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Gene: Ecm1 MGI:103060

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Gene Summary

Name:
extracellular matrix protein 1
Synonyms:
p85

Order Alleles

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
preweaning lethality, incomplete penetrance Ecm1tm1b(EUCOMM)Hmgu HOM   Early adult 0.00
decreased neutrophil cell number Ecm1tm1b(EUCOMM)Hmgu HET Early adult 1.10×10-05

Download data as:  TSV  XLS

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lacZ Expression

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

Anatomy Images Zygosity Mutant Expr
Esophagus  Wholemount images heterozygote 100% (2 of 2)
Oral epithelium  Wholemount images heterozygote 100% (2 of 2)
Stomach  Wholemount images heterozygote 100% (2 of 2)
Testis  Wholemount images heterozygote 50% (1 of 2)
Vascular system  Wholemount images heterozygote 100% (2 of 2)
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Aorta N/A heterozygote 0.0% (0 of 2)
Bone N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 0.0% (0 of 2)
Brainstem N/A heterozygote 0.0% (0 of 2)
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 0.0% (0 of 2)
Cerebellum N/A heterozygote 0.0% (0 of 2)
Cerebral cortex N/A heterozygote 0.0% (0 of 2)
Eye N/A heterozygote 0.0% (0 of 2)
Gall bladder N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote 0.0% (0 of 2)
Hippocampus N/A heterozygote 0.0% (0 of 2)
Hypothalamus N/A heterozygote 0.0% (0 of 2)
Kidney N/A heterozygote 0.0% (0 of 2)
Large intestine N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote 0.0% (0 of 2)
Lung N/A heterozygote 0.0% (0 of 2)
Lymph node N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote 0.0% (0 of 2)
Ovary N/A heterozygote 0.0% (0 of 2)
Oviduct N/A heterozygote 0.0% (0 of 2)
Pancreas N/A heterozygote 0.0% (0 of 2)
Parathyroid gland N/A heterozygote 0.0% (0 of 2)
Peripheral nervous system N/A heterozygote 0.0% (0 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Pituitary gland 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)
Skin N/A heterozygote 0.0% (0 of 2)
Small intestine N/A heterozygote 0.0% (0 of 2)
Spinal cord N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Striatum N/A heterozygote 0.0% (0 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 0.0% (0 of 2)
Trachea N/A heterozygote 0.0% (0 of 2)
Uterus N/A heterozygote 0.0% (0 of 2)
White adipose tissue N/A heterozygote 0.0% (0 of 2)
No Embryo expression data was found for this gene.

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

Anatomy Background staining in controls (WT)
adrenal gland 0.0%
aorta 0.0%
bone 0.0%
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
esophagus 0.0%
eye 0.0%
gall bladder 0.0%
heart 0.0%
hippocampus 0.0%
hypothalamus 0.0%
kidney 0.0%
large intestine 0.0%
liver 0.0%
lower urinary tract 0.0%
lung 0.0%
lymph node 0.0%
mammary gland 0.0%
olfactory lobe 0.0%
oral epithelium 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
parathyroid gland 0.0%
peripheral nervous system 0.0%
peyers patch 0.0%
pituitary gland 0.0%
prostate gland 0.0%
skeletal muscle 0.0%
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
striatum 0.0%
testis 0.0%
thymus 0.0%
thyroid gland 0.0%
trachea 0.0%
uterus 0.0%
vascular system 0.0%
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

Associated Images

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

Echo

M-Mode Images

28 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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Adult LacZ

LacZ Images Wholemount

4 Images

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Download thumbnail Download
MicroCT E18.5

Embryo reconstruction

3 Images

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FCS thumbnail FCS
Immunophenotyping

Panel A FCS file(s)

8 Images

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PDF thumbnail PDF
Auditory Brain Stem Response

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

4 Images

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FCS thumbnail FCS
Immunophenotyping

Panel B FCS file(s)

8 Images

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Human diseases caused by Ecm1 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 Ecm1 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Lipoid Proteinosis
Pustule, Acne ORPHA:530
Lipoid Proteinosis Of Urbach And Wiethe
OMIM:247100

The table below shows human diseases predicted to be associated to Ecm1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Carbimazole Sensitivity
Drug-induced agranulocytosis OMIM:212060
Diamond-Blackfan Anemia 18
Erythroid hypoplasia, Steroid-responsive anemia, Neutropenia OMIM:618310
Undritz Anomaly
Hypersegmentation of neutrophil nuclei OMIM:191500
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults
Acute myeloid leukemia, Neutropenia OMIM:607847
Neutropenia, Severe Congenital, 7, Autosomal Recessive
Neutropenia OMIM:617014
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, B lymphocytopenia, Neutropenia OMIM:613107
Neutropenia, Lethal Congenital, With Eosinophilia
Eosinophilia, Neutropenia OMIM:257100
Monocyte Chemotactic Disorder
Cutaneous anergy, Chronic mucocutaneous candidiasis OMIM:252250
Cyclic Neutropenia
Cyclic neutropenia OMIM:162800
X-Linked Severe Congenital Neutropenia
Monocytopenia, Neutropenia ORPHA:86788
Pa Polymorphism Of Alpha-2-Globulin
Abnormal immunoglobulin level OMIM:260100
Retinal Telangiectasia And Hypogammaglobulinemia
Reduced delayed hypersensitivity, Decreased circulating IgG level OMIM:267900
Systemic Lupus Erythematosus 16
Lupus nephritis, Antinuclear antibody positivity, Systemic lupus erythematosus, Decreased circula... OMIM:614420
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Neutropenia ORPHA:70592
Whim Syndrome 2
Chronic neutropenia OMIM:619407
Immunodeficiency 50
Lymphopenia, Neutropenia OMIM:300988
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Neutropenia, Thr... OMIM:202700
Immunodeficiency, Common Variable, 5
Antinuclear antibody positivity, Chronic decreased circulating total IgG OMIM:613495
Anemia, Sideroblastic, 5
Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia OMIM:619523
Felty Syndrome
Splenomegaly, Neutropenia OMIM:134750
Autoimmune Disease
Autoimmune antibody positivity, Autoimmunity OMIM:109100
Complement Component 8 Deficiency, Type I
Decreased circulating complement C8 concentration, Systemic lupus erythematosus OMIM:613790
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Neutropenia ORPHA:90023
Masp2 Deficiency
Complement deficiency, Recurrent pneumonia, Ulcerative colitis, Systemic lupus erythematosus OMIM:613791
Immunoglobulin A Deficiency 2
Autoimmunity, Decreased circulating IgA level OMIM:609529
Neutropenia-Monocytopenia-Deafness Syndrome
Abnormal macrophage morphology, Abnormality of neutrophils ORPHA:2690
Immunodeficiency 25
Autoimmune hemolytic anemia, Increased circulating IgA level, Increased circulating IgE level, Re... OMIM:610163
Pemphigus Vulgaris, Familial
Autoimmune antibody positivity, Autoimmunity OMIM:169610
Neutropenia, Severe Congenital, X-Linked
Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia OMIM:300299
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections
Increased circulating interleukin 6 concentration, Recurrent skin infections, Increased circulati... OMIM:618944
Immunodeficiency, Common Variable, 4
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:613494
Ige Responsiveness, Atopic
Increased circulating IgE level, Eczema, Allergic rhinitis OMIM:147050
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Neutropenia OMIM:616022
Complement Component C1S Deficiency
Abnormality of complement system, Hepatitis, Hashimoto thyroiditis, Systemic lupus erythematosus OMIM:613783
C1Q Deficiency 1
Membranoproliferative glomerulonephritis, Autoimmunity, Decreased circulating complement factor I... OMIM:613652
Neutrophilia, Hereditary
Splenomegaly, Neutrophilia OMIM:162830
Complement Component C1R/C1S Deficiency
Autoimmunity, Discoid lupus rash, Arthritis, Complement deficiency, Nephritis OMIM:216950
Neutropenia, Chronic Familial
Neutropenia OMIM:162700
Deafness, Neural, With Atypical Atopic Dermatitis
Late onset atopic dermatitis, Increased circulating IgE level OMIM:221700
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome
Iron deficiency anemia, Thrombocytopenia, Increased mean platelet volume, Neutropenia ORPHA:494444
Specific Granule Deficiency 1
Impaired neutrophil bactericidal activity, Absent neutrophil specific granules, Hyposegmentation ... OMIM:245480
Immunodeficiency With Hyper-Igm, Type 3
Impaired Ig class switch recombination, Impaired memory B cell generation, Increased circulating ... OMIM:606843
Trimethylaminuria
Splenomegaly, Anemia, Neutropenia OMIM:602079
Myelolymphatic Insufficiency
Leukopenia, Hyposegmentation of neutrophil nuclei OMIM:310350
Immunoglobulin A Deficiency 1
Autoimmunity, Decreased circulating IgA level OMIM:137100
Immune Deficiency, Familial Variable
Decreased circulating IgG level, Decreased circulating IgA level OMIM:146830
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Neutropenia, Thr... OMIM:619041
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Neutropenia OMIM:610798
Immunodeficiency With Hyper-Igm, Type 5
Impaired Ig class switch recombination, Epididymitis, Increased circulating IgM level, Decreased ... OMIM:608106
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Inflammatory abnormality of the skin, Sinusitis, Autoimmunity, Anti-thyroid peroxidase antibody p... ORPHA:277
Candidiasis, Familial, 1
Cutaneous anergy, Chronic mucocutaneous candidiasis OMIM:114580
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Abnormality of T cell physiology OMIM:308220
Complement Component 4, Partial Deficiency Of
Systemic lupus erythematosus OMIM:120790
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4
Agammaglobulinemia, Decreased circulating antibody level OMIM:616911
Immunodeficiency With Hyper-Igm, Type 2
Impaired Ig class switch recombination, Increased circulating IgM level, Decreased circulating Ig... OMIM:605258
Gamma-A-Globulin, Defect In Assembly Of
Decreased circulating IgA level OMIM:137050
Immunodeficiency 89 And Autoimmunity
Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 23 concentrati... OMIM:619632
Immunodeficiency, Common Variable, 3
Decreased circulating total IgM, Reduced isohemagglutinin level, Conjunctivitis, Chronic decrease... OMIM:613493
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropenia, Anemia OMIM:615285
Fanconi Anemia, Complementation Group G
Thrombocytopenia, Leukemia, Anemia, Neutropenia OMIM:614082
Agammaglobulinemia 7, Autosomal Recessive
Reduced natural killer cell count, Neutropenia OMIM:615214
Insulin Autoimmune Syndrome
Arthralgia/arthritis, Autoimmunity, Autoimmune antibody positivity, Systemic lupus erythematosus,... ORPHA:411593
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia ORPHA:231401
Thrombocytopenia 5
B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia, Thrombocy... OMIM:616216
Tn Polyagglutination Syndrome
Autoimmunity OMIM:300622
Agammaglobulinemia 4, Autosomal Recessive
Recurrent pneumonia, Agammaglobulinemia, Decreased circulating total IgM, Recurrent otitis media,... OMIM:613502
Caspase 8 Deficiency
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:607271
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin
Decreased circulating IgA level OMIM:235500
Immunodeficiency 11B With Atopic Dermatitis
Pneumonia, Increased circulating IgE level, Atopic dermatitis, Bronchiectasis, Ulcerative colitis... OMIM:617638
Immunodeficiency, Common Variable, 14
Psoriasiform dermatitis, Decreased circulating total IgM, Recurrent sinusitis, Decreased specific... OMIM:617765
Autoimmune Lymphoproliferative Syndrome
Autoimmune hemolytic anemia, Antiphospholipid antibody positivity, Rheumatoid factor positive, In... OMIM:601859
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Colitis, Autoimmunity, Decreased specific pneumococcal antibody level, Minimal change glomerulone... OMIM:617006
Immunodeficiency, Common Variable, 7
Chronic (near) absent circulating IgG4, Reduced isohemagglutinin level, Chronic partially decreas... OMIM:614699
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... ORPHA:70593
Immunodeficiency 62
Autoimmune thrombocytopenia, Bronchiectasis, Decreased circulating total IgM, Reduced isohemagglu... OMIM:618459
B-Cell Expansion With Nfkb And T-Cell Anergy
Decreased circulating total IgM, Decreased specific antibody response to polysaccharide vaccine, ... OMIM:616452
Immunodeficiency 21
Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, Lymphopenia, Re... OMIM:614172
Palmoplantar Keratoderma, Epidermolytic, 1
Increased circulating IgE level OMIM:144200
Immunodeficiency 86
Impaired oxidative burst, Decreased circulating IgG level, Increased circulating IgM level OMIM:619549
Refractory Anemia
Normocytic anemia, Macrocytic anemia, Anemia of inadequate production, Erythroid hypoplasia, Norm... ORPHA:98826
Hashimoto Thyroiditis
Autoimmune antibody positivity, Hashimoto thyroiditis OMIM:140300
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Glomerulonephritis, Autoimmune hemolytic anemia, Increased circulating antibody level, Pneumonia OMIM:247800
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Eczema, Autoimmunity, Abnormal immunoglobulin level, Increased circulating IgE level, Chronic muc... ORPHA:98813
Immunodeficiency 35
Increased circulating IgE level OMIM:611521
Chilblain Lupus
Inflammatory abnormality of the skin, Antiphospholipid antibody positivity, Skin rash, Rheumatoid... ORPHA:90280
Ras-Associated Autoimmune Leukoproliferative Disorder
Hemolytic anemia, Pancytopenia, Autoimmune thrombocytopenia, Splenomegaly, Monocytosis, Lymphocyt... OMIM:614470
Immunodeficiency, Common Variable, 2
Impaired T cell function, Autoimmunity, Recurrent pneumonia, Bronchiectasis, Conjunctivitis, Recu... OMIM:240500
Glutathione Synthetase Deficiency
Hemolytic anemia, Neutropenia OMIM:266130
Diamond-Blackfan Anemia 4
Erythroid hypoplasia, Macrocytic anemia, Reticulocytopenia, Neutropenia OMIM:612527
Severe Combined Immunodeficiency, X-Linked
Skin rash, Pneumonia, Reduced natural killer cell activity, Recurrent pneumonia, Agammaglobulinem... OMIM:300400
Agammaglobulinemia 10, Autosomal Dominant
Agammaglobulinemia, Decreased circulating total IgM, Recurrent sinusitis, Decreased circulating I... OMIM:619707
Immunodeficiency 53
Impaired lymphocyte transformation with phytohemagglutinin, Neutrophilia OMIM:617585
Agammaglobulinemia 3, Autosomal Recessive
Neutropenia, Absent circulating B cells, Abnormal T cell morphology OMIM:613501
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate production, Splenom... ORPHA:75564
Immunodeficiency, Common Variable, 11
Inflammation of the large intestine, Decreased circulating IgG level, Crohn's disease, Increased ... OMIM:615767
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Herpes simplex encephalitis, Increased circulating IgE level, Bronchiectasis, Increased circulati... OMIM:618982
Immunodeficiency 61
Decreased circulating IgG4 level, Agammaglobulinemia, Decreased circulating total IgM, Arthritis,... OMIM:300310
Transcobalamin Deficiency
Pancytopenia, Lymphopenia, Thrombocytopenia, Neutropenia ORPHA:859
Neutropenia, Severe Congenital, 3, Autosomal Recessive
Acute lymphoblastic leukemia, Neutropenia OMIM:610738
Agammaglobulinemia 2, Autosomal Recessive
Recurrent pneumonia, Agammaglobulinemia, Decreased circulating total IgM, Recurrent otitis media,... OMIM:613500
Agammaglobulinemia 6, Autosomal Recessive
Recurrent pneumonia, Agammaglobulinemia, Decreased circulating total IgM, Conjunctivitis, Recurre... OMIM:612692
Panniculitis-Induced Localized Lipodystrophy
Antinuclear antibody positivity, Inflammatory abnormality of the skin, Abnormal immunoglobulin level ORPHA:90159
Ataxia-Pancytopenia Syndrome
Pancytopenia, Acute myelomonocytic leukemia, Anemia, Neutropenia, Hypoplastic anemia, Thrombocyto... OMIM:159550
Diamond-Blackfan Anemia 8
Macrocytic anemia, Increased mean corpuscular volume, Neutropenia OMIM:612563
Immunodeficiency, Common Variable, 1
Impaired T cell function, Pneumonia, Recurrent pneumonia, Bronchiectasis, Neutropenia in presence... OMIM:607594
Immunodeficiency 46
Neutropenia, Anemia, Intermittent thrombocytopenia OMIM:616740
Igg4-Related Aortitis
Increased inflammatory response, Autoimmunity, Increased circulating IgG4 level, Antinuclear anti... ORPHA:449400
Immunodeficiency 44
Decreased circulating total IgM, Decreased circulating IgA level, Abnormal circulating IgG level OMIM:616636
Pontocerebellar Hypoplasia, Type 15
Thrombocytopenia, Chronic neutropenia, Anemia OMIM:619302
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Eczema, Increased circulating IgE level, Increased circulating IgM level, Reduced antigen-specifi... OMIM:617241
Hemophagocytic Lymphohistiocytosis, Familial, 4
Splenomegaly, Anemia, Hemophagocytosis, Neutropenia, Thrombocytopenia OMIM:603552
Pontocerebellar Hypoplasia, Type 14
Chronic neutropenia, Thrombocytopenia OMIM:619301
Adult Idiopathic Neutropenia
Abnormal neutrophil count, Monocytosis, Neutropenia, Monocytopenia, Lymphopenia ORPHA:2688
Folate Malabsorption, Hereditary
Leukopenia, Folate-responsive megaloblastic anemia, Thrombocytopenia, Neutropenia OMIM:229050
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Autoimmune hemolytic anemia, Autoimmunity, Autoimmune thrombocytopenia, Hepatitis, Systemic lupus... ORPHA:444463
Immunodeficiency 64 With Lymphoproliferation
Autoimmune hemolytic anemia, Increased circulating IgA level, Autoimmune thrombocytopenia, Antinu... OMIM:618534
Neutropenia, Severe Congenital, 8, Autosomal Dominant
Neutropenia OMIM:618752
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Macrocytic anemia, Anisocytosis, Elliptocytosis, Poikilocytosis, Neutropenia, Abnormal reticulocy... OMIM:300835
Spinocerebellar Ataxia, Autosomal Recessive 23
Neutropenia OMIM:616949
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Neutropenia, B lymphocytopenia, Intermittent throm... OMIM:150550
Fanconi Anemia, Complementation Group V
Anemia, Thrombocytopenia, Neutropenia OMIM:617243
Immunodeficiency 67
Liver abscess, Transient neutropenia OMIM:607676
Persistent Polyclonal B-Cell Lymphocytosis
Decreased circulating total IgM OMIM:606445
Immunodeficiency 60 And Autoimmunity
Perinuclear antineutrophil antibody positivity, Bronchiectasis, Ulcerative colitis, Decreased cir... OMIM:618394
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... ORPHA:231154
Immunodeficiency 70
Decreased circulating total IgG, Furuncle, Decreased circulating antibody level, Decreased circul... OMIM:618969
Alopecia Areata 1
Autoimmunity OMIM:104000
Kimura Disease
Increased circulating IgE level ORPHA:482
Immunodeficiency 11A
Agammaglobulinemia, Reduced antigen-specific T cell proliferation, Decreased circulating antibody... OMIM:615206
Subcorneal Pustular Dermatosis
Autoimmunity, Pustule, Systemic lupus erythematosus, Increased circulating antibody level, Rheuma... ORPHA:48377
Wolfram Syndrome, Mitochondrial Form
Sideroblastic anemia, Neutropenia, Thrombocytopenia, Megaloblastic anemia OMIM:598500
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Thrombocytopenia, Congenital thrombocytopenia, Anemia, Neutropenia OMIM:616738
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Atrophic gastritis, Psoriasiform dermatitis, Autoimmune hemolytic anemia, Eczema, Autoimmune thro... OMIM:616100
Whim Syndrome 1
Neutropenia OMIM:193670
Bone Marrow Failure Syndrome 6
Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia, Lymphopenia, Anemia OMIM:618849
Reticular Dysgenesis
Impaired T cell function, Lack of T cell function OMIM:267500
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Skin rash, Autoimmunity, Recurrent aphthous stomatitis, Otitis media, Chronic oral candidiasis, D... ORPHA:275
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Recurrent skin infections, Increased circulating IgE level, Recurrent pneumonia, Bronchiectasis, ... OMIM:619752
Immunodeficiency 14B, Autosomal Recessive
Reduced natural killer cell activity, Recurrent pneumonia, Decreased circulating total IgM, Infla... OMIM:619281
Idiopathic Non-Lupus Full-House Nephropathy
Skin rash, Glomerulonephritis, Autoimmunity, Synovitis, Arthritis, Decreased circulating compleme... ORPHA:567544
Autoimmune Lymphoproliferative Syndrome, Type Iia
Autoimmune hemolytic anemia, Antiphospholipid antibody positivity, Rheumatoid factor positive, In... OMIM:603909
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant
Increased circulating IgE level, Eczema, Thyroiditis OMIM:618985
Lupus Erythematosus Tumidus
Deep dermal perivascular inflammatory infiltrate, Antinuclear antibody positivity, Autoimmune ant... ORPHA:90283
Wiskott-Aldrich Syndrome 2
Defective T cell proliferation, Eczema, Reduced natural killer cell activity OMIM:614493
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Osteomyelitis, Recurrent skin infections, Eczema, Increased circulating IgE level, Recurrent pneu... OMIM:618282
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Decreased circulating total IgM, Decreased circulating IgG level OMIM:618987
Immunodeficiency, Common Variable, 10
Psoriasiform dermatitis, Anti-thyroid peroxidase antibody positivity, Recurrent pneumonia, Decrea... OMIM:615577
Complement Component 4A Deficiency
Systemic lupus erythematosus, Glomerulonephritis, Reduced hemolytic complement activity, Decrease... OMIM:614380
Eosinophilopenia
Autoimmunity, Allergic rhinitis OMIM:131430
Slc35A1-Cdg
Giant platelets, Abnormal platelet granules, Thrombocytopenia, Neutropenia ORPHA:238459
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections
Eczema, Keratitis, Increased circulating IgE level, Bronchiectasis, Recurrent otitis media OMIM:618523
Immunodeficiency 102
Increased circulating interleukin 6 concentration, Recurrent skin infections, Partial absence of ... OMIM:301082
Hemochromatosis, Type 3
Lymphopenia, Anemia, Neutropenia OMIM:604250
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Eczema, Eosinophilic infiltration of the esophagus, Increased circulating IgE level, Recurrent pn... OMIM:243700
Complement Component 3 Deficiency, Autosomal Recessive
Membranoproliferative glomerulonephritis, Decreased circulating complement C3 concentration, Recu... OMIM:613779
Autoimmune Lymphoproliferative Syndrome, Type Iii
Autoimmune hemolytic anemia, Autoimmunity, Anticardiolipin IgG antibody positivity, Reduced natur... OMIM:615559
Inflammatory Skin And Bowel Disease, Neonatal, 2
Pustule, Increased circulating IgE level, Recurrent pneumonia OMIM:616069
Systemic Lupus Erythematosus 17
Autoimmune thrombocytopenia, Antinuclear antibody positivity, Systemic lupus erythematosus, Decre... OMIM:301080
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Atrophic gastritis, Psoriasiform dermatitis, Autoimmune hemolytic anemia, Eczema, Pneumonia, Auto... ORPHA:436159
Combined Immunodeficiency Due To Dock8 Deficiency
Recurrent bacterial skin infections, Pneumonia, Increased circulating IgE level, Atopic dermatiti... ORPHA:217390
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Cutaneous anergy OMIM:183350
Immunodeficiency 33
Decreased circulating total IgM, Increased circulating IgA level OMIM:300636
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections
Skin rash, Increased circulating IgE level, Recurrent pneumonia, Chronic mucocutaneous candidiasi... OMIM:147060
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Autoimmune thrombocytopenia, Decreased specific anti-polysaccharide antibody level, Bronchiectasi... OMIM:300853
Activated Pi3K-Delta Syndrome
Pneumonia, Autoimmunity, Bronchiectasis, Decreased circulating antibody level, Increased circulat... ORPHA:397596
Mucous Membrane Pemphigoid
Autoimmunity ORPHA:46486
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Eosinophilia, Autoimmune thrombocytopenia, Decreased proportion of CD8-positive T cells, Hepatosp... ORPHA:169154
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Fluctuating splenomegaly, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil ... OMIM:619220
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Pancytopenia, Impaired neutrophil chemotaxis, Neutropenia, Hepatosplenomegaly, Leukopenia, T lymp... OMIM:618986
Immunodeficiency 105
Skin rash, Decreased circulating antibody level, Decreased circulating total IgM, Decreased circu... OMIM:619924
Immunodeficiency 103, Susceptibility To Fungal Infections
Increased circulating IgE level, Chronic oral candidiasis OMIM:212050
Agammaglobulinemia 8B, Autosomal Recessive
Recurrent pneumonia, Agammaglobulinemia, Decreased circulating total IgM, Decreased circulating I... OMIM:619824
Subacute Cutaneous Lupus Erythematosus
Antiphospholipid antibody positivity, Rheumatoid factor positive, Anti-histone antibody positivit... ORPHA:163525
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level OMIM:300861
Idiopathic Aplastic Anemia
Pancytopenia, Reticulocytopenia, Anemia, Neutropenia, Thrombocytopenia ORPHA:88
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Autoimmune hemolytic anemia, Autoimmunity, Lymphocytic interstitial pneumonia, Increased circulat... OMIM:618495
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Acute myeloid leukemia, Pancytopenia, Thrombocytopenia, Splenomegaly, Hepatosplenomegaly, Acute l... ORPHA:158057
Immunodeficiency 96
Eczema, Decreased circulating total IgM, Defective T cell proliferation, Recurrent otitis media, ... OMIM:619774
Autoinflammatory Disease, Systemic, X-Linked
Anterior uveitis, Complete or near-complete absence of specific antibody response to unconjugated... OMIM:301081
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature
Decreased circulating total IgM, Bronchiectasis OMIM:615139
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Decreased proportion of class-switched memory B cells, B lymphocytopenia, Absent circulating B ce... OMIM:619705
Inclusion Body Myositis
Autoimmunity ORPHA:611
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Increased circulating IgE level ORPHA:1858
Immunodeficiency With Hyper-Igm, Type 1
Dysgammaglobulinemia, Impaired Ig class switch recombination, Increased circulating IgA level, Im... OMIM:308230
Immunodeficiency 7
Splenomegaly, Autoimmune hemolytic anemia, Hypereosinophilia, Neutropenia OMIM:615387
Cernunnos-Xlf Deficiency
Autoimmunity, Decreased circulating antibody level ORPHA:169079
Lymphoproliferative Syndrome, X-Linked, 1
Pancytopenia, Aplastic anemia, Splenomegaly, Lymphocytosis, Hemophagocytosis, Neutropenia, Thromb... OMIM:308240
Microcephalic Primordial Dwarfism, Toriello Type
Neutropenia ORPHA:2643
Autosomal Dominant Severe Congenital Neutropenia
Acute myeloid leukemia, Aplastic anemia, Eosinophilia, Acute lymphoblastic leukemia, Monocytosis,... ORPHA:486
Dystrophic Epidermolysis Bullosa Pruriginosa
Increased circulating IgE level ORPHA:89843
Immunodeficiency By Defective Expression Of Mhc Class Ii
Autoimmune hemolytic anemia, Sinusitis, Skin rash, Autoimmunity, Autoimmune thrombocytopenia, Acu... ORPHA:572
Immunodeficiency, Common Variable, 12, With Autoimmunity
Atrophic gastritis, Autoimmune hemolytic anemia, Recurrent skin infections, Recurrent pneumonia, ... OMIM:616576
Specific Granule Deficiency 2
Absent neutrophil specific granules, Thrombocytopenia, Anemia, Neutropenia OMIM:617475
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos... OMIM:608203
Inflammatory Skin And Bowel Disease, Neonatal, 1
Pustule, Increased circulating IgE level, Blepharitis, Erythroderma OMIM:614328
Immunodeficiency 98 With Autoinflammation, X-Linked
Autoimmune hemolytic anemia, Splenomegaly, B lymphocytopenia, Hemophagocytosis, Neutropenia, Agra... OMIM:301078
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Thrombocytopenia, Anemia, Neutropenia ORPHA:289916
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Glomerulonephritis, Eczema, Autoimmune thrombocytopenia, Increased circulating IgE level, Hepatit... OMIM:304790
Pelger-Huet Anomaly
Abnormality of neutrophils, Hyposegmentation of neutrophil nuclei, Giant platelets, Neutropenia, ... OMIM:169400
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level OMIM:611926
Autoimmune Lymphoproliferative Syndrome
Rheumatoid factor positive, Uveitis, Increased circulating IgG level, Colitis, Decreased circulat... ORPHA:3261
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Anemia, Neutropenia OMIM:617056
Imerslund-Gräsbeck Syndrome
Reticulocytosis, Macrocytic anemia, Pancytopenia, Megaloblastic anemia, Anisopoikilocytosis, Abno... ORPHA:35858
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Splenomegaly, Thrombocytopenia, Anemia, Neutropenia ORPHA:79312
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Autoimmune hemolytic anemia, Skin rash, Autoimmunity, Lymphadenitis, Decreased circulating antibo... ORPHA:331206
Griscelli Syndrome Type 2
Splenomegaly, Pancytopenia, Hemophagocytosis, Neutropenia ORPHA:79477
Immunodeficiency 22
Pericarditis, Autoimmunity, Decreased circulating total IgM, Panniculitis, Decreased circulating ... OMIM:615758
Immunodeficiency 81
Recurrent cutaneous abscess formation, Autoimmune hemolytic anemia, Skin rash, Reduced natural ki... OMIM:619374
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Chronic oral candidiasis, Pneumonia, Recurrent pneumonia, Hepatitis, Erythroderma, Increased circ... ORPHA:169160
C3 Glomerulopathy
Membranoproliferative glomerulonephritis, Autoimmunity, Paraproteinemia, Decreased circulating co... ORPHA:329918
Diabetes Mellitus, Ketosis-Prone
Autoimmunity OMIM:612227
Aggressive Systemic Mastocytosis
Pancytopenia, Hypersplenism, Thrombocytopenia, Leukocytosis, Hepatosplenomegaly, Increased propor... ORPHA:98850
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Pneumonia, Decreased circulating antibody level, Decreased circulating total IgM, Decreased circu... OMIM:614069
Peeling Skin Syndrome 1
Increased circulating IgE level, Erythroderma OMIM:270300
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Recurrent skin infections, Decreased circulating IgA level, Decreased circulating antibody level OMIM:617744
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Myositis, Anti-thyroid peroxidase antibody positivity, Tubulointerstitial nephritis, Colitis, Pso... ORPHA:37042
Selective Igm Deficiency
Fasciitis, Lymphadenitis, Paraproteinemia, Recurrent cutaneous fungal infections, Otitis media, R... ORPHA:331235
Pgm3-Cdg
Membranoproliferative glomerulonephritis, Osteomyelitis, Eczema, Allergic rhinitis, Increased cir... ORPHA:443811
Systemic Lupus Erythematosus
Pericarditis, Antiphospholipid antibody positivity, Lupus nephritis, Antinuclear antibody positiv... OMIM:152700
Systemic Lupus Erythematosus, Susceptibility To, 6
Pericarditis, Antinuclear antibody positivity, Systemic lupus erythematosus, Arthritis, Malar rash OMIM:609939
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Chronic oral candidiasis, Autoimmune hemolytic anemia, Psoriasiform dermatitis, Decreased lymphoc... OMIM:606367
Congenital Disorder Of Glycosylation, Type Iif
Macrothrombocytopenia, Thrombocytopenia, Neutropenia OMIM:603585
Febrile Infection-Related Epilepsy Syndrome
Sinusitis, Autoimmunity ORPHA:163703
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Absent specific antibody response, Inflammatory abnormality of the skin, Sinusitis, Skin rash, Pn... OMIM:102700
Netherton Syndrome
Recurrent skin infections, Allergic rhinitis, Eczema, Increased circulating IgE level, Chronic rh... OMIM:256500
Immunodeficiency 85 And Autoimmunity
Eczema, Oligoarthritis, Decreased circulating total IgM, Decreased circulating IgE, Erythroderma,... OMIM:619510
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Glomerulonephritis, Autoimmune thrombocytopenia, Antinuclear antibody positivity, Thyroiditis, Sy... OMIM:619375
Pemphigus Erythematosus
Autoimmunity, Antinuclear antibody positivity, Anti-acetylcholine receptor antibody positivity, S... ORPHA:79480
Aregenerative Anemia
Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Neutropenia, Decreased proportion of CD4-p... ORPHA:101096
Autoimmune Hepatitis
Viral hepatitis, Liver kidney microsome type 1 antibody positivity, Glomerulonephritis, Antinucle... ORPHA:2137
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Enterocolitis, Ulcerative colitis, Decreased circulating total IgM, Interstitial pneumonitis, Dec... OMIM:614878
Brachydactylous Dwarfism, Mseleni Type
Increased inflammatory response, Autoimmunity, Knee osteoarthritis, Hip osteoarthritis, Osteoarth... ORPHA:2619
Developmental And Epileptic Encephalopathy 66
Anemia, Neutropenia OMIM:618067
3-Methylglutaconic Aciduria, Type Viia
Anisopoikilocytosis, Anemia, Neutropenia OMIM:619835
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Autoimmune hemolytic anemia, Autoimmunity, Eczema, Autoimmune thrombocytopenia, Neutropenia in pr... OMIM:615952
Onychotrichodysplasia And Neutropenia
Lymphocytosis, Chronic neutropenia, Neutropenia OMIM:258360
Idiopathic Chronic Eosinophilic Pneumonia
Increased circulating IgE level, Autoimmunity, Atopic dermatitis ORPHA:2902
Immunodeficiency 97 With Autoinflammation
Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cells, Eosinophilia, ... OMIM:619802
Letterer-Siwe Disease
Thrombocytopenia, Neutropenia, Anemia, Hepatosplenomegaly OMIM:246400
Immunodeficiency 92
Osteomyelitis, Cholangitis, Pneumonia, Sclerosing cholangitis, Abnormal B cell proliferation, Eso... OMIM:619652
Sneddon Syndrome
Decreased circulating total IgM, Antiphospholipid antibody positivity OMIM:182410
Linear Iga Dermatosis
Inflammation of the large intestine, Autoimmunity ORPHA:46488
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Autoimmunity, Eczema, Recurrent pneumonia, Decreased circulating antibody level, Septic arthritis OMIM:617780
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Chronic gastritis, Cholangitis, Cholecystitis, Decreased circulating IgG level, Psoriasiform derm... ORPHA:183675
Immunodeficiency, Common Variable, 8, With Autoimmunity
Atrophic gastritis, Autoimmune hemolytic anemia, Pneumonia, Autoimmune thrombocytopenia, Erythema... OMIM:614700
Neonatal Lupus Erythematosus
Hemolytic anemia, Pancytopenia, Aplastic anemia, Splenomegaly, Anemia, Neutropenia, Thrombocytopenia ORPHA:398124
Neonatal Alloimmune Neutropenia
Neutropenia in presence of anti-neutropil antibodies ORPHA:464370
Immunodeficiency 23
Membranoproliferative glomerulonephritis, Rheumatoid factor positive, Eczema, Allergic rhinitis, ... OMIM:615816
Oligoarticular Juvenile Idiopathic Arthritis
Autoimmunity, Antinuclear antibody positivity, Knee osteoarthritis, Oligoarthritis, Uveitis, Incr... ORPHA:85410
Epilepsy-Telangiectasia Syndrome
Decreased circulating IgA level, Decreased circulating antibody level ORPHA:1951
Unclassified Myelodysplastic Syndrome
Autoimmunity, Bone marrow hypocellularity ORPHA:98827
Immunodeficiency 36 With Lymphoproliferation
Autoimmunity, Bronchiectasis, Increased circulating IgM level, Decreased circulating IgG level, D... OMIM:616005
Iga Pemphigus
Neutrophilic infiltration of the skin, Monoclonal elevation of circulating IgA, Increased circula... ORPHA:555905
Lymphoproliferative Syndrome 1
Autoimmune hemolytic anemia, Autoimmunity, Autoimmune thrombocytopenia, Decreased circulating ant... OMIM:613011
Thymoma
Myositis, Glomerulonephritis, Abnormal lymphocyte proliferation, Abnormal lymphocyte physiology, ... ORPHA:99867
Propionic Acidemia
Thrombocytopenia, Pancytopenia, Anemia, Neutropenia OMIM:606054
Macrophage Activation Syndrome
Splenomegaly, Anemia, Hemophagocytosis, Neutropenia, Abnormal natural killer cell count, Thromboc... ORPHA:158061
Immunodeficiency 110 With Lymphoproliferation
Autoimmune hemolytic anemia, Lymphopenia, Neutropenia OMIM:614868
Sjogren Syndrome
Tubulointerstitial nephritis, Keratoconjunctivitis sicca, Autoimmunity, Rheumatoid arthritis OMIM:270150
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Normochromic anemia, Thrombocytopenia, Neutropenia OMIM:614857
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Liver kidney microsome type 1 antibody positivity, Antinuclear antibody positivity, Anti-liver cy... ORPHA:562639
Immunodeficiency 32B
Neutrophilia, Eosinophilia, Splenomegaly, Anemia, Impaired oxidative burst, Monocytopenia, Thromb... OMIM:226990
Hypotrichosis Simplex Of The Scalp
Atopic dermatitis, Increased circulating IgE level, Allergic rhinitis ORPHA:90368
Congenital Enterovirus Infection
Abnormal macrophage morphology, Leukocytosis, Anemia, Leukopenia, Neutropenia, Thrombocytopenia ORPHA:292
Acquired Ichthyosis
Recurrent skin infections, Autoimmunity ORPHA:454
X-Linked Agammaglobulinemia
Recurrent cutaneous abscess formation, Sinusitis, Osteomyelitis, Skin rash, Autoimmunity, Recurre... ORPHA:47
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Decreased circulating total IgM, Decreased circulating IgG level, Recurrent skin infections OMIM:620210
Netherton Syndrome
Skin rash, Eczema, Increased circulating IgE level, Decreased circulating antibody level, Erythro... ORPHA:634
Rasmussen Subacute Encephalitis
Antinuclear antibody positivity, Decreased circulating total IgA, Autoimmunity, Anti-dsDNA antibo... ORPHA:1929
Evans Syndrome
Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, Autoimmune thr... ORPHA:1959
Chediak-Higashi Syndrome
Impaired neutrophil bactericidal activity, Thrombocytopenia, Splenomegaly, Neutropenia, Leukopeni... OMIM:214500
Cyclic Neutropenia
Cyclic neutropenia, Perianal abscess, Decreased eosinophil count, Lymphopenia, Tooth abscess, Thr... ORPHA:2686
Barth Syndrome
Cyclic neutropenia, Granulocytopenia, Hypochromic microcytic anemia, Neutropenia OMIM:302060
Transcobalamin Ii Deficiency
Macrocytic anemia, Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Neutropenia OMIM:275350
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Leukopenia, Thrombocytopenia, Neutropenia OMIM:251000
Acquired Partial Lipodystrophy
Decreased circulating complement C3 concentration, Autoimmunity ORPHA:79087
Acute Promyelocytic Leukemia
Pancytopenia, Leukocytosis, Anemia, Leukopenia, Neutropenia, Thrombocytopenia ORPHA:520
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Recurrent bacterial skin infections, Skin rash, Pneumonia, Abnormal immunoglobulin level, Recurre... ORPHA:276
Isolated Agammaglobulinemia
Recurrent cutaneous abscess formation, Sinusitis, Skin rash, Pneumonia, Autoimmunity, Arthritis, ... ORPHA:229717
Secondary Non-Traumatic Avascular Necrosis
Autoimmunity, Rheumatoid arthritis, Systemic lupus erythematosus ORPHA:399180
Igg4-Related Submandibular Gland Disease
Cholangitis, Increased circulating IgG4 level, Autoimmunity, Increased circulating IgE level, Inc... ORPHA:449432
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency
Thrombocytopenia, Anemia, Neutropenia OMIM:614520
Developmental Delay, Hypotonia, And Impaired Language
Neutropenia OMIM:620012
Diamond-Blackfan Anemia 11
Anemia of inadequate production, Neutropenia OMIM:614900
Methylcobalamin Deficiency Type Cble
Macrocytic anemia, Increased mean corpuscular volume, Pancytopenia, Neutropenia ORPHA:2169
Mitochondrial Complex I Deficiency, Nuclear Type 33
Neutropenia OMIM:618253
Agammaglobulinemia, X-Linked
Enteroviral hepatitis, Prostatitis, Epididymitis, Recurrent pneumonia, Bronchiectasis, Agammaglob... OMIM:300755
Aspergillosis
Sinusitis, Osteomyelitis, Pneumonia, Keratitis, Increased circulating IgE level, Bronchiectasis, ... ORPHA:1163
Acute Generalized Exanthematous Pustulosis
Leukocytosis, Neutrophilia, Eosinophilia, Neutropenia ORPHA:293173
Felty Syndrome
Splenomegaly, Anemia, Neutropenia, Abnormal lymphocyte morphology, Thrombocytopenia ORPHA:47612
Dyskeratosis Congenita, Autosomal Dominant 2
Pancytopenia, Aplastic anemia, Leukopenia, Neutropenia, Thrombocytopenia OMIM:613989
Cohen Syndrome
Leukopenia, Neutropenia OMIM:216550
Urban-Rogers-Meyer Syndrome
Increased circulating IgE level ORPHA:3409
Thrombocytopenia 1
Increased circulating IgE level, Eczema, Increased circulating IgA level OMIM:313900
Diffuse Alveolar Hemorrhage
Antiphospholipid antibody positivity, Rheumatoid factor positive, Autoimmunity, Antinuclear antib... ORPHA:90060
Methylmalonic Aciduria, Cblb Type
Thrombocytopenia, Pancytopenia, Anemia, Neutropenia OMIM:251110
Mixed-Type Autoimmune Hemolytic Anemia
Autoimmune hemolytic anemia, Skin rash, Autoimmunity, Systemic lupus erythematosus ORPHA:90036
Autosomal Agammaglobulinemia
Neutropenia ORPHA:33110
Trichothiodystrophy 3, Photosensitive
Lymphopenia, Neutropenia OMIM:616395
Bullous Pemphigoid
Psoriasiform dermatitis, Autoimmunity, Eczema ORPHA:703
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Skin rash, Partial IgA deficiency, Pustule, Acute otitis media, Recurrent pneumonia, Lack of T ce... ORPHA:35078
Purine Nucleoside Phosphorylase Deficiency
Autoimmune hemolytic anemia, Sinusitis, Impaired T cell function, Pneumonia, Autoimmune thrombocy... OMIM:613179
Bare Lymphocyte Syndrome, Type Ii
Viral hepatitis, Cholangitis, Chronic mucocutaneous candidiasis, Agammaglobulinemia, Colitis, Cut... OMIM:209920
Schimke Immunoosseous Dysplasia
Pancytopenia, Abnormal T cell morphology, Anemia, Neutropenia, Lymphopenia, Thrombocytopenia OMIM:242900
Hemophagocytic Syndrome Associated With An Infection
Pancytopenia, Splenomegaly, Abnormal T cell subset distribution, Anemia, Hemophagocytosis, Neutro... ORPHA:158048
Familial Hemophagocytic Lymphohistiocytosis
Splenomegaly, Anemia, Hemophagocytosis, Neutropenia, Thrombocytopenia ORPHA:540
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Eosinophilic infiltration of the esophagus, Perianal abscess, Increased circulating IgE level, Pa... OMIM:618213
Schimke Immuno-Osseous Dysplasia
Thrombocytopenia, Decreased proportion of naive CD8 T cells, Abnormal proportion of naive CD4 T c... ORPHA:1830
Wiskott-Aldrich Syndrome
Autoimmune hemolytic anemia, Eczema, Reduced natural killer cell activity, Increased circulating ... OMIM:301000
Systemic-Onset Juvenile Idiopathic Arthritis
Anterior uveitis, Pericarditis, Skin rash, Autoimmunity, Juvenile rheumatoid arthritis ORPHA:85414
Congenital Disorder Of Glycosylation, Type Iic
Neutrophilia, Reduction of neutrophil motility OMIM:266265
Shwachman-Diamond Syndrome
Normocytic anemia, Acute myeloid leukemia, Macrocytic anemia, Transient neutropenia, Aplastic ane... ORPHA:811
Necrotizing Enterocolitis
Leukocytosis, Thrombocytopenia, Neutropenia ORPHA:391673
Immunodeficiency 55
Absent natural killer cells, Lymphopenia, Neutropenia OMIM:617827
Igg4-Related Kidney Disease
Rheumatoid factor positive, Lymphadenitis, Increased circulating IgG level, Tubulointerstitial ne... ORPHA:449395
3-Methylglutaconic Aciduria Type 7
Infection associated neutropenia, Neutropenia ORPHA:445038
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Thrombocytopenia, Reticulocytopenia, Leukopenia, B lymphocytopenia, Neutropenia, Lymphopenia, Anemia ORPHA:508542
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Increased circulating IgE level, Panhypogammaglobulinemia, Pneumonia, Otitis media OMIM:602450
Autoimmune Polyendocrinopathy Type 4
Atrophic gastritis, Antiphospholipid antibody positivity, Autoimmunity, Autoimmune thrombocytopen... ORPHA:227990
Autosomal Dominant Hyper-Ige Syndrome
Osteomyelitis, Skin rash, Eczema, Increased circulating IgE level, Chronic otitis media ORPHA:2314
Fanconi Anemia, Complementation Group E
Pancytopenia, Reticulocytopenia, Anemia, Neutropenia, Leukemia, Thrombocytopenia OMIM:600901
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Pancytopenia, Megaloblastic anemia, Anemia, Neutropenia, Thrombocytopenia OMIM:277380
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Psoriasiform dermatitis, Recurrent skin infections, Eosinophilic infiltration of the esophagus, I... OMIM:615508
Mucopolysaccharidosis-Plus Syndrome
Splenomegaly, Anemia, Leukopenia, Neutropenia, Thrombocytopenia OMIM:617303
Bone Marrow Failure Syndrome 3
Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Thrombocytopenia, Persistence of hemoglobi... OMIM:617052
Cartilage-Hair Hypoplasia
Impaired lymphocyte transformation with phytohemagglutinin, Macrocytic anemia, Congenital hypopla... OMIM:250250
Hermansky-Pudlak Syndrome 2
Absent platelet dense granules, Decreased CD4:CD8 ratio, Splenomegaly, Hepatosplenomegaly, Enlarg... OMIM:608233
Igg4-Related Thyroid Disease
Autoimmunity, Increased circulating IgG4 level, Anti-thyroid peroxidase antibody positivity, Thyr... ORPHA:64744
Shwachman-Diamond Syndrome 1
Acute myeloid leukemia, Pancytopenia, Persistence of hemoglobin F, Anemia, Neutropenia, Thrombocy... OMIM:260400
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Intermittent thrombocytopenia, Perianal abscess, Erythroid hypoplasia, Thrombocytopenia, Splenome... OMIM:612541
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Sinusitis, Pneumonia, Bronchiectasis, Increased circulating IgM level, Decreased circulating IgA ... OMIM:242860
Autoimmune Polyendocrinopathy Type 3
Atrophic gastritis, Antiphospholipid antibody positivity, Autoimmunity, Autoimmune thrombocytopen... ORPHA:227982
Fanconi Anemia, Complementation Group A
Pancytopenia, Reticulocytopenia, Anemia, Neutropenia, Leukemia, Thrombocytopenia OMIM:227650
Xq28 (MECP2) duplication
Decreased circulating IgA level DECIPHER:45
Methylmalonic Aciduria, Cbla Type
Thrombocytopenia, Pancytopenia, Anemia, Neutropenia OMIM:251100
Diamond-Blackfan Anemia 7
Macrocytic anemia, Increased mean corpuscular volume, Neutropenia OMIM:612562
Kasabach-Merritt Syndrome
Reticulocytosis, Thrombocytopenia, Leukopenia, Microangiopathic hemolytic anemia, Neutropenia, An... ORPHA:2330
Fanconi Anemia, Complementation Group I
Neutropenia OMIM:609053
Immunodeficiency 58
Recurrent cutaneous abscess formation, Eczema, Allergic rhinitis, Seborrheic dermatitis, Recurren... OMIM:618131
3-Methylglutaconic Aciduria, Type Viib
Leukopenia, Thrombocytopenia, Neutropenia OMIM:616271
Deafness-Lymphedema-Leukemia Syndrome
Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acute leukemia, Myeloproliferative disorde... ORPHA:3226
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Pneumonia, Decreased lymphocyte proliferation in response to anti-CD3, Recurrent otitis media, Cu... OMIM:600802
Wolcott-Rallison Syndrome
Iron deficiency anemia, Lymphocytosis, Neutropenia ORPHA:1667
Poikiloderma With Neutropenia
Splenomegaly, Leukopenia, Neutropenia OMIM:604173
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency
Cholangitis, Autoimmunity, Anti-thyroid peroxidase antibody positivity, Hepatitis, Thyroiditis, N... ORPHA:228426
Agammaglobulinemia 1, Autosomal Recessive
B lymphocytopenia, Rectal abscess, Neutropenia OMIM:601495
Chédiak-Higashi Syndrome
Abnormal leukocyte morphology, Pancytopenia, Thrombocytopenia, Splenomegaly, Vacuolated lymphocyt... ORPHA:167
T-Cell Immunodeficiency With Thymic Aplasia
Sinusitis, Pneumonia, Autoimmunity, Atypical or prolonged hepatitis, Thyroiditis, Decreased lymph... ORPHA:83471
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy
Neutropenia, Microcytic anemia OMIM:251900
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Autoimmune hemolytic anemia, Psoriasiform dermatitis, Autoimmunity, Enterocolitis, Decreased circ... OMIM:243150
Sepsis In Premature Infants
Splenomegaly, Leukocytosis, Anemia, Neutropenia, Thrombocytopenia ORPHA:90051
Type 1 Diabetes Mellitus
Autoimmunity OMIM:222100
Fanconi Anemia, Complementation Group C
Pancytopenia, Reticulocytopenia, Anemia, Neutropenia, Leukemia, Thrombocytopenia OMIM:227645
Anti-Glomerular Basement Membrane Disease
Arthritis, Autoimmunity ORPHA:375
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Decreased circulating IgA level OMIM:215250
Hermansky-Pudlak Syndrome 10
Splenomegaly, Neutropenia OMIM:617050
Methylmalonic Acidemia With Homocystinuria Type Cblf
Neutropenia, Megaloblastic anemia ORPHA:79284
Pearson Marrow-Pancreas Syndrome
Sideroblastic anemia, Pancytopenia, Thrombocytopenia, Reticulocytopenia, Neutropenia, Hypoplastic... OMIM:557000
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)
Neutropenia OMIM:615471
Bronchiolitis Obliterans With Obstructive Pulmonary Disease
Bronchiectasis, Autoimmunity, Pneumonia ORPHA:1303
Saul-Wilson Syndrome
Neutropenia OMIM:618150
Lead Poisoning
Abnormality of humoral immunity, Tubulointerstitial nephritis, Increased circulating IgE level, S... ORPHA:330015
Shwachman-Diamond Syndrome 2
Normocytic anemia, Thrombocytopenia, Neutropenia OMIM:617941
Pemphigus Vulgaris
Recurrent cutaneous abscess formation, Autoimmunity ORPHA:704
T-Cell Immunodeficiency With Thymic Aplasia
Recurrent pneumonia, Bronchiectasis, Pyoderma, Reduced delayed hypersensitivity, Eczematoid derma... OMIM:242700
Spondyloenchondrodysplasia With Immune Dysregulation
T lymphocytopenia, Lymphopenia, Autoimmune thrombocytopenia, Neutropenia OMIM:607944
Diamond-Blackfan Anemia
Acute myeloid leukemia, Pure red cell aplasia, Erythroid hypoplasia, Reticulocytopenia, Persisten... ORPHA:124
Wiskott-Aldrich Syndrome
Hemolytic anemia, Abnormal eosinophil morphology, Microcytic anemia, Thrombocytopenia, Chronic le... ORPHA:906
Gamma-Heavy Chain Disease
Autoimmune hemolytic anemia, Skin rash, Autoimmunity, Autoimmune thrombocytopenia, Rheumatoid art... ORPHA:100026
Psoriasis-Related Juvenile Idiopathic Arthritis
Anterior uveitis, Psoriasiform dermatitis, Skin rash, Autoimmunity, Antinuclear antibody positivi... ORPHA:85436
Spondyloenchondrodysplasia
Autoimmune hemolytic anemia, Skin rash, Pneumonia, Autoimmunity, Autoimmune thrombocytopenia, Ant... ORPHA:1855
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly, Leukocytosis... ORPHA:98849
Fusariosis
Brain abscess, Lung abscess, Abnormality of the spleen, Granuloma, Neutropenia, Lymphopenia ORPHA:228119
Igg4-Related Ophthalmic Disease
Sinusitis, Cholangitis, Increased circulating IgG4 level, Keratitis, Orchitis, Antinuclear antibo... ORPHA:449563
Dermatitis Herpetiformis
Autoimmunity, Eczema ORPHA:1656
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Increased circulating IgE level, Recurrent pneumonia, Decreased circulating antibody level, Decre... ORPHA:508533
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Chronic oral candidiasis, Psoriasiform dermatitis, Decreased lymphocyte proliferation in response... ORPHA:221139
Hypocomplementemic Urticarial Vasculitis
Episcleritis, Skin rash, Autoimmunity, Uveitis, Arthritis, Conjunctivitis, Complement deficiency,... ORPHA:36412
Leigh Syndrome
Anemia, Neutropenia ORPHA:506
Vici Syndrome
Leukopenia, T lymphocytopenia, Neutropenia, Decreased proportion of CD4-positive helper T cells, ... OMIM:242840
Congenital Disorder Of Glycosylation With Defective Fucosylation 1
Neutropenia OMIM:618005
Primary Intestinal Lymphangiectasia
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... ORPHA:90362
Microscopic Polyangiitis
Episcleritis, Increased inflammatory response, Pericarditis, Sinusitis, Skin rash, Autoimmunity, ... ORPHA:727
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Hepatitis, Autoimmunity, Hashimoto thyroiditis, Decreased circulating IgA level OMIM:613385
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Neutropenia, Thrombocytopenia, Megaloblastic anemia OMIM:277400
Fanconi Anemia, Complementation Group D2
Pancytopenia, Reticulocytopenia, Anemia, Neutropenia, Leukemia, Thrombocytopenia OMIM:227646
Limited Cutaneous Systemic Sclerosis
Autoimmunity ORPHA:220402
Cohen Syndrome
Neutropenia ORPHA:193
New-Onset Refractory Status Epilepticus
Abnormal circulating interleukin concentration, Infectious encephalitis, Autoimmunity ORPHA:363558
Autoimmune Hemolytic Anemia, Warm Type
Autoimmune hemolytic anemia, Autoimmunity, Systemic lupus erythematosus ORPHA:90033
Trichothiodystrophy
Increased mean corpuscular hemoglobin concentration, Anemia, Neutropenia ORPHA:33364
Primary Biliary Cholangitis
Autoimmunity, Increased circulating IgA level, Antinuclear antibody positivity, Hepatitis, Gastro... ORPHA:186
Relapsing Fever
Neutrophilia, Leukocytosis, Anemia, Leukopenia, Thrombocytopenia ORPHA:91547
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Brain abscess, Neutrophilia, Liver abscess, Anemia ORPHA:54251
Whim Syndrome
Lymphopenia, Abnormal neutrophil morphology, Neutropenia ORPHA:51636
Livedoid Vasculopathy
Superficial dermal perivascular inflammatory infiltrate, Recurrent skin infections, Autoimmunity,... ORPHA:542643
Khan-Khan-Katsanis Syndrome
Lymphopenia, Anemia, Neutropenia OMIM:618460
Igg4-Related Dacryoadenitis And Sialadenitis
Myositis, Autoimmunity, Increased circulating IgG4 level, Increased circulating IgA level, Antinu... ORPHA:79078
Autoimmune Hypoparathyroidism
Autoimmune antibody positivity, Conjunctivitis, Autoimmunity, Chronic mucocutaneous candidiasis ORPHA:36913
Congenital Disorder Of Glycosylation, Type Ig
Decreased circulating total IgM, Decreased circulating IgG level, Recurrent pneumonia, Decreased ... OMIM:607143
Overlap Myositis
Autoimmunity, Antinuclear antibody positivity, Systemic lupus erythematosus, Arthritis, Rheumatoi... ORPHA:206572
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Autoimmunity ORPHA:293964
Encephalitis Lethargica
Increased circulating antibody level, Autoimmunity ORPHA:83600
Dyskeratosis Congenita, Digenic
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level OMIM:620040
Nodular Non-Suppurative Panniculitis
Panniculitis, Inflammatory abnormality of the eye, Autoimmunity ORPHA:33577
Rothmund-Thomson Syndrome
Leukemia, Aplastic anemia, Anemia, Neutropenia ORPHA:2909
Toxic Epidermal Necrolysis
Thrombocytopenia, Anemia, Neutropenia ORPHA:537
Secondary Intestinal Lymphangiectasia
Decreased circulating IgG1 level, Autoimmunity, Decreased circulating antibody level, Decreased c... ORPHA:90363
Congenital Disorder Of Glycosylation, Type Iib
Decreased circulating IgA level, Decreased circulating antibody level OMIM:606056
Insulin-Resistance Syndrome Type B
Skin rash, Pneumonia, Decreased circulating complement factor B concentration, Increased circulat... ORPHA:2298
Diamond-Blackfan Anemia 1
Macrocytic anemia, Congenital hypoplastic anemia, Reticulocytopenia, Persistence of hemoglobin F,... OMIM:105650
Pemphigus Foliaceus
Psoriasiform dermatitis, Autoimmunity, Pustule, Crusting erythematous dermatitis, Erythroderma ORPHA:79481
Purine Nucleoside Phosphorylase Deficiency
Autoimmune hemolytic anemia, Autoimmunity, Systemic lupus erythematosus, Autoimmune thrombocytopenia ORPHA:760
Smith-Kingsmore Syndrome
Decreased circulating IgA level OMIM:616638
Riddle Syndrome
Pneumonia, Recurrent pneumonia, Decreased circulating total IgM, Arthritis, Otitis media, Recurre... ORPHA:420741
Rothmund-Thomson Syndrome Type 1
Leukemia, Aplastic anemia, Anemia, Neutropenia ORPHA:221008
Myotonic Dystrophy 2
Decreased circulating total IgM, Decreased circulating IgG level OMIM:602668
Glycogen Storage Disease Ib
Splenomegaly, Neutropenia OMIM:232220
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Neutropenia, Thrombocytopenia, Megaloblastic anemia ORPHA:79282
Adiposis Dolorosa
Arthritis, Recurrent skin infections, Autoimmunity ORPHA:36397
Lymphoid Interstitial Pneumonia
Skin rash, Eczema, Autoimmunity, Autoimmune antibody positivity, Bronchiectasis, Keratoconjunctiv... ORPHA:79128
Antisynthetase Syndrome
Myositis, Skin rash, Autoimmunity, Myocarditis, Keratoconjunctivitis sicca ORPHA:81
Angioedema, Hereditary, 1
Decreased circulating C1-esterase inhibitor concentration, Autoimmunity, Reduced hemolytic comple... OMIM:106100
Cartilage-Hair Hypoplasia
Anemia, Neutropenia ORPHA:175
Omenn Syndrome
Autoimmunity, Pneumonia, Thyroiditis, Erythroderma ORPHA:39041
Rothmund-Thomson Syndrome Type 2
Leukemia, Aplastic anemia, Anemia, Neutropenia ORPHA:221016
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Panniculitis, Autoimmunity OMIM:618398
Trichinellosis
Skin rash, Increased circulating IgE level, Conjunctivitis ORPHA:863
Intellectual Developmental Disorder, Autosomal Dominant 54
Neutropenia OMIM:617799
Pediatric-Onset Graves Disease
Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Thrombocytopenia ORPHA:525731
Psoriasis 14, Pustular
Leukocytosis, Neutrophilia OMIM:614204
Mogs-Cdg
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... ORPHA:79330
Osteopetrosis, Autosomal Recessive 7
Decreased circulating total IgM, Decreased circulating IgG level, Recurrent pneumonia, Decreased ... OMIM:612301
Intrahepatic Cholestasis Of Pregnancy
Abnormal circulating interleukin concentration, Autoimmunity, Skin rash, Cholecystitis ORPHA:69665
Eosinophilic Granulomatosis With Polyangiitis
Increased inflammatory response, Myositis, Sinusitis, Skin rash, Autoimmunity, Myocarditis, Endoc... ORPHA:183
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Decreased circulating IgA level ORPHA:457485
X-Linked Intellectual Disability, Nascimento Type
Recurrent cutaneous abscess formation, Neutropenia ORPHA:163956
Pearson Syndrome
Reticulocytosis, Pancytopenia, Splenomegaly, Anemia, Neutropenia, Hypoplastic spleen, Thrombocyto... ORPHA:699
Mixed Connective Tissue Disease
Myositis, Pericarditis, Skin rash, Gastritis, Autoimmunity, Myocarditis, Arthritis, Keratoconjunc... ORPHA:809
Bloom Syndrome
Skin rash, Pneumonia, Cheilitis, Uveitis, Decreased circulating antibody level, Decreased circula... ORPHA:125
Hermansky-Pudlak Syndrome
Neutropenia ORPHA:79430
Immunodeficiency 47
Decreased circulating total IgG, Decreased circulating antibody level, Decreased circulating tota... OMIM:300972
Celiac Disease, Susceptibility To, 1
Eczema, Thyroiditis, Recurrent aphthous stomatitis, Stomatitis, Decreased circulating IgA level OMIM:212750
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Neutropenia OMIM:271510
Autoimmune Polyendocrinopathy Type 1
Autoimmunity, Chronic mucocutaneous candidiasis ORPHA:3453
Immunodeficiency 82 With Systemic Inflammation
Osteomyelitis, Decreased circulating total IgG, Pneumonia, Skin rash, Recurrent skin infections, ... OMIM:619381
Kikuchi-Fujimoto Disease
Splenomegaly, Anemia, Leukopenia, Lymphocytosis, Neutropenia, Thrombocytopenia ORPHA:50918
Combined Immunodeficiency Due To Crac Channel Dysfunction
Chronic otitis media, Autoimmunity, Pneumonia ORPHA:169090
Cold Agglutinin Disease
Autoimmunity ORPHA:56425
Bloom Syndrome
Bronchiectasis, Malar rash, Decreased circulating total IgM, Decreased circulating IgG level, Dec... OMIM:210900
Ataxia-Telangiectasia
Decreased circulating IgG level, Sinusitis, Bronchiectasis, Decreased circulating IgG2 level, Def... OMIM:208900
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Neutrophilia, Leukocytosis, Increased proportion of CD4-positive T cells OMIM:617099
Orotic Aciduria
Impaired T cell function OMIM:258900
Zygomycosis
Brain abscess, Splenic abscess, Neutropenia ORPHA:73263
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Abnormal myeloid leukocyte morphology, Chronic neutropenia, Anemia ORPHA:79259
Hereditary Orotic Aciduria
Impaired T cell function ORPHA:30
Localized Scleroderma
Fasciitis, Autoimmunity, Uveitis, Arthritis, Esophagitis, Hashimoto thyroiditis ORPHA:90289
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Neutropenia in presence of anti-neutrop... ORPHA:391487
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Transient neutropenia, Chronic neutropenia ORPHA:500095
Acquired Generalized Lipodystrophy
Abnormality of complement system, Acute pancreatitis, Panniculitis, Autoimmunity ORPHA:79086
Congenital Disorder Of Glycosylation, Type Ia
Pericarditis, Decreased circulating IgG level, Decreased circulating IgA level OMIM:212065
Spondyloepimetaphyseal Dysplasia, Krakow Type
Allergic rhinitis, Decreased circulating total IgM, Eczema OMIM:618162
Pneumocystosis
Abnormal neutrophil count ORPHA:723
Lipodystrophy, Congenital Generalized, Type 4
Recurrent pneumonia, Decreased circulating IgA level OMIM:613327
Diffuse Cutaneous Systemic Sclerosis
Arthritis, Autoimmunity ORPHA:220393
Okur-Chung Neurodevelopmental Syndrome
Decreased circulating IgG level, Decreased circulating IgA level, Decreased circulating antibody ... OMIM:617062
3-Methylglutaconic Aciduria, Type Viii
Neutropenia OMIM:617248
Glycogen Storage Disease Ic
Cyclic neutropenia OMIM:232240
Thauvin-Robinet-Faivre Syndrome
Transient neutropenia OMIM:617107
Extracranial Carotid Artery Aneurysm
Autoimmunity, Arteritis ORPHA:494424
Myasthenia Gravis
Autoimmunity OMIM:254200
Cryptococcosis
Osteomyelitis, Pneumonia, Autoimmunity, Peritonitis, Systemic lupus erythematosus, Prostatitis ORPHA:1546
Dubowitz Syndrome
Decreased circulating IgG level, Eczema, Otitis media, Decreased circulating IgA level OMIM:223370
Monosomy 18Q
Decreased circulating IgA level ORPHA:1600
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Decreased circulating total IgM, Decreased circulating IgA level ORPHA:369837
Simpson-Golabi-Behmel Syndrome
Increased circulating IgE level ORPHA:373
Juvenile Dermatomyositis
Myositis, Pericarditis, Skin rash, Autoimmunity, Arthritis ORPHA:93672
Primary Sclerosing Cholangitis
Autoimmunity, Thyroiditis, Ulcerative colitis, Hepatitis, Uveitis, Polyclonal elevation of IgM, P... ORPHA:171
Sarcoidosis, Susceptibility To, 1
Abnormality of T cell physiology, Iridocyclitis, Bronchiectasis, Uveitis, Arthritis, Inflammation... OMIM:181000
Combined Immunodeficiency-Enteropathy Spectrum
Autoimmune hemolytic anemia, Psoriasiform dermatitis, Autoimmunity, Hepatitis, Hashimoto thyroiditis ORPHA:436252
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level OMIM:620005
Granulomatosis With Polyangiitis
Increased inflammatory response, Pericarditis, Sinusitis, Skin rash, Autoimmunity, Inflammatory a... ORPHA:900
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Anemia, Neutropenia ORPHA:95455
Chronic Thromboembolic Pulmonary Hypertension
Osteomyelitis, Antiphospholipid antibody positivity, Autoimmunity, Inflammation of the large inte... ORPHA:70591
Sponastrime Dysplasia
Neutropenia ORPHA:93357
Aspartylglucosaminuria
Vacuolated lymphocytes, Neutropenia OMIM:208400
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Abnormality of T cell physiology, Psoriasiform dermatitis ORPHA:2237
Viss Syndrome
Chronic gastritis, Eczema, Increased circulating IgE level, Atopic dermatitis, Increased circulat... OMIM:619472
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Decreased circulating total IgM, Superficial dermal perivascular inflammatory infiltrate, Eczema,... ORPHA:83617
Familial Hypocalciuric Hypercalcemia
Autoimmunity, Pancreatitis ORPHA:405
Lipoid Proteinosis
Pustule, Acne ORPHA:530
Lipoid Proteinosis Of Urbach And Wiethe
OMIM:247100

Histopathology

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

There is no histopathology data for Ecm1

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Ecm1.

No publications found that use IMPC mice or data for Ecm1.

Order Mouse and ES Cells

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

MGI Allele Allele Type Produced
Ecm1tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Ecm1tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Ecm1tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Ecm1tm1b(EUCOMM)Hmgu Reporter-tagged deletion allele (with selection cassette) Mice

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