Gene Summary

Name:
neutrophil cytosolic factor 2
Synonyms:
NADPH oxidase subunit (67kDa),  Ncf-2,  NOXA2,  p67phox

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
decreased NK T cell number Ncf2tm1a(EUCOMM)Wtsi HOM Early adult 0.00
obsolete decreased CD8-positive, alpha beta T cell number Ncf2tm1a(EUCOMM)Wtsi HOM Early adult 0.00
decreased regulatory T cell number Ncf2tm1a(EUCOMM)Wtsi HOM Early adult 0.00
decreased NK cell number Ncf2tm1a(EUCOMM)Wtsi HOM Early adult 0.00
increased mean platelet volume Ncf2tm1a(EUCOMM)Wtsi HOM Early adult 2.60×10-05
decreased alpha-beta T cell number Ncf2tm1a(EUCOMM)Wtsi HOM Early adult 0.00
decreased T cell number Ncf2tm1a(EUCOMM)Wtsi HOM Early adult 0.00
decreased circulating thyroxine level Ncf2tm1a(EUCOMM)Wtsi HOM   Early adult 1.63×10-05
increased circulating iron level Ncf2tm1a(EUCOMM)Wtsi HOM Early adult 5.02×10-05
decreased leukocyte cell number Ncf2tm1a(EUCOMM)Wtsi HOM   Early adult 1.43×10-05
increased KLRG1-positive NK cell number Ncf2tm1a(EUCOMM)Wtsi HOM Early adult 0.00
decreased grip strength Ncf2tm1a(EUCOMM)Wtsi HOM Early adult 6.90×10-06
obsolete decreased CD4-positive, alpha beta T cell number Ncf2tm1a(EUCOMM)Wtsi HOM Early adult 0.00

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lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Dorso Ventral

15 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

15 Images

X-ray

XRay Images Skull Lateral Orientation

15 Images

X-ray

XRay Images Forepaw

15 Images

X-ray

XRay Images Whole Body Lateral Orientation

15 Images

Eye Morphology

Images Slit Lamp

2 Images

Legacy Phenotype Associated Images

Human diseases caused by Ncf2 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.

The table below shows human diseases associated to Ncf2 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Recurrent E. coli infections, Eczematoid dermatitis, Lymphadenitis, Discoid lupus rash, Recurrent... OMIM:233710
Chronic Granulomatous Disease
Sinusitis, Sepsis, Eczema, Chronic pulmonary obstruction, Splenomegaly, Meningitis, Otitis media,... ORPHA:379

The table below shows human diseases predicted to be associated to Ncf2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Cd8 Deficiency, Familial
Recurrent bacterial infections, Bronchiectasis, Recurrent viral infections, Absence of CD8-positi... OMIM:608957
Immunodeficiency 15A
Recurrent otitis media, Acne inversa, Chronic mucocutaneous candidiasis, Decreased proportion of ... OMIM:618204
Combined Immunodeficiency, X-Linked
Sinusitis, Pneumonia, Recurrent bronchitis, Otitis media, Decreased proportion of CD4-positive he... OMIM:312863
Immunodeficiency With Defective T-Cell Response To Interleukin 1
Recurrent otitis media, Recurrent pneumonia OMIM:243110
Immunodeficiency 18
Recurrent otitis media, Decreased proportion of CD3-positive T cells, Lymphopenia, Recurrent resp... OMIM:615615
Immunodeficiency 79
Recurrent upper respiratory tract infections, Recurrent otitis media, Decreased proportion of CD4... OMIM:619238
Immunodeficiency 17
Eczema, Recurrent otitis media, Decreased proportion of CD8-positive T cells, Recurrent respirato... OMIM:615607
Immunodeficiency 11
Recurrent respiratory infections, Pneumonia OMIM:615206
Immunodeficiency 51
Eczema, Folliculitis, Pustule, Chronic furunculosis, Recurrent bronchitis, Pneumonia, Chronic ora... OMIM:613953
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
Atopic dermatitis, Pneumonia, Abnormally low T cell receptor excision circle level, Recurrent upp... OMIM:618806
Wiskott-Aldrich Syndrome 2
Thrombocytopenia, Eczema, Recurrent infections, Decreased proportion of CD8-positive T cells OMIM:614493
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Autoimmunity, Impaired lymphocyte transformation with phytohemagglutinin, Minimal change glomerul... OMIM:617006
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
T lymphocytopenia ORPHA:169095
Immunodeficiency 32B
Sinusitis, Pneumonia, Bronchiectasis, Recurrent infections, Splenomegaly, Recurrent respiratory i... OMIM:226990
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive
Eczema, Recurrent opportunistic infections, Pneumonia, Failure to thrive secondary to recurrent i... OMIM:608971
Immunodeficiency 13
B lymphocytopenia, Bronchiectasis, Bronchiolitis obliterans organizing pneumonia, Recurrent otiti... OMIM:615518
Immunodeficiency 8
Recurrent respiratory infections, Lymphopenia OMIM:615401
Immunodeficiency 40
Lymphopenia OMIM:616433
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
B lymphocytopenia, Recurrent opportunistic infections, Pneumonia, Failure to thrive secondary to ... OMIM:601457
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased B cell count, Hepatomegaly, Autoimmunity, Decreased proportion of class-switched memory... OMIM:615559
Platelet Glycoprotein Iv Deficiency
Thrombocytopenia, Abnormality of the endocrine system, Giant platelets OMIM:608404
Immunodeficiency 24
Severe varicella zoster infection, Recurrent viral infections, Persistent viremia, Respiratory tr... OMIM:615897
Acquired Partial Lipodystrophy
Autoimmunity, Hepatic steatosis, Microscopic hematuria, Lymphocytosis, Glomerulopathy, Proteinuria ORPHA:79087
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
Recurrent bacterial infections, T lymphocytopenia, Recurrent candida infections OMIM:242870
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
T lymphocytopenia, Hypocalcemia DECIPHER:16
Immunodeficiency 11B With Atopic Dermatitis
Atopic dermatitis, Eosinophilia, Asthma, Pneumonia OMIM:617638
Agammaglobulinemia 1, Autosomal Recessive
Recurrent bacterial infections, B lymphocytopenia, Sinusitis, Neutropenia, Pneumonia, Bronchiecta... OMIM:601495
Immunodeficiency 48
Eczematoid dermatitis, Recurrent candida infections, Pneumonia, Splenomegaly OMIM:269840
Bleeding Disorder, Platelet-Type, 24
Impaired epinephrine-induced platelet aggregation, Increased mean platelet volume, Impaired arach... OMIM:619271
Lymphoproliferative Syndrome 3
Reduced natural killer cell count, Hepatosplenomegaly OMIM:618261
Bleeding Disorder, Platelet-Type, 16
Anemia, Giant platelets, Thrombocytopenia, Macrothrombocytopenia, Platelet anisocytosis, Impaired... OMIM:187800
Pulmonary Nodular Lymphoid Hyperplasia
Plasmacytosis, Autoimmune antibody positivity, Mediastinal lymphadenopathy, Follicular hyperplasia ORPHA:60026
Autoimmune Lymphoproliferative Syndrome, Type Iia
Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, Neutropenia in ... OMIM:603909
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Pneumonia, Lymphopenia, Plasmacytosis, Glomerulonephritis, Autoimmune hemolytic anemia OMIM:247800
Agammaglobulinemia 2, Autosomal Recessive
Recurrent bacterial infections, Meningitis, Recurrent respiratory infections, Recurrent pneumonia OMIM:613500
Combined Cellular And Humoral Immune Defects With Granulomas
B lymphocytopenia, Recurrent respiratory infections, T lymphocytopenia OMIM:233650
Ciliary Dyskinesia, Primary, 44
Neonatal respiratory distress, Reduced forced expiratory volume in one second, Bronchiectasis, Ot... OMIM:618781
Mucus Inspissation Of Respiratory Tract
Chronic pulmonary obstruction, Bronchiectasis, Chronic sinusitis, Recurrent respiratory infection... OMIM:253240
Bleeding Disorder, Platelet-Type, 15
Thrombocytopenia, Increased mean platelet volume, Platelet anisocytosis OMIM:615193
Macrothrombocytopenia and progressive sensorineural deafness
Thrombocytopenia, Macrothrombocytopenia, Giant platelets OMIM:600208
Complement Factor B Deficiency
Recurrent bacterial infections, Pneumonia, Peritonitis, Meningitis, Recurrent meningococcal disease OMIM:615561
Immunodeficiency 20
Reduced natural killer cell count OMIM:615707
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency
Coccidioidomycosis, Severe toxoplasmosis, BCGosis, Pneumonia, Lymphadenitis, Salmonella osteomyel... ORPHA:319552
Combined Immunodeficiency Due To Dock8 Deficiency
Atopic dermatitis, B lymphocytopenia, Pneumonia, Chronic otitis media, Recurrent viral infections... ORPHA:217390
Ciliary Dyskinesia, Primary, 21
Neonatal respiratory distress, Ciliary dyskinesia, Bronchiectasis, Recurrent otitis media, Chroni... OMIM:615294
Combined Immunodeficiency Due To Zap70 Deficiency
Recurrent opportunistic infections, Stomatitis, Recurrent upper and lower respiratory tract infec... ORPHA:911
Sebastian syndrome
Thrombocytopenia, Neutrophil inclusion bodies, Giant platelets, Leukocyte inclusion bodies OMIM:605249
Immunodeficiency 52
Bronchiectasis, Coombs-positive hemolytic anemia, Increased proportion of gamma-delta T cells, Re... OMIM:617514
Selective Igm Deficiency
Sepsis, Severe varicella zoster infection, Non-infectious meningitis, Recurrent herpes, Neutropen... ORPHA:331235
Mounier-Kühn Syndrome
Recurrent bronchopulmonary infections, Recurrent respiratory infections, Pneumonia, Bronchitis ORPHA:3347
B-Cell Expansion With Nfkb And T-Cell Anergy
Increased B cell count, Splenomegaly OMIM:616452
Tracheopathia Osteoplastica
Wheezing, Dyspnea, Recurrent pneumonia, Cough OMIM:189961
Macrothrombocytopenia, Autosomal Dominant, Tubb1-Related
Macrothrombocytopenia OMIM:613112
Ciliary Dyskinesia, Primary, 9
Ciliary dyskinesia, Pneumonia, Bronchiectasis, Chronic rhinitis, Recurrent otitis media, Cough, R... OMIM:612444
Giant platelet syndrome with thrombocytopenia
Thrombocytopenia, Giant platelets OMIM:137560
Immunodeficiency 19
Lymphopenia OMIM:615617
Immunodeficiency 72 With Autoinflammation
Increased B cell count, Hepatosplenomegaly, Increased proportion of memory T cells, Lymphadenopathy OMIM:618982
Young Syndrome
Recurrent sinopulmonary infections, Bronchiectasis, Recurrent bronchitis OMIM:279000
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
T lymphocytopenia, Decreased helper T cell proportion OMIM:601705
Ciliary Dyskinesia, Primary, 27
Sinusitis, Chronic bronchitis, Ciliary dyskinesia, Bronchiectasis, Rhinitis, Respiratory insuffic... OMIM:615504
Myelolymphatic Insufficiency
Recurrent bacterial infections, Recurrent viral infections, Hyposegmentation of neutrophil nuclei... OMIM:310350
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Autoimmunity, Lymphadenopathy, Hepatitis, Systemic lupus erythematosus, Splenomegaly, Autoimmune ... ORPHA:444463
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Chronic active Epstein-Barr virus infection, Severe varicella zoster infection, Recurrent bronchi... OMIM:300853
Agammaglobulinemia 7, Autosomal Recessive
Recurrent respiratory infections, Neutropenia, Recurrent infections OMIM:615214
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Acute lymphoblastic leukemia, Neutropenia, Anemia, Hyperbilirubinemia, Splenomegaly, Acute myeloi... ORPHA:158057
Autoinflammation With Infantile Enterocolitis
Anemia, Splenomegaly, Reduced natural killer cell count, Increased circulating ferritin concentra... OMIM:616050
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Neutropenia, Erythroderma, Recurrent viral infections, Recurrent infections, Recurrent lower resp... ORPHA:169154
Immunodeficiency 57 With Autoinflammation
B lymphocytopenia, Reduced natural killer cell count, T lymphocytopenia, Perianal abscess OMIM:618108
Ciliary Dyskinesia, Primary, 33
Ciliary dyskinesia, Recurrent bronchitis, Bronchiectasis, Chronic rhinitis, Recurrent otitis medi... OMIM:616726
Nephrotic Syndrome, Type 7
Hemolytic anemia, Nephrotic syndrome, Hemolytic-uremic syndrome, Stage 5 chronic kidney disease, ... OMIM:615008
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Thrombocytopenia, Neutrophil inclusion bodies, Giant platelets, Leukocyte inclusion bodies OMIM:155100
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
B lymphocytopenia, Impaired lymphocyte transformation with phytohemagglutinin, Hypoplasia of the ... OMIM:619313
Ciliary Dyskinesia, Primary, 42
Chronic pulmonary obstruction, Respiratory insufficiency, Pneumonia, Bronchiectasis, Chronic rhin... OMIM:618695
Cernunnos-Xlf Deficiency
B lymphocytopenia, Anemia, Lymphopenia, Thrombocytopenia, T lymphocytopenia ORPHA:169079
Immunodeficiency 75
Decreased proportion of class-switched memory B cells, Bronchiectasis, Hepatosplenomegaly, Recurr... OMIM:619126
Bronchiectasis With Or Without Elevated Sweat Chloride 3
Chronic bronchitis, Bronchiectasis OMIM:613071
Bronchiectasis With Or Without Elevated Sweat Chloride 2
Chronic bronchitis, Bronchiectasis OMIM:613021
Bronchiectasis With Or Without Elevated Sweat Chloride 1
Chronic bronchitis, Bronchiectasis OMIM:211400
Ciliary Dyskinesia, Primary, 23
Productive cough, Neonatal respiratory distress, Chronic bronchitis, Ciliary dyskinesia, Bronchie... OMIM:615451
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Recurrent bacterial infections, Recurrent staphylococcal infections, Neutropenia, Recurrent strep... ORPHA:70592
Immunodeficiency 14A, Autosomal Dominant
Increased proportion of transitional B cells, Decreased proportion of class-switched memory B cel... OMIM:615513
Ciliary Dyskinesia, Primary, 46
Ciliary dyskinesia, Bronchiectasis, Reduced forced expiratory volume in one second, Recurrent oti... OMIM:619436
Immunodeficiency 62
Autoimmune thrombocytopenia, Bronchiectasis OMIM:618459
Agammaglobulinemia 4, Autosomal Recessive
Recurrent bacterial infections, Neutropenia, Recurrent otitis media, Chronic sinusitis, Recurrent... OMIM:613502
Slc35A1-Cdg
Thrombocytopenia, Abnormal platelet granules, Giant platelets, Neutropenia ORPHA:238459
Immunodeficiency, Common Variable, 12, With Autoimmunity
Chronic pulmonary obstruction, Bronchiectasis, Recurrent sinopulmonary infections, Recurrent infe... OMIM:616576
Tn Polyagglutination Syndrome
Abnormal erythrocyte morphology, Autoimmunity OMIM:300622
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Erythroderma, Recurrent herpes, Pneumonia, Failure to thrive secondary to recurrent infections, C... ORPHA:169160
Immunodeficiency 85 And Autoimmunity
Reduced natural killer cell count, Decreased proportion of CD4-positive helper T cells, Lymphopen... OMIM:619510
Immunodeficiency 50
Eczema, Neutropenia, Recurrent urinary tract infections, Lymphopenia, Recurrent respiratory infec... OMIM:300988
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Pancytopenia, Hypersplenism, Decreased helper T cell proportion, Splenomegaly OMIM:183350
Immunodeficiency, Common Variable, 1
Recurrent bacterial infections, B lymphocytopenia, Decreased proportion of class-switched memory ... OMIM:607594
Tracheobronchomegaly
Recurrent bronchopulmonary infections, Bronchiectasis OMIM:275300
Ciliary Dyskinesia, Primary, 39
Bronchiectasis, Rhinorrhea, Recurrent otitis media, Cough, Recurrent lower respiratory tract infe... OMIM:618254
Ciliary Dyskinesia, Primary, 41
Recurrent otitis media, Recurrent sinusitis, Impaired nasal mucociliary clearance, Bronchiectasis OMIM:618449
Ciliary Dyskinesia, Primary, 3
Neonatal respiratory distress, Ciliary dyskinesia, Bronchiectasis, Recurrent otitis media, Recurr... OMIM:608644
Myh9-Related Disease
Neutrophil inclusion bodies, Increased mean platelet volume, Giant platelets, Congenital thromboc... ORPHA:182050
Ciliary Dyskinesia, Primary, 29
Ciliary dyskinesia, Bronchiectasis, Recurrent respiratory infections, Decreased nasal nitric oxid... OMIM:615872
Immunodeficiency 54
Reduced natural killer cell count, Adrenal insufficiency, Adrenocorticotropic hormone excess, Spl... OMIM:609981
Fechtner syndrome
Thrombocytopenia, Neutrophil inclusion bodies, Giant platelets, Leukocyte inclusion bodies OMIM:153640
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Hepatomegaly, Decreased proportion of class-switched memory B cells, Decreased proportion of marg... OMIM:619375
Ciliary Dyskinesia, Primary, 28
Sinusitis, Chronic bronchitis, Ciliary dyskinesia, Bronchiectasis, Rhinitis, Respiratory insuffic... OMIM:615505
Bronchiolitis Obliterans With Obstructive Pulmonary Disease
Bronchiolitis obliterans, Hypoxemia, Pneumonia, Bronchiectasis, Reduced forced expiratory volume ... ORPHA:1303
Preeclampsia/Eclampsia 1
Thrombocytopenia, Proteinuria OMIM:189800
Combined Immunodeficiency Due To Partial Rag1 Deficiency
B lymphocytopenia, Sepsis, Interstitial pneumonitis, Neutropenia in presence of anti-neutropil an... ORPHA:231154
Idiopathic Bronchiectasis
Wheezing, Productive cough, Abnormal respiratory system physiology, Crackles, Bronchiectasis, Red... ORPHA:60033
Agammaglobulinemia 8, Autosomal Dominant
B lymphocytopenia, Recurrent otitis media, Recurrent infections OMIM:616941
Ciliary Dyskinesia, Primary, 32
Neonatal respiratory distress, Ciliary dyskinesia, Bronchiectasis, Immotile cilia, Recurrent resp... OMIM:616481
Neutropenia, Severe Congenital, 7, Autosomal Recessive
Neutropenia, Recurrent infections OMIM:617014
Immunodeficiency With Hyper-Igm, Type 4
Recurrent bacterial infections, Recurrent infection of the gastrointestinal tract, Bronchiectasis... OMIM:608184
Bernard-Soulier Syndrome
Thrombocytopenia, Giant platelets, Impaired ristocetin-induced platelet aggregation OMIM:231200
Immunodeficiency 76
B lymphocytopenia, T lymphocytopenia, Lymphopenia, Splenomegaly OMIM:619164
Ras-Associated Autoimmune Leukoproliferative Disorder
Hepatomegaly, Autoimmunity, Neutropenia, Monocytosis, Leukemia, Splenomegaly, Autoimmune thromboc... OMIM:614470
Ciliary Dyskinesia, Primary, 5
Sinusitis, Ciliary dyskinesia, Recurrent bronchitis, Bronchiectasis, Rhinitis, Respiratory insuff... OMIM:608647
Atypical Hemolytic Uremic Syndrome
Microangiopathic hemolytic anemia, Hematuria, Acute kidney injury, Thrombocytopenia, Proteinuria ORPHA:2134
Immunodeficiency 65, Susceptibility To Viral Infections
Bronchiectasis, Recurrent viral infections, Recurrent gastroenteritis, Stomatitis OMIM:618648
Ciliary Dyskinesia, Primary, 36, X-Linked
Neonatal respiratory distress, Bronchiectasis, Cough, Recurrent respiratory infections, Recurrent... OMIM:300991
Nephrotic Syndrome, Type 17
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Steroid-resistant nephrotic s... OMIM:618176
Mu-Heavy Chain Disease
Hepatomegaly, Abnormal B cell count, Lymphadenopathy, Bence Jones Proteinuria, Anemia, Splenomega... ORPHA:100024
Nephrotic Syndrome, Type 23
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Podocyte foot process effa... OMIM:619201
Nephrotic Syndrome, Type 18
Steroid-resistant nephrotic syndrome, Focal segmental glomerulosclerosis, Proteinuria, Stage 5 ch... OMIM:618177
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Recurrent bacterial infections, Sepsis, Decreased proportion of naive T cells, Recurrent opportun... ORPHA:276
Nephrotic Syndrome, Type 20
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome OMIM:301028
Focal Segmental Glomerulosclerosis 8
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome OMIM:616032
Nephrotic Syndrome, Type 19
Steroid-resistant nephrotic syndrome, Chronic kidney disease, Focal segmental glomerulosclerosis,... OMIM:618178
Persistent Polyclonal B-Cell Lymphocytosis
Hepatomegaly, Lymphocytosis, Splenomegaly OMIM:606445
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, B lymphocytopenia, Neutropenia, Bronchiectasis, Abscess, Chronic oral can... OMIM:150550
Lipoprotein Glomerulopathy
Glomerulopathy, Proteinuria, Renal insufficiency, Mesangial hypercellularity OMIM:611771
Focal Segmental Glomerulosclerosis 1
Focal segmental glomerulosclerosis, Proteinuria, Anemia, Stage 5 chronic kidney disease OMIM:603278
Focal Segmental Glomerulosclerosis 7
Renal hypoplasia, Focal segmental glomerulosclerosis, Nephrotic syndrome, Stage 5 chronic kidney ... OMIM:616002
Scedosporiosis
Sinusitis, Sepsis, Abnormal respiratory system physiology, Fungal meningitis, Pleuritis, Septic a... ORPHA:449280
Immunodeficiency 64
Abnormal CD4:CD8 ratio, Anti-thyroid peroxidase antibody positivity, Mediastinal lymphadenopathy,... OMIM:618534
Agammaglobulinemia 6, Autosomal Recessive
Recurrent bacterial infections, Recurrent bronchitis, Recurrent otitis media, Chronic sinusitis, ... OMIM:612692
Cystic Disease Of Lung
Spontaneous neonatal pneumothorax, Recurrent infections, Multiple pulmonary cysts OMIM:219600
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Focal segmental glomerulosclerosis, Nephrotic syndrome, Nephropathy, Glomerulopathy, Thrombocytop... OMIM:254900
Aicardi-Goutieres Syndrome 2
Lymphocytosis OMIM:610181
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Fluctuating splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Bronchiectasis, R... OMIM:619220
Immunodeficiency 7
Lymphadenopathy, Autoimmunity, Hypereosinophilia OMIM:615387
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Sepsis, Severe varicella zoster infection, Neutropenia, Chronic bronchitis, Hepatosplenomegaly, P... OMIM:618986
Focal Segmental Glomerulosclerosis 2
Focal segmental glomerulosclerosis, Nephrotic syndrome, Stage 5 chronic kidney disease, Chronic k... OMIM:603965
Immunodeficiency, Common Variable, 6
Macroscopic hematuria, Hepatomegaly, Hydronephrosis, Mesangial Immune complex deposition, Stage 5... OMIM:613496
Thymic Aplasia
Sinusitis, Sepsis, Chronic otitis media, Recurrent infections, Recurrent candida infections, Oppo... ORPHA:83471
Severe Combined Immunodeficiency, X-Linked
Impaired lymphocyte transformation with phytohemagglutinin, Pneumonia, Recurrent fungal infection... OMIM:300400
Focal Segmental Glomerulosclerosis 10
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Stage 5 chronic kidney dis... OMIM:256020
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Hepatomegaly, Autoimmunity, Lymphadenopathy, Splenomegaly, Recurrent urinary tract infections, Au... OMIM:618495
Pelger-Huet Anomaly
Neutropenia, Hyposegmentation of neutrophil nuclei, Giant platelets, Thrombocytopenia, Abnormalit... OMIM:169400
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Hypoplasia of the thymus, Lymphopenia OMIM:200900
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Absent tonsils, B lymphocytopenia, Autoimmunity, Anti-thyroid peroxidase antibody positivity, Lym... ORPHA:277
Immunoglobulin A Deficiency 2
Autoimmunity, Abnormal lymphocyte morphology OMIM:609529
Primary Membranoproliferative Glomerulonephritis
C3 nephritic factor positivity, Nephrotic syndrome, Glomerular subendothelial electron-dense depo... ORPHA:54370
Sitosterolemia 1
Stomatocytosis, Episodic hemolytic anemia, Elevated circulating sitosterol concentration, Splenom... OMIM:210250
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Chronic bronchitis, Recurrent infections, Pneumonia OMIM:614069
Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities
Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome OMIM:614199
Focal Segmental Glomerulosclerosis 5
Focal segmental glomerulosclerosis, Microscopic hematuria, Stage 5 chronic kidney disease, Protei... OMIM:613237
Pancytopenia And Occlusive Vascular Disease
Pancytopenia, Thrombocytopenia, Anemia, Leukopenia OMIM:167850
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations
Neutropenia, Lymphopenia OMIM:614868
Diffuse Alveolar Hemorrhage
Leukocytosis, Autoimmunity, Antineutrophil antibody positivity, Hematuria, Anemia, Rheumatoid fac... ORPHA:90060
Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive
Atopic dermatitis, Eczema, Bronchiectasis, Recurrent otitis media, Recurrent infections, Chronic ... OMIM:618282
Focal Segmental Glomerulosclerosis 3, Susceptibility To
Hematuria, Focal segmental glomerulosclerosis, Proteinuria, Renal insufficiency OMIM:607832
Lymphoid System Deterioration, Progressive
Abnormal T cell morphology, Lymphopenia OMIM:247630
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Decreased mean platelet volume, Thrombocytopenia, Lymphocytosis OMIM:617718
Immunodeficiency 68
B lymphocytopenia, Abscess, T lymphocytopenia, Abnormal natural killer cell count OMIM:612260
Ciliary Dyskinesia, Primary, 20
Ciliary dyskinesia, Bronchiectasis, Respiratory insufficiency due to defective ciliary clearance,... OMIM:615067
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Reduced natural killer cell count, T lymphocytopenia OMIM:242860
Isolated Agammaglobulinemia
Sinusitis, Sepsis, Pneumonia, Recurrent cutaneous abscess formation, Abnormal lymphocyte morpholo... ORPHA:229717
Immunodeficiency 77
Chronic pulmonary obstruction, Bronchiectasis, Nontuberculous mycobacterial pulmonary infection, ... OMIM:619223
Ciliary Dyskinesia, Primary, 45
Immotile cilia, Chronic rhinitis, Recurrent respiratory infections, Bronchiectasis OMIM:618801
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Thrombocytopenia, Increased mean platelet volume OMIM:300048
Focal Segmental Glomerulosclerosis 6
Renal tubular atrophy, Focal segmental glomerulosclerosis, Nephrotic syndrome, Hematuria, Chronic... OMIM:614131
Autoimmune Hemolytic Anemia, Cold Type
Autoimmunity, Hemolytic anemia, Abnormal leukocyte morphology, Splenomegaly ORPHA:228312
Reticular Dysgenesis
Hypoplasia of the thymus, Lymphopenia, Congenital agranulocytosis, Leukopenia OMIM:267500
Preeclampsia
Autoimmunity, Acute kidney injury, Abnormality of the hepatic vasculature, Chronic kidney disease... ORPHA:275555
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Bronchiectasis, Chronic otitis media, Respiratory distress, Abnormal mucociliary clearance, Recur... OMIM:619466
Cholesterol Pneumonia
Tachypnea, Cough, Pneumonia OMIM:215030
Ciliary Dyskinesia, Primary, 24
Sinusitis, Ciliary dyskinesia, Bronchiectasis, Rhinitis, Recurrent sinusitis OMIM:615481
Pulmonary Alveolar Proteinosis, Acquired
Brain abscess, Hypoxemia, Lung abscess, Pneumonia, Cough, Decreased DLCO, Restrictive ventilatory... OMIM:610910
Hyperprolinemia Type 1
Prolinuria, Proteinuria, Nephropathy ORPHA:419
Glomerulopathy With Fibronectin Deposits 1
Lobular glomerulopathy, Nephrotic syndrome, Stage 5 chronic kidney disease, Microscopic hematuria... OMIM:137950
Coenzyme Q10 Deficiency, Primary, 3
Proteinuria, Nephrotic syndrome OMIM:614652
Idiopathic Achalasia
Wheezing, Recurrent aspiration pneumonia, Cough, Bronchitis ORPHA:930
Immunodeficiency By Defective Expression Of Mhc Class Ii
Sinusitis, Neutropenia, Recurrent protozoan infections, Recurrent herpes, Neutropenia in presence... ORPHA:572
Autoimmune Lymphoproliferative Syndrome
Hepatomegaly, Platelet antibody positive, Elevated proportion of CD4-negative, CD8-negative, alph... OMIM:601859
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Abnormally low T cell receptor excision circle level, B lymphocytopenia, Cervical lymphadenopathy OMIM:618987
C3 Glomerulopathy
Autoimmunity, C3 nephritic factor positivity, Nephrotic syndrome, Hematuria, Stage 5 chronic kidn... ORPHA:329918
Hemochromatosis, Type 3
Increased serum iron, Neutropenia, Hypogonadotropic hypogonadism, Anemia, Elevated transferrin sa... OMIM:604250
Amyloidosis, Familial Visceral
Hepatomegaly, Nephrotic syndrome, Hematuria, Splenomegaly, Cholestasis, Nephropathy, Proteinuria OMIM:105200
Epidermodysplasia Verruciformis, Susceptibility To, 5
T lymphocytopenia, Lymphopenia OMIM:618309
Caspase 8 Deficiency
Eczema, Recurrent herpes, Pneumonia, Recurrent sinopulmonary infections, Splenomegaly, Asthma, De... OMIM:607271
Autosomal Dominant Severe Congenital Neutropenia
Recurrent bacterial infections, Recurrent infection of the gastrointestinal tract, Acute lymphobl... ORPHA:486
Nephrotic Syndrome, Type 9
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome OMIM:615573
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Renal tubular atrophy, Focal segmental glomerulosclerosis, Nephrocalcinosis, Proximal tubulopathy... OMIM:308990
Immunodeficiency 84
B lymphocytopenia, Perianal abscess, Splenomegaly OMIM:619437
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Sepsis, Cholangitis, Recurrent herpes, Recurrent infections, Recurrent respiratory infections, Br... ORPHA:183675
Immunodeficiency 21
Abnormal natural killer cell morphology, Neutropenia, Lymphopenia, Myeloid leukemia, Monocytopeni... OMIM:614172
Familial Nasal Acilia
Bronchiectasis, Chronic rhinitis, Chronic sinusitis, Respiratory distress, Recurrent upper respir... ORPHA:922
Anti-Glomerular Basement Membrane Disease
Autoimmunity, Hematuria, Anemia, Glomerulopathy, Proteinuria, Renal insufficiency ORPHA:375
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Bronchiolitis obliterans, Eczema, Hypoplasia of the thymus, Decreased proportion of CD4-positive ... OMIM:617241
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Recurrent bacterial infections, Sinusitis, Enteroviral hepatitis, Infectious encephalitis, Entero... OMIM:307200
Ciliary Dyskinesia, Primary, 35
Bronchiectasis, Chronic rhinitis, Chronic sinusitis, Cough, Recurrent respiratory infections OMIM:617092
Omenn Syndrome
Recurrent bacterial infections, B lymphocytopenia, Erythroderma, Pneumonia, Recurrent fungal infe... OMIM:603554
C1Q Deficiency
Autoimmunity, Systemic lupus erythematosus, Membranoproliferative glomerulonephritis OMIM:613652
Muscular Hypertonia, Lethal
Pneumonia OMIM:254120
Ciliary Dyskinesia, Primary, 11
Neonatal respiratory distress, Chronic bronchitis, Ciliary dyskinesia, Bronchiectasis, Chronic rh... OMIM:612649
Autoimmune Lymphoproliferative Syndrome
Autoimmunity, Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, N... ORPHA:3261
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Neutropenia, Leukopenia, Anemia, Splenomegaly, Extramedullary hematopoiesis, Thrombocytopenia OMIM:615285
Ciliary Dyskinesia, Primary, 7
Ciliary dyskinesia, Bronchiectasis, Reduced FEV1/FVC ratio, Abnormal ciliary motility, Recurrent ... OMIM:611884
Immunodeficiency 37
Infectious encephalitis, Colitis, Decreased proportion of central memory CD4-positive, alpha-beta... OMIM:616098
Ciliary Dyskinesia, Primary, 43
Productive cough, Neonatal respiratory distress, Bronchiectasis, Chronic rhinitis, Chronic sinusi... OMIM:618699
Ciliary Dyskinesia, Primary, 26
Neonatal respiratory distress, Chronic bronchitis, Ciliary dyskinesia, Bronchiectasis, Rhinitis, ... OMIM:615500
Nephrotic Syndrome, Type 2
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome OMIM:600995
Pgm3-Cdg
Abnormal CD4:CD8 ratio, Neutropenia, Abnormal proportion of CD8-positive T cells, Leukopenia, Neu... ORPHA:443811
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Renal tubular atrophy, Nephrocalcinosis, Proximal tubulopathy, Tubulointerstitial fibrosis, Glome... OMIM:310468
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Abnormal T cell morphology, Mucopolysacchariduria, Nephrotic syndrome, Macronodular cirrhosis, Pr... OMIM:215250
Unclassified Myelodysplastic Syndrome
Leukocytosis, Autoimmunity, Acute myeloid leukemia, Bone marrow hypocellularity ORPHA:98827
Spastic Paraplegia-Nephritis-Deafness Syndrome
Proteinuria, Nephropathy ORPHA:2820
Ciliary Dyskinesia, Primary, 25
Sinusitis, Chronic pulmonary obstruction, Ciliary dyskinesia, Bronchiectasis, Immotile cilia, Rec... OMIM:615482
Nephrotic Syndrome, Type 15
Stage 5 chronic kidney disease, Proteinuria, Minimal change glomerulonephritis, Nephrotic syndrome OMIM:617609
Immunodeficiency 22
Recurrent respiratory infections, Panniculitis, Decreased proportion of CD4-positive helper T cells OMIM:615758
Pediatric Systemic Lupus Erythematosus
Leukopenia, Microangiopathic hemolytic anemia, Lymphadenopathy, Antineutrophil antibody positivit... ORPHA:93552
Immunodeficiency 92
Leukocytosis, B lymphocytopenia, Decreased proportion of class-switched memory B cells, Thrombocy... OMIM:619652
Eosinophilopenia
Autoimmunity, Decreased eosinophil count OMIM:131430
T-Cell Immunodeficiency With Thymic Aplasia
Abnormal T cell morphology, Eczematoid dermatitis, Pyoderma, Bronchiectasis, Recurrent bronchopul... OMIM:242700
Immunodeficiency 56
Recurrent infection of the gastrointestinal tract, Cholangitis, Bronchiectasis, Recurrent otitis ... OMIM:615207
Juvenile Arthritis
Thrombocytosis, Leukocytosis, Antinuclear antibody positivity OMIM:618795
Hermansky-Pudlak Syndrome 2
Neutropenia, Enlarged platelet dense granules, Absent platelet dense granules, Splenomegaly, Redu... OMIM:608233
Imerslund-Grasbeck Syndrome 2
Megaloblastic anemia, Proteinuria OMIM:618882
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Absent natural killer cells, Impaired lymphocyte transformation with phytohemagglutinin, T lympho... OMIM:600802
Coenzyme Q10 Deficiency, Primary, 6
Diffuse mesangial sclerosis, Focal segmental glomerulosclerosis, Proteinuria, Nephrotic syndrome OMIM:614650
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Stomatocytosis, Hemolytic anemia, Increased mean platelet volume, Splenomegaly OMIM:153670
Nail-Patella-Like Renal Disease
Glomerulopathy, Microscopic hematuria, Proteinuria, Renal insufficiency ORPHA:2613
Ciliary Dyskinesia, Primary, 12
Ciliary dyskinesia, Bronchiectasis, Chronic rhinitis, Chronic sinusitis, Recurrent respiratory in... OMIM:612650
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells... OMIM:611926
Lecithin:Cholesterol Acyltransferase Deficiency
Normochromic anemia, Hemolytic anemia, Renal insufficiency, Proteinuria OMIM:245900
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Recurrent bacterial infections, Recurrent opportunistic infections, Recurrent viral infections, C... ORPHA:275
Renal Failure, Progressive, With Hypertension
Nephritis, Stage 5 chronic kidney disease, Microscopic hematuria, Proteinuria, Renal insufficiency OMIM:161900
Thrombotic Thrombocytopenic Purpura
Microangiopathic hemolytic anemia, Hematuria, Acute kidney injury, Reticulocytosis, Thrombocytope... ORPHA:54057
Galloway-Mowat Syndrome 8
Renal tubular atrophy, Focal segmental glomerulosclerosis, Nephrotic syndrome, Hematuria, Protein... OMIM:618349
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Increased serum iron, Congenital hemolytic anemia, Reduced red cell pyruvate kinase level, Unconj... ORPHA:766
Tracheobronchopathia Osteochondroplastica
Wheezing, Productive cough, Stridor, Respiratory insufficiency, Pneumonia, Esophagitis, Upper air... ORPHA:3348
Bleeding Disorder, Platelet-Type, 19
Macrothrombocytopenia, Anemia OMIM:616176
Pneumocystosis
Hypoxemia, Respiratory insufficiency, Interstitial pneumonitis, Chronic oral candidiasis, Exertio... ORPHA:723
Acute Erythroid Leukemia
Pancytopenia, Anemia, Leukopenia, Erythroid hypoplasia ORPHA:318
Staphylococcal Necrotizing Pneumonia
Leukocytosis, Sepsis, Hypoxemia, Leukopenia, Pneumonia, Tachypnea, Pneumothorax, Cough, Pleural e... ORPHA:36238
Melioidosis
Brain abscess, Abnormality of the spleen, Sepsis, Splenic abscess, Lung abscess, Unusual skin inf... ORPHA:31202
Iga Nephropathy, Susceptibility To, 2
IgA deposition in the glomerulus, Hematuria, Nephritis, Stage 5 chronic kidney disease, Proteinuria OMIM:613944
Nephrotic Syndrome, Type 14
Focal segmental glomerulosclerosis, Nephrotic syndrome, Stage 5 chronic kidney disease, Micropeni... OMIM:617575
Nephrotic Syndrome, Type 3
Focal segmental glomerulosclerosis, Nephrotic syndrome, Stage 5 chronic kidney disease, Diffuse m... OMIM:610725
Facioscapulohumeral Muscular Dystrophy 3, Digenic
Aspiration pneumonia OMIM:619477
Charcot-Marie-Tooth Disease, Dominant Intermediate E
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease OMIM:614455
X-Linked Lymphoproliferative Disease
Autoimmunity, Lymphadenopathy, Splenomegaly, Absent natural killer cells, Hepatosplenomegaly, Lym... ORPHA:2442
Bone Marrow Failure Syndrome 2
Thrombocytopenia, Anemia, Leukopenia OMIM:615715
Isolated Congenital Hypoglossia/Aglossia
Respiratory distress, Dyspnea, Aspiration pneumonia, Upper airway obstruction ORPHA:141152
Idiopathic Non-Lupus Full-House Nephropathy
Abnormal glomerular mesangium morphology, Nephrotic syndrome, Acute kidney injury, Microscopic he... ORPHA:567544
Ciliary Dyskinesia, Primary, 15
Wheezing, Neonatal respiratory distress, Chronic bronchitis, Ciliary dyskinesia, Bronchiectasis, ... OMIM:613808
Ciliary Dyskinesia, Primary, 34
Neonatal respiratory distress, Bronchiectasis, Recurrent bronchitis, Chronic rhinitis, Decreased ... OMIM:617091
Neonatal Alloimmune Neutropenia
Sepsis, Pneumonia, Neutropenia in presence of anti-neutropil antibodies, Meningitis, Severe infec... ORPHA:464370
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Mental Retardation, And Distinctive Facies
Renal cortical hyperechogenicity, Renal hypoplasia, Medullary nephrocalcinosis, Reduced renal cor... OMIM:611555
Imerslund-Grasbeck Syndrome 1
Megaloblastic anemia, Proteinuria OMIM:261100
Bare Lymphocyte Syndrome, Type I
Bronchiectasis, Chronic otitis media, Recurrent bronchitis, Chronic sinusitis, Bronchiolitis, Emp... OMIM:604571
Iga Nephropathy, Susceptibility To, 3
IgA deposition in the glomerulus, Hematuria, Stage 5 chronic kidney disease, Mesangial hypercellu... OMIM:616818
Nephrotic Syndrome, Type 16
Hematuria, Proteinuria, Nephrotic syndrome OMIM:617783
Nephrotic Syndrome, Type 6
Focal segmental glomerulosclerosis, Tubulointerstitial fibrosis, Proteinuria, Nephrotic syndrome OMIM:614196
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Hypochromic anemia, Anisocytosis, Poikilocytosis, Macrothrombocytopenia, Anemia of inadequate pro... ORPHA:67044
Lipodystrophy, Partial, Acquired, Susceptibility To
Hematuria, Proteinuria, Nephrotic syndrome, Membranoproliferative glomerulonephritis OMIM:608709
Whim Syndrome 1
Recurrent bacterial infections, Recurrent upper respiratory tract infections, Neutropenia, Bronch... OMIM:193670
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis
Hematuria, Proteinuria, Nephrotic syndrome, Membranoproliferative glomerulonephritis OMIM:613913
Agammaglobulinemia, X-Linked
Sinusitis, Enteroviral hepatitis, Infectious encephalitis, Enteroviral dermatomyositis syndrome, ... OMIM:300755
Glomerulopathy With Fibronectin Deposits 2
Nephrotic syndrome, Renal cell carcinoma, Stage 5 chronic kidney disease, Microscopic hematuria, ... OMIM:601894
Congenital Disorder Of Glycosylation, Type Iic
Pneumonia, Recurrent otitis media, Bronchiolitis, Periodontitis, Reduction of neutrophil motility... OMIM:266265
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Leukopenia, Monocytosis, Refractory anemia, Systemic lupus erythematosus, Bone marrow hypocellula... OMIM:616871
Syndromic Diarrhea
Thrombocytosis, Abnormality of iron homeostasis, Increased mean platelet volume, Hypoplasia of th... ORPHA:84064
Immunodeficiency, Common Variable, 8, With Autoimmunity
Sepsis, Inflammation of the large intestine, Recurrent infections, Splenomegaly, Uveitis, Pancyto... OMIM:614700
Storage Pool Platelet Disease
Decreased mean platelet volume, Acute leukemia OMIM:185050
Idiopathic Pulmonary Fibrosis
Honeycomb lung, Crackles, Bronchiectasis, Cough, Exertional dyspnea, Abnormal pulmonary interstit... ORPHA:2032
Nephrotic Syndrome, Type 8
Nephrotic syndrome, Thin glomerular basement membrane, Chronic kidney disease, Diffuse mesangial ... OMIM:615244
Ciliary Dyskinesia, Primary, 13
Sinusitis, Ciliary dyskinesia, Bronchiectasis, Recurrent bronchitis, Recurrent otitis media OMIM:613193
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Eosinophilia, Lymphopenia ORPHA:2582
Neuraminidase Deficiency
Hepatomegaly, Vacuolated lymphocytes, Bone-marrow foam cells, Urinary excretion of sialylated oli... OMIM:256550
Purine Nucleoside Phosphorylase Deficiency
Abnormal T cell morphology, Autoimmunity, Decreased urinary urate, Systemic lupus erythematosus, ... ORPHA:760
Immunodeficiency 36
Recurrent bacterial infections, Chronic lymphatic leukemia, Bronchiectasis, Splenomegaly, Lymphop... OMIM:616005
Systemic Lupus Erythematosus
Lupus nephritis, Leukopenia, Nephritis, Systemic lupus erythematosus, Thrombocytopenia, Hemolytic... OMIM:152700
Ciliary Dyskinesia, Primary, 14
Wheezing, Neonatal respiratory distress, Chronic bronchitis, Ciliary dyskinesia, Bronchiectasis, ... OMIM:613807
Macrophage Activation Syndrome
Neutropenia, Anemia, Splenomegaly, Increased circulating ferritin concentration, Hypertriglycerid... ORPHA:158061
Aspergillosis
Sinusitis, Neutropenia, Pleuritis, Hepatitis, Unusual CNS infection, Eosinophilia, Chronic pulmon... ORPHA:1163
Ciliary Dyskinesia, Primary, 30
Chronic bronchitis, Respiratory insufficiency, Ciliary dyskinesia, Bronchiectasis, Respiratory in... OMIM:616037
Heme Oxygenase 1 Deficiency
Hepatomegaly, Thrombocytosis, Asplenia, Lymphadenopathy, Coombs-positive hemolytic anemia, Hematu... OMIM:614034
Immunodeficiency 31C
Autoimmunity, Lymphopenia, Autoimmune hemolytic anemia OMIM:614162
Ciliary Dyskinesia, Primary, 17
Ciliary dyskinesia, Bronchiectasis, Chronic rhinitis, Chronic sinusitis, Cough, Recurrent respira... OMIM:614679
Wiskott-Aldrich Syndrome
Sepsis, Impaired lymphocyte transformation with phytohemagglutinin, Eczema, Inflammation of the l... OMIM:301000
Ciliary Dyskinesia, Primary, 22
Sinusitis, Chronic bronchitis, Ciliary dyskinesia, Bronchiectasis, Rhinitis, Respiratory insuffic... OMIM:615444
Pseudo-Torch Syndrome 3
Leukocytosis, Lymphadenitis, Anemia, Acute kidney injury, Congenital thrombocytopenia, Proteinuria OMIM:618886
Chronic Beryllium Disease
Reticulonodular pattern on pulmonary HRCT, Lymphocytic interstitial pneumonia, Respiratory insuff... ORPHA:133
Purine Nucleoside Phosphorylase Deficiency
Recurrent bacterial infections, Sinusitis, Recurrent opportunistic infections, Pneumonia, Neutrop... OMIM:613179
Retinal Dystrophy And Microvillus Inclusion Disease
Recurrent upper respiratory tract infections, Recurrent lower respiratory tract infections, Bronc... OMIM:619446
Combined Immunodeficiency Due To Crac Channel Dysfunction
Recurrent bacterial infections, Sepsis, Pneumonia, Chronic otitis media, Recurrent fungal infecti... ORPHA:169090
Infant Acute Respiratory Distress Syndrome
Sepsis, Hypoxemia, Pneumonia, Tachypnea, Respiratory tract infection, Pulmonary edema, Respirator... ORPHA:70587
Surfactant Metabolism Dysfunction, Pulmonary, 2
Desquamative interstitial pneumonitis, Nonspecific interstitial pneumonia, Spontaneous pneumothor... OMIM:610913
Immunodeficiency 81
Decreased proportion of class-switched memory B cells, Recurrent cutaneous abscess formation, Abs... OMIM:619374
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Leukocytosis, Hemoglobinuria, Heinz bodies, Splenomegaly, Fava bean-induced hemolytic anemia, Ani... OMIM:300908
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Abnormal B cell count, Decreased proportion of CD3-positive T cells, Hepatosplenomegaly, Abnormal... ORPHA:331206
Neutropenia, Severe Congenital, 2, Autosomal Dominant
B lymphocytopenia, Neutropenia, Monocytosis OMIM:613107
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Wheezing, Hypoxemia, Honeycomb lung, Chronic bronchitis, Chronic pulmonary obstruction, Bronchiec... ORPHA:79127
Laryngeal Abductor Paralysis-Intellectual Disability Syndrome
Neonatal asphyxia, Congenital laryngeal stridor, Bronchiectasis ORPHA:2375
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
B lymphocytopenia, Impaired lymphocyte transformation with phytohemagglutinin, Absent natural kil... ORPHA:35078
Tularemia
Brain abscess, Leukocytosis, Pneumonia, Anemia, Cough, Meningitis, Respiratory distress, Otitis m... ORPHA:3392
Cleft Velum
Recurrent otitis media, Aspiration pneumonia ORPHA:99772
Ciliary Dyskinesia, Primary, 19
Chronic bronchitis, Ciliary dyskinesia, Bronchiectasis, Rhinitis, Respiratory insufficiency due t... OMIM:614935
Genetic Steroid-Resistant Nephrotic Syndrome
Focal segmental glomerulosclerosis, Foamy urine, Minimal change glomerulonephritis, Peritonitis, ... ORPHA:656
Autosomal Agammaglobulinemia
Sinusitis, Sepsis, Neutropenia, Bronchiectasis, Chronic otitis media, Hepatitis, Recurrent infect... ORPHA:33110
Immunodeficiency, Common Variable, 2
Recurrent bacterial infections, Recurrent bronchitis, Bronchiectasis, Recurrent otitis media, Spl... OMIM:240500
Bernard-Soulier Syndrome
Decreased platelet glycoprotein Ib-IX-V, Macrothrombocytopenia, Giant platelets, Impaired ristoce... ORPHA:274
Galloway-Mowat Syndrome 5
Proteinuria, Glomerular sclerosis, Stage 5 chronic kidney disease, Nephrotic syndrome OMIM:617731
Iga Nephropathy, Susceptibility To, 1
IgA deposition in the glomerulus, Hematuria, Nephritis, Stage 5 chronic kidney disease, Proteinuria OMIM:161950
Schimke Immuno-Osseous Dysplasia
Decreased proportion of naive CD8 T cells, Focal segmental glomerulosclerosis, Autoimmunity, Neut... ORPHA:1830
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Glomerulopathy, Proteinuria, Anemia, Renal insufficiency ORPHA:2668
Galloway-Mowat Syndrome 2, X-Linked
Minimal change glomerulonephritis, Nephrotic syndrome, Glomerular sclerosis, Stage 5 chronic kidn... OMIM:301006
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Anemia, Proteinuria, Nephrotic syndrome, Nephropathy ORPHA:1192
Ciliary Dyskinesia, Primary, 16
Ciliary dyskinesia, Bronchiectasis, Chronic otitis media, Chronic rhinitis, Chronic sinusitis, Ab... OMIM:614017
Microlissencephaly
Pneumonia ORPHA:1083
Fusariosis
Brain abscess, Sinusitis, Neutropenia, Fasciitis, Maculopapular exanthema, Unusual CNS infection,... ORPHA:228119
Acute Lung Injury
Sepsis, Hypoxemia, Pneumonia, Tachypnea, Respiratory distress, Abnormal pulmonary interstitial mo... ORPHA:178320
Allergic Bronchopulmonary Aspergillosis
Respiratory insufficiency, Bronchiectasis, Pulmonary arterial hypertension, Cough, Abnormal eosin... ORPHA:1164
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Thrombocytosis, Macrocytic anemia, Autoimmunity, Megaloblastic anemia, Lymphopenia, Pancytopenia,... OMIM:617780
Trichohepatoenteric Syndrome 1
Increased serum iron, Thrombocytosis, Abnormality of iron homeostasis, Increased mean platelet vo... OMIM:222470
Hemophagocytic Syndrome Associated With An Infection
Hyperproteinemia, Neutropenia, Anemia, Splenomegaly, Increased circulating ferritin concentration... ORPHA:158048
Schimke Immunoosseous Dysplasia
Abnormal T cell morphology, Focal segmental glomerulosclerosis, Neutropenia, Nephrotic syndrome, ... OMIM:242900
Autoimmune Hemolytic Anemia
Autoimmunity, Splenomegaly, Abnormal urinary color, Hemolytic anemia, Abnormal leukocyte morphology ORPHA:98375
Transcobalamin Deficiency
Pancytopenia, Thrombocytopenia, Neutropenia, Lymphopenia ORPHA:859
Thrombocytopenia 3
Decreased mean platelet volume, Thrombocytopenia OMIM:273900
Takenouchi-Kosaki Syndrome
Thrombocytopenia, Increased mean platelet volume OMIM:616737
Obesity Due To Congenital Leptin Deficiency
Insulin-resistant diabetes mellitus, Pituitary hypothyroidism, Hypoplasia of the ovary, Absence o... ORPHA:66628
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Thrombocytosis, Macrocytic anemia, Leukopenia, Erythroid hypoplasia, Acute myeloid leukemia, Anis... ORPHA:86841
Whim Syndrome
Recurrent bacterial infections, Sepsis, Sinusitis, Neutropenia, Pneumonia, Bronchiectasis, Lympha... ORPHA:51636
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Leukopenia, Chronic kidney disease, Anemia, Proteinuria, Hyperechogenic kidneys, Renal salt wasti... OMIM:613845
X-Linked Sideroblastic Anemia
Abnormality of iron homeostasis, Anemia, Splenomegaly ORPHA:75563
Galloway-Mowat Syndrome 4
Nephrotic syndrome, Glomerular sclerosis, Stage 5 chronic kidney disease, Diffuse mesangial scler... OMIM:617730
Rigid Spine Syndrome
Abnormality on pulmonary function testing, Respiratory insufficiency, Pneumonia ORPHA:97244
Panbronchiolitis, Diffuse
Wheezing, Hypoxemia, Crackles, Bronchiectasis, Rhonchi, Cough OMIM:604809
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Sepsis, Eczema, Psoriasiform dermatitis, Bronchiectasis, Arthritis, Recurrent lower respiratory t... OMIM:616100
Combined Immunodeficiency With Faciooculoskeletal Anomalies
B lymphocytopenia, Reduced natural killer cell count, Decreased proportion of CD4-positive helper... ORPHA:221139
Hemochromatosis, Type 2B
Increased serum iron, Anemia, Elevated transferrin saturation, Splenomegaly, Hypogonadism, Increa... OMIM:613313
Idiopathic Steroid-Resistant Nephrotic Syndrome
Focal segmental glomerulosclerosis, Foamy urine, Minimal change glomerulonephritis, Peritonitis, ... ORPHA:567548
Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome
Aspiration pneumonia OMIM:609528
Obesity Due To Leptin Receptor Gene Deficiency
Insulin-resistant diabetes mellitus, Pituitary hypothyroidism, Hypoplasia of the ovary, Absence o... ORPHA:179494
Avian Influenza
Productive cough, Sepsis, Hypoxemia, Infectious encephalitis, Leukopenia, Pneumonia, Tachypnea, P... ORPHA:454836
Immunodeficiency 27A
Thrombocytosis, Leukocytosis, Pneumonia, Salmonella osteomyelitis, Anemia, Splenomegaly, Increase... OMIM:209950
Wiskott-Aldrich Syndrome, Autosomal Dominant
Absent microvilli on the surface of peripheral blood lymphocytes, Iron deficiency anemia, Decreas... OMIM:600903
Interstitial Nephritis, Karyomegalic
Tubulointerstitial nephritis, Nephronophthisis, Hematuria, Stage 5 chronic kidney disease, Glycos... OMIM:614817
Paroxysmal Cold Hemoglobinuria
Coombs-positive hemolytic anemia, Hemoglobinuria, Abnormal urinary color, Autoimmune hemolytic an... ORPHA:90035
Cold Agglutinin Disease
Hepatomegaly, Autoimmunity, Lymphadenopathy, Splenomegaly, Abnormal urinary color, Hemolytic anemia ORPHA:56425
Nephrotic Syndrome, Type 11
Renal tubular atrophy, Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Nep... OMIM:616730
Nephrotic Syndrome, Type 22
Nephrotic syndrome, Podocyte foot process effacement, Glomerular sclerosis, Stage 5 chronic kidne... OMIM:619155
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Microangiopathic hemolytic anemia, Anuria, Hematuria, Anemia, Hemolytic-uremic syndrome, Acute ki... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Microangiopathic hemolytic anemia, Anuria, Hematuria, Anemia, Hemolytic-uremic syndrome, Acute ki... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Microangiopathic hemolytic anemia, Anuria, Hematuria, Anemia, Hemolytic-uremic syndrome, Acute ki... OMIM:612925
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Microangiopathic hemolytic anemia, Anuria, Hematuria, Anemia, Hemolytic-uremic syndrome, Acute ki... OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Microangiopathic hemolytic anemia, Anuria, Hematuria, Anemia, Hemolytic-uremic syndrome, Acute ki... OMIM:612926
Lymphoproliferative Syndrome 1
Hepatomegaly, Autoimmunity, Leukopenia, Lymphadenopathy, Anemia, Splenomegaly, Autoimmune thrombo... OMIM:613011
Galactosemia I
Hepatomegaly, Aminoaciduria, Increased level of galactitol in urine, Cirrhosis, Albuminuria, Gala... OMIM:230400
Fibronectin Glomerulopathy
Abnormal glomerular mesangium morphology, Nephrotic syndrome, Microscopic hematuria, Glomerulopat... ORPHA:84090
Severe Acute Respiratory Syndrome
Hypoxemia, Cough, Respiratory distress, Acute infectious pneumonia, Chronic lung disease, Dyspnea... ORPHA:140896
Phosphoglycerate Kinase 1 Deficiency
Reticulocytosis, Hemolytic anemia, Renal insufficiency, Exercise-induced myoglobinuria OMIM:300653
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Inappropriate antidiuretic hormone secretion, Anemia, Hepatosplenomegaly, Decreased proportion of... ORPHA:79124
Lymphangiectasia, Intestinal
Lymphopenia, Neonatal hypoproteinemia OMIM:152800
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Cough, Respiratory failure, Dyspnea, Respiratory failure requiring assisted ventilation, Aspirati... ORPHA:90117
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Recurrent bacterial infections, B lymphocytopenia, Sinusitis, Pneumonia, Recurrent fungal infecti... OMIM:102700
Congenital Disorder Of Glycosylation, Type Iif
Neutropenia, Proteinuria, Thrombocytopenia, Aminoaciduria, Macrothrombocytopenia OMIM:603585
Majeed Syndrome
Leukocytosis, Hepatomegaly, Hypochromic microcytic anemia, Congenital hypoplastic anemia, Splenom... ORPHA:77297
Infantile Osteopetrosis With Neuroaxonal Dysplasia
Pneumonia ORPHA:85179
Frasier Syndrome
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome OMIM:136680
Beta-Thalassemia
Abnormality of iron homeostasis, Hypogonadotropic hypogonadism, Anemia, Abnormal hemoglobin, Sple... ORPHA:848
Sarcoidosis, Susceptibility To, 2
Hypoxemia, Bronchiectasis, Pneumothorax, Pulmonary arterial hypertension, Elevated bronchoalveola... OMIM:612387
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Macrocytic anemia, Neutropenia, Abnormal reticulocyte morphology, Abnormal platelet morphology, A... OMIM:300835
Cednik Syndrome
Proteinuria, Nephrotic syndrome ORPHA:66631
Hereditary Pulmonary Alveolar Proteinosis
Crazy paving pattern, Hypoxemia, Crackles, Tachypnea, Cough, Respiratory distress, Acute infectio... ORPHA:264675
Pulmonary Non-Tuberculous Mycobacterial Infection
Chronic pulmonary obstruction, Crackles, Bronchiectasis, Pneumothorax, Cough, Respiratory distres... ORPHA:411703
Immunodeficiency 60 And Autoimmunity
Bronchiectasis, Recurrent sinopulmonary infections, Splenomegaly, Crohn's disease, Decreased baso... OMIM:618394
Autoimmune Hemolytic Anemia, Warm Type
Chronic lymphatic leukemia, Autoimmunity, Systemic lupus erythematosus, Splenomegaly, Autoimmune ... ORPHA:90033
Legionnaires Disease
Lymphadenopathy, Hematuria, Hepatitis, Bone marrow hypocellularity, Pancreatitis, Splenomegaly, L... ORPHA:549
Adult Acute Respiratory Distress Syndrome
Sepsis, Hypoxemia, Pneumonia, Pancreatitis, Abnormal blood gas level, Pulmonary edema, Respirator... ORPHA:70578
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Increased serum iron, Decreased transferrin saturation, Anisopoikilocytosis, Adrenal insufficienc... ORPHA:300298
Immunodeficiency 25
Eosinophilia, T lymphocytopenia, Autoimmune hemolytic anemia OMIM:610163
Immunodeficiency, Common Variable, 13
Pancytopenia, B lymphocytopenia, Acute lymphoblastic leukemia OMIM:616873
Lathosterolosis
Increased mean platelet volume, Anisopoikilocytosis, Schistocytosis, Abnormal circulating cholest... OMIM:607330
Lcat Deficiency
Decreased glomerular filtration rate, Stage 5 chronic kidney disease, Acute kidney injury, Protei... ORPHA:650
Adenine Phosphoribosyltransferase Deficiency
Macroscopic hematuria, Urinary hesitancy, Urinary retention, Dysuria, Nephrolithiasis, Stage 5 ch... ORPHA:976
Ciliary Dyskinesia, Primary, 38
Neonatal respiratory distress, Bronchiectasis, Chronic otitis media, Rhinitis, Chronic sinusitis,... OMIM:618063
Renal Hypoplasia
Urethral valve, Hydronephrosis, Abnormality of the ureter, Pelvic kidney, Glomerulomegaly, Abnorm... ORPHA:93101
Dent Disease 2
Nephrocalcinosis, Proximal tubulopathy, Low-molecular-weight proteinuria, Chronic kidney disease,... OMIM:300555
Galloway-Mowat Syndrome 10
Podocyte foot process effacement, Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidne... OMIM:619609
Hermansky-Pudlak Syndrome 9
Thrombocytopenia, Leukopenia OMIM:614171
Burkitt Lymphoma
Abnormality of the spleen, Decreased proportion of CD4-positive helper T cells, Hyperuricemia ORPHA:543
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Hypoproteinemia, Lymphopenia OMIM:207731
Lymphoproliferative Syndrome, X-Linked, 1
Hepatomegaly, Neutropenia, Lymphadenopathy, Fulminant hepatitis, Splenomegaly, Lymphocytosis, Pan... OMIM:308240
Candidiasis, Familial, 2
Hypereosinophilia, Decreased serum iron OMIM:212050
Spondyloenchondrodysplasia
Autoimmunity, Chronic kidney disease, Hematuria, Hepatitis, Systemic lupus erythematosus, Granulo... ORPHA:1855
Maternally-Inherited Diabetes And Deafness
Glomerulopathy, Proteinuria, Renal insufficiency ORPHA:225
Omenn Syndrome
Leukocytosis, Hepatomegaly, Autoimmunity, Nephrotic syndrome, Lymphadenopathy, Abnormal lymphocyt... ORPHA:39041
Gamma-Heavy Chain Disease
Hepatomegaly, Autoimmunity, Lymphadenopathy, Abnormal lymphocyte morphology, Anemia, Splenomegaly... ORPHA:100026
Bacterial Toxic-Shock Syndrome
Sinusitis, Sepsis, Myocarditis, Severe varicella zoster infection, Fasciitis, Hepatitis, Septic a... ORPHA:36234
Ciliary Dyskinesia, Primary, 1
Asplenia, Recurrent bronchitis, Chronic otitis media, Chronic rhinitis, Pneumonia, Chronic sinusi... OMIM:244400
Pauci-Immune Glomerulonephritis
Macroscopic hematuria, Tubulointerstitial nephritis, Antinuclear antibody positivity, Decreased g... ORPHA:93126
Nephrotic Syndrome, Type 1
Renal tubular atrophy, Congenital nephrotic syndrome, Glomerular sclerosis, Diffuse mesangial scl... OMIM:256300
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Aplasia of the thymus, Recurrent upper respiratory tract infections, Otitis media, Pneumonia OMIM:602450
Immunodeficiency 89 And Autoimmunity
Hypochromic microcytic anemia, Bronchiectasis, Recurrent lower respiratory tract infections, Pleu... OMIM:619632
Ciliary Dyskinesia, Primary, 2
Sinusitis, Ciliary dyskinesia, Bronchiectasis, Respiratory distress, Otitis media, Immotile cilia... OMIM:606763
Aa Amyloidosis
Hepatomegaly, Nephrotic syndrome, Acute kidney injury, Cholestasis, Nephropathy, Chronic kidney d... ORPHA:85445
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Hepatomegaly, Portal fibrosis, Hepatic fibrosis, Increased hepatic glycogen content, Hepatocellul... ORPHA:369
Acute Monoblastic/Monocytic Leukemia
Leukocytosis, Anemia, Hypochromic anemia, Oliguria, Lymphocytosis, Acute monocytic leukemia, Cerv... ORPHA:514
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Hepatomegaly, Increased red cell hemolysis by shear stress, Hemoglobinuria, Hepatitis, Cholelithi... OMIM:194380
Hyper-Ige Recurrent Infection Syndrome 4B, Autosomal Recessive
Eczema, Bronchiectasis, Recurrent otitis media, Keratitis, Recurrent respiratory infections, Eosi... OMIM:618523
Mucopolysaccharidosis-Plus Syndrome
Renal tubular atrophy, Hepatomegaly, Focal segmental glomerulosclerosis, Neutropenia, Nephrotic s... OMIM:617303
Common Variable Immunodeficiency
Pneumonia, Recurrent bronchitis, Chronic otitis media, Bronchiectasis, Splenomegaly, Autoimmune t... ORPHA:1572
Bone Marrow Failure Syndrome 6
Neutropenia, Increased mean corpuscular volume, Anemia, Persistence of hemoglobin F, Lymphopenia,... OMIM:618849
Dent Disease
Renal tubular atrophy, Hyperphosphaturia, Focal segmental glomerulosclerosis, Aminoaciduria, Neph... ORPHA:1652
Thrombocytopenia 1
Decreased mean platelet volume, Congenital thrombocytopenia, Intermittent thrombocytopenia OMIM:313900
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Hemolytic anemia, B lymphocytopenia, Decreased proportion of CD4+CD25+ regulatory T cells, Hepato... OMIM:606367
Hypocomplementemic Urticarial Vasculitis
Hepatomegaly, Autoimmunity, Lymphadenopathy, Hematuria, Splenomegaly, Glomerulopathy, Proteinuria... ORPHA:36412
Multicentric Carpotarsal Osteolysis Syndrome
Proteinuria, Renal insufficiency, Nephropathy OMIM:166300
Hereditary Amyloidosis With Primary Renal Involvement
Renal tubular atrophy, Hepatomegaly, Tubulointerstitial nephritis, Nephrotic syndrome, Lymphadeno... ORPHA:85450
Progressive Multifocal Leukoencephalopathy
Meningitis, Decreased proportion of CD8-positive T cells, Abnormal proportion of CD4-positive T c... ORPHA:217260
Glycogen Storage Disease Vii
Cholelithiasis, Exercise-induced myoglobinuria, Reticulocytosis, Reduced erythrocyte 2,3-diphosph... OMIM:232800
Cryoglobulinemic Vasculitis
Hepatomegaly, Mediastinal lymphadenopathy, Hematuria, Splenomegaly, Abnormality of the liver, Glo... ORPHA:91138
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Recurrent infections, Ulcerative colitis, Interstitial pneumonitis, Bronchiolitis OMIM:614878
Proteinuria, Chronic Benign
Albuminuria, Proteinuria OMIM:618884
Wilson Disease
Hemolytic anemia, Hyperphosphaturia, Hepatomegaly, Renal tubular dysfunction, Aminoaciduria, Hepa... OMIM:277900
Beta-Thalassemia Intermedia
Leukocytosis, Abnormality of iron homeostasis, Adrenal insufficiency, Hypoparathyroidism, Erythro... ORPHA:231222
Gaucher Disease Type 1
Hepatomegaly, Leukopenia, Biliary tract obstruction, Hematuria, Anemia, Splenomegaly, Cirrhosis, ... ORPHA:77259
Galloway-Mowat Syndrome 7
Renal tubular atrophy, Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Nep... OMIM:618348
Immunodeficiency 58
Eczema, Chronic bronchitis, Allergic rhinitis, Chronic pulmonary obstruction, Helicobacter pylori... OMIM:618131
Thrombotic Thrombocytopenic Purpura, Hereditary
Schistocytosis, Microangiopathic hemolytic anemia, Abnormal renal physiology, Hemolytic-uremic sy... OMIM:274150
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Myoglobinuria, Decreased hemoglobin concentration, Reticulocytosis, Hemolytic anemia, Renal insuf... ORPHA:713
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Recurrent E. coli infections, Eczematoid dermatitis, Lymphadenitis, Discoid lupus rash, Recurrent... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Recurrent E. coli infections, Eczematoid dermatitis, Lymphadenitis, Discoid lupus rash, Recurrent... OMIM:233710
Coenzyme Q10 Deficiency, Primary, 1
Nephrotic syndrome, Glomerular sclerosis, Anemia, Pancytopenia, Recurrent myoglobinuria OMIM:607426
Fanconi Renotubular Syndrome 5
Tubulointerstitial fibrosis, Stage 5 chronic kidney disease, Glycosuria, Aminoaciduria, Proteinuria OMIM:618913
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Sepsis, Eczema, Neutropenia, Tubulointerstitial nephritis, Neutropenia in presence of anti-neutro... ORPHA:37042
Igg4-Related Kidney Disease
Tubulointerstitial nephritis, Lymphadenopathy, Antinuclear antibody positivity, Rheumatoid factor... ORPHA:449395
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Autoimmunity, Anemia, Splenomegaly, Pancytopenia, Hemophagocytosis OMIM:618398
Diamond-Blackfan Anemia 5
Macrocytic anemia, Reticulocytopenia, Leukopenia, Erythroid hypoplasia OMIM:612528
Immunodeficiency 14B, Autosomal Recessive
Thrombocytosis, Leukocytosis, B lymphocytopenia, Monocytosis, Neutrophilia OMIM:619281
Alagille Syndrome 2
Renal hypoplasia, Renal tubular acidosis, Hematuria, Renal cyst, Cholestatic liver disease, Chole... OMIM:610205
Immunodeficiency 70
B lymphocytopenia, Furuncle, Decreased proportion of CD4-positive helper T cells, Colitis, Recurr... OMIM:618969
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hypochromia, Type II diabetes mellitus, Erythroid hyperplasia, Elevated hepatic iron concentratio... OMIM:616860
Mixed-Type Autoimmune Hemolytic Anemia
Autoimmunity, Systemic lupus erythematosus, Abnormal urinary color, Autoimmune hemolytic anemia ORPHA:90036
Imerslund-Gräsbeck Syndrome
Macrocytic anemia, Anisopoikilocytosis, Neutropenia, Oval macrocytosis, Abnormal hemoglobin conce... ORPHA:35858
X-Linked Centronuclear Myopathy
Respiratory distress, Recurrent respiratory infections, Respiratory failure requiring assisted ve... ORPHA:596
Simple Cryoglobulinemia
Chronic lymphatic leukemia, Nephrotic syndrome, Nephritis, Rheumatoid factor positive, Mesangial ... ORPHA:91139
Frasier Syndrome
Focal segmental glomerulosclerosis, Nephrotic syndrome, Glomerulopathy, Nephroblastoma, Proteinur... ORPHA:347
Acute Panmyelosis With Myelofibrosis
Acute myelomonocytic leukemia, Bone marrow hypocellularity, Splenomegaly, Acute myeloid leukemia,... ORPHA:86843
Aicardi-Goutieres Syndrome 9
Portal hypertension, Hemolytic anemia, Hepatomegaly, Hepatic fibrosis, Glomerular sclerosis, Stag... OMIM:619487
Leukocyte Adhesion Deficiency
Sinusitis, Sepsis, Recurrent staphylococcal infections, Conjunctivitis, Leukocytosis, Polycythemi... ORPHA:2968
Immunodeficiency 82 With Systemic Inflammation
B lymphocytopenia, Decreased proportion of naive T cells, Elevated circulating C-reactive protein... OMIM:619381
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Hyperphosphaturia, Renal Fanconi syndrome, Renal tubular dysfunction, Hepatomegaly, Anemia, Incre... OMIM:220110
Combined Oxidative Phosphorylation Deficiency 51
Respiratory failure, Neonatal respiratory distress, Aspiration pneumonia OMIM:619057
Hemochromatosis, Type 4
Increased circulating ferritin concentration, Anemia, Elevated transferrin saturation, Diabetes m... OMIM:606069
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Thrombocytopenia, Increased mean platelet volume, Abnormality of the endocrine system ORPHA:487796
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hyperphosphaturia, Hepatomegaly, Nephrocalcinosis, Glycosuria, Aminoaciduria, Proteinuria OMIM:616026
Ohdo Syndrome
Proteinuria OMIM:249620
Nocardiosis
Brain abscess, Sepsis, Pleuritis, Unusual CNS infection, Respiratory failure, Emphysema, Conjunct... ORPHA:31204
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Hyperphosphaturia, Renal Fanconi syndrome, Renal tubular dysfunction, Hepatomegaly, Anemia, Glyco... ORPHA:436271
Surfactant Metabolism Dysfunction, Pulmonary, 3
Neonatal respiratory distress, Desquamative interstitial pneumonitis, Nonspecific interstitial pn... OMIM:610921
Glycogen Storage Disease Ib
Hepatomegaly, Focal segmental glomerulosclerosis, Neutropenia, Hepatocellular carcinoma, Decrease... OMIM:232220
Familial Mediterranean Fever, Autosomal Dominant
Proteinuria, Renal insufficiency, Renal amyloidosis, Peritonitis OMIM:134610
Good Syndrome
Sinusitis, Bronchiectasis, Anemia, Cough, Recurrent urinary tract infections, Dyspnea, Recurrent ... ORPHA:169105
Ataxia-Telangiectasia
Leukemia, Hypoplasia of the thymus, Elevated alpha-fetoprotein, Decreased proportion of CD4-posit... OMIM:208900
Bronchogenic Cyst
Chronic infection, Pneumonia, Bronchogenic cyst, Cough, Pulmonary cyst, Abnormal pleura morpholog... ORPHA:2357
Free Sialic Acid Storage Disease
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