Gene Summary

Name:
cytochrome b-245, beta polypeptide
Synonyms:
gp91phox gp91phox,  Nox2,  Cgd

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
increased spleen weight Cybbtm2b(KOMP)Wtsi HOM   Early adult 1.76×10-05
decreased mean corpuscular volume Cybbtm2b(KOMP)Wtsi HOM   Early adult 4.03×10-06

Download data as:  TSV  XLS

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Viewing: all phenotypes

lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Brain  Wholemount images heterozygote 100% (1 of 1)
Brainstem  Wholemount images heterozygote 100% (1 of 1)
Cerebellum  Wholemount images heterozygote 100% (1 of 1)
Adrenal gland N/A hemizygote 0.0% (0 of 1)
Adrenal gland N/A heterozygote 0.0% (0 of 1)
Aorta N/A hemizygote 0.0% (0 of 1)
Aorta N/A heterozygote 0.0% (0 of 1)
Bone N/A hemizygote 0.0% (0 of 1)
Bone N/A heterozygote 0.0% (0 of 1)
Brain N/A hemizygote 0.0% (0 of 1)
Brainstem N/A hemizygote 0.0% (0 of 1)
Brown adipose tissue N/A hemizygote 0.0% (0 of 1)
Brown adipose tissue N/A heterozygote 0.0% (0 of 1)
Cartilage tissue N/A hemizygote 0.0% (0 of 1)
Cartilage tissue N/A heterozygote 0.0% (0 of 1)
Cerebellum N/A hemizygote 0.0% (0 of 1)
Cerebral cortex N/A hemizygote 0.0% (0 of 1)
Cerebral cortex N/A heterozygote 0.0% (0 of 1)
Esophagus N/A hemizygote 0.0% (0 of 1)
Esophagus N/A heterozygote 0.0% (0 of 1)
Eye N/A hemizygote 0.0% (0 of 1)
Eye N/A heterozygote 0.0% (0 of 1)
Gall bladder N/A hemizygote 0.0% (0 of 1)
Gall bladder N/A heterozygote 0.0% (0 of 1)
Heart N/A hemizygote 0.0% (0 of 1)
Heart N/A heterozygote 0.0% (0 of 1)
Hippocampus N/A hemizygote 0.0% (0 of 1)
Hippocampus N/A heterozygote 0.0% (0 of 1)
Hypothalamus N/A hemizygote 0.0% (0 of 1)
Hypothalamus N/A heterozygote 0.0% (0 of 1)
N/A Ambiguous
Kidney N/A heterozygote 0.0% (0 of 1)
Large intestine N/A hemizygote 0.0% (0 of 1)
Large intestine N/A heterozygote 0.0% (0 of 1)
Liver N/A hemizygote 0.0% (0 of 1)
Liver N/A heterozygote 0.0% (0 of 1)
Lower urinary tract N/A hemizygote 0.0% (0 of 1)
Lower urinary tract N/A heterozygote 0.0% (0 of 1)
Lung N/A hemizygote 0.0% (0 of 1)
Lung N/A heterozygote 0.0% (0 of 1)
Lymph node N/A hemizygote 0.0% (0 of 1)
Lymph node N/A heterozygote 0.0% (0 of 1)
Mammary gland N/A hemizygote Not available
Mammary gland N/A heterozygote 0.0% (0 of 1)
Olfactory lobe N/A hemizygote 0.0% (0 of 1)
Olfactory lobe N/A heterozygote 0.0% (0 of 1)
Oral epithelium N/A hemizygote 0.0% (0 of 1)
Oral epithelium N/A heterozygote 0.0% (0 of 1)
Ovary N/A hemizygote Not available
Ovary N/A heterozygote 0.0% (0 of 1)
Oviduct N/A hemizygote Not available
Oviduct N/A heterozygote 0.0% (0 of 1)
Pancreas N/A hemizygote 0.0% (0 of 1)
Pancreas N/A heterozygote 0.0% (0 of 1)
Parathyroid gland N/A hemizygote 0.0% (0 of 1)
Parathyroid gland N/A heterozygote 0.0% (0 of 1)
Peripheral nervous system N/A hemizygote 0.0% (0 of 1)
Peripheral nervous system N/A heterozygote 0.0% (0 of 1)
Peyer's patch N/A hemizygote 0.0% (0 of 1)
Peyer's patch N/A heterozygote 0.0% (0 of 1)
Pituitary gland N/A hemizygote 0.0% (0 of 1)
Pituitary gland N/A heterozygote 0.0% (0 of 1)
Prostate gland N/A hemizygote 0.0% (0 of 1)
Prostate gland N/A heterozygote Not available
Skeletal muscle N/A hemizygote 0.0% (0 of 1)
Skeletal muscle N/A heterozygote 0.0% (0 of 1)
Skin N/A hemizygote 0.0% (0 of 1)
Skin N/A heterozygote 0.0% (0 of 1)
Small intestine N/A hemizygote 0.0% (0 of 1)
Small intestine N/A heterozygote 0.0% (0 of 1)
Spinal cord N/A hemizygote 0.0% (0 of 1)
Spinal cord N/A heterozygote 0.0% (0 of 1)
Spleen N/A hemizygote 0.0% (0 of 1)
Spleen N/A heterozygote 0.0% (0 of 1)
Stomach N/A hemizygote 0.0% (0 of 1)
Stomach N/A heterozygote 0.0% (0 of 1)
Striatum N/A hemizygote 0.0% (0 of 1)
Striatum N/A heterozygote 0.0% (0 of 1)
Testis N/A hemizygote 0.0% (0 of 1)
Testis N/A heterozygote Not available
Thymus N/A hemizygote 0.0% (0 of 1)
Thymus N/A heterozygote 0.0% (0 of 1)
Thyroid gland N/A hemizygote 0.0% (0 of 1)
Thyroid gland N/A heterozygote 0.0% (0 of 1)
Trachea N/A hemizygote 0.0% (0 of 1)
Trachea N/A heterozygote 0.0% (0 of 1)
Uterus N/A hemizygote Not available
Uterus N/A heterozygote 0.0% (0 of 1)
Vascular system N/A hemizygote 0.0% (0 of 1)
Vascular system N/A heterozygote 0.0% (0 of 1)
White adipose tissue N/A hemizygote 0.0% (0 of 1)
White adipose tissue N/A heterozygote 0.0% (0 of 1)

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Brain N/A hemizygote 0.0% (0 of 1)
Brain N/A heterozygote 0.0% (0 of 1)
Brain N/A homozygote 0.0% (0 of 1)
Ear N/A hemizygote 0.0% (0 of 1)
Ear N/A heterozygote Not available
Ear N/A homozygote 0.0% (0 of 1)
Embryo N/A hemizygote 0.0% (0 of 1)
Embryo N/A heterozygote 0.0% (0 of 1)
Embryo N/A homozygote 0.0% (0 of 1)
Eye N/A hemizygote 0.0% (0 of 1)
Eye N/A heterozygote 0.0% (0 of 1)
Eye N/A homozygote 0.0% (0 of 1)
Footplate N/A hemizygote 0.0% (0 of 1)
Footplate N/A heterozygote 0.0% (0 of 1)
Footplate N/A homozygote 0.0% (0 of 1)
Forebrain N/A hemizygote 0.0% (0 of 1)
Forebrain N/A heterozygote 0.0% (0 of 1)
Forebrain N/A homozygote 0.0% (0 of 1)
Forelimb N/A hemizygote 0.0% (0 of 1)
Forelimb N/A heterozygote 0.0% (0 of 1)
Forelimb N/A homozygote 0.0% (0 of 1)
Handplate N/A hemizygote 0.0% (0 of 1)
Handplate N/A heterozygote 0.0% (0 of 1)
Handplate N/A homozygote 0.0% (0 of 1)
Head N/A hemizygote 0.0% (0 of 1)
Head N/A heterozygote 0.0% (0 of 1)
Head N/A homozygote 0.0% (0 of 1)
Heart N/A hemizygote 0.0% (0 of 1)
Heart N/A heterozygote Not available
Heart N/A homozygote 0.0% (0 of 1)
Hindbrain N/A hemizygote 0.0% (0 of 1)
Hindbrain N/A heterozygote 0.0% (0 of 1)
Hindbrain N/A homozygote 0.0% (0 of 1)
Hindlimb N/A hemizygote 0.0% (0 of 1)
Hindlimb N/A heterozygote 0.0% (0 of 1)
Hindlimb N/A homozygote 0.0% (0 of 1)
Liver N/A hemizygote 0.0% (0 of 1)
Liver N/A heterozygote 0.0% (0 of 1)
Liver N/A homozygote 0.0% (0 of 1)
Lung N/A hemizygote 0.0% (0 of 1)
Lung N/A heterozygote Not available
Lung N/A homozygote 0.0% (0 of 1)
Mandibular process N/A hemizygote 0.0% (0 of 1)
Mandibular process N/A heterozygote 0.0% (0 of 1)
Mandibular process N/A homozygote 0.0% (0 of 1)
Maxillary process N/A hemizygote 0.0% (0 of 1)
Maxillary process N/A heterozygote Not available
Maxillary process N/A homozygote 0.0% (0 of 1)
Midbrain N/A hemizygote 0.0% (0 of 1)
Midbrain N/A heterozygote 0.0% (0 of 1)
Midbrain N/A homozygote 0.0% (0 of 1)
Oral cavity N/A hemizygote 0.0% (0 of 1)
Oral cavity N/A heterozygote Not available
Oral cavity N/A homozygote 0.0% (0 of 1)
Skin N/A hemizygote 0.0% (0 of 1)
Skin N/A heterozygote 0.0% (0 of 1)
Skin N/A homozygote 0.0% (0 of 1)
Tail somite N/A hemizygote 0.0% (0 of 1)
Tail somite N/A heterozygote 0.0% (0 of 1)
Tail somite N/A homozygote 0.0% (0 of 1)
Tail N/A hemizygote 0.0% (0 of 1)
Tail N/A heterozygote 0.0% (0 of 1)
Tail N/A homozygote 0.0% (0 of 1)

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.68% (4 of 584)
aorta 0.17% (1 of 584)
bone 0.0%
brain 0.68% (4 of 584)
brainstem 0.34% (2 of 584)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 584)
cerebellum 0.51% (3 of 584)
cerebral cortex 0.34% (2 of 584)
esophagus 1.72% (7 of 408)
eye 0.0%
gall bladder 0.0%
heart 0.34% (2 of 584)
hippocampus 0.51% (3 of 584)
hypothalamus 0.34% (2 of 584)
kidney 3.6% (21 of 584)
large intestine 1.71% (10 of 584)
liver 0.0%
lower urinary tract 0.17% (1 of 584)
lung 0.34% (2 of 584)
lymph node 0.17% (1 of 584)
mammary gland 0.0%
olfactory lobe 0.34% (2 of 584)
oral epithelium 0.0%
ovary 0.17% (1 of 584)
oviduct 0.0%
pancreas 0.86% (5 of 584)
parathyroid gland 0.18% (1 of 562)
peripheral nervous system 0.34% (2 of 584)
peyers patch 0.0%
pituitary gland 0.17% (1 of 584)
prostate gland 2.05% (12 of 584)
skeletal muscle 0.0%
skin 0.17% (1 of 584)
small intestine 1.54% (9 of 584)
spinal cord 0.51% (3 of 584)
spleen 0.51% (3 of 584)
stomach 2.05% (12 of 584)
striatum 0.51% (3 of 584)
testis 1.03% (6 of 584)
thymus 0.17% (1 of 584)
thyroid gland 2.74% (16 of 584)
trachea 0.51% (3 of 584)
uterus 0.0%
vascular system 0.0%
white adipose tissue 0.0%

Background staining occurs in wild type mice and embryos at an incidental rate.

Background staining occurs in wild type embryos at a measurable rate.

Anatomy Background staining in controls(WT)
brain 1.18% (6 of 507)
ear 0.2% (1 of 507)
embryo 0.2% (1 of 508)
eye 0.2% (1 of 507)
footplate 0.2% (1 of 507)
forebrain 0.2% (1 of 507)
forelimb 0.2% (1 of 507)
handplate 0.2% (1 of 507)
head 0.99% (5 of 507)
heart 0.2% (1 of 507)
hindbrain 1.18% (6 of 507)
hindlimb 0.2% (1 of 507)
liver 0.2% (1 of 502)
lung 0.2% (1 of 502)
mandibular process 0.2% (1 of 507)
maxillary process 0.2% (1 of 507)
midbrain 0.2% (1 of 507)
oral cavity 0.2% (1 of 502)
skin 0.2% (1 of 507)
tail 0.2% (1 of 507)
tail somite group 0.2% (1 of 507)

Associated Images

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

X-ray

XRay Images Skull Dorso Ventral Orientation

11 Images

X-ray

XRay Images Whole Body Dorso Ventral

11 Images

Echo

M-Mode Images

28 Images

X-ray

XRay Images Whole Body Lateral Orientation

11 Images

Embryo LacZ

LacZ images wholemount

12 Images

Adult LacZ

LacZ Images Wholemount

3 Images

Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

4 Images

Immunophenotyping

Panel B FCS file(s)

8 Images

Immunophenotyping

Panel A FCS file(s)

8 Images

Human diseases caused by Cybb 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 Cybb by orthology or direct annotation.

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Methemoglobin Reductase Deficiency
Abnormal erythrocyte morphology OMIM:250700
Atr-16 syndrome
Abnormal erythrocyte morphology DECIPHER:65
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Podocyte foot process effacement, Proteinuria, Autoimmunity, Increased CD4:CD8 ratio, Impaired ly... OMIM:617006
Diamond-Blackfan Anemia-Like
Pure red cell aplasia, Steroid-responsive anemia OMIM:617911
Diamond-Blackfan Anemia 19
Erythroid hypoplasia, Anemia, Steroid-responsive anemia OMIM:618312
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Autoimmune hemolytic anemia, Increased circulating antibody level, Lymphopenia, Plasmacytosis, Pn... OMIM:247800
Hemoglobin H Disease
Hemolytic anemia, Hepatomegaly, HbH hemoglobin, Splenomegaly, Reduced alpha/beta synthesis ratio OMIM:613978
Mannose-Binding Lectin Deficiency
Recurrent herpes, Disseminated cryptosporidium infection, Recurrent Klebsiella infections, Recurr... OMIM:614372
Polyposis of gastric fundus without polyposis coli
Multiple gastric polyps, Abnormality of the gastric mucosa OMIM:175505
C3 Glomerulopathy
Hematuria, Acute kidney injury, Autoimmunity, Elevated circulating creatinine concentration, Decr... ORPHA:329918
Adenine Phosphoribosyltransferase Deficiency
Dysuria, Acute kidney injury, Urinary hesitancy, Uric acid nephrolithiasis, Atrial fibrillation, ... ORPHA:976
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231242
Fetal Cytomegalovirus Syndrome
Hepatomegaly, Anemia, Splenomegaly ORPHA:294
Transient Erythroblastopenia Of Childhood
Transient erythroblastopenia, Anemia OMIM:227050
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of memory ... OMIM:615559
Agammaglobulinemia 3, Autosomal Recessive
Recurrent bronchitis, Recurrent otitis media, Neutropenia, Agammaglobulinemia, Failure to thrive,... OMIM:613501
Ras-Associated Autoimmune Leukoproliferative Disorder
Lymphocytosis, Monocytosis, Hemolytic anemia, Autoimmune thrombocytopenia, Autoimmunity, Increase... OMIM:614470
Immunodeficiency, Common Variable, 6
Autoimmune thrombocytopenia, Enlarged kidney, Nephrotic range proteinuria, Mesangial Immune compl... OMIM:613496
Specific Granule Deficiency 1
Absent neutrophil specific granules, Increased neutrophil mitochondria, Increased neutrophil ribo... OMIM:245480
Idiopathic Non-Lupus Full-House Nephropathy
Skin rash, Acute kidney injury, Elevated circulating creatinine concentration, Decreased serum co... ORPHA:567544
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Recurrent otitis media, Neutropenia, Failure to thrive, Recurrent bacterial infections, Recurrent... OMIM:616022
Agammaglobulinemia 2, Autosomal Recessive
Recurrent pneumonia, Meningitis, Agammaglobulinemia, Recurrent bacterial infections, Recurrent re... OMIM:613500
Immunodeficiency 64
Abnormal CD4:CD8 ratio, Anti-thyroid peroxidase antibody positivity, Anti-thyroglobulin antibody ... OMIM:618534
Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive
Hypochromia, Pyridoxine-responsive sideroblastic anemia, Sideroblastic anemia, Decreased mean cor... OMIM:206000
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Abnormality of T cell physiology, Recurrent protozoan infections, Recurrent viral infections, Rec... OMIM:308220
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Hepatomegaly, Anemia, Persistence of hemoglobin F, Splenomegaly ORPHA:46532
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Immunodeficiency 61
Recurrent otitis media, Recurrent sinusitis, Obesity, Agammaglobulinemia, Recurrent bacterial inf... OMIM:300310
Immunodeficiency 51
Folliculitis, Pustule, Cutaneous abscess, Recurrent bronchitis, Chronic oral candidiasis, Recurre... OMIM:613953
Autoimmune Lymphoproliferative Syndrome
Iron deficiency anemia, Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory ... OMIM:601859
Immunodeficiency 24
Partial absence of specific antibody response to tetanus vaccine, Defective T cell proliferation,... OMIM:615897
C1Q Deficiency
Autoimmunity, Membranoproliferative glomerulonephritis, Systemic lupus erythematosus, Decreased s... OMIM:613652
Immunodeficiency 27A
Thrombocytosis, Increased circulating IgM level, Increased inflammatory response, Leukocytosis, S... OMIM:209950
Anemia, Sideroblastic, 4
Sideroblastic anemia, Abnormal erythrocyte morphology OMIM:182170
Drug-Induced Lupus Erythematosus
Serositis, Hematuria, Increased blood urea nitrogen, Pericarditis, Decreased serum complement C4,... ORPHA:231111
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Atrial septal defect, Abnormal heart morphology, Decreased circulating antibody level, Recurrent ... OMIM:617744
Dehydrated Hereditary Stomatocytosis 2
Hemolytic anemia, Increased mean corpuscular hemoglobin concentration, Reticulocytosis, Anisopoik... OMIM:616689
Granulomatous disease with defect in neutrophil chemotaxis
Impaired neutrophil killing of staphylococci, Recurrent staphylococcal infections OMIM:233670
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Nonspherocytic hemolytic anemia, Jaundice, Splenomegaly OMIM:206400
Tubulointerstitial Nephritis With Uveitis
Panuveitis, Elevated circulating creatinine concentration, Reversible renal failure, Uveitis, Cir... OMIM:607665
Autoimmune Lymphoproliferative Syndrome, Type Iia
Increased circulating IgG level, Increased B cell count, Eosinophilia, Iron deficiency anemia, In... OMIM:603909
Myelolymphatic Insufficiency
Hyposegmentation of neutrophil nuclei, Recurrent viral infections, Leukopenia, Recurrent bacteria... OMIM:310350
Immunodeficiency 14B, Autosomal Recessive
Inflammation of the large intestine, Monocytosis, Thrombocytosis, Leukocytosis, Decreased circula... OMIM:619281
Primary Membranoproliferative Glomerulonephritis
Glomerular subendothelial electron-dense deposits, Acute kidney injury, Microscopic hematuria, Ch... ORPHA:54370
Preeclampsia
Acute kidney injury, Autoimmunity, Elevated circulating creatinine concentration, Thrombocytopeni... ORPHA:275555
Complement Component 3 Deficiency, Autosomal Recessive
Systemic lupus erythematosus, Membranoproliferative glomerulonephritis, Nephrotic syndrome, Renal... OMIM:613779
Immunodeficiency 16
Coombs-positive hemolytic anemia, Pancytopenia, Splenomegaly OMIM:615593
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
T lymphocytopenia, Recurrent candida infections, Decreased circulating IgG level, Recurrent bacte... OMIM:242870
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Thrombocytopenia, Abnormal hemoglobin, Anemia, Splenomegaly ORPHA:231393
Cardiogenic Shock
Low pulse pressure, Right ventricular failure, Hypotension, Elevated circulating creatinine conce... ORPHA:97292
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations
Atrial septal defect, Recurrent fungal infections, Lymphopenia, Recurrent viral infections, Neutr... OMIM:614868
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Autoimmune hemolytic anemia, Increased circulating antibody level, Autoimmunity, Recurrent otitis... OMIM:618495
Histiocytosis, Familial Lipochrome
Histiocytosis, Increased circulating antibody level, Increased alpha-globulin OMIM:235900
Immunodeficiency 25
T lymphocytopenia, Recurrent pneumonia, Increased circulating IgM level, Increased circulating Ig... OMIM:610163
Systemic Capillary Leak Syndrome
Abnormal renal tubule morphology, Arrhythmia, Pericarditis, Hypotension, Weight loss, Oliguria, M... ORPHA:188
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Congenital agranulocytosis, Monocytosis, Thrombocytosis, Acute monocytic leukemia, Increased circ... OMIM:202700
Immunodeficiency, Common Variable, 5
Chronic decreased circulating total IgG, Recurrent respiratory infections, Recurrent bacterial in... OMIM:613495
Igg4-Related Aortitis
Increased circulating IgE level, Increased inflammatory response, Autoimmunity, Increased circula... ORPHA:449400
Hemorrhagic Fever-Renal Syndrome
Abnormal renal tubule morphology, Hypoproteinemia, Arrhythmia, Gastrointestinal hemorrhage, Intra... ORPHA:340
Nephrotic Syndrome, Type 15
Hypoalbuminemia, Stage 5 chronic kidney disease, Nephrotic syndrome, Minimal change glomeruloneph... OMIM:617609
Carnitine-Acylcarnitine Translocase Deficiency
Decreased plasma carnitine, Arrhythmia, Hypotension, Rhabdomyolysis, Ventricular tachycardia, Ele... ORPHA:159
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Thrombocytopenia, Acute myeloid leukemia, Increased mean corpuscular volume OMIM:252270
Agammaglobulinemia 1, Autosomal Recessive
Bronchiectasis, Decreased circulating antibody level, Recurrent otitis media, Recurrent sinusitis... OMIM:601495
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive
Atopic dermatitis, Recurrent fungal infections, Subarachnoid hemorrhage, Recurrent viral infectio... OMIM:243700
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Monocytosis, Systemic lupus erythematosus, Acute myeloid leukemia, Leukopenia, Refractory anemia,... OMIM:616871
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Increased circulating IgM level, Autoimmune thrombocytopenia, Bronchiectasis, Autoimmune hemolyti... OMIM:619220
Hyperbilirubinemia, Shunt, Primary
Reticulocytosis, Erythroid hyperplasia, Hepatomegaly, Jaundice, Anemia of inadequate production, ... OMIM:237800
Agammaglobulinemia 4, Autosomal Recessive
Chronic sinusitis, Recurrent otitis media, Neutropenia, Agammaglobulinemia, Recurrent pneumonia, ... OMIM:613502
Reticuloendotheliosis, X-Linked
Jaundice, Hepatosplenomegaly, Anemia, Lymphadenopathy OMIM:312500
Autoimmune Interstitial Lung, Joint, And Kidney Disease
Elevated circulating C-reactive protein concentration, Mesangial hypercellularity, Crescentic glo... OMIM:616414
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Decreased proportion of class-switched memory B cells, Coombs-positive hemolytic anemia, Systemic... OMIM:619375
Diffuse Alveolar Hemorrhage
Hematuria, Antineutrophil antibody positivity, Leukocytosis, Autoimmunity, Elevated circulating c... ORPHA:90060
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Thrombocytopenia, Glomerulonephritis, Hematuria, Increased circulating IgA level OMIM:314000
Immunodeficiency 31B
Herpes simplex encephalitis, Recurrent mycobacterial infections, Recurrent viral infections OMIM:613796
Lysine Malabsorption Syndrome
Renal tubular lysine transport defect, Hyperlysinuria OMIM:247950
Renal Failure, Progressive, With Hypertension
Elevated circulating creatinine concentration, Microscopic hematuria, Stage 5 chronic kidney dise... OMIM:161900
Erythroleukemia, Familial, Susceptibility To
Erythroid hyperplasia, Thrombocytopenia, Acute myeloid leukemia, Hepatomegaly, Anemia, Splenomega... OMIM:133180
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Neutropenia, Recurrent streptococcus pneumoniae infections, Recurrent staphylococcal infections, ... ORPHA:70592
Lipodystrophy, Partial, Acquired, Susceptibility To
Hematuria, Abnormal circulating lipid concentration, Membranoproliferative glomerulonephritis, Ne... OMIM:608709
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Hematuria, Acute kidney injury, Increased blood urea nitrogen, Anuria, Elevated circulating creat... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Hematuria, Acute kidney injury, Increased blood urea nitrogen, Anuria, Elevated circulating creat... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Hematuria, Acute kidney injury, Increased blood urea nitrogen, Anuria, Elevated circulating creat... OMIM:612925
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Hematuria, Acute kidney injury, Increased blood urea nitrogen, Anuria, Elevated circulating creat... OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Hematuria, Acute kidney injury, Increased blood urea nitrogen, Anuria, Elevated circulating creat... OMIM:612926
Agammaglobulinemia 6, Autosomal Recessive
Chronic sinusitis, Recurrent bronchitis, Recurrent otitis media, Conjunctivitis, Agammaglobulinem... OMIM:612692
Heinz Body Anemias
Nonspherocytic hemolytic anemia, Heinz body anemia, Heinz bodies OMIM:140700
Hyperprolinemia Type 1
Hyperprolinemia, Prolinuria, Nephropathy, Proteinuria ORPHA:419
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Coombs-positive hemolytic anemia, Increased circulating IgE level, Autoimmune thrombocytopenia, E... OMIM:304790
Colchicine Poisoning
Cardiogenic shock, Hypocalcemia, Hypophosphatemia, Arrhythmia, Hypovolemia, Hypotension, Hyponatr... ORPHA:31824
Nephrotic Syndrome, Type 7
Hemolytic anemia, Acute kidney injury, Thrombocytopenia, Glomerulonephritis, Hemolytic-uremic syn... OMIM:615008
Anemia, Hypochromic Microcytic, With Iron Overload 1
Hypochromia, Decreased mean corpuscular volume, Abnormality of the liver, Anemia OMIM:206100
Complement Component 7 Deficiency
Recurrent meningococcal disease, Recurrent Neisserial infections OMIM:610102
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Hepatomegaly, Splenomegaly ORPHA:2274
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly OMIM:183350
Hypercalcemia, Infantile, 2
Hypophosphatemia, Renal phosphate wasting, Polyuria, Hypercalciuria, Hypercalcemia, Failure to th... OMIM:616963
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Lymphocytosis, T lymphocytopenia, Increased circulating IgE level, Decreased proportion of CD8-po... ORPHA:169154
Cryohydrocytosis
Reticulocytosis, Hemolytic anemia, Stomatocytosis, Splenomegaly OMIM:185020
Systemic Lupus Erythematosus
Nephritis, Systemic lupus erythematosus, Hemolytic anemia, Pericarditis, Thrombocytopenia, Lupus ... OMIM:152700
Interstitial Nephritis, Karyomegalic
Nephronophthisis, Hematuria, Increased blood urea nitrogen, Elevated circulating creatinine conce... OMIM:614817
Yellow Fever
Arrhythmia, Gastrointestinal hemorrhage, Hypotension, Nephropathy, Oliguria, Congestive heart fai... ORPHA:99829
Immunodeficiency, Common Variable, 4
Recurrent pneumonia, Complete or near-complete absence of specific antibody response to unconjuga... OMIM:613494
Specific Granule Deficiency 2
Recurrent pneumonia, Absent neutrophil specific granules, Recurrent otitis media, Neutropenia, Th... OMIM:617475
Immunodeficiency With Hyper-Igm, Type 2
Recurrent upper and lower respiratory tract infections, Decreased circulating IgA level, Recurren... OMIM:605258
Igg4-Related Kidney Disease
Increased circulating IgG1 level, Hematuria, Acute kidney injury, Pericarditis, Interstitial pneu... ORPHA:449395
Acquired Partial Lipodystrophy
Lymphocytosis, Autoimmunity, Glomerulopathy, Microscopic hematuria, Decreased serum complement C3... ORPHA:79087
Igg4-Related Retroperitoneal Fibrosis
Hematuria, Acute kidney injury, Elevated circulating creatinine concentration, Weight loss, Eleva... ORPHA:49041
Immunodeficiency, Common Variable, 3
Decreased proportion of class-switched memory B cells, Decreased circulating total IgM, Recurrent... OMIM:613493
Complement Component 4A Deficiency
Glomerulonephritis, Complement deficiency, Systemic lupus erythematosus OMIM:614380
Immunodeficiency, Common Variable, 1
Decreased proportion of class-switched memory B cells, Recurrent bronchitis, Bronchiectasis, Recu... OMIM:607594
Autoimmune Hepatitis
Increased total bilirubin, Inflammation of the large intestine, Acute hepatitis, Antineutrophil a... ORPHA:2137
Sea-Blue Histiocyte Disease
Thrombocytopenia, Cirrhosis, Sea-blue histiocytosis, Splenomegaly OMIM:269600
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Neutropenia, Thrombocytopenia, Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpu... OMIM:619041
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
T lymphocytopenia, Anti-thyroid peroxidase antibody positivity, Increased circulating IgE level, ... ORPHA:277
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Recurrent opportunistic infections, Skin rash, Chronic oral candidiasis, Recurrent gastroenteriti... ORPHA:275
Autoimmune Lymphoproliferative Syndrome
Lymphocytosis, Abnormal proportion of CD4-positive T cells, Abnormal serum interleukin level, Dec... ORPHA:3261
Immunodeficiency By Defective Expression Of Mhc Class Ii
Skin rash, Recurrent Staphylococcus aureus infections, Decreased proportion of CD4-positive helpe... ORPHA:572
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency
Tegumentary leishmaniasis susceptibility, BCGosis, Severe toxoplasmosis, Lymphadenitis, Histoplas... ORPHA:319552
Microscopic Polyangiitis
Renal insufficiency, Arrhythmia, Hematuria, Pericarditis, Gastrointestinal hemorrhage, Epistaxis,... ORPHA:727
Diffuse Cutaneous Systemic Sclerosis
Flexion contracture, Hypertensive crisis, Telangiectasia of the skin, Oliguria, Congestive heart ... ORPHA:220393
Apolipoprotein A-I Deficiency
Lymphadenopathy, Abnormality of the liver, Anemia, Splenomegaly ORPHA:425
Pgm3-Cdg
Cutaneous abscess, Bronchiectasis, Decreased proportion of CD4-positive helper T cells, Neutropen... ORPHA:443811
Diamond-Blackfan Anemia 3
Increased mean corpuscular volume, Macrocytic anemia, Persistence of hemoglobin F, Reticulocytopenia OMIM:610629
Immunodeficiency 34
Severe recurrent varicella, Recurrent mycobacterial infections OMIM:300645
Immunodeficiency 30
Recurrent infections, Recurrent mycobacterial infections OMIM:614891
Autoinflammation With Arthritis And Dyskeratosis
Autoimmune hemolytic anemia, Increased circulating IgA level, Thyroiditis, Uveitis, Punctate kera... OMIM:617388
Nephrotic Syndrome, Type 23
Podocyte foot process effacement, Steroid-resistant nephrotic syndrome, Focal segmental glomerulo... OMIM:619201
Immunodeficiency 35
Increased circulating IgE level, Recurrent fungal infections, Recurrent viral infections, Recurre... OMIM:611521
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Recurrent Aspergillus infections, Recurrent Staphylococcus aureus infections, Eczematoid dermatit... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Recurrent Aspergillus infections, Recurrent Staphylococcus aureus infections, Eczematoid dermatit... OMIM:233710
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Hypocalcemia, Decreased prealbumin level, Interstitial pneumonitis, Anti-liver cytosolic antigen ... ORPHA:37042
Adult Idiopathic Neutropenia
Monocytosis, Monocytopenia, Increased circulating IgM level, Lymphopenia, Neutropenia, Recurrent ... ORPHA:2688
Aneurysm Of Sinus Of Valsalva
Aortic regurgitation, Oliguria, Heart murmur, Congestive heart failure, Bacterial endocarditis ORPHA:1054
Sting-Associated Vasculopathy, Infantile-Onset
Skin rash, Pustular rash, Thrombocytosis, Pustule, Increased circulating IgA level, Lymphopenia, ... OMIM:615934
Spherocytosis, Type 5
Hemolytic anemia, Reticulocytosis, Jaundice, Splenomegaly, Spherocytosis OMIM:612690
Bare Lymphocyte Syndrome, Type Ii
Cutaneous anergy, Recurrent fungal infections, Recurrent upper respiratory tract infections, Vira... OMIM:209920
Red Cell Phospholipid Defect With Hemolysis
Reticulocytosis, Intermittent jaundice, Splenomegaly OMIM:179700
Immunodeficiency With Hyper-Igm, Type 5
Epididymitis, Increased circulating IgM level, Recurrent upper and lower respiratory tract infect... OMIM:608106
Complement Factor D Deficiency
Recurrent bacterial infections OMIM:613912
Schimke Immuno-Osseous Dysplasia
Abnormal proportion of naive CD4 T cells, Decreased proportion of naive CD8 T cells, Neutropenia,... ORPHA:1830
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Complement Component 8 Deficiency, Type Ii
Meningitis, Recurrent Neisserial infections OMIM:613789
Cystinuria
Recurrent urinary tract infections, Cystinuria, Ornithinuria, Argininuria, Renal insufficiency, N... OMIM:220100
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive
Decreased proportion of class-switched memory B cells, Cutaneous abscess, Increased circulating I... OMIM:618944
Lysinuric Protein Intolerance
Increased circulating ferritin concentration, Hypercholesterolemia, Hyperglutaminemia, Proteinuri... ORPHA:470
Oculogastrointestinal Muscular Dystrophy
Spontaneous esophageal perforation, Abnormality of the gastrointestinal tract, Intestinal pseudo-... ORPHA:1876
Granulomatous Disease, Chronic, X-Linked
Recurrent Aspergillus infections, Recurrent Staphylococcus aureus infections, Eczematoid dermatit... OMIM:306400
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Recurrent Aspergillus infections, Recurrent Staphylococcus aureus infections, Eczematoid dermatit... OMIM:233690
Hypercalcemia, Infantile, 1
Polyuria, Weight loss, Pulmonic stenosis, Aortic valve stenosis, Hypercalciuria, Failure to thriv... OMIM:143880
Immunodeficiency 72 With Autoinflammation
Increased circulating IgE level, Bronchiectasis, Recurrent otitis media, Increased circulating Ig... OMIM:618982
Complement Component 6 Deficiency
Recurrent meningococcal disease OMIM:612446
Immunodeficiency With Hyper-Igm, Type 4
Bronchiectasis, Recurrent upper respiratory tract infections, Autoimmune thrombocytopenia, Autoim... OMIM:608184
Immunoerythromyeloid Hypoplasia
Erythroid hypoplasia, Decreased circulating IgG level OMIM:242880
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Skin rash, Recurrent bacterial skin infections, Decreased proportion of CD4-positive helper T cel... ORPHA:276
Focal Segmental Glomerulosclerosis 1
Focal segmental glomerulosclerosis, Hypoalbuminemia, Stage 5 chronic kidney disease, Anemia, Hype... OMIM:603278
Hyper-Beta-Alaninemia
Hyperbeta-alaninemia, Failure to thrive, Increased urinary taurine OMIM:237400
Focal Segmental Glomerulosclerosis 6
Hematuria, Focal segmental glomerulosclerosis, Renal tubular atrophy, Chronic kidney disease, Hyp... OMIM:614131
Immunodeficiency With Hyper-Igm, Type 3
Impaired memory B cell generation, Increased circulating IgM level, Decreased circulating IgE, Ne... OMIM:606843
Portal Hypertension, Noncirrhotic, 1
Hepatomegaly, Portal hypertension, Splenomegaly OMIM:617068
Immunodeficiency 23
Increased circulating IgM level, Hemolytic anemia, Increased circulating IgE level, Bronchiectasi... OMIM:615816
Anemia, Congenital Dyserythropoietic, Type Iv
Reticulocytosis, Erythroid hyperplasia, Hepatomegaly, Anemia of inadequate production, Anemia, Sp... OMIM:613673
Ficolin 3 Deficiency
Recurrent lower respiratory tract infections, Necrotizing enterocolitis, Recurrent abscess format... OMIM:613860
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Extramedullary hematopoiesis, Neutropenia, Thrombocytopenia, Hepatomegaly, Leukopenia, Splenomega... OMIM:615285
Hyperprolinemia, Type Ii
Hyperglycinuria, Hydroxyprolinuria, Prolinuria, Hyperprolinemia OMIM:239510
Pauci-Immune Glomerulonephritis
Arteritis, Acute kidney injury, Scleritis, Nephrotic range proteinuria, Elevated circulating crea... ORPHA:93126
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Decreased mean corpuscular hemoglobin concentration, Stomatocytosis, Reticulocy... ORPHA:3203
Neutrophil Immunodeficiency Syndrome
Leukocytosis, Abnormality of neutrophil physiology ORPHA:183707
Insulin Autoimmune Syndrome
Systemic lupus erythematosus, Autoimmunity, Increased circulating antibody level, Weight loss, Au... ORPHA:411593
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Renal hypoplasia, Elevated circulating creatinine concentration, Glomerulonephritis, Stage 5 chro... OMIM:614376
Immunodeficiency, Common Variable, 2
Recurrent bronchitis, Partial absence of specific antibody response to unconjugated pneumococcus ... OMIM:240500
Dibasic Amino Aciduria I
Dibasicaminoaciduria, Ornithinuria, Argininuria, Hyperlysinuria OMIM:222690
Hydroxykynureninuria
Hypotension, Renal tubular dysfunction, Tachycardia, Aminoaciduria OMIM:236800
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Hypomagnesemia, Polyuria, Hyperuricemia, Renal salt wasting, Hyponatremia, Type 2 muscle fiber at... OMIM:613845
Idiopathic Steroid-Resistant Nephrotic Syndrome
Peritonitis, Hypercholesterolemia, Acute kidney injury, Focal segmental glomerulosclerosis, Foamy... ORPHA:567548
Chilblain Lupus
Skin rash, Systemic lupus erythematosus, Increased circulating antibody level, Discoid lupus rash... ORPHA:90280
Transcobalamin Deficiency
Acute kidney injury, Decreased circulating antibody level, Lymphopenia, Neutropenia, Thrombocytop... ORPHA:859
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Recurrent pancreatitis, Splenomegaly OMIM:118830
Griscelli Syndrome, Type 2
Hemophagocytosis, Hepatosplenomegaly, Reduced delayed hypersensitivity, Recurrent bacterial infec... OMIM:607624
Ménétrier Disease
Multiple gastric polyps, Gastrointestinal hemorrhage, Helicobacter pylori infection, Gastroesopha... ORPHA:2494
Focal Segmental Glomerulosclerosis 10
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Renal insufficiency, Minimal ... OMIM:256020
Nephrotic Syndrome, Type 2
Focal segmental glomerulosclerosis, Hypoalbuminemia, Stage 5 chronic kidney disease, Nephrotic sy... OMIM:600995
Anemia, Congenital Dyserythropoietic, Type Ii
Reticulocytosis, Cholelithiasis, Jaundice, Anemia of inadequate production, Splenomegaly OMIM:224100
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Hypophosphatemia, Nephrocalcinosis, Low-molecular-weight proteinuria, Hyposthenuria, Focal segmen... OMIM:308990
Nephrotic Syndrome, Type 9
Focal segmental glomerulosclerosis, Hypoalbuminemia, Stage 5 chronic kidney disease, Nephrotic sy... OMIM:615573
Immunodeficiency 12
Recurrent viral infections, Recurrent bacterial infections OMIM:615468
Acute Monoblastic/Monocytic Leukemia
Oliguria, Weight loss ORPHA:514
Neutropenia, Severe Congenital, X-Linked
Neutropenia, Recurrent bacterial infections OMIM:300299
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Proximal tubulopathy, Aminoaciduria, Weight loss, Cachexia, Failure to thrive OMIM:612075
Renal Tubular Dysgenesis
Hypotension, Abnormality of the urinary system, Renotubular dysgenesis, Anuria OMIM:267430
Nephrotic Syndrome, Type 11
Hypercholesterolemia, IgA deposition in the glomerulus, Focal segmental glomerulosclerosis, Renal... OMIM:616730
Cd8 Deficiency, Familial
Bronchiectasis, Absence of CD8-positive T cells, Recurrent viral infections, Recurrent bacterial ... OMIM:608957
Thrombocytopenia, Anemia, And Myelofibrosis
Thrombocytopenia, Anisopoikilocytosis, Anemia, Splenomegaly OMIM:617441
Sepsis In Premature Infants
Hypotension, Reversible renal failure, Decreased body weight, Oliguria, Tachycardia, Elevated cir... ORPHA:90051
Delta-Beta-Thalassemia
Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231237
Autosomal Dominant Severe Congenital Neutropenia
Monocytosis, Antineutrophil antibody positivity, Lymphopenia, Leukemia, Periodontitis, Neutropeni... ORPHA:486
Purine Nucleoside Phosphorylase Deficiency
Recurrent opportunistic infections, Pure red cell aplasia, Autoimmune thrombocytopenia, Recurrent... OMIM:613179
Acetophenetidin Sensitivity
Methemoglobinemia, Hemolytic anemia OMIM:200300
Selective Igm Deficiency
Cutaneous abscess, Bronchiectasis, Decreased specific antibody response to vaccination, Recurrent... ORPHA:331235
Intrinsic Factor Deficiency
Megaloblastic anemia, Megaloblastic erythroid hyperplasia, Increased mean corpuscular volume OMIM:261000
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Skin rash, Abnormal natural killer cell count, Reduced antigen-specific T cell proliferation, Eos... ORPHA:331206
Car T Cell Therapy-Associated Cytokine Release Syndrome
Reduced ejection fraction, Arrhythmia, Acute kidney injury, Hypotension, Elevated circulating cre... ORPHA:542323
Camptodactyly-Taurinuria Syndrome
Camptodactyly of finger, Aminoaciduria, Increased urinary taurine, Camptodactyly of toe ORPHA:1325
Nk-Cell Enteropathy
Gastric ulcer, Hematochezia, Gastroesophageal reflux, Abnormality of the gastric mucosa, Colonic ... ORPHA:263665
Congenital Disorder Of Glycosylation, Type Iic
Bronchiolitis, Recurrent otitis media, Periodontitis, Pneumonia, Reduction of neutrophil motility... OMIM:266265
Alpha-Thalassemia
Hemolytic anemia, Microcytic anemia, Cholelithiasis, Jaundice, Hypersplenism, Splenomegaly, Anemi... ORPHA:846
Neutropenia, Chronic Familial
Increased circulating antibody level, Periodontitis, Neutropenia OMIM:162700
Anemia, Congenital Dyserythropoietic, Type Ib
Reticulocytosis, Erythroid hyperplasia, Hepatomegaly, Anisocytosis, Jaundice, Splenomegaly, Anemi... OMIM:615631
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hypochromia, Hepatomegaly, Anemia, Splenomegaly, Decreased mean corpuscular volume, Poikilocytosis OMIM:615234
Camptodactyly 1
Camptodactyly of finger, Increased urinary taurine OMIM:114200
Muscular Dystrophy, Cardiac Type
Muscular dystrophy, Cardiomyopathy, Carnosinuria, Elevated circulating creatine kinase concentrat... OMIM:309930
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization
Glomerulonephritis, Renal insufficiency, Glomerular deposits, Nephrotic syndrome ORPHA:69063
Combined Immunodeficiency Due To Zap70 Deficiency
Skin rash, Lymphocytosis, Recurrent bacterial skin infections, Pneumonia, Eosinophilia, Chronic o... ORPHA:911
Homozygous 11P15-P14 Deletion Syndrome
Generalized aminoaciduria, Renal tubular dysfunction, Failure to thrive OMIM:606528
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome
Aminoaciduria, Failure to thrive ORPHA:2278
Anemia, Congenital Dyserythropoietic, Type Ia
Macrocytic dyserythropoietic anemia, Reticulocytosis, Erythroid hyperplasia, Prolonged neonatal j... OMIM:224120
Saccharopinuria
Histidinuria, Citrullinuria, Hyperlysinuria OMIM:268700
Immunodeficiency With Hyper-Igm, Type 1
Decreased circulating IgE, Sclerosing cholangitis, Neutropenia, Decreased T cell activation, Chro... OMIM:308230
Iminoglycinuria
Hyperglycinuria, Hydroxyprolinuria, Prolinuria OMIM:242600
Iminoglycinuria
Hyperglycinuria, Hydroxyprolinuria, Prolinuria ORPHA:42062
Immunoglobulin A Deficiency 2
Autoimmunity, Abnormal lymphocyte morphology, Decreased circulating IgA level OMIM:609529
Whim Syndrome 1
Bronchiectasis, Recurrent upper respiratory tract infections, Decreased circulating antibody leve... OMIM:193670
Cernunnos-Xlf Deficiency
T lymphocytopenia, Autoimmunity, Decreased circulating antibody level, Lymphopenia, Thrombocytope... ORPHA:169079
Nephrotic Syndrome, Type 10
Podocyte foot process effacement, Steroid-resistant nephrotic syndrome, Minimal change glomerulon... OMIM:615861
Insulin-Resistance Syndrome Type B
Skin rash, Abnormal circulating lipid concentration, Weight loss, Pneumonia, Increased circulatin... ORPHA:2298
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Chronic hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Congenital hemolytic ... ORPHA:766
Senior-Loken Syndrome 1
Nephronophthisis, Polyuria, Stage 5 chronic kidney disease OMIM:266900
Atypical Hemolytic Uremic Syndrome
Microangiopathic hemolytic anemia, Hematuria, Acute kidney injury, Decreased serum complement fac... ORPHA:2134
Persistent Polyclonal B-Cell Lymphocytosis
Hepatomegaly, Lymphocytosis, Splenomegaly OMIM:606445
Neutrophil Actin Dysfunction
Recurrent bacterial infections OMIM:257150
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Abscess, Recurrent tonsillitis, Hemolytic anemia, Lymphadenitis, Impaired oxidative burst, Lympho... OMIM:618935
Immunodeficiency 28
Recurrent mycobacterial infections OMIM:614889
Galloway-Mowat Syndrome 8
Hematuria, Focal segmental glomerulosclerosis, Renal tubular atrophy, Hypoalbuminemia, Nephrotic ... OMIM:618349
Thrombotic Thrombocytopenic Purpura
Microangiopathic hemolytic anemia, Hematuria, Acute kidney injury, Reticulocytosis, Thrombocytope... ORPHA:54057
Retinal Telangiectasia And Hypogammaglobulinemia
Decreased circulating IgG level, Reduced delayed hypersensitivity OMIM:267900
Asplenia, Isolated Congenital
Thrombocytosis, Howell-Jolly bodies, Asplenia OMIM:271400
Mu-Heavy Chain Disease
Increased circulating antibody level, Weight loss, Nephropathy, Abnormal B cell count, Bence Jone... ORPHA:100024
Valinemia
Hypervalinemia, Valinuria, Failure to thrive OMIM:277100
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Oval macrocytosis, Anisocytosis, Poikilocytosis, Anemia of inadequate production OMIM:603529
Complement Component C1R/C1S Deficiency
Autoimmunity, Discoid lupus rash, Complement deficiency, Nephritis, Arthritis OMIM:216950
Chronic Intestinal Pseudoobstruction
Abnormal intestine morphology, Pyloric stenosis, Intestinal malrotation, Patent ductus arteriosus ORPHA:2978
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis
Hematuria, Membranoproliferative glomerulonephritis, Nephrotic syndrome, Decreased serum compleme... OMIM:613913
Familial Pseudohyperkalemia
Reticulocytosis, Episodic hemolytic anemia, Stomatocytosis, Increased mean corpuscular volume ORPHA:90044
Immunodeficiency 38 With Basal Ganglia Calcification
Recurrent mycobacterial infections OMIM:616126
Rowley-Rosenberg Syndrome
Cor pulmonale, Aminoaciduria, Hypertension, Right ventricular hypertrophy, Pulmonary arterial hyp... OMIM:268500
Immunodeficiency 50
Decreased circulating antibody level, Lymphopenia, Recurrent urinary tract infections, Neutropeni... OMIM:300988
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment
Decreased glomerular filtration rate, Elevated circulating creatinine concentration, Nephropathy OMIM:242530
Lipoprotein Glomerulopathy
Mesangial hypercellularity, Renal insufficiency, Glomerulopathy, Proteinuria OMIM:611771
Inclusion Body Myositis
Autoimmunity, Elevated circulating creatine kinase concentration ORPHA:611
Lymphoproliferative Syndrome 1
Increased circulating ferritin concentration, Autoimmune thrombocytopenia, Autoimmune hemolytic a... OMIM:613011
Galactosemia Iii
Failure to thrive, Hypergalactosemia, Aminoaciduria, Galactosuria OMIM:230350
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Microangiopathic hemolytic anemia, Increased blood urea nitrogen, Acute kidney injury, Reticulocy... OMIM:235400
Tiglic Acidemia
Aminoaciduria OMIM:275190
Immunodeficiency 81
Decreased proportion of class-switched memory B cells, Skin rash, Autoimmune hemolytic anemia, Ab... OMIM:619374
Spherocytosis, Type 2
Hemolytic anemia, Reticulocytosis, Jaundice, Splenomegaly, Acanthocytosis, Spherocytosis OMIM:616649
Spherocytosis, Type 4
Hemolytic anemia, Reticulocytosis, Jaundice, Splenomegaly, Spherocytosis OMIM:612653
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Abnormally low T cell receptor excision circle level, Failure to thrive in infancy, B lymphocytop... OMIM:618987
Nephronophthisis 1
Nephronophthisis, Hyposthenuria, Tubulointerstitial fibrosis, Polyuria, Hypertension, Renal tubul... OMIM:256100
Dehydrated Hereditary Stomatocytosis
Nonspherocytic hemolytic anemia, Increased hemoglobin concentration, Hemolytic anemia, Increased ... ORPHA:3202
Ichthyosis, Split Hairs, And Amino Aciduria
Aminoaciduria OMIM:242550
Dicarboxylic Aminoaciduria
Aspartic aciduria, Nephrolithiasis, Aminoaciduria OMIM:222730
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Lymphopenia, Hepatiti... ORPHA:444463
Severe Combined Immunodeficiency, X-Linked
T lymphocytopenia, Skin rash, Chronic oral candidiasis, Decreased circulating IgE, Impaired lymph... OMIM:300400
Immunodeficiency 60
Decreased proportion of memory B cells, Bronchiectasis, Decreased circulating IgE, Decreased baso... OMIM:618394
Erythrocytosis, Familial, 8
Nonspherocytic hemolytic anemia, Cholecystitis, Polycythemia, Cholelithiasis, Normocytic anemia, ... OMIM:222800
Ethylene Glycol Poisoning
Hypocalcemia, Hematuria, Renal tubular dysfunction, Hypotension, Renal tubular epithelial necrosi... ORPHA:31826
Alport Syndrome 3, Autosomal Dominant
Hypophosphatemia, Azotemia, Hematuria, Thickened glomerular basement membrane, Glomerulonephritis... OMIM:104200
Caspase 8 Deficiency
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:607271
Hepatic Venoocclusive Disease With Immunodeficiency
Decreased circulating IgG level OMIM:235550
Hereditary Renal Hypouricemia
Abnormal renal physiology, Abnormal renal tubule morphology, Mild proteinuria, Hematuria, Increas... ORPHA:94088
Fibronectin Glomerulopathy
Glomerulopathy, Abnormal glomerular mesangium morphology, Microscopic hematuria, Hypoalbuminemia,... ORPHA:84090
C3 Glomerulopathy 3
Glomerulonephritis, Renal insufficiency, Hematuria, Stage 5 chronic kidney disease OMIM:614809
Renal Glucosuria
Glycosuria, Polyuria, Enuresis nocturna OMIM:233100
Trimethylaminuria
Neutropenia, Anemia, Splenomegaly OMIM:602079
Lymphoid System Deterioration, Progressive
Decreased circulating total IgM, Abnormal T cell morphology, Lymphopenia, Decreased circulating I... OMIM:247630
Thrombotic Thrombocytopenic Purpura, Hereditary
Abnormal renal physiology, Microangiopathic hemolytic anemia, Increased blood urea nitrogen, Reti... OMIM:274150
Seizures-Intellectual Disability Due To Hydroxylysinuria Syndrome
Aminoaciduria ORPHA:79156
Carnosinemia
Carnosinuria OMIM:212200
Nephrotic Syndrome, Type 3
Focal segmental glomerulosclerosis, Hypoalbuminemia, Stage 5 chronic kidney disease, Nephrotic sy... OMIM:610725
Hydroxylysinuria
Hyperlysinuria OMIM:236900
Carnosinase Deficiency
Carnosinuria ORPHA:1361
Senior-Loken Syndrome 4
Nephronophthisis, Polyuria, Stage 5 chronic kidney disease OMIM:606996
Tn Polyagglutination Syndrome
Autoimmunity, Abnormal erythrocyte morphology OMIM:300622
Elliptocytosis 1
Jaundice, Hemolytic anemia, Elliptocytosis, Splenomegaly OMIM:611804
Holoprosencephaly, Recurrent Infections, And Monocytosis
Monocytosis, Recurrent skin infections, Micropenis, Failure to thrive OMIM:610680
Omenn Syndrome
Severe B lymphocytopenia, Recurrent fungal infections, Erythroderma, Recurrent viral infections, ... OMIM:603554
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease
Decreased glomerular filtration rate, Stage 5 chronic kidney disease, Renal insufficiency, Hypert... OMIM:618061
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, B lymphocytopenia, Neutropenia OMIM:613107
Sickle Cell Anemia
Iron deficiency anemia, Hypochromic anemia, Thrombocytosis, Hemolytic anemia, Chronic hemolytic a... ORPHA:232
Pulmonary Nodular Lymphoid Hyperplasia, Familial
Systemic lupus erythematosus, Increased circulating antibody level, Rheumatoid arthritis, IgA dep... OMIM:178610
Nephrotic Syndrome, Type 6
Tubulointerstitial fibrosis, Focal segmental glomerulosclerosis, Hypoalbuminemia, Nephrotic syndr... OMIM:614196
Paternal Uniparental Disomy Of Chromosome 1
Episodic hemolytic anemia, Increased blood urea nitrogen, Enlarged kidney, Proteinuria, Membranop... ORPHA:251004
Exercise-Induced Malignant Hyperthermia
Hypocalcemia, Hypocapnia, Abnormal pulse pressure, Acute kidney injury, Hypotension, Sinus tachyc... ORPHA:466650
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Stomatocytosis, Reticulocytosis, Hepatomegaly, Jaundice, Splenomegaly OMIM:185000
Fibromuscular Dysplasia, Arterial
Arterial fibromuscular dysplasia, Intermittent claudication, Renovascular hypertension, Myocardia... OMIM:135580
Solute carrier family 4 (anion exchanger), member 1
Hemolytic anemia, Elliptocytosis, Stomatocytosis, Reticulocytosis, Jaundice, Splenomegaly, Acanth... OMIM:109270
Autoimmune Hemolytic Anemia, Cold Type
Abnormal leukocyte morphology, Hemolytic anemia, Splenomegaly ORPHA:228312
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Tubulointerstitial fibrosis, Hypotension, Renal hypoplasia, Elevated circulating creatinine conce... OMIM:174000
Lecithin:Cholesterol Acyltransferase Deficiency
Hemolytic anemia, Hypertriglyceridemia, Normochromic anemia, Decreased HDL cholesterol concentrat... OMIM:245900
Brucellosis
Pericarditis, Intrarenal abscess, Pneumonia, Weight loss, Increased circulating IgG level, Small ... ORPHA:1304
Nephrotic Syndrome, Type 8
Thin glomerular basement membrane, Chronic kidney disease, Hypoalbuminemia, Nephrotic syndrome, D... OMIM:615244
Bacterial Toxic-Shock Syndrome
Peritonitis, Hypocalcemia, Skin rash, Elevated circulating creatinine concentration, Recurrent ur... ORPHA:36234
Woronets Trait
Red blood cell keratocytosis OMIM:194320
Gracile Syndrome
Increased circulating ferritin concentration, Increased serum pyruvate, Increased serum iron, Ami... OMIM:603358
Cholera
Hypocalcemia, Abnormality of renal excretion, Acute kidney injury, Hypotension, Hyponatremia, Abn... ORPHA:173
3-Hydroxyisobutyric Aciduria
Aminoaciduria, Failure to thrive OMIM:236795
Hyperglycinuria
Hyperglycinuria, Calcium oxalate nephrolithiasis OMIM:138500
Familial Aortic Dissection
Descending thoracic aorta aneurysm, Carotid artery dilatation, Aortic regurgitation, Abnormal lef... ORPHA:229
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hypochromia, Cirrhosis, Erythroid hyperplasia, Hepatomegaly, Anisocytosis, Jaundice, Anemia, Sple... OMIM:616860
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Hypernatriuria, Polyuria, Hyponatremia, Increased urinary potassium, Renal salt wasting, Decrease... OMIM:613090
Immunodeficiency 52
Coombs-positive hemolytic anemia, Persistent EBV viremia, Bronchiectasis, Autoimmune thrombocytop... OMIM:617514
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Mucopolysacchariduria, Abnormal T cell morphology, Small for gestational age, Decreased circulati... OMIM:215250
Autoinflammation With Episodic Fever And Lymphadenopathy
Recurrent tonsillitis, Microcytic anemia, Hepatomegaly, Splenomegaly, Lymphadenopathy OMIM:618852
Orthostatic Hypotension 2
Decreased glomerular filtration rate, Orthostatic hypotension OMIM:618182
Hypomagnesemia, Seizures, And Mental Retardation 2
Renal potassium wasting, Polyuria, Hypokalemia, Renal magnesium wasting, Hypomagnesemia OMIM:618314
Infection-Related Hemolytic Uremic Syndrome
Hypocalcemia, Acute kidney injury, Anuria, Nephrotic range proteinuria, Hypertensive crisis, Hypo... ORPHA:544482
Immune Deficiency Disease
Recurrent viral infections, Cholangitis, Fulminant hepatitis, Recurrent bacterial infections, Dec... OMIM:242850
Immunodeficiency, Common Variable, 11
Decreased proportion of class-switched memory B cells, Inflammation of the large intestine, Incre... OMIM:615767
Galloway-Mowat Syndrome 7
Hypercholesterolemia, IgA deposition in the glomerulus, Focal segmental glomerulosclerosis, Renal... OMIM:618348
Proteasome-Associated Autoinflammatory Syndrome 5
Hepatomegaly, Splenomegaly OMIM:619175
Indolylacroyl Glycinuria With Mental Retardation
Hyperglycinuria OMIM:243050
Coenzyme Q10 Deficiency, Primary, 8
Abnormal renal corticomedullary differentiation, Renal dysplasia, Elevated circulating creatinine... OMIM:616733
Adenosine Triphosphate, Elevated, Of Erythrocytes
Polycythemia, Reduced erythrocyte 2,3-diphosphoglycerate concentration OMIM:102900
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Inflammation of the large intestine, Increased circulating IgM level, Interface hepatitis, Granul... ORPHA:562639
Nephrotic Syndrome, Type 1
Hypoproteinemia, Glomerular sclerosis, Renal tubular atrophy, Small for gestational age, Hypoalbu... OMIM:256300
Combined Immunodeficiency, X-Linked
Decreased proportion of CD8-positive T cells, Decreased proportion of CD4-positive helper T cells... OMIM:312863
5-Oxoprolinase Deficiency
Prolinuria, Calcium oxalate nephrolithiasis, Increased level of L-pyroglutamic acid in urine OMIM:260005
Cystathioninuria
Cystathioninuria OMIM:219500
Beta-Aminoisobutyric Aciduria
Beta-aminoisobutyric aciduria OMIM:210100
Relapsing Fever
Increased total bilirubin, Hematuria, Acute kidney injury, Leukocytosis, Elevated circulating cre... ORPHA:91547
Anti-Glomerular Basement Membrane Disease
Hematuria, Autoimmunity, Glomerulopathy, Arthritis, Anemia, Renal insufficiency, Proteinuria ORPHA:375
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Decreased specific anti-polysaccharide antibody level, Thyroiditis, Failure to thrive in infancy,... OMIM:606367
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
Dysuria, Acute kidney injury, Uric acid nephrolithiasis, Elevated circulating creatinine concentr... ORPHA:79233
Dent Disease 2
Hypophosphatemia, Low-molecular-weight proteinuria, Proximal tubulopathy, Aminoaciduria, Hypercal... OMIM:300555
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Bronchiectasis, Abnormally low T cell receptor excision circle level, Neutropenia, Pancytopenia, ... OMIM:618986
Immunodeficiency 69
Thrombocytosis, Leukocytosis, Pancytopenia, Anemia, Splenomegaly, Hepatosplenomegaly OMIM:618963
Glomerulopathy With Fibronectin Deposits 1
Lobular glomerulopathy, Nephropathy, Glomerulopathy, Microscopic hematuria, Stage 5 chronic kidne... OMIM:137950
Aortic Aneurysm, Familial Thoracic 4
Ascending aortic dissection, Aortic regurgitation, Abnormal left ventricular function, Patent duc... OMIM:132900
Spherocytosis, Type 1
Hemolytic anemia, Reticulocytosis, Cholelithiasis, Jaundice, Splenomegaly, Spherocytosis OMIM:182900
Aorto-Ventricular Tunnel
Abnormal coronary artery morphology, Abnormal aortic morphology, Aorto-ventricular tunnel, Heart ... ORPHA:3400
Immunodeficiency 33
Decreased circulating total IgM, Increased circulating IgA level, Disseminated nontuberculous myc... OMIM:300636
Pediatric Systemic Lupus Erythematosus
Skin rash, Hematuria, Decreased serum complement C4, Discoid lupus rash, Leukopenia, Myositis, Re... ORPHA:93552
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Patent ductus arteriosus, Neutropenia, Cor triatriatum, Leukopenia, Anemia, Pulmonary arterial hy... OMIM:612541
X-Linked Lymphoproliferative Disease
Increased circulating ferritin concentration, Lymphocytosis, Pancytopenia, Histiocytosis, Increas... ORPHA:2442
Hypomagnesemia 3, Renal
Hypocitraturia, Renal calcium wasting, Hematuria, Recurrent urinary tract infections, Polyuria, H... OMIM:248250
Leukocyte Adhesion Deficiency, Type Iii
Leukocytosis, Extramedullary hematopoiesis, Epistaxis, Hepatomegaly, Splenomegaly, Anemia, Recurr... OMIM:612840
Immunodeficiency 47
Decreased circulating antibody level, Hepatomegaly, Leukopenia, Splenomegaly, Recurrent bacterial... OMIM:300972
Phenylketonuria
Aminoaciduria ORPHA:716
Primary Hyperoxaluria Type 1
Dysuria, Hematuria, Recurrent urinary tract infections, Enuresis, Hyperoxaluria, Decreased glomer... ORPHA:93598
Complement Factor B Deficiency
Peritonitis, Pneumonia, Meningitis, Recurrent meningococcal disease, Recurrent bacterial infections OMIM:615561
Amino Aciduria With Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, And Acidosis
Muscular dystrophy, Aminoaciduria OMIM:204730
Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities
Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome OMIM:614199
Preeclampsia/Eclampsia 1
Thrombocytopenia, Proteinuria OMIM:189800
Lymphoproliferative Syndrome, X-Linked, 1
Lymphocytosis, Hemophagocytosis, Increased circulating IgM level, Decreased circulating antibody ... OMIM:308240
Cystathioninuria
Nephrolithiasis, Cystathioninemia, Cystathioninuria ORPHA:212
Diamond-Blackfan Anemia 8
Increased mean corpuscular volume, Neutropenia, Macrocytic anemia OMIM:612563
Lymphoma, Hodgkin, Classic
Impaired lymphocyte transformation with phytohemagglutinin, Polyclonal elevation of IgM OMIM:236000
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Tubulointerstitial fibrosis, Hypernatriuria, Polyuria, Hyponatremia, Increased urinary potassium,... OMIM:602522
Aortic Aneurysm, Familial Thoracic 7
Descending aortic dissection, Aortic aneurysm, Ascending aortic dissection, Aortic rupture OMIM:613780
Necrobiosis Lipoidica
Abnormality of neutrophil physiology, Granuloma, Telangiectasia of the skin, Inflammatory abnorma... ORPHA:542592
Multiple Myeloma
Acute kidney injury, Decreased circulating antibody level, Elevated circulating creatinine concen... ORPHA:29073
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Nonspherocytic hemolytic anemia, Reticulocytosis, Cholecystitis, Cholelithiasis, Normocytic anemi... OMIM:235700
Combined Oxidative Phosphorylation Deficiency 52
Lacticaciduria, Hyperglycinemia, Hyperamylasemia, Aminoaciduria, Hyperalaninemia, Elevated circul... OMIM:619386
Cystic Echinococcosis
Peritoneal abscess, Increased circulating antibody level, Hyperbilirubinemia, Membranous nephropa... ORPHA:400
Combined Cellular And Humoral Immune Defects With Granulomas
T lymphocytopenia, Decreased circulating IgG level, B lymphocytopenia OMIM:233650
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Prostatitis, Epididymitis, Recurrent otitis media, Pyoderma, Pneumonia, Septic arthritis, Recurre... OMIM:307200
Oligomeganephronia
Decreased numbers of nephrons, Proteinuria, Secundum atrial septal defect, Elevated circulating c... ORPHA:2260
Nephrotic Syndrome, Type 14
Focal segmental glomerulosclerosis, Lymphopenia, Hypertriglyceridemia, Hypoalbuminemia, Stage 5 c... OMIM:617575
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Neutropenia, Thrombocytopenia, HbH hemoglobin, Splenomegaly, Acute leukemia ORPHA:231401
Galactose Epimerase Deficiency
Aminoaciduria, Weight loss ORPHA:79238
Immunodeficiency, Common Variable, 13
Decreased circulating antibody level, Pancytopenia, B lymphocytopenia, Recurrent bacterial infect... OMIM:616873
Hyperprolinemia, Type I
Hyperglycinuria, Hydroxyprolinuria, Prolinuria, Hyperprolinemia OMIM:239500
Galloway-Mowat Syndrome 2, X-Linked
Glomerular sclerosis, Stage 5 chronic kidney disease, Nephrotic syndrome, Minimal change glomerul... OMIM:301006
Type 1 Diabetes Mellitus
Polyuria, Decreased level of 1,5 anhydroglucitol in serum OMIM:222100
Chediak-Higashi Syndrome
Hemophagocytosis, Abnormal dense granules, Recurrent systemic pyogenic infections, Spontaneous, r... OMIM:214500
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Severe B lymphocytopenia, Pneumonia, Absent specific antibody response, Sinusitis, Eosinophilia, ... OMIM:102700
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Recurrent herpes, Failure to thrive secondary to recurrent infections, Chronic oral candidiasis, ... ORPHA:169160
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Monoclonal immunoglobulin M proteinemia, Impaired lymphocyte transformation with phytohemagglutin... OMIM:153600
Goodpasture Syndrome
Erythrocyte cylindruria, Increased blood urea nitrogen, Cylindruria, Anti-myeloperoxidase antibod... OMIM:233450
Autosomal Dominant Polycystic Kidney Disease
Hematuria, Albuminuria, Pyelonephritis, Enlarged kidney, Mitral valve prolapse, Elevated circulat... ORPHA:730
Boutonneuse Fever
Skin rash, Increased circulating IgM level, Maculopapular exanthema, Thrombocytopenia, Increased ... ORPHA:83313
Immunodeficiency 14A, Autosomal Dominant
Decreased proportion of class-switched memory B cells, T lymphocytopenia, Increased circulating I... OMIM:615513
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia