Gene Summary

Name:
paraoxonase 2
Synonyms:
6330405I24Rik

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 neutrophil cell number Pon2tm1b(EUCOMM)Hmgu HOM Late adult 3.55×10-06

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
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
Aorta  Wholemount images heterozygote 100% (2 of 2)
Bone  Wholemount images heterozygote 100% (2 of 2)
Brain  Wholemount images heterozygote 100% (2 of 2)
Brainstem  Wholemount images heterozygote 100% (2 of 2)
Cartilage tissue  Wholemount images heterozygote 100% (2 of 2)
Cerebellum  Wholemount images heterozygote 100% (2 of 2)
Cerebral cortex  Wholemount images heterozygote 100% (2 of 2)
Esophagus  Wholemount images heterozygote 100% (2 of 2)
Eye  Wholemount images heterozygote 100% (2 of 2)
Gall bladder  Wholemount images heterozygote 100% (2 of 2)
Heart  Wholemount images heterozygote 100% (2 of 2)
Hippocampus  Wholemount images heterozygote 100% (2 of 2)
Hypothalamus  Wholemount images heterozygote 100% (2 of 2)
Kidney  Wholemount images heterozygote 100% (2 of 2)
Large intestine  Wholemount images heterozygote 100% (2 of 2)
Lower urinary tract  Wholemount images heterozygote 100% (2 of 2)
Lung  Wholemount images heterozygote 100% (2 of 2)
Lymph node  Wholemount images heterozygote 50% (1 of 2)
Olfactory lobe  Wholemount images heterozygote 100% (2 of 2)
Oral epithelium  Wholemount images heterozygote 100% (2 of 2)
Ovary  Wholemount images heterozygote 50% (1 of 2)
Oviduct  Wholemount images heterozygote 50% (1 of 2)
Parathyroid gland  Wholemount images heterozygote 100% (2 of 2)
Peripheral nervous system  Wholemount images heterozygote 100% (2 of 2)
Peyer's patch  Wholemount images heterozygote 100% (2 of 2)
Pituitary gland  Wholemount images heterozygote 100% (2 of 2)
Skin  Wholemount images heterozygote 100% (2 of 2)
Small intestine  Wholemount images heterozygote 100% (2 of 2)
Spinal cord  Wholemount images heterozygote 100% (2 of 2)
Stomach  Wholemount images heterozygote 100% (2 of 2)
Striatum  Wholemount images heterozygote 100% (2 of 2)
Testis  Wholemount images heterozygote 50% (1 of 2)
Thyroid gland  Wholemount images heterozygote 100% (2 of 2)
Trachea  Wholemount images heterozygote 100% (2 of 2)
Uterus  Wholemount images heterozygote 50% (1 of 2)
Vascular system  Wholemount images heterozygote 100% (2 of 2)
Adrenal gland N/A heterozygote 100% (2 of 2)
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Pancreas N/A heterozygote 0.0% (0 of 2)
Prostate gland N/A heterozygote 0.0% (0 of 2)
Skeletal muscle N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
White adipose tissue N/A heterozygote 0.0% (0 of 2)

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

Anatomy Images Zygosity Mutant Expr
Brain N/A heterozygote 100% (1 of 1)
Brain N/A homozygote 100% (1 of 1)
Ear N/A heterozygote Not available
Ear N/A homozygote Not available
Embryo N/A heterozygote 100% (1 of 1)
Embryo N/A homozygote 100% (1 of 1)
Eye N/A heterozygote 100% (1 of 1)
Eye N/A homozygote 100% (1 of 1)
Footplate N/A heterozygote 100% (1 of 1)
Footplate N/A homozygote 100% (1 of 1)
Forebrain N/A heterozygote 100% (1 of 1)
Forebrain N/A homozygote 100% (1 of 1)
Forelimb N/A heterozygote 100% (1 of 1)
Forelimb N/A homozygote 100% (1 of 1)
Handplate N/A heterozygote 100% (1 of 1)
Handplate N/A homozygote 100% (1 of 1)
Head N/A heterozygote 100% (1 of 1)
Head N/A homozygote 100% (1 of 1)
Heart N/A heterozygote Not available
Heart N/A homozygote Not available
Hindbrain N/A heterozygote 100% (1 of 1)
Hindbrain N/A homozygote 100% (1 of 1)
Hindlimb N/A heterozygote 100% (1 of 1)
Hindlimb N/A homozygote 100% (1 of 1)
Liver N/A heterozygote Not available
Liver N/A homozygote Not available
Lung N/A heterozygote Not available
Lung N/A homozygote Not available
Mandibular process N/A heterozygote Not available
Mandibular process N/A homozygote Not available
Maxillary process N/A heterozygote Not available
Maxillary process N/A homozygote Not available
Midbrain N/A heterozygote 100% (1 of 1)
Midbrain N/A homozygote 100% (1 of 1)
Oral cavity N/A heterozygote Not available
Oral cavity N/A homozygote Not available
Skin N/A heterozygote Not available
Skin N/A homozygote Not available
Tail somite N/A heterozygote 0.0% (0 of 1)
Tail somite N/A homozygote 100% (1 of 1)
Tail N/A heterozygote 0.0% (0 of 1)
Tail N/A homozygote 100% (1 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 585)
aorta 0.17% (1 of 585)
bone 0.0%
brain 0.68% (4 of 585)
brainstem 0.34% (2 of 585)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 585)
cerebellum 0.51% (3 of 585)
cerebral cortex 0.34% (2 of 585)
esophagus 1.71% (7 of 409)
eye 0.0%
gall bladder 0.0%
heart 0.34% (2 of 585)
hippocampus 0.51% (3 of 585)
hypothalamus 0.34% (2 of 585)
kidney 3.59% (21 of 585)
large intestine 1.71% (10 of 585)
liver 0.0%
lower urinary tract 0.17% (1 of 585)
lung 0.34% (2 of 585)
lymph node 0.17% (1 of 585)
mammary gland 0.0%
olfactory lobe 0.34% (2 of 585)
oral epithelium 0.0%
ovary 0.17% (1 of 585)
oviduct 0.0%
pancreas 0.85% (5 of 585)
parathyroid gland 0.18% (1 of 563)
peripheral nervous system 0.34% (2 of 585)
peyers patch 0.0%
pituitary gland 0.17% (1 of 585)
prostate gland 2.05% (12 of 585)
skeletal muscle 0.0%
skin 0.17% (1 of 585)
small intestine 1.54% (9 of 585)
spinal cord 0.51% (3 of 585)
spleen 0.51% (3 of 585)
stomach 2.22% (13 of 585)
striatum 0.51% (3 of 585)
testis 1.03% (6 of 585)
thymus 0.17% (1 of 585)
thyroid gland 2.91% (17 of 585)
trachea 0.51% (3 of 585)
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 508)
ear 0.2% (1 of 508)
embryo 0.2% (1 of 509)
eye 0.2% (1 of 508)
footplate 0.2% (1 of 508)
forebrain 0.2% (1 of 508)
forelimb 0.2% (1 of 508)
handplate 0.2% (1 of 508)
head 0.98% (5 of 508)
heart 0.2% (1 of 508)
hindbrain 1.18% (6 of 508)
hindlimb 0.2% (1 of 508)
liver 0.2% (1 of 503)
lung 0.2% (1 of 503)
mandibular process 0.2% (1 of 508)
maxillary process 0.2% (1 of 508)
midbrain 0.2% (1 of 508)
oral cavity 0.2% (1 of 503)
skin 0.2% (1 of 508)
tail 0.2% (1 of 508)
tail somite group 0.2% (1 of 508)

Associated Images

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

Embryo LacZ

LacZ images wholemount

8 Images

Adult LacZ

LacZ Images Wholemount

21 Images

X-ray

XRay Images Whole Body Lateral Orientation

15 Images

X-ray

XRay Images Whole Body Lateral Orientation

4 Images

X-ray

XRay Images Whole Body Dorso Ventral

15 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

4 Images

X-ray

XRay Images Whole Body Dorso Ventral

4 Images

Human diseases caused by Pon2 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 Pon2 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Amyotrophic Lateral Sclerosis
ORPHA:803

The table below shows human diseases predicted to be associated to Pon2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Carbimazole Sensitivity
Drug-induced agranulocytosis OMIM:212060
Whim Syndrome 2
Chronic neutropenia OMIM:619407
Thrombocytopenia, Cyclic
Thrombocytopenia, Neutropenia, Cyclic neutropenia OMIM:188020
Neutropenia, Severe Congenital, 7, Autosomal Recessive
Neutropenia OMIM:617014
Diamond-Blackfan Anemia 18
Steroid-responsive anemia, Neutropenia, Erythroid hypoplasia OMIM:618310
Cyclic Neutropenia
Neutropenia, Cyclic neutropenia OMIM:162800
Undritz Anomaly
Hypersegmentation of neutrophil nuclei OMIM:191500
Neutropenia, Severe Congenital, X-Linked
Neutropenia OMIM:300299
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults
Acute myeloid leukemia, Neutropenia OMIM:607847
Neutropenia, Severe Congenital, 2, Autosomal Dominant
B lymphocytopenia, Neutropenia, Monocytosis OMIM:613107
Neutropenia, Lethal Congenital, With Eosinophilia
Eosinophilia, Neutropenia OMIM:257100
X-Linked Severe Congenital Neutropenia
Monocytopenia, Neutropenia ORPHA:86788
Agammaglobulinemia 7, Autosomal Recessive
Neutropenia OMIM:615214
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Neutropenia ORPHA:70592
Hypercholesterolemia, Familial, 4
Hypercholesterolemia, Increased VLDL cholesterol concentration, Atherosclerosis, Hypertriglycerid... OMIM:603813
Immunodeficiency 50
Neutropenia, Lymphopenia OMIM:300988
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Thrombocytosis, Neutropenia, Monocytosis, Congenital agranulocytosis, Anemia, Acute monocytic leu... OMIM:202700
Sitosterolemia 2
Hypercholesterolemia, Premature coronary artery atherosclerosis, Elevated circulating sitosterol ... OMIM:618666
Hyperlipoproteinemia, Type Ii, And Deafness
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia, Type IV athe... OMIM:144300
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Recurrent bacterial infections, Recurrent viral infections, Recurrent protozoan infections, Abnor... OMIM:308220
Agammaglobulinemia 2, Autosomal Recessive
Recurrent bacterial infections, Agammaglobulinemia, Meningitis, Recurrent pneumonia, Recurrent re... OMIM:613500
Anemia, Sideroblastic, 5
Reduced hematocrit, Neutropenia, Hypochromic microcytic anemia, Anemia, Thrombocytopenia OMIM:619523
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations
Neutropenia, Lymphopenia OMIM:614868
Felty Syndrome
Neutropenia, Splenomegaly OMIM:134750
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Neutropenia OMIM:616022
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Neutropenia ORPHA:90023
Niemann-Pick Disease, Type B
Decreased HDL cholesterol concentration, Increased LDL cholesterol concentration, Bone-marrow foa... OMIM:607616
Hypoalphalipoproteinemia, Primary, 1
Premature coronary artery atherosclerosis, Decreased HDL cholesterol concentration OMIM:604091
Neutropenia-Monocytopenia-Deafness Syndrome
Abnormal macrophage morphology, Abnormality of neutrophils ORPHA:2690
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Neutropenia, Leukopenia, Anemia, Splenomegaly, Extramedullary hematopoiesis, Thrombocytopenia OMIM:615285
Immunodeficiency, Common Variable, 5
Recurrent bacterial infections, Chronic decreased circulating total IgG, Recurrent respiratory in... OMIM:613495
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
Recurrent bacterial infections, Decreased circulating IgG level, Recurrent candida infections OMIM:242870
Specific Granule Deficiency 1
Absent neutrophil lactoferrin, Absent neutrophil specific granules, Increased neutrophil mitochon... OMIM:245480
Neutropenia, Chronic Familial
Neutropenia OMIM:162700
Neutrophilia, Hereditary
Neutrophilia, Hepatosplenomegaly OMIM:162830
Hypertriglyceridemia 1
Increased VLDL cholesterol concentration, Hypertriglyceridemia, Precocious atherosclerosis OMIM:145750
Hyperlipoproteinemia, Type Iv
Increased VLDL cholesterol concentration, Hypertriglyceridemia, Precocious atherosclerosis OMIM:144600
Trimethylaminuria
Anemia, Neutropenia, Splenomegaly OMIM:602079
Myelolymphatic Insufficiency
Hyposegmentation of neutrophil nuclei, Leukopenia OMIM:310350
Immunodeficiency 61
Recurrent bacterial infections, Agammaglobulinemia, Recurrent otitis media, Recurrent respiratory... OMIM:300310
Immunodeficiency 21
Abnormal natural killer cell morphology, Neutropenia, Lymphopenia, Myeloid leukemia, Monocytopeni... OMIM:614172
Agammaglobulinemia 3, Autosomal Recessive
Recurrent bacterial infections, Agammaglobulinemia, Recurrent bronchitis, Recurrent otitis media,... OMIM:613501
Mannose-Binding Lectin Deficiency
Disseminated cryptosporidium infection, Recurrent meningococcal disease, Recurrent herpes, Recurr... OMIM:614372
Immunodeficiency With Hyper-Igm, Type 2
Recurrent infection of the gastrointestinal tract, Recurrent bacterial infections, Decreased circ... OMIM:605258
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Neutropenia, Increased mean corpuscular volume, Anemia, Acute myeloid leukemia, Pancytopenia, Thr... OMIM:619041
Chylomicron Retention Disease
Hypocholesterolemia, Hypotriglyceridemia, Steatorrhea, Hypoalbuminemia, Decreased LDL cholesterol... OMIM:246700
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Neutropenia OMIM:610798
Cholesteryl Ester Storage Disease
Hypercholesterolemia, Arteriosclerosis, Hypertriglyceridemia, Hepatic failure, Jaundice ORPHA:75234
Complement Component 7 Deficiency
Recurrent meningococcal disease, Recurrent Neisserial infections OMIM:610102
Immunodeficiency, Common Variable, 4
Recurrent bacterial infections, Decreased circulating IgG level, Recurrent pneumonia, Decreased c... OMIM:613494
Thrombocytopenia 5
Anemia, Thrombocytopenia, Neutropenia OMIM:616216
Fanconi Anemia, Complementation Group G
Leukemia, Thrombocytopenia, Neutropenia, Anemia OMIM:614082
Lecithin:Cholesterol Acyltransferase Deficiency
Foam cells, Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:245900
Cholesterol-Ester Transfer Protein Deficiency
Hyperlipidemia, Hyperlipoproteinemia, Hypercholesterolemia, Hypotriglyceridemia, Increased HDL ch... ORPHA:79506
Immunodeficiency 35
Recurrent fungal infections, Recurrent viral infections, Increased circulating IgE level, Recurre... OMIM:611521
Alpha-Thalassemia-Myelodysplastic Syndrome
Neutropenia, Acute leukemia, Splenomegaly, Microcytic anemia, Thrombocytopenia, HbH hemoglobin ORPHA:231401
Congenital Disorder Of Glycosylation, Type Iip
Increased LDL cholesterol concentration, Decreased circulating ceruloplasmin concentration, Decre... OMIM:616829
Agammaglobulinemia 6, Autosomal Recessive
Recurrent bacterial infections, Agammaglobulinemia, Recurrent bronchitis, Recurrent otitis media,... OMIM:612692
Immunodeficiency, Common Variable, 3
Recurrent bacterial infections, Reduced isohemagglutinin level, Decreased circulating IgA level, ... OMIM:613493
Immunodeficiency 34
Recurrent mycobacterial infections, Severe recurrent varicella OMIM:300645
Immunodeficiency 30
Recurrent infections, Recurrent mycobacterial infections OMIM:614891
Glycogen Storage Disease Ixa1
Elevated hepatic transaminase, Hypercholesterolemia, Hypertriglyceridemia OMIM:306000
Agammaglobulinemia 4, Autosomal Recessive
Recurrent bacterial infections, Agammaglobulinemia, Recurrent otitis media, Recurrent pneumonia, ... OMIM:613502
Immunodeficiency With Hyper-Igm, Type 3
Recurrent bacterial infections, Decreased circulating IgA level, Impaired memory B cell generatio... OMIM:606843
Refractory Anemia
Macrocytic anemia, Normocytic anemia, Neutropenia, Normochromic anemia, Erythroid hypoplasia, Thr... ORPHA:98826
Immunodeficiency With Hyper-Igm, Type 5
Recurrent bacterial infections, Decreased circulating IgA level, Decreased circulating IgG level,... OMIM:608106
Complement Component 8 Deficiency, Type Ii
Meningitis, Recurrent Neisserial infections OMIM:613789
Ras-Associated Autoimmune Leukoproliferative Disorder
Neutropenia, Monocytosis, Leukemia, Splenomegaly, Autoimmune thrombocytopenia, Lymphocytosis, Pan... OMIM:614470
Hypertriglyceridemia 2
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:619324
Glutathione Synthetase Deficiency
Hemolytic anemia, Neutropenia OMIM:266130
Morbid Obesity And Spermatogenic Failure
Decreased HDL cholesterol concentration, Increased LDL cholesterol concentration, Premature coron... OMIM:615703
Diamond-Blackfan Anemia 4
Macrocytic anemia, Neutropenia, Reticulocytopenia, Erythroid hypoplasia OMIM:612527
Lcat Deficiency
Decreased HDL cholesterol concentration, Premature coronary artery atherosclerosis, Decreased cir... ORPHA:650
Complement Factor D Deficiency
Recurrent bacterial infections OMIM:613912
Acquired Idiopathic Sideroblastic Anemia
Leukocytosis, Thrombocytosis, Neutropenia, Normocytic anemia, Megaloblastic erythroid hyperplasia... ORPHA:75564
Glycogen Storage Disease Vi
Elevated hepatic transaminase, Hypercholesterolemia, Hypertriglyceridemia, Hyperlipidemia OMIM:232700
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Macrocytic anemia, Neutropenia, Abnormal reticulocyte morphology, Abnormal platelet morphology, A... OMIM:300835
Complement Component 6 Deficiency
Recurrent meningococcal disease OMIM:612446
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hypocholesterolemia OMIM:610539
Neutropenia, Severe Congenital, 3, Autosomal Recessive
Acute lymphoblastic leukemia, Neutropenia OMIM:610738
Immunodeficiency 51
Chronic furunculosis, Recurrent bronchitis, Chronic oral candidiasis, Recurrent otitis media, Chr... OMIM:613953
Transcobalamin Deficiency
Pancytopenia, Thrombocytopenia, Neutropenia, Lymphopenia ORPHA:859
Bile Acid Synthesis Defect, Congenital, 1
Giant cell hepatitis, Hypocholesterolemia, Hyperbilirubinemia, Steatorrhea, Hepatic failure, Elev... OMIM:607765
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Immunodeficiency 12
Recurrent bacterial infections, Recurrent viral infections OMIM:615468
Granulomatous disease with defect in neutrophil chemotaxis
Recurrent staphylococcal infections, Impaired neutrophil killing of staphylococci OMIM:233670
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Accelerated atherosclerosis, Increased LDL cholesterol concentration, Hepatitis, Aortic atheroscl... ORPHA:209902
Ataxia-Pancytopenia Syndrome
Hypoplastic anemia, Neutropenia, Acute myelomonocytic leukemia, Anemia, Pancytopenia, Thrombocyto... OMIM:159550
Lysosomal Acid Lipase Deficiency
Decreased HDL cholesterol concentration, Increased LDL cholesterol concentration, Bone-marrow foa... OMIM:278000
Fanconi Anemia, Complementation Group V
Anemia, Thrombocytopenia, Neutropenia OMIM:617243
Abdominal Obesity-Metabolic Syndrome 4
Decreased HDL cholesterol concentration, Accelerated atherosclerosis, Increased LDL cholesterol c... OMIM:618620
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis
Hypocholesterolemia, Decreased LDL cholesterol concentration OMIM:616834
Diamond-Blackfan Anemia 8
Macrocytic anemia, Neutropenia, Increased mean corpuscular volume OMIM:612563
3-Methylglutaconic Aciduria, Type Vii
Neutropenia OMIM:616271
Hemophagocytic Lymphohistiocytosis, Familial, 4
Neutropenia, Anemia, Splenomegaly, Thrombocytopenia, Hemophagocytosis OMIM:603552
Dysbetalipoproteinemia
Decreased HDL cholesterol concentration, Accelerated atherosclerosis, Type IV atherosclerotic les... ORPHA:412
Apolipoprotein A-I Deficiency
Decreased HDL cholesterol concentration, Abnormal circulating lipid concentration, Premature coro... ORPHA:425
Immunodeficiency 46
Anemia, Neutropenia, Intermittent thrombocytopenia OMIM:616740
Immunodeficiency By Defective Expression Of Mhc Class Ii
Recurrent bacterial infections, Recurrent infection of the gastrointestinal tract, Lack of T cell... ORPHA:572
Bare Lymphocyte Syndrome, Type Ii
Recurrent bacterial infections, Agammaglobulinemia, Infectious encephalitis, Recurrent protozoan ... OMIM:209920
Neutrophil Actin Dysfunction
Recurrent bacterial infections OMIM:257150
Immunodeficiency 28
Recurrent mycobacterial infections OMIM:614889
Immunodeficiency, Common Variable, 2
Recurrent bacterial infections, Impaired T cell function, Decreased circulating IgA level, Recurr... OMIM:240500
Immunodeficiency 38 With Basal Ganglia Calcification
Recurrent mycobacterial infections OMIM:616126
Griscelli Syndrome, Type 2
Recurrent bacterial infections, Reduced delayed hypersensitivity OMIM:607624
Immunodeficiency 67
Transient neutropenia, Liver abscess OMIM:607676
Agammaglobulinemia 1, Autosomal Recessive
Recurrent bacterial infections, Agammaglobulinemia, Decreased circulating antibody level, Recurre... OMIM:601495
Spinocerebellar Ataxia, Autosomal Recessive 23
Neutropenia OMIM:616949
Hypercholesterolemia, Familial, 2
Increased LDL cholesterol concentration, Xanthelasma, Hypercholesterolemia, Coronary artery ather... OMIM:144010
Neutropenia, Severe Congenital, 8, Autosomal Dominant
Neutropenia OMIM:618752
Immunodeficiency 33
Increased circulating IgA level, Disseminated nontuberculous mycobacterial infection, Recurrent b... OMIM:300636
Ficolin 3 Deficiency
Recurrent abscess formation, Recurrent Staphylococcus aureus infections, Recurrent lower respirat... OMIM:613860
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, B lymphocytopenia, Neutropenia, Abscess, Splenomegaly, Intermittent throm... OMIM:150550
Immunodeficiency, Common Variable, 1
Recurrent bacterial infections, Impaired T cell function, Decreased circulating IgA level, Recurr... OMIM:607594
Combined Immunodeficiency Due To Partial Rag1 Deficiency
B lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, Splenomegaly, T lymphocy... ORPHA:231154
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive
Recurrent bacterial infections, Recurrent fungal infections, Recurrent viral infections, Recurren... OMIM:243700
Wolfram Syndrome, Mitochondrial Form
Thrombocytopenia, Megaloblastic anemia, Neutropenia, Sideroblastic anemia OMIM:598500
Adult Idiopathic Neutropenia
Monocytopenia, Neutropenia, Lymphopenia, Monocytosis ORPHA:2688
Analbuminemia
Elevated circulating transferrin concentration, Increased LDL cholesterol concentration, Recurren... OMIM:616000
Squalene Synthase Deficiency
Hypocholesterolemia, Increased circulating farnesol concentration, Polymicrogyria, Elevated circu... OMIM:618156
Thymic Aplasia
Recurrent bacterial infections, Sepsis, Recurrent infection of the gastrointestinal tract, Hypoca... ORPHA:83471
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency
Coccidioidomycosis, Severe toxoplasmosis, BCGosis, Vasculitis in the skin, Histoplasmosis, Dissem... ORPHA:319552
Sebastian syndrome
Thrombocytopenia, Neutrophil inclusion bodies, Giant platelets, Leukocyte inclusion bodies OMIM:605249
Immunodeficiency 55
Neutropenia OMIM:617827
Whim Syndrome 1
Recurrent bacterial infections, Decreased circulating IgG level, Decreased circulating antibody l... OMIM:193670
Pontocerebellar Hypoplasia, Type 15
Chronic neutropenia, Thrombocytopenia, Anemia OMIM:619302
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Recurrent bacterial infections, Sepsis, Recurrent opportunistic infections, Recurrent herpes, Dec... ORPHA:276
Immunodeficiency With Hyper-Igm, Type 4
Recurrent bacterial infections, Recurrent infection of the gastrointestinal tract, Recurrent uppe... OMIM:608184
Pontocerebellar Hypoplasia, Type 14
Chronic neutropenia, Thrombocytopenia OMIM:619301
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Anemia, Thrombocytopenia, Neutropenia, Congenital thrombocytopenia OMIM:616738
Peroxisome Biogenesis Disorder 3B
Hypocholesterolemia, Steatorrhea OMIM:266510
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency
Premature coronary artery atherosclerosis, Hypertriglyceridemia, Increased HDL cholesterol concen... ORPHA:140905
Bone Marrow Failure Syndrome 6
Neutropenia, Increased mean corpuscular volume, Anemia, Persistence of hemoglobin F, Lymphopenia OMIM:618849
Immune Deficiency Disease
Recurrent bacterial infections, Recurrent viral infections, Fulminant hepatitis, Decreased circul... OMIM:242850
Fish-Eye Disease
Decreased HDL cholesterol concentration, Atherosclerosis ORPHA:79292
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Recurrent bacterial infections, Recurrent opportunistic infections, Decreased circulating IgA lev... ORPHA:275
Extracranial Carotid Artery Aneurysm
Total anomalous pulmonary venous return, Opportunistic infection, Arterial fibromuscular dysplasi... ORPHA:494424
Slc35A1-Cdg
Thrombocytopenia, Abnormal platelet granules, Giant platelets, Neutropenia ORPHA:238459
Body Skin Hyperlaxity Due To Vitamin K-Dependent Coagulation Factor Deficiency
Atherosclerosis, Dilatation of the cerebral artery ORPHA:91135
Hyperlipidemia, Familial Combined, 3
Hyperlipidemia, Increased LDL cholesterol concentration, Increased VLDL cholesterol concentration... OMIM:144250
Hemochromatosis, Type 3
Anemia, Neutropenia, Lymphopenia OMIM:604250
Heparin Cofactor Ii Deficiency
Post-angioplasty coronary artery restenosis OMIM:612356
Cernunnos-Xlf Deficiency
Recurrent bacterial infections, Recurrent viral infections, Decreased circulating antibody level ORPHA:169079
Purine Nucleoside Phosphorylase Deficiency
Recurrent bacterial infections, Hypouricemia, Recurrent opportunistic infections, Impaired T cell... OMIM:613179
Tangier Disease
Decreased HDL cholesterol concentration, Atherosclerosis, Coronary artery atherosclerosis OMIM:205400
Chylomicron Retention Disease
Elevated hepatic transaminase, Hypocholesterolemia, Steatorrhea ORPHA:71
Idiopathic Aplastic Anemia
Neutropenia, Anemia, Reticulocytopenia, Pancytopenia, Thrombocytopenia ORPHA:88
Immunodeficiency, Common Variable, 6
Recurrent bacterial infections, Decreased specific pneumococcal antibody level, Complete or near-... OMIM:613496
Gm1-Gangliosidosis, Type Iii
Foam cells, Decreased beta-galactosidase activity OMIM:230650
Alg12-Cdg
Hyponatremia, Hypoalbuminemia, Sepsis, Recurrent ear infections, Partial absence of specific anti... ORPHA:79324
Cd8 Deficiency, Familial
Recurrent bacterial infections, Recurrent viral infections, Recurrent respiratory infections OMIM:608957
Immunodeficiency 31B
Herpes simplex encephalitis, Recurrent viral infections, Recurrent mycobacterial infections OMIM:613796
Folate Malabsorption, Hereditary
Thrombocytopenia, Neutropenia, Leukopenia, Folate-responsive megaloblastic anemia OMIM:229050
Hereditary Pulmonary Alveolar Proteinosis
Elevated carcinoembryonic antigen level, Foam cells, Abnormal circulating protein concentration ORPHA:264675
Lymphoproliferative Syndrome, X-Linked, 1
Neutropenia, Splenomegaly, Lymphocytosis, Pancytopenia, Thrombocytopenia, Aplastic anemia, Hemoph... OMIM:308240
Immunodeficiency With Hyper-Igm, Type 1
Recurrent bacterial infections, Sepsis, Decreased circulating IgA level, Impaired memory B cell g... OMIM:308230
Aortic Aneurysm, Familial Thoracic 4
Aortic dissection, Ascending tubular aorta aneurysm, Carotid artery stenosis, Cystic medial necro... OMIM:132900
Citrullinemia, Type Ii, Neonatal-Onset
Decreased HDL cholesterol concentration, Hyperbilirubinemia, Hypercholesterolemia, Hypertriglycer... OMIM:605814
Lipodystrophy, Familial Partial, Type 1
Hypertriglyceridemia, Coronary artery atherosclerosis, Prominent superficial veins OMIM:608600
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Neutropenia, Decreased proportion of CD3-positive T cells, Hepatosplenomegaly, Lymphocytosis, Aut... ORPHA:169154
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
B lymphocytopenia, Neutropenia, Leukopenia, Abnormally low T cell receptor excision circle level,... OMIM:618986
Secondary Intestinal Lymphangiectasia
Decreased prealbumin level, Decreased circulating IgA level, Reduced circulating transferrin conc... ORPHA:90363
Niemann-Pick Disease, Type C2
Abnormal circulating cholesterol concentration, Bone-marrow foam cells, Low cholesterol esterific... OMIM:607625
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Acute lymphoblastic leukemia, Neutropenia, Anemia, Splenomegaly, Acute myeloid leukemia, Hepatosp... ORPHA:158057
Odontomatosis-Aortae Esophagus Stenosis Syndrome
Atherosclerosis, Hepatic failure ORPHA:2724
Pparg-Related Familial Partial Lipodystrophy
Prominent veins on trunk, Hyperuricemia, Hypertriglyceridemia, Atherosclerosis, Coronary artery a... ORPHA:79083
Barth Syndrome
Granulocytopenia, Neutropenia OMIM:302060
Lipodystrophy Due To Peptidic Growth Factors Deficiency
Abnormal circulating lipid concentration, Hyperlipoproteinemia, Atherosclerosis ORPHA:1979
Immunodeficiency, Common Variable, 13
Recurrent bacterial infections, Decreased circulating antibody level OMIM:616873
Familial Aortic Dissection
Aortic dissection, Mucoid extracellular matrix accumulation, Descending thoracic aorta aneurysm, ... ORPHA:229
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Fluctuating splenomegaly, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Neutropenia i... OMIM:619220
Homozygous Familial Hypercholesterolemia
Coronary artery aneurysm, Cerebral artery atherosclerosis, Hyperlipidemia, Increased LDL choleste... ORPHA:391665
Alstrom Syndrome
Chronic active hepatitis, Decreased HDL cholesterol concentration, Hyperuricemia, Recurrent pneum... OMIM:203800
Aortic Aneurysm, Familial Thoracic 6
Moyamoya phenomenon, Ascending tubular aorta aneurysm, Premature coronary artery atherosclerosis,... OMIM:611788
3-Methylglutaconic Aciduria, Type Viii
Neutropenia OMIM:617248
Secondary Short Bowel Syndrome
Sepsis, Steatorrhea, Atherosclerosis, Low plasma citrulline, Abnormal blood ion concentration ORPHA:95427
Familial Partial Lipodystrophy, Dunnigan Type
Atherosclerosis, Hypertriglyceridemia, Coronary artery atherosclerosis ORPHA:2348
Diarrhea 7, Protein-Losing Enteropathy Type
Hypercholesterolemia, Hyperlipidemia, Hypoalbuminemia OMIM:615863
Potocki-Lupski Syndrome
Hypocholesterolemia OMIM:610883
Developmental And Epileptic Encephalopathy 66
Anemia, Neutropenia OMIM:618067
Congenital Disorder Of Glycosylation, Type Ia
Decreased circulating IgA level, Hypocholesterolemia, Decreased circulating IgG level, Hypoalbumi... OMIM:212065
Schimke Immuno-Osseous Dysplasia
Hyperlipidemia, Impaired T cell function, Bone marrow hypocellularity, Recurrent infections, Arte... ORPHA:1830
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Recurrent bacterial infections, Sepsis, Decreased specific pneumococcal antibody level, Pulmonary... ORPHA:183675
Microcephalic Primordial Dwarfism, Toriello Type
Neutropenia ORPHA:2643
Tangier Disease
Carotid artery stenosis, Accelerated atherosclerosis, Coronary artery stenosis, Hypocholesterolem... ORPHA:31150
Immunodeficiency 84
Recurrent bacterial infections, Persistent EBV viremia OMIM:619437
Specific Granule Deficiency 2
Anemia, Thrombocytopenia, Neutropenia, Absent neutrophil specific granules OMIM:617475
Sitosterolemia 1
Elevated circulating sitosterol concentration, Hypercholesterolemia, Coronary artery atherosclero... OMIM:210250
Familial Cerebral Saccular Aneurysm
Aortic dissection, Abnormal circle of Willis morphology, Cerebral berry aneurysm, Aortic root ane... ORPHA:231160
Retinal Venous Beading
Neutropenia OMIM:180080
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Leukocytosis, Macrocytic anemia, Abnormally low T cell receptor excision circle level, Reduction ... OMIM:608203
Ectodermal Dysplasia And Immunodeficiency 1
Recurrent bacterial infections, Increased circulating IgA level, Reduced natural killer cell acti... OMIM:300291
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Anemia, Neutropenia OMIM:617056
Imerslund-Gräsbeck Syndrome
Macrocytic anemia, Anisopoikilocytosis, Neutropenia, Oval macrocytosis, Abnormal hemoglobin conce... ORPHA:35858
Pelger-Huet Anomaly
Neutropenia, Hyposegmentation of neutrophil nuclei, Giant platelets, Thrombocytopenia, Abnormalit... OMIM:169400
Autosomal Dominant Severe Congenital Neutropenia
Acute lymphoblastic leukemia, Neutropenia, Monocytosis, Leukemia, Acute myeloid leukemia, Lymphop... ORPHA:486
Immunodeficiency 47
Recurrent bacterial infections, Decreased circulating total IgA, Decreased circulating copper con... OMIM:300972
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Anemia, Thrombocytopenia, Neutropenia ORPHA:289916
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Recurrent bacterial infections, Decreased circulating IgA level, Recurrent fungal infections, Dec... ORPHA:331206
Griscelli Syndrome Type 2
Pancytopenia, Hemophagocytosis, Neutropenia, Splenomegaly ORPHA:79477
Hypercholesterolemia, Familial, 1
Increased LDL cholesterol concentration, Xanthelasma, Coronary artery atherosclerosis OMIM:143890
Complement Factor H Deficiency
Recurrent bacterial infections OMIM:609814
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Anemia, Thrombocytopenia, Neutropenia, Splenomegaly ORPHA:79312
Microcephalic Primordial Dwarfism, Toriello Type
Neutropenia OMIM:251190
Aggressive Systemic Mastocytosis
Leukocytosis, Neutropenia, Thrombocytopenia, Leukemia, Anemia, Abnormal mast cell morphology, Hep... ORPHA:98850
Lysosomal Acid Lipase Deficiency
Hyperkalemia, Hyponatremia, Precocious atherosclerosis, Fatal liver failure in infancy, Bone-marr... ORPHA:275761
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy
Microcytic anemia, Neutropenia OMIM:251900
Complement Component 3 Deficiency, Autosomal Recessive
Recurrent bacterial infections OMIM:613779
Diamond-Blackfan Anemia 11
Anemia, Neutropenia, Anemia of inadequate production OMIM:614900
Autoimmune Pulmonary Alveolar Proteinosis
Increased circulating lactate dehydrogenase concentration, Foam cells, Abnormal circulating prote... ORPHA:747
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency
Neutropenia OMIM:600351
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant
Recurrent sinopulmonary infections, Recurrent fungal infections, Chronic mucocutaneous candidiasi... OMIM:147060
Primary Hyperoxaluria Type 1
Calcinosis, Hyperoxaluria, Recurrent urinary tract infections, Abnormality of circulating enzyme ... ORPHA:93598
Selective Igm Deficiency
Sepsis, Severe varicella zoster infection, Recurrent herpes, Recurrent infections, Nontuberculous... ORPHA:331235
Autoimmune Lymphoproliferative Syndrome
Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, Neutropenia in ... OMIM:601859
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Enteroviral hepatitis, Recurrent bacterial infections, Infectious encephalitis, Enteroviral derma... OMIM:307200
Poikiloderma With Neutropenia
Neutropenia, Splenomegaly OMIM:604173
Postinfectious Vasculitis
Persistent human papillomavirus infection, Severe varicella zoster infection, Increased circulati... ORPHA:48435
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Decreased HDL cholesterol concentration, Accelerated atherosclerosis, Precocious atherosclerosis,... ORPHA:280365
Lichtenstein Syndrome
Neutropenia OMIM:246550
Aregenerative Anemia
Neutropenia, Abnormal proportion of CD8-positive T cells, Erythroid hypoplasia, Decreased proport... ORPHA:101096
Maternal Uniparental Disomy Of Chromosome 4
Elevated circulating creatine kinase concentration, Decreased LDL cholesterol concentration, Hypo... ORPHA:96180
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Hypocholesterolemia OMIM:618810
Congenital Disorder Of Glycosylation, Type Iif
Thrombocytopenia, Macrothrombocytopenia, Neutropenia OMIM:603585
Onychotrichodysplasia And Neutropenia
Chronic neutropenia, Lymphocytosis, Neutropenia OMIM:258360
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Recurrent E. coli infections, Impaired oxidative burst, Recurrent pneumonia, Decreased activity o... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Recurrent E. coli infections, Impaired oxidative burst, Recurrent pneumonia, Decreased activity o... OMIM:233710
Paget Disease Of Bone 6
Elevated circulating alkaline phosphatase concentration, Coronary artery atherosclerosis OMIM:616833
Chédiak-Higashi Syndrome
Recurrent bacterial infections, Hyponatremia, Hypoproteinemia, Abnormal platelet function, Recurr... ORPHA:167
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypergalactosemia, Decreased circulating antibody level, Hyperammonemia, Hyperthreoninemia, Eleva... ORPHA:247598
Niemann-Pick Disease, Type A
Cherry red spot of the macula, Bone-marrow foam cells, Elevated circulating aspartate aminotransf... OMIM:257200
Lipodystrophy, Familial Partial, Type 2
Decreased HDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia, Prominent su... OMIM:151660
Omenn Syndrome
Recurrent bacterial infections, Hypoproteinemia, Recurrent viral infections, Recurrent fungal inf... OMIM:603554
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Anemia, Thrombocytopenia, Neutropenia OMIM:614857
Complement Factor B Deficiency
Recurrent bacterial infections, Meningitis, Recurrent meningococcal disease OMIM:615561
Letterer-Siwe Disease
Anemia, Thrombocytopenia, Hepatosplenomegaly, Neutropenia OMIM:246400
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Neutropenia, Coombs-positive hemolytic anemia, Anemia, Autoimmune thrombocytopenia, Thrombocytope... OMIM:304790
Granulomatous Disease, Chronic, X-Linked
Recurrent E. coli infections, Impaired oxidative burst, Recurrent pneumonia, Decreased activity o... OMIM:306400
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Recurrent E. coli infections, Impaired oxidative burst, Recurrent pneumonia, Decreased activity o... OMIM:233690
Neonatal Lupus Erythematosus
Hemolytic anemia, Neutropenia, Anemia, Splenomegaly, Pancytopenia, Thrombocytopenia, Aplastic anemia ORPHA:398124
Immunodeficiency 14B, Autosomal Recessive
Thrombocytosis, Leukocytosis, B lymphocytopenia, Monocytosis, Neutrophilia OMIM:619281
Niemann-Pick Disease, Type C1
Bone-marrow foam cells, Fatal liver failure in infancy, Low cholesterol esterification rate, CNS ... OMIM:257220
Cholestasis, Progressive Familial Intrahepatic, 8
Elevated gamma-glutamyltransferase level, Hypercholesterolemia, Elevated circulating aspartate am... OMIM:619662
Congenital Analbuminemia
Hypoproteinemia, Hyperlipidemia, Recurrent lower respiratory tract infections, Hypercholesterolem... ORPHA:86816
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Neutropenia, Leukopenia, Monocytosis, Hypoplasia of the thymus, Anemia, Erythroid hypoplasia, Spl... OMIM:612541
Macrophage Activation Syndrome
Neutropenia, Anemia, Splenomegaly, Thrombocytopenia, Hemophagocytosis, Abnormal natural killer ce... ORPHA:158061
Abetalipoproteinemia
Decreased HDL cholesterol concentration, Decreased LDL cholesterol concentration, Hypocholesterol... ORPHA:14
Flynn-Aird Syndrome
Atherosclerosis ORPHA:2047
Lysinuric Protein Intolerance
Decreased circulating antibody level, Hyperglycinemia, Hyperammonemia, Increased circulating ferr... ORPHA:470
Congenital Enterovirus Infection
Leukocytosis, Neutropenia, Leukopenia, Anemia, Abnormal macrophage morphology, Thrombocytopenia ORPHA:292
Immunodeficiency 36
Recurrent bacterial infections, Recurrent respiratory infections, Decreased circulating antibody ... OMIM:616005
Acatalasemia
Arteriosclerosis, Reduced catalase level ORPHA:926
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Cerebral artery atherosclerosis, Coronary artery atherosclerosis, Arterial stenosis ORPHA:1192
Chediak-Higashi Syndrome
Neutropenia, Leukopenia, Abnormal dense granules, Giant neutrophil granules, Anemia, Splenomegaly... OMIM:214500
Hepatic Lipase Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration OMIM:614025
Transcobalamin Ii Deficiency
Pancytopenia, Macrocytic anemia, Neutropenia, Reticulocytopenia OMIM:275350
Saul-Wilson Syndrome
Neutropenia OMIM:618150
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Recurrent bacterial infections, Severe varicella zoster infection, Decreased circulating IgA leve... OMIM:606367
Pgm3-Cdg
Abnormal CD4:CD8 ratio, Neutropenia, Abnormal proportion of CD8-positive T cells, Leukopenia, Neu... ORPHA:443811
Pseudoxanthoma Elasticum-Like Disorder With Multiple Coagulation Factor Deficiency
Atherosclerosis OMIM:610842
Evans Syndrome
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutrop... ORPHA:1959
Kaufman Oculocerebrofacial Syndrome
Hypocholesterolemia, Coarctation of aorta, Recurrent infections OMIM:244450
Cyclic Neutropenia
Perianal abscess, Lymphopenia, Cyclic neutropenia, Thrombocytopenia, Tooth abscess, Decreased eos... ORPHA:2686
Schimke Immunoosseous Dysplasia
Abnormal T cell morphology, Neutropenia, Anemia, Lymphopenia, Thrombocytopenia OMIM:242900
Primary Lipodystrophy
Type IV atherosclerotic lesion, Hyperlipidemia ORPHA:90970
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections, With Or Without Deafness
Recurrent Haemophilus influenzae infections, Recurrent bronchitis OMIM:300455
Immunodeficiency 23
Severe varicella zoster infection, Aortic root aneurysm, Increased circulating IgG level, Chronic... OMIM:615816
X-Linked Agammaglobulinemia
Anemia, Thrombocytopenia, Neutropenia, Recurrent cutaneous abscess formation ORPHA:47
Autoimmune Hypoparathyroidism
Hypocalcemic tetany, Hypocalcemic seizures, Chronic mucocutaneous candidiasis, Coronary artery at... ORPHA:36913
Combined Immunodeficiency Due To Zap70 Deficiency
Recurrent bacterial infections, Recurrent infection of the gastrointestinal tract, Recurrent oppo... ORPHA:911
Propionic Acidemia
Pancytopenia, Thrombocytopenia, Neutropenia, Anemia OMIM:606054
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Recurrent bacterial infections, Decreased circulating IgA level, Recurrent fungal infections, Rec... OMIM:102700
Acute Promyelocytic Leukemia
Leukocytosis, Neutropenia, Leukopenia, Anemia, Pancytopenia, Thrombocytopenia ORPHA:520
Cohen Syndrome
Neutropenia, Leukopenia OMIM:216550
Felty Syndrome
Neutropenia, Abnormal lymphocyte morphology, Anemia, Splenomegaly, Thrombocytopenia ORPHA:47612
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency
Anemia, Thrombocytopenia, Neutropenia OMIM:614520
Autoimmune Lymphoproliferative Syndrome, Type Iia
Increased B cell count, Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory ... OMIM:603909
Aapoaiv Amyloidosis
Elevated circulating creatinine concentration, Paraproteinemia, Coronary artery atherosclerosis, ... ORPHA:439232
Methylmalonic Aciduria, Cblb Type
Pancytopenia, Thrombocytopenia, Neutropenia, Anemia OMIM:251110
Combined Immunodeficiency With Faciooculoskeletal Anomalies
Recurrent bacterial infections, Decreased circulating total IgA, Decreased specific antibody resp... ORPHA:221139
Vici Syndrome
Recurrent bacterial infections, Recurrent fungal infections, Cutaneous anergy, Decreased circulat... OMIM:242840
Immunodeficiency 87 And Autoimmunity
Recurrent bacterial infections, Sepsis, Hypokalemia, Recurrent fungal infections, Recurrent viral... OMIM:619573
Complement Factor I Deficiency
Recurrent otitis media, Recurrent urinary tract infections, Recurrent Haemophilus influenzae infe... OMIM:610984
Classical-Like Ehlers-Danlos Syndrome Type 1
Precocious atherosclerosis ORPHA:230839
Glycogen Storage Disease Ib
Recurrent bacterial infections, Hyperlipidemia, Hyperuricemia, Xanthelasma, Elevated hepatic tran... OMIM:232220
Methylcobalamin Deficiency Type Cble
Pancytopenia, Macrocytic anemia, Neutropenia, Increased mean corpuscular volume ORPHA:2169
Panbronchiolitis, Diffuse
Foam cells OMIM:604809
Combined Immunodeficiency Due To Crac Channel Dysfunction
Recurrent bacterial infections, Sepsis, Recurrent fungal infections, Recurrent viral infections, ... ORPHA:169090
Autosomal Agammaglobulinemia
Neutropenia ORPHA:33110
Triglyceride Deposit Cardiomyovasculopathy
Renal artery atherosclerosis, Coronary artery stenosis, Hyperlipidemia, Elevated circulating crea... ORPHA:565612
Methylmalonic Aciduria, Cbla Type
Pancytopenia, Thrombocytopenia, Neutropenia, Anemia OMIM:251100
Cartilage-Hair Hypoplasia
Macrocytic anemia, Impaired lymphocyte transformation with phytohemagglutinin, Neutropenia, Conge... OMIM:250250
Cerebral Autosomal Recessive Arteriopathy-Subcortical Infarcts-Leukoencephalopathy
Arteriosclerosis ORPHA:199354
Ataxia With Vitamin E Deficiency
Increased LDL cholesterol concentration, Xanthelasma, Hypercholesterolemia, Hypertriglyceridemia OMIM:277460
Hutchinson-Gilford Progeria Syndrome
Premature coronary artery atherosclerosis, Precocious atherosclerosis OMIM:176670
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Pancytopenia, Thrombocytopenia, Megaloblastic anemia, Neutropenia OMIM:277380
Leukoencephalopathy, Arthritis, Colitis, And Hypogammaglobulinema
Neutropenia OMIM:608809
Hypercholesterolemia, Familial, 3
Hypercholesterolemia, Xanthelasma, Abnormal LDL cholesterol concentration OMIM:603776
Hemophagocytic Syndrome Associated With An Infection
Neutropenia, Anemia, Splenomegaly, Abnormal T cell subset distribution, Pancytopenia, Thrombocyto... ORPHA:158048
Familial Hemophagocytic Lymphohistiocytosis
Neutropenia, Anemia, Splenomegaly, Thrombocytopenia, Hemophagocytosis ORPHA:540
Immunodeficiency, Common Variable, 8, With Autoimmunity
Chronic neutropenia, B lymphocytopenia, Decreased proportion of class-switched memory B cells, Sp... OMIM:614700
Shwachman-Diamond Syndrome
Chronic neutropenia, Macrocytic anemia, Neutropenia, Normocytic anemia, Leukopenia, Increased mea... ORPHA:811
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Recurrent bacterial infections, Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemia OMIM:241410
Familial Partial Lipodystrophy, Köbberling Type
Coronary artery atherosclerosis ORPHA:79084
Necrotizing Enterocolitis
Leukocytosis, Neutropenia, Thrombocytopenia ORPHA:391673
Lmna-Related Cardiocutaneous Progeria Syndrome
Aortic root aneurysm, Aortic atherosclerotic lesion, Hypercholesterolemia, Abnormality of the pul... ORPHA:363618
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
B lymphocytopenia, Neutropenia, Leukopenia, Anemia, Lymphopenia, Reticulocytopenia, Thrombocytopenia ORPHA:508542
Aspergillosis
Eosinophilia, Neutropenia ORPHA:1163
Kenny-Caffey Syndrome, Type 1
Hypomagnesemia, Recurrent bacterial infections, Hypocalcemia OMIM:244460
Mucopolysaccharidosis-Plus Syndrome
Neutropenia, Leukopenia, Anemia, Splenomegaly, Thrombocytopenia OMIM:617303
Hermansky-Pudlak Syndrome 2
Neutropenia, Enlarged platelet dense granules, Absent platelet dense granules, Splenomegaly, Redu... OMIM:608233
3-Methylglutaconic Aciduria Type 7
Infection associated neutropenia, Neutropenia ORPHA:445038
Farber Disease
Cherry red spot of the macula, Intrahepatic cholestasis with episodic jaundice, Recurrent upper r... ORPHA:333
Fanconi Anemia, Complementation Group E
Neutropenia, Leukemia, Anemia, Reticulocytopenia, Pancytopenia, Thrombocytopenia OMIM:600901
Immunodeficiency 10
Recurrent bacterial infections, Recurrent infections OMIM:612783
Shwachman-Diamond Syndrome 1
Neutropenia, Anemia, Persistence of hemoglobin F, Acute myeloid leukemia, Pancytopenia, Thrombocy... OMIM:260400
Apolipoprotein C-Ii Deficiency
Hypercholesterolemia, Decreased circulating apolipoprotein C-II concentration, Hypertriglyceridem... OMIM:207750
Immunodeficiency 27B
Recurrent mycobacterial infections OMIM:615978
Gapo Syndrome
Atherosclerosis ORPHA:2067
Fanconi Anemia, Complementation Group A
Neutropenia, Leukemia, Anemia, Reticulocytopenia, Pancytopenia, Thrombocytopenia OMIM:227650
Fanconi Anemia, Complementation Group I
Neutropenia OMIM:609053
Smith-Lemli-Opitz Syndrome
Elevated 7-dehydrocholesterol, Hypocholesterolemia, Periventricular heterotopia, Recurrent otitis... OMIM:270400
Mirage Syndrome
Hyperkalemia, Hyponatremia, Sepsis, Recurrent bacterial infections, Patent ductus arteriosus, Rec... OMIM:617053
Gaisböck Syndrome
Hyperproteinemia, Hyperuricemia, Hypercholesterolemia, Hypertriglyceridemia, Increased circulatin... ORPHA:90041
Primary Ciliary Dyskinesia
Persistent left superior vena cava, Recurrent sinopulmonary infections, Double outlet right ventr... ORPHA:244
Diamond-Blackfan Anemia 7
Macrocytic anemia, Neutropenia, Increased mean corpuscular volume OMIM:612562
Congenital Disorder Of Glycosylation, Type Iic
Reduction of neutrophil motility, Neutrophilia OMIM:266265
Pseudoxanthoma Elasticum, Forme Fruste
Arteriosclerosis, Premature occlusive vascular stenosis, Medial calcification of large arteries, ... OMIM:177850
Neonatal Alloimmune Neutropenia
Neutropenia in presence of anti-neutropil antibodies ORPHA:464370
Deafness-Lymphedema-Leukemia Syndrome
Leukocytosis, Acute leukemia, Splenomegaly, Myeloproliferative disorder, Thrombocytopenia, Abnorm... ORPHA:3226
Lathosterolosis
Abnormal circulating cholesterol concentration, Elevated hepatic transaminase, Hyperbilirubinemia... OMIM:607330
Pseudoxanthoma Elasticum
Vascular dilatation, Arterial stenosis, Atherosclerosis ORPHA:758
Hermansky-Pudlak Syndrome 10
Neutropenia, Splenomegaly OMIM:617050
Kasabach-Merritt Syndrome
Neutropenia, Leukopenia, Microangiopathic hemolytic anemia, Anemia, Reticulocytosis, Thrombocytop... ORPHA:2330
Abdominal Obesity-Metabolic Syndrome 3
Hypercholesterolemia, Coronary artery stenosis OMIM:615812
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Aortic dissection, Abdominal aortic aneurysm, Descending thoracic aorta aneurysm, Mucoid extracel... ORPHA:91387
Wolcott-Rallison Syndrome
Iron deficiency anemia, Lymphocytosis, Neutropenia ORPHA:1667
Werner Syndrome
Pulmonary artery stenosis, Atherosclerosis ORPHA:902
Fanconi Anemia, Complementation Group C
Neutropenia, Leukemia, Anemia, Reticulocytopenia, Pancytopenia, Thrombocytopenia OMIM:227645
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)
Neutropenia OMIM:615471
Sepsis In Premature Infants
Leukocytosis, Neutropenia, Anemia, Splenomegaly, Thrombocytopenia ORPHA:90051
Leukocyte Adhesion Deficiency, Type Iii
Recurrent bacterial infections, Sepsis OMIM:612840
Hypocomplementemic Urticarial Vasculitis
Recurrent bacterial infections, Meningitis, Small vessel vasculitis ORPHA:36412
Long Qt Syndrome 13
Coronary artery atherosclerosis OMIM:613485
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Moyamoya phenomenon, Coronary artery atherosclerosis ORPHA:280679
Methylmalonic Acidemia With Homocystinuria Type Cblf
Megaloblastic anemia, Neutropenia ORPHA:79284
Whim Syndrome
Recurrent bacterial infections, Sepsis, Decreased circulating antibody level, Meningitis, Recurre... ORPHA:51636
Shwachman-Diamond Syndrome 2
Thrombocytopenia, Normocytic anemia, Neutropenia OMIM:617941
Spondyloenchondrodysplasia With Immune Dysregulation
Autoimmune thrombocytopenia, T lymphocytopenia, Neutropenia, Lymphopenia OMIM:607944
Systemic Mastocytosis With Associated Hematologic Neoplasm
Leukocytosis, Chronic lymphatic leukemia, Normocytic anemia, Normochromic anemia, Chronic myelomo... ORPHA:98849
Blackfan-Diamond Anemia
Thrombocytosis, Elevated red cell adenosine deaminase level, Neutropenia, Increased mean corpuscu... ORPHA:124
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Neutropenia, Neutropenia in presence of anti-neutropil antibodies, Iron deficiency anemia, Spleno... ORPHA:37042
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Recurrent bacterial infections, Hyperlipidemia, Hyperuricemia, Hypercholesterolemia, Xanthelasma,... ORPHA:79259
Infantile Systemic Hyalinosis
Recurrent bacterial infections, Steatorrhea ORPHA:2176
Wiskott-Aldrich Syndrome
Neutropenia, Acute leukemia, Hypoplasia of the thymus, Chronic leukemia, Abnormal platelet morpho... ORPHA:906
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Thrombocytopenia, Megaloblastic anemia, Neutropenia OMIM:277400
Fusariosis
Brain abscess, Abnormality of the spleen, Neutropenia, Lung abscess, Lymphopenia, Granuloma ORPHA:228119
Pseudoxanthoma Elasticum
Coronary artery atherosclerosis, Accelerated atherosclerosis OMIM:264800
Arteriosclerosis, Severe Juvenile
Arteriosclerosis, Central retinal vessel vascular tortuosity, Calcification of the aorta OMIM:208060
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Hepatosplenomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Neutropenia in pres... OMIM:615952
Idiopathic Bronchiectasis
Recurrent Haemophilus influenzae infections, Recurrent lower respiratory tract infections ORPHA:60033
Immunodeficiency 91 And Hyperinflammation
Monocytosis, Neutrophilia, Hepatosplenomegaly, Thrombocytopenia, Hemophagocytosis OMIM:619644
Cockayne Syndrome
Hyperuricemia, Vascular calcification, Elevated hepatic transaminase, Atherosclerosis, Retinal ar... ORPHA:191
Leigh Syndrome
Anemia, Neutropenia ORPHA:506
Leukocyte Adhesion Deficiency, Type I
Recurrent bacterial infections, Recurrent staphylococcal infections, Recurrent gram-negative bact... OMIM:116920
Fanconi Anemia, Complementation Group D2
Neutropenia, Leukemia, Anemia, Reticulocytopenia, Pancytopenia, Thrombocytopenia OMIM:227646
Chromomycosis
Recurrent bacterial infections, Lymphangiectasis ORPHA:182
Congenital Disorder Of Glycosylation With Defective Fucosylation 1
Neutropenia OMIM:618005
Mannosidosis, Alpha B, Lysosomal
Recurrent bacterial infections, Decreased circulating antibody level OMIM:248500
Atherosclerosis, Premature, With Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, And Degenerative Neurologic Disease
Cerebral artery atherosclerosis, Renal artery stenosis, Coronary artery atherosclerosis OMIM:209010
Chronic Visceral Acid Sphingomyelinase Deficiency
Decreased HDL cholesterol concentration, Hyperlipidemia, Cherry red spot of the macula, Increased... ORPHA:77293
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Brain abscess, Neutrophilia, Anemia, Liver abscess ORPHA:54251
Trichothiodystrophy
Anemia, Neutropenia, Increased mean corpuscular hemoglobin concentration ORPHA:33364
Nestor-Guillermo Progeria Syndrome
Atherosclerosis, Prominent superficial veins OMIM:614008
Cohen Syndrome
Neutropenia ORPHA:193
Alkaptonuria
Coronary artery calcification, Atherosclerosis ORPHA:56
Relapsing Fever
Leukocytosis, Leukopenia, Anemia, Neutrophilia, Thrombocytopenia ORPHA:91547
Werner Syndrome
Premature arteriosclerosis OMIM:277700
Leukocyte Adhesion Deficiency
Recurrent bacterial infections, Sepsis, BCGosis, Recurrent fungal infections, Chronic oral candid... ORPHA:2968
Myelodysplasia, Immunodeficiency, Facial Dysmorphism, Short Stature, And Psychomotor Delay
Anemia, Acute myeloid leukemia, Neutropenia OMIM:601347
Rothmund-Thomson Syndrome
Leukemia, Aplastic anemia, Neutropenia, Anemia ORPHA:2909
Estrogen Resistance Syndrome
Elevated tissue non-specific alkaline phosphatase, Coronary artery atherosclerosis ORPHA:785
Cerebrotendinous Xanthomatosis
Prolonged neonatal jaundice, Premature coronary artery atherosclerosis, Precocious atherosclerosi... ORPHA:909
Toxic Epidermal Necrolysis
Anemia, Thrombocytopenia, Neutropenia ORPHA:537
Aorta Coarctation
Coarctation of the descending aortic arch, Persistent left superior vena cava, Patent ductus arte... ORPHA:1457
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Thrombocytopenia, Megaloblastic anemia, Neutropenia ORPHA:79282
Psoriasis 14, Pustular
Leukocytosis, Neutrophilia OMIM:614204
Diamond-Blackfan Anemia 1
Thrombocytosis, Elevated red cell adenosine deaminase level, Neutropenia, Congenital hypoplastic ... OMIM:105650
Rothmund-Thomson Syndrome Type 1
Leukemia, Aplastic anemia, Neutropenia, Anemia ORPHA:221008
3P25.3 Microdeletion Syndrome
Coronary artery atherosclerosis, Patent ductus arteriosus ORPHA:435638
Cartilage-Hair Hypoplasia
Anemia, Neutropenia ORPHA:175
Pediatric-Onset Graves Disease
Thrombocytopenia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies ORPHA:525731
Rothmund-Thomson Syndrome Type 2
Leukemia, Aplastic anemia, Neutropenia, Anemia ORPHA:221016
Aortic Aneurysm, Familial Thoracic 10
Aortic root aneurysm, Abdominal aortic aneurysm, Coronary artery atherosclerosis, Aortic arch ane... OMIM:617168
Autoimmune Lymphoproliferative Syndrome
Increased B cell count, Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory ... ORPHA:3261
X-Linked Intellectual Disability, Nascimento Type
Neutropenia, Recurrent cutaneous abscess formation ORPHA:163956
Pearson Syndrome
Neutropenia, Anemia, Splenomegaly, Reticulocytosis, Pancytopenia, Thrombocytopenia, Hypoplastic s... ORPHA:699
Hermansky-Pudlak Syndrome
Neutropenia ORPHA:79430
Gastrocutaneous Syndrome
Coronary artery atherosclerosis ORPHA:2069
Niemann-Pick Disease Type C
Bone-marrow foam cells, Low cholesterol esterification rate, Hepatic failure, Foam cells, Jaundice ORPHA:646
Complement Component 5 Deficiency
Recurrent meningococcal disease OMIM:609536
Cryptogenic Organizing Pneumonia
Leukocytosis, Neutrophilia ORPHA:1302
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Neutropenia OMIM:271510
Sickle Cell Anemia
Recurrent bacterial infections, Jaundice OMIM:603903
Adult-Onset Still Disease
Leukocytosis, Neutrophilia, Splenomegaly ORPHA:829
Xeroderma Pigmentosum-Cockayne Syndrome Complex
Arteriosclerosis ORPHA:220295
Herpes Simplex Virus Encephalitis
Leukocytosis, Neutrophilia ORPHA:1930
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency
Pancytopenia, Hypersplenism, Hepatosplenomegaly, Neutropenia in presence of anti-neutropil antibo... ORPHA:228426
Kikuchi-Fujimoto Disease
Neutropenia, Leukopenia, Anemia, Splenomegaly, Lymphocytosis, Thrombocytopenia ORPHA:50918
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Leukocytosis, Neutrophilia, Increased proportion of CD4-positive T cells OMIM:617099
Staphylococcal Necrotizing Pneumonia
Leukocytosis, Neutrophilia, Leukopenia ORPHA:36238
Atrial Septal Defect, Coronary Sinus Type
Recurrent bacterial infections, Anomalous origin of the left common carotid artery from the main ... ORPHA:99104
Zygomycosis
Brain abscess, Splenic abscess, Neutropenia ORPHA:73263
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Chronic neutropenia, Transient neutropenia ORPHA:500095
Hutchinson-Gilford Progeria Syndrome