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Gene: Eps15 MGI:104583

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Gene Summary

Name:
epidermal growth factor receptor pathway substrate 15
Synonyms:
2410112D09Rik

Order Alleles

IMPC Data Collections

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 mean corpuscular volume Eps15tm1a(KOMP)Wtsi HOM Early adult 2.66×10-10
decreased hemoglobin content Eps15tm1a(KOMP)Wtsi HOM Early adult 2.24×10-05
decreased mean corpuscular hemoglobin Eps15tm1a(KOMP)Wtsi HOM Early adult 8.55×10-17

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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 homozygote 100% (2 of 2)
Aorta N/A homozygote Not available
Blood vessel N/A homozygote 100% (2 of 2)
Bone N/A homozygote 0.0% (0 of 2)
Brain N/A homozygote 100% (2 of 2)
Brainstem N/A homozygote Not available
Brown adipose tissue N/A homozygote 0.0% (0 of 2)
Cartilage tissue N/A homozygote 100% (2 of 2)
Cerebellum N/A homozygote Not available
Cerebral cortex N/A homozygote Not available
Eye N/A homozygote 100% (2 of 2)
Gall bladder N/A homozygote 100% (2 of 2)
Heart N/A homozygote 100% (2 of 2)
Hippocampus N/A homozygote Not available
Hypothalamus N/A homozygote Not available
Kidney N/A homozygote 100% (2 of 2)
Large intestine N/A homozygote 100% (2 of 2)
Liver N/A homozygote 0.0% (0 of 2)
Lower urinary tract N/A homozygote 100% (2 of 2)
Lung N/A homozygote 100% (2 of 2)
Lymph node N/A homozygote 100% (2 of 2)
Mammary gland N/A homozygote 0.0% (0 of 2)
Esophagus N/A homozygote 100% (2 of 2)
Olfactory lobe N/A homozygote Not available
Ovary N/A homozygote 50% (1 of 2)
Oviduct N/A homozygote 50% (1 of 2)
Pancreas N/A homozygote 100% (2 of 2)
Parathyroid gland N/A homozygote 50% (1 of 2)
Peripheral nervous system N/A homozygote 100% (2 of 2)
Peyer's patch N/A homozygote 50% (1 of 2)
Pituitary gland N/A homozygote 100% (2 of 2)
Prostate gland N/A homozygote 50% (1 of 2)
Skeletal muscle tissue N/A homozygote 0.0% (0 of 2)
Skin N/A homozygote 100% (2 of 2)
Small intestine N/A homozygote 100% (2 of 2)
Spinal cord N/A homozygote 100% (2 of 2)
Spleen N/A homozygote 50% (1 of 2)
Stomach N/A homozygote 100% (2 of 2)
Striatum N/A homozygote Not available
Testis N/A homozygote 50% (1 of 2)
Thymus N/A homozygote 100% (2 of 2)
Thyroid gland N/A homozygote 50% (1 of 2)
Trachea N/A homozygote 100% (2 of 2)
Uterus N/A homozygote 50% (1 of 2)
White adipose tissue N/A homozygote 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 0.68% (4 of 585)
aorta 0.17% (1 of 585)
blood vessel 0.0%
bone 0.0%
brain 0.68% (4 of 585)
brainstem 0.34% (2 of 585)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 585)
cerebellum 0.51% (3 of 585)
cerebral cortex 0.34% (2 of 585)
eye 0.0%
gall bladder 0.0%
heart 0.34% (2 of 585)
hippocampus 0.51% (3 of 585)
hypothalamus 0.34% (2 of 585)
kidney 3.59% (21 of 585)
large intestine 1.71% (10 of 585)
liver 0.0%
lower urinary tract 0.17% (1 of 585)
lung 0.34% (2 of 585)
lymph node 0.17% (1 of 585)
mammary gland 0.0%
oesophagus 0.0%
olfactory lobe 0.34% (2 of 585)
ovary 0.17% (1 of 585)
oviduct 0.0%
pancreas 0.85% (5 of 585)
parathyroid gland 0.18% (1 of 563)
peripheral nervous system 0.34% (2 of 585)
peyer's patch 0.57% (1 of 176)
pituitary gland 0.17% (1 of 585)
prostate gland 2.05% (12 of 585)
skeletal muscle tissue 0.0%
skin 0.17% (1 of 585)
small intestine 1.54% (9 of 585)
spinal cord 0.51% (3 of 585)
spleen 0.51% (3 of 585)
stomach 2.22% (13 of 585)
striatum 0.51% (3 of 585)
testis 1.03% (6 of 585)
thymus 0.17% (1 of 585)
thyroid gland 2.91% (17 of 585)
trachea 0.51% (3 of 585)
uterus 0.0%
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.

Histopathology

Images

1 Images

View images
Legacy Phenotype Associated Images
Eps15tm1a(KOMP)Wtsi
head, HOM, Male, WTSI
Eps15tm1a(KOMP)Wtsi
body, HOM, Male, WTSI
Eps15tm1a(KOMP)Wtsi
head, HOM, Male, WTSI
Eps15tm1a(KOMP)Wtsi
body, HOM, Male, WTSI
Eps15tm1a(KOMP)Wtsi
forearm, HOM, Male, WTSI

View all 68 images

Eps15tm1a(KOMP)Wtsi
back skin, HOM, Female, WTSI
Eps15tm1a(KOMP)Wtsi
back skin, HOM, Female, WTSI
Eps15tm1a(KOMP)Wtsi
back skin, HOM, Female, WTSI

Human diseases caused by Eps15 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.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Eps15 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Methemoglobin Reductase Deficiency
Abnormal erythrocyte morphology OMIM:250700
Atr-16 syndrome
Abnormal erythrocyte morphology DECIPHER:65
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Hemoglobin E-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin ORPHA:231249
Diamond-Blackfan Anemia-Like
Steroid-responsive anemia, Pure red cell aplasia OMIM:617911
Acetophenetidin Sensitivity
Methemoglobinemia, Hemolytic anemia OMIM:200300
Diamond-Blackfan Anemia 19
Anemia, Steroid-responsive anemia, Erythroid hypoplasia OMIM:618312
Hemoglobin D Disease
Reduced alpha/beta synthesis ratio, Imbalanced hemoglobin synthesis, Sickled erythrocytes, Anemia... ORPHA:90039
Cephalin Lipidosis
Abnormality of the spleen OMIM:212800
Immunodeficiency 40
Lymphopenia OMIM:616433
Acne Inversa, Familial, 3
Perifolliculitis, Acne inversa, Chronic furunculosis, Recurrent cutaneous abscess formation OMIM:613737
Delta-Beta-Thalassemia
Microcytic anemia, Anemia, Abnormal hemoglobin ORPHA:231237
Transient Erythroblastopenia Of Childhood
Transient erythroblastopenia, Anemia OMIM:227050
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Hemoglobin C-Beta-Thalassemia Syndrome
Microcytic anemia, Anemia, Abnormal hemoglobin, Splenomegaly ORPHA:231242
Tuftsin Deficiency
Abnormality of the spleen OMIM:191150
Immunodeficiency 8
Lymphopenia OMIM:615401
Benign Cephalic Histiocytosis
Inflammatory abnormality of the skin, Skin rash, Histiocytosis ORPHA:157997
Hemoglobin H Disease
Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin, Splenomegaly OMIM:613978
Anemia, Sideroblastic, 4
Abnormal erythrocyte morphology, Sideroblastic anemia OMIM:182170
Beta-Thalassemia, Dominant Inclusion Body Type
Splenomegaly, Persistence of hemoglobin F, Microcytic anemia, Erythrocyte inclusion bodies, Decre... OMIM:603902
Immunodeficiency 18
Decreased proportion of CD3-positive T cells, Lymphopenia OMIM:615615
Alpha-Thalassemia Myelodysplasia Syndrome
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia OMIM:300448
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Thrombocytopenia, Anemia, Abnormal hemoglobin, Splenomegaly ORPHA:231393
Tn Polyagglutination Syndrome
Abnormal erythrocyte morphology OMIM:300622
Diamond-Blackfan Anemia 13
Elevated red cell adenosine deaminase level, Normocytic anemia OMIM:615909
Diamond-Blackfan Anemia 17
Anemia OMIM:617409
Immunodeficiency 84
B lymphocytopenia, Perianal abscess, Splenomegaly OMIM:619437
Immunodeficiency 51
Eczema, Folliculitis, Pustule, Chronic furunculosis, Pneumonia, Chronic oral candidiasis, Recurre... OMIM:613953
Beta-Thalassemia
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Alpha-Thalassemia
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:604131
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Anemia, Splenomegaly ORPHA:46532
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia OMIM:252270
Immunodeficiency 19
Lymphopenia OMIM:615617
Diamond-Blackfan Anemia 3
Macrocytic anemia, Reticulocytopenia, Increased mean corpuscular volume, Persistence of hemoglobin F OMIM:610629
Heinz Body Anemias
Heinz bodies, Heinz body anemia, Nonspherocytic hemolytic anemia OMIM:140700
Acne Inversa, Familial, 1
Acne inversa OMIM:142690
Combined Cellular And Humoral Immune Defects With Granulomas
B lymphocytopenia, T lymphocytopenia OMIM:233650
Hemoglobin E Disease
Hypochromia, Hypochromic microcytic anemia, Increased red blood cell count, Abnormal hemoglobin, ... ORPHA:2133
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Pancytopenia, Hypersplenism, Decreased helper T cell proportion, Splenomegaly OMIM:183350
Diamond-Blackfan Anemia 18
Steroid-responsive anemia, Neutropenia, Erythroid hypoplasia OMIM:618310
Immunodeficiency 76
B lymphocytopenia, Lymphadenopathy, Splenomegaly, Lymphopenia, T lymphocytopenia OMIM:619164
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Hypoplasia of the thymus, Lymphopenia OMIM:200900
Cyanosis, Transient Neonatal
Reticulocytosis, Methemoglobinemia, Anemia OMIM:613977
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Decreased mean corpuscular volume, Hypochromia, Anemia OMIM:205950
Myelolymphatic Insufficiency
Hyposegmentation of neutrophil nuclei, Leukopenia OMIM:310350
Anemia, Hypochromic Microcytic, With Iron Overload 1
Decreased mean corpuscular volume, Hypochromia, Anemia OMIM:206100
Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive
Hypochromia, Sideroblastic anemia, Hepatosplenomegaly, Decreased mean corpuscular volume, Pyridox... OMIM:206000
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Abnormally low T cell receptor excision circle level, B lymphocytopenia, Cervical lymphadenopathy OMIM:618987
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
T lymphocytopenia ORPHA:169095
Reticular Dysgenesis
Hypoplasia of the thymus, Lymphopenia, Congenital agranulocytosis, Leukopenia OMIM:267500
Neutropenia, Severe Congenital, 2, Autosomal Dominant
B lymphocytopenia, Neutropenia, Monocytosis OMIM:613107
Immunodeficiency 24
Decreased CD4:CD8 ratio, Reduced proportion of mucosal-associated invariant T cells, Lymphopenia,... OMIM:615897
Bullous Diffuse Cutaneous Mastocytosis
Pruritus, Cutaneous mastocytosis, Erythroderma ORPHA:280785
Congenital Amegakaryocytic Thrombocytopenia
Thrombocytopenia, Anemia, Abnormal hemoglobin ORPHA:3319
Lymphoid System Deterioration, Progressive
Abnormal T cell morphology, Lymphopenia OMIM:247630
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Lymphadenopathy, Hepatitis, Splenomegaly, Autoimmune thrombocytopenia, Lymphopenia, Hemolytic ane... ORPHA:444463
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Neutropenia, Increased mean corpuscular volume, Anemia, Acute myeloid leukemia, Pancytopenia, Thr... OMIM:619041
Immunodeficiency 50
Neutropenia, Lymphopenia OMIM:300988
Intrinsic Factor Deficiency
Megaloblastic anemia, Megaloblastic erythroid hyperplasia, Increased mean corpuscular volume OMIM:261000
Immunodeficiency 75
Lymphadenopathy, Hepatosplenomegaly, Decreased proportion of class-switched memory B cells, Folli... OMIM:619126
Woronets Trait
Red blood cell keratocytosis OMIM:194320
Immunodeficiency 15A
Recurrent otitis media, Acne inversa, Chronic mucocutaneous candidiasis, Decreased proportion of ... OMIM:618204
Dehydrated Hereditary Stomatocytosis 2
Anisopoikilocytosis, Increased mean corpuscular volume, Acanthocytosis, Splenomegaly, Increased m... OMIM:616689
Dissecting Cellulitis Of The Scalp
Pruritus, Recurrent skin infections ORPHA:345
Agammaglobulinemia 8, Autosomal Dominant
B lymphocytopenia OMIM:616941
Kerion Celsi
Inflammatory abnormality of the skin, Recurrent skin infections, Recurrent cutaneous abscess form... ORPHA:499
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Neutropenia, Leukopenia, Anemia, Splenomegaly, Extramedullary hematopoiesis, Thromb... OMIM:615285
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations
Neutropenia, Lymphopenia OMIM:614868
Familial Reactive Perforating Collagenosis
Inflammatory abnormality of the skin, Pruritus, Perifolliculitis, Maculopapular exanthema, Crusti... ORPHA:79147
Glutathione Peroxidase Deficiency
Heinz bodies, Compensated hemolytic anemia OMIM:614164
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Plasmacytosis, Lymphopenia, Autoimmune hemolytic anemia OMIM:247800
Adenosine Triphosphate, Elevated, Of Erythrocytes
Polycythemia, Reduced erythrocyte 2,3-diphosphoglycerate concentration OMIM:102900
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Anisocytosis, Poikilocytosis, Oval macrocytosis, Anemia of inadequate production OMIM:603529
Combined Immunodeficiency Due To Partial Rag1 Deficiency
B lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, Splenomegaly, T lymphocy... ORPHA:231154
Cernunnos-Xlf Deficiency
B lymphocytopenia, Anemia, Lymphopenia, Thrombocytopenia, T lymphocytopenia ORPHA:169079
B-Cell Expansion With Nfkb And T-Cell Anergy
Increased B cell count, Splenomegaly OMIM:616452
Alpha-Thalassemia
Anemia, Abnormal hemoglobin, Splenomegaly, Hypersplenism, Microcytic anemia, Hemolytic anemia ORPHA:846
Familial Pseudohyperkalemia
Stomatocytosis, Episodic hemolytic anemia, Reticulocytosis, Increased mean corpuscular volume ORPHA:90044
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
T lymphocytopenia OMIM:242870
Pancytopenia And Occlusive Vascular Disease
Pancytopenia, Thrombocytopenia, Anemia, Leukopenia OMIM:167850
Chronic Actinic Dermatitis
Late onset atopic dermatitis, Eczema, Allergic rhinitis, Erythroderma, Pruritus ORPHA:330064
Immunodeficiency 14A, Autosomal Dominant
Increased proportion of transitional B cells, Decreased proportion of class-switched memory B cel... OMIM:615513
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive
Lymphadenopathy, Hepatomegaly, T lymphocytopenia, Splenomegaly OMIM:608971
Immunodeficiency 52
Coombs-positive hemolytic anemia, Increased proportion of gamma-delta T cells, Lymphadenopathy, S... OMIM:617514
Anemia, Nonspherocytic Hemolytic, Associated With Abnormality Of Red Cell Membrane
Nonspherocytic hemolytic anemia OMIM:206300
Adenosine Triphosphatase Deficiency, Anemia Due To
Nonspherocytic hemolytic anemia OMIM:102800
Hemolytic Anemia With Thermal Sensitivity Of Red Cells
Congenital hemolytic anemia OMIM:235370
Hemoglobin--Variants For Which The Chain Carrying The Mutation Is Unknown Or Uncertain
Compensated hemolytic anemia OMIM:142309
Adenylate Kinase Deficiency, Hemolytic Anemia Due To
Hemolytic anemia OMIM:612631
6-Phosphogluconolactonase Deficiency
Hemolytic anemia OMIM:172150
Ceroid storage disease
Abnormality of the spleen OMIM:214200
Acute Erythroid Leukemia
Leukopenia, Anemia, Bone marrow hypocellularity, Erythroid hypoplasia, Pancytopenia ORPHA:318
Persistent Polyclonal B-Cell Lymphocytosis
Hepatomegaly, Lymphocytosis, Splenomegaly OMIM:606445
Alpha-Thalassemia-Myelodysplastic Syndrome
Neutropenia, Acute leukemia, Splenomegaly, Microcytic anemia, Thrombocytopenia, HbH hemoglobin ORPHA:231401
Diamond-Blackfan Anemia 8
Macrocytic anemia, Neutropenia, Increased mean corpuscular volume OMIM:612563
Immunodeficiency 17
Eczema, Recurrent otitis media, Decreased proportion of CD8-positive T cells, Autoimmune hemolyti... OMIM:615607
Immunodeficiency, Common Variable, 13
Pancytopenia, B lymphocytopenia, Acute lymphoblastic leukemia OMIM:616873
Bone Marrow Failure Syndrome 2
Bone marrow hypocellularity, Anemia, Thrombocytopenia, Leukopenia OMIM:615715
Ichthyosis, Congenital, Autosomal Recessive 5
Acanthocytosis, Erythroderma OMIM:604777
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, B lymphocytopenia, Neutropenia, Lymphadenopathy, Abscess, Splenomegaly, I... OMIM:150550
Immunodeficiency 11B With Atopic Dermatitis
Atopic dermatitis, Eosinophilia, Pneumonia OMIM:617638
Mu-Heavy Chain Disease
Hepatomegaly, Abnormal B cell count, Lymphadenopathy, Anemia, Splenomegaly ORPHA:100024
Paget Disease, Extramammary
Eczematoid dermatitis OMIM:167300
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Absent tonsils, B lymphocytopenia, Lymphopenia, T lymphocytopenia, Absence of lymph node germinal... ORPHA:277
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease
Perifolliculitis, Acne inversa, Chronic furunculosis, Recurrent cutaneous abscess formation OMIM:613736
Immunodeficiency 13
B lymphocytopenia, Decreased proportion of CD4-positive helper T cells, Lymphopenia, Decreased CD... OMIM:615518
Immunodeficiency 21
Abnormal natural killer cell morphology, Neutropenia, Lymphopenia, Myeloid leukemia, Monocytopeni... OMIM:614172
Pityriasis Rubra Pilaris
Pruritus, Eczema, Erythroderma, Pustule ORPHA:2897
Immunodeficiency 68
B lymphocytopenia, Lymphadenitis, Abscess, T lymphocytopenia, Abnormal natural killer cell count OMIM:612260
Ichthyosis, Congenital, Autosomal Recessive 10
Erythroderma OMIM:615024
Sickle Cell Anemia
Leukocytosis, Abnormality of the spleen, Thrombocytosis, Increased mean corpuscular volume, Iron ... ORPHA:232
Erythroderma, Lethal Congenital
Congenital exfoliative erythroderma OMIM:227090
Bone Marrow Failure Syndrome 6
Neutropenia, Increased mean corpuscular volume, Anemia, Persistence of hemoglobin F, Lymphopenia OMIM:618849
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
T lymphocytopenia DECIPHER:16
Omenn Syndrome
B lymphocytopenia, Hepatomegaly, Lymphadenopathy, Hypoplasia of the thymus, Anemia, Splenomegaly,... OMIM:603554
Majeed Syndrome
Inflammatory abnormality of the skin, Erythroid hyperplasia, Osteomyelitis, Hepatosplenomegaly, M... OMIM:609628
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
Atopic dermatitis, T lymphocytopenia, Pneumonia, Abnormally low T cell receptor excision circle l... OMIM:618806
Copper Deficiency, Familial Benign
Seborrheic dermatitis, Anemia OMIM:121270
Immunodeficiency 72 With Autoinflammation
Increased B cell count, Hepatosplenomegaly, Increased proportion of memory T cells, Lymphadenopathy OMIM:618982
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
T lymphocytopenia, Decreased helper T cell proportion OMIM:601705
Lymphoproliferative Syndrome 3
Lymphadenopathy, Reduced natural killer cell count, Hepatosplenomegaly OMIM:618261
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Eosinophilia, Lymphopenia ORPHA:2582
Oslam Syndrome
Abnormality of neutrophils, Increased mean corpuscular volume ORPHA:2760
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Eczema, Eosinophilia, Erythroderma, Neutropenia, Coombs-positive hemolytic anemia, Hepatitis, Ane... OMIM:304790
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial
Perifolliculitis OMIM:260910
Juvenile Arthritis
Thrombocytosis, Leukocytosis, Skin rash OMIM:618795
Immunodeficiency, Common Variable, 1
B lymphocytopenia, Hepatomegaly, Decreased proportion of class-switched memory B cells, Neutropen... OMIM:607594
Hemolytic Poikilocytic Anemia Due To Reduced Ankyrin Binding Sites
Poikilocytosis, Heinz body anemia, Nonspherocytic hemolytic anemia, Elliptocytosis OMIM:141700
Immunodeficiency 69
Thrombocytosis, Leukocytosis, Anemia, Splenomegaly, Hepatosplenomegaly, Skin rash, Pancytopenia OMIM:618963
Verrucous Hemangioma
Inflammatory abnormality of the skin ORPHA:464318
Seborrhea-Like Dermatitis With Psoriasiform Elements
Seborrheic dermatitis OMIM:610227
Ichthyosis, Congenital, Autosomal Recessive 7
Erythroderma OMIM:615022
Asplenia, Isolated Congenital
Thrombocytosis, Howell-Jolly bodies, Asplenia OMIM:271400
Dehydrated Hereditary Stomatocytosis
Congenital hemolytic anemia, Macrocytic anemia, Schistocytosis, Increased mean corpuscular volume... ORPHA:3202
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Erythroderma, Pneumonia, Chronic oral candidiasis, Hepatitis, Decreased proportion of CD3-positiv... ORPHA:169160
Wiskott-Aldrich Syndrome 2
Thrombocytopenia, Eczema, Decreased proportion of CD8-positive T cells OMIM:614493
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Cystic acne, Sterile arthritis, Thrombocytosis, Acne, Arthritis, Hepatosplenomegaly, Microcytic a... OMIM:604416
Iron-Refractory Iron Deficiency Anemia
Anisocytosis, Poikilocytosis, Hypochromic microcytic anemia OMIM:206200
Ichthyosis With Confetti
Erythroderma OMIM:609165
Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive
Atopic dermatitis, Eczema, Bronchiectasis, Pruritus, Recurrent otitis media, Chronic mucocutaneou... OMIM:618282
Anemia, Sideroblastic, 5
Reduced hematocrit, Neutropenia, Hypochromic microcytic anemia, Anemia, Thrombocytopenia OMIM:619523
Erythroderma Desquamativum
Seborrheic dermatitis ORPHA:314
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
B lymphocytopenia, Neutropenia, Leukopenia, Lymphadenitis, Abnormally low T cell receptor excisio... OMIM:618986
Erythrokeratodermia Variabilis Et Progressiva 1
Erythroderma OMIM:133200
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis
Hemolytic anemia, Elliptocytosis, Anemia of inadequate production OMIM:166910
Anemia, Sideroblastic, 1
Macrocytic anemia, Hypochromic microcytic anemia, Sideroblastic anemia, Anemia of inadequate prod... OMIM:300751
Epidermolytic Hyperkeratosis
Erythroderma OMIM:113800
Epidermodysplasia Verruciformis, Susceptibility To, 5
T lymphocytopenia, Lymphopenia OMIM:618309
Primary Familial Polycythemia
Polycythemia, Pruritus, Abnormal hemoglobin ORPHA:90042
Lymphoproliferative Syndrome, X-Linked, 2
Inflammation of the large intestine, Folliculitis, Hepatitis, Acne, Splenomegaly, Aplastic anemia... OMIM:300635
Proteasome-Associated Autoinflammatory Syndrome 5
Skin rash, Splenomegaly OMIM:619175
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Intestinal lymphangiectasia, Lymphopenia OMIM:207731
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
B lymphocytopenia, T lymphocytopenia OMIM:601457
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Hepatomegaly, Decreased proportion of class-switched memory B cells, Decreased proportion of marg... OMIM:619375
Erythema Nodosum, Familial
Erythema nodosum OMIM:132990
Spherocytosis, Type 3
Hemolytic anemia, Spherocytosis OMIM:270970
Immunodeficiency 64
Abnormal CD4:CD8 ratio, Mediastinal lymphadenopathy, Lymphadenopathy, Splenomegaly, Increased pro... OMIM:618534
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Leukopenia, Monocytosis, Refractory anemia, Bone marrow hypocellularity, Acute myeloid leukemia OMIM:616871
Omenn Syndrome
Leukocytosis, Erythroderma, Pneumonia, Pruritus, Abnormal lymphocyte morphology, Anemia, Splenome... ORPHA:39041
Letterer-Siwe Disease
Neutropenia, Stomatitis, Seborrheic dermatitis, Anemia, Hepatosplenomegaly, Thrombocytopenia OMIM:246400
Lymphangiectasia, Intestinal
Intestinal lymphangiectasia, Lymphopenia OMIM:152800
Immunodeficiency 25
Erythroderma, Recurrent pneumonia, Eosinophilia, T lymphocytopenia, Autoimmune hemolytic anemia OMIM:610163
Immunodeficiency 85 And Autoimmunity
Eczema, Erythroderma, Oligoarthritis, Reduced natural killer cell count, Decreased proportion of ... OMIM:619510
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
B lymphocytopenia, Impaired lymphocyte transformation with phytohemagglutinin, Hypoplasia of the ... OMIM:619313
Pyropoikilocytosis, Hereditary
Hemolytic anemia, Pyropoikilocytosis, Microspherocytosis, Elliptocytosis OMIM:266140
Macrocephaly/Autism Syndrome
Hepatomegaly, Lymphopenia, Splenomegaly OMIM:605309
Congenital Dyserythropoietic Anemia Type Iii
Increased mean corpuscular volume, Anemia, Anisocytosis, Poikilocytosis, Abnormal erythrocyte mor... ORPHA:98870
Epidermolysis Bullosa Simplex 7, With Nephropathy And Deafness
Reduced beta/alpha synthesis ratio, Nephritis OMIM:609057
Immunodeficiency 14B, Autosomal Recessive
Thrombocytosis, Leukocytosis, B lymphocytopenia, Monocytosis, Neutrophilia OMIM:619281
Transcobalamin Deficiency
Pancytopenia, Thrombocytopenia, Neutropenia, Lymphopenia ORPHA:859
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Psoriasiform dermatitis, Eczema, B lymphocytopenia, Erythroderma, T lymphocytopenia, Chronic oral... OMIM:606367
Chilblain Lupus
Inflammatory abnormality of the skin, Pruritis on hand, Discoid lupus rash, Chronic myelomonocyti... ORPHA:90280
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive
Atopic dermatitis, Decreased proportion of class-switched memory B cells, Recurrent otitis media,... OMIM:618944
Ovalocytosis, Southeast Asian
Hemolytic anemia, Elliptocytosis OMIM:166900
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Macrocytic anemia, Neutropenia, Abnormal reticulocyte morphology, Abnormal platelet morphology, A... OMIM:300835
Immunodeficiency, Common Variable, 12, With Autoimmunity
Bronchiectasis, Recurrent skin infections, Recurrent pneumonia, Thrombocytopenia, Recurrent sinus... OMIM:616576
Candidiasis, Familial, 8
Seborrheic dermatitis, Blepharitis OMIM:615527
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased B cell count, Hepatomegaly, Decreased proportion of class-switched memory B cells, Medi... OMIM:615559
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Polycythemia, Methemoglobinemia OMIM:250800
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Thrombocytosis, Eczema, Macrocytic anemia, Megaloblastic anemia, Septic arthritis, Recurrent pneu... OMIM:617780
Drug Reaction With Eosinophilia And Systemic Symptoms
Myocarditis, Infectious encephalitis, Erythroderma, Tubulointerstitial nephritis, Pustule, Inters... ORPHA:139402
Epidermodysplasia Verruciformis
Seborrheic dermatitis, Recurrent skin infections, Pustule ORPHA:302
Hb Bart'S Hydrops Fetalis
Anemia, Pericarditis, Abnormal hemoglobin, Splenomegaly ORPHA:163596
Cryohydrocytosis
Stomatocytosis, Hemolytic anemia, Reticulocytosis, Splenomegaly OMIM:185020
Immunodeficiency 57 With Autoinflammation
B lymphocytopenia, Reduced natural killer cell count, T lymphocytopenia, Perianal abscess OMIM:618108
Complement Component 5 Deficiency
Generalized seborrheic dermatitis OMIM:609536
Protoporphyria, Erythropoietic, 1
Pruritus, Eczema, Hemolytic anemia OMIM:177000
Erythrocytosis, Familial, 3
Increased hematocrit, Increased red blood cell mass, Increased hemoglobin OMIM:609820
Immunodeficiency 36
Chronic lymphatic leukemia, Lymphopenia, Splenomegaly OMIM:616005
Congenital Non-Bullous Ichthyosiform Erythroderma
Pruritus, Erythroderma, Keratitis ORPHA:79394
Quinquaud Folliculitis Decalvans
Recurrent skin infections, Pustule ORPHA:346
Inflammatory Skin And Bowel Disease, Neonatal, 1
Blepharitis, Erythroderma, Pustule OMIM:614328
Erythrocytosis, Familial, 7
Increased hematocrit, Polycythemia OMIM:617981
Overhydrated Hereditary Stomatocytosis
Stomatocytosis, Abnormal mean corpuscular volume, Splenomegaly, Anisocytosis, Reticulocytosis, He... ORPHA:3203
Inflammatory Bowel Disease 28, Autosomal Recessive
Folliculitis, Pyoderma, Perianal abscess, Crohn's disease, Enterocolitis, Colitis OMIM:613148
Elliptocytosis 3
Decreased mean corpuscular volume, Chronic hemolytic anemia, Pyropoikilocytosis, Elliptocytosis OMIM:617948
Beta-Thalassemia
Hepatitis, Anemia, Abnormal hemoglobin, Splenomegaly, Microcytic anemia, Thrombocytopenia ORPHA:848
Ichthyosis Prematurity Syndrome
Pruritus, Allergic rhinitis, Erythroderma OMIM:608649
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Neutropenia, Lymphadenopathy, Decreased proportion of CD3-positive T cells, Hepatosplenomegaly, L... ORPHA:169154
Familial Hemophagocytic Lymphohistiocytosis
Infectious encephalitis, Erythroderma, Neutropenia, Anemia, Splenomegaly, Maculopapular exanthema... ORPHA:540
Autoinflammatory Syndrome, Familial, Behcet-Like
Hemolytic anemia, Anterior uveitis, Lymphopenia, Skin rash, Thrombocytopenia, Colitis OMIM:616744
Erythrocytosis, Familial, 5
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:617907
Erythrocytosis, Familial, 6
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:617980
Lymphatic Malformation 3
Recurrent skin infections OMIM:613480
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Thrombocytosis, Macrocytic anemia, Leukopenia, Bone marrow hypocellularity, Erythroid hypoplasia,... ORPHA:86841
Bleeding Disorder, Platelet-Type, 21
Psoriasiform dermatitis, Eczema, Thrombocytopenia OMIM:617443
Hemophagocytic Lymphohistiocytosis, Familial, 4
Neutropenia, Anemia, Splenomegaly, Skin rash, Thrombocytopenia, Hemophagocytosis, Conjunctivitis OMIM:603552
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To
Stomatocytosis, Hemolytic anemia, Anisopoikilocytosis, Elevated red cell adenosine deaminase level OMIM:102730
Alopecia-Intellectual Disability Syndrome 4
Erythroderma OMIM:618840
Erythrokeratodermia Variabilis Et Progressiva 6
Pruritus, Superficial dermal perivascular inflammatory infiltrate OMIM:618531
Methemoglobinemia And Ambiguous Genitalia
Methemoglobinemia OMIM:250790
Immunodeficiency 66
Recurrent skin infections, Pustule OMIM:618847
Dermatitis, Atopic
Atopic dermatitis, Eczema, Allergic rhinitis, Pruritus, Recurrent skin infections, Conjunctivitis OMIM:603165
Ige Responsiveness, Atopic
Eczema, Allergic rhinitis OMIM:147050
Sézary Syndrome
Pruritus, Abnormal lymphocyte morphology, Erythroderma, Splenomegaly ORPHA:3162
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Decreased proportion of memory B cells, B lymphocytopenia ORPHA:70593
Immunodeficiency 81
Decreased proportion of class-switched memory B cells, Recurrent cutaneous abscess formation, Abs... OMIM:619374
Ichthyosis, Hystrix-Like, With Deafness
Erythroderma, Punctate keratitis OMIM:602540
Pemphigus Foliaceus
Psoriasiform dermatitis, Erythroderma, Pustule, Pruritus, Crusting erythematous dermatitis ORPHA:79481
Systemic Lupus Erythematosus
Lupus nephritis, Pericarditis, Leukopenia, Nephritis, Arthritis, Malar rash, Thrombocytopenia, He... OMIM:152700
Congenital Lethal Erythroderma
Congenital exfoliative erythroderma ORPHA:1954
Trichothiodystrophy 3, Photosensitive
Erythroderma OMIM:616395
Diamond-Blackfan Anemia 6
Macrocytic anemia, Increased mean corpuscular volume, Persistence of hemoglobin F OMIM:612561
Bullous Impetigo
Recurrent bacterial skin infections, Pustule, Septic arthritis ORPHA:36237
Immunodeficiency 92
Leukocytosis, B lymphocytopenia, Decreased proportion of class-switched memory B cells, Thrombocy... OMIM:619652
Isolated Agammaglobulinemia
Sinusitis, Pneumonia, Recurrent cutaneous abscess formation, Abnormal lymphocyte morphology, Anem... ORPHA:229717
Red Cell Permeability Defect
Elliptocytosis OMIM:179650
Hermansky-Pudlak Syndrome 9
Thrombocytopenia, Leukopenia OMIM:614171
Hemochromatosis, Type 3
Anemia, Neutropenia, Lymphopenia, Cirrhosis OMIM:604250
Autosomal Erythropoietic Protoporphyria
Pruritus, Eczema, Microcytic anemia ORPHA:79278
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Lymphadenopathy, Lymphadenitis, Abscess, Splenomegaly, Perianal abscess, Hepatosplenomegaly, Impa... OMIM:618935
Immunodeficiency 70
B lymphocytopenia, Decreased proportion of CD4-positive helper T cells OMIM:618969
Adult Idiopathic Neutropenia
Monocytopenia, Neutropenia, Lymphopenia, Monocytosis ORPHA:2688
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
B lymphocytopenia, Hepatomegaly, Reduced red cell adenosine deaminase level, Splenomegaly, Aplasi... OMIM:102700
Corneodermatoosseous Syndrome
Erythroderma OMIM:122440
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Hepatomegaly, Abnormal B cell count, Lymphadenitis, Decreased proportion of CD3-positive T cells,... ORPHA:331206
Autosomal Dominant Epidermolytic Ichthyosis
Erythroderma ORPHA:312
Immunodeficiency 31C
Lymphopenia, Autoimmune hemolytic anemia OMIM:614162
Keratolytic Winter Erythema
Pustule ORPHA:50943
Combined Immunodeficiency Due To Dock8 Deficiency
B lymphocytopenia, T lymphocytopenia ORPHA:217390
Spherocytosis, Type 5
Reticulocytosis, Hemolytic anemia, Spherocytosis, Splenomegaly OMIM:612690
Agammaglobulinemia 1, Autosomal Recessive
B lymphocytopenia, Neutropenia OMIM:601495
Autoimmune Lymphoproliferative Syndrome, Type Iia
Increased B cell count, Hepatomegaly, Elevated proportion of CD4-negative, CD8-negative, alpha-be... OMIM:603909
T-Cell Immunodeficiency With Thymic Aplasia
Abnormal T cell morphology, Hepatosplenomegaly, Aplasia of the thymus, Lymphopenia OMIM:242700
Elliptocytosis 2
Reticulocytosis, Hemolytic anemia, Elliptocytosis OMIM:130600
Ghosal Hematodiaphyseal Dysplasia
Refractory anemia, Bone marrow hypocellularity, Thrombocytopenia, Leukopenia OMIM:231095
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Psoriasiform dermatitis, Recurrent skin infections, Erythroderma OMIM:615508
Diamond-Blackfan Anemia 5
Macrocytic anemia, Reticulocytopenia, Leukopenia, Erythroid hypoplasia OMIM:612528
Immunodeficiency 58
Eczema, Allergic rhinitis, Recurrent cutaneous abscess formation, Chronic otitis media, Seborrhei... OMIM:618131
Bone Marrow Failure Syndrome 4
Thrombocytopenia, Eczema, Anemia, Leukopenia OMIM:618116
Indolent Systemic Mastocytosis
Pruritus, Abnormal mast cell morphology, Splenomegaly, Skin rash, Maculopapular exanthema, Increa... ORPHA:98848
Diffuse Cutaneous Mastocytosis
Abnormality of the spleen, Erythroderma, Pruritus, Myeloproliferative disorder, Lymphocytosis ORPHA:79456
Lymphoproliferative Syndrome 1
Hepatomegaly, Leukopenia, Lymphadenopathy, Anemia, Splenomegaly, Autoimmune thrombocytopenia, Dec... OMIM:613011
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Hepatomegaly, Lymphadenopathy, Splenomegaly, Autoimmune thrombocytopenia, Lymphopenia, Autoimmune... OMIM:616100
Cyclic Neutropenia
Peritonitis, Lymphadenopathy, Perianal abscess, Lymphopenia, Cyclic neutropenia, Recurrent tonsil... ORPHA:2686
Netherton Syndrome
Hypereosinophilia, Allergic rhinitis, Erythroderma OMIM:256500
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2
Seborrheic dermatitis, Acne OMIM:614441
Vexas Syndrome
Inflammatory abnormality of the skin, Macrocytic anemia, Nasal chondritis, Chondritis of pinna, N... OMIM:301054
Pressure-Induced Localized Lipoatrophy
Inflammatory abnormality of the skin ORPHA:90160
Diabetes Mellitus, Transient Neonatal, 3
Elevated hemoglobin A1c OMIM:610582
Elastoderma
Eczema, Erysipelas ORPHA:228240
Familial Cold Autoinflammatory Syndrome 2
Leukocytosis, Arthritis, Splenomegaly, Skin rash, Recurrent aphthous stomatitis, Erythema nodosum OMIM:611762
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Lymphope... OMIM:600802
Lamellar Ichthyosis
Chronic otitis media, Pruritus, Erythroderma ORPHA:313
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Absent tonsils, Hepatomegaly, Decreased proportion of naive T cells, Lymph node hypoplasia, Decre... ORPHA:276
Mal De Meleda
Inflammatory abnormality of the skin, Superficial dermal perivascular inflammatory infiltrate ORPHA:87503
Isovaleric Acidemia
Pancytopenia, Thrombocytopenia, Bone marrow hypocellularity, Leukopenia OMIM:243500
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Erythroderma, Conjunctivitis OMIM:242150
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Psoriasiform dermatitis, Inflammation of the large intestine, Pruritus, Acne, Arthritis, Palmopla... ORPHA:324964
Amme Complex
Elliptocytosis OMIM:300194
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Lymphopenia ORPHA:1116
Mycosis Fungoides
Psoriasiform dermatitis, Eczema, Pruritus OMIM:254400
Ichthyosis, Congenital, Autosomal Recessive 1
Erythroderma OMIM:242300
Immunodeficiency 60 And Autoimmunity
Pancytopenia, Decreased basophil count, Decreased proportion of memory B cells, Splenomegaly OMIM:618394
Netherton Syndrome
Eczema, Erythroderma, Skin rash ORPHA:634
X-Linked Lymphoproliferative Disease
Lymphadenopathy, Splenomegaly, Absent natural killer cells, Hepatosplenomegaly, Lymphocytosis, Pa... ORPHA:2442
Noonan Syndrome 12
Thrombocytopenia, Lymphopenia OMIM:618624
Inflammatory Bowel Disease 25, Autosomal Recessive
Perianal abscess, Folliculitis, Enterocolitis OMIM:612567
Solute carrier family 4 (anion exchanger), member 1
Hemolytic anemia, Acanthocytosis, Stomatocytosis, Splenomegaly, Reticulocytosis, Spherocytosis, E... OMIM:109270
Interstitial Granulomatous Dermatitis With Arthritis
Inflammatory abnormality of the skin, Pruritus, Rheumatoid arthritis ORPHA:79099
Familial Benign Copper Deficiency
Anemia, Acne ORPHA:1551
Hepatoportal Sclerosis
Leukopenia, Hepatocellular carcinoma, Anemia, Nodular regenerative hyperplasia of liver, Splenome... ORPHA:64743
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
B lymphocytopenia, Impaired lymphocyte transformation with phytohemagglutinin, Absent natural kil... ORPHA:35078
Congenital Disorder Of Glycosylation, Type If
Erythroderma OMIM:609180
Dermatitis Herpetiformis
Pruritus, Eczema, Microcytic anemia ORPHA:1656
Leukocyte Adhesion Deficiency, Type Iii
Leukocytosis, Anemia, Splenomegaly, Hepatosplenomegaly, Recurrent skin infections, Extramedullary... OMIM:612840
Ameloonychohypohidrotic Syndrome
Seborrheic dermatitis OMIM:104570
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Hepatomegaly, Neutropenia, Leukopenia, Monocytosis, Hypoplasia of the thymus, Anemia, Erythroid h... OMIM:612541
Hypertrophic Osteoarthropathy, Primary, Autosomal Dominant
Seborrheic dermatitis, Acne OMIM:167100
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Allergic rhinitis, Anemia, Splenomegaly, Skin rash, Anemia of inadequate production OMIM:612714
Harlequin Ichthyosis
Erythroderma ORPHA:457
Immunodeficiency, Common Variable, 8, With Autoimmunity
Chronic neutropenia, B lymphocytopenia, Decreased proportion of class-switched memory B cells, Ly... OMIM:614700
Idiopathic Hypereosinophilic Syndrome
Inflammatory abnormality of the skin, Cholangitis, Eczema, Leukocytosis, Erythroderma, Thrombocyt... ORPHA:3260
Pachydermoperiostosis
Eczematoid dermatitis, Seborrheic dermatitis, Acne, Arthritis, Anemia, Osteomyelitis, Splenomegaly ORPHA:2796
Bathing Suit Ichthyosis
Erythroderma ORPHA:100976
Majeed Syndrome
Inflammatory abnormality of the skin, Abnormal inflammatory response, Leukocytosis, Pustule, Syno... ORPHA:77297
Rat-Bite Fever
Myocarditis, Pericarditis, Pustule, Endocarditis, Lymphadenitis, Oligoarthritis, Anemia, Arthriti... ORPHA:31205
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Megaloblastic anemia, Increased mean corpuscular volume OMIM:277410
Biotinidase Deficiency
Seborrheic dermatitis, Splenomegaly, Recurrent skin infections, Skin rash, Conjunctivitis OMIM:253260
Autosomal Dominant Severe Congenital Neutropenia
Acute lymphoblastic leukemia, Neutropenia, Monocytosis, Leukemia, Acute myeloid leukemia, Lymphop... ORPHA:486
Panniculitis-Induced Localized Lipodystrophy
Inflammatory abnormality of the skin ORPHA:90159
Combined Immunodeficiency Due To Zap70 Deficiency
Pneumonia, Stomatitis, Lymphadenitis, Chronic oral candidiasis, Chronic mucocutaneous candidiasis... ORPHA:911
Ataxia-Telangiectasia
Lymphopenia, Aplasia/Hypoplasia of the thymus ORPHA:100
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
B lymphocytopenia, Hypochromic microcytic anemia, Schistocytosis, Sideroblastic anemia, Splenomegaly OMIM:616084
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Eosinophilia, Erythroderma, Lymphopenia OMIM:617425
Purine Nucleoside Phosphorylase Deficiency
Abnormal T cell morphology, Decreased proportion of CD3-positive T cells, Autoimmune thrombocytop... ORPHA:760
Methylcobalamin Deficiency Type Cble
Pancytopenia, Macrocytic anemia, Neutropenia, Increased mean corpuscular volume ORPHA:2169
Immunodeficiency 49
Eosinophilia, Lymphopenia OMIM:617237
Ichthyosis, Congenital, Autosomal Recessive 6
Erythroderma OMIM:612281
Gamma-Heavy Chain Disease
Abnormal lymphocyte morphology, Anemia, Splenomegaly, Autoimmune thrombocytopenia, Rheumatoid art... ORPHA:100026
Psoriasis 14, Pustular
Cholangitis, Leukocytosis, Psoriasiform dermatitis, Pustule, Oligoarthritis, Neutrophilia OMIM:614204
Purine Nucleoside Phosphorylase Deficiency
Neutropenia in presence of anti-neutropil antibodies, Lymph node hypoplasia, Pure red cell aplasi... OMIM:613179
Proteasome-Associated Autoinflammatory Syndrome 3
Hepatomegaly, Lymphadenopathy, Anemia, Splenomegaly, Lymphopenia, Thrombocytopenia OMIM:617591
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
B lymphocytopenia, Neutropenia, Leukopenia, Bone marrow hypocellularity, Anemia, Lymphopenia, Ret... ORPHA:508542
Idiopathic Localized Lipodystrophy
Inflammatory abnormality of the skin, Pruritus ORPHA:90158
Beta-Thalassemia Intermedia
Leukocytosis, Erythroid hyperplasia, Persistence of hemoglobin F, Splenomegaly, Hepatosplenomegal... ORPHA:231222
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
HbH hemoglobin, Microcytic anemia ORPHA:98791
Sting-Associated Vasculopathy, Infantile-Onset
Thrombocytosis, Leukopenia, Paratracheal lymphadenopathy, Anemia, Lymphopenia, Follicular hyperpl... OMIM:615934
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Erythroderma, Keratitis OMIM:308205
Diamond-Blackfan Anemia 7
Macrocytic anemia, Neutropenia, Increased mean corpuscular volume OMIM:612562
Primary Intestinal Lymphangiectasia
Abnormal lymphatic vessel morphology, Anemia, Reduced proportion of CD4+ effector memory T cells,... ORPHA:90362
Thymoma
Imbalanced hemoglobin synthesis, Myositis, Leukemia, Pure red cell aplasia, Rheumatoid arthritis,... ORPHA:99867
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Eczema, Tubulointerstitial nephritis, Neutropenia, Neutropenia in presence of anti-neutropil anti... ORPHA:37042
Legionnaires Disease
Lymphadenopathy, Hepatitis, Bone marrow hypocellularity, Pancreatitis, Splenomegaly, Lymphopenia,... ORPHA:549
Iga Pemphigus
Pustule, Pruritus, Neutrophilic infiltration of the skin, Eosinophilia, Ulcerative colitis, Cutan... ORPHA:555905
Common Variable Immunodeficiency
Lymphadenopathy, Splenomegaly, Abnormality of the liver, Autoimmune thrombocytopenia, Lymphopenia... ORPHA:1572
Blackfan-Diamond Anemia
Thrombocytosis, Elevated red cell adenosine deaminase level, Neutropenia, Increased mean corpuscu... ORPHA:124
Icf Syndrome
Abnormality of neutrophils, Anemia, Lymphopenia ORPHA:2268
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1
Seborrheic dermatitis, Eczematoid dermatitis, Arthritis OMIM:259100
Acquired Methemoglobinemia
Methemoglobinemia ORPHA:464453
Pgm3-Cdg
Abnormal CD4:CD8 ratio, Neutropenia, Abnormal proportion of CD8-positive T cells, Leukopenia, Neu... ORPHA:443811
Autoimmune Lymphoproliferative Syndrome
Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, Neutropenia in ... ORPHA:3261
Ebola Hemorrhagic Fever
Leukopenia, Hepatitis, Acute pancreatitis, Lymphopenia, Thrombocytopenia ORPHA:319218
Refractory Celiac Disease
Inflammatory abnormality of the skin, Macrocytic anemia, Normocytic anemia, Iron deficiency anemi... ORPHA:398063
Zinc Deficiency, Transient Neonatal
Eczema OMIM:608118
Necrobiosis Lipoidica
Inflammatory abnormality of the skin, Abnormality of neutrophil physiology ORPHA:542592
X-Linked Dominant Chondrodysplasia Punctata
Erythroderma ORPHA:35173
Trichothiodystrophy 1, Photosensitive
Keratoconjunctivitis sicca, Erythroderma OMIM:601675
Trichothiodystrophy
Keratoconjunctivitis sicca, Eczema, Neutropenia, Anemia, Increased mean corpuscular hemoglobin co... ORPHA:33364
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Lymphopenia ORPHA:391307
Dominant Beta-Thalassemia
Hypochromic microcytic anemia, Persistence of hemoglobin F, Splenomegaly, Hypersplenism, Hepatosp... ORPHA:231226
Beta-Thalassemia Major
Anisopoikilocytosis, Hypochromic microcytic anemia, Splenomegaly, Persistence of hemoglobin F, Hy... ORPHA:231214
Hereditary Methemoglobinemia
Methemoglobinemia ORPHA:621
Yao Syndrome
Keratoconjunctivitis sicca, Inflammatory abnormality of the skin, Pericarditis, Arthritis, Skin rash OMIM:617321
Chondrodysplasia Punctata 2, X-Linked Dominant
Erythroderma OMIM:302960
Transketolase Deficiency
Seborrheic dermatitis, Uveitis, Conjunctivitis ORPHA:488618
Shwachman-Diamond Syndrome
Chronic neutropenia, Macrocytic anemia, Neutropenia, Normocytic anemia, Leukopenia, Increased mea... ORPHA:811
Schimke Immunoosseous Dysplasia
Abnormal T cell morphology, Neutropenia, Anemia, Lymphopenia, Thrombocytopenia OMIM:242900
Dyskeratosis Congenita, Autosomal Dominant 1
Anemia, Bone marrow hypocellularity, Cirrhosis, Lymphopenia, Thrombocytopenia, Aplastic anemia OMIM:127550
Monosomy 22
Seborrheic dermatitis, Hepatosplenomegaly, Aplasia of the thymus, Hypochromic microcytic anemia ORPHA:96123
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Autoimmune thrombocytopenia, Abnormal lymphocyte morphology, Severe B lymphocytopenia ORPHA:293978
Cartilage-Hair Hypoplasia
Macrocytic anemia, Impaired lymphocyte transformation with phytohemagglutinin, Neutropenia, Conge... OMIM:250250
16Q24.3 Microdeletion Syndrome
Thrombocytopenia, Increased mean corpuscular volume ORPHA:261250
Mirage Syndrome
Leukopenia, Anemia, Lymphopenia, Thrombocytopenia, Hypoplastic spleen OMIM:617053
Nephrotic Syndrome, Type 14
Lymphopenia OMIM:617575
Graft Versus Host Disease
Inflammatory abnormality of the skin, Pneumonia, Stomatitis, Myositis, Fasciitis, Arthritis, Acut... ORPHA:39812
Thrombocytopenia 1
Decreased mean platelet volume, Eczema, Congenital thrombocytopenia, Intermittent thrombocytopenia OMIM:313900
Pediatric Systemic Lupus Erythematosus
Leukopenia, Microangiopathic hemolytic anemia, Lymphadenopathy, Lymphopenia, Thrombocytopenia ORPHA:93552
Fusariosis
Brain abscess, Abnormality of the spleen, Neutropenia, Lung abscess, Peritonitis, Abnormality of ... ORPHA:228119
Thrombocytopenia-Absent Radius Syndrome
Leukocytosis, Seborrheic dermatitis, Anemia, Hepatosplenomegaly, Thrombocytopenia, Eosinophilia OMIM:274000
Shwachman-Diamond Syndrome 1
Neutropenia, Anemia, Persistence of hemoglobin F, Acute myeloid leukemia, Pancytopenia, Thrombocy... OMIM:260400
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Leukocytosis, Thrombocytosis, Hepatomegaly, Leukopenia, Lymphadenopathy, Bone marrow hypocellular... OMIM:615688
Alpha-Thalassemia/Mental Retardation Syndrome, Chromosome 16-Related
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia OMIM:141750
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency
Seborrheic dermatitis OMIM:210210
Ataxia-Telangiectasia
Leukemia, Hypoplasia of the thymus, Decreased proportion of CD4-positive helper T cells, Lymphope... OMIM:208900
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Anemia, Lymphopenia, Abnormality of the pancreas ORPHA:935
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
B lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, Hepatitis, Hepatosplenom... ORPHA:391487
Schimke Immuno-Osseous Dysplasia
Decreased proportion of naive CD8 T cells, Neutropenia, Bone marrow hypocellularity, Anemia, Panc... ORPHA:1830
Wiskott-Aldrich Syndrome, Autosomal Dominant
Sinusitis, Absent microvilli on the surface of peripheral blood lymphocytes, Eczema, Inflammation... OMIM:600903
Avian Influenza
Thrombocytopenia, Hepatitis, Lymphopenia, Leukopenia ORPHA:454836
Centrifugal Lipodystrophy
Inflammatory abnormality of the skin, Lymphadenitis ORPHA:90156
Lead Poisoning
Abnormal T cell morphology, Imbalanced hemoglobin synthesis, Tubulointerstitial nephritis, Anemia... ORPHA:330015
Spondyloenchondrodysplasia With Immune Dysregulation
Neutropenia, Lymphadenopathy, Autoimmune thrombocytopenia, Lymphopenia, T lymphocytopenia OMIM:607944
Nijmegen Breakage Syndrome
B lymphocytopenia, T lymphocytopenia, Thrombocytopenia, Autoimmune hemolytic anemia OMIM:251260
Combined Immunodeficiency With Faciooculoskeletal Anomalies
B lymphocytopenia, Reduced natural killer cell count, Decreased proportion of CD4-positive helper... ORPHA:221139
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
B lymphocytopenia, Eczema, Superficial dermal perivascular inflammatory infiltrate, Seborrheic de... ORPHA:83617
Popov-Chang syndrome
Lymphopenia OMIM:618428
Immunodeficiency 23
Neutropenia, Abscess, Lymphopenia, Eosinophilia, Hemolytic anemia OMIM:615816
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Enteroviral hepatitis, Absent circulating B cells OMIM:307200
Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia OMIM:301040
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Anemia, Infectious encephalitis, Abnormal hemoglobin ORPHA:847
Syndromic Diarrhea
Thrombocytosis, Hepatomegaly, Increased mean platelet volume, Hepatic fibrosis, Hypoplasia of the... ORPHA:84064
Wiskott-Aldrich Syndrome
Absent microvilli on the surface of peripheral blood lymphocytes, Impaired lymphocyte transformat... OMIM:301000
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome
Seborrheic dermatitis, Eczema ORPHA:369950
Whim Syndrome
Lymphadenitis, Lymphopenia, Neutropenia, Abnormality of neutrophil morphology ORPHA:51636
Hemihyperplasia-Multiple Lipomatosis Syndrome
Seborrheic dermatitis ORPHA:276280
22Q11.2 Deletion Syndrome
Chronic otitis media, Seborrheic dermatitis, Hypoplasia of the thymus, Acne, Arthritis, Splenomeg... ORPHA:567
Immunodeficiency 87 And Autoimmunity
Hepatomegaly, Cervical lymphadenopathy, Jaundice, Hepatic steatosis, Lymphopenia, Decreased propo... OMIM:619573
Immunodeficiency 82 With Systemic Inflammation
B lymphocytopenia, Decreased proportion of naive T cells, Lymphadenopathy, Hepatitis, Anemia, Spl... OMIM:619381
Uremic Pruritus
Inflammatory abnormality of the skin, Pruritus, Recurrent skin infections ORPHA:94059
Wiskott-Aldrich Syndrome
Neutropenia, Acute leukemia, Hypoplasia of the thymus, Chronic leukemia, Abnormal platelet morpho... ORPHA:906
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Seborrheic dermatitis OMIM:300868
Melkersson-Rosenthal Syndrome
Inflammatory abnormality of the skin, Cheilitis ORPHA:2483
Lujo Hemorrhagic Fever
Leukocytosis, Leukopenia, Fulminant hepatitis, Lymphopenia, Thrombocytopenia ORPHA:319213
Short Stature, Microcephaly, And Endocrine Dysfunction
Anemia, Lymphopenia OMIM:616541
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Hepatomegaly, Hypereosinophilia, Decreased proportion of CD4-positive helper T cells, Decreased p... ORPHA:508533
Cowden Syndrome 1
Lymphopenia OMIM:158350
Hennekam Syndrome
Pulmonary lymphangiectasia, Lymphadenopathy, Lymphangioma, Splenomegaly, Lymphopenia ORPHA:2136
Alg12-Cdg
Thrombocytopenia, B lymphocytopenia ORPHA:79324
Primary Sjögren Syndrome
Chronic active hepatitis, Normocytic anemia, Leukopenia, Lymphadenopathy, Chronic hepatitis, Norm... ORPHA:289390
Malakoplakia
Inflammatory abnormality of the skin, Urinary bladder inflammation, Pruritus, Skin rash, Orchitis ORPHA:556
Marburg Hemorrhagic Fever
Leukopenia, Neutrophilia in presence of infection, Lymphadenopathy, Abnormal lymphocyte morpholog... ORPHA:99826
Digeorge Syndrome
Seborrheic dermatitis, Acne OMIM:188400
Igg4-Related Kidney Disease
Inflammatory abnormality of the skin, Pericarditis, Tubulointerstitial nephritis, Urinary bladder... ORPHA:449395
Secondary Intestinal Lymphangiectasia
Cirrhosis, Lymphopenia ORPHA:90363
Eisenmenger Syndrome
Iron deficiency anemia, Increased mean corpuscular volume, Hypochromic microcytic anemia ORPHA:97214
Triglyceride Deposit Cardiomyovasculopathy
Inflammatory abnormality of the skin, Vacuolated lymphocytes, Pancreatitis, Splenomegaly ORPHA:565612
Cushing Disease
Leukocytosis, Lymphopenia, Decreased eosinophil count ORPHA:96253
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Inflammatory abnormality of the skin, Keratoconjunctivitis sicca, Neutropenia, Pneumonia, Rhiniti... ORPHA:95455
Cushing Syndrome Due To Ectopic Acth Secretion
Leukocytosis, Neoplasm of the thymus, Pancreatic adenocarcinoma, Pancreatoblastoma, Abnormality o... ORPHA:99889

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 Eps15

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 Eps15.

There are 4 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
A trans-eQTL network regulates osteoclast multinucleation and bone mass. eLife (June 2020) Eps15tm1a(KOMP)Wtsi PMC7351491
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. Nature communications (August 2019)