Gene Summary

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

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 mean corpuscular volume Cybbtm2b(KOMP)Wtsi HOM   Early adult 4.03×10-06
increased spleen weight Cybbtm2b(KOMP)Wtsi HOM   Early adult 5.75×10-06

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 0.67% (4 of 598)
aorta 0.17% (1 of 598)
bone 0.0%
brain 0.84% (5 of 598)
brainstem 0.33% (2 of 598)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 598)
cerebellum 0.5% (3 of 598)
cerebral cortex 0.33% (2 of 598)
esophagus 1.66% (7 of 422)
eye 0.0%
gall bladder 0.0%
heart 0.33% (2 of 598)
hippocampus 0.5% (3 of 598)
hypothalamus 0.33% (2 of 598)
kidney 4.52% (27 of 598)
large intestine 5.35% (32 of 598)
liver 0.0%
lower urinary tract 0.17% (1 of 598)
lung 0.33% (2 of 598)
lymph node 0.17% (1 of 598)
mammary gland 0.0%
olfactory lobe 0.33% (2 of 598)
oral epithelium 0.0%
ovary 0.17% (1 of 598)
oviduct 0.0%
pancreas 0.84% (5 of 598)
parathyroid gland 0.17% (1 of 576)
peripheral nervous system 0.33% (2 of 598)
peyers patch 0.0%
pituitary gland 0.17% (1 of 598)
prostate gland 2.17% (13 of 598)
skeletal muscle 0.0%
skin 0.17% (1 of 598)
small intestine 5.35% (32 of 598)
spinal cord 0.5% (3 of 598)
spleen 0.5% (3 of 598)
stomach 3.68% (22 of 598)
striatum 0.5% (3 of 598)
testis 1% (6 of 598)
thymus 0.17% (1 of 598)
thyroid gland 3.01% (18 of 598)
trachea 0.5% (3 of 598)
uterus 0.33% (2 of 598)
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 510)
ear 0.2% (1 of 510)
embryo 0.39% (2 of 511)
eye 0.2% (1 of 510)
footplate 0.2% (1 of 510)
forebrain 0.2% (1 of 510)
forelimb 0.2% (1 of 510)
handplate 0.2% (1 of 510)
head 0.98% (5 of 510)
heart 0.2% (1 of 510)
hindbrain 1.18% (6 of 510)
hindlimb 0.2% (1 of 510)
liver 0.2% (1 of 505)
lung 0.2% (1 of 505)
mandibular process 0.2% (1 of 510)
maxillary process 0.2% (1 of 510)
midbrain 0.2% (1 of 510)
oral cavity 0.2% (1 of 505)
skin 0.2% (1 of 510)
tail 0.2% (1 of 510)
tail somite group 0.2% (1 of 510)

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

11 Images

Echo

M-Mode Images

28 Images

Embryo LacZ

LacZ images wholemount

12 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

11 Images

X-ray

XRay Images Whole Body Lateral Orientation

11 Images

Adult LacZ

LacZ Images Wholemount

3 Images

Immunophenotyping

Panel A FCS file(s)

8 Images

Immunophenotyping

Panel B FCS file(s)

8 Images

Auditory Brain Stem Response

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

4 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
Nephrotic syndrome, Colitis, Decreased specific pneumococcal antibody level, Podocyte foot proces... OMIM:617006
Diamond-Blackfan Anemia-Like
Steroid-responsive anemia, Pure red cell aplasia OMIM:617911
Diamond-Blackfan Anemia 19
Steroid-responsive anemia, Anemia, Erythroid hypoplasia OMIM:618312
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Increased circulating antibody level, Lymphopenia, Plasmacytosis, Pneumonia, Glomerulonephritis, ... OMIM:247800
Mannose-Binding Lectin Deficiency
Failure to thrive, Recurrent skin infections, Recurrent Klebsiella infections, Recurrent meningoc... OMIM:614372
Hemoglobin H Disease
Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin OMIM:613978
Polyposis of gastric fundus without polyposis coli
Abnormal gastric mucosa morphology, Multiple gastric polyps OMIM:175505
Fetal Cytomegalovirus Syndrome
Anemia, Hepatomegaly, Splenomegaly ORPHA:294
Transient Erythroblastopenia Of Childhood
Anemia, Transient erythroblastopenia OMIM:227050
C3 Glomerulopathy
Chronic kidney disease, Nephrotic syndrome, Mesangial hypercellularity, Decreased serum complemen... ORPHA:329918
Adenine Phosphoribosyltransferase Deficiency
Nephrolithiasis, Dysuria, Chronic kidney disease, Macroscopic hematuria, Recurrent urinary tract ... ORPHA:976
Agammaglobulinemia 3, Autosomal Recessive
Failure to thrive, Neutropenia, Recurrent bacterial infections, Recurrent bronchitis, Recurrent o... OMIM:613501
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Microcytic anemia, Abnormal hemoglobin, Splenomegaly ORPHA:231242
Beta-Thalassemia, Dominant Inclusion Body Type
Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Erythrocyte inclusion bodies, Microcytic... OMIM:603902
Ras-Associated Autoimmune Leukoproliferative Disorder
Increased circulating antibody level, Lymphocytosis, Splenomegaly, Monocytosis, Autoimmune thromb... OMIM:614470
Genetic Recurrent Myoglobinuria
Dark urine, Recurrent myoglobinuria, Hypocalcemia, Type 2 muscle fiber atrophy, Arrhythmia, Myosi... ORPHA:99845
Autoimmune Lymphoproliferative Syndrome, Type Iii
Elevated circulating C-reactive protein concentration, Absent isohemagglutinin level, Increased p... OMIM:615559
Immunodeficiency, Common Variable, 6
Mesangial Immune complex deposition, Nephrotic range proteinuria, Decreased specific pneumococcal... OMIM:613496
Adenine Phosphoribosyltransferase Deficiency
Nephrolithiasis, 2,8-dihydroxyadenine crystalluria, Urolithiasis, Hematuria, Oliguria, Elevated c... OMIM:614723
Specific Granule Deficiency 1
Absent neutrophil lactoferrin, Recurrent bacterial infections, Hyposegmentation of neutrophil nuc... OMIM:245480
Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive
Hypochromia, Decreased mean corpuscular volume, Hepatosplenomegaly, Sideroblastic anemia, Pyridox... OMIM:206000
Hemoglobin D Disease
Decreased mean corpuscular volume, Abnormal hemoglobin, HbS hemoglobin, Splenomegaly, Reduced alp... ORPHA:90039
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Failure to thrive, Recurrent otitis media, Recurrent bacterial infections, Neutropenia, Recurrent... OMIM:616022
Idiopathic Non-Lupus Full-House Nephropathy
Nephrotic syndrome, Skin rash, Decreased serum complement C3, Complement deficiency, Decreased se... ORPHA:567544
Immunodeficiency 64
Decreased lymphocyte proliferation in response to mitogen, Failure to thrive, Increased circulati... OMIM:618534
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Recurrent protozoan infections, Recurrent viral infections, Recurrent bacterial infections, Abnor... OMIM:308220
Immunodeficiency 51
Chronic furunculosis, Chronic oral candidiasis, Folliculitis, Recurrent cutaneous fungal infectio... OMIM:613953
Immunodeficiency 61
Frequent Giardia lamblia infestation, Recurrent bacterial infections, Arthritis, Recurrent sinusi... OMIM:300310
Autoimmune Lymphoproliferative Syndrome
Antiphospholipid antibody positivity, Neutropenia in presence of anti-neutropil antibodies, Incre... OMIM:601859
Immunodeficiency 24
Defective T cell proliferation, Decreased circulating IgG level, Lymphopenia, Decreased specific ... OMIM:615897
C1Q Deficiency
Systemic lupus erythematosus, Membranoproliferative glomerulonephritis, Autoimmunity, Decreased s... OMIM:613652
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Anemia, Hepatomegaly, Splenomegaly ORPHA:46532
Drug-Induced Lupus Erythematosus
Elevated circulating C-reactive protein concentration, Increased blood urea nitrogen, Decreased s... ORPHA:231111
Immunodeficiency 27A
Histiocytosis, Leukocytosis, Splenomegaly, Anemia, Hepatosplenomegaly, Rheumatoid factor positive... OMIM:209950
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Anemia, Sideroblastic, 4
Sideroblastic anemia, Abnormal erythrocyte morphology OMIM:182170
Proteasome-Associated Autoinflammatory Syndrome 2
Failure to thrive, Increased circulating IgA level, Elevated circulating C-reactive protein conce... OMIM:618048
Immunodeficiency 14B, Autosomal Recessive
Decreased circulating IgA level, Colitis, Decreased circulating IgG level, Neutrophilia, Leukocyt... OMIM:619281
Primary Membranoproliferative Glomerulonephritis
Chronic kidney disease, Nephrotic syndrome, Decreased serum complement C3, C3 nephritic factor po... ORPHA:54370
Dehydrated Hereditary Stomatocytosis 2
Increased mean corpuscular volume, Hepatomegaly, Splenomegaly, Anisopoikilocytosis, Acanthocytosi... OMIM:616689
Granulomatous disease with defect in neutrophil chemotaxis
Impaired neutrophil killing of staphylococci, Recurrent staphylococcal infections OMIM:233670
Myelolymphatic Insufficiency
Recurrent viral infections, Recurrent bacterial infections, Hyposegmentation of neutrophil nuclei... OMIM:310350
Autoimmune Lymphoproliferative Syndrome, Type Iia
Rheumatoid factor positive, Nephrotic syndrome, Smooth muscle antibody positivity, Splenomegaly, ... OMIM:603909
Tubulointerstitial Nephritis With Uveitis
Panuveitis, Circulating immune complexes, Reversible renal failure, Non-caseating epithelioid cel... OMIM:607665
Reticuloendotheliosis, X-Linked
Anemia, Hepatosplenomegaly, Lymphadenopathy, Jaundice OMIM:312500
Immunodeficiency 89 And Autoimmunity
Crohn's disease, Reduced circulating interleukin 27 concentration, Increased circulating IgA leve... OMIM:619632
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
Recurrent candida infections, Recurrent bacterial infections, Decreased circulating IgG level, T ... OMIM:242870
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Nonspherocytic hemolytic anemia, Jaundice, Splenomegaly OMIM:206400
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations
Recurrent fungal infections, Atrial septal defect, Lymphopenia, Recurrent bacterial infections, N... OMIM:614868
Immunodeficiency 25
Increased circulating IgA level, Smooth muscle antibody positivity, Eosinophilia, Complete or nea... OMIM:610163
Preeclampsia
Chronic kidney disease, Small for gestational age, Abnormality of the kidney, Increased body mass... ORPHA:275555
Cardiogenic Shock
Abnormal left ventricular function, Low pulse pressure, Increased pulmonary capillary wedge press... ORPHA:97292
Complement Component 3 Deficiency, Autosomal Recessive
Systemic lupus erythematosus, Nephrotic syndrome, Decreased serum complement C3, Membranoprolifer... OMIM:613779
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Increased circulating antibody level, Acute monocytic leukemia, Eosinophilia, Monocytosis, Congen... OMIM:202700
Immunodeficiency 16
Pancytopenia, Coombs-positive hemolytic anemia, Splenomegaly OMIM:615593
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Recurrent otitis media, Neutropenia in presence of anti-neutropil antibodies, Fluctuating splenom... OMIM:619220
Histiocytosis, Familial Lipochrome
Increased alpha-globulin, Increased circulating antibody level, Histiocytosis OMIM:235900
Systemic Capillary Leak Syndrome
Abnormal renal tubule morphology, Arrhythmia, Myocarditis, Hypotension, Oliguria, Weight loss, Re... ORPHA:188
Nephrotic Syndrome, Type 15
Nephrotic syndrome, Hypoalbuminemia, Proteinuria, Stage 5 chronic kidney disease, Minimal change ... OMIM:617609
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Abnormal hemoglobin, Thrombocytopenia, Splenomegaly ORPHA:231393
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Increased mean corpuscular volume, Thrombocytopenia, Acute myeloid leukemia OMIM:252270
Immunodeficiency, Common Variable, 5
Recurrent bacterial infections, Chronic decreased circulating total IgG, Recurrent respiratory in... OMIM:613495
Igg4-Related Aortitis
Increased circulating antibody level, Elevated circulating C-reactive protein concentration, Comp... ORPHA:449400
Carnitine-Acylcarnitine Translocase Deficiency
Elevated circulating acylcarnitine concentration, Hyperammonemia, Elevated creatine kinase after ... ORPHA:159
Immunodeficiency 86
Impaired oxidative burst, BCGitis, Decreased circulating IgG level, Increased circulating IgM level OMIM:619549
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Failure to thrive, Lymphocytic interstitial pneumonia, Splenomegaly, Recurrent urinary tract infe... OMIM:618495
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Systemic lupus erythematosus, Leukopenia, Monocytosis, Eczema, Refractory anemia, Bone marrow hyp... OMIM:616871
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Increased blood urea nitrogen, Hematuria, Elevated circulating creatinine concentration, Acute ki... OMIM:612925
Hemoglobin-Delta locus
Anemia, Imbalanced hemoglobin synthesis OMIM:142000
Diffuse Alveolar Hemorrhage
Antiphospholipid antibody positivity, Leukocytosis, Decreased serum complement C3, Anemia, Decrea... ORPHA:90060
Autoimmune Interstitial Lung, Joint, And Kidney Disease
Elevated circulating C-reactive protein concentration, Mesangial hypercellularity, Arthritis, Cre... OMIM:616414
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Increased blood urea nitrogen, Hematuria, Elevated circulating creatinine concentration, Acute ki... OMIM:612922
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Glomerulonephritis, Thrombocytopenia, Increased circulating IgA level, Hematuria OMIM:314000
Agammaglobulinemia 2, Autosomal Recessive
Decreased circulating IgA level, Recurrent bacterial infections, Decreased circulating total IgM,... OMIM:613500
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Recurrent bacterial infections, Recurrent streptococcus pneumoniae infections, Neutropenia, Recur... ORPHA:70592
Immunodeficiency 91 And Hyperinflammation
Failure to thrive, Nephrotic syndrome, Elevated circulating C-reactive protein concentration, Neu... OMIM:619644
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Increased blood urea nitrogen, Hematuria, Elevated circulating creatinine concentration, Acute ki... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Increased blood urea nitrogen, Hematuria, Elevated circulating creatinine concentration, Acute ki... OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Increased blood urea nitrogen, Hematuria, Elevated circulating creatinine concentration, Acute ki... OMIM:612926
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Systemic lupus erythematosus, Coombs-positive hemolytic anemia, Splenomegaly, Autoimmune thromboc... OMIM:619375
Hyperbilirubinemia, Shunt, Primary
Anemia of inadequate production, Hepatomegaly, Splenomegaly, Reticulocytosis, Jaundice, Erythroid... OMIM:237800
Renal Failure, Progressive, With Hypertension
Nephritis, Elevated circulating creatinine concentration, Renal insufficiency, Proteinuria, Micro... OMIM:161900
Diamond-Blackfan Anemia 3
Increased mean corpuscular volume, Persistence of hemoglobin F, Macrocytic anemia, Reticulocytope... OMIM:610629
Colchicine Poisoning
Hypomagnesemia, Hypophosphatemia, Hypokalemia, Hypocalcemia, Hypovolemia, Arrhythmia, Cardiogenic... ORPHA:31824
Heinz Body Anemias
Nonspherocytic hemolytic anemia, Heinz bodies, Heinz body anemia OMIM:140700
Hyperprolinemia Type 1
Prolinuria, Hyperprolinemia, Nephropathy, Proteinuria ORPHA:419
Lipodystrophy, Partial, Acquired, Susceptibility To
Nephrotic syndrome, Abnormal circulating lipid concentration, Decreased serum complement C3, Memb... OMIM:608709
Nephrotic Syndrome, Type 7
Nephrotic syndrome, Hemolytic anemia, Thickened glomerular basement membrane, Acute kidney injury... OMIM:615008
Erythroleukemia, Familial, Susceptibility To
Hepatomegaly, Splenomegaly, Thrombocytopenia, Anemia, Leukemia, Acute myeloid leukemia, Erythroid... OMIM:133180
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Failure to thrive, Coombs-positive hemolytic anemia, Anemia, Eosinophilia, Eczema, Autoimmune thr... OMIM:304790
Complement Component 7 Deficiency
Recurrent meningococcal disease, Recurrent Neisserial infections OMIM:610102
Anemia, Hypochromic Microcytic, With Iron Overload 1
Hypochromia, Decreased mean corpuscular volume, Anemia, Abnormality of the liver OMIM:206100
Immunodeficiency With Hyper-Igm, Type 2
Decreased circulating IgA level, Recurrent upper and lower respiratory tract infections, Recurren... OMIM:605258
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Decreased lymphocyte proliferation in response to mitogen, Failure to thrive, Increased circulati... ORPHA:169154
Immunodeficiency, Common Variable, 4
Decreased circulating IgG level, Recurrent bacterial infections, Decreased circulating total IgM,... OMIM:613494
Complement Component 4A Deficiency
Reduced hemolytic complement activity, Decreased serum complement C4, Systemic lupus erythematosu... OMIM:614380
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Hepatomegaly, Splenomegaly ORPHA:2274
Immunodeficiency, Common Variable, 3
Decreased circulating IgA level, Reduced isohemagglutinin level, Recurrent bacterial infections, ... OMIM:613493
Interstitial Nephritis, Karyomegalic
Increased blood urea nitrogen, Nephronophthisis, Glycosuria, Hematuria, Tubulointerstitial nephri... OMIM:614817
Immunodeficiency, Common Variable, 1
Decreased circulating IgA level, Neutropenia in presence of anti-neutropil antibodies, Hepatomega... OMIM:607594
Agammaglobulinemia 4, Autosomal Recessive
Decreased circulating IgA level, Neutropenia, Decreased circulating IgG level, Recurrent bacteria... OMIM:613502
Systemic Lupus Erythematosus
Antiphospholipid antibody positivity, Systemic lupus erythematosus, Nephritis, Leukopenia, Arthri... OMIM:152700
Immunodeficiency 95
Decreased circulating IgG3 level, Recurrent viral pneumonia, Lymphopenia, Increased circulating I... OMIM:619773
Hemoglobin E Disease
Hypochromia, Anemia of inadequate production, Abnormal hemoglobin, Decreased mean corpuscular vol... ORPHA:2133
Hemorrhagic Fever-Renal Syndrome
Melena, Decreased glomerular filtration rate, Hematuria, Elevated circulating creatinine concentr... ORPHA:340
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly OMIM:183350
Acquired Partial Lipodystrophy
Lymphocytosis, Decreased serum complement C3, Autoimmunity, Proteinuria, Glomerulopathy, Microsco... ORPHA:79087
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Increased mean corpuscular volume, Neutropenia, Pancytopenia, Bone marrow hypocellularity, Anemia... OMIM:619041
Igg4-Related Retroperitoneal Fibrosis
Elevated circulating C-reactive protein concentration, Rheumatoid arthritis, Rheumatoid factor po... ORPHA:49041
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive
Recurrent fungal infections, Eosinophilic infiltration of the esophagus, Cerebral vasculitis, Ecz... OMIM:243700
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Recurrent mycobacterial infections, Recurrent gastroenteritis, Recurrent upper and lower respirat... ORPHA:275
Autoimmune Hepatitis
Increased circulating antibody level, Liver kidney microsome type 1 antibody positivity, Viral he... ORPHA:2137
Igg4-Related Kidney Disease
Abnormal ureter morphology, Elevated circulating C-reactive protein concentration, Pancreatitis, ... ORPHA:449395
Thymoma
Systemic lupus erythematosus, Rheumatoid arthritis, Abnormal lymphocyte physiology, Aplastic anem... ORPHA:99867
Microscopic Polyangiitis
Arrhythmia, Hematuria, Vasculitis, Oliguria, Renal insufficiency, Glomerulopathy, Gastrointestina... ORPHA:727
Agammaglobulinemia 6, Autosomal Recessive
Decreased circulating IgA level, Decreased circulating IgG level, Recurrent bacterial infections,... OMIM:612692
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Lack of T cell function, Failure to thrive, Sinusitis, Inflammatory abnormality of the skin, Lymp... ORPHA:277
Autoimmune Lymphoproliferative Syndrome
Abnormal proportion of CD8-positive T cells, Gastritis, Rheumatoid factor positive, Uveitis, Bone... ORPHA:3261
Immunodeficiency By Defective Expression Of Mhc Class Ii
Recurrent protozoan infections, Recurrent infection of the gastrointestinal tract, Chronic hepati... ORPHA:572
Cryohydrocytosis
Hemolytic anemia, Reticulocytosis, Stomatocytosis, Splenomegaly OMIM:185020
Immunodeficiency With Hyper-Igm, Type 5
Decreased circulating IgA level, Recurrent upper and lower respiratory tract infections, Decrease... OMIM:608106
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency
Recurrent candida infections, Recurrent mycobacterial infections, Histoplasmosis, Severe toxoplas... ORPHA:319552
Immunodeficiency 84
Splenomegaly, Recurrent bacterial infections, B lymphocytopenia, Perianal abscess, Persistent EBV... OMIM:619437
Diffuse Cutaneous Systemic Sclerosis
Telangiectasia of the skin, Flexion contracture, Oliguria, Renal insufficiency, Hypertensive cris... ORPHA:220393
Pgm3-Cdg
Abnormal proportion of CD8-positive T cells, Eczema, Rheumatoid factor positive, Chronic sinusiti... ORPHA:443811
Lysine Malabsorption Syndrome
Renal tubular lysine transport defect, Hyperlysinuria OMIM:247950
Immunodeficiency 34
Recurrent mycobacterial infections, Severe recurrent varicella OMIM:300645
Immunodeficiency 30
Recurrent mycobacterial infections, Recurrent infections OMIM:614891
Immunodeficiency 97 With Autoinflammation
Increased circulating ferritin concentration, Hemophagocytosis, Eczema, Decreased proportion of C... OMIM:619802
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Discoid lupus rash, Recurrent bacterial skin infections, Eczematoid dermatitis, Hepatomegaly, Ost... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Discoid lupus rash, Recurrent bacterial skin infections, Eczematoid dermatitis, Hepatomegaly, Ost... OMIM:233710
Hypercalcemia, Infantile, 2
Renal phosphate wasting, Failure to thrive, Hypophosphatemia, Polyuria, Hypercalciuria, Hypercalc... OMIM:616963
Immunodeficiency 35
Recurrent mycobacterial infections, Recurrent fungal infections, Recurrent viral infections, Incr... OMIM:611521
Nephrotic Syndrome, Type 23
Mesangial hypercellularity, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosclero... OMIM:619201
Autoinflammation With Arthritis And Dyskeratosis
Failure to thrive, Elevated circulating C-reactive protein concentration, Increased circulating I... OMIM:617388
Aneurysm Of Sinus Of Valsalva
Bacterial endocarditis, Heart murmur, Oliguria, Aortic regurgitation, Congestive heart failure ORPHA:1054
Bare Lymphocyte Syndrome, Type Ii
Recurrent protozoan infections, Failure to thrive, Colitis, Viral hepatitis, Recurrent fungal inf... OMIM:209920
Adult Idiopathic Neutropenia
Lymphopenia, Monocytosis, Increased circulating IgM level, Recurrent aphthous stomatitis, Neutrop... ORPHA:2688
Simple Cryoglobulinemia
Nephrotic syndrome, Mesangial hypercellularity, Nephritis, Viral hepatitis, Complement deficiency... ORPHA:91139
Oculogastrointestinal Muscular Dystrophy
Malabsorption, Abnormal gastric mucosa morphology, Cachexia, Abnormality of the gastrointestinal ... ORPHA:1876
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Gastritis, Eczema, Decreased prealbumin level, Anti-thyroid peroxidase antibody positivity, Anti-... ORPHA:37042
Saccharopinuria
Histidinuria, Citrullinuria, Elevated circulating sacchoropine concentration, Hyperlysinuria, Sac... OMIM:268700
Sting-Associated Vasculopathy, Infantile-Onset
Failure to thrive, Antiphospholipid antibody positivity, Elevated circulating C-reactive protein ... OMIM:615934
Immunodeficiency With Hyper-Igm, Type 3
Decreased circulating IgA level, Decreased circulating IgG level, Impaired memory B cell generati... OMIM:606843
Complement Factor D Deficiency
Recurrent bacterial infections OMIM:613912
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Discoid lupus rash, Recurrent bacterial skin infections, Eczematoid dermatitis, Hepatomegaly, Ost... OMIM:233690
Immunodeficiency 72 With Autoinflammation
Herpes simplex encephalitis, Hepatosplenomegaly, Increased circulating IgG level, Increased B cel... OMIM:618982
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Complement Component 8 Deficiency, Type Ii
Meningitis, Recurrent Neisserial infections OMIM:613789
Focal Segmental Glomerulosclerosis 1
Hyperlipidemia, Focal segmental glomerulosclerosis, Proteinuria, Hypoalbuminemia, Anemia, Stage 5... OMIM:603278
Cystinuria
Nephrolithiasis, Argininuria, Cystinuria, Recurrent urinary tract infections, Hyperlysinuria, Orn... OMIM:220100
Schimke Immuno-Osseous Dysplasia
Pancreatitis, Impaired T cell function, Abnormal proportion of naive CD4 T cells, Proteinuria, Bo... ORPHA:1830
Focal Segmental Glomerulosclerosis 6
Chronic kidney disease, Nephrotic syndrome, Renal tubular atrophy, Hematuria, Focal segmental glo... OMIM:614131
Immunodeficiency With Hyper-Igm, Type 4
Autoimmune hemolytic anemia, Osteomyelitis, Recurrent infection of the gastrointestinal tract, Re... OMIM:608184
Hyper-Beta-Alaninemia
Hyperbeta-alaninemia, Failure to thrive, Increased urinary taurine OMIM:237400
Complement Component 6 Deficiency
Recurrent meningococcal disease OMIM:612446
Lysinuric Protein Intolerance
Increased circulating ferritin concentration, Pancreatitis, Decreased glomerular filtration rate,... ORPHA:470
Spherocytosis, Type 5
Spherocytosis, Abnormal leukocyte count, Splenomegaly, Hemolytic anemia, Abnormal platelet count,... OMIM:612690
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive
Cutaneous abscess, Increased circulating interleukin 6 concentration, Decreased circulating IgG l... OMIM:618944
Immunodeficiency, Common Variable, 2
Decreased circulating IgA level, Hepatomegaly, Decreased circulating IgG level, Splenomegaly, Rec... OMIM:240500
Red Cell Phospholipid Defect With Hemolysis
Reticulocytosis, Intermittent jaundice, Splenomegaly OMIM:179700
Immunoerythromyeloid Hypoplasia
Decreased circulating IgG level, Erythroid hypoplasia OMIM:242880
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Hepatomegaly, Sepsis, Recurrent opportunistic infections, Pneumonia, Recurrent Haemophilus influe... ORPHA:276
Hyperprolinemia, Type Ii
Hydroxyprolinuria, Prolinuria, Hyperprolinemia, Hyperglycinuria OMIM:239510
Ficolin 3 Deficiency
Necrotizing enterocolitis, Recurrent abscess formation, Recurrent lower respiratory tract infecti... OMIM:613860
Immunodeficiency 23
Failure to thrive, Lymphopenia, Eosinophilia, Membranoproliferative glomerulonephritis, Rheumatoi... OMIM:615816
Cd8 Deficiency, Familial
Recurrent bacterial infections, Bronchiectasis, Recurrent viral infections, Absence of CD8-positi... OMIM:608957
Ménétrier Disease
Abnormal gastric mucosa morphology, Gastroesophageal reflux, Multiple gastric polyps, Stomach can... ORPHA:2494
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Chronic kidney disease, Renal tubular atrophy, Hyperechogenic kidneys, Tubulointerstitial fibrosi... OMIM:613092
Nephrotic Syndrome, Type 2
Hyperlipidemia, Nephrotic syndrome, Focal segmental glomerulosclerosis, Proteinuria, Hypoalbumine... OMIM:600995
Neutrophil Immunodeficiency Syndrome
Abnormality of neutrophil physiology, Leukocytosis ORPHA:183707
Nephrotic Syndrome, Type 9
Nephrotic syndrome, Focal segmental glomerulosclerosis, Proteinuria, Hypoalbuminemia, Stage 5 chr... OMIM:615573
Transcobalamin Deficiency
Decreased circulating IgA level, Decreased circulating IgG level, Lymphopenia, Methylmalonic acid... ORPHA:859
Insulin Autoimmune Syndrome
Increased circulating antibody level, Systemic lupus erythematosus, Autoimmune antibody positivit... ORPHA:411593
Pauci-Immune Glomerulonephritis
Pancreatitis, Nephrotic range proteinuria, Decreased glomerular filtration rate, Arteritis, Macro... ORPHA:93126
Dibasic Amino Aciduria I
Argininuria, Hyperlysinuria, Ornithinuria, Dibasicaminoaciduria OMIM:222690
Congenital Disorder Of Glycosylation, Type Iic
Periodontitis, Neutrophilia, Bronchiolitis, Pneumonia, Recurrent otitis media, Reduction of neutr... OMIM:266265
Combined Immunodeficiency Due To Zap70 Deficiency
Recurrent infection of the gastrointestinal tract, Stroke, Lymphadenitis, Recurrent opportunistic... ORPHA:911
Renal Tubular Dysgenesis
Anuria, Abnormality of the urinary system, Renotubular dysgenesis, Hypotension OMIM:267430
Idiopathic Steroid-Resistant Nephrotic Syndrome
Abnormal urine output, Diffuse mesangial sclerosis, Abnormal circulating lipid concentration, Per... ORPHA:567548
Focal Segmental Glomerulosclerosis 10
Focal segmental glomerulosclerosis, Proteinuria, Renal insufficiency, Stage 5 chronic kidney dise... OMIM:256020
Chilblain Lupus
Increased circulating antibody level, Antiphospholipid antibody positivity, Systemic lupus erythe... ORPHA:90280
Autosomal Dominant Severe Congenital Neutropenia
Periodontitis, Lymphopenia, Rhinitis, Recurrent skin infections, Eosinophilia, Antineutrophil ant... ORPHA:486
Griscelli Syndrome, Type 2
Recurrent bacterial infections, Hepatosplenomegaly, Reduced delayed hypersensitivity, Hemophagocy... OMIM:607624
Autoinflammatory-Pancytopenia Syndrome
Failure to thrive, Hemophagocytosis, Intestinal inflammation, Hepatosplenomegaly, Membranoprolife... OMIM:619858
Acute Monoblastic/Monocytic Leukemia
Oliguria, Weight loss ORPHA:514
Immunodeficiency 12
Recurrent viral infections, Recurrent bacterial infections OMIM:615468
Delta-Beta-Thalassemia
Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231237
Nephrotic Syndrome, Type 11
Nephrotic syndrome, Renal tubular atrophy, Diffuse mesangial sclerosis, IgA deposition in the glo... OMIM:616730
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Hypophosphatemia, Renal tubular atrophy, Aminoaciduria, Hyposthenuria, Glycosuria, Hypercalciuria... OMIM:308990
Hypercalcemia, Infantile, 1
Nephrolithiasis, Failure to thrive, Aortic valve stenosis, Pulmonic stenosis, Polyuria, Hypercalc... OMIM:143880
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Splenomegaly, Extramedullary hematopoiesis, Leukopenia, Neutropenia, Anemia, Thromb... OMIM:615285
Sepsis In Premature Infants
Decreased body weight, Elevated circulating C-reactive protein concentration, Small for gestation... ORPHA:90051
Immunodeficiency 102
Partial absence of specific antibody response to unconjugated pneumococcus vaccine, B lymphocytop... OMIM:301082
Lassa Fever
Oliguria, Shock ORPHA:99824
Overhydrated Hereditary Stomatocytosis
Splenomegaly, Anisocytosis, Abnormal mean corpuscular volume, Hemolytic anemia, Decreased mean co... ORPHA:3203
Intrinsic Factor Deficiency
Increased mean corpuscular volume, Megaloblastic anemia, Megaloblastic erythroid hyperplasia OMIM:261000
Purine Nucleoside Phosphorylase Deficiency
Failure to thrive, Sinusitis, Neutropenia in presence of anti-neutropil antibodies, Lymphopenia, ... OMIM:613179
Genetic Steroid-Resistant Nephrotic Syndrome
Chronic kidney disease, Diffuse mesangial sclerosis, Peritonitis, Focal segmental glomerulosclero... ORPHA:656
Whim Syndrome 1
Decreased circulating IgG level, Recurrent bacterial infections, Recurrent upper respiratory trac... OMIM:193670
Cernunnos-Xlf Deficiency
Lymphopenia, Recurrent bacterial infections, B lymphocytopenia, T lymphocytopenia, Decreased circ... ORPHA:169079
Acetophenetidin Sensitivity
Hemolytic anemia, Methemoglobinemia OMIM:200300
Neutropenia, Chronic Familial
Increased circulating antibody level, Periodontitis, Neutropenia OMIM:162700
Immunoglobulin A Deficiency 2
Decreased circulating IgA level, Autoimmunity, Abnormal lymphocyte morphology OMIM:609529
Thymic Aplasia
Recurrent streptococcus pneumoniae infections, Recurrent infection of the gastrointestinal tract,... ORPHA:83471
Selective Igm Deficiency
Keratitis, Onychomycosis, Recurrent infection of the gastrointestinal tract, Otitis media, Rheuma... ORPHA:331235
Anemia, Congenital Dyserythropoietic, Type Ii
Cholelithiasis, Anemia of inadequate production, Splenomegaly, Reticulocytosis, Jaundice OMIM:224100
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Failure to thrive, Chronic kidney disease, Hypomagnesemia, Type 2 muscle fiber atrophy, Polyuria,... OMIM:613845
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Hepatomegaly, Lymphadenitis, Abnormal B cell count, Recurrent viral infections, Abnormal T cell c... ORPHA:331206
Nk-Cell Enteropathy
Abnormal gastric mucosa morphology, Gastroesophageal reflux, Intestinal polyp, Duodenal ulcer, St... ORPHA:263665
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome
Failure to thrive, Aminoaciduria ORPHA:2278
Fibromuscular Dysplasia, Arterial
Intermittent claudication, Stroke, Renovascular hypertension, Myocardial infarction, Aortic disse... OMIM:135580
Thrombocytopenia, Anemia, And Myelofibrosis
Anemia, Thrombocytopenia, Anisopoikilocytosis, Splenomegaly OMIM:617441
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Recurrent pancreatitis, Splenomegaly OMIM:118830
Camptodactyly 1
Camptodactyly of finger, Increased urinary taurine OMIM:114200
Camptodactyly-Taurinuria Syndrome
Camptodactyly of toe, Camptodactyly of finger, Increased urinary taurine, Aminoaciduria ORPHA:1325
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization
Glomerulonephritis, Nephrotic syndrome, Renal insufficiency, Glomerular deposits ORPHA:69063
Muscular Dystrophy, Cardiac Type
Muscular dystrophy, Elevated circulating creatine kinase concentration, Abnormal EKG, Carnosinuri... OMIM:309930
Galloway-Mowat Syndrome 8
Nephrotic syndrome, Renal tubular atrophy, Hematuria, Focal segmental glomerulosclerosis, Protein... OMIM:618349
Insulin-Resistance Syndrome Type B
Abnormal circulating fatty-acid concentration, Glycosuria, Proteinuria, Pneumonia, Increased body... ORPHA:2298
Immunodeficiency With Hyper-Igm, Type 1
Hepatomegaly, Impaired memory B cell generation, Sepsis, Decreased circulating IgE, Decreased cir... OMIM:308230
Iminoglycinuria
Hydroxyprolinuria, Prolinuria, Hyperglycinuria OMIM:242600
Iminoglycinuria
Hydroxyprolinuria, Prolinuria, Hyperglycinuria ORPHA:42062
Nephrotic Syndrome, Type 10
Podocyte foot process effacement, Minimal change glomerulonephritis, Nephrotic syndrome, Steroid-... OMIM:615861
Chronic Intestinal Pseudoobstruction
Intestinal malrotation, Abnormal intestine morphology, Patent ductus arteriosus, Pyloric stenosis ORPHA:2978
Postinfectious Vasculitis
Elevated circulating C-reactive protein concentration, Rheumatoid factor positive, Hematuria, Inc... ORPHA:48435
Idiopathic Pulmonary Hemosiderosis
Failure to thrive, Smooth muscle antibody positivity, Antineutrophil antibody positivity, Hepatos... ORPHA:99931
Atypical Hemolytic Uremic Syndrome
Decreased serum complement factor B, Decreased serum complement factor I, Complement deficiency, ... ORPHA:2134
Car T Cell Therapy-Associated Cytokine Release Syndrome
Hyperbilirubinemia, Hypoxemia, Tachycardia, Arrhythmia, Hypotension, Elevated circulating creatin... ORPHA:542323
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Crohn's disease, Onychomycosis, Lymphopenia, Splenomegaly, Recurrent tonsillitis, Hepatosplenomeg... OMIM:618935
Alpha-Thalassemia
Cholelithiasis, Abnormal hemoglobin, Splenomegaly, Hemolytic anemia, Microcytic anemia, Anemia, J... ORPHA:846
Neutrophil Actin Dysfunction
Recurrent bacterial infections OMIM:257150
Immunodeficiency 28
Recurrent mycobacterial infections OMIM:614889
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hypochromia, Decreased mean corpuscular volume, Hepatomegaly, Splenomegaly, Poikilocytosis, Anemia OMIM:615234
Anemia, Congenital Dyserythropoietic, Type Ib
Anemia of inadequate production, Hepatomegaly, Splenomegaly, Anemia, Anisocytosis, Poikilocytosis... OMIM:615631
Valinemia
Failure to thrive, Hypervalinemia, Valinuria OMIM:277100
Hereditary Renal Hypouricemia
Chronic kidney disease, Increased blood urea nitrogen, Decreased glomerular filtration rate, Abno... ORPHA:94088
Homozygous 11P15-P14 Deletion Syndrome
Renal tubular dysfunction, Generalized aminoaciduria, Failure to thrive OMIM:606528
Asplenia, Isolated Congenital
Thrombocytosis, Asplenia, Howell-Jolly bodies OMIM:271400
Immunodeficiency 38 With Basal Ganglia Calcification
Recurrent mycobacterial infections OMIM:616126
Persistent Polyclonal B-Cell Lymphocytosis
Hepatomegaly, Lymphocytosis, Splenomegaly OMIM:606445
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Decreased serum complement factor H, Hyperlipidemia, Decreased serum complement factor B, Increas... OMIM:235400
Immunodeficiency 50
Lymphopenia, Eczema, Recurrent urinary tract infections, Decreased circulating antibody level, Ne... OMIM:300988
Complement Component C1R/C1S Deficiency
Discoid lupus rash, Nephritis, Complement deficiency, Arthritis, Autoimmunity OMIM:216950
Thrombotic Thrombocytopenic Purpura
Decreased serum creatinine, Hematuria, Renal insufficiency, Acute kidney injury, Proteinuria, Mic... ORPHA:54057
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment
Elevated circulating creatinine concentration, Nephropathy, Decreased glomerular filtration rate OMIM:242530
Lymphoproliferative Syndrome, X-Linked, 1
Neutropenia, Decreased circulating IgG level, Elevated circulating C-reactive protein concentrati... OMIM:308240
Mu-Heavy Chain Disease
Increased circulating antibody level, Bence Jones Proteinuria, Splenomegaly, Anemia, Nephropathy,... ORPHA:100024
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Anemia of inadequate production, Anisocytosis, Oval macrocytosis, Poikilocytosis OMIM:603529
Familial Pseudohyperkalemia
Increased mean corpuscular volume, Reticulocytosis, Episodic hemolytic anemia, Stomatocytosis ORPHA:90044
Lipoprotein Glomerulopathy
Glomerulopathy, Mesangial hypercellularity, Renal insufficiency, Proteinuria OMIM:611771
Caspase 8 Deficiency
Failure to thrive, Decreased circulating IgA level, Decreased circulating IgG level, Splenomegaly... OMIM:607271
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Decreased circulating IgG level, Abnormally low T cell receptor excision circle level, Decreased ... OMIM:618987
Nephronophthisis-Like Nephropathy 2
Polyuria, Elevated circulating creatinine concentration, Periglomerular fibrosis, Renal insuffici... OMIM:619468
Immunodeficiency 31B
Recurrent mycobacterial infections, Recurrent viral infections, Herpes simplex encephalitis OMIM:613796
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis
Nephrotic syndrome, Decreased serum complement C3, Membranoproliferative glomerulonephritis, Hema... OMIM:613913
Dehydrated Hereditary Stomatocytosis
Cholelithiasis, Anemia of inadequate production, Increased mean corpuscular volume, Nonspherocyti... ORPHA:3202
Severe Combined Immunodeficiency, X-Linked
Failure to thrive, Decreased circulating IgA level, Decreased circulating IgG level, Chronic oral... OMIM:300400
Tiglic Acidemia
Aminoaciduria OMIM:275190
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1
Renal tubular atrophy, Nephritis, Decreased glomerular filtration rate, Nephropathy, Renal insuff... OMIM:162000
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Splenomegaly, Anemia, Anisocytosis, Poikilocytosis, Congenital hemolytic anemia, Chronic hemolyti... ORPHA:766
Immunodeficiency 81
Impaired collagen-induced platelet aggregation, Skin rash, Abnormally low T cell receptor excisio... OMIM:619374
Inclusion Body Myositis
Elevated circulating creatine kinase concentration, Autoimmunity ORPHA:611
Retinal Telangiectasia And Hypogammaglobulinemia
Reduced delayed hypersensitivity, Decreased circulating IgG level OMIM:267900
Galactosemia Iii
Hypergalactosemia, Failure to thrive, Aminoaciduria, Galactosuria OMIM:230350
Immunodeficiency 105
Decreased circulating IgA level, Lymphopenia, Decreased circulating IgG level, Skin rash, Decreas... OMIM:619924
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal mitral valve morphology, Anomalous pulmonary venous return, Hepatomegaly, Abnormal coron... ORPHA:860
Ichthyosis, Split Hairs, And Amino Aciduria
Aminoaciduria OMIM:242550
Lymphoproliferative Syndrome 1
Increased circulating ferritin concentration, Elevated circulating C-reactive protein concentrati... OMIM:613011
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Failure to thrive, Decreased circulating IgA level, Recurrent skin infections, Decreased serum cr... OMIM:617744
Sickle Cell Anemia
Increased mean corpuscular volume, Leukocytosis, Hypochromic anemia, Persistence of hemoglobin F,... ORPHA:232
Dicarboxylic Aminoaciduria
Nephrolithiasis, Aminoaciduria, Aspartic aciduria OMIM:222730
Granulomatous Disease, Chronic, X-Linked
Discoid lupus rash, Recurrent bacterial skin infections, Eczematoid dermatitis, Hepatomegaly, Ost... OMIM:306400
Hepatic Venoocclusive Disease With Immunodeficiency
Decreased circulating IgG level OMIM:235550
Brucellosis
Elevated circulating C-reactive protein concentration, Rheumatoid factor positive, Myocarditis, E... ORPHA:1304
Lujo Hemorrhagic Fever
Elevated circulating C-reactive protein concentration, Myocarditis, Hypotension, Oliguria, Shock,... ORPHA:319213
Thrombotic Thrombocytopenic Purpura, Hereditary
Increased blood urea nitrogen, Abnormal renal physiology, Schistocytosis, Elevated circulating cr... OMIM:274150
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Chronic tubulointerstitial nephritis, Renal hypoplasia, Elevated circulating creatinine concentra... OMIM:614376
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Chronic gastritis, Rheumatoid arthritis, Sepsis, Epididymitis, Chronic sinusitis, Pneumonia, Decr... ORPHA:183675
Fibronectin Glomerulopathy
Nephrotic syndrome, Abnormal glomerular mesangium morphology, Renal insufficiency, Proteinuria, H... ORPHA:84090
Agammaglobulinemia 1, Autosomal Recessive
Failure to thrive, Neutropenia, Recurrent bacterial infections, B lymphocytopenia, Panhypogammagl... OMIM:601495
Lymphoid System Deterioration, Progressive
Decreased circulating total IgM, Abnormal T cell morphology, Decreased circulating IgG level, Lym... OMIM:247630
C3 Glomerulopathy 3
Renal insufficiency, Glomerulonephritis, Hematuria, Stage 5 chronic kidney disease OMIM:614809
Seizures-Intellectual Disability Due To Hydroxylysinuria Syndrome
Aminoaciduria ORPHA:79156
Agammaglobulinemia 9, Autosomal Recessive
Failure to thrive, Eczematoid dermatitis, Recurrent bacterial infections, Absent circulating B ce... OMIM:619693
Carnosinemia
Carnosinuria OMIM:212200
Hydroxylysinuria
Hyperlysinuria OMIM:236900
Nephrotic Syndrome, Type 3
Nephrotic syndrome, Diffuse mesangial sclerosis, Focal segmental glomerulosclerosis, Proteinuria,... OMIM:610725
Carnosinase Deficiency
Carnosinuria ORPHA:1361
Erythrocytosis, Familial, 8
Cholelithiasis, Nonspherocytic hemolytic anemia, Splenomegaly, Polycythemia, Normocytic anemia, C... OMIM:222800
Immunodeficiency 33
Increased circulating IgA level, Recurrent bacterial infections, Decreased circulating total IgM,... OMIM:300636
Omenn Syndrome
Failure to thrive, Recurrent fungal infections, Hepatomegaly, Splenomegaly, Recurrent bacterial i... OMIM:603554
Paternal Uniparental Disomy Of Chromosome 1
Episodic hemolytic anemia, Increased blood urea nitrogen, Macroscopic hematuria, Membranoprolifer... ORPHA:251004
Alport Syndrome 3, Autosomal Dominant
Nephrotic syndrome, Hypophosphatemia, Nephritis, Azotemia, Hematuria, Thickened glomerular baseme... OMIM:104200
Holoprosencephaly, Recurrent Infections, And Monocytosis
Failure to thrive, Recurrent skin infections, Monocytosis, Micropenis OMIM:610680
Familial Aortic Dissection
Carotid artery dilatation, Peripheral arterial stenosis, Abnormal left ventricular function, Stro... ORPHA:229
Tn Polyagglutination Syndrome
Autoimmunity, Abnormal erythrocyte morphology OMIM:300622
Exercise-Induced Malignant Hyperthermia
Hypocalcemia, Abnormal pulse pressure, Abnormal T-wave, ST segment depression, Elevated circulati... ORPHA:466650
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, B lymphocytopenia, Neutropenia OMIM:613107
Spherocytosis, Type 2
Spherocytosis, Splenomegaly, Acanthocytosis, Hemolytic anemia, Reticulocytosis, Jaundice OMIM:616649
Spherocytosis, Type 4
Spherocytosis, Splenomegaly, Hemolytic anemia, Reticulocytosis, Jaundice OMIM:612653
Agammaglobulinemia 10, Autosomal Dominant
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... OMIM:619707
Bone Marrow Failure And Diabetes Mellitus Syndrome
Increased mean corpuscular volume, T-cell acute lymphoblastic leukemias, Pancytopenia OMIM:620044
Lecithin:Cholesterol Acyltransferase Deficiency
Decreased HDL cholesterol concentration, Hemolytic anemia, Hypertriglyceridemia, Renal insufficie... OMIM:245900
Immunodeficiency 60 And Autoimmunity
Crohn's disease, Decreased circulating IgA level, Colitis, Decreased circulating IgG level, Bronc... OMIM:618394
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease
Hypertension, Renal insufficiency, Decreased glomerular filtration rate, Stage 5 chronic kidney d... OMIM:618061
Nephrotic Syndrome, Type 6
Nephrotic syndrome, Tubulointerstitial fibrosis, Focal segmental glomerulosclerosis, Hypoalbumine... OMIM:614196
Agammaglobulinemia 8B, Autosomal Recessive
Failure to thrive, Decreased circulating IgA level, Decreased circulating IgG level, Decreased pr... OMIM:619824
Nephronophthisis 1
Renal tubular atrophy, Nephronophthisis, Polyuria, Hyposthenuria, Tubulointerstitial fibrosis, Tu... OMIM:256100
Immunodeficiency 52
Failure to thrive, Lymphopenia, Coombs-positive hemolytic anemia, Increased proportion of gamma-d... OMIM:617514
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Lymphopenia, Splenomegaly, Autoimmune thrombocytopenia, Hemolytic anemia, Hepatitis, Autoimmune h... ORPHA:444463
Neutropenia, Severe Congenital, X-Linked
Recurrent bacterial infections, Eczema, Neutropenia, Decreased CD4:CD8 ratio, Monocytopenia OMIM:300299
Nephrotic Syndrome, Type 8
Chronic kidney disease, Nephrotic syndrome, Diffuse mesangial sclerosis, Proteinuria, Hypoalbumin... OMIM:615244
Lcat Deficiency
Decreased glomerular filtration rate, Decreased circulating apolipoprotein AI concentration, Decr... ORPHA:650
Trimethylaminuria
Anemia, Neutropenia, Splenomegaly OMIM:602079
Immunodeficiency 36
Decreased circulating IgA level, Decreased circulating IgG level, Lymphopenia, Splenomegaly, Recu... OMIM:616005
Relapsing Fever
Elevated circulating C-reactive protein concentration, Neutrophilia, Leukocytosis, Leukopenia, Ab... ORPHA:91547
Gracile Syndrome
Increased circulating ferritin concentration, Increased serum pyruvate, Aminoaciduria, Increased ... OMIM:603358
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Decreased circulating IgA level, Nephrotic syndrome, Small for gestational age, Proteinuria, Muco... OMIM:215250
3-Hydroxyisobutyric Aciduria
Failure to thrive, Aminoaciduria OMIM:236795
Aortic Aneurysm, Familial Thoracic 4
Abnormal left ventricular function, Posterior cerebral artery stenosis, Stroke, Thoracic aortic a... OMIM:132900
Bacterial Toxic-Shock Syndrome
Abscess, Myocarditis, Elevated circulating creatinine concentration, Pneumonia, Septic arthritis,... ORPHA:36234
Immune Deficiency Disease
Recurrent bacterial infections, Fulminant hepatitis, Decreased circulating total IgM, Cholangitis... OMIM:242850
Cholestasis, Progressive Familial Intrahepatic, 12
Hyperbilirubinemia, Splenomegaly, Conjugated hyperbilirubinemia, Proteinuria, Increased serum bil... OMIM:620010
Woronets Trait
Red blood cell keratocytosis OMIM:194320
Infection-Related Hemolytic Uremic Syndrome
Hypocalcemia, Nephrotic range proteinuria, Hyperkalemia, Myocarditis, Oliguria, Acute kidney inju... ORPHA:544482
Immunodeficiency 103, Susceptibility To Fungal Infections
Abnormal proportion of CD8-positive T cells, Chronic oral candidiasis, Abnormal B cell count, Dec... OMIM:212050
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Renal tubular atrophy, Decreased glomerular filtration rate, Impaired renal uric acid clearance, ... OMIM:174000
Hyperglycinuria
Calcium oxalate nephrolithiasis, Hyperglycinuria OMIM:138500
Elliptocytosis 1
Hemolytic anemia, Elliptocytosis, Jaundice, Splenomegaly OMIM:611804
Renal Glucosuria
Polyuria, Glycosuria, Enuresis nocturna OMIM:233100
Ethylene Glycol Poisoning
Renal tubular dysfunction, Hypocalcemia, Cyanosis, Tachycardia, Facial palsy, Hematuria, Hypotens... ORPHA:31826
Galloway-Mowat Syndrome 7
Nephrotic syndrome, Renal tubular atrophy, Diffuse mesangial sclerosis, Eczema, IgA deposition in... OMIM:618348
Orthostatic Hypotension 2
Orthostatic hypotension, Decreased glomerular filtration rate OMIM:618182
Indolylacroyl Glycinuria With Mental Retardation
Hyperglycinuria OMIM:243050
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Liver kidney microsome type 1 antibody positivity, Hyperbilirubinemia, Smooth muscle antibody pos... ORPHA:562639
5-Oxoprolinase Deficiency
Prolinuria, Calcium oxalate nephrolithiasis, Increased level of L-pyroglutamic acid in urine OMIM:260005
Anti-Glomerular Basement Membrane Disease
Hematuria, Arthritis, Autoimmunity, Renal insufficiency, Proteinuria, Glomerulopathy, Anemia ORPHA:375
Overhydrated Hereditary Stomatocytosis
Hepatomegaly, Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis, Jaundice OMIM:185000
Glomerulopathy With Fibronectin Deposits 1
Nephrotic syndrome, Nephropathy, Renal insufficiency, Proteinuria, Glomerulopathy, Lobular glomer... OMIM:137950
Adenosine Triphosphate, Elevated, Of Erythrocytes
Polycythemia, Reduced erythrocyte 2,3-diphosphoglycerate concentration OMIM:102900
Aorto-Ventricular Tunnel
Abnormal coronary artery morphology, Heart murmur, Aorto-ventricular tunnel, Aortic root aneurysm... ORPHA:3400
Cystathioninuria
Cystathioninuria OMIM:219500
Beta-Aminoisobutyric Aciduria
Beta-aminoisobutyric aciduria OMIM:210100
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Lymphadenitis, Sepsis, B lymphocytopenia, Pancytopenia, Monocytopenia, Severe varicella zoster in... OMIM:618986
Oligomeganephronia
Secundum atrial septal defect, Renal tubular atrophy, Decreased glomerular filtration rate, Small... ORPHA:2260
Glomerulopathy With Fibronectin Deposits 2
Nephrotic syndrome, Glomerular deposits, Glomerulomegaly, Renal insufficiency, Proteinuria, Micro... OMIM:601894
Senior-Loken Syndrome 4
Polyuria, Nephronophthisis, Stage 5 chronic kidney disease OMIM:606996
Solute carrier family 4 (anion exchanger), member 1
Spherocytosis, Splenomegaly, Acanthocytosis, Hemolytic anemia, Elliptocytosis, Stomatocytosis, Re... OMIM:109270
Cholera
Hypokalemia, Hypocalcemia, Abnormality of renal excretion, Hypovolemic shock, Tachycardia, Hypote... ORPHA:173
Autoimmune Hemolytic Anemia, Cold Type
Abnormal leukocyte morphology, Hemolytic anemia, Splenomegaly ORPHA:228312
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Eczema, B lymphocytopenia, Erythroderma, Recurrent viral infections, Decreased proportion of CD4+... OMIM:606367
X-Linked Lymphoproliferative Disease
Increased circulating ferritin concentration, Hemophagocytosis, Aplastic anemia, B lymphocytopeni... ORPHA:2442
Nephrotic Syndrome, Type 1
Congenital nephrotic syndrome, Hyperlipidemia, Renal tubular atrophy, Diffuse mesangial sclerosis... OMIM:256300
Pediatric Systemic Lupus Erythematosus
Discoid lupus rash, Decreased serum complement C4, Hematuria, Proteinuria, Microangiopathic hemol... ORPHA:93552
Combined Immunodeficiency, X-Linked
Sinusitis, Decreased circulating IgG level, Otitis media, Decreased proportion of CD8-positive T ... OMIM:312863
Immunodeficiency, Common Variable, 11
Failure to thrive, Crohn's disease, Decreased circulating IgG level, Inflammation of the large in... OMIM:615767
Coenzyme Q10 Deficiency, Primary, 8
Abnormal renal corticomedullary differentiation, Elevated circulating creatinine concentration, R... OMIM:616733
Autoinflammation With Episodic Fever And Lymphadenopathy
Hepatomegaly, Recurrent tonsillitis, Splenomegaly, Microcytic anemia, Lymphadenopathy OMIM:618852
Multiple Myeloma
Nephrotic syndrome, Increased circulating IgA level, Splenomegaly, Anemia, Hyperproteinemia, Neph... ORPHA:29073
Immunodeficiency, Common Variable, 13
Recurrent bacterial infections, B lymphocytopenia, Decreased circulating antibody level, Pancytop... OMIM:616873
Preeclampsia/Eclampsia 1
Thrombocytopenia, Proteinuria OMIM:189800
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hypochromia, Decreased mean corpuscular volume, Hepatomegaly, Splenomegaly, Cirrhosis, Hepatosple... OMIM:616860
Complement Factor B Deficiency
Recurrent bacterial infections, Peritonitis, Recurrent meningococcal disease, Meningitis, Pneumonia OMIM:615561
Diamond-Blackfan Anemia 8
Increased mean corpuscular volume, Neutropenia, Macrocytic anemia OMIM:612563
Phenylketonuria
Aminoaciduria ORPHA:716
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Failure to thrive, Hypokalemia, Decreased glomerular filtration rate, Increased urinary potassium... OMIM:613090
Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities
Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease OMIM:614199
Dent Disease 2
Chronic kidney disease, Hypophosphatemia, Aminoaciduria, Elevated circulating creatine kinase con... OMIM:300555
Necrobiosis Lipoidica
Abnormality of neutrophil physiology, Telangiectasia of the skin, Inflammatory abnormality of the... ORPHA:542592
Immunodeficiency 44
Decreased circulating IgA level, Lymphopenia, Decreased circulating total IgM, Abnormal circulati... OMIM:616636
Leukocyte Adhesion Deficiency, Type Iii
Hepatomegaly, Leukocytosis, Recurrent skin infections, Splenomegaly, Extramedullary hematopoiesis... OMIM:612840
Lymphoma, Hodgkin, Classic
Impaired lymphocyte transformation with phytohemagglutinin, Polyclonal elevation of IgM OMIM:236000
Combined Cellular And Humoral Immune Defects With Granulomas
Decreased circulating IgG level, B lymphocytopenia, T lymphocytopenia OMIM:233650
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Hypomagnesemia, Hypokalemia, Polyuria, Renal potassium wasting, Renal magnesium wasting OMIM:618314
Immunodeficiency 14A, Autosomal Dominant
Splenomegaly, Decreased specific pneumococcal antibody level, T lymphocytopenia, Decreased propor... OMIM:615513
Amino Aciduria With Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, And Acidosis
Muscular dystrophy, Aminoaciduria OMIM:204730
Immunodeficiency 69
Leukocytosis, Splenomegaly, Hepatosplenomegaly, Thrombocytosis, Pancytopenia, Anemia OMIM:618963
Combined Oxidative Phosphorylation Deficiency 52
Lacticaciduria, Aminoaciduria, Elevated circulating creatine kinase concentration, Hyperglycinemi... OMIM:619386
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Ce