermal neutrophilic infiltrate, Myositis, Neutrophilia, Acn... ORPHA:3243
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Anemia, Leukocytosis, Elevated circulating C-reactive protein concentration, Ulcerative colitis OMIM:619398
Immunodeficiency 57 With Autoinflammation
Recurrent respiratory infections, Skin rash, Gastritis, Perianal abscess, Bronchiectasis, Decreas... OMIM:618108
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Eczema, Abnormal immunoglobulin level, Recurrent mycobacterial infections, Increased T cell count... ORPHA:98813
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Recurrent sinopulmonary infections, Eczema, Eosinophilic infiltration of the esophagus, Eosinophi... OMIM:243700
Immunodeficiency 89 And Autoimmunity
Pulmonary bulla, Reduced circulating interleukin 17A concentration, Reduced circulating interleuk... OMIM:619632
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, B lymphocytopenia, Neutropenia OMIM:613107
Reticular Dysgenesis
Fever, Recurrent respiratory infections, Skin rash, Abnormality of neutrophils, Sepsis, Decreased... ORPHA:33355
Lig4 Syndrome
Recurrent respiratory infections, Pancytopenia, Psoriasiform dermatitis, Asthma, Acute lymphoblas... OMIM:606593
Psoriasis 2
Hyperkeratosis, Parakeratosis, Psoriasiform dermatitis OMIM:602723
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Autoimmune hemolytic anemia, Fluctuating splenomegaly, Autoimmune thrombocytopenia, Bronchiectasi... OMIM:619220
Immunodeficiency, Common Variable, 12, With Autoimmunity
Recurrent sinopulmonary infections, Atrophic gastritis, Autoimmune hemolytic anemia, Recurrent sk... OMIM:616576
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis
Decreased HDL cholesterol concentration, Psoriasiform dermatitis, Decreased LDL cholesterol conce... OMIM:616834
Immunodeficiency 46
Chronic oral candidiasis, Recurrent sinopulmonary infections, Intermittent thrombocytopenia, Seps... OMIM:616740
Hemophagocytic Lymphohistiocytosis, Familial, 3
Fever, Hypertriglyceridemia, Reduced natural killer cell activity, Hepatosplenomegaly, Hemophagoc... OMIM:608898
Immunodeficiency 110 With Lymphoproliferation
Autoimmune hemolytic anemia, Recurrent skin infections, Recurrent viral infections, Recurrent pne... OMIM:614868
Immunodeficiency 109 With Lymphoproliferation
Pancytopenia, Hypertriglyceridemia, Splenomegaly, Bronchiectasis, Recurrent sinusitis, Absent cir... OMIM:620282
Immunodeficiency 21
Osteomyelitis, Aplastic anemia, Recurrent viral infections, B lymphocytopenia, Recurrent fungal i... OMIM:614172
Immunodeficiency 69
Fever, Pancytopenia, Skin rash, Splenomegaly, Leukocytosis, Increased circulating ferritin concen... OMIM:618963
Activated Pi3K-Delta Syndrome
Pneumonia, Splenomegaly, Recurrent tonsillitis, Bronchiectasis, Decreased circulating antibody le... ORPHA:397596
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... ORPHA:70593
Whim Syndrome 1
Recurrent upper respiratory tract infections, Bronchiectasis, Decreased circulating antibody leve... OMIM:193670
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Pneumonia, Recurrent upper respiratory tract infections, Recurrent candida infections, Decreased ... OMIM:614069
C1Q Deficiency 2
Chilblains, Elevated circulating C-reactive protein concentration, Discoid lupus rash, Atelectasi... OMIM:620321
H Syndrome
Psoriasiform dermatitis, Hypertriglyceridemia, Microcytic anemia, Recurrent pharyngitis, Bronchie... ORPHA:168569
Bullous Pemphigoid
Psoriasiform dermatitis, Eczema, Recurrent infections ORPHA:703
Agammaglobulinemia 7, Autosomal Recessive
Recurrent respiratory infections, Erythema nodosum, Recurrent infections, Agammaglobulinemia, Neu... OMIM:615214
Neutropenia, Severe Congenital, X-Linked
Eczema, Recurrent bacterial infections, Neutropenia, Monocytopenia, Decreased CD4:CD8 ratio OMIM:300299
Mycosis Fungoides
Pruritus, Psoriasiform dermatitis, Eczema OMIM:254400
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Recurrent viral infections, Recurrent candida infections, T lymphocytopenia, Increased circulatin... ORPHA:169154
Immunodeficiency 92
Osteomyelitis, Pneumonia, Cholangitis, Leukocytosis, Decreased proportion of class-switched memor... OMIM:619652
Hemophagocytic Lymphohistiocytosis, Familial, 4
Fever, Hypertriglyceridemia, Skin rash, Splenomegaly, Increased circulating ferritin concentratio... OMIM:603552
Pneumocystosis
Fever, Multiple pulmonary cysts, Respiratory failure requiring assisted ventilation, Abnormal neu... ORPHA:723
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Sinusitis, Severe B lymphocytopenia, Recurrent viral infections, Autoimmune thrombocytopenia, Dec... OMIM:102700
Cernunnos-Xlf Deficiency
Recurrent viral infections, Decreased circulating antibody level, Anemia, T lymphocytopenia, Recu... ORPHA:169079
Immunodeficiency 103, Susceptibility To Fungal Infections
Abnormal B cell count, Abnormal proportion of CD8-positive T cells, Decreased serum iron, Increas... OMIM:212050
Agammaglobulinemia 8B, Autosomal Recessive
Pancytopenia, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Recur... OMIM:619824
Immunodeficiency, Common Variable, 8, With Autoimmunity
Atrophic gastritis, Sepsis, Uveitis, Inflammation of the large intestine, Colitis, Conjunctivitis... OMIM:614700
Agammaglobulinemia 2, Autosomal Recessive
Recurrent respiratory infections, Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulin... OMIM:613500
Immunodeficiency 60 And Autoimmunity
Fever, Recurrent sinopulmonary infections, Pancytopenia, Splenomegaly, Bronchiectasis, Ulcerative... OMIM:618394
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Sideroblastic anemia, Increased circulating ferritin concentration, Elevated transferrin saturati... OMIM:205950
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Recurrent respiratory infections, Osteomyelitis, Recurrent skin infections, Eczema, Eosinophilia,... OMIM:618282
Lymphoproliferative Syndrome, X-Linked, 1
Recurrent respiratory infections, Pancytopenia, Aplastic anemia, Dysgammaglobulinemia, Elevated c... OMIM:308240
Immunodeficiency 64 With Lymphoproliferation
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... OMIM:618534
Combined Immunodeficiency Due To Zap70 Deficiency
Recurrent viral infections, Lymphadenitis, Colitis, Lymphocytosis, Autoimmune thrombocytopenia, H... ORPHA:911
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Inflammatory abnormality of the skin, Sinusitis, Recurrent opportunistic infections, Recurrent pn... ORPHA:277
Psoriasis 1, Susceptibility To
Arthritis, Psoriasiform dermatitis OMIM:177900
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Decreased circulating IgG level, Recurrent skin infections, Asthma, Recurrent pneumonia, Recurren... OMIM:619752
Kid Syndrome
Recurrent cutaneous abscess formation, Recurrent bacterial skin infections, Psoriasiform dermatit... ORPHA:477
Agammaglobulinemia 4, Autosomal Recessive
Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total ... OMIM:613502
Pemphigus Foliaceus
Psoriasiform dermatitis, Acantholysis, Pruritus, Pustule, Crusting erythematous dermatitis, Eryth... ORPHA:79481
Neonatal Alloimmune Neutropenia
Fever, Pneumonia, Sepsis, Neutropenia in presence of anti-neutropil antibodies, Temperature insta... ORPHA:464370
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Chronic oral candidiasis, Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Recurrent pneumonia, Neu... OMIM:150550
Psoriasis-Related Juvenile Idiopathic Arthritis
Anterior uveitis, Psoriasiform dermatitis, Skin rash, Pruritus, Iridocyclitis, Oligoarthritis, Uv... ORPHA:85436
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Macrocytic anemia, Pancytopenia, Thrombocytosis, Eczema, Anemia of inadequate production, Megalob... OMIM:617780
Adult Acute Respiratory Distress Syndrome
Increased circulating interleukin 6 concentration, Pneumonia, Dyspnea, Sepsis, Hypoxemia, Abnorma... ORPHA:70578
Purine Nucleoside Phosphorylase Deficiency
Autoimmune hemolytic anemia, Sinusitis, Hypouricemia, Pneumonia, Pure red cell aplasia, Autoimmun... OMIM:613179
Hemoglobin D Disease
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... ORPHA:90039
Agammaglobulinemia 6, Autosomal Recessive
Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total ... OMIM:612692
Spontaneous Periodic Hypothermia
Skin rash, Abnormal pattern of respiration, Hypothermia ORPHA:29822
Immunodeficiency 43
Decreased circulating IgG level, Recurrent respiratory infections, Hypoproteinemia, Lung abscess,... OMIM:241600
X-Linked Intellectual Disability-Seizures-Psoriasis Syndrome
Psoriasiform dermatitis ORPHA:3052
Mental Retardation And Psoriasis
Psoriasiform dermatitis OMIM:309480
Persistent Polyclonal B-Cell Lymphocytosis
Splenomegaly, Decreased circulating total IgM, Lymphocytosis, Recurrent infections OMIM:606445
Staphylococcal Necrotizing Pneumonia
Respiratory distress, Fever, Neutrophilia, Pneumonia, Elevated circulating C-reactive protein con... ORPHA:36238
Immunodeficiency 13
Lymphopenia, Recurrent pneumonia, Decreased proportion of CD4-positive helper T cells, Bronchiect... OMIM:615518
Niemann-Pick Disease, Type B
Recurrent respiratory infections, Decreased HDL cholesterol concentration, Hypertriglyceridemia, ... OMIM:607616
Igg4-Related Retroperitoneal Fibrosis
Normocytic anemia, Fever, Deep dermal perivascular inflammatory infiltrate, Psoriasiform dermatit... ORPHA:49041
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Abnormal T cell count, Recurrent viral infections, Lymphadenitis, Decreased proportion of CD3-pos... ORPHA:331206
Autoinflammation With Infantile Enterocolitis
Fever, Pancytopenia, Skin rash, Elevated circulating C-reactive protein concentration, Diffuse al... OMIM:616050
Immunodeficiency By Defective Expression Of Mhc Class Ii
Sinusitis, Abnormal CD4:CD8 ratio, Recurrent viral infections, Acute otitis media, Recurrent cand... ORPHA:572
Lymphoproliferative Syndrome 1
Pancytopenia, Autoimmune hemolytic anemia, Elevated circulating C-reactive protein concentration,... OMIM:613011
Autosomal Agammaglobulinemia
Fever, Recurrent respiratory infections, Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infe... ORPHA:33110
Schnitzler Syndrome
Fever, Skin rash, Pruritus, Splenomegaly, Leukocytosis, Arthritis, Increased circulating IgM leve... ORPHA:37748
Hemoglobin E-Beta-Thalassemia Syndrome
Increased circulating ferritin concentration, Abnormal hemoglobin, Anemia ORPHA:231249
Autoimmune Lymphoproliferative Syndrome, Type Iia
Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Increased circulating IgA... OMIM:603909
Meningococcal Meningitis
Fever, Neonatal respiratory distress, Skin rash, Elevated circulating C-reactive protein concentr... ORPHA:33475
Idiopathic Bronchiectasis
Fever, Crackles, Productive cough, Respiratory tract infection, Dyspnea, Wheezing, Emphysema, Bro... ORPHA:60033
Bone Marrow Failure Syndrome 4
Recurrent respiratory infections, Eczema, Decreased circulating antibody level, Anemia, Leukopeni... OMIM:618116
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Sepsis, Leukopenia, Hypoplasia of the thymus, Otitis media, Neutropenia, Perianal abscess, Respir... OMIM:612541
Timothy Syndrome
Pneumonia, Bronchitis, Hypothermia, Recurrent infections, Hypocalcemia, Pulmonary arterial hypert... OMIM:601005
Idiopathic Achalasia
Bronchitis, Wheezing, Cough, Decreased prealbumin level, Recurrent aspiration pneumonia ORPHA:930
Chilblain Lupus
Inflammatory abnormality of the skin, Skin rash, Discoid lupus rash, Asthma, Chronic myelomonocyt... ORPHA:90280
Cd8 Deficiency, Familial
Recurrent respiratory infections, Recurrent viral infections, Absence of CD8-positive T cells, Br... OMIM:608957
Immunodeficiency With Hyper-Igm, Type 4
Autoimmune hemolytic anemia, Osteomyelitis, Impaired Ig class switch recombination, Autoimmune th... OMIM:608184
Immunodeficiency 36 With Lymphoproliferation
Decreased circulating IgG level, Splenomegaly, Recurrent upper respiratory tract infections, Bron... OMIM:616005
T-Cell Immunodeficiency With Thymic Aplasia
Sinusitis, Decreased proportion of naive T cells, Sepsis, Recurrent candida infections, T lymphoc... ORPHA:83471
Omenn Syndrome
Severe B lymphocytopenia, Eosinophilia, Pneumonia, Recurrent viral infections, Splenomegaly, Thro... OMIM:603554
Immunodeficiency, Common Variable, 2
Impaired T cell function, Splenomegaly, Recurrent pneumonia, Bronchiectasis, Recurrent bacterial ... OMIM:240500
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Recurrent infections, Leukopenia, I... OMIM:615285
Pgm3-Cdg
Abnormal CD4:CD8 ratio, Recurrent viral infections, Sepsis, Leukopenia, T lymphocytopenia, Increa... ORPHA:443811
Congenital Disorder Of Glycosylation, Type Iic
Neutrophilia, Pneumonia, Bronchiolitis, Periodontitis, Reduction of neutrophil motility, Recurren... OMIM:266265
Psoriasis 15, Pustular, Susceptibility To
Psoriasiform dermatitis OMIM:616106
Aspergillosis
Sinusitis, Cough, Neutropenia, Infectious encephalitis, Chronic pulmonary obstruction, Bronchiect... ORPHA:1163
Coenzyme Q10 Deficiency, Primary, 5
Hyperalaninemia, Hypothermia, Respiratory insufficiency OMIM:614654
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Recurrent urinary tract infections, Sinusitis, Enteroviral dermatomyositis syndrome, Pneumonia, R... OMIM:307200
Malaria
Respiratory distress, Fever, Elevated circulating C-reactive protein concentration, Thrombocytope... ORPHA:673
Riboflavin Deficiency
Elevated circulating acylcarnitine concentration, Hypothermia OMIM:615026
Selective Igm Deficiency
Fasciitis, Recurrent staphylococcal infections, Lymphadenitis, Paraproteinemia, Sepsis, Recurrent... ORPHA:331235
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Recurrent viral infections, T lymphocytopenia, Recurrent abscess formation, Cough, Recurrent aspi... ORPHA:79124
Congenital Atransferrinemia
Arthritis, Anemia, Recurrent infections ORPHA:1195
Avian Influenza
Respiratory distress, Elevated circulating creatine kinase concentration, Elevated circulating C-... ORPHA:454836
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Neonatal respiratory distress, Hypothermia, Respiratory insufficiency, Respiratory failure, Hyper... OMIM:245400
Eosinophilia, Familial
Recurrent bronchitis, Eosinophilia, Thrombocytopenia, Leukocytosis, Anemia OMIM:131400
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections
Recurrent respiratory infections, Eosinophilia, Eczema, Keratitis, Increased circulating IgE leve... OMIM:618523
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Pneumoni... OMIM:600802
Agammaglobulinemia, X-Linked
Sepsis, T lymphocytopenia, Conjunctivitis, Decreased circulating IgE, Neutropenia, Decreased circ... OMIM:300755
T-Cell Immunodeficiency With Thymic Aplasia
Aplasia of the thymus, Recurrent viral infections, Recurrent bronchopulmonary infections, Recurre... OMIM:242700
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Recurrent sinopulmonary infections, Enterocolitis, Ulcerative colitis, Decreased proportion of cl... OMIM:614878
Mu-Heavy Chain Disease
Fever, Abnormal B cell count, Splenomegaly, Increased circulating antibody level, Anemia ORPHA:100024
Trimethylaminuria
Splenomegaly, Recurrent pneumonia, Anemia, Neutropenia OMIM:602079
Sapho Syndrome
Psoriasiform dermatitis, Acne, Osteomyelitis, Skin rash, Recurrent skin infections, Pustule, Syno... ORPHA:793
Vulvovaginal Gingival Syndrome
Pruritus, Parakeratosis, Abnormality of tumor necrosis factor secretion ORPHA:83453
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Recurrent respiratory infections, Autoimmune hemolytic anemia, Recurrent urinary tract infections... OMIM:618495
Immunodeficiency 22
Fever, Pericarditis, Abscess, Thrombocytopenia, Recurrent upper respiratory tract infections, Dec... OMIM:615758
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Skin rash, Recurrent viral infections, Recurrent mycobacterial infections, Recurrent opportunisti... ORPHA:275
X-Linked Agammaglobulinemia
Fever, Recurrent cutaneous abscess formation, Sinusitis, Osteomyelitis, Skin rash, Thrombocytopen... ORPHA:47
Immunodeficiency 75 With Lymphoproliferation
Recurrent respiratory infections, Decreased proportion of class-switched memory B cells, Bronchie... OMIM:619126
Immunodeficiency 81
Decreased proportion of CD4-positive T cells, Recurrent cutaneous abscess formation, Autoimmune h... OMIM:619374
Omenn Syndrome
Fever, Pneumonia, Eosinophilia, Pruritus, Splenomegaly, Leukocytosis, Thyroiditis, Sepsis, Erythr... ORPHA:39041
Immunodeficiency 85 And Autoimmunity
Decreased circulating IgG level, Recurrent respiratory infections, Eczema, Oligoarthritis, T lymp... OMIM:619510
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Aplasia of the thymus, Pneumonia, Eosinophilia, Splenomegaly, Recurrent upper respiratory tract i... OMIM:602450
Ciliary Dyskinesia, Primary, 9
Neonatal respiratory distress, Pneumonia, Cough, Bronchiectasis, Decreased nasal nitric oxide, Re... OMIM:612444
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Inflammatory abnormality of the skin, Pneumonia, Episodic tachypnea, Elevat... ORPHA:26793
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Elevated circulating creatine kinase concentration, Hypothermia, Normochromic anemia, Thrombocyto... OMIM:618775
2-Methylbutyryl-Coa Dehydrogenase Deficiency
Apneic episodes in infancy, Hypothermia OMIM:610006
Agammaglobulinemia 1, Autosomal Recessive
Recurrent respiratory infections, Recurrent enteroviral infections, Recurrent pneumonia, Neutrope... OMIM:601495
Immunodeficiency 12
Skin rash, Abnormal lymphocyte count, Recurrent viral infections, Cheilitis, Bronchiectasis, Recu... OMIM:615468
Neuroleptic Malignant Syndrome
Hyponatremia, Fever, Elevated circulating creatine kinase concentration, Hypothermia, Pulmonary e... ORPHA:94093
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Reduced red cell pyruvate kinase ... ORPHA:766
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency
Tegumentary leishmaniasis susceptibility, Pneumonia, Lymphadenitis, Recurrent mycobacterial infec... ORPHA:319552
3-Hydroxy-3-Methylglutaric Aciduria
Fever, Acute pancreatitis, Apnea, Hypothermia, Leukocytosis, Tachypnea, Hyperammonemia, Leukopeni... ORPHA:20
Idiopathic Congenital Hypothyroidism
Neonatal hyperbilirubinemia, Hypothermia ORPHA:95717
Sting-Associated Vasculopathy, Infantile-Onset
Lymphopenia, Myositis, Recurrent respiratory infections, Skin rash, Elevated circulating C-reacti... OMIM:615934
Leishmaniasis
Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Anemia, Leukopenia, Rhinitis, Hypoalb... ORPHA:507
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Bronchiectasis, Decreased proportion of class-switched memory B cells, Agammaglobulinemia, Decrea... OMIM:619705
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Fever, Chronic gastritis, Recurrent respiratory infections, Increased circulating interleukin 6 c... OMIM:301074
Immunodeficiency 40
Respiratory tract infection, Recurrent pneumonia, Eosinophilic granuloma, T lymphocytopenia, Inte... OMIM:616433
Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome
Palmoplantar keratoderma, Aspiration pneumonia OMIM:609528
Combined Immunodeficiency-Enteropathy Spectrum
Autoimmune hemolytic anemia, Psoriasiform dermatitis, Hepatitis, Hypoplasia of the thymus, Rectal... ORPHA:436252
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Acute myeloid leukemia, Fever, Pancytopenia, Hypertriglyceridemia, Elevated circulating C-reactiv... ORPHA:158057
Neutrophilic Dermatosis, Acute Febrile
Increased circulating interleukin 6 concentration, Elevated circulating C-reactive protein concen... OMIM:608068
Dopamine Beta-Hydroxylase Deficiency
Hypothermia, Dyspnea, Elevated circulating creatinine concentration, Rhinitis, Increased blood ur... ORPHA:230
Marburg Hemorrhagic Fever
Elevated circulating creatine kinase concentration, Nonproductive cough, Uveitis, Leukopenia, Hyp... ORPHA:99826
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Sinusitis, Pneumonia, Bronchiectasis, T lymphocytopenia, Increased circulating IgM level, Chronic... OMIM:242860
Rosaï-Dorfman Disease
Fever, Dysgammaglobulinemia, Anemia ORPHA:158014
Bronchiolitis Obliterans With Obstructive Pulmonary Disease
Pneumonia, Reduced forced expiratory volume in one second, Respiratory tract infection, Dyspnea, ... ORPHA:1303
Aregenerative Anemia
Fever, Pancytopenia, Erythroid hypoplasia, Dyspnea, Reticulocytopenia, Bone marrow hypocellularit... ORPHA:101096
Cinca Syndrome
Skin rash, Eosinophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Uve... OMIM:607115
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Autoimmune hemolytic anemia, Eczema, Autoimmune thrombocytopenia, Desquamative interstitial pneum... OMIM:615952
Spondyloarthropathy, Susceptibility To, 1
Anterior uveitis, Psoriasiform dermatitis, Oligoarthritis, Enthesitis, Inflammation of the large ... OMIM:106300
Alpha-1-Antitrypsin Deficiency
Chronic bronchitis, Splenomegaly, Dyspnea, Chronic pulmonary obstruction, Wheezing, Bronchiectasi... OMIM:613490
Bacterial Toxic-Shock Syndrome
Respiratory distress, Fasciitis, Sinusitis, Myositis, Elevated circulating creatine kinase concen... ORPHA:36234
Melioidosis
Fever, Foot osteomyelitis, Unusual skin infection, Liver abscess, Brain abscess, Pneumonia, Lung ... ORPHA:31202
Common Variable Immunodeficiency
Hemolytic anemia, Recurrent respiratory infections, Pneumonia, Autoimmune thrombocytopenia, Splen... ORPHA:1572
Immunodeficiency 58
Colitis, Chronic otitis media, Recurrent cutaneous abscess formation, Chronic pulmonary obstructi... OMIM:618131
Whim Syndrome
Sinusitis, Severe periodontitis, Pneumonia, Respiratory tract infection, Lymphadenitis, Atelectas... ORPHA:51636
Immunodeficiency 82 With Systemic Inflammation
Decreased proportion of naive T cells, Bronchitis, Elevated circulating C-reactive protein concen... OMIM:619381
Scedosporiosis
Fever, Unusual skin infection, Pericarditis, Arthralgia/arthritis, Sinusitis, Pneumonia, Osteomye... ORPHA:449280
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature
Decreased circulating total IgM, Recurrent lower respiratory tract infections, Recurrent upper re... OMIM:615139
Immunodeficiency 96
Eczema, Increased proportion of gamma-delta T cells, Recurrent infections, Decreased circulating ... OMIM:619774
Felty Syndrome
Sinusitis, Sepsis, Neutropenia, Chronic otitis media, Abnormal lymphocyte morphology, Recurrent p... ORPHA:47612
Microlissencephaly
Pneumonia ORPHA:1083
Combined Immunodeficiency Due To Crac Channel Dysfunction
Fever, Hemolytic anemia, Pneumonia, Recurrent viral infections, Splenomegaly, Recurrent mycobacte... ORPHA:169090
Developmental And Epileptic Encephalopathy 78
Hypothermia OMIM:618557
Spinocerebellar Ataxia Type 42
Psoriasiform dermatitis ORPHA:458803
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Fever, Hemolytic anemia, Acute pancreatitis, Eczema, Abscess, Perianal abscess, Lymphadenitis, Sp... OMIM:618935
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... ORPHA:231154
Proteasome-Associated Autoinflammatory Syndrome 3
Myositis, Sinusitis, Skin rash, Hypertriglyceridemia, Thrombocytopenia, Splenomegaly, Recurrent i... OMIM:617591
Alpha-Heavy Chain Disease
Fever, Dysgammaglobulinemia, Splenomegaly, Hypocalcemia, Anemia ORPHA:100025
Allergic Bronchopulmonary Aspergillosis
Abnormal eosinophil morphology, Asthma, Bronchiectasis, Respiratory insufficiency, Low-grade feve... ORPHA:1164
Isolated Congenital Hypoglossia/Aglossia
Respiratory distress, Dyspnea, Upper airway obstruction, Aspiration pneumonia ORPHA:141152
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Tachypnea, Hypothermia OMIM:616501
Fusariosis
Fasciitis, Sinusitis, Myositis, Abnormality of the spleen, Neutropenia, Brain abscess, Maculopapu... ORPHA:228119
Tracheobronchopathia Osteochondroplastica
Fever, Recurrent respiratory infections, Pneumonia, Bronchitis, Productive cough, Atelectasis, Wh... ORPHA:3348
Good Syndrome
Abnormal leukocyte morphology, Recurrent respiratory infections, Recurrent urinary tract infectio... ORPHA:169105
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Impaired lymphocyte transformation with phytohemagglutinin, Recurrent respiratory infections, Abs... ORPHA:35078
Familial Thyroid Dyshormonogenesis
Abnormal circulating thyroglobulin level, Neonatal hyperbilirubinemia, Hypothermia ORPHA:95716
Slc35A1-Cdg
Respiratory distress, Pneumonia, Giant platelets, Hypoxemia, Neutropenia, Abnormal platelet granu... ORPHA:238459
Autoimmune Lymphoproliferative Syndrome
Uveitis, Increased circulating IgG level, Colitis, Lymphocytosis, Increased B cell count, Decreas... ORPHA:3261
Immunodeficiency 23
Hemolytic anemia, Recurrent respiratory infections, Membranoproliferative glomerulonephritis, All... OMIM:615816
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Apnea, Hypothermia OMIM:614498
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities
Fever, Hypoventilation, Abnormality of temperature regulation, Hypothermia, Recurrent pneumonia OMIM:618493
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Respiratory failure requiring assisted ventilation, Elevated circulating creatine kinase concentr... ORPHA:90117
Ciliary Dyskinesia, Primary, 25
Recurrent respiratory infections, Neonatal respiratory distress, Chronic bronchitis, Productive c... OMIM:615482
Neonatal Inflammatory Skin And Bowel Disease
Recurrent bacterial skin infections, Chapped lip, Psoriasiform dermatitis, Pustule, Recurrent gas... ORPHA:294023
Menkes Disease
Decreased circulating ceruloplasmin concentration, Hypothermia OMIM:309400
Sudden Infant Death-Dysgenesis Of The Testes Syndrome
Abnormal pattern of respiration, Hypothermia ORPHA:168593
Sarcoidosis
Increased T cell count, Abnormal lung morphology, Uveitis, Tubulointerstitial nephritis, Leukopen... ORPHA:797
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Fever, Pancytopenia, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentra... OMIM:618398
Intermediate Uveitis
Anterior uveitis, Tubulointerstitial nephritis, Psoriasiform dermatitis, Optic neuritis ORPHA:279914
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Apnea, Hypothermia, Cardiorespiratory arrest, Stridor, Bronchospasm, Abnormal pattern of respiration OMIM:608800
Acute Interstitial Pneumonia
Fever, Peribronchovascular interstitial thickening, Nodular pattern on pulmonary HRCT, Crackles, ... ORPHA:79126
Carnitine-Acylcarnitine Translocase Deficiency
Sudden episodic apnea, Hypothermia, Elevated circulating acylcarnitine concentration, Respiratory... ORPHA:159
Muscular Hypertonia, Lethal
Respiratory distress, Pneumonia OMIM:254120
X-Linked Severe Congenital Neutropenia
Monocytopenia, Recurrent bacterial infections, Neutropenia ORPHA:86788
Acute Myelomonocytic Leukemia
Eosinophilia, Dyspnea, Leukocytosis, Anemia, Thrombocytopenia ORPHA:517
Ciliary Dyskinesia, Primary, 42
Pneumonia, Reduced forced vital capacity, Chronic pulmonary obstruction, Bronchiectasis, Respirat... OMIM:618695
Pulmonary Alveolar Proteinosis, Acquired
Brain abscess, Recurrent respiratory infections, Lung abscess, Pneumonia, Dyspnea, Intraalveolar ... OMIM:610910
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Elevated circulating alpha-fetoprotein concentration, Hypothermia, Splenomegaly, Hypoalbuminemia,... OMIM:251880
Ciliary Dyskinesia, Primary, 23
Neonatal respiratory distress, Chronic bronchitis, Productive cough, Recurrent pneumonia, Bronchi... OMIM:615451
Ciliary Dyskinesia, Primary, 21
Neonatal respiratory distress, Atelectasis, Recurrent pneumonia, Bronchiectasis, Decreased nasal ... OMIM:615294
Facioscapulohumeral Muscular Dystrophy 3, Digenic
Aspiration pneumonia OMIM:619477
Drug-Induced Lupus Erythematosus
Fever, Pericarditis, Elevated circulating creatine kinase concentration, Elevated circulating C-r... ORPHA:231111
Ciliary Dyskinesia, Primary, 33
Atelectasis, Recurrent pneumonia, Bronchiectasis, Chronic rhinitis, Cough, Recurrent otitis media... OMIM:616726
Hemochromatosis, Type 3
Increased circulating ferritin concentration, Elevated transferrin saturation, Arthritis, Increas... OMIM:604250
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Respiratory distress, Hypomethioninemia, Methylmalonic acidemia, Hypothermia, Megaloblastic anemi... ORPHA:79282
Leukocyte Adhesion Deficiency, Type Iii
Extramedullary hematopoiesis, Recurrent skin infections, Epistaxis, Splenomegaly, Leukocytosis, S... OMIM:612840
Diffuse Alveolar Hemorrhage
Fever, Respiratory failure requiring assisted ventilation, Dyspnea, Leukocytosis, Increased DLCO,... ORPHA:90060
Drug Reaction With Eosinophilia And Systemic Symptoms
Fever, Skin rash, Eosinophilia, Pustule, Myocarditis, Cough, Dyspnea, Hepatitis, Thyroiditis, Tub... ORPHA:139402
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Respiratory distress, Hypothermia ORPHA:226313
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Fever, Respiratory tract infection, Nonproductive cough, Dyspnea, Chronic pulmonary obstruction, ... ORPHA:79127
Ciliary Dyskinesia, Primary, 27
Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ... OMIM:615504
Rigid Spine Syndrome
Abnormality on pulmonary function testing, Pneumonia, Respiratory insufficiency ORPHA:97244
Hemophagocytic Syndrome Associated With An Infection
Fever, Pancytopenia, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentra... ORPHA:158048
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Glomerulonephritis, Eczema, Autoimmune thrombocytopenia, Eosinophilia, Thrombocytopenia, Increase... OMIM:304790
Hereditary Pulmonary Alveolar Proteinosis
Respiratory distress, Respiratory failure requiring assisted ventilation, Abnormal circulating pr... ORPHA:264675
Shwachman-Diamond Syndrome
Normocytic anemia, Sinusitis, Aplastic anemia, Transient neutropenia, Recurrent viral infections,... ORPHA:811
Acute Erythroid Leukemia
Pancytopenia, Erythroid hypoplasia, Leukopenia, Bone marrow hypocellularity, Anemia ORPHA:318
Graft Versus Host Disease
Fasciitis, Myositis, Maculopapular exanthema, Pneumonia, Inflammatory abnormality of the skin, Ga... ORPHA:39812
Prolidase Deficiency
Chronic lung disease, Eczema, Splenomegaly, Asthma, Recurrent pneumonia, Crusting erythematous de... OMIM:170100
Car T Cell Therapy-Associated Cytokine Release Syndrome
Fever, Increased inflammatory response, Increased circulating interleukin 6 concentration, Skin r... ORPHA:542323
Q Fever
Respiratory distress, Fever, Pericarditis, Osteomyelitis, Maculopapular exanthema, Pneumonia, Myo... ORPHA:781
Immunodeficiency 17
Recurrent respiratory infections, Autoimmune hemolytic anemia, Eczema, Decreased proportion of CD... OMIM:615607
Ciliary Dyskinesia, Primary, 14
Recurrent respiratory infections, Neonatal respiratory distress, Chronic bronchitis, Cough, Wheez... OMIM:613807
Bloom Syndrome
Bronchitis, Uveitis, Otitis media, Decreased circulating IgG level, Decreased proportion of CD4-p... ORPHA:125
Gamma-Heavy Chain Disease
Fever, Recurrent respiratory infections, Autoimmune hemolytic anemia, Skin rash, Autoimmune throm... ORPHA:100026
Immunodeficiency 56
Recurrent infection of the gastrointestinal tract, Recurrent respiratory infections, Cholangitis,... OMIM:615207
Brucellosis
Liver abscess, Bronchitis, Elevated circulating C-reactive protein concentration, Knee osteoarthr... ORPHA:1304
Pseudo-Torch Syndrome 3
Apnea, Lymphadenitis, Leukocytosis, Increased circulating ferritin concentration, Respiratory ins... OMIM:618886
Riddle Syndrome
Pneumonia, Bronchitis, Elevated circulating alpha-fetoprotein concentration, Recurrent viral infe... ORPHA:420741
Combined Oxidative Phosphorylation Deficiency 37
Hypothermia, Respiratory insufficiency, Respiratory failure, Hypoalbuminemia, Hyperalaninemia OMIM:618329
Beta-Thalassemia
Abnormality of temperature regulation, Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Hepa... ORPHA:848
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hyponatremia, Hypoproteinemia, Pancytopenia, Hypertriglyceridemia, Skin rash, Fever, Reduced natu... OMIM:603553
Eosinophilic Gastroenteritis
Eosinophilia, Allergic rhinitis, Elevated circulating C-reactive protein concentration, Leukocyto... ORPHA:2070
Bone Marrow Failure Syndrome 6
Persistence of hemoglobin F, Increased mean corpuscular volume, Bone marrow hypocellularity, Recu... OMIM:618849
Mounier-Kühn Syndrome
Recurrent respiratory infections, Recurrent bronchopulmonary infections, Pneumonia, Bronchitis ORPHA:3347
Ciliary Dyskinesia, Primary, 7
Recurrent pneumonia, Bronchiectasis, Decreased nasal nitric oxide, Restrictive ventilatory defect... OMIM:611884
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Abnormality of T cell physiology, Psoriasiform dermatitis, Hypocalcemia, Hypocalcemic seizures ORPHA:2237
Infantile Osteopetrosis With Neuroaxonal Dysplasia
Pneumonia ORPHA:85179
Ciliary Dyskinesia, Primary, 28
Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ... OMIM:615505
Severe Acute Respiratory Syndrome
Respiratory distress, Respiratory failure requiring assisted ventilation, Fever, Dyspnea, Acute i... ORPHA:140896
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Elevated circulating creatinine concentration, Gout, Recurrent infections, Hyperuricemia, Neutrop... OMIM:617056
Ciliary Dyskinesia, Primary, 3
Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ... OMIM:608644
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Bone marrow hypo... OMIM:619041
Anemia, Congenital Dyserythropoietic, Type Iv
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... OMIM:613673
Acute Radiation Syndrome
Fever, Inflammatory abnormality of the skin, Hyperkeratosis, Interstitial pneumonitis, Granulocyt... ORPHA:454831
Surfactant Metabolism Dysfunction, Pulmonary, 2
Respiratory distress, Reduced forced vital capacity, Tachypnea, Cough, Decreased DLCO, Bronchiect... OMIM:610913
Nephronophthisis-Like Nephropathy 2
Recurrent respiratory infections, Elevated circulating creatinine concentration, Bronchiectasis, ... OMIM:619468
Leukocyte Adhesion Deficiency
Sinusitis, Severe periodontitis, Recurrent staphylococcal infections, Sepsis, Conjunctivitis, Oti... ORPHA:2968
Ciliary Dyskinesia, Primary, 24
Neonatal respiratory distress, Chronic pulmonary obstruction, Bronchiectasis, Decreased nasal nit... OMIM:615481
Dehydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Neonatal hyperbilirubinemia, Anemia of inad... ORPHA:3202
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 1
Pancytopenia, Aplastic anemia, Crackles, Dyspnea, Usual interstitial pneumonia, Reticular pattern... OMIM:614742
Complement Factor B Deficiency
Recurrent bacterial infections, Peritonitis, Pneumonia, Recurrent meningococcal disease OMIM:615561
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Elevated circulating C-reactive protein concentration, Leukopenia, Hashimoto thyroiditis, Leukocy... OMIM:615688
Sarcoidosis, Susceptibility To, 2
Erythema nodosum, Splenomegaly, Dyspnea, Pneumothorax, Bronchiectasis, Uveitis, Abnormal pulmonar... OMIM:612387
Tbck-Related Intellectual Disability Syndrome
Eczema, Hypothermia, Asthma, Respiratory insufficiency, Abnormal circulating lipid concentration ORPHA:488632
Shigellosis
Hyponatremia, Fever, Pneumonia, Abscess, Myocarditis, Peritonitis, Leukocytosis, Thrombocytopenia... ORPHA:810
Infection-Related Hemolytic Uremic Syndrome
Hyponatremia, Hemolytic anemia, Brain abscess, Increased circulating interleukin 6 concentration,... ORPHA:544482
Neonatal Lupus Erythematosus
Hemolytic anemia, Pancytopenia, Parakeratosis, Skin rash, Aplastic anemia, Maculopapular exanthem... ORPHA:398124
Anemia, Hypochromic Microcytic, With Iron Overload 1
Decreased mean corpuscular volume, Increased serum iron, Elevated hepatic iron concentration, Ery... OMIM:206100
Relapsing Fever
Fever, Neutrophilia, Epistaxis, Elevated circulating C-reactive protein concentration, Leukocytos... ORPHA:91547
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Splenomegaly, Recurrent upper respiratory tract infections, Restrictive ventilatory defect, Inter... OMIM:620296
Ciliary Dyskinesia, Primary, 26
Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ... OMIM:615500
Ethylene Glycol Poisoning
Gastritis, Hypothermia, Tachypnea, Episodic respiratory distress, Hyperkalemia, Hypocalcemia, Abn... ORPHA:31826
Amoebiasis Due To Entamoeba Histolytica
Fever, Liver abscess, Acute colitis, Lung abscess, Dyspnea, Leukocytosis, Pleural empyema, Hypoal... ORPHA:67
Ciliary Dyskinesia, Primary, 32
Recurrent respiratory infections, Neonatal respiratory distress, Chronic pulmonary obstruction, B... OMIM:616481
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Fever, Brain abscess, Neutrophilia, Liver abscess, Elevated circulating C-reactive protein concen... ORPHA:54251
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Anisocytosis, Conjugated hyperbilirubinemia, Splenomegaly, Increased circulating ferritin concent... OMIM:616860
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
T lymphocytopenia, Infectious encephalitis, Autoimmune thrombocytopenia, Hepatitis, Bronchiectasi... ORPHA:391487
Primary Intestinal Lymphangiectasia
Decreased circulating IgG level, Hypoproteinemia, Decreased circulating antibody level, Decreased... ORPHA:90362
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Pulmonary embolism, Decreased circulating antibody level, Recurrent infections, Iron deficiency a... OMIM:226300
Hereditary Spherocytosis
Fever, Reticulocytosis, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Maculopapular... ORPHA:822
Hereditary Sensory And Autonomic Neuropathy Type 4
Fasciitis, Osteomyelitis, Abscess, Hypothermia, Recurrent Staphylococcus aureus infections, Recur... ORPHA:642
Aicardi-Goutieres Syndrome 7
Fever, Hemolytic anemia, Atrophic gastritis, Pancytopenia, Skin rash, Pneumonia, Chilblains, Thro... OMIM:615846
Genetic Transient Congenital Hypothyroidism
Increased circulating thyroglobulin level, Hypothermia ORPHA:226316
Sitosterolemia 1
Reticulocytosis, Hyperapobetalipoproteinemia, Thrombocytopenia, Splenomegaly, Giant platelets, El... OMIM:210250
Anemia, Hypochromic Microcytic, With Iron Overload 2
Splenomegaly, Increased circulating ferritin concentration, Elevated transferrin saturation, Decr... OMIM:615234
Adult-Onset Autosomal Dominant Leukodystrophy
Recurrent urinary tract infections, Hypothermia, Aspiration pneumonia, Temperature instability ORPHA:99027
Mitochondrial Complex I Deficiency, Nuclear Type 33
Apnea, Bronchiectasis, Respiratory insufficiency, Hyperammonemia, Aspiration pneumonia, Neutropenia OMIM:618253
Postinfectious Vasculitis
Abnormal circulating protein concentration, Viral hepatitis, Inflammatory abnormality of the skin... ORPHA:48435
Ciliary Dyskinesia, Primary, 5
Recurrent respiratory infections, Neonatal respiratory distress, Chronic bronchitis, Recurrent pn... OMIM:608647
Infant Acute Respiratory Distress Syndrome
Pneumonia, Respiratory tract infection, Atelectasis, Nasal flaring, Tachypnea, Sepsis, Hypoxemia,... ORPHA:70587
Chédiak-Higashi Syndrome
Recurrent staphylococcal infections, Vacuolated lymphocytes, Periodontitis, Neutropenia, Abnormal... ORPHA:167
X-Linked Centronuclear Myopathy
Respiratory distress, Respiratory failure requiring assisted ventilation, Recurrent respiratory i... ORPHA:596
Coccidioidomycosis
Respiratory distress, Abnormality of the spleen, Increased circulating IgG level, Cough, Morbilli... ORPHA:228123
Hemochromatosis, Type 5
Increased circulating ferritin concentration, Elevated transferrin saturation, Abnormal circulati... OMIM:615517
Acute Monoblastic/Monocytic Leukemia
Fever, Acute monocytic leukemia, Leukocytosis, Lymphocytosis, Hypochromic anemia, Anemia, Exertio... ORPHA:514
Hypothyroidism Due To Tsh Receptor Mutations
Increased circulating thyroglobulin level, Neonatal hyperbilirubinemia, Hypothermia ORPHA:90673
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Eczema, Elevated circulating creatine kinase concentration, Lymphadenitis, Leukocytosis, Splenome... OMIM:615895
Sepsis In Premature Infants
Neonatal sepsis, Fever, Increased circulating interleukin 6 concentration, Abnormal mucociliary c... ORPHA:90051
Ciliary Dyskinesia, Primary, 1
Pneumonia, Asplenia, Atelectasis, Bronchiectasis, Immotile cilia, Chronic rhinitis, Chronic otiti... OMIM:244400
Listeriosis
Respiratory distress, Liver abscess, Abnormal cellular immune system morphology, Sepsis, Granulom... ORPHA:533
Immunodeficiency 31C
Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Autoimmune hemolytic ane... OMIM:614162
Fanconi Anemia, Complementation Group V
Elevated circulating alpha-fetoprotein concentration, Thrombocytopenia, Bone marrow hypocellulari... OMIM:617243
Ciliary Dyskinesia, Primary, 15
Recurrent respiratory infections, Neonatal respiratory distress, Chronic bronchitis, Wheezing, Re... OMIM:613808
Letterer-Siwe Disease
Fever, Seborrheic dermatitis, Thrombocytopenia, Dyspnea, Hepatosplenomegaly, Neutropenia, Stomati... OMIM:246400
Anemia, Sideroblastic, 5
Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia OMIM:619523
Rat-Bite Fever
Fever, Pericarditis, Maculopapular exanthema, Skin rash, Erythema nodosum, Lymphadenitis, Pustule... ORPHA:31205
Icf Syndrome
Recurrent respiratory infections, Abnormality of neutrophils, Decreased circulating antibody leve... ORPHA:2268
Mitochondrial Dna-Associated Leigh Syndrome
Fever, Apnea, Hypothermia, Dyspnea, Low plasma citrulline, Episodic respiratory distress, Hyperal... ORPHA:255210
Dohle Bodies And Leukemia
Acute myeloid leukemia, Leukocyte inclusion bodies, Recurrent fever, Anemia OMIM:223350
Bazex Syndrome
Parakeratosis, Pruritus, Hyperkeratosis, Palmoplantar keratoderma, Lung adenocarcinoma, Anemia ORPHA:166113
Immunodeficiency 77
Recurrent tonsillitis, Chronic pulmonary obstruction, Bronchiectasis, Cutaneous abscess OMIM:619223
Bone Marrow Failure Syndrome 5
Pure red cell aplasia, Erythroid hypoplasia, Decreased circulating antibody level, Pulmonary fibr... OMIM:618165
Limb-Mammary Syndrome
Psoriasiform dermatitis, Chronic irritative conjunctivitis, Blepharitis ORPHA:69085
Combined Oxidative Phosphorylation Deficiency 51
Neonatal respiratory distress, Respiratory failure, Aspiration pneumonia OMIM:619057
Microsporidiosis
Myositis, Sinusitis, Cholangitis, Bronchitis, Lymphadenitis, Abnormality of the spleen, Sepsis, N... ORPHA:2552
Mirage Syndrome
Hyponatremia, Recurrent urinary tract infections, Thrombocytopenia, Hyperkalemia, Sepsis, Leukope... OMIM:617053
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Respiratory distress, Recurrent respiratory infections, Methylmalonic acidemia, Apnea, Hypothermia ORPHA:17
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Respiratory insufficiency due to muscle weakness, Respiratory failure, Recurrent aspiration pneum... ORPHA:2590
Isolated Thyroid-Stimulating Hormone Deficiency
Hypercholesterolemia, Abnormal circulating thyroglobulin level, Neonatal hyperbilirubinemia, Hypo... ORPHA:90674
Bronchogenic Cyst
Fever, Pulmonary cyst, Pneumonia, Abnormal pleura morphology, Dyspnea, Atelectasis, Cough, Bronch... ORPHA:2357
Nocardiosis
Respiratory distress, Liver abscess, Lymphadenitis, Nonproductive cough, Sepsis, Conjunctivitis, ... ORPHA:31204
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Hyponatremia, Hypoventilation, Fever, Central hypoventilation, Hypothermia, Asthma, Recurrent upp... ORPHA:293987
Ciliary Dyskinesia, Primary, 35
Neonatal respiratory distress, Productive cough, Recurrent pneumonia, Bronchiectasis, Decreased n... OMIM:617092
Primary Ciliary Dyskinesia
Recurrent sinopulmonary infections, Neonatal respiratory distress, Peribronchovascular interstiti... ORPHA:244
Thrombocytopenia 5
Epistaxis, B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia... OMIM:616216
Mucoepithelial Dysplasia, Hereditary
Eosinophilia, Pneumonia, Recurrent pneumonia, Chronic mucocutaneous candidiasis, Keratoconjunctiv... OMIM:158310
Wiskott-Aldrich Syndrome
Sinusitis, Abnormal eosinophil morphology, Microcytic anemia, Sepsis, Inflammation of the large i... ORPHA:906
Lymphoid Interstitial Pneumonia
Fever, Multiple pulmonary cysts, Skin rash, Eczema, Crackles, Respiratory tract infection, Dyspne... ORPHA:79128
Ataxia-Telangiectasia
Decreased circulating IgG level, Sinusitis, Elevated circulating alpha-fetoprotein concentration,... OMIM:208900
Alexander Disease
Infectious encephalitis, Hypothermia, Respiratory insufficiency ORPHA:58
Aromatic L-Amino Acid Decarboxylase Deficiency
Intermittent hypothermia, Temperature instability, Apnea, Cardiorespiratory arrest OMIM:608643
Orthostatic Hypotension 1
Hypomagnesemia, Intermittent hypothermia, Increased blood urea nitrogen OMIM:223360
Hemorrhagic Fever-Renal Syndrome
Respiratory distress, Fever, Increased circulating interleukin 6 concentration, Glomerulonephriti... ORPHA:340
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Normocytic anemia, Skin rash, Pneumonia, Elevated circulating creatinine concentration, Sepsis, N... ORPHA:247691
Copper Deficiency, Familial Benign
Decreased circulating copper concentration, Anemia, Seborrheic dermatitis OMIM:121270
Familial Nasal Acilia
Respiratory distress, Dyspnea, Atelectasis, Recurrent upper respiratory tract infections, Bronchi... ORPHA:922
Alpha-Mannosidosis, Adult Form
Pancytopenia, Pneumonia, Recurrent infections, Hepatosplenomegaly, Recurrent gastroenteritis ORPHA:309288
Idiopathic Aplastic Anemia
Pancytopenia, Epistaxis, Thrombocytopenia, Reticulocytopenia, Recurrent infections, Bone marrow h... ORPHA:88
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Eczema, Thrombocytopenia, Recurrent upper respiratory tract infections, Reticulocytopenia, Leukop... ORPHA:508542
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked
Increased circulating interleukin 8 concentration, Recurrent pneumonia, Bronchiectasis, Hyperkera... OMIM:301220
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Skin rash, Elevated circulating C-reactive protein concentration, Recurrent pneumonia, Decreased ... OMIM:617718
Surfactant Metabolism Dysfunction, Pulmonary, 3
Respiratory distress, Apnea, Crazy paving pattern, Nodular pattern on pulmonary HRCT, Tachypnea, ... OMIM:610921
Spondyloenchondrodysplasia With Immune Dysregulation
Recurrent respiratory infections, Pneumonia, Autoimmune thrombocytopenia, Neutropenia, T lymphocy... OMIM:607944
Spondyloenchondrodysplasia
Pancytopenia, Autoimmune hemolytic anemia, Skin rash, Pneumonia, Autoimmune thrombocytopenia, Hep... ORPHA:1855
Insulin-Resistance Syndrome Type B
Abnormal circulating lipid concentration, Skin rash, Pneumonia, Increased circulating IgA level, ... ORPHA:2298
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Hypoventilation, Apnea, Decreased serum iron, Breathing dysregulation, Hypothermia, Aspiration pn... ORPHA:438213
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Crackles, Atelectasis, Leukocytosis, Dyspnea, Asthma, Bronchiectasis, Wheezing, Abnormal pulmonar... OMIM:620233
Menkes Disease
Osteomyelitis, Sepsis, Hypothermia ORPHA:565
Hypothyroidism, Congenital, Nongoitrous, 2
Stridor, Increased circulating thyroglobulin level, Hypothermia, Hyperbilirubinemia OMIM:218700
Congenital Dyserythropoietic Anemia Type Iii
Anisocytosis, Abnormal erythrocyte morphology, Increased mean corpuscular volume, Increased serum... ORPHA:98870
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Restrictive ventilatory defect, Pneumonia, Elevated circulating creatine kinase concentration OMIM:253700
Cryptococcosis
Respiratory distress, Fever, Osteomyelitis, Lymphoid leukemia, Pneumonia, Nodular pattern on pulm... ORPHA:1546
Juvenile Neuronal Ceroid Lipofuscinosis
Non-periodic recurrent fever, Apnea, Episodic tachypnea, Aspiration pneumonia ORPHA:79264
Dyskeratosis Congenita, Autosomal Dominant 1
Aplastic anemia, Thrombocytopenia, Dyspnea, Leukopenia, Interstitial pneumonitis, Increased mean ... OMIM:127550
Nijmegen Breakage Syndrome
Autoimmune hemolytic anemia, Sinusitis, Recurrent urinary tract infections, Recurrent bronchitis,... OMIM:251260
Meconium Aspiration Syndrome
Respiratory distress, Neonatal asphyxia, Wheezing, Atelectasis, Pneumothorax, Hypoxemia, Aspirati... ORPHA:70588
Ciliary Dyskinesia, Primary, 43
Neonatal respiratory distress, Productive cough, Recurrent upper respiratory tract infections, Br... OMIM:618699
Zygomycosis
Fasciitis, Sinusitis, Acute infectious pneumonia, Colitis, Cough, Neutropenia, Nephritis, Infecti... ORPHA:73263
Sporadic Creutzfeldt-Jakob Disease
Respiratory failure requiring assisted ventilation, Recurrent aspiration pneumonia, Sepsis, Recur... ORPHA:204
Sarcoidosis, Susceptibility To, 1
Fever, Pancytopenia, Abnormality of T cell physiology, Iridocyclitis, Splenomegaly, Dyspnea, Bron... OMIM:181000
Occipital Horn Syndrome
Hypothermia, Recurrent urinary tract infections, Hepatitis, Esophagitis ORPHA:198
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Agammaglobulinemia, Recurrent respiratory infections, Lymphopenia, Anemia ORPHA:935
Congenital Tracheomalacia
Apnea, Decreased peak expiratory flow, Cough, Emphysema, Neonatal respiratory distress, Intercost... ORPHA:95430
Fanconi Anemia, Complementation Group F
Pneumonia, Anemia, Leukopenia, Bone marrow hypocellularity, Thrombocytopenia OMIM:603467
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Abnormal circulating thyroglobulin level, Hypothermia ORPHA:226307
Mohr-Tranebjaerg Syndrome
Agammaglobulinemia, Aspiration pneumonia ORPHA:52368
Kikuchi-Fujimoto Disease
Skin rash, Elevated circulating C-reactive protein concentration, Pruritus, Myocarditis, Pustule,... ORPHA:50918
Pulmonary Alveolar Microlithiasis
Bronchitis, Nonproductive cough, Tachypnea, Increased circulating surfactant protein level, Oxyge... ORPHA:60025
Severe Generalized Junctional Epidermolysis Bullosa
Respiratory distress, Recurrent urinary tract infections, Recurrent skin infections, Pneumonia, D... ORPHA:79404
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Respiratory distress, Anterior uveitis, Inflammatory abnormality of the skin, Respiratory failure... ORPHA:95455
Igg4-Related Kidney Disease
Elevated circulating C-reactive protein concentration, Lymphadenitis, Abnormal lung morphology, D... ORPHA:449395
Gaucher Disease, Type Ii
Apnea, Splenomegaly, Anemia, Stridor, Cough, Bronchiolitis, Recurrent aspiration pneumonia, Throm... OMIM:230900
Amoebiasis Due To Free-Living Amoebae
Fever, Unusual skin infection, Sinusitis, Pneumonia, Pustule, Respiratory tract infection, Granul... ORPHA:68
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency
Neonatal respiratory distress, Spontaneous neonatal pneumothorax, Tachypnea, Intraalveolar phosph... ORPHA:217563
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency
Abnormal circulating carnitine concentration, Aspiration pneumonia, Decreased circulating carniti... ORPHA:431361
Congenital Multicore Myopathy With External Ophthalmoplegia
Abnormal respiratory system physiology, Recurrent respiratory infections, Respiratory failure, Pn... ORPHA:98905
Hennekam-Beemer Syndrome
Pruritus, Pneumonia, Respiratory insufficiency, Mastocytosis ORPHA:2135
Liver Disease, Severe Congenital
Chronic gastritis, Sepsis, Leukopenia, Lymphocytosis, Hypocalcemia, Elevated hepatic iron concent... OMIM:619991
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Hyponatremia, Fever, Neonatal sepsis, Pneumonia, Hyperkalemia ORPHA:90790
Cleft Velum
Recurrent otitis media, Aspiration pneumonia ORPHA:99772
Cholera
Hyponatremia, Fever, Tachypnea, Abnormal blood ion concentration, Hypokalemia, Hypocalcemia, Aspi... ORPHA:173
Bronchial Neuroendocrine Tumor
Pneumonia, Dyspnea, Nonproductive cough, Asthma, Wheezing, Abnormal pulmonary interstitial morpho... ORPHA:97287
Infantile Neuroaxonal Dystrophy
Temperature instability, Apneic episodes in infancy, Aspiration pneumonia ORPHA:35069
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3
Pneumonia OMIM:608033
Roifman-Chitayat Syndrome
Arthritis, Pneumonia OMIM:613328
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Respiratory distress, Hypoventilation, Apnea, Recurrent pneumonia, Aspiration pneumonia ORPHA:314655
Hereditary Bullous Dystrophy, Macular Type
Pneumonia ORPHA:1867
Gm1 Gangliosidosis
Recurrent respiratory infections, Splenomegaly, Hepatosplenomegaly, Aspiration pneumonia, Infecti... ORPHA:354
Degcags Syndrome
Fever, Pancytopenia, Chronic lung disease, Recurrent urinary tract infections, Pneumonia, Congeni... OMIM:619488
Classic Pantothenate Kinase-Associated Neurodegeneration
Aspiration pneumonia, Cough ORPHA:216866
Mercury Poisoning
Respiratory distress, Dyspnea, Interstitial pneumonitis, Hypokalemia, Respiratory failure ORPHA:330021
Plague
Respiratory distress, Chapped lip, Fever, Skin rash, Erythema nodosum, Lymphadenitis, Splenomegal... ORPHA:707
Alpha-Mannosidosis, Infantile Form
Recurrent urinary tract infections, Pancytopenia, Pneumonia, Hepatosplenomegaly, Recurrent infect... ORPHA:309282
Proximal Spinal Muscular Atrophy
Hypoventilation, Neonatal respiratory distress, Recurrent infections due to aspiration, Respirato... ORPHA:70
Lissencephaly Due To Lis1 Mutation
Neonatal hyperbilirubinemia, Aspiration pneumonia ORPHA:95232
Atrial Septal Defect, Coronary Sinus Type
Pneumonia, Increased pulmonary vascular resistance, Dyspnea, Anomalous pulmonary venous return, R... ORPHA:99104
Chops Syndrome
Splenomegaly, Anomalous pulmonary venous return, Aspiration pneumonia, Tracheomalacia, Chronic lu... OMIM:616368
Tay-Sachs Disease
Increased serum beta-hexosaminidase, Aspiration pneumonia, Hepatosplenomegaly ORPHA:845
Atrial Septal Defect, Ostium Secundum Type
Orthopnea, Pneumonia, Breathing dysregulation, Increased pulmonary vascular resistance, Dyspnea, ... ORPHA:99103
Mucopolysaccharidosis, Type Vi
Pneumonia, Splenomegaly, Recurrent upper respiratory tract infections, Restrictive ventilatory de... OMIM:253200
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Splenomegaly, Thrombocytopenia, Aspiration pneumonia, Seborrheic dermatitis OMIM:301072
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Recurrent respiratory infections, Tracheobronchial leiomyomatosis, Keratitis, Dyspnea, Aspiration... ORPHA:1018
Cornelia De Lange Syndrome 1
Thrombocytopenia, Pneumonia, Otitis media OMIM:122470
Bickerstaff Brainstem Encephalitis
Respiratory failure requiring assisted ventilation, Pneumonia, Hypercapnia, Respiratory tract inf... ORPHA:79138
Mucopolysaccharidosis Type 3
Recurrent sinopulmonary infections, Respiratory tract infection, Splenomegaly, Recurrent tonsilli... ORPHA:581
X-Linked Dystonia-Parkinsonism
Aspiration pneumonia ORPHA:53351
Geleophysic Dysplasia 3
Dyspnea, Respiratory failure, Pneumonia OMIM:617809
Gm1 Gangliosidosis Type 1
Aspiration pneumonia, Hepatosplenomegaly ORPHA:79255
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Aspiration pneumonia OMIM:619167
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction
Hypoventilation, Apnea, Hypopnea, Restrictive ventilatory defect, Aspiration pneumonia, Temperatu... OMIM:619482
Marshall-Smith Syndrome
Apnea, Recurrent upper respiratory tract infections, Stridor, Aspiration pneumonia, Pulmonary art... OMIM:602535
Combined Oxidative Phosphorylation Deficiency 25
Aspiration pneumonia OMIM:616430
Congenital Fiber-Type Disproportion Myopathy
Recurrent respiratory infections, Hypercapnia, Respiratory insufficiency due to muscle weakness, ... ORPHA:2020
Nk-Cell Enteropathy
Increased T cell count ORPHA:263665
Niemann-Pick Disease Type C
Bone-marrow foam cells, Splenomegaly, Abnormal lung morphology, Respiratory insufficiency, Hepato... ORPHA:646
Wiedemann-Rautenstrauch Syndrome
Recurrent respiratory infections, Hypertriglyceridemia, Pneumonia, Hypoplasia of the thymus, Thin... OMIM:264090
Coffin-Siris Syndrome
Recurrent upper respiratory tract infections, Aspiration pneumonia, Recurrent infections ORPHA:1465
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Recurrent respiratory infections, Recurrent urinary tract infections, Pneumonia, Asthma, Otitis m... ORPHA:353281
Semilobar Holoprosencephaly
Central apnea, Aspiration pneumonia, Temperature instability, Abnormal pattern of respiration, Ch... ORPHA:220386
Alobar Holoprosencephaly
Central apnea, Aspiration pneumonia, Temperature instability, Abnormal pattern of respiration, Ch... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Central apnea, Aspiration pneumonia, Temperature instability, Abnormal pattern of respiration, Ch... ORPHA:93926
Lobar Holoprosencephaly
Central apnea, Aspiration pneumonia, Temperature instability, Abnormal pattern of respiration, Ch... ORPHA:93924
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Asthma, Aspiration pneumonia, Tracheomalacia, Pulmonary arterial hypertension, Chronic lung disease ORPHA:444077
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Recurrent respiratory infections, Recurrent urinary tract infections, Pneumonia, Asthma, Otitis m... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Recurrent respiratory infections, Recurrent urinary tract infections, Pneumonia, Asthma, Otitis m... ORPHA:353277
Kabuki Syndrome 1
Hemolytic anemia, Autoimmune thrombocytopenia, Recurrent infections, Recurrent otitis media, Recu... OMIM:147920
Doors Syndrome
Respiratory distress, Thrombocytosis, Aspiration pneumonia ORPHA:79500
Pmm2-Cdg
Respiratory distress, Fever, Pericarditis, Reduced thyroxin-binding globulin, Hypoalbuminemia, As... ORPHA:79318
Yunis-Varon Syndrome
Pulmonary arterial hypertension, Aspiration pneumonia, Palmoplantar hyperkeratosis OMIM:216340

Histopathology

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

There is no histopathology data for N4bp1

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 N4bp1.

No publications found that use IMPC mice or data for N4bp1.

Order Mouse and ES Cells

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

MGI Allele Allele Type Produced
N4bp1tm1e(KOMP)Mbp Targeted, non-conditional allele ES Cells
N4bp1tm1a(KOMP)Mbp KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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