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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
decreased neutrophil cell number Ecm1tm1b(EUCOMM)Hmgu HET Early adult 1.10×10-05
preweaning lethality, incomplete penetrance Ecm1tm1b(EUCOMM)Hmgu HOM   Early adult 0.00

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
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)
Esophagus N/A heterozygote 100% (2 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)
Oral epithelium N/A heterozygote 100% (2 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)
Stomach N/A heterozygote 100% (2 of 2)
Striatum N/A heterozygote 0.0% (0 of 2)
Testis N/A heterozygote 50% (1 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)
Vascular system N/A heterozygote 100% (2 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.

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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Echo

M-Mode Images

28 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 Dorso Ventral

10 Images

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Interactive Embryo Viewer Interactive Embryo Viewer
MicroCT E18.5

Embryo reconstruction

3 Images

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Adult LacZ

LacZ Images Wholemount

4 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

View images

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, Neutropenia, Steroid-responsive anemia 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
B lymphocytopenia, Neutropenia, Monocytosis 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
Myeloperoxidase Deficiency
Diminished neutrophil myeloperoxidase activity OMIM:254600
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
Systemic lupus erythematosus, Anti-dsDNA antibody positivity, Decreased circulating complement C3... OMIM:614420
Immunodeficiency 50
Lymphopenia, Neutropenia OMIM:300988
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Neutropenia ORPHA:70592
Whim Syndrome 2
Chronic neutropenia OMIM:619407
Neutropenia, Severe Congenital, 10, Autosomal Recessive
Anorectal abscess, Monocytosis, Thrombocytopenia, Neutropenia, Anemia OMIM:620534
Lupus Erythematosus Tumidus
Anti-dsDNA antibody positivity, Antinuclear antibody positivity, Deep dermal perivascular inflamm... ORPHA:90283
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Acute monocytic leukemia, Congenital agranulocytosis, Thrombocytosis, Eosinophilia, Neutropenia, ... OMIM:202700
Anemia, Sideroblastic, 5
Reduced hematocrit, Hypochromic microcytic anemia, Thrombocytopenia, Anemia, Neutropenia OMIM:619523
Complement Component 8 Deficiency, Type I
Decreased circulating complement C8 concentration, Systemic lupus erythematosus OMIM:613790
Autoimmune Disease
Autoimmunity, Autoimmune antibody positivity OMIM:109100
Immunoglobulin A Deficiency 2
Decreased circulating IgA level, Autoimmunity OMIM:609529
Felty Syndrome
Splenomegaly, Neutropenia OMIM:134750
Masp2 Deficiency
Reduced circulating complement concentration, Recurrent pneumonia, Ulcerative colitis, Systemic l... OMIM:613791
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Neutropenia ORPHA:90023
Immunodeficiency 25
Recurrent pneumonia, Increased circulating IgE level, Complete or near-complete absence of specif... OMIM:610163
Neutropenia-Monocytopenia-Deafness Syndrome
Abnormality of neutrophils, Abnormal macrophage morphology ORPHA:2690
Pemphigus Vulgaris, Familial
Autoimmunity, Autoimmune antibody positivity OMIM:169610
Immunoglobulin A Deficiency 1
Decreased circulating IgA level, Autoimmunity OMIM:137100
Neutropenia, Severe Congenital, X-Linked
Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia OMIM:300299
Ige Responsiveness, Atopic
Allergic rhinitis, Increased circulating IgE level, Eczematoid dermatitis OMIM:147050
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Neutropenia OMIM:616022
Complement Component C1S Deficiency
Hashimoto thyroiditis, Abnormality of complement system, Hepatitis, Systemic lupus erythematosus OMIM:613783
C1Q Deficiency 1
Decreased circulating complement factor I concentration, Autoimmunity, Membranoproliferative glom... OMIM:613652
Neutrophilia, Hereditary
Splenomegaly, Neutrophilia OMIM:162830
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections
Decreased circulating IgG level, Atopic dermatitis, Increased circulating interleukin 6 concentra... OMIM:618944
Complement Component C1R/C1S Deficiency
Discoid lupus rash, Nephritis, Reduced circulating complement concentration, Autoimmunity, Arthritis OMIM:216950
Neutropenia, Chronic Familial
Neutropenia OMIM:162700
Deafness, Neural, With Atypical Atopic Dermatitis
Increased circulating IgE level, Late onset atopic dermatitis OMIM:221700
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome
Thrombocytopenia, Iron deficiency anemia, Neutropenia, Increased mean platelet volume ORPHA:494444
Immunodeficiency With Hyper-Igm, Type 3
Decreased circulating IgG level, Impaired memory B cell generation, Decreased circulating IgA lev... OMIM:606843
Trimethylaminuria
Anemia, Splenomegaly, Neutropenia OMIM:602079
Myelolymphatic Insufficiency
Leukopenia, Hyposegmentation of neutrophil nuclei OMIM:310350
Immune Deficiency, Familial Variable
Decreased circulating IgG level, Decreased circulating IgA level OMIM:146830
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Increased mean corpuscular volume, Pancytopenia, Acute myeloid leukemia, Thrombocytopenia, Neutro... OMIM:619041
Immunodeficiency, Common Variable, 4
Decreased circulating IgG level, Recurrent pneumonia, Recurrent sinusitis, Complete or near-compl... OMIM:613494
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Neutropenia OMIM:610798
Immunodeficiency With Hyper-Igm, Type 5
Decreased circulating IgG level, Decreased circulating IgA level, Impaired Ig class switch recomb... OMIM:608106
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Abnormality of T cell physiology OMIM:308220
Candidiasis, Familial, 1
Cutaneous anergy, Chronic mucocutaneous candidiasis OMIM:114580
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Recurrent pneumonia, Inflammatory abnormality of the skin, Abnormality of humoral immunity, Lack ... ORPHA:277
Agammaglobulinemia 7, Autosomal Recessive
Reduced natural killer cell count, Neutropenia, Abnormal T cell morphology OMIM:615214
Immunodeficiency, Common Variable, 5
Antinuclear antibody positivity, Chronic decreased circulating total IgG OMIM:613495
Complement Component 4, Partial Deficiency Of
Systemic lupus erythematosus OMIM:120790
Immunodeficiency With Hyper-Igm, Type 2
Decreased circulating IgG level, Decreased circulating IgA level, Complete or near-complete absen... OMIM:605258
Specific Granule Deficiency 1
Increased neutrophil mitochondria, Increased neutrophil ribosomes, Absent neutrophil lactoferrin,... OMIM:245480
Gamma-A-Globulin, Defect In Assembly Of
Decreased circulating IgA level OMIM:137050
Immunodeficiency 53
Impaired lymphocyte transformation with phytohemagglutinin, Neutrophilia OMIM:617585
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Thrombocytopenia, Neutropenia, Anemia OMIM:615285
Amegakaryocytic Thrombocytopenia, Congenital, 2
Aplastic anemia, Pancytopenia, Thrombocytopenia, Neutropenia, Anemia OMIM:620481
Fanconi Anemia, Complementation Group G
Leukemia, Anemia, Neutropenia, Thrombocytopenia OMIM:614082
Thrombocytopenia 5
Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Neutropenia, Thrombocytopenia,... OMIM:616216
Caspase 8 Deficiency
Pneumonia, Decreased circulating IgG level, Eczematoid dermatitis, Decreased circulating IgA leve... OMIM:607271
Insulin Autoimmune Syndrome
Systemic lupus erythematosus, Autoimmunity, Increased circulating antibody level, Arthralgia/arth... ORPHA:411593
Immunodeficiency 61
Recurrent otitis media, Decreased circulating IgG2 level, Recurrent sinusitis, Decreased circulat... OMIM:300310
Alpha-Thalassemia-Myelodysplastic Syndrome
Acute leukemia, HbH hemoglobin, Microcytic anemia, Splenomegaly, Neutropenia, Thrombocytopenia ORPHA:231401
Tn Polyagglutination Syndrome
Autoimmunity OMIM:300622
Immunodeficiency 11B With Atopic Dermatitis
Pneumonia, Atopic dermatitis, Bronchiectasis, Increased circulating IgE level, Colonic eosinophil... OMIM:617638
Immunodeficiency 89 And Autoimmunity
Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 27 concentrati... OMIM:619632
Agammaglobulinemia 4, Autosomal Recessive
Decreased circulating IgG level, Recurrent pneumonia, Recurrent otitis media, Decreased circulati... OMIM:613502
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin
Decreased circulating IgA level OMIM:235500
Immunodeficiency, Common Variable, 14
Decreased circulating IgG level, Defective B cell differentiation, Decreased circulating IgA leve... OMIM:617765
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Decreased specific pneumococcal antibody level, Colitis, Autoimmunity, Minimal change glomerulone... OMIM:617006
Autoimmune Lymphoproliferative Syndrome
Antineutrophil antibody positivity, Platelet antibody positive, Reduced delayed hypersensitivity,... OMIM:601859
Chilblain Lupus
Discoid lupus rash, Inflammatory abnormality of the skin, Systemic lupus erythematosus, Malar ras... ORPHA:90280
Immunodeficiency, Common Variable, 7
Decreased specific pneumococcal antibody level, Decreased circulating total IgG, Decreased circul... OMIM:614699
B-Cell Expansion With Nfkb And T-Cell Anergy
Decreased circulating total IgM, Decreased circulating IgA level, Decreased specific antibody res... OMIM:616452
Immunodeficiency 35
Increased circulating IgE level OMIM:611521
Palmoplantar Keratoderma, Epidermolytic, 1
Increased circulating IgE level OMIM:144200
Hashimoto Thyroiditis
Hashimoto thyroiditis, Autoimmune antibody positivity OMIM:140300
Immunodeficiency 21
Reduced natural killer cell count, Aplastic anemia, Lymphopenia, Anemia, Neutropenia, B lymphocyt... OMIM:614172
Immunodeficiency 86
Decreased circulating IgG level, Impaired oxidative burst, Increased circulating IgM level OMIM:619549
Immunodeficiency 62
Decreased circulating IgG level, Complete or near-complete absence of specific antibody response ... OMIM:618459
Refractory Anemia
Normocytic anemia, Anemia of inadequate production, Macrocytic anemia, Erythroid hypoplasia, Neut... ORPHA:98826
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Decreased circulating IgG level, Inflammation of the large intestine, Eczematoid dermatitis, Chro... ORPHA:98813
Immunodeficiency, Common Variable, 2
Decreased circulating IgG level, Recurrent pneumonia, Impaired T cell function, Recurrent otitis ... OMIM:240500
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Pneumonia, Autoimmune hemolytic anemia, Glomerulonephritis, Increased circulating antibody level OMIM:247800
Immunodeficiency, Common Variable, 3
Chronic decreased circulating total IgG, Recurrent otitis media, Decreased circulating IgA level,... OMIM:613493
Ras-Associated Autoimmune Leukoproliferative Disorder
Pancytopenia, Splenomegaly, Lymphocytosis, Neutropenia, Monocytosis, Leukemia, Autoimmune thrombo... OMIM:614470
Glutathione Synthetase Deficiency
Hemolytic anemia, Neutropenia OMIM:266130
Severe Combined Immunodeficiency, X-Linked
Pneumonia, Decreased circulating IgG level, Recurrent pneumonia, Decreased circulating IgA level,... OMIM:300400
Diamond-Blackfan Anemia 4
Erythroid hypoplasia, Reticulocytopenia, Neutropenia, Macrocytic anemia OMIM:612527
Agammaglobulinemia 10, Autosomal Dominant
Decreased circulating IgG level, Decreased circulating IgA level, Recurrent sinusitis, Agammaglob... OMIM:619707
Agammaglobulinemia 3, Autosomal Recessive
Absent circulating B cells, Neutropenia, Abnormal T cell morphology OMIM:613501
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Megaloblastic erythroid hyperplasia, Hypochromic anemia, Pancytopenia, Erythro... ORPHA:75564
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Herpes simplex encephalitis, Recurrent otitis media, Increased circulating IgE level, Increased c... OMIM:618982
Transcobalamin Deficiency
Lymphopenia, Pancytopenia, Thrombocytopenia, Neutropenia ORPHA:859
Neutropenia, Severe Congenital, 3, Autosomal Recessive
Acute lymphoblastic leukemia, Neutropenia OMIM:610738
Panniculitis-Induced Localized Lipodystrophy
Abnormal immunoglobulin level, Inflammatory abnormality of the skin, Antinuclear antibody positivity ORPHA:90159
Agammaglobulinemia 2, Autosomal Recessive
Recurrent pneumonia, Recurrent otitis media, Decreased circulating IgA level, Agammaglobulinemia,... OMIM:613500
Ataxia-Pancytopenia Syndrome
Acute myelomonocytic leukemia, Pancytopenia, Thrombocytopenia, Neutropenia, Anemia, Hypoplastic a... OMIM:159550
Agammaglobulinemia 6, Autosomal Recessive
Decreased circulating IgG level, Recurrent pneumonia, Recurrent otitis media, Decreased circulati... OMIM:612692
Diamond-Blackfan Anemia 8
Neutropenia, Increased mean corpuscular volume, Macrocytic anemia OMIM:612563
Immunodeficiency, Common Variable, 11
Increased circulating IgE level, Decreased circulating IgG level, Inflammation of the large intes... OMIM:615767
Immunodeficiency 46
Anemia, Neutropenia, Intermittent thrombocytopenia OMIM:616740
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Eczematoid dermatitis, Increased circulating IgE level, Reduced delayed hypersensitivity, Reduced... OMIM:617241
Igg4-Related Aortitis
Increased circulating IgE level, Increased circulating IgG4 level, Reduced circulating complement... ORPHA:449400
Immunodeficiency 44
Decreased circulating total IgM, Decreased circulating IgA level, Abnormal circulating IgG level OMIM:616636
Immunodeficiency 18
Recurrent pneumonia, Recurrent otitis media, Abnormal circulating IgG level, Defective T cell pro... OMIM:615615
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hemophagocytosis, Splenomegaly, Thrombocytopenia, Neutropenia, Anemia OMIM:603552
Immunodeficiency, Common Variable, 1
Pneumonia, Decreased circulating IgG level, Recurrent pneumonia, Impaired T cell function, Recurr... OMIM:607594
Pontocerebellar Hypoplasia, Type 15
Anemia, Chronic neutropenia, Thrombocytopenia OMIM:619302
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hepatitis, Systemic lupus erythematosus, Recurrent otitis media, Autoimmunity, Autoimmune hemolyt... ORPHA:444463
Immunodeficiency 64 With Lymphoproliferation
Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Anti-... OMIM:618534
Folate Malabsorption, Hereditary
Leukopenia, Folate-responsive megaloblastic anemia, Thrombocytopenia, Neutropenia OMIM:229050
Pontocerebellar Hypoplasia, Type 14
Chronic neutropenia, Thrombocytopenia OMIM:619301
Spinocerebellar Ataxia, Autosomal Recessive 23
Neutropenia OMIM:616949
Persistent Polyclonal B-Cell Lymphocytosis
Decreased circulating total IgM OMIM:606445
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Abnormal reticulocyte morphology, Elliptocytosis, Macrocytic anemia, Anisocytosis, Neutropenia, P... OMIM:300835
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, Splenomegaly, Abscess, Neutropenia, B lymphocytopenia, Intermittent throm... OMIM:150550
Immunodeficiency 11A
Agammaglobulinemia, Decreased circulating antibody level, Reduced antigen-specific T cell prolife... OMIM:615206
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Splenomegaly, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, ... ORPHA:231154
Alopecia Areata 1
Autoimmunity OMIM:104000
Immunodeficiency 70
Decreased circulating total IgG, Recurrent sinusitis, Decreased circulating total IgA, Decreased ... OMIM:618969
Immunodeficiency 60 And Autoimmunity
Decreased circulating IgG level, Bronchiectasis, Decreased circulating IgA level, Crohn's disease... OMIM:618394
Fanconi Anemia, Complementation Group V
Anemia, Thrombocytopenia, Neutropenia OMIM:617243
Adult Idiopathic Neutropenia
Monocytopenia, Lymphopenia, Neutropenia, Monocytosis ORPHA:2688
Kimura Disease
Increased circulating IgE level ORPHA:482
Subcorneal Pustular Dermatosis
Rheumatoid arthritis, Systemic lupus erythematosus, Autoimmunity, Increased circulating antibody ... ORPHA:48377
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Hepatosplenomegaly, Congenital thrombocytopenia, Neutropenia, Thrombocytopenia, Anemia OMIM:616738
Autoimmune Disease, Multisystem, Infantile-Onset, 3
Decreased specific pneumococcal antibody level, Partial absence of specific antibody response to ... OMIM:620430
Wolfram Syndrome, Mitochondrial Form
Sideroblastic anemia, Neutropenia, Megaloblastic anemia, Thrombocytopenia OMIM:598500
Autoimmune Lymphoproliferative Syndrome, Type Iia
Nephritis, Antineutrophil antibody positivity, Platelet antibody positive, Reduced delayed hypers... OMIM:603909
Reticular Dysgenesis
Impaired T cell function, Lack of T cell function OMIM:267500
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Atrophic gastritis, Decreased circulating IgG level, Eczematoid dermatitis, Decreased circulating... OMIM:616100
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Atopic dermatitis, Recurrent pneumonia, Decreased circulating IgG level, Cutaneous abscess, Chron... OMIM:619752
Bone Marrow Failure Syndrome 6
Increased mean corpuscular volume, Persistence of hemoglobin F, Lymphopenia, Neutropenia, Anemia OMIM:618849
Immunodeficiency 14B, Autosomal Recessive
Decreased circulating IgG level, Inflammation of the large intestine, Recurrent pneumonia, Decrea... OMIM:619281
Eosinophilopenia
Allergic rhinitis, Autoimmunity OMIM:131430
Immunodeficiency, Common Variable, 10
Decreased circulating IgG level, Recurrent pneumonia, Anti-thyroglobulin antibody positivity, Rec... OMIM:615577
Wiskott-Aldrich Syndrome 2
Reduced natural killer cell activity, Defective T cell proliferation, Eczematoid dermatitis OMIM:614493
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant
Increased circulating IgE level, Eczematoid dermatitis, Thyroiditis OMIM:618985
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Atopic dermatitis, Recurrent pneumonia, Eczematoid dermatitis, Cutaneous abscess, Chronic mucocut... OMIM:618282
Complement Component 4A Deficiency
Decreased circulating complement C4 concentration, Glomerulonephritis, Reduced circulating CH50 a... OMIM:614380
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Decreased circulating total IgM, Decreased circulating IgG level OMIM:618987
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Decreased circulating IgG level, Recurrent aphthous stomatitis, Decreased circulating IgA level, ... ORPHA:275
Whim Syndrome 1
Neutropenia OMIM:193670
Hyper-Ige Syndrome 6, Autosomal Dominant, With Recurrent Infections
Increased circulating IgE level, Atopic dermatitis, Eosinophilic infiltration of the esophagus, R... OMIM:620532
Slc35A1-Cdg
Thrombocytopenia, Neutropenia, Giant platelets, Abnormal platelet granules ORPHA:238459
Immunodeficiency 52
Recurrent pneumonia, Decreased circulating IgA level, Defective T cell proliferation, Autoimmune ... OMIM:617514
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections
Keratitis, Eczematoid dermatitis, Recurrent otitis media, Increased circulating IgE level, Bronch... OMIM:618523
Hemochromatosis, Type 3
Anemia, Lymphopenia, Neutropenia OMIM:604250
Systemic Lupus Erythematosus 17
Myelitis, Anti-aquaporin 4 antibody positivity, Systemic lupus erythematosus, Decreased circulati... OMIM:301080
Autoimmune Lymphoproliferative Syndrome, Type Iii
Anticardiolipin IgG antibody positivity, Recurrent otitis media, Decreased circulating complement... OMIM:615559
Immunodeficiency 102
Decreased circulating IgG level, Increased circulating interleukin 6 concentration, Decreased cir... OMIM:301082
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Cutaneous anergy OMIM:183350
Inflammatory Skin And Bowel Disease, Neonatal, 2
Increased circulating IgE level, Recurrent pneumonia, Pustule OMIM:616069
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Allergic rhinitis, Atopic dermatitis, Recurrent pneumonia, Eczematoid dermatitis, Cutaneous absce... OMIM:243700
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Atrophic gastritis, Pneumonia, Inflammation of the large intestine, Atopic dermatitis, Decreased ... ORPHA:436159
Idiopathic Aplastic Anemia
Pancytopenia, Reticulocytopenia, Thrombocytopenia, Neutropenia, Anemia ORPHA:88
Immunodeficiency 67
Abnormal T cell count, Transient neutropenia, Abnormal B cell count, Abnormal natural killer cell... OMIM:607676
Immunodeficiency 33
Decreased circulating total IgM, Increased circulating IgA level OMIM:300636
Neutropenia, Severe Congenital, 8, Autosomal Dominant
Neutropenia OMIM:618752
Combined Immunodeficiency Due To Dock8 Deficiency
Pneumonia, Atopic dermatitis, Increased circulating IgE level, Recurrent sinusitis, Chronic otiti... ORPHA:217390
Mucous Membrane Pemphigoid
Autoimmunity ORPHA:46486
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Abnormally low T cell receptor excision circle level, Lymphopenia, Hepatosplenomegaly, Pancytopen... OMIM:618986
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased specific anti-polysaccharide antibody level, Recurrent otitis media, Recurrent sinusiti... OMIM:300853
Activated Pi3K-Delta Syndrome
Pneumonia, Recurrent otitis media, Decreased circulating antibody level, Autoimmunity, Chronic si... ORPHA:397596
Lymphoproliferative Syndrome, X-Linked, 1
Abnormal T cell count, Aplastic anemia, Hemophagocytosis, Pancytopenia, Abnormal B cell count, Sp... OMIM:308240
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Decreased proportion of CD8-positive T cells, Lymphopenia, Hepatosplenomegaly, Decreased proporti... ORPHA:169154
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Autoimmune thrombocytopenia, Fluctuating splenomegaly, Neutropenia in presence of anti-neutropil ... OMIM:619220
Disabling Pansclerotic Morphea Of Childhood
Lymphopenia, Neutropenia OMIM:620443
Immunodeficiency 105
Decreased circulating IgG level, Decreased circulating IgA level, Skin rash, Decreased circulatin... OMIM:619924
Subacute Cutaneous Lupus Erythematosus
Discoid lupus rash, Anti-Ro/SS-A antibody positivity, Anti-dsDNA antibody positivity, Malar rash,... 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
Immunodeficiency 96
Decreased circulating IgG level, Eczematoid dermatitis, Recurrent otitis media, Decreased circula... OMIM:619774
Agammaglobulinemia 8B, Autosomal Recessive
Decreased circulating IgG level, Recurrent pneumonia, Partial absence of specific antibody respon... OMIM:619824
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Recurrent otitis media, Autoimmunity, Autoimmune hemolytic anemia, Lymphocytic interstitial pneum... OMIM:618495
Immunodeficiency 103, Susceptibility To Fungal Infections
Increased circulating IgE level, Chronic oral candidiasis OMIM:212050
Inclusion Body Myositis
Autoimmunity ORPHA:611
Autoinflammatory Disease, Systemic, X-Linked
Decreased circulating IgG level, Panuveitis, Osteomyelitis, Decreased circulating antibody level,... OMIM:301081
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Increased circulating IgE level ORPHA:1858
Immunodeficiency, Common Variable, 12, With Autoimmunity
Atrophic gastritis, Recurrent pneumonia, Recurrent skin infections, Autoimmune hemolytic anemia, ... OMIM:616576
Immunodeficiency 7
Hypereosinophilia, Splenomegaly, Neutropenia, Autoimmune hemolytic anemia OMIM:615387
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Absent circulating B cells, Decreased proportion of class-switched memory B cells, Neutropenia, B... OMIM:619705
Cernunnos-Xlf Deficiency
Decreased circulating antibody level, Autoimmunity ORPHA:169079
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Reduced natural killer cell count, Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Splenomega... ORPHA:158057
Immunodeficiency With Hyper-Igm, Type 1
Decreased circulating IgG level, Impaired memory B cell generation, Hepatitis, Abnormal circulati... OMIM:308230
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature
Decreased circulating total IgM, Bronchiectasis OMIM:615139
Immunodeficiency By Defective Expression Of Mhc Class Ii
Decreased lymphocyte proliferation in response to mitogen, Abnormality of humoral immunity, Chron... ORPHA:572
Dystrophic Epidermolysis Bullosa Pruriginosa
Increased circulating IgE level ORPHA:89843
Autoimmune Lymphoproliferative Syndrome
Systemic lupus erythematosus, Increased circulating IgE level, Increased circulating antibody lev... ORPHA:3261
Microcephalic Primordial Dwarfism, Toriello Type
Neutropenia ORPHA:2643
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level OMIM:611926
Inflammatory Skin And Bowel Disease, Neonatal, 1
Increased circulating IgE level, Blepharitis, Erythroderma, Pustule OMIM:614328
Specific Granule Deficiency 2
Anemia, Absent neutrophil specific granules, Thrombocytopenia, Neutropenia OMIM:617475
Autosomal Dominant Severe Congenital Neutropenia
Aplastic anemia, Lymphopenia, Eosinophilia, Acute myeloid leukemia, Neutropenia, Monocytosis, Leu... ORPHA:486
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Abnormally low T cell receptor excision circle level, Reduction of neutrophil motility, Rectal ab... OMIM:608203
Immunodeficiency 98 With Autoinflammation, X-Linked
Hemophagocytosis, Agranulocytosis, Autoimmune hemolytic anemia, Splenomegaly, B lymphocytopenia, ... OMIM:301078
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Anemia, Thrombocytopenia, Neutropenia ORPHA:289916
Hypotrichosis Simplex Of The Scalp
Allergic rhinitis, Atopic dermatitis, Increased circulating IgE level ORPHA:90368
Pelger-Huet Anomaly
Giant platelets, Hyposegmentation of neutrophil nuclei, Thrombocytopenia, Neutropenia, Abnormalit... OMIM:169400
Griscelli Syndrome Type 2
Splenomegaly, Pancytopenia, Hemophagocytosis, Neutropenia ORPHA:79477
C3 Glomerulopathy
Paraproteinemia, Autoimmunity, Decreased circulating complement C4 concentration, Membranoprolife... ORPHA:329918
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Eczematoid dermatitis, Hepatitis, Increased circulating IgE level, Erythroderma, Glomerulonephrit... OMIM:304790
Imerslund-Gräsbeck Syndrome
Anisopoikilocytosis, Hypersegmentation of neutrophil nuclei, Pancytopenia, Reticulocytosis, Macro... ORPHA:35858
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Anemia, Neutropenia OMIM:617056
Immunodeficiency 81
Skin rash, Autoimmune hemolytic anemia, Impaired neutrophil chemotaxis, Reduced antigen-specific ... OMIM:619374
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Anemia, Thrombocytopenia, Splenomegaly, Neutropenia ORPHA:79312
Diabetes Mellitus, Ketosis-Prone
Autoimmunity OMIM:612227
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Lymph... ORPHA:331206
Immunodeficiency 22
Decreased circulating IgG level, Decreased circulating IgE, Decreased circulating IgA level, Auto... OMIM:615758
Aggressive Systemic Mastocytosis
Hepatosplenomegaly, Pancytopenia, Hypersplenism, Leukocytosis, Increased proportion of CD25+ mast... ORPHA:98850
Peeling Skin Syndrome 1
Increased circulating IgE level, Erythroderma OMIM:270300
Immunodeficiency 10
Decreased circulating IgG level, Recurrent pneumonia, Recurrent otitis media, Decreased circulati... OMIM:612783
Febrile Infection-Related Epilepsy Syndrome
Autoimmunity, Sinusitis ORPHA:163703
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Pneumonia, Decreased circulating IgG level, Recurrent pneumonia, Decreased lymphocyte proliferati... ORPHA:169160
Ziegler-Huang Syndrome
Neutropenia, Macrocytic anemia, Persistence of hemoglobin F OMIM:620501
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Pneumonia, Decreased circulating IgG level, Decreased circulating IgA level, Decreased circulatin... OMIM:614069
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Decreased circulating IgA level, Recurrent skin infections, Decreased circulating antibody level OMIM:617744
Pgm3-Cdg
Allergic rhinitis, Atopic dermatitis, Recurrent pneumonia, Bronchiectasis, Bone marrow hypocellul... ORPHA:443811
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Inflammatory abnormality of the skin, Increased circulating IgE level, Psoriasiform dermatitis, C... ORPHA:37042
Idiopathic Chronic Eosinophilic Pneumonia
Increased circulating IgE level, Atopic dermatitis, Autoimmunity ORPHA:2902
Immunodeficiency 114, Folate-Responsive
Increased circulating IgE level, Atopic dermatitis, Decreased circulating IgG level OMIM:620603
Systemic Lupus Erythematosus
Nephritis, Systemic lupus erythematosus, Malar rash, Antinuclear antibody positivity, Antiphospho... OMIM:152700
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Decreased specific anti-polysaccharide antibody level, Eczematoid dermatitis, Decreased lymphocyt... OMIM:606367
Immunodeficiency 112
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... OMIM:620449
Netherton Syndrome
Allergic rhinitis, Decreased circulating IgG level, Eczematoid dermatitis, Increased circulating ... OMIM:256500
Systemic Lupus Erythematosus, Susceptibility To, 6
Systemic lupus erythematosus, Malar rash, Antinuclear antibody positivity, Arthritis, Pericarditis OMIM:609939
Congenital Disorder Of Glycosylation, Type Iif
Macrothrombocytopenia, Thrombocytopenia, Neutropenia OMIM:603585
Pemphigus Erythematosus
Anti-acetylcholine receptor antibody positivity, Systemic lupus erythematosus, Malar rash, Autoim... ORPHA:79480
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Pneumonia, Recurrent pneumonia, Inflammatory abnormality of the skin, Chronic mucocutaneous candi... OMIM:102700
Immunodeficiency 85 And Autoimmunity
Decreased circulating IgG level, Eczematoid dermatitis, Decreased circulating IgA level, Oligoart... OMIM:619510
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Systemic lupus erythematosus, Anti-dsDNA antibody positivity, Antinuclear antibody positivity, An... OMIM:619375
Autoimmune Hepatitis
Antineutrophil antibody positivity, Inflammation of the large intestine, Sclerosing cholangitis, ... ORPHA:2137
Aregenerative Anemia
Pancytopenia, Decreased proportion of CD4-positive helper T cells, Abnormal proportion of CD8-pos... ORPHA:101096
3-Methylglutaconic Aciduria, Type Viia
Anemia, Neutropenia, Anisopoikilocytosis OMIM:619835
Developmental And Epileptic Encephalopathy 66
Anemia, Neutropenia OMIM:618067
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Bone marrow hypocellularity, Eczematoid dermatitis, Systemic lupus erythematosus OMIM:616871
Linear Iga Dermatosis
Inflammation of the large intestine, Autoimmunity ORPHA:46488
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Decreased circulating IgA level, Interstitial pneumonitis, Enterocolitis, Decreased circulating t... OMIM:614878
Immunodeficiency, Common Variable, 8, With Autoimmunity
Atrophic gastritis, Pneumonia, Inflammation of the large intestine, Recurrent pneumonia, Decrease... OMIM:614700
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Recurrent pneumonia, Eczematoid dermatitis, Autoimmunity, Septic arthritis, Decreased circulating... OMIM:617780
Immunodeficiency 97 With Autoinflammation
Decreased proportion of CD4+CD25+ regulatory T cells, Reduced natural killer cell count, Granulom... OMIM:619802
Immunodeficiency 92
Pneumonia, Decreased circulating IgG level, Partial absence of specific antibody response to teta... OMIM:619652
Onychotrichodysplasia And Neutropenia
Lymphocytosis, Chronic neutropenia, Neutropenia OMIM:258360
Bullous Pemphigoid
Eczematoid dermatitis, Anti-BP180 antibody positivity, Psoriasiform dermatitis, Autoimmunity, Ant... ORPHA:703
Selective Igm Deficiency
Allergic rhinitis, Rheumatoid arthritis, Lymphadenitis, Systemic lupus erythematosus, Autoimmune ... ORPHA:331235
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Allergic rhinitis, Rheumatoid arthritis, Systemic lupus erythematosus, Recurrent otitis media, Ps... ORPHA:183675
Sneddon Syndrome
Decreased circulating total IgM, Antiphospholipid antibody positivity OMIM:182410
Letterer-Siwe Disease
Anemia, Hepatosplenomegaly, Neutropenia, Thrombocytopenia OMIM:246400
Immunodeficiency 23
Allergic rhinitis, Eczematoid dermatitis, Chronic mucocutaneous candidiasis, Increased circulatin... OMIM:615816
Neonatal Lupus Erythematosus
Aplastic anemia, Pancytopenia, Splenomegaly, Neutropenia, Thrombocytopenia, Anemia, Hemolytic anemia ORPHA:398124
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Eczematoid dermatitis, Decreased circulating antibody level, Interstitial pneumonitis, Autoimmune... OMIM:615952
Neonatal Alloimmune Neutropenia
Neutropenia in presence of anti-neutropil antibodies ORPHA:464370
Unclassified Myelodysplastic Syndrome
Bone marrow hypocellularity, Autoimmunity ORPHA:98827
Thymoma
Rheumatoid arthritis, Anti-acetylcholine receptor antibody positivity, Systemic lupus erythematos... ORPHA:99867
Iga Pemphigus
Cutaneous abscess, Neutrophilic infiltration of the skin, Pustule, Increased circulating IgA leve... ORPHA:555905
Oligoarticular Juvenile Idiopathic Arthritis
Abnormal circulating interleukin concentration, Rheumatoid arthritis, Increased circulating inter... ORPHA:85410
Epilepsy-Telangiectasia Syndrome
Decreased circulating IgA level, Decreased circulating antibody level ORPHA:1951
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature
Lymphopenia, Leukopenia, Neutropenia, Schistocytosis, Anemia, Thrombocytopenia, Hemolytic anemia OMIM:301110
Immunodeficiency 110 With Lymphoproliferation
Lymphopenia, Autoimmune hemolytic anemia, Neutropenia OMIM:614868
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type
Megaloblastic anemia, Neutropenia OMIM:250940
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Inflammation of the large intestine, Interface hepatitis, Sclerosing cholangitis, Anti-liver cyto... ORPHA:562639
Immunodeficiency 36 With Lymphoproliferation
Decreased circulating IgG level, Decreased circulating IgA level, Autoimmunity, Increased circula... OMIM:616005
Sjogren Syndrome
Tubulointerstitial nephritis, Rheumatoid arthritis, Autoimmunity, Keratoconjunctivitis sicca OMIM:270150
Netherton Syndrome
Eczematoid dermatitis, Increased circulating IgE level, Skin rash, Erythroderma, Decreased circul... ORPHA:634
Secondary Non-Traumatic Avascular Necrosis
Rheumatoid arthritis, Autoimmunity, Systemic lupus erythematosus ORPHA:399180
Propionic Acidemia
Anemia, Pancytopenia, Thrombocytopenia, Neutropenia OMIM:606054
Acquired Ichthyosis
Recurrent skin infections, Autoimmunity ORPHA:454
Rasmussen Subacute Encephalitis
Anti-dsDNA antibody positivity, Autoimmunity, Antinuclear antibody positivity, Decreased circulat... ORPHA:1929
Evans Syndrome
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutrop... ORPHA:1959
X-Linked Agammaglobulinemia
Recurrent pneumonia, Hepatitis, Osteomyelitis, Autoimmunity, Skin rash, Agammaglobulinemia, Arthr... ORPHA:47
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Thrombocytopenia, Normochromic anemia, Neutropenia OMIM:614857
Diffuse Alveolar Hemorrhage
Antineutrophil antibody positivity, Autoimmunity, Antiphospholipid antibody positivity, Antinucle... ORPHA:90060
Immunodeficiency 32B
Impaired oxidative burst, Splenomegaly, Eosinophilia, Monocytopenia, Thrombocytopenia, Neutrophil... OMIM:226990
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Decreased circulating total IgM, Decreased circulating IgG level, Recurrent skin infections OMIM:620210
Congenital Enterovirus Infection
Leukopenia, Leukocytosis, Abnormal macrophage morphology, Neutropenia, Thrombocytopenia, Anemia ORPHA:292
Macrophage Activation Syndrome
Hemophagocytosis, Splenomegaly, Neutropenia, Thrombocytopenia, Anemia, Abnormal natural killer ce... ORPHA:158061
Lymphoproliferative Syndrome 1
Decreased circulating IgG level, Decreased circulating antibody level, Autoimmunity, Autoimmune h... OMIM:613011
Acquired Partial Lipodystrophy
Decreased circulating complement C3 concentration, Autoimmunity ORPHA:79087
Aspergillosis
Pneumonia, Keratitis, Hepatitis, Increased circulating IgE level, Osteomyelitis, Infectious encep... ORPHA:1163
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Pneumonia, Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mit... ORPHA:276
Acute Promyelocytic Leukemia
Pancytopenia, Leukopenia, Leukocytosis, Neutropenia, Thrombocytopenia, Anemia ORPHA:520
Isolated Agammaglobulinemia
Pneumonia, Autoimmunity, Otitis media, Skin rash, Arthritis, Sinusitis, Inflammatory abnormality ... ORPHA:229717
Chediak-Higashi Syndrome
Hemophagocytosis, Leukopenia, Giant neutrophil granules, Splenomegaly, Abnormal dense granules, N... OMIM:214500
Cyclic Neutropenia
Lymphopenia, Cyclic neutropenia, Perianal abscess, Tooth abscess, Thrombocytopenia, Decreased eos... ORPHA:2686
Bronchiolitis Obliterans
Pneumonia, Autoimmunity, Bronchiectasis ORPHA:1303
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency
Anemia, Thrombocytopenia, Neutropenia OMIM:614520
Transcobalamin Ii Deficiency
Pancytopenia, Macrocytic anemia, Erythroid hypoplasia, Reticulocytopenia, Neutropenia, Anemia OMIM:275350
Igg4-Related Submandibular Gland Disease
Increased circulating IgE level, Increased circulating IgG4 level, Reduced circulating complement... ORPHA:449432
Barth Syndrome
Hypochromic microcytic anemia, Granulocytopenia, Cyclic neutropenia, Neutropenia OMIM:302060
Methylcobalamin Deficiency Type Cble
Macrocytic anemia, Pancytopenia, Increased mean corpuscular volume, Neutropenia ORPHA:2169
Mitochondrial Complex I Deficiency, Nuclear Type 33
Neutropenia OMIM:618253
Developmental Delay, Hypotonia, And Impaired Language
Neutropenia OMIM:620012
Immunodeficiency 113 With Autoimmunity And Autoinflammation
Minimal change glomerulonephritis, Eczematoid dermatitis, Hepatitis, Increased circulating IgE le... OMIM:620565
Diamond-Blackfan Anemia 11
Neutropenia, Anemia of inadequate production OMIM:614900
Acute Generalized Exanthematous Pustulosis
Eosinophilia, Leukocytosis, Neutropenia, Neutrophilia ORPHA:293173
Agammaglobulinemia, X-Linked
Decreased circulating IgG level, Recurrent pneumonia, Bronchiectasis, Septic arthritis, Recurrent... OMIM:300755
Igg4-Related Kidney Disease
Arteritis, Inflammatory abnormality of the skin, Lymphadenitis, Increased circulating IgE level, ... ORPHA:449395
Mixed-Type Autoimmune Hemolytic Anemia
Autoimmune hemolytic anemia, Autoimmunity, Skin rash, Systemic lupus erythematosus ORPHA:90036
Dyskeratosis Congenita, Autosomal Dominant 2
Aplastic anemia, Pancytopenia, Leukopenia, Thrombocytopenia, Neutropenia OMIM:613989
Cohen Syndrome
Leukopenia, Neutropenia OMIM:216550
Felty Syndrome
Abnormal lymphocyte morphology, Splenomegaly, Thrombocytopenia, Neutropenia, Anemia ORPHA:47612
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Leukopenia, Thrombocytopenia, Neutropenia OMIM:251000
Thrombocytopenia 1
Increased circulating IgE level, Increased circulating IgA level, Eczematoid dermatitis OMIM:313900
Urban-Rogers-Meyer Syndrome
Increased circulating IgE level ORPHA:3409
Autosomal Agammaglobulinemia
Neutropenia ORPHA:33110
Mhc Class Ii Deficiency 1
Cutaneous anergy, Chronic mucocutaneous candidiasis, Panhypogammaglobulinemia, Infectious encepha... OMIM:209920
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Increased circulating IgE level, Pancolitis, Eosinophilic infiltration of the esophagus, Decrease... OMIM:618213
Systemic-Onset Juvenile Idiopathic Arthritis
Anterior uveitis, Autoimmunity, Skin rash, Arthritis, Juvenile rheumatoid arthritis, Pericarditis ORPHA:85414
Trichothiodystrophy 3, Photosensitive
Lymphopenia, Neutropenia OMIM:616395
Schimke Immunoosseous Dysplasia
Lymphopenia, Pancytopenia, Abnormal T cell morphology, Thrombocytopenia, Neutropenia, Anemia OMIM:242900
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Decreased circulating IgG level, Recurrent pneumonia, Decreased lymphocyte proliferation in respo... ORPHA:35078
Familial Hemophagocytic Lymphohistiocytosis
Hemophagocytosis, Splenomegaly, Thrombocytopenia, Neutropenia, Anemia ORPHA:540
Schimke Immuno-Osseous Dysplasia
Abnormal proportion of naive CD4 T cells, Lymphopenia, Decreased proportion of naive CD8 T cells,... ORPHA:1830
Congenital Disorder Of Glycosylation, Type Iic
Reduction of neutrophil motility, Neutrophilia OMIM:266265
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Lymphopenia, Leukopenia, Reticulocytopenia, B lymphocytopenia, Neutropenia, Thrombocytopenia, Anemia ORPHA:508542
Wiskott-Aldrich Syndrome
Inflammation of the large intestine, Recurrent pneumonia, Decreased specific anti-polysaccharide ... OMIM:301000
Autoimmune Polyendocrinopathy Type 4
Atrophic gastritis, Rheumatoid arthritis, Hepatitis, Autoimmunity, Antiphospholipid antibody posi... ORPHA:227990
Hemophagocytic Syndrome Associated With An Infection
Hemophagocytosis, Pancytopenia, Abnormal T cell subset distribution, Splenomegaly, Neutropenia, T... ORPHA:158048
Immunodeficiency 9
Decreased circulating IgG level, Decreased circulating IgA level, Recurrent aphthous stomatitis, ... OMIM:612782
3-Methylglutaconic Aciduria Type 7
Infection associated neutropenia, Neutropenia ORPHA:445038
Shwachman-Diamond Syndrome
Normocytic anemia, Aplastic anemia, Increased mean corpuscular volume, Pancytopenia, Leukopenia, ... ORPHA:811
Immunodeficiency 55
Lymphopenia, Absent natural killer cells, Neutropenia OMIM:617827
Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency
Eczematoid dermatitis, Increased circulating IgE level, Osteomyelitis, Skin rash, Chronic otitis ... ORPHA:2314
Dyskeratosis Congenita, Autosomal Dominant 3
Aplastic anemia, Pancytopenia, Leukopenia, Macrocytic anemia, Neutropenia, Thrombocytopenia, Anemia OMIM:613990
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Increased circulating IgE level, Psoriasiform dermatitis, Eosinophilic infiltration of the esopha... OMIM:615508
Methylmalonic Aciduria, Cblb Type
Anemia, Pancytopenia, Thrombocytopenia, Neutropenia OMIM:251110
Igg4-Related Thyroid Disease
Anti-thyroglobulin antibody positivity, Increased circulating IgG4 level, Autoimmunity, Sclerosin... ORPHA:64744
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Increased circulating IgE level, Pneumonia, Otitis media, Panhypogammaglobulinemia OMIM:602450
Fanconi Anemia, Complementation Group E
Pancytopenia, Anemia, Reticulocytopenia, Neutropenia, Thrombocytopenia, Leukemia OMIM:600901
Cartilage-Hair Hypoplasia
Lymphopenia, Macrocytic anemia, Impaired lymphocyte transformation with phytohemagglutinin, Conge... OMIM:250250
Autoimmune Polyendocrinopathy Type 3
Atrophic gastritis, Rheumatoid arthritis, Hepatitis, Autoimmunity, Hashimoto thyroiditis, Antipho... ORPHA:227982
Mucopolysaccharidosis-Plus Syndrome
Leukopenia, Splenomegaly, Thrombocytopenia, Neutropenia, Anemia OMIM:617303
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Pancytopenia, Megaloblastic anemia, Thrombocytopenia, Neutropenia, Anemia OMIM:277380
Bone Marrow Failure Syndrome 3
Aplastic anemia, Increased mean corpuscular volume, Persistence of hemoglobin F, Pancytopenia, Ac... OMIM:617052
Hermansky-Pudlak Syndrome 2
Reduced natural killer cell count, Enlarged platelet dense granules, Hepatosplenomegaly, Decrease... OMIM:608233
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency
Antineutrophil antibody positivity, Hepatitis, Autoimmunity, Anti-smooth muscle antibody positivi... ORPHA:228426
Methylmalonic Aciduria, Cbla Type
Anemia, Pancytopenia, Thrombocytopenia, Neutropenia OMIM:251100
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Lymphopenia, Hepatosplenomegaly, Leukopenia, Splenomegaly, Erythroid hypoplasia, Hypoplasia of th... OMIM:612541
Xq28 (MECP2) duplication
Decreased circulating IgA level DECIPHER:45
Immunodeficiency 58
Allergic rhinitis, Recurrent pneumonia, Bronchiectasis, Eczematoid dermatitis, Cutaneous abscess,... OMIM:618131
Shwachman-Diamond Syndrome 1
Persistence of hemoglobin F, Pancytopenia, Acute myeloid leukemia, Neutropenia, Thrombocytopenia,... OMIM:260400
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Pneumonia, Decreased circulating IgA level, Sinusitis, Increased circulating IgM level, Bronchiec... OMIM:242860
Diamond-Blackfan Anemia 7
Macrocytic anemia, Increased mean corpuscular volume, Neutropenia OMIM:612562
Purine Nucleoside Phosphorylase Deficiency
Pneumonia, Decreased lymphocyte proliferation in response to mitogen, Impaired T cell function, A... OMIM:613179
Fanconi Anemia, Complementation Group A
Pancytopenia, Anemia, Reticulocytopenia, Neutropenia, Thrombocytopenia, Leukemia OMIM:227650
Necrotizing Enterocolitis
Thrombocytopenia, Leukocytosis, Neutropenia ORPHA:391673
Alopecia Totalis
Inflammation of the large intestine, Autoimmunity ORPHA:700
Kasabach-Merritt Phenomenon
Microangiopathic hemolytic anemia, Leukopenia, Reticulocytosis, Neutropenia, Thrombocytopenia, An... ORPHA:2330
3-Methylglutaconic Aciduria, Type Viib
Leukopenia, Thrombocytopenia, Neutropenia OMIM:616271
Fanconi Anemia, Complementation Group I
Neutropenia OMIM:609053
Pemphigus Vulgaris
Autoimmunity, Anti-desmoglein-3 antibody positivity, Recurrent cutaneous abscess formation, Anti-... ORPHA:704
Deafness-Lymphedema-Leukemia Syndrome
Acute leukemia, Leukocytosis, Splenomegaly, Thrombocytopenia, Abnormal neutrophil count, Myelopro... ORPHA:3226
Poikiloderma With Neutropenia
Leukopenia, Splenomegaly, Neutropenia OMIM:604173
Wolcott-Rallison Syndrome
Lymphocytosis, Iron deficiency anemia, Neutropenia ORPHA:1667
Agammaglobulinemia 1, Autosomal Recessive
Rectal abscess, Neutropenia, B lymphocytopenia OMIM:601495
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Pneumonia, Cutaneous anergy, Decreased lymphocyte proliferation in response to anti-CD3, Panhypog... OMIM:600802
T-Cell Immunodeficiency With Thymic Aplasia
Pneumonia, Decreased lymphocyte proliferation in response to mitogen, Eczematoid dermatitis, Auto... ORPHA:83471
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Psoriasiform dermatitis, Interface hepatitis, Autoimmune hemolytic anemia, Autoimmunity, Agammagl... OMIM:243150
Anti-Glomerular Basement Membrane Disease
Autoimmunity, Arthritis ORPHA:375
Chédiak-Higashi Syndrome
Abnormality of neutrophil physiology, Hemophagocytosis, Abnormal natural killer cell morphology, ... ORPHA:167
Type 1 Diabetes Mellitus
Autoimmunity OMIM:222100
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Decreased circulating IgA level OMIM:215250
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy
Microcytic anemia, Neutropenia OMIM:251900
Sepsis In Premature Infants
Leukocytosis, Splenomegaly, Thrombocytopenia, Neutropenia, Anemia ORPHA:90051
Alopecia Universalis
Atopic dermatitis, Psoriasiform dermatitis, Autoimmunity ORPHA:701
Fanconi Anemia, Complementation Group C
Pancytopenia, Anemia, Reticulocytopenia, Neutropenia, Thrombocytopenia, Leukemia OMIM:227645
Hermansky-Pudlak Syndrome 10
Splenomegaly, Neutropenia OMIM:617050
Methylmalonic Acidemia With Homocystinuria Type Cblf
Megaloblastic anemia, Neutropenia ORPHA:79284
Lead Poisoning
Increased circulating IgE level, Abnormality of humoral immunity, Skin rash, Tubulointerstitial n... ORPHA:330015
Pearson Marrow-Pancreas Syndrome
Sideroblastic anemia, Pancytopenia, Refractory sideroblastic anemia, Reticulocytopenia, Neutropen... OMIM:557000
Wiskott-Aldrich Syndrome
Abnormal eosinophil morphology, Acute leukemia, Microcytic anemia, Lymphopenia, Chronic leukemia,... ORPHA:906
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)
Neutropenia OMIM:615471
Saul-Wilson Syndrome
Neutropenia OMIM:618150
Gamma-Heavy Chain Disease
Rheumatoid arthritis, Autoimmunity, Skin rash, Autoimmune hemolytic anemia, Autoimmune thrombocyt... ORPHA:100026
T-Cell Immunodeficiency With Thymic Aplasia
Recurrent pneumonia, Eczematoid dermatitis, Pyoderma, Reduced delayed hypersensitivity, Bronchiec... OMIM:242700
Psoriasis-Related Juvenile Idiopathic Arthritis
Uveitis, Abnormality of tumor necrosis factor secretion, Sacroiliac arthritis, Psoriasiform derma... ORPHA:85436
Autoinflammatory Disease, Systemic, With Vasculitis
Atopic dermatitis, Increased circulating interleukin 6 concentration, Parotitis, Decreased circul... OMIM:620376
Shwachman-Diamond Syndrome 2
Normocytic anemia, Thrombocytopenia, Neutropenia OMIM:617941
Hypocomplementemic Urticarial Vasculitis
Reduced circulating complement concentration, Autoimmunity, Episcleritis, Skin rash, Arthritis, I... ORPHA:36412
Spondyloenchondrodysplasia
Pneumonia, Hepatitis, Systemic lupus erythematosus, Anti-dsDNA antibody positivity, Autoimmunity,... ORPHA:1855
Spondyloenchondrodysplasia With Immune Dysregulation
Lymphopenia, Autoimmune thrombocytopenia, Neutropenia, T lymphocytopenia OMIM:607944
Diamond-Blackfan Anemia
Macrocytic dyserythropoietic anemia, Increased mean corpuscular volume, Persistence of hemoglobin... ORPHA:124
Fusariosis
Granuloma, Brain abscess, Abnormality of the spleen, Lymphopenia, Lung abscess, Neutropenia ORPHA:228119
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Chronic myelomonocytic leukemia, Leukocytosis, Splenomegaly, Chronic lymphatic... ORPHA:98849
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Decreased circulating IgG level, Recurrent pneumonia, Decreased lymphocyte proliferation in respo... ORPHA:508533
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Decreased lymphocyte proliferation in response to mitogen, Decreased circulating total IgG, Decre... ORPHA:221139
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Hashimoto thyroiditis, Decreased circulating IgA level, Autoimmunity, Hepatitis OMIM:613385
Igg4-Related Ophthalmic Disease
Keratitis, Increased circulating IgE level, Increased circulating IgG4 level, Orchitis, Antinucle... ORPHA:449563
Primary Intestinal Lymphangiectasia
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... ORPHA:90362
Microscopic Polyangiitis
Uveitis, Autoimmunity, Episcleritis, Skin rash, Increased inflammatory response, Peritonitis, Pan... ORPHA:727
Leigh Syndrome
Anemia, Neutropenia ORPHA:506
Limited Cutaneous Systemic Sclerosis
Autoimmunity ORPHA:220402
Vici Syndrome
Lymphopenia, Leukopenia, Decreased proportion of CD4-positive helper T cells, Neutropenia, T lymp... OMIM:242840
Congenital Disorder Of Glycosylation With Defective Fucosylation 1
Neutropenia OMIM:618005
Autoimmune Hemolytic Anemia, Warm Type
Autoimmunity, Autoimmune hemolytic anemia, Systemic lupus erythematosus ORPHA:90033
Fanconi Anemia, Complementation Group D2
Pancytopenia, Anemia, Reticulocytopenia, Neutropenia, Thrombocytopenia, Leukemia OMIM:227646
New-Onset Refractory Status Epilepticus
Abnormal circulating interleukin concentration, Autoimmunity, Infectious encephalitis ORPHA:363558
Cohen Syndrome
Neutropenia ORPHA:193
Relapsing Fever
Leukopenia, Leukocytosis, Thrombocytopenia, Neutrophilia, Anemia ORPHA:91547
Revesz Syndrome
Macrocytic anemia, Aplastic anemia, Neutropenia OMIM:268130
Livedoid Vasculopathy
Abnormality of complement system, Systemic lupus erythematosus, Autoimmunity, Superficial dermal ... ORPHA:542643
Whim Syndrome
Abnormal neutrophil morphology, Lymphopenia, Neutropenia ORPHA:51636
Autoimmune Hypoparathyroidism
Conjunctivitis, Autoimmunity, Autoimmune antibody positivity, Chronic mucocutaneous candidiasis ORPHA:36913
Trichothiodystrophy
Anemia, Increased mean corpuscular hemoglobin concentration, Neutropenia ORPHA:33364
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Anemia, Brain abscess, Liver abscess, Neutrophilia ORPHA:54251
Igg4-Related Dacryoadenitis And Sialadenitis
Increased circulating IgG4 level, Autoimmunity, Cytoplasmic antineutrophil antibody positivity, M... ORPHA:79078
Encephalitis Lethargica
Autoimmunity, Increased circulating antibody level ORPHA:83600
Overlap Myositis
Rheumatoid arthritis, Systemic lupus erythematosus, Autoimmunity, Antinuclear antibody positivity... ORPHA:206572
Nodular Non-Suppurative Panniculitis
Inflammatory abnormality of the eye, Panniculitis, Autoimmunity ORPHA:33577
Congenital Disorder Of Glycosylation, Type Ig
Decreased circulating total IgM, Decreased circulating IgG level, Recurrent pneumonia, Decreased ... OMIM:607143
Dyskeratosis Congenita, Digenic
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level OMIM:620040
Dermatitis Herpetiformis
Autoimmunity, Eczematoid dermatitis ORPHA:1656
Khan-Khan-Katsanis Syndrome
Anemia, Lymphopenia, Neutropenia OMIM:618460
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Thrombocytopenia, Megaloblastic anemia, Neutropenia OMIM:277400
Lymphoid Interstitial Pneumonia
Rheumatoid arthritis, Eczematoid dermatitis, Autoimmunity, Skin rash, Keratoconjunctivitis sicca,... ORPHA:79128
Antisynthetase Syndrome
Autoimmunity, Skin rash, Myositis, Keratoconjunctivitis sicca, Arthritis, Myocarditis ORPHA:81
Insulin-Resistance Syndrome Type B
Pneumonia, Nephritis, Decreased circulating complement factor B concentration, Systemic lupus ery... ORPHA:2298
Purine Nucleoside Phosphorylase Deficiency
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Autoimmunity, Systemic lupus erythematosus ORPHA:760
Secondary Intestinal Lymphangiectasia
Decreased circulating IgG1 level, Decreased circulating IgA level, Autoimmunity, Constrictive per... ORPHA:90363
Pemphigus Foliaceus
Psoriasiform dermatitis, Autoimmunity, Crusting erythematous dermatitis, Pustule, Erythroderma ORPHA:79481
Trisomy X
Autoimmunity ORPHA:3375
Diamond-Blackfan Anemia 1
Increased mean corpuscular volume, Persistence of hemoglobin F, Elevated red cell adenosine deami... OMIM:105650
Toxic Epidermal Necrolysis
Anemia, Thrombocytopenia, Neutropenia ORPHA:537
Congenital Disorder Of Glycosylation, Type Iib
Decreased circulating IgA level, Decreased circulating antibody level OMIM:606056
Smith-Kingsmore Syndrome
Decreased circulating IgA level OMIM:616638
Cartilage-Hair Hypoplasia
Anemia, Neutropenia ORPHA:175
Adiposis Dolorosa
Recurrent skin infections, Autoimmunity, Arthritis ORPHA:36397
Myotonic Dystrophy 2
Decreased circulating total IgM, Decreased circulating IgG level OMIM:602668
Riddle Syndrome
Pneumonia, Decreased circulating IgG level, Recurrent pneumonia, Decreased circulating IgA level,... ORPHA:420741
Omenn Syndrome
Pneumonia, Autoimmunity, Erythroderma, Thyroiditis ORPHA:39041
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Panniculitis, Autoimmunity OMIM:618398
Angioedema, Hereditary, 1
Decreased circulating complement C4 concentration, Autoimmunity, Decreased circulating C1-esteras... OMIM:106100
Pituitary Deficiency Due To Empty Sella Turcica Syndrome
Autoimmunity ORPHA:91354
Mogs-Cdg
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... ORPHA:79330
Rothmund-Thomson Syndrome
Leukemia, Anemia, Aplastic anemia, Neutropenia ORPHA:2909
Glycogen Storage Disease Ib
Splenomegaly, Neutropenia OMIM:232220
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Thrombocytopenia, Megaloblastic anemia, Neutropenia ORPHA:79282
Trichinellosis
Increased circulating IgE level, Conjunctivitis, Skin rash ORPHA:863
Psoriasis 14, Pustular
Leukocytosis, Neutrophilia OMIM:614204
Primary Biliary Cholangitis
Hepatitis, Autoimmunity, Antinuclear antibody positivity, Increased circulating IgA level, Gastro... ORPHA:186
Eosinophilic Granulomatosis With Polyangiitis
Autoimmunity, Skin rash, Increased inflammatory response, Myositis, Myocarditis, Arthritis, Sinus... ORPHA:183
Intellectual Developmental Disorder, Autosomal Dominant 54
Neutropenia OMIM:617799
Pediatric-Onset Graves Disease
Thrombocytopenia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies ORPHA:525731
Isolated Osteopoikilosis
Discoid lupus rash, Autoimmunity ORPHA:166119
Rothmund-Thomson Syndrome Type 1
Leukemia, Anemia, Aplastic anemia, Neutropenia ORPHA:221008
X-Linked Intellectual Disability, Nascimento Type
Recurrent cutaneous abscess formation, Neutropenia ORPHA:163956
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Decreased circulating IgA level ORPHA:457485
Osteopetrosis, Autosomal Recessive 7
Decreased circulating total IgM, Decreased circulating IgG level, Recurrent pneumonia, Decreased ... OMIM:612301
Mixed Connective Tissue Disease
Autoimmunity, Skin rash, Myositis, Gastritis, Keratoconjunctivitis sicca, Arthritis, Myocarditis,... ORPHA:809
Rothmund-Thomson Syndrome Type 2
Leukemia, Anemia, Aplastic anemia, Neutropenia ORPHA:221016
Hermansky-Pudlak Syndrome
Neutropenia ORPHA:79430
Pearson Syndrome
Pancytopenia, Reticulocytosis, Splenomegaly, Neutropenia, Thrombocytopenia, Anemia, Hypoplastic s... ORPHA:699
Bloom Syndrome
Pneumonia, Decreased circulating IgG level, Decreased circulating IgA level, Decreased circulatin... ORPHA:125
Autoimmune Polyendocrinopathy Type 1
Autoimmunity, Chronic mucocutaneous candidiasis ORPHA:3453
Immunodeficiency 47
Decreased circulating total IgG, Chronic decreased circulating total IgG, Decreased circulating t... OMIM:300972
Immunodeficiency 82 With Systemic Inflammation
Pneumonia, Decreased lymphocyte proliferation in response to mitogen, Decreased circulating total... OMIM:619381
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Neutropenia OMIM:271510
Cold Agglutinin Disease
Autoimmunity ORPHA:56425
Celiac Disease, Susceptibility To, 1
Eczematoid dermatitis, Recurrent aphthous stomatitis, Decreased circulating IgA level, Stomatitis... OMIM:212750
Monosomy 18P
Autoimmunity ORPHA:1598
Kikuchi-Fujimoto Disease
Leukopenia, Splenomegaly, Lymphocytosis, Neutropenia, Thrombocytopenia, Anemia ORPHA:50918
Combined Immunodeficiency Due To Crac Channel Dysfunction
Pneumonia, Autoimmunity, Chronic otitis media ORPHA:169090
Bloom Syndrome
Decreased circulating IgG level, Decreased circulating IgA level, Malar rash, Decreased circulati... OMIM:210900
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Increased proportion of CD4-positive T cells, Leukocytosis, Neutrophilia OMIM:617099
Localized Scleroderma
Fasciitis, Esophagitis, Autoimmunity, Hashimoto thyroiditis, Arthritis, Uveitis ORPHA:90289
Zygomycosis
Brain abscess, Splenic abscess, Neutropenia ORPHA:73263
Ataxia-Telangiectasia
Decreased circulating IgG level, Defective B cell differentiation, Decreased circulating IgA leve... OMIM:208900
Orotic Aciduria
Impaired T cell function OMIM:258900
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections
Recurrent pneumonia, Eczematoid dermatitis, Cutaneous abscess, Chronic mucocutaneous candidiasis,... OMIM:147060
Polymyositis
Autoimmunity, Arthritis, Pericarditis ORPHA:732
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Anemia, Abnormal myeloid leukocyte morphology, Chronic neutropenia ORPHA:79259
Hereditary Orotic Aciduria
Impaired T cell function ORPHA:30
Preeclampsia
Autoimmunity ORPHA:275555
Acquired Generalized Lipodystrophy
Abnormality of complement system, Panniculitis, Acute pancreatitis, Autoimmunity ORPHA:79086
Interstitial Cystitis
Autoimmunity, Abnormality of tumor necrosis factor secretion, Urinary bladder inflammation ORPHA:37202
Pneumocystosis
Abnormal neutrophil count ORPHA:723
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Transient neutropenia, Chronic neutropenia ORPHA:500095
Peripartum Cardiomyopathy
Myocarditis, Autoimmunity, Increased circulating interferon-gamma concentration ORPHA:563
Congenital Disorder Of Glycosylation, Type Ia
Decreased circulating IgG level, Decreased circulating IgA level, Pericarditis OMIM:212065
Spondyloepimetaphyseal Dysplasia, Krakow Type
Allergic rhinitis, Eczematoid dermatitis, Decreased circulating total IgM OMIM:618162
Lipodystrophy, Congenital Generalized, Type 4
Recurrent pneumonia, Decreased circulating IgA level OMIM:613327
Diffuse Cutaneous Systemic Sclerosis
Autoimmunity, Arthritis ORPHA:220393
Glycogen Storage Disease Ic
Cyclic neutropenia OMIM:232240
Stiff-Person Syndrome
Autoimmunity OMIM:184850
3-Methylglutaconic Aciduria, Type Viii
Neutropenia OMIM:617248
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Lymphopenia, Hepatosplenomegaly, Autoimmune hemolytic anemia, B lymphocytopenia, Neutropenia in p... ORPHA:391487
Thauvin-Robinet-Faivre Syndrome
Transient neutropenia OMIM:617107
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Recurrent otitis media, Autoimmunity ORPHA:449291
Ehlers-Danlos Syndrome, Periodontal Type, 1
Autoimmunity, Periodontitis OMIM:130080
Dermatomyositis
Anti-Mi2 antibody positivity, Heliotrope rash, Anti-transcription intermediary factor-1gamma anti... ORPHA:221
Okur-Chung Neurodevelopmental Syndrome
Decreased circulating IgG level, Decreased circulating IgA level, Decreased circulating antibody ... OMIM:617062
Extracranial Carotid Artery Aneurysm
Arteritis, Autoimmunity ORPHA:494424
Cryptococcosis
Pneumonia, Systemic lupus erythematosus, Osteomyelitis, Autoimmunity, Peritonitis, Prostatitis ORPHA:1546
Myasthenia Gravis
Autoimmunity OMIM:254200
Primary Sclerosing Cholangitis
Hepatitis, Autoimmunity, Pancreatitis, Polyclonal elevation of IgM, Ulcerative colitis, Thyroidit... ORPHA:171
Dubowitz Syndrome
Decreased circulating IgG level, Decreased circulating IgA level, Eczematoid dermatitis, Otitis m... OMIM:223370
Monosomy 18Q
Decreased circulating IgA level ORPHA:1600
Sarcoidosis, Susceptibility To, 1
Inflammation of the large intestine, Abnormality of T cell physiology, Increased circulating anti... OMIM:181000
Simpson-Golabi-Behmel Syndrome
Increased circulating IgE level ORPHA:373
Late-Onset Isolated Acth Deficiency
Hashimoto thyroiditis, Autoimmunity, Hepatitis ORPHA:199299
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Decreased circulating total IgM, Decreased circulating IgA level ORPHA:369837
Juvenile Dermatomyositis
Autoimmunity, Skin rash, Myositis, Arthritis, Pericarditis ORPHA:93672
Combined Immunodeficiency-Enteropathy Spectrum
Hepatitis, Psoriasiform dermatitis, Autoimmunity, Autoimmune hemolytic anemia, Hashimoto thyroiditis ORPHA:436252
Granulomatosis With Polyangiitis
Autoimmunity, Otitis media, Skin rash, Increased inflammatory response, Prostatitis, Pancreatitis... ORPHA:900
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level OMIM:620005
Chronic Thromboembolic Pulmonary Hypertension
Inflammation of the large intestine, Osteomyelitis, Autoimmunity, Lupus anticoagulant, Antiphosph... ORPHA:70591
Glossopharyngeal Neuralgia
Autoimmunity ORPHA:221098
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Anemia, Neutropenia ORPHA:95455
Sponastrime Dysplasia
Neutropenia ORPHA:93357
Aspartylglucosaminuria
Vacuolated lymphocytes, Neutropenia OMIM:208400
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Psoriasiform dermatitis, Abnormality of T cell physiology ORPHA:2237
Viss Syndrome
Atopic dermatitis, Eczematoid dermatitis, Increased circulating IgE level, Chronic gastritis, Dec... OMIM:619472
Aicardi-Goutières Syndrome
Increased circulating interferon-gamma concentration, Autoimmunity, Chilblains, Myositis, Arthrit... ORPHA:51
22Q11.2 Deletion Syndrome
Impaired T cell function, Autoimmunity, Seborrheic dermatitis, Arthritis, Acne, Chronic otitis media ORPHA:567
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Decreased circulating total IgM, Seborrheic dermatitis, Eczematoid dermatitis, Superficial dermal... ORPHA:83617
Loeys-Dietz Syndrome 6
Knee osteoarthritis, Hip osteoarthritis, Autoimmunity, Osteoarthritis OMIM:619656
Familial Hypocalciuric Hypercalcemia
Autoimmunity, Pancreatitis ORPHA:405
Acute Adrenal Insufficiency
Autoimmunity ORPHA:95409
Addison Disease
Hashimoto thyroiditis, Autoimmunity ORPHA:85138
Acute Transverse Myelitis
Autoimmunity, Systemic lupus erythematosus ORPHA:139417
Turner Syndrome Due To Structural X Chromosome Anomalies
Inflammation of the large intestine, Recurrent otitis media, Autoimmunity, Hashimoto thyroiditis,... ORPHA:99413
Turner Syndrome
Inflammation of the large intestine, Recurrent otitis media, Autoimmunity, Hashimoto thyroiditis,... ORPHA:881
Mosaic Monosomy X
Inflammation of the large intestine, Recurrent otitis media, Autoimmunity, Hashimoto thyroiditis,... ORPHA:99228
Monosomy X
Inflammation of the large intestine, Recurrent otitis media, Autoimmunity, Hashimoto thyroiditis,... ORPHA:99226
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

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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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